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.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.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.43094335T>A | CA10599659 | BRCA1 | n.1260A>T c.1196A>T (p.His399Leu) c.1070A>T (p.His357Leu) c.1193A>T (p.His398Leu) c.1118A>T (p.His373Leu) c.784+409A>T (n.784+409A>T) c.646+409A>T (n.646+409A>T) c.308A>T (p.His103Leu) c.1073A>T (p.His358Leu) c.1055A>T (p.His352Leu) c.664+409A>T (n.664+409A>T) c.706+409A>T (n.706+409A>T) c.*1204A>T (n.*1204A>T) c.670+1511A>T (n.670+1511A>T) c.547A>T c.*979A>T (n.*979A>T) c.787+409A>T (n.787+409A>T) c.793A>T c.409+409A>T (n.409+409A>T) c.412+409A>T (n.412+409A>T) c.*1132A>T (n.*1132A>T) c.5-30384A>T (n.5-30384A>T) c.-43-19814A>T (n.-43-19814A>T) c.-99+30936A>T (n.-99+30936A>T) n.1332A>T n.1373A>T | dbSNP |
17 | g.43094335T>C | CA000787 | BRCA1 | n.1260A>G c.1196A>G (p.His399Arg) c.1070A>G (p.His357Arg) c.1193A>G (p.His398Arg) c.1118A>G (p.His373Arg) c.784+409A>G (n.784+409A>G) c.646+409A>G (n.646+409A>G) c.308A>G (p.His103Arg) c.1073A>G (p.His358Arg) c.1055A>G (p.His352Arg) c.664+409A>G (n.664+409A>G) c.706+409A>G (n.706+409A>G) c.*1204A>G (n.*1204A>G) c.670+1511A>G (n.670+1511A>G) c.547A>G c.*979A>G (n.*979A>G) c.787+409A>G (n.787+409A>G) c.793A>G c.409+409A>G (n.409+409A>G) c.412+409A>G (n.412+409A>G) c.*1132A>G (n.*1132A>G) c.5-30384A>G (n.5-30384A>G) c.-43-19814A>G (n.-43-19814A>G) c.-99+30936A>G (n.-99+30936A>G) n.1332A>G n.1373A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43094335T>G | CA10599660 | BRCA1 | n.1260A>C c.1196A>C (p.His399Pro) c.1070A>C (p.His357Pro) c.1193A>C (p.His398Pro) c.1118A>C (p.His373Pro) c.784+409A>C (n.784+409A>C) c.646+409A>C (n.646+409A>C) c.308A>C (p.His103Pro) c.1073A>C (p.His358Pro) c.1055A>C (p.His352Pro) c.664+409A>C (n.664+409A>C) c.706+409A>C (n.706+409A>C) c.*1204A>C (n.*1204A>C) c.670+1511A>C (n.670+1511A>C) c.547A>C c.*979A>C (n.*979A>C) c.787+409A>C (n.787+409A>C) c.793A>C c.409+409A>C (n.409+409A>C) c.412+409A>C (n.412+409A>C) c.*1132A>C (n.*1132A>C) c.5-30384A>C (n.5-30384A>C) c.-43-19814A>C (n.-43-19814A>C) c.-99+30936A>C (n.-99+30936A>C) n.1332A>C n.1373A>C | |
17 | g.43094335T= | CA2260784838 | BRCA1 | n.1260A= c.1196A= (p.His399=) c.1070A= (p.His357=) c.1193A= (p.His398=) c.1118A= (p.His373=) c.784+409A= (n.784+409A=) c.646+409A= (n.646+409A=) c.308A= (p.His103=) c.1073A= (p.His358=) c.1055A= (p.His352=) c.664+409A= (n.664+409A=) c.706+409A= (n.706+409A=) c.*1204A= (n.*1204A=) c.670+1511A= (n.670+1511A=) c.547A= c.*979A= (n.*979A=) c.787+409A= (n.787+409A=) c.793A= c.409+409A= (n.409+409A=) c.412+409A= (n.412+409A=) c.*1132A= (n.*1132A=) c.5-30384A= (n.5-30384A=) c.-43-19814A= (n.-43-19814A=) c.-99+30936A= (n.-99+30936A=) n.1332A= n.1373A= | |
17 | g.43094337_43094338del | CA2573105992 | BRCA1 | n.1259_1260del c.1195_1196del (p.His399Ter) c.1069_1070del (p.His357Ter) c.1192_1193del (p.His398Ter) c.1117_1118del (p.His373Ter) c.784+408_784+409del (n.784+408_784+409del) c.646+408_646+409del (n.646+408_646+409del) c.307_308del (p.His103Ter) c.1072_1073del (p.His358Ter) c.1054_1055del (p.His352Ter) c.664+408_664+409del (n.664+408_664+409del) c.706+408_706+409del (n.706+408_706+409del) c.*1203_*1204del (n.*1203_*1204del) c.670+1510_670+1511del (n.670+1510_670+1511del) c.546_547del c.*978_*979del (n.*978_*979del) c.787+408_787+409del (n.787+408_787+409del) c.792_793del c.409+408_409+409del (n.409+408_409+409del) c.412+408_412+409del (n.412+408_412+409del) c.*1131_*1132del (n.*1131_*1132del) c.5-30385_5-30384del (n.5-30385_5-30384del) c.-43-19815_-43-19814del (n.-43-19815_-43-19814del) c.-99+30935_-99+30936del (n.-99+30935_-99+30936del) n.1331_1332del n.1372_1373del | ClinVar dbSNP |
17 | g.43094336G>A | CA10599661 | BRCA1 | n.1259C>T c.1195C>T (p.His399Tyr) c.1069C>T (p.His357Tyr) c.1192C>T (p.His398Tyr) c.1117C>T (p.His373Tyr) c.784+408C>T (n.784+408C>T) c.646+408C>T (n.646+408C>T) c.307C>T (p.His103Tyr) c.1072C>T (p.His358Tyr) c.1054C>T (p.His352Tyr) c.664+408C>T (n.664+408C>T) c.706+408C>T (n.706+408C>T) c.*1203C>T (n.*1203C>T) c.670+1510C>T (n.670+1510C>T) c.546C>T c.*978C>T (n.*978C>T) c.787+408C>T (n.787+408C>T) c.792C>T c.409+408C>T (n.409+408C>T) c.412+408C>T (n.412+408C>T) c.*1131C>T (n.*1131C>T) c.5-30385C>T (n.5-30385C>T) c.-43-19815C>T (n.-43-19815C>T) c.-99+30935C>T (n.-99+30935C>T) n.1331C>T n.1372C>T | ClinVar dbSNP |
17 | g.43094336G>C | CA10599662 | BRCA1 | n.1259C>G c.1195C>G (p.His399Asp) c.1069C>G (p.His357Asp) c.1192C>G (p.His398Asp) c.1117C>G (p.His373Asp) c.784+408C>G (n.784+408C>G) c.646+408C>G (n.646+408C>G) c.307C>G (p.His103Asp) c.1072C>G (p.His358Asp) c.1054C>G (p.His352Asp) c.664+408C>G (n.664+408C>G) c.706+408C>G (n.706+408C>G) c.*1203C>G (n.*1203C>G) c.670+1510C>G (n.670+1510C>G) c.546C>G c.*978C>G (n.*978C>G) c.787+408C>G (n.787+408C>G) c.792C>G c.409+408C>G (n.409+408C>G) c.412+408C>G (n.412+408C>G) c.*1131C>G (n.*1131C>G) c.5-30385C>G (n.5-30385C>G) c.-43-19815C>G (n.-43-19815C>G) c.-99+30935C>G (n.-99+30935C>G) n.1331C>G n.1372C>G | dbSNP |
17 | g.43094336G= | CA2260784839 | BRCA1 | n.1259C= c.1195C= (p.His399=) c.1069C= (p.His357=) c.1192C= (p.His398=) c.1117C= (p.His373=) c.784+408C= (n.784+408C=) c.646+408C= (n.646+408C=) c.307C= (p.His103=) c.1072C= (p.His358=) c.1054C= (p.His352=) c.664+408C= (n.664+408C=) c.706+408C= (n.706+408C=) c.*1203C= (n.*1203C=) c.670+1510C= (n.670+1510C=) c.546C= c.*978C= (n.*978C=) c.787+408C= (n.787+408C=) c.792C= c.409+408C= (n.409+408C=) c.412+408C= (n.412+408C=) c.*1131C= (n.*1131C=) c.5-30385C= (n.5-30385C=) c.-43-19815C= (n.-43-19815C=) c.-99+30935C= (n.-99+30935C=) n.1331C= n.1372C= | |
17 | g.43094336G>T | CA10599663 | BRCA1 | n.1259C>A c.1195C>A (p.His399Asn) c.1069C>A (p.His357Asn) c.1192C>A (p.His398Asn) c.1117C>A (p.His373Asn) c.784+408C>A (n.784+408C>A) c.646+408C>A (n.646+408C>A) c.307C>A (p.His103Asn) c.1072C>A (p.His358Asn) c.1054C>A (p.His352Asn) c.664+408C>A (n.664+408C>A) c.706+408C>A (n.706+408C>A) c.*1203C>A (n.*1203C>A) c.670+1510C>A (n.670+1510C>A) c.546C>A c.*978C>A (n.*978C>A) c.787+408C>A (n.787+408C>A) c.792C>A c.409+408C>A (n.409+408C>A) c.412+408C>A (n.412+408C>A) c.*1131C>A (n.*1131C>A) c.5-30385C>A (n.5-30385C>A) c.-43-19815C>A (n.-43-19815C>A) c.-99+30935C>A (n.-99+30935C>A) n.1331C>A n.1372C>A | |
17 | g.43094337T>A | CA500233593 | BRCA1 | n.1258A>T c.1194A>T (p.Ser398=) c.1068A>T (p.Ser356=) c.1191A>T (p.Ser397=) c.1116A>T (p.Ser372=) c.784+407A>T (n.784+407A>T) c.646+407A>T (n.646+407A>T) c.306A>T (p.Ser102=) c.1071A>T (p.Ser357=) c.1053A>T (p.Ser351=) c.664+407A>T (n.664+407A>T) c.706+407A>T (n.706+407A>T) c.*1202A>T (n.*1202A>T) c.670+1509A>T (n.670+1509A>T) c.545A>T c.*977A>T (n.*977A>T) c.787+407A>T (n.787+407A>T) c.791A>T c.409+407A>T (n.409+407A>T) c.412+407A>T (n.412+407A>T) c.*1130A>T (n.*1130A>T) c.5-30386A>T (n.5-30386A>T) c.-43-19816A>T (n.-43-19816A>T) c.-99+30934A>T (n.-99+30934A>T) n.1330A>T n.1371A>T | dbSNP |
17 | g.43094337T>C | CA500233590 | BRCA1 | n.1258A>G c.1194A>G (p.Ser398=) c.1068A>G (p.Ser356=) c.1191A>G (p.Ser397=) c.1116A>G (p.Ser372=) c.784+407A>G (n.784+407A>G) c.646+407A>G (n.646+407A>G) c.306A>G (p.Ser102=) c.1071A>G (p.Ser357=) c.1053A>G (p.Ser351=) c.664+407A>G (n.664+407A>G) c.706+407A>G (n.706+407A>G) c.*1202A>G (n.*1202A>G) c.670+1509A>G (n.670+1509A>G) c.545A>G c.*977A>G (n.*977A>G) c.787+407A>G (n.787+407A>G) c.791A>G c.409+407A>G (n.409+407A>G) c.412+407A>G (n.412+407A>G) c.*1130A>G (n.*1130A>G) c.5-30386A>G (n.5-30386A>G) c.-43-19816A>G (n.-43-19816A>G) c.-99+30934A>G (n.-99+30934A>G) n.1330A>G n.1371A>G | dbSNP |
17 | g.43094337T>G | CA500233592 | BRCA1 | n.1258A>C c.1194A>C (p.Ser398=) c.1068A>C (p.Ser356=) c.1191A>C (p.Ser397=) c.1116A>C (p.Ser372=) c.784+407A>C (n.784+407A>C) c.646+407A>C (n.646+407A>C) c.306A>C (p.Ser102=) c.1071A>C (p.Ser357=) c.1053A>C (p.Ser351=) c.664+407A>C (n.664+407A>C) c.706+407A>C (n.706+407A>C) c.*1202A>C (n.*1202A>C) c.670+1509A>C (n.670+1509A>C) c.545A>C c.*977A>C (n.*977A>C) c.787+407A>C (n.787+407A>C) c.791A>C c.409+407A>C (n.409+407A>C) c.412+407A>C (n.412+407A>C) c.*1130A>C (n.*1130A>C) c.5-30386A>C (n.5-30386A>C) c.-43-19816A>C (n.-43-19816A>C) c.-99+30934A>C (n.-99+30934A>C) n.1330A>C n.1371A>C | dbSNP |
17 | g.43094337dup | CA658824535 | BRCA1 | n.1258dup c.1194dup (p.His399ThrfsTer2) c.1068dup (p.His357ThrfsTer2) c.1191dup (p.His398ThrfsTer2) c.1116dup (p.His373ThrfsTer2) c.784+407dup (n.784+407dup) c.646+407dup (n.646+407dup) c.306dup (p.His103ThrfsTer2) c.1071dup (p.His358ThrfsTer2) c.1053dup (p.His352ThrfsTer2) c.664+407dup (n.664+407dup) c.706+407dup (n.706+407dup) c.*1202dup (n.*1202dup) c.670+1509dup (n.670+1509dup) c.545dup c.*977dup (n.*977dup) c.787+407dup (n.787+407dup) c.791dup c.409+407dup (n.409+407dup) c.412+407dup (n.412+407dup) c.*1130dup (n.*1130dup) c.5-30386dup (n.5-30386dup) c.-43-19816dup (n.-43-19816dup) c.-99+30934dup (n.-99+30934dup) n.1330dup n.1371dup | ClinVar dbSNP |
17 | g.43094338del | CA2733925658 | BRCA1 | n.1257del c.1193del (p.Ser398TyrfsTer12) c.1067del (p.Ser356TyrfsTer12) c.1190del (p.Ser397TyrfsTer12) c.1115del (p.Ser372TyrfsTer12) c.784+406del (n.784+406del) c.646+406del (n.646+406del) c.305del (p.Ser102TyrfsTer12) c.1070del (p.Ser357TyrfsTer12) c.1052del (p.Ser351TyrfsTer12) c.664+406del (n.664+406del) c.706+406del (n.706+406del) c.*1201del (n.*1201del) c.670+1508del (n.670+1508del) c.544del c.*976del (n.*976del) c.787+406del (n.787+406del) c.790del c.409+406del (n.409+406del) c.412+406del (n.412+406del) c.*1129del (n.*1129del) c.5-30387del (n.5-30387del) c.-43-19817del (n.-43-19817del) c.-99+30933del (n.-99+30933del) n.1329del n.1370del | dbSNP |
17 | g.43094338G>A | CA057085 | BRCA1 | n.1257C>T c.1193C>T (p.Ser398Leu) c.1067C>T (p.Ser356Leu) c.1190C>T (p.Ser397Leu) c.1115C>T (p.Ser372Leu) c.784+406C>T (n.784+406C>T) c.646+406C>T (n.646+406C>T) c.305C>T (p.Ser102Leu) c.1070C>T (p.Ser357Leu) c.1052C>T (p.Ser351Leu) c.664+406C>T (n.664+406C>T) c.706+406C>T (n.706+406C>T) c.*1201C>T (n.*1201C>T) c.670+1508C>T (n.670+1508C>T) c.544C>T c.*976C>T (n.*976C>T) c.787+406C>T (n.787+406C>T) c.790C>T c.409+406C>T (n.409+406C>T) c.412+406C>T (n.412+406C>T) c.*1129C>T (n.*1129C>T) c.5-30387C>T (n.5-30387C>T) c.-43-19817C>T (n.-43-19817C>T) c.-99+30933C>T (n.-99+30933C>T) n.1329C>T n.1370C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43094338G>C | CA000786 | BRCA1 | n.1257C>G c.1193C>G (p.Ser398Ter) c.1067C>G (p.Ser356Ter) c.1190C>G (p.Ser397Ter) c.1115C>G (p.Ser372Ter) c.784+406C>G (n.784+406C>G) c.646+406C>G (n.646+406C>G) c.305C>G (p.Ser102Ter) c.1070C>G (p.Ser357Ter) c.1052C>G (p.Ser351Ter) c.664+406C>G (n.664+406C>G) c.706+406C>G (n.706+406C>G) c.*1201C>G (n.*1201C>G) c.670+1508C>G (n.670+1508C>G) c.544C>G c.*976C>G (n.*976C>G) c.787+406C>G (n.787+406C>G) c.790C>G c.409+406C>G (n.409+406C>G) c.412+406C>G (n.412+406C>G) c.*1129C>G (n.*1129C>G) c.5-30387C>G (n.5-30387C>G) c.-43-19817C>G (n.-43-19817C>G) c.-99+30933C>G (n.-99+30933C>G) n.1329C>G n.1370C>G | ClinVar dbSNP |
17 | g.43094338G= | CA2260784840 | BRCA1 | n.1257C= c.1193C= (p.Ser398=) c.1067C= (p.Ser356=) c.1190C= (p.Ser397=) c.1115C= (p.Ser372=) c.784+406C= (n.784+406C=) c.646+406C= (n.646+406C=) c.305C= (p.Ser102=) c.1070C= (p.Ser357=) c.1052C= (p.Ser351=) c.664+406C= (n.664+406C=) c.706+406C= (n.706+406C=) c.*1201C= (n.*1201C=) c.670+1508C= (n.670+1508C=) c.544C= c.*976C= (n.*976C=) c.787+406C= (n.787+406C=) c.790C= c.409+406C= (n.409+406C=) c.412+406C= (n.412+406C=) c.*1129C= (n.*1129C=) c.5-30387C= (n.5-30387C=) c.-43-19817C= (n.-43-19817C=) c.-99+30933C= (n.-99+30933C=) n.1329C= n.1370C= | |
17 | g.43094338G>T | CA000785 | BRCA1 | n.1257C>A c.1193C>A (p.Ser398Ter) c.1067C>A (p.Ser356Ter) c.1190C>A (p.Ser397Ter) c.1115C>A (p.Ser372Ter) c.784+406C>A (n.784+406C>A) c.646+406C>A (n.646+406C>A) c.305C>A (p.Ser102Ter) c.1070C>A (p.Ser357Ter) c.1052C>A (p.Ser351Ter) c.664+406C>A (n.664+406C>A) c.706+406C>A (n.706+406C>A) c.*1201C>A (n.*1201C>A) c.670+1508C>A (n.670+1508C>A) c.544C>A c.*976C>A (n.*976C>A) c.787+406C>A (n.787+406C>A) c.790C>A c.409+406C>A (n.409+406C>A) c.412+406C>A (n.412+406C>A) c.*1129C>A (n.*1129C>A) c.5-30387C>A (n.5-30387C>A) c.-43-19817C>A (n.-43-19817C>A) c.-99+30933C>A (n.-99+30933C>A) n.1329C>A n.1370C>A | ClinVar dbSNP |
17 | g.43094339A= | CA2260784841 | BRCA1 | n.1256T= c.1192T= (p.Ser398=) c.1066T= (p.Ser356=) c.1189T= (p.Ser397=) c.1114T= (p.Ser372=) c.784+405T= (n.784+405T=) c.646+405T= (n.646+405T=) c.304T= (p.Ser102=) c.1069T= (p.Ser357=) c.1051T= (p.Ser351=) c.664+405T= (n.664+405T=) c.706+405T= (n.706+405T=) c.*1200T= (n.*1200T=) c.670+1507T= (n.670+1507T=) c.543T= c.*975T= (n.*975T=) c.787+405T= (n.787+405T=) c.789T= c.409+405T= (n.409+405T=) c.412+405T= (n.412+405T=) c.*1128T= (n.*1128T=) c.5-30388T= (n.5-30388T=) c.-43-19818T= (n.-43-19818T=) c.-99+30932T= (n.-99+30932T=) n.1328T= n.1369T= | |
17 | g.43094339A>C | CA10599664 | BRCA1 | n.1256T>G c.1192T>G (p.Ser398Ala) c.1066T>G (p.Ser356Ala) c.1189T>G (p.Ser397Ala) c.1114T>G (p.Ser372Ala) c.784+405T>G (n.784+405T>G) c.646+405T>G (n.646+405T>G) c.304T>G (p.Ser102Ala) c.1069T>G (p.Ser357Ala) c.1051T>G (p.Ser351Ala) c.664+405T>G (n.664+405T>G) c.706+405T>G (n.706+405T>G) c.*1200T>G (n.*1200T>G) c.670+1507T>G (n.670+1507T>G) c.543T>G c.*975T>G (n.*975T>G) c.787+405T>G (n.787+405T>G) c.789T>G c.409+405T>G (n.409+405T>G) c.412+405T>G (n.412+405T>G) c.*1128T>G (n.*1128T>G) c.5-30388T>G (n.5-30388T>G) c.-43-19818T>G (n.-43-19818T>G) c.-99+30932T>G (n.-99+30932T>G) n.1328T>G n.1369T>G | ClinVar dbSNP |
17 | g.43094339A>G | CA10599665 | BRCA1 | n.1256T>C c.1192T>C (p.Ser398Pro) c.1066T>C (p.Ser356Pro) c.1189T>C (p.Ser397Pro) c.1114T>C (p.Ser372Pro) c.784+405T>C (n.784+405T>C) c.646+405T>C (n.646+405T>C) c.304T>C (p.Ser102Pro) c.1069T>C (p.Ser357Pro) c.1051T>C (p.Ser351Pro) c.664+405T>C (n.664+405T>C) c.706+405T>C (n.706+405T>C) c.*1200T>C (n.*1200T>C) c.670+1507T>C (n.670+1507T>C) c.543T>C c.*975T>C (n.*975T>C) c.787+405T>C (n.787+405T>C) c.789T>C c.409+405T>C (n.409+405T>C) c.412+405T>C (n.412+405T>C) c.*1128T>C (n.*1128T>C) c.5-30388T>C (n.5-30388T>C) c.-43-19818T>C (n.-43-19818T>C) c.-99+30932T>C (n.-99+30932T>C) n.1328T>C n.1369T>C | dbSNP |
17 | g.43094339A>T | CA10599666 | BRCA1 | n.1256T>A c.1192T>A (p.Ser398Thr) c.1066T>A (p.Ser356Thr) c.1189T>A (p.Ser397Thr) c.1114T>A (p.Ser372Thr) c.784+405T>A (n.784+405T>A) c.646+405T>A (n.646+405T>A) c.304T>A (p.Ser102Thr) c.1069T>A (p.Ser357Thr) c.1051T>A (p.Ser351Thr) c.664+405T>A (n.664+405T>A) c.706+405T>A (n.706+405T>A) c.*1200T>A (n.*1200T>A) c.670+1507T>A (n.670+1507T>A) c.543T>A c.*975T>A (n.*975T>A) c.787+405T>A (n.787+405T>A) c.789T>A c.409+405T>A (n.409+405T>A) c.412+405T>A (n.412+405T>A) c.*1128T>A (n.*1128T>A) c.5-30388T>A (n.5-30388T>A) c.-43-19818T>A (n.-43-19818T>A) c.-99+30932T>A (n.-99+30932T>A) n.1328T>A n.1369T>A | dbSNP |
17 | g.43094340G>A | CA500233598 | BRCA1 | n.1255C>T c.1191C>T (p.Asp397=) c.1065C>T (p.Asp355=) c.1188C>T (p.Asp396=) c.1113C>T (p.Asp371=) c.784+404C>T (n.784+404C>T) c.646+404C>T (n.646+404C>T) c.303C>T (p.Asp101=) c.1068C>T (p.Asp356=) c.1050C>T (p.Asp350=) c.664+404C>T (n.664+404C>T) c.706+404C>T (n.706+404C>T) c.*1199C>T (n.*1199C>T) c.670+1506C>T (n.670+1506C>T) c.542C>T c.*974C>T (n.*974C>T) c.787+404C>T (n.787+404C>T) c.788C>T c.409+404C>T (n.409+404C>T) c.412+404C>T (n.412+404C>T) c.*1127C>T (n.*1127C>T) c.5-30389C>T (n.5-30389C>T) c.-43-19819C>T (n.-43-19819C>T) c.-99+30931C>T (n.-99+30931C>T) n.1327C>T n.1368C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43094340G>C | CA10599667 | BRCA1 | n.1255C>G c.1191C>G (p.Asp397Glu) c.1065C>G (p.Asp355Glu) c.1188C>G (p.Asp396Glu) c.1113C>G (p.Asp371Glu) c.784+404C>G (n.784+404C>G) c.646+404C>G (n.646+404C>G) c.303C>G (p.Asp101Glu) c.1068C>G (p.Asp356Glu) c.1050C>G (p.Asp350Glu) c.664+404C>G (n.664+404C>G) c.706+404C>G (n.706+404C>G) c.*1199C>G (n.*1199C>G) c.670+1506C>G (n.670+1506C>G) c.542C>G c.*974C>G (n.*974C>G) c.787+404C>G (n.787+404C>G) c.788C>G c.409+404C>G (n.409+404C>G) c.412+404C>G (n.412+404C>G) c.*1127C>G (n.*1127C>G) c.5-30389C>G (n.5-30389C>G) c.-43-19819C>G (n.-43-19819C>G) c.-99+30931C>G (n.-99+30931C>G) n.1327C>G n.1368C>G | dbSNP |
17 | g.43094340G>T | CA10599668 | BRCA1 | n.1255C>A c.1191C>A (p.Asp397Glu) c.1065C>A (p.Asp355Glu) c.1188C>A (p.Asp396Glu) c.1113C>A (p.Asp371Glu) c.784+404C>A (n.784+404C>A) c.646+404C>A (n.646+404C>A) c.303C>A (p.Asp101Glu) c.1068C>A (p.Asp356Glu) c.1050C>A (p.Asp350Glu) c.664+404C>A (n.664+404C>A) c.706+404C>A (n.706+404C>A) c.*1199C>A (n.*1199C>A) c.670+1506C>A (n.670+1506C>A) c.542C>A c.*974C>A (n.*974C>A) c.787+404C>A (n.787+404C>A) c.788C>A c.409+404C>A (n.409+404C>A) c.412+404C>A (n.412+404C>A) c.*1127C>A (n.*1127C>A) c.5-30389C>A (n.5-30389C>A) c.-43-19819C>A (n.-43-19819C>A) c.-99+30931C>A (n.-99+30931C>A) n.1327C>A n.1368C>A | dbSNP |
17 | g.43094340_43094341delinsGT | CA2260784842 | BRCA1 | n.1254_1255delinsAC c.1190_1191delinsAC (p.Asp397=) c.1064_1065delinsAC (p.Asp355=) c.1187_1188delinsAC (p.Asp396=) c.1112_1113delinsAC (p.Asp371=) c.784+403_784+404delinsAC (n.784+403_784+404delinsAC) c.646+403_646+404delinsAC (n.646+403_646+404delinsAC) c.302_303delinsAC (p.Asp101=) c.1067_1068delinsAC (p.Asp356=) c.1049_1050delinsAC (p.Asp350=) c.664+403_664+404delinsAC (n.664+403_664+404delinsAC) c.706+403_706+404delinsAC (n.706+403_706+404delinsAC) c.*1198_*1199delinsAC (n.*1198_*1199delinsAC) c.670+1505_670+1506delinsAC (n.670+1505_670+1506delinsAC) c.541_542delinsAC c.*973_*974delinsAC (n.*973_*974delinsAC) c.787+403_787+404delinsAC (n.787+403_787+404delinsAC) c.787_788delinsAC c.409+403_409+404delinsAC (n.409+403_409+404delinsAC) c.412+403_412+404delinsAC (n.412+403_412+404delinsAC) c.*1126_*1127delinsAC (n.*1126_*1127delinsAC) c.5-30390_5-30389delinsAC (n.5-30390_5-30389delinsAC) c.-43-19820_-43-19819delinsAC (n.-43-19820_-43-19819delinsAC) c.-99+30930_-99+30931delinsAC (n.-99+30930_-99+30931delinsAC) n.1326_1327delinsAC n.1367_1368delinsAC | |
17 | g.43094341del | CA057081 | BRCA1 | n.1254del c.1190del (p.Asp397AlafsTer13) c.1064del (p.Asp355AlafsTer13) c.1187del (p.Asp396AlafsTer13) c.1112del (p.Asp371AlafsTer13) c.784+403del (n.784+403del) c.646+403del (n.646+403del) c.302del (p.Asp101AlafsTer13) c.1067del (p.Asp356AlafsTer13) c.1049del (p.Asp350AlafsTer13) c.664+403del (n.664+403del) c.706+403del (n.706+403del) c.*1198del (n.*1198del) c.670+1505del (n.670+1505del) c.541del c.*973del (n.*973del) c.787+403del (n.787+403del) c.787del c.409+403del (n.409+403del) c.412+403del (n.412+403del) c.*1126del (n.*1126del) c.5-30390del (n.5-30390del) c.-43-19820del (n.-43-19820del) c.-99+30930del (n.-99+30930del) n.1326del n.1367del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43094341T>A | CA057074 | BRCA1 | n.1254A>T c.1190A>T (p.Asp397Val) c.1064A>T (p.Asp355Val) c.1187A>T (p.Asp396Val) c.1112A>T (p.Asp371Val) c.784+403A>T (n.784+403A>T) c.646+403A>T (n.646+403A>T) c.302A>T (p.Asp101Val) c.1067A>T (p.Asp356Val) c.1049A>T (p.Asp350Val) c.664+403A>T (n.664+403A>T) c.706+403A>T (n.706+403A>T) c.*1198A>T (n.*1198A>T) c.670+1505A>T (n.670+1505A>T) c.541A>T c.*973A>T (n.*973A>T) c.787+403A>T (n.787+403A>T) c.787A>T c.409+403A>T (n.409+403A>T) c.412+403A>T (n.412+403A>T) c.*1126A>T (n.*1126A>T) c.5-30390A>T (n.5-30390A>T) c.-43-19820A>T (n.-43-19820A>T) c.-99+30930A>T (n.-99+30930A>T) n.1326A>T n.1367A>T | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.43094341T>C | CA10599669 | BRCA1 | n.1254A>G c.1190A>G (p.Asp397Gly) c.1064A>G (p.Asp355Gly) c.1187A>G (p.Asp396Gly) c.1112A>G (p.Asp371Gly) c.784+403A>G (n.784+403A>G) c.646+403A>G (n.646+403A>G) c.302A>G (p.Asp101Gly) c.1067A>G (p.Asp356Gly) c.1049A>G (p.Asp350Gly) c.664+403A>G (n.664+403A>G) c.706+403A>G (n.706+403A>G) c.*1198A>G (n.*1198A>G) c.670+1505A>G (n.670+1505A>G) c.541A>G c.*973A>G (n.*973A>G) c.787+403A>G (n.787+403A>G) c.787A>G c.409+403A>G (n.409+403A>G) c.412+403A>G (n.412+403A>G) c.*1126A>G (n.*1126A>G) c.5-30390A>G (n.5-30390A>G) c.-43-19820A>G (n.-43-19820A>G) c.-99+30930A>G (n.-99+30930A>G) n.1326A>G n.1367A>G | dbSNP |