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.43094317G>A | CA10599622 | BRCA1 | n.1278C>T c.1214C>T (p.Ser405Leu) c.1088C>T (p.Ser363Leu) c.1211C>T (p.Ser404Leu) c.1136C>T (p.Ser379Leu) c.784+427C>T (n.784+427C>T) c.646+427C>T (n.646+427C>T) c.326C>T (p.Ser109Leu) c.1091C>T (p.Ser364Leu) c.1073C>T (p.Ser358Leu) c.664+427C>T (n.664+427C>T) c.706+427C>T (n.706+427C>T) c.*1222C>T (n.*1222C>T) c.670+1529C>T (n.670+1529C>T) c.565C>T c.*997C>T (n.*997C>T) c.787+427C>T (n.787+427C>T) c.811C>T c.409+427C>T (n.409+427C>T) c.412+427C>T (n.412+427C>T) c.*1150C>T (n.*1150C>T) c.5-30366C>T (n.5-30366C>T) c.-43-19796C>T (n.-43-19796C>T) c.-99+30954C>T (n.-99+30954C>T) n.1350C>T n.1391C>T | ClinVar dbSNP |
17 | g.43094317G>C | CA000798 | BRCA1 | n.1278C>G c.1214C>G (p.Ser405Ter) c.1088C>G (p.Ser363Ter) c.1211C>G (p.Ser404Ter) c.1136C>G (p.Ser379Ter) c.784+427C>G (n.784+427C>G) c.646+427C>G (n.646+427C>G) c.326C>G (p.Ser109Ter) c.1091C>G (p.Ser364Ter) c.1073C>G (p.Ser358Ter) c.664+427C>G (n.664+427C>G) c.706+427C>G (n.706+427C>G) c.*1222C>G (n.*1222C>G) c.670+1529C>G (n.670+1529C>G) c.565C>G c.*997C>G (n.*997C>G) c.787+427C>G (n.787+427C>G) c.811C>G c.409+427C>G (n.409+427C>G) c.412+427C>G (n.412+427C>G) c.*1150C>G (n.*1150C>G) c.5-30366C>G (n.5-30366C>G) c.-43-19796C>G (n.-43-19796C>G) c.-99+30954C>G (n.-99+30954C>G) n.1350C>G n.1391C>G | ClinVar dbSNP gnomAD v4 |
17 | g.43094317G= | CA2260784818 | BRCA1 | n.1278C= c.1214C= (p.Ser405=) c.1088C= (p.Ser363=) c.1211C= (p.Ser404=) c.1136C= (p.Ser379=) c.784+427C= (n.784+427C=) c.646+427C= (n.646+427C=) c.326C= (p.Ser109=) c.1091C= (p.Ser364=) c.1073C= (p.Ser358=) c.664+427C= (n.664+427C=) c.706+427C= (n.706+427C=) c.*1222C= (n.*1222C=) c.670+1529C= (n.670+1529C=) c.565C= c.*997C= (n.*997C=) c.787+427C= (n.787+427C=) c.811C= c.409+427C= (n.409+427C=) c.412+427C= (n.412+427C=) c.*1150C= (n.*1150C=) c.5-30366C= (n.5-30366C=) c.-43-19796C= (n.-43-19796C=) c.-99+30954C= (n.-99+30954C=) n.1350C= n.1391C= | |
17 | g.43094317G>T | CA000796 | BRCA1 | n.1278C>A c.1214C>A (p.Ser405Ter) c.1088C>A (p.Ser363Ter) c.1211C>A (p.Ser404Ter) c.1136C>A (p.Ser379Ter) c.784+427C>A (n.784+427C>A) c.646+427C>A (n.646+427C>A) c.326C>A (p.Ser109Ter) c.1091C>A (p.Ser364Ter) c.1073C>A (p.Ser358Ter) c.664+427C>A (n.664+427C>A) c.706+427C>A (n.706+427C>A) c.*1222C>A (n.*1222C>A) c.670+1529C>A (n.670+1529C>A) c.565C>A c.*997C>A (n.*997C>A) c.787+427C>A (n.787+427C>A) c.811C>A c.409+427C>A (n.409+427C>A) c.412+427C>A (n.412+427C>A) c.*1150C>A (n.*1150C>A) c.5-30366C>A (n.5-30366C>A) c.-43-19796C>A (n.-43-19796C>A) c.-99+30954C>A (n.-99+30954C>A) n.1350C>A n.1391C>A | ClinVar dbSNP |
17 | g.43094319_43094324del | CA2638062640 | BRCA1 | n.1273_1278del c.1209_1214del (p.Glu404_Ser405del) c.1083_1088del (p.Glu362_Ser363del) c.1206_1211del (p.Glu403_Ser404del) c.1131_1136del (p.Glu378_Ser379del) c.784+422_784+427del (n.784+422_784+427del) c.646+422_646+427del (n.646+422_646+427del) c.321_326del (p.Glu108_Ser109del) c.1086_1091del (p.Glu363_Ser364del) c.1068_1073del (p.Glu357_Ser358del) c.664+422_664+427del (n.664+422_664+427del) c.706+422_706+427del (n.706+422_706+427del) c.*1217_*1222del (n.*1217_*1222del) c.670+1524_670+1529del (n.670+1524_670+1529del) c.560_565del c.*992_*997del (n.*992_*997del) c.787+422_787+427del (n.787+422_787+427del) c.806_811del c.409+422_409+427del (n.409+422_409+427del) c.412+422_412+427del (n.412+422_412+427del) c.*1145_*1150del (n.*1145_*1150del) c.5-30371_5-30366del (n.5-30371_5-30366del) c.-43-19801_-43-19796del (n.-43-19801_-43-19796del) c.-99+30949_-99+30954del (n.-99+30949_-99+30954del) n.1345_1350del n.1386_1391del | gnomAD v4 |
17 | g.43094318_43094357del | CA000776 | BRCA1 | n.1239_1278del c.1175_1214del (p.Leu392GlnfsTer5) c.1049_1088del (p.Leu350GlnfsTer5) c.1172_1211del (p.Leu391GlnfsTer5) c.1097_1136del (p.Leu366GlnfsTer5) c.784+388_784+427del (n.784+388_784+427del) c.646+388_646+427del (n.646+388_646+427del) c.287_326del (p.Leu96GlnfsTer5) c.1052_1091del (p.Leu351GlnfsTer5) c.1034_1073del (p.Leu345GlnfsTer5) c.664+388_664+427del (n.664+388_664+427del) c.706+388_706+427del (n.706+388_706+427del) c.*1183_*1222del (n.*1183_*1222del) c.670+1490_670+1529del (n.670+1490_670+1529del) c.526_565del c.*958_*997del (n.*958_*997del) c.787+388_787+427del (n.787+388_787+427del) c.772_811del c.409+388_409+427del (n.409+388_409+427del) c.412+388_412+427del (n.412+388_412+427del) c.*1111_*1150del (n.*1111_*1150del) c.5-30405_5-30366del (n.5-30405_5-30366del) c.-43-19835_-43-19796del (n.-43-19835_-43-19796del) c.-99+30915_-99+30954del (n.-99+30915_-99+30954del) n.1311_1350del n.1352_1391del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43094318A>C | CA10599623 | BRCA1 | n.1277T>G c.1213T>G (p.Ser405Ala) c.1087T>G (p.Ser363Ala) c.1210T>G (p.Ser404Ala) c.1135T>G (p.Ser379Ala) c.784+426T>G (n.784+426T>G) c.646+426T>G (n.646+426T>G) c.325T>G (p.Ser109Ala) c.1090T>G (p.Ser364Ala) c.1072T>G (p.Ser358Ala) c.664+426T>G (n.664+426T>G) c.706+426T>G (n.706+426T>G) c.*1221T>G (n.*1221T>G) c.670+1528T>G (n.670+1528T>G) c.564T>G c.*996T>G (n.*996T>G) c.787+426T>G (n.787+426T>G) c.810T>G c.409+426T>G (n.409+426T>G) c.412+426T>G (n.412+426T>G) c.*1149T>G (n.*1149T>G) c.5-30367T>G (n.5-30367T>G) c.-43-19797T>G (n.-43-19797T>G) c.-99+30953T>G (n.-99+30953T>G) n.1349T>G n.1390T>G | dbSNP |
17 | g.43094318A>G | CA10599624 | BRCA1 | n.1277T>C c.1213T>C (p.Ser405Pro) c.1087T>C (p.Ser363Pro) c.1210T>C (p.Ser404Pro) c.1135T>C (p.Ser379Pro) c.784+426T>C (n.784+426T>C) c.646+426T>C (n.646+426T>C) c.325T>C (p.Ser109Pro) c.1090T>C (p.Ser364Pro) c.1072T>C (p.Ser358Pro) c.664+426T>C (n.664+426T>C) c.706+426T>C (n.706+426T>C) c.*1221T>C (n.*1221T>C) c.670+1528T>C (n.670+1528T>C) c.564T>C c.*996T>C (n.*996T>C) c.787+426T>C (n.787+426T>C) c.810T>C c.409+426T>C (n.409+426T>C) c.412+426T>C (n.412+426T>C) c.*1149T>C (n.*1149T>C) c.5-30367T>C (n.5-30367T>C) c.-43-19797T>C (n.-43-19797T>C) c.-99+30953T>C (n.-99+30953T>C) n.1349T>C n.1390T>C | |
17 | g.43094318A>T | CA10599625 | BRCA1 | n.1277T>A c.1213T>A (p.Ser405Thr) c.1087T>A (p.Ser363Thr) c.1210T>A (p.Ser404Thr) c.1135T>A (p.Ser379Thr) c.784+426T>A (n.784+426T>A) c.646+426T>A (n.646+426T>A) c.325T>A (p.Ser109Thr) c.1090T>A (p.Ser364Thr) c.1072T>A (p.Ser358Thr) c.664+426T>A (n.664+426T>A) c.706+426T>A (n.706+426T>A) c.*1221T>A (n.*1221T>A) c.670+1528T>A (n.670+1528T>A) c.564T>A c.*996T>A (n.*996T>A) c.787+426T>A (n.787+426T>A) c.810T>A c.409+426T>A (n.409+426T>A) c.412+426T>A (n.412+426T>A) c.*1149T>A (n.*1149T>A) c.5-30367T>A (n.5-30367T>A) c.-43-19797T>A (n.-43-19797T>A) c.-99+30953T>A (n.-99+30953T>A) n.1349T>A n.1390T>A | dbSNP |
17 | g.43094319T>A | CA10599626 | BRCA1 | n.1276A>T c.1212A>T (p.Glu404Asp) c.1086A>T (p.Glu362Asp) c.1209A>T (p.Glu403Asp) c.1134A>T (p.Glu378Asp) c.784+425A>T (n.784+425A>T) c.646+425A>T (n.646+425A>T) c.324A>T (p.Glu108Asp) c.1089A>T (p.Glu363Asp) c.1071A>T (p.Glu357Asp) c.664+425A>T (n.664+425A>T) c.706+425A>T (n.706+425A>T) c.*1220A>T (n.*1220A>T) c.670+1527A>T (n.670+1527A>T) c.563A>T c.*995A>T (n.*995A>T) c.787+425A>T (n.787+425A>T) c.809A>T c.409+425A>T (n.409+425A>T) c.412+425A>T (n.412+425A>T) c.*1148A>T (n.*1148A>T) c.5-30368A>T (n.5-30368A>T) c.-43-19798A>T (n.-43-19798A>T) c.-99+30952A>T (n.-99+30952A>T) n.1348A>T n.1389A>T | dbSNP |
17 | g.43094319T>C | CA16607635 | BRCA1 | n.1276A>G c.1212A>G (p.Glu404=) c.1086A>G (p.Glu362=) c.1209A>G (p.Glu403=) c.1134A>G (p.Glu378=) c.784+425A>G (n.784+425A>G) c.646+425A>G (n.646+425A>G) c.324A>G (p.Glu108=) c.1089A>G (p.Glu363=) c.1071A>G (p.Glu357=) c.664+425A>G (n.664+425A>G) c.706+425A>G (n.706+425A>G) c.*1220A>G (n.*1220A>G) c.670+1527A>G (n.670+1527A>G) c.563A>G c.*995A>G (n.*995A>G) c.787+425A>G (n.787+425A>G) c.809A>G c.409+425A>G (n.409+425A>G) c.412+425A>G (n.412+425A>G) c.*1148A>G (n.*1148A>G) c.5-30368A>G (n.5-30368A>G) c.-43-19798A>G (n.-43-19798A>G) c.-99+30952A>G (n.-99+30952A>G) n.1348A>G n.1389A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43094319T>G | CA10599627 | BRCA1 | n.1276A>C c.1212A>C (p.Glu404Asp) c.1086A>C (p.Glu362Asp) c.1209A>C (p.Glu403Asp) c.1134A>C (p.Glu378Asp) c.784+425A>C (n.784+425A>C) c.646+425A>C (n.646+425A>C) c.324A>C (p.Glu108Asp) c.1089A>C (p.Glu363Asp) c.1071A>C (p.Glu357Asp) c.664+425A>C (n.664+425A>C) c.706+425A>C (n.706+425A>C) c.*1220A>C (n.*1220A>C) c.670+1527A>C (n.670+1527A>C) c.563A>C c.*995A>C (n.*995A>C) c.787+425A>C (n.787+425A>C) c.809A>C c.409+425A>C (n.409+425A>C) c.412+425A>C (n.412+425A>C) c.*1148A>C (n.*1148A>C) c.5-30368A>C (n.5-30368A>C) c.-43-19798A>C (n.-43-19798A>C) c.-99+30952A>C (n.-99+30952A>C) n.1348A>C n.1389A>C | ClinVar dbSNP |
17 | g.43094319T= | CA2260784819 | BRCA1 | n.1276A= c.1212A= (p.Glu404=) c.1086A= (p.Glu362=) c.1209A= (p.Glu403=) c.1134A= (p.Glu378=) c.784+425A= (n.784+425A=) c.646+425A= (n.646+425A=) c.324A= (p.Glu108=) c.1089A= (p.Glu363=) c.1071A= (p.Glu357=) c.664+425A= (n.664+425A=) c.706+425A= (n.706+425A=) c.*1220A= (n.*1220A=) c.670+1527A= (n.670+1527A=) c.563A= c.*995A= (n.*995A=) c.787+425A= (n.787+425A=) c.809A= c.409+425A= (n.409+425A=) c.412+425A= (n.412+425A=) c.*1148A= (n.*1148A=) c.5-30368A= (n.5-30368A=) c.-43-19798A= (n.-43-19798A=) c.-99+30952A= (n.-99+30952A=) n.1348A= n.1389A= | |
17 | g.43094319_43094320insAG | CA658824534 | BRCA1 | n.1275_1276insCT c.1211_1212insCT (p.Glu404AspfsTer7) c.1085_1086insCT (p.Glu362AspfsTer7) c.1208_1209insCT (p.Glu403AspfsTer7) c.1133_1134insCT (p.Glu378AspfsTer7) c.784+424_784+425insCT (n.784+424_784+425insCT) c.646+424_646+425insCT (n.646+424_646+425insCT) c.323_324insCT (p.Glu108AspfsTer7) c.1088_1089insCT (p.Glu363AspfsTer7) c.1070_1071insCT (p.Glu357AspfsTer7) c.664+424_664+425insCT (n.664+424_664+425insCT) c.706+424_706+425insCT (n.706+424_706+425insCT) c.*1219_*1220insCT (n.*1219_*1220insCT) c.670+1526_670+1527insCT (n.670+1526_670+1527insCT) c.562_563insCT c.*994_*995insCT (n.*994_*995insCT) c.787+424_787+425insCT (n.787+424_787+425insCT) c.808_809insCT c.409+424_409+425insCT (n.409+424_409+425insCT) c.412+424_412+425insCT (n.412+424_412+425insCT) c.*1147_*1148insCT (n.*1147_*1148insCT) c.5-30369_5-30368insCT (n.5-30369_5-30368insCT) c.-43-19799_-43-19798insCT (n.-43-19799_-43-19798insCT) c.-99+30951_-99+30952insCT (n.-99+30951_-99+30952insCT) n.1347_1348insCT n.1388_1389insCT | ClinVar dbSNP |
17 | g.43094320T>A | CA10599628 | BRCA1 | n.1275A>T c.1211A>T (p.Glu404Val) c.1085A>T (p.Glu362Val) c.1208A>T (p.Glu403Val) c.1133A>T (p.Glu378Val) c.784+424A>T (n.784+424A>T) c.646+424A>T (n.646+424A>T) c.323A>T (p.Glu108Val) c.1088A>T (p.Glu363Val) c.1070A>T (p.Glu357Val) c.664+424A>T (n.664+424A>T) c.706+424A>T (n.706+424A>T) c.*1219A>T (n.*1219A>T) c.670+1526A>T (n.670+1526A>T) c.562A>T c.*994A>T (n.*994A>T) c.787+424A>T (n.787+424A>T) c.808A>T c.409+424A>T (n.409+424A>T) c.412+424A>T (n.412+424A>T) c.*1147A>T (n.*1147A>T) c.5-30369A>T (n.5-30369A>T) c.-43-19799A>T (n.-43-19799A>T) c.-99+30951A>T (n.-99+30951A>T) n.1347A>T n.1388A>T | dbSNP |
17 | g.43094320T>C | CA10599629 | BRCA1 | n.1275A>G c.1211A>G (p.Glu404Gly) c.1085A>G (p.Glu362Gly) c.1208A>G (p.Glu403Gly) c.1133A>G (p.Glu378Gly) c.784+424A>G (n.784+424A>G) c.646+424A>G (n.646+424A>G) c.323A>G (p.Glu108Gly) c.1088A>G (p.Glu363Gly) c.1070A>G (p.Glu357Gly) c.664+424A>G (n.664+424A>G) c.706+424A>G (n.706+424A>G) c.*1219A>G (n.*1219A>G) c.670+1526A>G (n.670+1526A>G) c.562A>G c.*994A>G (n.*994A>G) c.787+424A>G (n.787+424A>G) c.808A>G c.409+424A>G (n.409+424A>G) c.412+424A>G (n.412+424A>G) c.*1147A>G (n.*1147A>G) c.5-30369A>G (n.5-30369A>G) c.-43-19799A>G (n.-43-19799A>G) c.-99+30951A>G (n.-99+30951A>G) n.1347A>G n.1388A>G | dbSNP |
17 | g.43094320T>G | CA10599630 | BRCA1 | n.1275A>C c.1211A>C (p.Glu404Ala) c.1085A>C (p.Glu362Ala) c.1208A>C (p.Glu403Ala) c.1133A>C (p.Glu378Ala) c.784+424A>C (n.784+424A>C) c.646+424A>C (n.646+424A>C) c.323A>C (p.Glu108Ala) c.1088A>C (p.Glu363Ala) c.1070A>C (p.Glu357Ala) c.664+424A>C (n.664+424A>C) c.706+424A>C (n.706+424A>C) c.*1219A>C (n.*1219A>C) c.670+1526A>C (n.670+1526A>C) c.562A>C c.*994A>C (n.*994A>C) c.787+424A>C (n.787+424A>C) c.808A>C c.409+424A>C (n.409+424A>C) c.412+424A>C (n.412+424A>C) c.*1147A>C (n.*1147A>C) c.5-30369A>C (n.5-30369A>C) c.-43-19799A>C (n.-43-19799A>C) c.-99+30951A>C (n.-99+30951A>C) n.1347A>C n.1388A>C | dbSNP |
17 | g.43094320T= | CA2260784821 | BRCA1 | n.1275A= c.1211A= (p.Glu404=) c.1085A= (p.Glu362=) c.1208A= (p.Glu403=) c.1133A= (p.Glu378=) c.784+424A= (n.784+424A=) c.646+424A= (n.646+424A=) c.323A= (p.Glu108=) c.1088A= (p.Glu363=) c.1070A= (p.Glu357=) c.664+424A= (n.664+424A=) c.706+424A= (n.706+424A=) c.*1219A= (n.*1219A=) c.670+1526A= (n.670+1526A=) c.562A= c.*994A= (n.*994A=) c.787+424A= (n.787+424A=) c.808A= c.409+424A= (n.409+424A=) c.412+424A= (n.412+424A=) c.*1147A= (n.*1147A=) c.5-30369A= (n.5-30369A=) c.-43-19799A= (n.-43-19799A=) c.-99+30951A= (n.-99+30951A=) n.1347A= n.1388A= | |
17 | g.43094320_43094322delinsTCA | CA2260784820 | BRCA1 | n.1273_1275delinsTGA c.1209_1211delinsTGA (p.Ser403=) c.1083_1085delinsTGA (p.Ser361=) c.1206_1208delinsTGA (p.Ser402=) c.1131_1133delinsTGA (p.Ser377=) c.784+422_784+424delinsTGA (n.784+422_784+424delinsTGA) c.646+422_646+424delinsTGA (n.646+422_646+424delinsTGA) c.321_323delinsTGA (p.Ser107=) c.1086_1088delinsTGA (p.Ser362=) c.1068_1070delinsTGA (p.Ser356=) c.664+422_664+424delinsTGA (n.664+422_664+424delinsTGA) c.706+422_706+424delinsTGA (n.706+422_706+424delinsTGA) c.*1217_*1219delinsTGA (n.*1217_*1219delinsTGA) c.670+1524_670+1526delinsTGA (n.670+1524_670+1526delinsTGA) c.560_562delinsTGA c.*992_*994delinsTGA (n.*992_*994delinsTGA) c.787+422_787+424delinsTGA (n.787+422_787+424delinsTGA) c.806_808delinsTGA c.409+422_409+424delinsTGA (n.409+422_409+424delinsTGA) c.412+422_412+424delinsTGA (n.412+422_412+424delinsTGA) c.*1145_*1147delinsTGA (n.*1145_*1147delinsTGA) c.5-30371_5-30369delinsTGA (n.5-30371_5-30369delinsTGA) c.-43-19801_-43-19799delinsTGA (n.-43-19801_-43-19799delinsTGA) c.-99+30949_-99+30951delinsTGA (n.-99+30949_-99+30951delinsTGA) n.1345_1347delinsTGA n.1386_1388delinsTGA | |
17 | g.43094320_43094321insAG | CA10589959 | BRCA1 | n.1274_1275insCT c.1210_1211insCT (p.Glu404AlafsTer7) c.1084_1085insCT (p.Glu362AlafsTer7) c.1207_1208insCT (p.Glu403AlafsTer7) c.1132_1133insCT (p.Glu378AlafsTer7) c.784+423_784+424insCT (n.784+423_784+424insCT) c.646+423_646+424insCT (n.646+423_646+424insCT) c.322_323insCT (p.Glu108AlafsTer7) c.1087_1088insCT (p.Glu363AlafsTer7) c.1069_1070insCT (p.Glu357AlafsTer7) c.664+423_664+424insCT (n.664+423_664+424insCT) c.706+423_706+424insCT (n.706+423_706+424insCT) c.*1218_*1219insCT (n.*1218_*1219insCT) c.670+1525_670+1526insCT (n.670+1525_670+1526insCT) c.561_562insCT c.*993_*994insCT (n.*993_*994insCT) c.787+423_787+424insCT (n.787+423_787+424insCT) c.807_808insCT c.409+423_409+424insCT (n.409+423_409+424insCT) c.412+423_412+424insCT (n.412+423_412+424insCT) c.*1146_*1147insCT (n.*1146_*1147insCT) c.5-30370_5-30369insCT (n.5-30370_5-30369insCT) c.-43-19800_-43-19799insCT (n.-43-19800_-43-19799insCT) c.-99+30950_-99+30951insCT (n.-99+30950_-99+30951insCT) n.1346_1347insCT n.1387_1388insCT | ClinVar dbSNP |
17 | g.43094321C>A | CA10599631 | BRCA1 | n.1274G>T c.1210G>T (p.Glu404Ter) c.1084G>T (p.Glu362Ter) c.1207G>T (p.Glu403Ter) c.1132G>T (p.Glu378Ter) c.784+423G>T (n.784+423G>T) c.646+423G>T (n.646+423G>T) c.322G>T (p.Glu108Ter) c.1087G>T (p.Glu363Ter) c.1069G>T (p.Glu357Ter) c.664+423G>T (n.664+423G>T) c.706+423G>T (n.706+423G>T) c.*1218G>T (n.*1218G>T) c.670+1525G>T (n.670+1525G>T) c.561G>T c.*993G>T (n.*993G>T) c.787+423G>T (n.787+423G>T) c.807G>T c.409+423G>T (n.409+423G>T) c.412+423G>T (n.412+423G>T) c.*1146G>T (n.*1146G>T) c.5-30370G>T (n.5-30370G>T) c.-43-19800G>T (n.-43-19800G>T) c.-99+30950G>T (n.-99+30950G>T) n.1346G>T n.1387G>T | dbSNP |
17 | g.43094321C= | CA2260784822 | BRCA1 | n.1274G= c.1210G= (p.Glu404=) c.1084G= (p.Glu362=) c.1207G= (p.Glu403=) c.1132G= (p.Glu378=) c.784+423G= (n.784+423G=) c.646+423G= (n.646+423G=) c.322G= (p.Glu108=) c.1087G= (p.Glu363=) c.1069G= (p.Glu357=) c.664+423G= (n.664+423G=) c.706+423G= (n.706+423G=) c.*1218G= (n.*1218G=) c.670+1525G= (n.670+1525G=) c.561G= c.*993G= (n.*993G=) c.787+423G= (n.787+423G=) c.807G= c.409+423G= (n.409+423G=) c.412+423G= (n.412+423G=) c.*1146G= (n.*1146G=) c.5-30370G= (n.5-30370G=) c.-43-19800G= (n.-43-19800G=) c.-99+30950G= (n.-99+30950G=) n.1346G= n.1387G= | |
17 | g.43094321C>G | CA057098 | BRCA1 | n.1274G>C c.1210G>C (p.Glu404Gln) c.1084G>C (p.Glu362Gln) c.1207G>C (p.Glu403Gln) c.1132G>C (p.Glu378Gln) c.784+423G>C (n.784+423G>C) c.646+423G>C (n.646+423G>C) c.322G>C (p.Glu108Gln) c.1087G>C (p.Glu363Gln) c.1069G>C (p.Glu357Gln) c.664+423G>C (n.664+423G>C) c.706+423G>C (n.706+423G>C) c.*1218G>C (n.*1218G>C) c.670+1525G>C (n.670+1525G>C) c.561G>C c.*993G>C (n.*993G>C) c.787+423G>C (n.787+423G>C) c.807G>C c.409+423G>C (n.409+423G>C) c.412+423G>C (n.412+423G>C) c.*1146G>C (n.*1146G>C) c.5-30370G>C (n.5-30370G>C) c.-43-19800G>C (n.-43-19800G>C) c.-99+30950G>C (n.-99+30950G>C) n.1346G>C n.1387G>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.43094321C>T | CA10599632 | BRCA1 | n.1274G>A c.1210G>A (p.Glu404Lys) c.1084G>A (p.Glu362Lys) c.1207G>A (p.Glu403Lys) c.1132G>A (p.Glu378Lys) c.784+423G>A (n.784+423G>A) c.646+423G>A (n.646+423G>A) c.322G>A (p.Glu108Lys) c.1087G>A (p.Glu363Lys) c.1069G>A (p.Glu357Lys) c.664+423G>A (n.664+423G>A) c.706+423G>A (n.706+423G>A) c.*1218G>A (n.*1218G>A) c.670+1525G>A (n.670+1525G>A) c.561G>A c.*993G>A (n.*993G>A) c.787+423G>A (n.787+423G>A) c.807G>A c.409+423G>A (n.409+423G>A) c.412+423G>A (n.412+423G>A) c.*1146G>A (n.*1146G>A) c.5-30370G>A (n.5-30370G>A) c.-43-19800G>A (n.-43-19800G>A) c.-99+30950G>A (n.-99+30950G>A) n.1346G>A n.1387G>A | dbSNP |
17 | g.43094321_43094322del | CA10589960 | BRCA1 | n.1273_1274del c.1209_1210del (p.Glu404IlefsTer7) c.1083_1084del (p.Glu362IlefsTer7) c.1206_1207del (p.Glu403IlefsTer7) c.1131_1132del (p.Glu378IlefsTer7) c.784+422_784+423del (n.784+422_784+423del) c.646+422_646+423del (n.646+422_646+423del) c.321_322del (p.Glu108IlefsTer7) c.1086_1087del (p.Glu363IlefsTer7) c.1068_1069del (p.Glu357IlefsTer7) c.664+422_664+423del (n.664+422_664+423del) c.706+422_706+423del (n.706+422_706+423del) c.*1217_*1218del (n.*1217_*1218del) c.670+1524_670+1525del (n.670+1524_670+1525del) c.560_561del c.*992_*993del (n.*992_*993del) c.787+422_787+423del (n.787+422_787+423del) c.806_807del c.409+422_409+423del (n.409+422_409+423del) c.412+422_412+423del (n.412+422_412+423del) c.*1145_*1146del (n.*1145_*1146del) c.5-30371_5-30370del (n.5-30371_5-30370del) c.-43-19801_-43-19800del (n.-43-19801_-43-19800del) c.-99+30949_-99+30950del (n.-99+30949_-99+30950del) n.1345_1346del n.1386_1387del | ClinVar dbSNP |
17 | g.43094321_43094322delinsCA | CA2260784823 | BRCA1 | n.1273_1274delinsTG c.1209_1210delinsTG (p.Ser403=) c.1083_1084delinsTG (p.Ser361=) c.1206_1207delinsTG (p.Ser402=) c.1131_1132delinsTG (p.Ser377=) c.784+422_784+423delinsTG (n.784+422_784+423delinsTG) c.646+422_646+423delinsTG (n.646+422_646+423delinsTG) c.321_322delinsTG (p.Ser107=) c.1086_1087delinsTG (p.Ser362=) c.1068_1069delinsTG (p.Ser356=) c.664+422_664+423delinsTG (n.664+422_664+423delinsTG) c.706+422_706+423delinsTG (n.706+422_706+423delinsTG) c.*1217_*1218delinsTG (n.*1217_*1218delinsTG) c.670+1524_670+1525delinsTG (n.670+1524_670+1525delinsTG) c.560_561delinsTG c.*992_*993delinsTG (n.*992_*993delinsTG) c.787+422_787+423delinsTG (n.787+422_787+423delinsTG) c.806_807delinsTG c.409+422_409+423delinsTG (n.409+422_409+423delinsTG) c.412+422_412+423delinsTG (n.412+422_412+423delinsTG) c.*1145_*1146delinsTG (n.*1145_*1146delinsTG) c.5-30371_5-30370delinsTG (n.5-30371_5-30370delinsTG) c.-43-19801_-43-19800delinsTG (n.-43-19801_-43-19800delinsTG) c.-99+30949_-99+30950delinsTG (n.-99+30949_-99+30950delinsTG) n.1345_1346delinsTG n.1386_1387delinsTG | |
17 | g.43094322del | CA913188896 | BRCA1 | n.1273del c.1209del (p.Glu404AsnfsTer6) c.1083del (p.Glu362AsnfsTer6) c.1206del (p.Glu403AsnfsTer6) c.1131del (p.Glu378AsnfsTer6) c.784+422del (n.784+422del) c.646+422del (n.646+422del) c.321del (p.Glu108AsnfsTer6) c.1086del (p.Glu363AsnfsTer6) c.1068del (p.Glu357AsnfsTer6) c.664+422del (n.664+422del) c.706+422del (n.706+422del) c.*1217del (n.*1217del) c.670+1524del (n.670+1524del) c.560del c.*992del (n.*992del) c.787+422del (n.787+422del) c.806del c.409+422del (n.409+422del) c.412+422del (n.412+422del) c.*1145del (n.*1145del) c.5-30371del (n.5-30371del) c.-43-19801del (n.-43-19801del) c.-99+30949del (n.-99+30949del) n.1345del n.1386del | ClinVar dbSNP |
17 | g.43094322A= | CA2260784824 | BRCA1 | n.1273T= c.1209T= (p.Ser403=) c.1083T= (p.Ser361=) c.1206T= (p.Ser402=) c.1131T= (p.Ser377=) c.784+422T= (n.784+422T=) c.646+422T= (n.646+422T=) c.321T= (p.Ser107=) c.1086T= (p.Ser362=) c.1068T= (p.Ser356=) c.664+422T= (n.664+422T=) c.706+422T= (n.706+422T=) c.*1217T= (n.*1217T=) c.670+1524T= (n.670+1524T=) c.560T= c.*992T= (n.*992T=) c.787+422T= (n.787+422T=) c.806T= c.409+422T= (n.409+422T=) c.412+422T= (n.412+422T=) c.*1145T= (n.*1145T=) c.5-30371T= (n.5-30371T=) c.-43-19801T= (n.-43-19801T=) c.-99+30949T= (n.-99+30949T=) n.1345T= n.1386T= | |
17 | g.43094322A>C | CA500233565 | BRCA1 | n.1273T>G c.1209T>G (p.Ser403=) c.1083T>G (p.Ser361=) c.1206T>G (p.Ser402=) c.1131T>G (p.Ser377=) c.784+422T>G (n.784+422T>G) c.646+422T>G (n.646+422T>G) c.321T>G (p.Ser107=) c.1086T>G (p.Ser362=) c.1068T>G (p.Ser356=) c.664+422T>G (n.664+422T>G) c.706+422T>G (n.706+422T>G) c.*1217T>G (n.*1217T>G) c.670+1524T>G (n.670+1524T>G) c.560T>G c.*992T>G (n.*992T>G) c.787+422T>G (n.787+422T>G) c.806T>G c.409+422T>G (n.409+422T>G) c.412+422T>G (n.412+422T>G) c.*1145T>G (n.*1145T>G) c.5-30371T>G (n.5-30371T>G) c.-43-19801T>G (n.-43-19801T>G) c.-99+30949T>G (n.-99+30949T>G) n.1345T>G n.1386T>G | |
17 | g.43094322A>G | CA057092 | BRCA1 | n.1273T>C c.1209T>C (p.Ser403=) c.1083T>C (p.Ser361=) c.1206T>C (p.Ser402=) c.1131T>C (p.Ser377=) c.784+422T>C (n.784+422T>C) c.646+422T>C (n.646+422T>C) c.321T>C (p.Ser107=) c.1086T>C (p.Ser362=) c.1068T>C (p.Ser356=) c.664+422T>C (n.664+422T>C) c.706+422T>C (n.706+422T>C) c.*1217T>C (n.*1217T>C) c.670+1524T>C (n.670+1524T>C) c.560T>C c.*992T>C (n.*992T>C) c.787+422T>C (n.787+422T>C) c.806T>C c.409+422T>C (n.409+422T>C) c.412+422T>C (n.412+422T>C) c.*1145T>C (n.*1145T>C) c.5-30371T>C (n.5-30371T>C) c.-43-19801T>C (n.-43-19801T>C) c.-99+30949T>C (n.-99+30949T>C) n.1345T>C n.1386T>C | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.43094322A>T | CA500233566 | BRCA1 | n.1273T>A c.1209T>A (p.Ser403=) c.1083T>A (p.Ser361=) c.1206T>A (p.Ser402=) c.1131T>A (p.Ser377=) c.784+422T>A (n.784+422T>A) c.646+422T>A (n.646+422T>A) c.321T>A (p.Ser107=) c.1086T>A (p.Ser362=) c.1068T>A (p.Ser356=) c.664+422T>A (n.664+422T>A) c.706+422T>A (n.706+422T>A) c.*1217T>A (n.*1217T>A) c.670+1524T>A (n.670+1524T>A) c.560T>A c.*992T>A (n.*992T>A) c.787+422T>A (n.787+422T>A) c.806T>A c.409+422T>A (n.409+422T>A) c.412+422T>A (n.412+422T>A) c.*1145T>A (n.*1145T>A) c.5-30371T>A (n.5-30371T>A) c.-43-19801T>A (n.-43-19801T>A) c.-99+30949T>A (n.-99+30949T>A) n.1345T>A n.1386T>A | dbSNP |