Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43084852_43094147del | CA645369660 | BRCA1 | c.1385_4186-2276del c.1259_4060-2276del c.1382_4183-2279del c.1307_4108-2276del c.784+598_874-2276del c.646+598_736-2276del c.497_3298-2276del c.1262_4063-2276del c.1244_4045-2276del c.664+598_754-2279del c.706+598_796-2276del c.670+1700_760-2276del c.*1168_*3969-2276del c.787+598_877-2276del c.409+598_499-2276del c.412+598_502-2276del c.5-30195_5-20900del (n.5-30195_5-20900del) c.-43-19625_-43-10330del (n.-43-19625_-43-10330del) c.-99+31125_-98-34661del (n.-99+31125_-98-34661del) n.1521_4322-2276del n.1562_4363-2276del | ClinVar |
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.43093311_43093377dup | CA10589871 | BRCA1 | n.2219_2285dup c.2155_2221dup (p.Ser741Ter) c.2029_2095dup (p.Ser699Ter) c.2152_2218dup (p.Ser740Ter) c.2077_2143dup (p.Ser715Ter) c.784+1368_784+1434dup (n.784+1368_784+1434dup) c.646+1368_646+1434dup (n.646+1368_646+1434dup) c.1267_1333dup (p.Ser445Ter) c.2032_2098dup (p.Ser700Ter) c.2014_2080dup (p.Ser694Ter) c.664+1368_664+1434dup (n.664+1368_664+1434dup) c.706+1368_706+1434dup (n.706+1368_706+1434dup) c.671-2344_671-2278dup (n.671-2344_671-2278dup) c.*1938_*2004dup (n.*1938_*2004dup) c.787+1368_787+1434dup (n.787+1368_787+1434dup) c.409+1368_409+1434dup (n.409+1368_409+1434dup) c.412+1368_412+1434dup (n.412+1368_412+1434dup) c.5-29425_5-29359dup (n.5-29425_5-29359dup) c.-43-18855_-43-18789dup (n.-43-18855_-43-18789dup) c.-99+31895_-99+31961dup (n.-99+31895_-99+31961dup) n.2291_2357dup n.2332_2398dup | ClinVar dbSNP |
17 | g.43093359_43093361delinsGGA | CA2580094075 | BRCA1 | n.2234_2236delinsTCC c.2170_2172delinsTCC (p.Pro724Ser) c.2044_2046delinsTCC (p.Pro682Ser) c.2167_2169delinsTCC (p.Pro723Ser) c.2092_2094delinsTCC (p.Pro698Ser) c.784+1383_784+1385delinsTCC (n.784+1383_784+1385delinsTCC) c.646+1383_646+1385delinsTCC (n.646+1383_646+1385delinsTCC) c.1282_1284delinsTCC (p.Pro428Ser) c.2047_2049delinsTCC (p.Pro683Ser) c.2029_2031delinsTCC (p.Pro677Ser) c.664+1383_664+1385delinsTCC (n.664+1383_664+1385delinsTCC) c.706+1383_706+1385delinsTCC (n.706+1383_706+1385delinsTCC) c.671-2329_671-2327delinsTCC (n.671-2329_671-2327delinsTCC) c.*1953_*1955delinsTCC (n.*1953_*1955delinsTCC) c.787+1383_787+1385delinsTCC (n.787+1383_787+1385delinsTCC) c.409+1383_409+1385delinsTCC (n.409+1383_409+1385delinsTCC) c.412+1383_412+1385delinsTCC (n.412+1383_412+1385delinsTCC) c.5-29410_5-29408delinsTCC (n.5-29410_5-29408delinsTCC) c.-43-18840_-43-18838delinsTCC (n.-43-18840_-43-18838delinsTCC) c.-99+31910_-99+31912delinsTCC (n.-99+31910_-99+31912delinsTCC) n.2306_2308delinsTCC n.2347_2349delinsTCC | ClinVar |
17 | g.43093359_43093460delinsAGGATTGACAAATTCTTTAAGTTCACTGGTATTTGAACACTTAGTAAAAGAACCAGGTGCATTTGTTAACTTCAGCTCTGGGAAAGTATCGCTGTCATGTCT | CA2260783879 | BRCA1 | n.2135_2236delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT c.2071_2172delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg691=) c.1945_2046delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg649=) c.2068_2169delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg690=) c.1993_2094delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg665=) c.784+1284_784+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.784+1284_784+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.646+1284_646+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.646+1284_646+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.1183_1284delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg395=) c.1948_2049delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg650=) c.1930_2031delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg644=) c.664+1284_664+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.664+1284_664+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.706+1284_706+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.706+1284_706+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.670+2386_671-2327delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.670+2386_671-2327delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.*1854_*1955delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.*1854_*1955delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.787+1284_787+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.787+1284_787+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.409+1284_409+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.409+1284_409+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.412+1284_412+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.412+1284_412+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.5-29509_5-29408delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.5-29509_5-29408delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.-43-18939_-43-18838delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.-43-18939_-43-18838delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.-99+31811_-99+31912delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.-99+31811_-99+31912delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) n.2207_2308delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT n.2248_2349delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT | |
17 | g.43093360G>A | CA058748 | BRCA1 | n.2235C>T c.2171C>T (p.Pro724Leu) c.2045C>T (p.Pro682Leu) c.2168C>T (p.Pro723Leu) c.2093C>T (p.Pro698Leu) c.784+1384C>T (n.784+1384C>T) c.646+1384C>T (n.646+1384C>T) c.1283C>T (p.Pro428Leu) c.2048C>T (p.Pro683Leu) c.2030C>T (p.Pro677Leu) c.664+1384C>T (n.664+1384C>T) c.706+1384C>T (n.706+1384C>T) c.671-2328C>T (n.671-2328C>T) c.*1954C>T (n.*1954C>T) c.787+1384C>T (n.787+1384C>T) c.409+1384C>T (n.409+1384C>T) c.412+1384C>T (n.412+1384C>T) c.5-29409C>T (n.5-29409C>T) c.-43-18839C>T (n.-43-18839C>T) c.-99+31911C>T (n.-99+31911C>T) n.2307C>T n.2348C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43093360G>C | CA10597660 | BRCA1 | n.2235C>G c.2171C>G (p.Pro724Arg) c.2045C>G (p.Pro682Arg) c.2168C>G (p.Pro723Arg) c.2093C>G (p.Pro698Arg) c.784+1384C>G (n.784+1384C>G) c.646+1384C>G (n.646+1384C>G) c.1283C>G (p.Pro428Arg) c.2048C>G (p.Pro683Arg) c.2030C>G (p.Pro677Arg) c.664+1384C>G (n.664+1384C>G) c.706+1384C>G (n.706+1384C>G) c.671-2328C>G (n.671-2328C>G) c.*1954C>G (n.*1954C>G) c.787+1384C>G (n.787+1384C>G) c.409+1384C>G (n.409+1384C>G) c.412+1384C>G (n.412+1384C>G) c.5-29409C>G (n.5-29409C>G) c.-43-18839C>G (n.-43-18839C>G) c.-99+31911C>G (n.-99+31911C>G) n.2307C>G n.2348C>G | dbSNP |
17 | g.43093360G= | CA2260783880 | BRCA1 | n.2235C= c.2171C= (p.Pro724=) c.2045C= (p.Pro682=) c.2168C= (p.Pro723=) c.2093C= (p.Pro698=) c.784+1384C= (n.784+1384C=) c.646+1384C= (n.646+1384C=) c.1283C= (p.Pro428=) c.2048C= (p.Pro683=) c.2030C= (p.Pro677=) c.664+1384C= (n.664+1384C=) c.706+1384C= (n.706+1384C=) c.671-2328C= (n.671-2328C=) c.*1954C= (n.*1954C=) c.787+1384C= (n.787+1384C=) c.409+1384C= (n.409+1384C=) c.412+1384C= (n.412+1384C=) c.5-29409C= (n.5-29409C=) c.-43-18839C= (n.-43-18839C=) c.-99+31911C= (n.-99+31911C=) n.2307C= n.2348C= | |
17 | g.43093360G>T | CA10597661 | BRCA1 | n.2235C>A c.2171C>A (p.Pro724His) c.2045C>A (p.Pro682His) c.2168C>A (p.Pro723His) c.2093C>A (p.Pro698His) c.784+1384C>A (n.784+1384C>A) c.646+1384C>A (n.646+1384C>A) c.1283C>A (p.Pro428His) c.2048C>A (p.Pro683His) c.2030C>A (p.Pro677His) c.664+1384C>A (n.664+1384C>A) c.706+1384C>A (n.706+1384C>A) c.671-2328C>A (n.671-2328C>A) c.*1954C>A (n.*1954C>A) c.787+1384C>A (n.787+1384C>A) c.409+1384C>A (n.409+1384C>A) c.412+1384C>A (n.412+1384C>A) c.5-29409C>A (n.5-29409C>A) c.-43-18839C>A (n.-43-18839C>A) c.-99+31911C>A (n.-99+31911C>A) n.2307C>A n.2348C>A | dbSNP |
17 | g.43093360_43093460del | CA658824015 | BRCA1 | n.2135_2235del c.2071_2171del (p.Arg691Ter) c.1945_2045del (p.Arg649Ter) c.2068_2168del (p.Arg690Ter) c.1993_2093del (p.Arg665Ter) c.784+1284_784+1384del (n.784+1284_784+1384del) c.646+1284_646+1384del (n.646+1284_646+1384del) c.1183_1283del (p.Arg395Ter) c.1948_2048del (p.Arg650Ter) c.1930_2030del (p.Arg644Ter) c.664+1284_664+1384del (n.664+1284_664+1384del) c.706+1284_706+1384del (n.706+1284_706+1384del) c.670+2386_671-2328del (n.670+2386_671-2328del) c.*1854_*1954del (n.*1854_*1954del) c.787+1284_787+1384del (n.787+1284_787+1384del) c.409+1284_409+1384del (n.409+1284_409+1384del) c.412+1284_412+1384del (n.412+1284_412+1384del) c.5-29509_5-29409del (n.5-29509_5-29409del) c.-43-18939_-43-18839del (n.-43-18939_-43-18839del) c.-99+31811_-99+31911del (n.-99+31811_-99+31911del) n.2207_2307del n.2248_2348del | ClinVar dbSNP |
17 | g.43093361G>A | CA10597662 | BRCA1 | n.2234C>T c.2170C>T (p.Pro724Ser) c.2044C>T (p.Pro682Ser) c.2167C>T (p.Pro723Ser) c.2092C>T (p.Pro698Ser) c.784+1383C>T (n.784+1383C>T) c.646+1383C>T (n.646+1383C>T) c.1282C>T (p.Pro428Ser) c.2047C>T (p.Pro683Ser) c.2029C>T (p.Pro677Ser) c.664+1383C>T (n.664+1383C>T) c.706+1383C>T (n.706+1383C>T) c.671-2329C>T (n.671-2329C>T) c.*1953C>T (n.*1953C>T) c.787+1383C>T (n.787+1383C>T) c.409+1383C>T (n.409+1383C>T) c.412+1383C>T (n.412+1383C>T) c.5-29410C>T (n.5-29410C>T) c.-43-18840C>T (n.-43-18840C>T) c.-99+31910C>T (n.-99+31910C>T) n.2306C>T n.2347C>T | ClinVar dbSNP |
17 | g.43093361G>C | CA10597663 | BRCA1 | n.2234C>G c.2170C>G (p.Pro724Ala) c.2044C>G (p.Pro682Ala) c.2167C>G (p.Pro723Ala) c.2092C>G (p.Pro698Ala) c.784+1383C>G (n.784+1383C>G) c.646+1383C>G (n.646+1383C>G) c.1282C>G (p.Pro428Ala) c.2047C>G (p.Pro683Ala) c.2029C>G (p.Pro677Ala) c.664+1383C>G (n.664+1383C>G) c.706+1383C>G (n.706+1383C>G) c.671-2329C>G (n.671-2329C>G) c.*1953C>G (n.*1953C>G) c.787+1383C>G (n.787+1383C>G) c.409+1383C>G (n.409+1383C>G) c.412+1383C>G (n.412+1383C>G) c.5-29410C>G (n.5-29410C>G) c.-43-18840C>G (n.-43-18840C>G) c.-99+31910C>G (n.-99+31910C>G) n.2306C>G n.2347C>G | dbSNP |
17 | g.43093361G>T | CA10597664 | BRCA1 | n.2234C>A c.2170C>A (p.Pro724Thr) c.2044C>A (p.Pro682Thr) c.2167C>A (p.Pro723Thr) c.2092C>A (p.Pro698Thr) c.784+1383C>A (n.784+1383C>A) c.646+1383C>A (n.646+1383C>A) c.1282C>A (p.Pro428Thr) c.2047C>A (p.Pro683Thr) c.2029C>A (p.Pro677Thr) c.664+1383C>A (n.664+1383C>A) c.706+1383C>A (n.706+1383C>A) c.671-2329C>A (n.671-2329C>A) c.*1953C>A (n.*1953C>A) c.787+1383C>A (n.787+1383C>A) c.409+1383C>A (n.409+1383C>A) c.412+1383C>A (n.412+1383C>A) c.5-29410C>A (n.5-29410C>A) c.-43-18840C>A (n.-43-18840C>A) c.-99+31910C>A (n.-99+31910C>A) n.2306C>A n.2347C>A | dbSNP gnomAD v4 |
17 | g.43093362del | CA500232892 | BRCA1 | n.2233del c.2169del (p.Pro724LeufsTer12) c.2043del (p.Pro682LeufsTer12) c.2166del (p.Pro723LeufsTer12) c.2091del (p.Pro698LeufsTer12) c.784+1382del (n.784+1382del) c.646+1382del (n.646+1382del) c.1281del (p.Pro428LeufsTer12) c.2046del (p.Pro683LeufsTer12) c.2028del (p.Pro677LeufsTer12) c.664+1382del (n.664+1382del) c.706+1382del (n.706+1382del) c.671-2330del (n.671-2330del) c.*1952del (n.*1952del) c.787+1382del (n.787+1382del) c.409+1382del (n.409+1382del) c.412+1382del (n.412+1382del) c.5-29411del (n.5-29411del) c.-43-18841del (n.-43-18841del) c.-99+31909del (n.-99+31909del) n.2305del n.2346del | COSMIC |
17 | g.43093362A= | CA2260783882 | BRCA1 | n.2233T= c.2169T= (p.Asn723=) c.2043T= (p.Asn681=) c.2166T= (p.Asn722=) c.2091T= (p.Asn697=) c.784+1382T= (n.784+1382T=) c.646+1382T= (n.646+1382T=) c.1281T= (p.Asn427=) c.2046T= (p.Asn682=) c.2028T= (p.Asn676=) c.664+1382T= (n.664+1382T=) c.706+1382T= (n.706+1382T=) c.671-2330T= (n.671-2330T=) c.*1952T= (n.*1952T=) c.787+1382T= (n.787+1382T=) c.409+1382T= (n.409+1382T=) c.412+1382T= (n.412+1382T=) c.5-29411T= (n.5-29411T=) c.-43-18841T= (n.-43-18841T=) c.-99+31909T= (n.-99+31909T=) n.2305T= n.2346T= | |
17 | g.43093362A>C | CA10597665 | BRCA1 | n.2233T>G c.2169T>G (p.Asn723Lys) c.2043T>G (p.Asn681Lys) c.2166T>G (p.Asn722Lys) c.2091T>G (p.Asn697Lys) c.784+1382T>G (n.784+1382T>G) c.646+1382T>G (n.646+1382T>G) c.1281T>G (p.Asn427Lys) c.2046T>G (p.Asn682Lys) c.2028T>G (p.Asn676Lys) c.664+1382T>G (n.664+1382T>G) c.706+1382T>G (n.706+1382T>G) c.671-2330T>G (n.671-2330T>G) c.*1952T>G (n.*1952T>G) c.787+1382T>G (n.787+1382T>G) c.409+1382T>G (n.409+1382T>G) c.412+1382T>G (n.412+1382T>G) c.5-29411T>G (n.5-29411T>G) c.-43-18841T>G (n.-43-18841T>G) c.-99+31909T>G (n.-99+31909T>G) n.2305T>G n.2346T>G | dbSNP |
17 | g.43093362A>G | CA500232891 | BRCA1 | n.2233T>C c.2169T>C (p.Asn723=) c.2043T>C (p.Asn681=) c.2166T>C (p.Asn722=) c.2091T>C (p.Asn697=) c.784+1382T>C (n.784+1382T>C) c.646+1382T>C (n.646+1382T>C) c.1281T>C (p.Asn427=) c.2046T>C (p.Asn682=) c.2028T>C (p.Asn676=) c.664+1382T>C (n.664+1382T>C) c.706+1382T>C (n.706+1382T>C) c.671-2330T>C (n.671-2330T>C) c.*1952T>C (n.*1952T>C) c.787+1382T>C (n.787+1382T>C) c.409+1382T>C (n.409+1382T>C) c.412+1382T>C (n.412+1382T>C) c.5-29411T>C (n.5-29411T>C) c.-43-18841T>C (n.-43-18841T>C) c.-99+31909T>C (n.-99+31909T>C) n.2305T>C n.2346T>C | |
17 | g.43093362A>T | CA058752 | BRCA1 | n.2233T>A c.2169T>A (p.Asn723Lys) c.2043T>A (p.Asn681Lys) c.2166T>A (p.Asn722Lys) c.2091T>A (p.Asn697Lys) c.784+1382T>A (n.784+1382T>A) c.646+1382T>A (n.646+1382T>A) c.1281T>A (p.Asn427Lys) c.2046T>A (p.Asn682Lys) c.2028T>A (p.Asn676Lys) c.664+1382T>A (n.664+1382T>A) c.706+1382T>A (n.706+1382T>A) c.671-2330T>A (n.671-2330T>A) c.*1952T>A (n.*1952T>A) c.787+1382T>A (n.787+1382T>A) c.409+1382T>A (n.409+1382T>A) c.412+1382T>A (n.412+1382T>A) c.5-29411T>A (n.5-29411T>A) c.-43-18841T>A (n.-43-18841T>A) c.-99+31909T>A (n.-99+31909T>A) n.2305T>A n.2346T>A | dbSNP ExAC gnomAD v2 |
17 | g.43093362_43093376delinsATTGACAAATTCTTT | CA2260783881 | BRCA1 | n.2219_2233delinsAAAGAATTTGTCAAT c.2155_2169delinsAAAGAATTTGTCAAT (p.Lys719=) c.2029_2043delinsAAAGAATTTGTCAAT (p.Lys677=) c.2152_2166delinsAAAGAATTTGTCAAT (p.Lys718=) c.2077_2091delinsAAAGAATTTGTCAAT (p.Lys693=) c.784+1368_784+1382delinsAAAGAATTTGTCAAT (n.784+1368_784+1382delinsAAAGAATTTGTCAAT) c.646+1368_646+1382delinsAAAGAATTTGTCAAT (n.646+1368_646+1382delinsAAAGAATTTGTCAAT) c.1267_1281delinsAAAGAATTTGTCAAT (p.Lys423=) c.2032_2046delinsAAAGAATTTGTCAAT (p.Lys678=) c.2014_2028delinsAAAGAATTTGTCAAT (p.Lys672=) c.664+1368_664+1382delinsAAAGAATTTGTCAAT (n.664+1368_664+1382delinsAAAGAATTTGTCAAT) c.706+1368_706+1382delinsAAAGAATTTGTCAAT (n.706+1368_706+1382delinsAAAGAATTTGTCAAT) c.671-2344_671-2330delinsAAAGAATTTGTCAAT (n.671-2344_671-2330delinsAAAGAATTTGTCAAT) c.*1938_*1952delinsAAAGAATTTGTCAAT (n.*1938_*1952delinsAAAGAATTTGTCAAT) c.787+1368_787+1382delinsAAAGAATTTGTCAAT (n.787+1368_787+1382delinsAAAGAATTTGTCAAT) c.409+1368_409+1382delinsAAAGAATTTGTCAAT (n.409+1368_409+1382delinsAAAGAATTTGTCAAT) c.412+1368_412+1382delinsAAAGAATTTGTCAAT (n.412+1368_412+1382delinsAAAGAATTTGTCAAT) c.5-29425_5-29411delinsAAAGAATTTGTCAAT (n.5-29425_5-29411delinsAAAGAATTTGTCAAT) c.-43-18855_-43-18841delinsAAAGAATTTGTCAAT (n.-43-18855_-43-18841delinsAAAGAATTTGTCAAT) c.-99+31895_-99+31909delinsAAAGAATTTGTCAAT (n.-99+31895_-99+31909delinsAAAGAATTTGTCAAT) n.2291_2305delinsAAAGAATTTGTCAAT n.2332_2346delinsAAAGAATTTGTCAAT | |
17 | g.43093363T>A | CA10597666 | BRCA1 | n.2232A>T c.2168A>T (p.Asn723Ile) c.2042A>T (p.Asn681Ile) c.2165A>T (p.Asn722Ile) c.2090A>T (p.Asn697Ile) c.784+1381A>T (n.784+1381A>T) c.646+1381A>T (n.646+1381A>T) c.1280A>T (p.Asn427Ile) c.2045A>T (p.Asn682Ile) c.2027A>T (p.Asn676Ile) c.664+1381A>T (n.664+1381A>T) c.706+1381A>T (n.706+1381A>T) c.671-2331A>T (n.671-2331A>T) c.*1951A>T (n.*1951A>T) c.787+1381A>T (n.787+1381A>T) c.409+1381A>T (n.409+1381A>T) c.412+1381A>T (n.412+1381A>T) c.5-29412A>T (n.5-29412A>T) c.-43-18842A>T (n.-43-18842A>T) c.-99+31908A>T (n.-99+31908A>T) n.2304A>T n.2345A>T | dbSNP |
17 | g.43093363T>C | CA10597667 | BRCA1 | n.2232A>G c.2168A>G (p.Asn723Ser) c.2042A>G (p.Asn681Ser) c.2165A>G (p.Asn722Ser) c.2090A>G (p.Asn697Ser) c.784+1381A>G (n.784+1381A>G) c.646+1381A>G (n.646+1381A>G) c.1280A>G (p.Asn427Ser) c.2045A>G (p.Asn682Ser) c.2027A>G (p.Asn676Ser) c.664+1381A>G (n.664+1381A>G) c.706+1381A>G (n.706+1381A>G) c.671-2331A>G (n.671-2331A>G) c.*1951A>G (n.*1951A>G) c.787+1381A>G (n.787+1381A>G) c.409+1381A>G (n.409+1381A>G) c.412+1381A>G (n.412+1381A>G) c.5-29412A>G (n.5-29412A>G) c.-43-18842A>G (n.-43-18842A>G) c.-99+31908A>G (n.-99+31908A>G) n.2304A>G n.2345A>G | ClinVar |
17 | g.43093363T>G | CA10597668 | BRCA1 | n.2232A>C c.2168A>C (p.Asn723Thr) c.2042A>C (p.Asn681Thr) c.2165A>C (p.Asn722Thr) c.2090A>C (p.Asn697Thr) c.784+1381A>C (n.784+1381A>C) c.646+1381A>C (n.646+1381A>C) c.1280A>C (p.Asn427Thr) c.2045A>C (p.Asn682Thr) c.2027A>C (p.Asn676Thr) c.664+1381A>C (n.664+1381A>C) c.706+1381A>C (n.706+1381A>C) c.671-2331A>C (n.671-2331A>C) c.*1951A>C (n.*1951A>C) c.787+1381A>C (n.787+1381A>C) c.409+1381A>C (n.409+1381A>C) c.412+1381A>C (n.412+1381A>C) c.5-29412A>C (n.5-29412A>C) c.-43-18842A>C (n.-43-18842A>C) c.-99+31908A>C (n.-99+31908A>C) n.2304A>C n.2345A>C | dbSNP |
17 | g.43093363_43093376del | CA001441 | BRCA1 | n.2219_2232del c.2155_2168del (p.Lys719SerfsTer2) c.2029_2042del (p.Lys677SerfsTer2) c.2152_2165del (p.Lys718SerfsTer2) c.2077_2090del (p.Lys693SerfsTer2) c.784+1368_784+1381del (n.784+1368_784+1381del) c.646+1368_646+1381del (n.646+1368_646+1381del) c.1267_1280del (p.Lys423SerfsTer2) c.2032_2045del (p.Lys678SerfsTer2) c.2014_2027del (p.Lys672SerfsTer2) c.664+1368_664+1381del (n.664+1368_664+1381del) c.706+1368_706+1381del (n.706+1368_706+1381del) c.671-2344_671-2331del (n.671-2344_671-2331del) c.*1938_*1951del (n.*1938_*1951del) c.787+1368_787+1381del (n.787+1368_787+1381del) c.409+1368_409+1381del (n.409+1368_409+1381del) c.412+1368_412+1381del (n.412+1368_412+1381del) c.5-29425_5-29412del (n.5-29425_5-29412del) c.-43-18855_-43-18842del (n.-43-18855_-43-18842del) c.-99+31895_-99+31908del (n.-99+31895_-99+31908del) n.2291_2304del n.2332_2345del | ClinVar dbSNP |
17 | g.43093364T>A | CA10597669 | BRCA1 | n.2231A>T c.2167A>T (p.Asn723Tyr) c.2041A>T (p.Asn681Tyr) c.2164A>T (p.Asn722Tyr) c.2089A>T (p.Asn697Tyr) c.784+1380A>T (n.784+1380A>T) c.646+1380A>T (n.646+1380A>T) c.1279A>T (p.Asn427Tyr) c.2044A>T (p.Asn682Tyr) c.2026A>T (p.Asn676Tyr) c.664+1380A>T (n.664+1380A>T) c.706+1380A>T (n.706+1380A>T) c.671-2332A>T (n.671-2332A>T) c.*1950A>T (n.*1950A>T) c.787+1380A>T (n.787+1380A>T) c.409+1380A>T (n.409+1380A>T) c.412+1380A>T (n.412+1380A>T) c.5-29413A>T (n.5-29413A>T) c.-43-18843A>T (n.-43-18843A>T) c.-99+31907A>T (n.-99+31907A>T) n.2303A>T n.2344A>T | dbSNP |
17 | g.43093364T>C | CA001447 | BRCA1 | n.2231A>G c.2167A>G (p.Asn723Asp) c.2041A>G (p.Asn681Asp) c.2164A>G (p.Asn722Asp) c.2089A>G (p.Asn697Asp) c.784+1380A>G (n.784+1380A>G) c.646+1380A>G (n.646+1380A>G) c.1279A>G (p.Asn427Asp) c.2044A>G (p.Asn682Asp) c.2026A>G (p.Asn676Asp) c.664+1380A>G (n.664+1380A>G) c.706+1380A>G (n.706+1380A>G) c.671-2332A>G (n.671-2332A>G) c.*1950A>G (n.*1950A>G) c.787+1380A>G (n.787+1380A>G) c.409+1380A>G (n.409+1380A>G) c.412+1380A>G (n.412+1380A>G) c.5-29413A>G (n.5-29413A>G) c.-43-18843A>G (n.-43-18843A>G) c.-99+31907A>G (n.-99+31907A>G) n.2303A>G n.2344A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43093364T>G | CA10597670 | BRCA1 | n.2231A>C c.2167A>C (p.Asn723His) c.2041A>C (p.Asn681His) c.2164A>C (p.Asn722His) c.2089A>C (p.Asn697His) c.784+1380A>C (n.784+1380A>C) c.646+1380A>C (n.646+1380A>C) c.1279A>C (p.Asn427His) c.2044A>C (p.Asn682His) c.2026A>C (p.Asn676His) c.664+1380A>C (n.664+1380A>C) c.706+1380A>C (n.706+1380A>C) c.671-2332A>C (n.671-2332A>C) c.*1950A>C (n.*1950A>C) c.787+1380A>C (n.787+1380A>C) c.409+1380A>C (n.409+1380A>C) c.412+1380A>C (n.412+1380A>C) c.5-29413A>C (n.5-29413A>C) c.-43-18843A>C (n.-43-18843A>C) c.-99+31907A>C (n.-99+31907A>C) n.2303A>C n.2344A>C | |
17 | g.43093364T= | CA2260783883 | BRCA1 | n.2231A= c.2167A= (p.Asn723=) c.2041A= (p.Asn681=) c.2164A= (p.Asn722=) c.2089A= (p.Asn697=) c.784+1380A= (n.784+1380A=) c.646+1380A= (n.646+1380A=) c.1279A= (p.Asn427=) c.2044A= (p.Asn682=) c.2026A= (p.Asn676=) c.664+1380A= (n.664+1380A=) c.706+1380A= (n.706+1380A=) c.671-2332A= (n.671-2332A=) c.*1950A= (n.*1950A=) c.787+1380A= (n.787+1380A=) c.409+1380A= (n.409+1380A=) c.412+1380A= (n.412+1380A=) c.5-29413A= (n.5-29413A=) c.-43-18843A= (n.-43-18843A=) c.-99+31907A= (n.-99+31907A=) n.2303A= n.2344A= | |
17 | g.43093364_43093365delinsTG | CA2260783884 | BRCA1 | n.2230_2231delinsCA c.2166_2167delinsCA (p.Val722=) c.2040_2041delinsCA (p.Val680=) c.2163_2164delinsCA (p.Val721=) c.2088_2089delinsCA (p.Val696=) c.784+1379_784+1380delinsCA (n.784+1379_784+1380delinsCA) c.646+1379_646+1380delinsCA (n.646+1379_646+1380delinsCA) c.1278_1279delinsCA (p.Val426=) c.2043_2044delinsCA (p.Val681=) c.2025_2026delinsCA (p.Val675=) c.664+1379_664+1380delinsCA (n.664+1379_664+1380delinsCA) c.706+1379_706+1380delinsCA (n.706+1379_706+1380delinsCA) c.671-2333_671-2332delinsCA (n.671-2333_671-2332delinsCA) c.*1949_*1950delinsCA (n.*1949_*1950delinsCA) c.787+1379_787+1380delinsCA (n.787+1379_787+1380delinsCA) c.409+1379_409+1380delinsCA (n.409+1379_409+1380delinsCA) c.412+1379_412+1380delinsCA (n.412+1379_412+1380delinsCA) c.5-29414_5-29413delinsCA (n.5-29414_5-29413delinsCA) c.-43-18844_-43-18843delinsCA (n.-43-18844_-43-18843delinsCA) c.-99+31906_-99+31907delinsCA (n.-99+31906_-99+31907delinsCA) n.2302_2303delinsCA n.2343_2344delinsCA | |
17 | g.43093365del | CA001446 | BRCA1 | n.2230del c.2166del (p.Asn723IlefsTer13) c.2040del (p.Asn681IlefsTer13) c.2163del (p.Asn722IlefsTer13) c.2088del (p.Asn697IlefsTer13) c.784+1379del (n.784+1379del) c.646+1379del (n.646+1379del) c.1278del (p.Asn427IlefsTer13) c.2043del (p.Asn682IlefsTer13) c.2025del (p.Asn676IlefsTer13) c.664+1379del (n.664+1379del) c.706+1379del (n.706+1379del) c.671-2333del (n.671-2333del) c.*1949del (n.*1949del) c.787+1379del (n.787+1379del) c.409+1379del (n.409+1379del) c.412+1379del (n.412+1379del) c.5-29414del (n.5-29414del) c.-43-18844del (n.-43-18844del) c.-99+31906del (n.-99+31906del) n.2302del n.2343del | ClinVar dbSNP |
17 | g.43093365G>A | CA500232893 | BRCA1 | n.2230C>T c.2166C>T (p.Val722=) c.2040C>T (p.Val680=) c.2163C>T (p.Val721=) c.2088C>T (p.Val696=) c.784+1379C>T (n.784+1379C>T) c.646+1379C>T (n.646+1379C>T) c.1278C>T (p.Val426=) c.2043C>T (p.Val681=) c.2025C>T (p.Val675=) c.664+1379C>T (n.664+1379C>T) c.706+1379C>T (n.706+1379C>T) c.671-2333C>T (n.671-2333C>T) c.*1949C>T (n.*1949C>T) c.787+1379C>T (n.787+1379C>T) c.409+1379C>T (n.409+1379C>T) c.412+1379C>T (n.412+1379C>T) c.5-29414C>T (n.5-29414C>T) c.-43-18844C>T (n.-43-18844C>T) c.-99+31906C>T (n.-99+31906C>T) n.2302C>T n.2343C>T | |
17 | g.43093365G>C | CA500232895 | BRCA1 | n.2230C>G c.2166C>G (p.Val722=) c.2040C>G (p.Val680=) c.2163C>G (p.Val721=) c.2088C>G (p.Val696=) c.784+1379C>G (n.784+1379C>G) c.646+1379C>G (n.646+1379C>G) c.1278C>G (p.Val426=) c.2043C>G (p.Val681=) c.2025C>G (p.Val675=) c.664+1379C>G (n.664+1379C>G) c.706+1379C>G (n.706+1379C>G) c.671-2333C>G (n.671-2333C>G) c.*1949C>G (n.*1949C>G) c.787+1379C>G (n.787+1379C>G) c.409+1379C>G (n.409+1379C>G) c.412+1379C>G (n.412+1379C>G) c.5-29414C>G (n.5-29414C>G) c.-43-18844C>G (n.-43-18844C>G) c.-99+31906C>G (n.-99+31906C>G) n.2302C>G n.2343C>G | |
17 | g.43093365G>T | CA500232894 | BRCA1 | n.2230C>A c.2166C>A (p.Val722=) c.2040C>A (p.Val680=) c.2163C>A (p.Val721=) c.2088C>A (p.Val696=) c.784+1379C>A (n.784+1379C>A) c.646+1379C>A (n.646+1379C>A) c.1278C>A (p.Val426=) c.2043C>A (p.Val681=) c.2025C>A (p.Val675=) c.664+1379C>A (n.664+1379C>A) c.706+1379C>A (n.706+1379C>A) c.671-2333C>A (n.671-2333C>A) c.*1949C>A (n.*1949C>A) c.787+1379C>A (n.787+1379C>A) c.409+1379C>A (n.409+1379C>A) c.412+1379C>A (n.412+1379C>A) c.5-29414C>A (n.5-29414C>A) c.-43-18844C>A (n.-43-18844C>A) c.-99+31906C>A (n.-99+31906C>A) n.2302C>A n.2343C>A | |
17 | g.43093366A= | CA2260783886 | BRCA1 | n.2229T= c.2165T= (p.Val722=) c.2039T= (p.Val680=) c.2162T= (p.Val721=) c.2087T= (p.Val696=) c.784+1378T= (n.784+1378T=) c.646+1378T= (n.646+1378T=) c.1277T= (p.Val426=) c.2042T= (p.Val681=) c.2024T= (p.Val675=) c.664+1378T= (n.664+1378T=) c.706+1378T= (n.706+1378T=) c.671-2334T= (n.671-2334T=) c.*1948T= (n.*1948T=) c.787+1378T= (n.787+1378T=) c.409+1378T= (n.409+1378T=) c.412+1378T= (n.412+1378T=) c.5-29415T= (n.5-29415T=) c.-43-18845T= (n.-43-18845T=) c.-99+31905T= (n.-99+31905T=) n.2301T= n.2342T= | |
17 | g.43093366A>C | CA10597671 | BRCA1 | n.2229T>G c.2165T>G (p.Val722Gly) c.2039T>G (p.Val680Gly) c.2162T>G (p.Val721Gly) c.2087T>G (p.Val696Gly) c.784+1378T>G (n.784+1378T>G) c.646+1378T>G (n.646+1378T>G) c.1277T>G (p.Val426Gly) c.2042T>G (p.Val681Gly) c.2024T>G (p.Val675Gly) c.664+1378T>G (n.664+1378T>G) c.706+1378T>G (n.706+1378T>G) c.671-2334T>G (n.671-2334T>G) c.*1948T>G (n.*1948T>G) c.787+1378T>G (n.787+1378T>G) c.409+1378T>G (n.409+1378T>G) c.412+1378T>G (n.412+1378T>G) c.5-29415T>G (n.5-29415T>G) c.-43-18845T>G (n.-43-18845T>G) c.-99+31905T>G (n.-99+31905T>G) n.2301T>G n.2342T>G | dbSNP |
17 | g.43093366A>G | CA10597672 | BRCA1 | n.2229T>C c.2165T>C (p.Val722Ala) c.2039T>C (p.Val680Ala) c.2162T>C (p.Val721Ala) c.2087T>C (p.Val696Ala) c.784+1378T>C (n.784+1378T>C) c.646+1378T>C (n.646+1378T>C) c.1277T>C (p.Val426Ala) c.2042T>C (p.Val681Ala) c.2024T>C (p.Val675Ala) c.664+1378T>C (n.664+1378T>C) c.706+1378T>C (n.706+1378T>C) c.671-2334T>C (n.671-2334T>C) c.*1948T>C (n.*1948T>C) c.787+1378T>C (n.787+1378T>C) c.409+1378T>C (n.409+1378T>C) c.412+1378T>C (n.412+1378T>C) c.5-29415T>C (n.5-29415T>C) c.-43-18845T>C (n.-43-18845T>C) c.-99+31905T>C (n.-99+31905T>C) n.2301T>C n.2342T>C | ClinVar dbSNP |
17 | g.43093366A>T | CA10597673 | BRCA1 | n.2229T>A c.2165T>A (p.Val722Asp) c.2039T>A (p.Val680Asp) c.2162T>A (p.Val721Asp) c.2087T>A (p.Val696Asp) c.784+1378T>A (n.784+1378T>A) c.646+1378T>A (n.646+1378T>A) c.1277T>A (p.Val426Asp) c.2042T>A (p.Val681Asp) c.2024T>A (p.Val675Asp) c.664+1378T>A (n.664+1378T>A) c.706+1378T>A (n.706+1378T>A) c.671-2334T>A (n.671-2334T>A) c.*1948T>A (n.*1948T>A) c.787+1378T>A (n.787+1378T>A) c.409+1378T>A (n.409+1378T>A) c.412+1378T>A (n.412+1378T>A) c.5-29415T>A (n.5-29415T>A) c.-43-18845T>A (n.-43-18845T>A) c.-99+31905T>A (n.-99+31905T>A) n.2301T>A n.2342T>A | dbSNP |
17 | g.43093366_43093367delinsAC | CA2260783885 | BRCA1 | n.2228_2229delinsGT c.2164_2165delinsGT (p.Val722=) c.2038_2039delinsGT (p.Val680=) c.2161_2162delinsGT (p.Val721=) c.2086_2087delinsGT (p.Val696=) c.784+1377_784+1378delinsGT (n.784+1377_784+1378delinsGT) c.646+1377_646+1378delinsGT (n.646+1377_646+1378delinsGT) c.1276_1277delinsGT (p.Val426=) c.2041_2042delinsGT (p.Val681=) c.2023_2024delinsGT (p.Val675=) c.664+1377_664+1378delinsGT (n.664+1377_664+1378delinsGT) c.706+1377_706+1378delinsGT (n.706+1377_706+1378delinsGT) c.671-2335_671-2334delinsGT (n.671-2335_671-2334delinsGT) c.*1947_*1948delinsGT (n.*1947_*1948delinsGT) c.787+1377_787+1378delinsGT (n.787+1377_787+1378delinsGT) c.409+1377_409+1378delinsGT (n.409+1377_409+1378delinsGT) c.412+1377_412+1378delinsGT (n.412+1377_412+1378delinsGT) c.5-29416_5-29415delinsGT (n.5-29416_5-29415delinsGT) c.-43-18846_-43-18845delinsGT (n.-43-18846_-43-18845delinsGT) c.-99+31904_-99+31905delinsGT (n.-99+31904_-99+31905delinsGT) n.2300_2301delinsGT n.2341_2342delinsGT | |
17 | g.43093367_43093370del | CA2499224518 | BRCA1 | n.2226_2229del c.2162_2165del (p.Phe721SerfsTer14) c.2036_2039del (p.Phe679SerfsTer14) c.2159_2162del (p.Phe720SerfsTer14) c.2084_2087del (p.Phe695SerfsTer14) c.784+1375_784+1378del (n.784+1375_784+1378del) c.646+1375_646+1378del (n.646+1375_646+1378del) c.1274_1277del (p.Phe425SerfsTer14) c.2039_2042del (p.Phe680SerfsTer14) c.2021_2024del (p.Phe674SerfsTer14) c.664+1375_664+1378del (n.664+1375_664+1378del) c.706+1375_706+1378del (n.706+1375_706+1378del) c.671-2337_671-2334del (n.671-2337_671-2334del) c.*1945_*1948del (n.*1945_*1948del) c.787+1375_787+1378del (n.787+1375_787+1378del) c.409+1375_409+1378del (n.409+1375_409+1378del) c.412+1375_412+1378del (n.412+1375_412+1378del) c.5-29418_5-29415del (n.5-29418_5-29415del) c.-43-18848_-43-18845del (n.-43-18848_-43-18845del) c.-99+31902_-99+31905del (n.-99+31902_-99+31905del) n.2298_2301del n.2339_2342del | ClinVar dbSNP |
17 | g.43093367del | CA658656731 | BRCA1 | n.2228del c.2164del (p.Val722SerfsTer14) c.2038del (p.Val680SerfsTer14) c.2161del (p.Val721SerfsTer14) c.2086del (p.Val696SerfsTer14) c.784+1377del (n.784+1377del) c.646+1377del (n.646+1377del) c.1276del (p.Val426SerfsTer14) c.2041del (p.Val681SerfsTer14) c.2023del (p.Val675SerfsTer14) c.664+1377del (n.664+1377del) c.706+1377del (n.706+1377del) c.671-2335del (n.671-2335del) c.*1947del (n.*1947del) c.787+1377del (n.787+1377del) c.409+1377del (n.409+1377del) c.412+1377del (n.412+1377del) c.5-29416del (n.5-29416del) c.-43-18846del (n.-43-18846del) c.-99+31904del (n.-99+31904del) n.2300del n.2341del | ClinVar dbSNP |
17 | g.43093367C>A | CA10597674 | BRCA1 | n.2228G>T c.2164G>T (p.Val722Phe) c.2038G>T (p.Val680Phe) c.2161G>T (p.Val721Phe) c.2086G>T (p.Val696Phe) c.784+1377G>T (n.784+1377G>T) c.646+1377G>T (n.646+1377G>T) c.1276G>T (p.Val426Phe) c.2041G>T (p.Val681Phe) c.2023G>T (p.Val675Phe) c.664+1377G>T (n.664+1377G>T) c.706+1377G>T (n.706+1377G>T) c.671-2335G>T (n.671-2335G>T) c.*1947G>T (n.*1947G>T) c.787+1377G>T (n.787+1377G>T) c.409+1377G>T (n.409+1377G>T) c.412+1377G>T (n.412+1377G>T) c.5-29416G>T (n.5-29416G>T) c.-43-18846G>T (n.-43-18846G>T) c.-99+31904G>T (n.-99+31904G>T) n.2300G>T n.2341G>T | ClinVar dbSNP gnomAD v4 |
17 | g.43093367C= | CA2260783889 | BRCA1 | n.2228G= c.2164G= (p.Val722=) c.2038G= (p.Val680=) c.2161G= (p.Val721=) c.2086G= (p.Val696=) c.784+1377G= (n.784+1377G=) c.646+1377G= (n.646+1377G=) c.1276G= (p.Val426=) c.2041G= (p.Val681=) c.2023G= (p.Val675=) c.664+1377G= (n.664+1377G=) c.706+1377G= (n.706+1377G=) c.671-2335G= (n.671-2335G=) c.*1947G= (n.*1947G=) c.787+1377G= (n.787+1377G=) c.409+1377G= (n.409+1377G=) c.412+1377G= (n.412+1377G=) c.5-29416G= (n.5-29416G=) c.-43-18846G= (n.-43-18846G=) c.-99+31904G= (n.-99+31904G=) n.2300G= n.2341G= | |
17 | g.43093367C>G | CA10597675 | BRCA1 | n.2228G>C c.2164G>C (p.Val722Leu) c.2038G>C (p.Val680Leu) c.2161G>C (p.Val721Leu) c.2086G>C (p.Val696Leu) c.784+1377G>C (n.784+1377G>C) c.646+1377G>C (n.646+1377G>C) c.1276G>C (p.Val426Leu) c.2041G>C (p.Val681Leu) c.2023G>C (p.Val675Leu) c.664+1377G>C (n.664+1377G>C) c.706+1377G>C (n.706+1377G>C) c.671-2335G>C (n.671-2335G>C) c.*1947G>C (n.*1947G>C) c.787+1377G>C (n.787+1377G>C) c.409+1377G>C (n.409+1377G>C) c.412+1377G>C (n.412+1377G>C) c.5-29416G>C (n.5-29416G>C) c.-43-18846G>C (n.-43-18846G>C) c.-99+31904G>C (n.-99+31904G>C) n.2300G>C n.2341G>C | |
17 | g.43093367C>T | CA10597676 | BRCA1 | n.2228G>A c.2164G>A (p.Val722Ile) c.2038G>A (p.Val680Ile) c.2161G>A (p.Val721Ile) c.2086G>A (p.Val696Ile) c.784+1377G>A (n.784+1377G>A) c.646+1377G>A (n.646+1377G>A) c.1276G>A (p.Val426Ile) c.2041G>A (p.Val681Ile) c.2023G>A (p.Val675Ile) c.664+1377G>A (n.664+1377G>A) c.706+1377G>A (n.706+1377G>A) c.671-2335G>A (n.671-2335G>A) c.*1947G>A (n.*1947G>A) c.787+1377G>A (n.787+1377G>A) c.409+1377G>A (n.409+1377G>A) c.412+1377G>A (n.412+1377G>A) c.5-29416G>A (n.5-29416G>A) c.-43-18846G>A (n.-43-18846G>A) c.-99+31904G>A (n.-99+31904G>A) n.2300G>A n.2341G>A | |
17 | g.43093367_43093369delinsCAA | CA2260783888 | BRCA1 | n.2226_2228delinsTTG c.2162_2164delinsTTG (p.Phe721=) c.2036_2038delinsTTG (p.Phe679=) c.2159_2161delinsTTG (p.Phe720=) c.2084_2086delinsTTG (p.Phe695=) c.784+1375_784+1377delinsTTG (n.784+1375_784+1377delinsTTG) c.646+1375_646+1377delinsTTG (n.646+1375_646+1377delinsTTG) c.1274_1276delinsTTG (p.Phe425=) c.2039_2041delinsTTG (p.Phe680=) c.2021_2023delinsTTG (p.Phe674=) c.664+1375_664+1377delinsTTG (n.664+1375_664+1377delinsTTG) c.706+1375_706+1377delinsTTG (n.706+1375_706+1377delinsTTG) c.671-2337_671-2335delinsTTG (n.671-2337_671-2335delinsTTG) c.*1945_*1947delinsTTG (n.*1945_*1947delinsTTG) c.787+1375_787+1377delinsTTG (n.787+1375_787+1377delinsTTG) c.409+1375_409+1377delinsTTG (n.409+1375_409+1377delinsTTG) c.412+1375_412+1377delinsTTG (n.412+1375_412+1377delinsTTG) c.5-29418_5-29416delinsTTG (n.5-29418_5-29416delinsTTG) c.-43-18848_-43-18846delinsTTG (n.-43-18848_-43-18846delinsTTG) c.-99+31902_-99+31904delinsTTG (n.-99+31902_-99+31904delinsTTG) n.2298_2300delinsTTG n.2339_2341delinsTTG | |
17 | g.43093367_43093376delinsCAAATTCTTT | CA2260783887 | BRCA1 | n.2219_2228delinsAAAGAATTTG c.2155_2164delinsAAAGAATTTG (p.Lys719=) c.2029_2038delinsAAAGAATTTG (p.Lys677=) c.2152_2161delinsAAAGAATTTG (p.Lys718=) c.2077_2086delinsAAAGAATTTG (p.Lys693=) c.784+1368_784+1377delinsAAAGAATTTG (n.784+1368_784+1377delinsAAAGAATTTG) c.646+1368_646+1377delinsAAAGAATTTG (n.646+1368_646+1377delinsAAAGAATTTG) c.1267_1276delinsAAAGAATTTG (p.Lys423=) c.2032_2041delinsAAAGAATTTG (p.Lys678=) c.2014_2023delinsAAAGAATTTG (p.Lys672=) c.664+1368_664+1377delinsAAAGAATTTG (n.664+1368_664+1377delinsAAAGAATTTG) c.706+1368_706+1377delinsAAAGAATTTG (n.706+1368_706+1377delinsAAAGAATTTG) c.671-2344_671-2335delinsAAAGAATTTG (n.671-2344_671-2335delinsAAAGAATTTG) c.*1938_*1947delinsAAAGAATTTG (n.*1938_*1947delinsAAAGAATTTG) c.787+1368_787+1377delinsAAAGAATTTG (n.787+1368_787+1377delinsAAAGAATTTG) c.409+1368_409+1377delinsAAAGAATTTG (n.409+1368_409+1377delinsAAAGAATTTG) c.412+1368_412+1377delinsAAAGAATTTG (n.412+1368_412+1377delinsAAAGAATTTG) c.5-29425_5-29416delinsAAAGAATTTG (n.5-29425_5-29416delinsAAAGAATTTG) c.-43-18855_-43-18846delinsAAAGAATTTG (n.-43-18855_-43-18846delinsAAAGAATTTG) c.-99+31895_-99+31904delinsAAAGAATTTG (n.-99+31895_-99+31904delinsAAAGAATTTG) n.2291_2300delinsAAAGAATTTG n.2332_2341delinsAAAGAATTTG |