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.43094346A>C | CA500233614 | BRCA1 | n.1249T>G c.1185T>G (p.Ser395=) c.1059T>G (p.Ser353=) c.1182T>G (p.Ser394=) c.1107T>G (p.Ser369=) c.784+398T>G (n.784+398T>G) c.646+398T>G (n.646+398T>G) c.297T>G (p.Ser99=) c.1062T>G (p.Ser354=) c.1044T>G (p.Ser348=) c.664+398T>G (n.664+398T>G) c.706+398T>G (n.706+398T>G) c.*1193T>G (n.*1193T>G) c.670+1500T>G (n.670+1500T>G) c.536T>G c.*968T>G (n.*968T>G) c.787+398T>G (n.787+398T>G) c.782T>G c.409+398T>G (n.409+398T>G) c.412+398T>G (n.412+398T>G) c.*1121T>G (n.*1121T>G) c.5-30395T>G (n.5-30395T>G) c.-43-19825T>G (n.-43-19825T>G) c.-99+30925T>G (n.-99+30925T>G) n.1321T>G n.1362T>G | |
17 | g.43094346A>G | CA500233615 | BRCA1 | n.1249T>C c.1185T>C (p.Ser395=) c.1059T>C (p.Ser353=) c.1182T>C (p.Ser394=) c.1107T>C (p.Ser369=) c.784+398T>C (n.784+398T>C) c.646+398T>C (n.646+398T>C) c.297T>C (p.Ser99=) c.1062T>C (p.Ser354=) c.1044T>C (p.Ser348=) c.664+398T>C (n.664+398T>C) c.706+398T>C (n.706+398T>C) c.*1193T>C (n.*1193T>C) c.670+1500T>C (n.670+1500T>C) c.536T>C c.*968T>C (n.*968T>C) c.787+398T>C (n.787+398T>C) c.782T>C c.409+398T>C (n.409+398T>C) c.412+398T>C (n.412+398T>C) c.*1121T>C (n.*1121T>C) c.5-30395T>C (n.5-30395T>C) c.-43-19825T>C (n.-43-19825T>C) c.-99+30925T>C (n.-99+30925T>C) n.1321T>C n.1362T>C | dbSNP |
17 | g.43094346A>T | CA500233616 | BRCA1 | n.1249T>A c.1185T>A (p.Ser395=) c.1059T>A (p.Ser353=) c.1182T>A (p.Ser394=) c.1107T>A (p.Ser369=) c.784+398T>A (n.784+398T>A) c.646+398T>A (n.646+398T>A) c.297T>A (p.Ser99=) c.1062T>A (p.Ser354=) c.1044T>A (p.Ser348=) c.664+398T>A (n.664+398T>A) c.706+398T>A (n.706+398T>A) c.*1193T>A (n.*1193T>A) c.670+1500T>A (n.670+1500T>A) c.536T>A c.*968T>A (n.*968T>A) c.787+398T>A (n.787+398T>A) c.782T>A c.409+398T>A (n.409+398T>A) c.412+398T>A (n.412+398T>A) c.*1121T>A (n.*1121T>A) c.5-30395T>A (n.5-30395T>A) c.-43-19825T>A (n.-43-19825T>A) c.-99+30925T>A (n.-99+30925T>A) n.1321T>A n.1362T>A | dbSNP |
17 | g.43094347G>A | CA10599681 | BRCA1 | n.1248C>T c.1184C>T (p.Ser395Phe) c.1058C>T (p.Ser353Phe) c.1181C>T (p.Ser394Phe) c.1106C>T (p.Ser369Phe) c.784+397C>T (n.784+397C>T) c.646+397C>T (n.646+397C>T) c.296C>T (p.Ser99Phe) c.1061C>T (p.Ser354Phe) c.1043C>T (p.Ser348Phe) c.664+397C>T (n.664+397C>T) c.706+397C>T (n.706+397C>T) c.*1192C>T (n.*1192C>T) c.670+1499C>T (n.670+1499C>T) c.535C>T c.*967C>T (n.*967C>T) c.787+397C>T (n.787+397C>T) c.781C>T c.409+397C>T (n.409+397C>T) c.412+397C>T (n.412+397C>T) c.*1120C>T (n.*1120C>T) c.5-30396C>T (n.5-30396C>T) c.-43-19826C>T (n.-43-19826C>T) c.-99+30924C>T (n.-99+30924C>T) n.1320C>T n.1361C>T | dbSNP |
17 | g.43094347G>C | CA10599682 | BRCA1 | n.1248C>G c.1184C>G (p.Ser395Cys) c.1058C>G (p.Ser353Cys) c.1181C>G (p.Ser394Cys) c.1106C>G (p.Ser369Cys) c.784+397C>G (n.784+397C>G) c.646+397C>G (n.646+397C>G) c.296C>G (p.Ser99Cys) c.1061C>G (p.Ser354Cys) c.1043C>G (p.Ser348Cys) c.664+397C>G (n.664+397C>G) c.706+397C>G (n.706+397C>G) c.*1192C>G (n.*1192C>G) c.670+1499C>G (n.670+1499C>G) c.535C>G c.*967C>G (n.*967C>G) c.787+397C>G (n.787+397C>G) c.781C>G c.409+397C>G (n.409+397C>G) c.412+397C>G (n.412+397C>G) c.*1120C>G (n.*1120C>G) c.5-30396C>G (n.5-30396C>G) c.-43-19826C>G (n.-43-19826C>G) c.-99+30924C>G (n.-99+30924C>G) n.1320C>G n.1361C>G | |
17 | g.43094347G>T | CA10599683 | BRCA1 | n.1248C>A c.1184C>A (p.Ser395Tyr) c.1058C>A (p.Ser353Tyr) c.1181C>A (p.Ser394Tyr) c.1106C>A (p.Ser369Tyr) c.784+397C>A (n.784+397C>A) c.646+397C>A (n.646+397C>A) c.296C>A (p.Ser99Tyr) c.1061C>A (p.Ser354Tyr) c.1043C>A (p.Ser348Tyr) c.664+397C>A (n.664+397C>A) c.706+397C>A (n.706+397C>A) c.*1192C>A (n.*1192C>A) c.670+1499C>A (n.670+1499C>A) c.535C>A c.*967C>A (n.*967C>A) c.787+397C>A (n.787+397C>A) c.781C>A c.409+397C>A (n.409+397C>A) c.412+397C>A (n.412+397C>A) c.*1120C>A (n.*1120C>A) c.5-30396C>A (n.5-30396C>A) c.-43-19826C>A (n.-43-19826C>A) c.-99+30924C>A (n.-99+30924C>A) n.1320C>A n.1361C>A | |
17 | g.43094348A>C | CA10599684 | BRCA1 | n.1247T>G c.1183T>G (p.Ser395Ala) c.1057T>G (p.Ser353Ala) c.1180T>G (p.Ser394Ala) c.1105T>G (p.Ser369Ala) c.784+396T>G (n.784+396T>G) c.646+396T>G (n.646+396T>G) c.295T>G (p.Ser99Ala) c.1060T>G (p.Ser354Ala) c.1042T>G (p.Ser348Ala) c.664+396T>G (n.664+396T>G) c.706+396T>G (n.706+396T>G) c.*1191T>G (n.*1191T>G) c.670+1498T>G (n.670+1498T>G) c.534T>G c.*966T>G (n.*966T>G) c.787+396T>G (n.787+396T>G) c.780T>G c.409+396T>G (n.409+396T>G) c.412+396T>G (n.412+396T>G) c.*1119T>G (n.*1119T>G) c.5-30397T>G (n.5-30397T>G) c.-43-19827T>G (n.-43-19827T>G) c.-99+30923T>G (n.-99+30923T>G) n.1319T>G n.1360T>G | dbSNP |
17 | g.43094348A>G | CA10599685 | BRCA1 | n.1247T>C c.1183T>C (p.Ser395Pro) c.1057T>C (p.Ser353Pro) c.1180T>C (p.Ser394Pro) c.1105T>C (p.Ser369Pro) c.784+396T>C (n.784+396T>C) c.646+396T>C (n.646+396T>C) c.295T>C (p.Ser99Pro) c.1060T>C (p.Ser354Pro) c.1042T>C (p.Ser348Pro) c.664+396T>C (n.664+396T>C) c.706+396T>C (n.706+396T>C) c.*1191T>C (n.*1191T>C) c.670+1498T>C (n.670+1498T>C) c.534T>C c.*966T>C (n.*966T>C) c.787+396T>C (n.787+396T>C) c.780T>C c.409+396T>C (n.409+396T>C) c.412+396T>C (n.412+396T>C) c.*1119T>C (n.*1119T>C) c.5-30397T>C (n.5-30397T>C) c.-43-19827T>C (n.-43-19827T>C) c.-99+30923T>C (n.-99+30923T>C) n.1319T>C n.1360T>C | dbSNP |
17 | g.43094348A>T | CA10599686 | BRCA1 | n.1247T>A c.1183T>A (p.Ser395Thr) c.1057T>A (p.Ser353Thr) c.1180T>A (p.Ser394Thr) c.1105T>A (p.Ser369Thr) c.784+396T>A (n.784+396T>A) c.646+396T>A (n.646+396T>A) c.295T>A (p.Ser99Thr) c.1060T>A (p.Ser354Thr) c.1042T>A (p.Ser348Thr) c.664+396T>A (n.664+396T>A) c.706+396T>A (n.706+396T>A) c.*1191T>A (n.*1191T>A) c.670+1498T>A (n.670+1498T>A) c.534T>A c.*966T>A (n.*966T>A) c.787+396T>A (n.787+396T>A) c.780T>A c.409+396T>A (n.409+396T>A) c.412+396T>A (n.412+396T>A) c.*1119T>A (n.*1119T>A) c.5-30397T>A (n.5-30397T>A) c.-43-19827T>A (n.-43-19827T>A) c.-99+30923T>A (n.-99+30923T>A) n.1319T>A n.1360T>A | dbSNP |
17 | g.43094349A>C | CA500233623 | BRCA1 | n.1246T>G c.1182T>G (p.Gly394=) c.1056T>G (p.Gly352=) c.1179T>G (p.Gly393=) c.1104T>G (p.Gly368=) c.784+395T>G (n.784+395T>G) c.646+395T>G (n.646+395T>G) c.294T>G (p.Gly98=) c.1059T>G (p.Gly353=) c.1041T>G (p.Gly347=) c.664+395T>G (n.664+395T>G) c.706+395T>G (n.706+395T>G) c.*1190T>G (n.*1190T>G) c.670+1497T>G (n.670+1497T>G) c.533T>G c.*965T>G (n.*965T>G) c.787+395T>G (n.787+395T>G) c.779T>G c.409+395T>G (n.409+395T>G) c.412+395T>G (n.412+395T>G) c.*1118T>G (n.*1118T>G) c.5-30398T>G (n.5-30398T>G) c.-43-19828T>G (n.-43-19828T>G) c.-99+30922T>G (n.-99+30922T>G) n.1318T>G n.1359T>G | dbSNP |
17 | g.43094349A>G | CA500233625 | BRCA1 | n.1246T>C c.1182T>C (p.Gly394=) c.1056T>C (p.Gly352=) c.1179T>C (p.Gly393=) c.1104T>C (p.Gly368=) c.784+395T>C (n.784+395T>C) c.646+395T>C (n.646+395T>C) c.294T>C (p.Gly98=) c.1059T>C (p.Gly353=) c.1041T>C (p.Gly347=) c.664+395T>C (n.664+395T>C) c.706+395T>C (n.706+395T>C) c.*1190T>C (n.*1190T>C) c.670+1497T>C (n.670+1497T>C) c.533T>C c.*965T>C (n.*965T>C) c.787+395T>C (n.787+395T>C) c.779T>C c.409+395T>C (n.409+395T>C) c.412+395T>C (n.412+395T>C) c.*1118T>C (n.*1118T>C) c.5-30398T>C (n.5-30398T>C) c.-43-19828T>C (n.-43-19828T>C) c.-99+30922T>C (n.-99+30922T>C) n.1318T>C n.1359T>C | dbSNP gnomAD v4 |
17 | g.43094349A>T | CA500233626 | BRCA1 | n.1246T>A c.1182T>A (p.Gly394=) c.1056T>A (p.Gly352=) c.1179T>A (p.Gly393=) c.1104T>A (p.Gly368=) c.784+395T>A (n.784+395T>A) c.646+395T>A (n.646+395T>A) c.294T>A (p.Gly98=) c.1059T>A (p.Gly353=) c.1041T>A (p.Gly347=) c.664+395T>A (n.664+395T>A) c.706+395T>A (n.706+395T>A) c.*1190T>A (n.*1190T>A) c.670+1497T>A (n.670+1497T>A) c.533T>A c.*965T>A (n.*965T>A) c.787+395T>A (n.787+395T>A) c.779T>A c.409+395T>A (n.409+395T>A) c.412+395T>A (n.412+395T>A) c.*1118T>A (n.*1118T>A) c.5-30398T>A (n.5-30398T>A) c.-43-19828T>A (n.-43-19828T>A) c.-99+30922T>A (n.-99+30922T>A) n.1318T>A n.1359T>A | ClinVar dbSNP |
17 | g.43094350C>A | CA10599687 | BRCA1 | n.1245G>T c.1181G>T (p.Gly394Val) c.1055G>T (p.Gly352Val) c.1178G>T (p.Gly393Val) c.1103G>T (p.Gly368Val) c.784+394G>T (n.784+394G>T) c.646+394G>T (n.646+394G>T) c.293G>T (p.Gly98Val) c.1058G>T (p.Gly353Val) c.1040G>T (p.Gly347Val) c.664+394G>T (n.664+394G>T) c.706+394G>T (n.706+394G>T) c.*1189G>T (n.*1189G>T) c.670+1496G>T (n.670+1496G>T) c.532G>T c.*964G>T (n.*964G>T) c.787+394G>T (n.787+394G>T) c.778G>T c.409+394G>T (n.409+394G>T) c.412+394G>T (n.412+394G>T) c.*1117G>T (n.*1117G>T) c.5-30399G>T (n.5-30399G>T) c.-43-19829G>T (n.-43-19829G>T) c.-99+30921G>T (n.-99+30921G>T) n.1317G>T n.1358G>T | ClinVar dbSNP |
17 | g.43094350C= | CA2260784847 | BRCA1 | n.1245G= c.1181G= (p.Gly394=) c.1055G= (p.Gly352=) c.1178G= (p.Gly393=) c.1103G= (p.Gly368=) c.784+394G= (n.784+394G=) c.646+394G= (n.646+394G=) c.293G= (p.Gly98=) c.1058G= (p.Gly353=) c.1040G= (p.Gly347=) c.664+394G= (n.664+394G=) c.706+394G= (n.706+394G=) c.*1189G= (n.*1189G=) c.670+1496G= (n.670+1496G=) c.532G= c.*964G= (n.*964G=) c.787+394G= (n.787+394G=) c.778G= c.409+394G= (n.409+394G=) c.412+394G= (n.412+394G=) c.*1117G= (n.*1117G=) c.5-30399G= (n.5-30399G=) c.-43-19829G= (n.-43-19829G=) c.-99+30921G= (n.-99+30921G=) n.1317G= n.1358G= | |
17 | g.43094350C>G | CA10599688 | BRCA1 | n.1245G>C c.1181G>C (p.Gly394Ala) c.1055G>C (p.Gly352Ala) c.1178G>C (p.Gly393Ala) c.1103G>C (p.Gly368Ala) c.784+394G>C (n.784+394G>C) c.646+394G>C (n.646+394G>C) c.293G>C (p.Gly98Ala) c.1058G>C (p.Gly353Ala) c.1040G>C (p.Gly347Ala) c.664+394G>C (n.664+394G>C) c.706+394G>C (n.706+394G>C) c.*1189G>C (n.*1189G>C) c.670+1496G>C (n.670+1496G>C) c.532G>C c.*964G>C (n.*964G>C) c.787+394G>C (n.787+394G>C) c.778G>C c.409+394G>C (n.409+394G>C) c.412+394G>C (n.412+394G>C) c.*1117G>C (n.*1117G>C) c.5-30399G>C (n.5-30399G>C) c.-43-19829G>C (n.-43-19829G>C) c.-99+30921G>C (n.-99+30921G>C) n.1317G>C n.1358G>C | dbSNP |
17 | g.43094350C>T | CA10599689 | BRCA1 | n.1245G>A c.1181G>A (p.Gly394Asp) c.1055G>A (p.Gly352Asp) c.1178G>A (p.Gly393Asp) c.1103G>A (p.Gly368Asp) c.784+394G>A (n.784+394G>A) c.646+394G>A (n.646+394G>A) c.293G>A (p.Gly98Asp) c.1058G>A (p.Gly353Asp) c.1040G>A (p.Gly347Asp) c.664+394G>A (n.664+394G>A) c.706+394G>A (n.706+394G>A) c.*1189G>A (n.*1189G>A) c.670+1496G>A (n.670+1496G>A) c.532G>A c.*964G>A (n.*964G>A) c.787+394G>A (n.787+394G>A) c.778G>A c.409+394G>A (n.409+394G>A) c.412+394G>A (n.412+394G>A) c.*1117G>A (n.*1117G>A) c.5-30399G>A (n.5-30399G>A) c.-43-19829G>A (n.-43-19829G>A) c.-99+30921G>A (n.-99+30921G>A) n.1317G>A n.1358G>A | ClinVar dbSNP |
17 | g.43094350_43094351insA | CA658824536 | BRCA1 | n.1244_1245insT c.1180_1181insT (p.Gly394ValfsTer3) c.1054_1055insT (p.Gly352ValfsTer3) c.1177_1178insT (p.Gly393ValfsTer3) c.1102_1103insT (p.Gly368ValfsTer3) c.784+393_784+394insT (n.784+393_784+394insT) c.646+393_646+394insT (n.646+393_646+394insT) c.292_293insT (p.Gly98ValfsTer3) c.1057_1058insT (p.Gly353ValfsTer3) c.1039_1040insT (p.Gly347ValfsTer3) c.664+393_664+394insT (n.664+393_664+394insT) c.706+393_706+394insT (n.706+393_706+394insT) c.*1188_*1189insT (n.*1188_*1189insT) c.670+1495_670+1496insT (n.670+1495_670+1496insT) c.531_532insT c.*963_*964insT (n.*963_*964insT) c.787+393_787+394insT (n.787+393_787+394insT) c.777_778insT c.409+393_409+394insT (n.409+393_409+394insT) c.412+393_412+394insT (n.412+393_412+394insT) c.*1116_*1117insT (n.*1116_*1117insT) c.5-30400_5-30399insT (n.5-30400_5-30399insT) c.-43-19830_-43-19829insT (n.-43-19830_-43-19829insT) c.-99+30920_-99+30921insT (n.-99+30920_-99+30921insT) n.1316_1317insT n.1357_1358insT | ClinVar dbSNP |
17 | g.43094351C>A | CA10599690 | BRCA1 | n.1244G>T c.1180G>T (p.Gly394Cys) c.1054G>T (p.Gly352Cys) c.1177G>T (p.Gly393Cys) c.1102G>T (p.Gly368Cys) c.784+393G>T (n.784+393G>T) c.646+393G>T (n.646+393G>T) c.292G>T (p.Gly98Cys) c.1057G>T (p.Gly353Cys) c.1039G>T (p.Gly347Cys) c.664+393G>T (n.664+393G>T) c.706+393G>T (n.706+393G>T) c.*1188G>T (n.*1188G>T) c.670+1495G>T (n.670+1495G>T) c.531G>T c.*963G>T (n.*963G>T) c.787+393G>T (n.787+393G>T) c.777G>T c.409+393G>T (n.409+393G>T) c.412+393G>T (n.412+393G>T) c.*1116G>T (n.*1116G>T) c.5-30400G>T (n.5-30400G>T) c.-43-19830G>T (n.-43-19830G>T) c.-99+30920G>T (n.-99+30920G>T) n.1316G>T n.1357G>T | dbSNP |
17 | g.43094351C= | CA2260784848 | BRCA1 | n.1244G= c.1180G= (p.Gly394=) c.1054G= (p.Gly352=) c.1177G= (p.Gly393=) c.1102G= (p.Gly368=) c.784+393G= (n.784+393G=) c.646+393G= (n.646+393G=) c.292G= (p.Gly98=) c.1057G= (p.Gly353=) c.1039G= (p.Gly347=) c.664+393G= (n.664+393G=) c.706+393G= (n.706+393G=) c.*1188G= (n.*1188G=) c.670+1495G= (n.670+1495G=) c.531G= c.*963G= (n.*963G=) c.787+393G= (n.787+393G=) c.777G= c.409+393G= (n.409+393G=) c.412+393G= (n.412+393G=) c.*1116G= (n.*1116G=) c.5-30400G= (n.5-30400G=) c.-43-19830G= (n.-43-19830G=) c.-99+30920G= (n.-99+30920G=) n.1316G= n.1357G= | |
17 | g.43094351C>G | CA057066 | BRCA1 | n.1244G>C c.1180G>C (p.Gly394Arg) c.1054G>C (p.Gly352Arg) c.1177G>C (p.Gly393Arg) c.1102G>C (p.Gly368Arg) c.784+393G>C (n.784+393G>C) c.646+393G>C (n.646+393G>C) c.292G>C (p.Gly98Arg) c.1057G>C (p.Gly353Arg) c.1039G>C (p.Gly347Arg) c.664+393G>C (n.664+393G>C) c.706+393G>C (n.706+393G>C) c.*1188G>C (n.*1188G>C) c.670+1495G>C (n.670+1495G>C) c.531G>C c.*963G>C (n.*963G>C) c.787+393G>C (n.787+393G>C) c.777G>C c.409+393G>C (n.409+393G>C) c.412+393G>C (n.412+393G>C) c.*1116G>C (n.*1116G>C) c.5-30400G>C (n.5-30400G>C) c.-43-19830G>C (n.-43-19830G>C) c.-99+30920G>C (n.-99+30920G>C) n.1316G>C n.1357G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43094351C>T | CA10599691 | BRCA1 | n.1244G>A c.1180G>A (p.Gly394Ser) c.1054G>A (p.Gly352Ser) c.1177G>A (p.Gly393Ser) c.1102G>A (p.Gly368Ser) c.784+393G>A (n.784+393G>A) c.646+393G>A (n.646+393G>A) c.292G>A (p.Gly98Ser) c.1057G>A (p.Gly353Ser) c.1039G>A (p.Gly347Ser) c.664+393G>A (n.664+393G>A) c.706+393G>A (n.706+393G>A) c.*1188G>A (n.*1188G>A) c.670+1495G>A (n.670+1495G>A) c.531G>A c.*963G>A (n.*963G>A) c.787+393G>A (n.787+393G>A) c.777G>A c.409+393G>A (n.409+393G>A) c.412+393G>A (n.412+393G>A) c.*1116G>A (n.*1116G>A) c.5-30400G>A (n.5-30400G>A) c.-43-19830G>A (n.-43-19830G>A) c.-99+30920G>A (n.-99+30920G>A) n.1316G>A n.1357G>A | ClinVar dbSNP |
17 | g.43094351_43094352dup | CA658798850 | BRCA1 | n.1243_1244dup c.1179_1180dup (p.Gly394GlufsTer17) c.1053_1054dup (p.Gly352GlufsTer17) c.1176_1177dup (p.Gly393GlufsTer17) c.1101_1102dup (p.Gly368GlufsTer17) c.784+392_784+393dup (n.784+392_784+393dup) c.646+392_646+393dup (n.646+392_646+393dup) c.291_292dup (p.Gly98GlufsTer17) c.1056_1057dup (p.Gly353GlufsTer17) c.1038_1039dup (p.Gly347GlufsTer17) c.664+392_664+393dup (n.664+392_664+393dup) c.706+392_706+393dup (n.706+392_706+393dup) c.*1187_*1188dup (n.*1187_*1188dup) c.670+1494_670+1495dup (n.670+1494_670+1495dup) c.530_531dup c.*962_*963dup (n.*962_*963dup) c.787+392_787+393dup (n.787+392_787+393dup) c.776_777dup c.409+392_409+393dup (n.409+392_409+393dup) c.412+392_412+393dup (n.412+392_412+393dup) c.*1115_*1116dup (n.*1115_*1116dup) c.5-30401_5-30400dup (n.5-30401_5-30400dup) c.-43-19831_-43-19830dup (n.-43-19831_-43-19830dup) c.-99+30919_-99+30920dup (n.-99+30919_-99+30920dup) n.1315_1316dup n.1356_1357dup | ClinVar dbSNP |
17 | g.43094351_43094352insA | CA10589962 | BRCA1 | n.1243_1244insT c.1179_1180insT (p.Gly394TrpfsTer3) c.1053_1054insT (p.Gly352TrpfsTer3) c.1176_1177insT (p.Gly393TrpfsTer3) c.1101_1102insT (p.Gly368TrpfsTer3) c.784+392_784+393insT (n.784+392_784+393insT) c.646+392_646+393insT (n.646+392_646+393insT) c.291_292insT (p.Gly98TrpfsTer3) c.1056_1057insT (p.Gly353TrpfsTer3) c.1038_1039insT (p.Gly347TrpfsTer3) c.664+392_664+393insT (n.664+392_664+393insT) c.706+392_706+393insT (n.706+392_706+393insT) c.*1187_*1188insT (n.*1187_*1188insT) c.670+1494_670+1495insT (n.670+1494_670+1495insT) c.530_531insT c.*962_*963insT (n.*962_*963insT) c.787+392_787+393insT (n.787+392_787+393insT) c.776_777insT c.409+392_409+393insT (n.409+392_409+393insT) c.412+392_412+393insT (n.412+392_412+393insT) c.*1115_*1116insT (n.*1115_*1116insT) c.5-30401_5-30400insT (n.5-30401_5-30400insT) c.-43-19831_-43-19830insT (n.-43-19831_-43-19830insT) c.-99+30919_-99+30920insT (n.-99+30919_-99+30920insT) n.1315_1316insT n.1356_1357insT | ClinVar dbSNP |
17 | g.43094352T>A | CA10599692 | BRCA1 | n.1243A>T c.1179A>T (p.Leu393Phe) c.1053A>T (p.Leu351Phe) c.1176A>T (p.Leu392Phe) c.1101A>T (p.Leu367Phe) c.784+392A>T (n.784+392A>T) c.646+392A>T (n.646+392A>T) c.291A>T (p.Leu97Phe) c.1056A>T (p.Leu352Phe) c.1038A>T (p.Leu346Phe) c.664+392A>T (n.664+392A>T) c.706+392A>T (n.706+392A>T) c.*1187A>T (n.*1187A>T) c.670+1494A>T (n.670+1494A>T) c.530A>T c.*962A>T (n.*962A>T) c.787+392A>T (n.787+392A>T) c.776A>T c.409+392A>T (n.409+392A>T) c.412+392A>T (n.412+392A>T) c.*1115A>T (n.*1115A>T) c.5-30401A>T (n.5-30401A>T) c.-43-19831A>T (n.-43-19831A>T) c.-99+30919A>T (n.-99+30919A>T) n.1315A>T n.1356A>T | |
17 | g.43094352T>C | CA500233631 | BRCA1 | n.1243A>G c.1179A>G (p.Leu393=) c.1053A>G (p.Leu351=) c.1176A>G (p.Leu392=) c.1101A>G (p.Leu367=) c.784+392A>G (n.784+392A>G) c.646+392A>G (n.646+392A>G) c.291A>G (p.Leu97=) c.1056A>G (p.Leu352=) c.1038A>G (p.Leu346=) c.664+392A>G (n.664+392A>G) c.706+392A>G (n.706+392A>G) c.*1187A>G (n.*1187A>G) c.670+1494A>G (n.670+1494A>G) c.530A>G c.*962A>G (n.*962A>G) c.787+392A>G (n.787+392A>G) c.776A>G c.409+392A>G (n.409+392A>G) c.412+392A>G (n.412+392A>G) c.*1115A>G (n.*1115A>G) c.5-30401A>G (n.5-30401A>G) c.-43-19831A>G (n.-43-19831A>G) c.-99+30919A>G (n.-99+30919A>G) n.1315A>G n.1356A>G | |
17 | g.43094352T>G | CA10599693 | BRCA1 | n.1243A>C c.1179A>C (p.Leu393Phe) c.1053A>C (p.Leu351Phe) c.1176A>C (p.Leu392Phe) c.1101A>C (p.Leu367Phe) c.784+392A>C (n.784+392A>C) c.646+392A>C (n.646+392A>C) c.291A>C (p.Leu97Phe) c.1056A>C (p.Leu352Phe) c.1038A>C (p.Leu346Phe) c.664+392A>C (n.664+392A>C) c.706+392A>C (n.706+392A>C) c.*1187A>C (n.*1187A>C) c.670+1494A>C (n.670+1494A>C) c.530A>C c.*962A>C (n.*962A>C) c.787+392A>C (n.787+392A>C) c.776A>C c.409+392A>C (n.409+392A>C) c.412+392A>C (n.412+392A>C) c.*1115A>C (n.*1115A>C) c.5-30401A>C (n.5-30401A>C) c.-43-19831A>C (n.-43-19831A>C) c.-99+30919A>C (n.-99+30919A>C) n.1315A>C n.1356A>C | |
17 | g.43094352_43094356delinsTAACA | CA2260784849 | BRCA1 | n.1239_1243delinsTGTTA c.1175_1179delinsTGTTA (p.Leu392=) c.1049_1053delinsTGTTA (p.Leu350=) c.1172_1176delinsTGTTA (p.Leu391=) c.1097_1101delinsTGTTA (p.Leu366=) c.784+388_784+392delinsTGTTA (n.784+388_784+392delinsTGTTA) c.646+388_646+392delinsTGTTA (n.646+388_646+392delinsTGTTA) c.287_291delinsTGTTA (p.Leu96=) c.1052_1056delinsTGTTA (p.Leu351=) c.1034_1038delinsTGTTA (p.Leu345=) c.664+388_664+392delinsTGTTA (n.664+388_664+392delinsTGTTA) c.706+388_706+392delinsTGTTA (n.706+388_706+392delinsTGTTA) c.*1183_*1187delinsTGTTA (n.*1183_*1187delinsTGTTA) c.670+1490_670+1494delinsTGTTA (n.670+1490_670+1494delinsTGTTA) c.526_530delinsTGTTA c.*958_*962delinsTGTTA (n.*958_*962delinsTGTTA) c.787+388_787+392delinsTGTTA (n.787+388_787+392delinsTGTTA) c.772_776delinsTGTTA c.409+388_409+392delinsTGTTA (n.409+388_409+392delinsTGTTA) c.412+388_412+392delinsTGTTA (n.412+388_412+392delinsTGTTA) c.*1111_*1115delinsTGTTA (n.*1111_*1115delinsTGTTA) c.5-30405_5-30401delinsTGTTA (n.5-30405_5-30401delinsTGTTA) c.-43-19835_-43-19831delinsTGTTA (n.-43-19835_-43-19831delinsTGTTA) c.-99+30915_-99+30919delinsTGTTA (n.-99+30915_-99+30919delinsTGTTA) n.1311_1315delinsTGTTA n.1352_1356delinsTGTTA | |
17 | g.43094353A>C | CA10599694 | BRCA1 | n.1242T>G c.1178T>G (p.Leu393Ter) c.1052T>G (p.Leu351Ter) c.1175T>G (p.Leu392Ter) c.1100T>G (p.Leu367Ter) c.784+391T>G (n.784+391T>G) c.646+391T>G (n.646+391T>G) c.290T>G (p.Leu97Ter) c.1055T>G (p.Leu352Ter) c.1037T>G (p.Leu346Ter) c.664+391T>G (n.664+391T>G) c.706+391T>G (n.706+391T>G) c.*1186T>G (n.*1186T>G) c.670+1493T>G (n.670+1493T>G) c.529T>G c.*961T>G (n.*961T>G) c.787+391T>G (n.787+391T>G) c.775T>G c.409+391T>G (n.409+391T>G) c.412+391T>G (n.412+391T>G) c.*1114T>G (n.*1114T>G) c.5-30402T>G (n.5-30402T>G) c.-43-19832T>G (n.-43-19832T>G) c.-99+30918T>G (n.-99+30918T>G) n.1314T>G n.1355T>G | dbSNP |
17 | g.43094353A>G | CA10599695 | BRCA1 | n.1242T>C c.1178T>C (p.Leu393Ser) c.1052T>C (p.Leu351Ser) c.1175T>C (p.Leu392Ser) c.1100T>C (p.Leu367Ser) c.784+391T>C (n.784+391T>C) c.646+391T>C (n.646+391T>C) c.290T>C (p.Leu97Ser) c.1055T>C (p.Leu352Ser) c.1037T>C (p.Leu346Ser) c.664+391T>C (n.664+391T>C) c.706+391T>C (n.706+391T>C) c.*1186T>C (n.*1186T>C) c.670+1493T>C (n.670+1493T>C) c.529T>C c.*961T>C (n.*961T>C) c.787+391T>C (n.787+391T>C) c.775T>C c.409+391T>C (n.409+391T>C) c.412+391T>C (n.412+391T>C) c.*1114T>C (n.*1114T>C) c.5-30402T>C (n.5-30402T>C) c.-43-19832T>C (n.-43-19832T>C) c.-99+30918T>C (n.-99+30918T>C) n.1314T>C n.1355T>C | gnomAD v4 |