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.43094312C>A | CA10599611 | BRCA1 | n.1283G>T c.1219G>T (p.Ala407Ser) c.1093G>T (p.Ala365Ser) c.1216G>T (p.Ala406Ser) c.1141G>T (p.Ala381Ser) c.784+432G>T (n.784+432G>T) c.646+432G>T (n.646+432G>T) c.331G>T (p.Ala111Ser) c.1096G>T (p.Ala366Ser) c.1078G>T (p.Ala360Ser) c.664+432G>T (n.664+432G>T) c.706+432G>T (n.706+432G>T) c.*1227G>T (n.*1227G>T) c.670+1534G>T (n.670+1534G>T) c.570G>T c.*1002G>T (n.*1002G>T) c.787+432G>T (n.787+432G>T) c.816G>T c.409+432G>T (n.409+432G>T) c.412+432G>T (n.412+432G>T) c.*1155G>T (n.*1155G>T) c.5-30361G>T (n.5-30361G>T) c.-43-19791G>T (n.-43-19791G>T) c.-99+30959G>T (n.-99+30959G>T) n.1355G>T n.1396G>T | dbSNP |
17 | g.43094312C= | CA2260784809 | BRCA1 | n.1283G= c.1219G= (p.Ala407=) c.1093G= (p.Ala365=) c.1216G= (p.Ala406=) c.1141G= (p.Ala381=) c.784+432G= (n.784+432G=) c.646+432G= (n.646+432G=) c.331G= (p.Ala111=) c.1096G= (p.Ala366=) c.1078G= (p.Ala360=) c.664+432G= (n.664+432G=) c.706+432G= (n.706+432G=) c.*1227G= (n.*1227G=) c.670+1534G= (n.670+1534G=) c.570G= c.*1002G= (n.*1002G=) c.787+432G= (n.787+432G=) c.816G= c.409+432G= (n.409+432G=) c.412+432G= (n.412+432G=) c.*1155G= (n.*1155G=) c.5-30361G= (n.5-30361G=) c.-43-19791G= (n.-43-19791G=) c.-99+30959G= (n.-99+30959G=) n.1355G= n.1396G= | |
17 | g.43094312C>G | CA10599612 | BRCA1 | n.1283G>C c.1219G>C (p.Ala407Pro) c.1093G>C (p.Ala365Pro) c.1216G>C (p.Ala406Pro) c.1141G>C (p.Ala381Pro) c.784+432G>C (n.784+432G>C) c.646+432G>C (n.646+432G>C) c.331G>C (p.Ala111Pro) c.1096G>C (p.Ala366Pro) c.1078G>C (p.Ala360Pro) c.664+432G>C (n.664+432G>C) c.706+432G>C (n.706+432G>C) c.*1227G>C (n.*1227G>C) c.670+1534G>C (n.670+1534G>C) c.570G>C c.*1002G>C (n.*1002G>C) c.787+432G>C (n.787+432G>C) c.816G>C c.409+432G>C (n.409+432G>C) c.412+432G>C (n.412+432G>C) c.*1155G>C (n.*1155G>C) c.5-30361G>C (n.5-30361G>C) c.-43-19791G>C (n.-43-19791G>C) c.-99+30959G>C (n.-99+30959G>C) n.1355G>C n.1396G>C | dbSNP |
17 | g.43094312C>T | CA10599613 | BRCA1 | n.1283G>A c.1219G>A (p.Ala407Thr) c.1093G>A (p.Ala365Thr) c.1216G>A (p.Ala406Thr) c.1141G>A (p.Ala381Thr) c.784+432G>A (n.784+432G>A) c.646+432G>A (n.646+432G>A) c.331G>A (p.Ala111Thr) c.1096G>A (p.Ala366Thr) c.1078G>A (p.Ala360Thr) c.664+432G>A (n.664+432G>A) c.706+432G>A (n.706+432G>A) c.*1227G>A (n.*1227G>A) c.670+1534G>A (n.670+1534G>A) c.570G>A c.*1002G>A (n.*1002G>A) c.787+432G>A (n.787+432G>A) c.816G>A c.409+432G>A (n.409+432G>A) c.412+432G>A (n.412+432G>A) c.*1155G>A (n.*1155G>A) c.5-30361G>A (n.5-30361G>A) c.-43-19791G>A (n.-43-19791G>A) c.-99+30959G>A (n.-99+30959G>A) n.1355G>A n.1396G>A | ClinVar dbSNP |
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.43094312_43094313insT | CA658824532 | BRCA1 | n.1282_1283insA c.1218_1219insA (p.Ala407SerfsTer5) c.1092_1093insA (p.Ala365SerfsTer5) c.1215_1216insA (p.Ala406SerfsTer5) c.1140_1141insA (p.Ala381SerfsTer5) c.784+431_784+432insA (n.784+431_784+432insA) c.646+431_646+432insA (n.646+431_646+432insA) c.330_331insA (p.Ala111SerfsTer5) c.1095_1096insA (p.Ala366SerfsTer5) c.1077_1078insA (p.Ala360SerfsTer5) c.664+431_664+432insA (n.664+431_664+432insA) c.706+431_706+432insA (n.706+431_706+432insA) c.*1226_*1227insA (n.*1226_*1227insA) c.670+1533_670+1534insA (n.670+1533_670+1534insA) c.569_570insA c.*1001_*1002insA (n.*1001_*1002insA) c.787+431_787+432insA (n.787+431_787+432insA) c.815_816insA c.409+431_409+432insA (n.409+431_409+432insA) c.412+431_412+432insA (n.412+431_412+432insA) c.*1154_*1155insA (n.*1154_*1155insA) c.5-30362_5-30361insA (n.5-30362_5-30361insA) c.-43-19792_-43-19791insA (n.-43-19792_-43-19791insA) c.-99+30958_-99+30959insA (n.-99+30958_-99+30959insA) n.1354_1355insA n.1395_1396insA | ClinVar dbSNP |
17 | g.43094313A= | CA2260784812 | BRCA1 | n.1282T= c.1218T= (p.Asn406=) c.1092T= (p.Asn364=) c.1215T= (p.Asn405=) c.1140T= (p.Asn380=) c.784+431T= (n.784+431T=) c.646+431T= (n.646+431T=) c.330T= (p.Asn110=) c.1095T= (p.Asn365=) c.1077T= (p.Asn359=) c.664+431T= (n.664+431T=) c.706+431T= (n.706+431T=) c.*1226T= (n.*1226T=) c.670+1533T= (n.670+1533T=) c.569T= c.*1001T= (n.*1001T=) c.787+431T= (n.787+431T=) c.815T= c.409+431T= (n.409+431T=) c.412+431T= (n.412+431T=) c.*1154T= (n.*1154T=) c.5-30362T= (n.5-30362T=) c.-43-19792T= (n.-43-19792T=) c.-99+30958T= (n.-99+30958T=) n.1354T= n.1395T= | |
17 | g.43094313A>C | CA10599614 | BRCA1 | n.1282T>G c.1218T>G (p.Asn406Lys) c.1092T>G (p.Asn364Lys) c.1215T>G (p.Asn405Lys) c.1140T>G (p.Asn380Lys) c.784+431T>G (n.784+431T>G) c.646+431T>G (n.646+431T>G) c.330T>G (p.Asn110Lys) c.1095T>G (p.Asn365Lys) c.1077T>G (p.Asn359Lys) c.664+431T>G (n.664+431T>G) c.706+431T>G (n.706+431T>G) c.*1226T>G (n.*1226T>G) c.670+1533T>G (n.670+1533T>G) c.569T>G c.*1001T>G (n.*1001T>G) c.787+431T>G (n.787+431T>G) c.815T>G c.409+431T>G (n.409+431T>G) c.412+431T>G (n.412+431T>G) c.*1154T>G (n.*1154T>G) c.5-30362T>G (n.5-30362T>G) c.-43-19792T>G (n.-43-19792T>G) c.-99+30958T>G (n.-99+30958T>G) n.1354T>G n.1395T>G | dbSNP |
17 | g.43094313A>G | CA500233544 | BRCA1 | n.1282T>C c.1218T>C (p.Asn406=) c.1092T>C (p.Asn364=) c.1215T>C (p.Asn405=) c.1140T>C (p.Asn380=) c.784+431T>C (n.784+431T>C) c.646+431T>C (n.646+431T>C) c.330T>C (p.Asn110=) c.1095T>C (p.Asn365=) c.1077T>C (p.Asn359=) c.664+431T>C (n.664+431T>C) c.706+431T>C (n.706+431T>C) c.*1226T>C (n.*1226T>C) c.670+1533T>C (n.670+1533T>C) c.569T>C c.*1001T>C (n.*1001T>C) c.787+431T>C (n.787+431T>C) c.815T>C c.409+431T>C (n.409+431T>C) c.412+431T>C (n.412+431T>C) c.*1154T>C (n.*1154T>C) c.5-30362T>C (n.5-30362T>C) c.-43-19792T>C (n.-43-19792T>C) c.-99+30958T>C (n.-99+30958T>C) n.1354T>C n.1395T>C | dbSNP gnomAD v4 |
17 | g.43094313A>T | CA10599615 | BRCA1 | n.1282T>A c.1218T>A (p.Asn406Lys) c.1092T>A (p.Asn364Lys) c.1215T>A (p.Asn405Lys) c.1140T>A (p.Asn380Lys) c.784+431T>A (n.784+431T>A) c.646+431T>A (n.646+431T>A) c.330T>A (p.Asn110Lys) c.1095T>A (p.Asn365Lys) c.1077T>A (p.Asn359Lys) c.664+431T>A (n.664+431T>A) c.706+431T>A (n.706+431T>A) c.*1226T>A (n.*1226T>A) c.670+1533T>A (n.670+1533T>A) c.569T>A c.*1001T>A (n.*1001T>A) c.787+431T>A (n.787+431T>A) c.815T>A c.409+431T>A (n.409+431T>A) c.412+431T>A (n.412+431T>A) c.*1154T>A (n.*1154T>A) c.5-30362T>A (n.5-30362T>A) c.-43-19792T>A (n.-43-19792T>A) c.-99+30958T>A (n.-99+30958T>A) n.1354T>A n.1395T>A | |
17 | g.43094313dup | CA2499224554 | BRCA1 | n.1282dup c.1218dup (p.Ala407CysfsTer5) c.1092dup (p.Ala365CysfsTer5) c.1215dup (p.Ala406CysfsTer5) c.1140dup (p.Ala381CysfsTer5) c.784+431dup (n.784+431dup) c.646+431dup (n.646+431dup) c.330dup (p.Ala111CysfsTer5) c.1095dup (p.Ala366CysfsTer5) c.1077dup (p.Ala360CysfsTer5) c.664+431dup (n.664+431dup) c.706+431dup (n.706+431dup) c.*1226dup (n.*1226dup) c.670+1533dup (n.670+1533dup) c.569dup c.*1001dup (n.*1001dup) c.787+431dup (n.787+431dup) c.815dup c.409+431dup (n.409+431dup) c.412+431dup (n.412+431dup) c.*1154dup (n.*1154dup) c.5-30362dup (n.5-30362dup) c.-43-19792dup (n.-43-19792dup) c.-99+30958dup (n.-99+30958dup) n.1354dup n.1395dup | |
17 | g.43094313_43094314delinsAT | CA2260784811 | BRCA1 | n.1281_1282delinsAT c.1217_1218delinsAT (p.Asn406=) c.1091_1092delinsAT (p.Asn364=) c.1214_1215delinsAT (p.Asn405=) c.1139_1140delinsAT (p.Asn380=) c.784+430_784+431delinsAT (n.784+430_784+431delinsAT) c.646+430_646+431delinsAT (n.646+430_646+431delinsAT) c.329_330delinsAT (p.Asn110=) c.1094_1095delinsAT (p.Asn365=) c.1076_1077delinsAT (p.Asn359=) c.664+430_664+431delinsAT (n.664+430_664+431delinsAT) c.706+430_706+431delinsAT (n.706+430_706+431delinsAT) c.*1225_*1226delinsAT (n.*1225_*1226delinsAT) c.670+1532_670+1533delinsAT (n.670+1532_670+1533delinsAT) c.568_569delinsAT c.*1000_*1001delinsAT (n.*1000_*1001delinsAT) c.787+430_787+431delinsAT (n.787+430_787+431delinsAT) c.814_815delinsAT c.409+430_409+431delinsAT (n.409+430_409+431delinsAT) c.412+430_412+431delinsAT (n.412+430_412+431delinsAT) c.*1153_*1154delinsAT (n.*1153_*1154delinsAT) c.5-30363_5-30362delinsAT (n.5-30363_5-30362delinsAT) c.-43-19793_-43-19792delinsAT (n.-43-19793_-43-19792delinsAT) c.-99+30957_-99+30958delinsAT (n.-99+30957_-99+30958delinsAT) n.1353_1354delinsAT n.1394_1395delinsAT | |
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.43094314T>A | CA10599616 | BRCA1 | n.1281A>T c.1217A>T (p.Asn406Ile) c.1091A>T (p.Asn364Ile) c.1214A>T (p.Asn405Ile) c.1139A>T (p.Asn380Ile) c.784+430A>T (n.784+430A>T) c.646+430A>T (n.646+430A>T) c.329A>T (p.Asn110Ile) c.1094A>T (p.Asn365Ile) c.1076A>T (p.Asn359Ile) c.664+430A>T (n.664+430A>T) c.706+430A>T (n.706+430A>T) c.*1225A>T (n.*1225A>T) c.670+1532A>T (n.670+1532A>T) c.568A>T c.*1000A>T (n.*1000A>T) c.787+430A>T (n.787+430A>T) c.814A>T c.409+430A>T (n.409+430A>T) c.412+430A>T (n.412+430A>T) c.*1153A>T (n.*1153A>T) c.5-30363A>T (n.5-30363A>T) c.-43-19793A>T (n.-43-19793A>T) c.-99+30957A>T (n.-99+30957A>T) n.1353A>T n.1394A>T | dbSNP |
17 | g.43094314T>C | CA10599617 | BRCA1 | n.1281A>G c.1217A>G (p.Asn406Ser) c.1091A>G (p.Asn364Ser) c.1214A>G (p.Asn405Ser) c.1139A>G (p.Asn380Ser) c.784+430A>G (n.784+430A>G) c.646+430A>G (n.646+430A>G) c.329A>G (p.Asn110Ser) c.1094A>G (p.Asn365Ser) c.1076A>G (p.Asn359Ser) c.664+430A>G (n.664+430A>G) c.706+430A>G (n.706+430A>G) c.*1225A>G (n.*1225A>G) c.670+1532A>G (n.670+1532A>G) c.568A>G c.*1000A>G (n.*1000A>G) c.787+430A>G (n.787+430A>G) c.814A>G c.409+430A>G (n.409+430A>G) c.412+430A>G (n.412+430A>G) c.*1153A>G (n.*1153A>G) c.5-30363A>G (n.5-30363A>G) c.-43-19793A>G (n.-43-19793A>G) c.-99+30957A>G (n.-99+30957A>G) n.1353A>G n.1394A>G | dbSNP |
17 | g.43094314T>G | CA10599618 | BRCA1 | n.1281A>C c.1217A>C (p.Asn406Thr) c.1091A>C (p.Asn364Thr) c.1214A>C (p.Asn405Thr) c.1139A>C (p.Asn380Thr) c.784+430A>C (n.784+430A>C) c.646+430A>C (n.646+430A>C) c.329A>C (p.Asn110Thr) c.1094A>C (p.Asn365Thr) c.1076A>C (p.Asn359Thr) c.664+430A>C (n.664+430A>C) c.706+430A>C (n.706+430A>C) c.*1225A>C (n.*1225A>C) c.670+1532A>C (n.670+1532A>C) c.568A>C c.*1000A>C (n.*1000A>C) c.787+430A>C (n.787+430A>C) c.814A>C c.409+430A>C (n.409+430A>C) c.412+430A>C (n.412+430A>C) c.*1153A>C (n.*1153A>C) c.5-30363A>C (n.5-30363A>C) c.-43-19793A>C (n.-43-19793A>C) c.-99+30957A>C (n.-99+30957A>C) n.1353A>C n.1394A>C | |
17 | g.43094316dup | CA645373210 | BRCA1 | n.1281dup c.1217dup (p.Asn406LysfsTer6) c.1091dup (p.Asn364LysfsTer6) c.1214dup (p.Asn405LysfsTer6) c.1139dup (p.Asn380LysfsTer6) c.784+430dup (n.784+430dup) c.646+430dup (n.646+430dup) c.329dup (p.Asn110LysfsTer6) c.1094dup (p.Asn365LysfsTer6) c.1076dup (p.Asn359LysfsTer6) c.664+430dup (n.664+430dup) c.706+430dup (n.706+430dup) c.*1225dup (n.*1225dup) c.670+1532dup (n.670+1532dup) c.568dup c.*1000dup (n.*1000dup) c.787+430dup (n.787+430dup) c.814dup c.409+430dup (n.409+430dup) c.412+430dup (n.412+430dup) c.*1153dup (n.*1153dup) c.5-30363dup (n.5-30363dup) c.-43-19793dup (n.-43-19793dup) c.-99+30957dup (n.-99+30957dup) n.1353dup n.1394dup | ClinVar dbSNP |
17 | g.43094316del | CA000800 | BRCA1 | n.1281del c.1217del (p.Asn406MetfsTer4) c.1091del (p.Asn364MetfsTer4) c.1214del (p.Asn405MetfsTer4) c.1139del (p.Asn380MetfsTer4) c.784+430del (n.784+430del) c.646+430del (n.646+430del) c.329del (p.Asn110MetfsTer4) c.1094del (p.Asn365MetfsTer4) c.1076del (p.Asn359MetfsTer4) c.664+430del (n.664+430del) c.706+430del (n.706+430del) c.*1225del (n.*1225del) c.670+1532del (n.670+1532del) c.568del c.*1000del (n.*1000del) c.787+430del (n.787+430del) c.814del c.409+430del (n.409+430del) c.412+430del (n.412+430del) c.*1153del (n.*1153del) c.5-30363del (n.5-30363del) c.-43-19793del (n.-43-19793del) c.-99+30957del (n.-99+30957del) n.1353del n.1394del | ClinVar dbSNP |
17 | g.43094315_43094316del | CA2580093909 | BRCA1 | n.1280_1281del c.1216_1217del (p.Asn406CysfsTer5) c.1090_1091del (p.Asn364CysfsTer5) c.1213_1214del (p.Asn405CysfsTer5) c.1138_1139del (p.Asn380CysfsTer5) c.784+429_784+430del (n.784+429_784+430del) c.646+429_646+430del (n.646+429_646+430del) c.328_329del (p.Asn110CysfsTer5) c.1093_1094del (p.Asn365CysfsTer5) c.1075_1076del (p.Asn359CysfsTer5) c.664+429_664+430del (n.664+429_664+430del) c.706+429_706+430del (n.706+429_706+430del) c.*1224_*1225del (n.*1224_*1225del) c.670+1531_670+1532del (n.670+1531_670+1532del) c.567_568del c.*999_*1000del (n.*999_*1000del) c.787+429_787+430del (n.787+429_787+430del) c.813_814del c.409+429_409+430del (n.409+429_409+430del) c.412+429_412+430del (n.412+429_412+430del) c.*1152_*1153del (n.*1152_*1153del) c.5-30364_5-30363del (n.5-30364_5-30363del) c.-43-19794_-43-19793del (n.-43-19794_-43-19793del) c.-99+30956_-99+30957del (n.-99+30956_-99+30957del) n.1352_1353del n.1393_1394del | ClinVar |
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.43094315T>A | CA10599619 | BRCA1 | n.1280A>T c.1216A>T (p.Asn406Tyr) c.1090A>T (p.Asn364Tyr) c.1213A>T (p.Asn405Tyr) c.1138A>T (p.Asn380Tyr) c.784+429A>T (n.784+429A>T) c.646+429A>T (n.646+429A>T) c.328A>T (p.Asn110Tyr) c.1093A>T (p.Asn365Tyr) c.1075A>T (p.Asn359Tyr) c.664+429A>T (n.664+429A>T) c.706+429A>T (n.706+429A>T) c.*1224A>T (n.*1224A>T) c.670+1531A>T (n.670+1531A>T) c.567A>T c.*999A>T (n.*999A>T) c.787+429A>T (n.787+429A>T) c.813A>T c.409+429A>T (n.409+429A>T) c.412+429A>T (n.412+429A>T) c.*1152A>T (n.*1152A>T) c.5-30364A>T (n.5-30364A>T) c.-43-19794A>T (n.-43-19794A>T) c.-99+30956A>T (n.-99+30956A>T) n.1352A>T n.1393A>T | dbSNP |
17 | g.43094315T>C | CA10599620 | BRCA1 | n.1280A>G c.1216A>G (p.Asn406Asp) c.1090A>G (p.Asn364Asp) c.1213A>G (p.Asn405Asp) c.1138A>G (p.Asn380Asp) c.784+429A>G (n.784+429A>G) c.646+429A>G (n.646+429A>G) c.328A>G (p.Asn110Asp) c.1093A>G (p.Asn365Asp) c.1075A>G (p.Asn359Asp) c.664+429A>G (n.664+429A>G) c.706+429A>G (n.706+429A>G) c.*1224A>G (n.*1224A>G) c.670+1531A>G (n.670+1531A>G) c.567A>G c.*999A>G (n.*999A>G) c.787+429A>G (n.787+429A>G) c.813A>G c.409+429A>G (n.409+429A>G) c.412+429A>G (n.412+429A>G) c.*1152A>G (n.*1152A>G) c.5-30364A>G (n.5-30364A>G) c.-43-19794A>G (n.-43-19794A>G) c.-99+30956A>G (n.-99+30956A>G) n.1352A>G n.1393A>G | dbSNP |
17 | g.43094315T>G | CA10599621 | BRCA1 | n.1280A>C c.1216A>C (p.Asn406His) c.1090A>C (p.Asn364His) c.1213A>C (p.Asn405His) c.1138A>C (p.Asn380His) c.784+429A>C (n.784+429A>C) c.646+429A>C (n.646+429A>C) c.328A>C (p.Asn110His) c.1093A>C (p.Asn365His) c.1075A>C (p.Asn359His) c.664+429A>C (n.664+429A>C) c.706+429A>C (n.706+429A>C) c.*1224A>C (n.*1224A>C) c.670+1531A>C (n.670+1531A>C) c.567A>C c.*999A>C (n.*999A>C) c.787+429A>C (n.787+429A>C) c.813A>C c.409+429A>C (n.409+429A>C) c.412+429A>C (n.412+429A>C) c.*1152A>C (n.*1152A>C) c.5-30364A>C (n.5-30364A>C) c.-43-19794A>C (n.-43-19794A>C) c.-99+30956A>C (n.-99+30956A>C) n.1352A>C n.1393A>C | |
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.43094316T>A | CA500233557 | BRCA1 | n.1279A>T c.1215A>T (p.Ser405=) c.1089A>T (p.Ser363=) c.1212A>T (p.Ser404=) c.1137A>T (p.Ser379=) c.784+428A>T (n.784+428A>T) c.646+428A>T (n.646+428A>T) c.327A>T (p.Ser109=) c.1092A>T (p.Ser364=) c.1074A>T (p.Ser358=) c.664+428A>T (n.664+428A>T) c.706+428A>T (n.706+428A>T) c.*1223A>T (n.*1223A>T) c.670+1530A>T (n.670+1530A>T) c.566A>T c.*998A>T (n.*998A>T) c.787+428A>T (n.787+428A>T) c.812A>T c.409+428A>T (n.409+428A>T) c.412+428A>T (n.412+428A>T) c.*1151A>T (n.*1151A>T) c.5-30365A>T (n.5-30365A>T) c.-43-19795A>T (n.-43-19795A>T) c.-99+30955A>T (n.-99+30955A>T) n.1351A>T n.1392A>T | dbSNP |
17 | g.43094316T>C | CA000799 | BRCA1 | n.1279A>G c.1215A>G (p.Ser405=) c.1089A>G (p.Ser363=) c.1212A>G (p.Ser404=) c.1137A>G (p.Ser379=) c.784+428A>G (n.784+428A>G) c.646+428A>G (n.646+428A>G) c.327A>G (p.Ser109=) c.1092A>G (p.Ser364=) c.1074A>G (p.Ser358=) c.664+428A>G (n.664+428A>G) c.706+428A>G (n.706+428A>G) c.*1223A>G (n.*1223A>G) c.670+1530A>G (n.670+1530A>G) c.566A>G c.*998A>G (n.*998A>G) c.787+428A>G (n.787+428A>G) c.812A>G c.409+428A>G (n.409+428A>G) c.412+428A>G (n.412+428A>G) c.*1151A>G (n.*1151A>G) c.5-30365A>G (n.5-30365A>G) c.-43-19795A>G (n.-43-19795A>G) c.-99+30955A>G (n.-99+30955A>G) n.1351A>G n.1392A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43094316T>G | CA500233555 | BRCA1 | n.1279A>C c.1215A>C (p.Ser405=) c.1089A>C (p.Ser363=) c.1212A>C (p.Ser404=) c.1137A>C (p.Ser379=) c.784+428A>C (n.784+428A>C) c.646+428A>C (n.646+428A>C) c.327A>C (p.Ser109=) c.1092A>C (p.Ser364=) c.1074A>C (p.Ser358=) c.664+428A>C (n.664+428A>C) c.706+428A>C (n.706+428A>C) c.*1223A>C (n.*1223A>C) c.670+1530A>C (n.670+1530A>C) c.566A>C c.*998A>C (n.*998A>C) c.787+428A>C (n.787+428A>C) c.812A>C c.409+428A>C (n.409+428A>C) c.412+428A>C (n.412+428A>C) c.*1151A>C (n.*1151A>C) c.5-30365A>C (n.5-30365A>C) c.-43-19795A>C (n.-43-19795A>C) c.-99+30955A>C (n.-99+30955A>C) n.1351A>C n.1392A>C | |
17 | g.43094316T= | CA2260784816 | BRCA1 | n.1279A= c.1215A= (p.Ser405=) c.1089A= (p.Ser363=) c.1212A= (p.Ser404=) c.1137A= (p.Ser379=) c.784+428A= (n.784+428A=) c.646+428A= (n.646+428A=) c.327A= (p.Ser109=) c.1092A= (p.Ser364=) c.1074A= (p.Ser358=) c.664+428A= (n.664+428A=) c.706+428A= (n.706+428A=) c.*1223A= (n.*1223A=) c.670+1530A= (n.670+1530A=) c.566A= c.*998A= (n.*998A=) c.787+428A= (n.787+428A=) c.812A= c.409+428A= (n.409+428A=) c.412+428A= (n.412+428A=) c.*1151A= (n.*1151A=) c.5-30365A= (n.5-30365A=) c.-43-19795A= (n.-43-19795A=) c.-99+30955A= (n.-99+30955A=) n.1351A= n.1392A= | |
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 |