UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.43093277_43093359dup | CA2580094061 | BRCA1 | n.2238_2320dup c.2174_2256dup (p.Ser753AlafsTer11) c.2048_2130dup (p.Ser711AlafsTer11) c.2171_2253dup (p.Ser752AlafsTer11) c.2096_2178dup (p.Ser727AlafsTer11) c.784+1387_784+1469dup (n.784+1387_784+1469dup) c.646+1387_646+1469dup (n.646+1387_646+1469dup) c.1286_1368dup (p.Ser457AlafsTer11) c.2051_2133dup (p.Ser712AlafsTer11) c.2033_2115dup (p.Ser706AlafsTer11) c.664+1387_664+1469dup (n.664+1387_664+1469dup) c.706+1387_706+1469dup (n.706+1387_706+1469dup) c.671-2325_671-2243dup (n.671-2325_671-2243dup) c.*1957_*2039dup (n.*1957_*2039dup) c.787+1387_787+1469dup (n.787+1387_787+1469dup) c.409+1387_409+1469dup (n.409+1387_409+1469dup) c.412+1387_412+1469dup (n.412+1387_412+1469dup) c.5-29406_5-29324dup (n.5-29406_5-29324dup) c.-43-18836_-43-18754dup (n.-43-18836_-43-18754dup) c.-99+31914_-99+31996dup (n.-99+31914_-99+31996dup) n.2310_2392dup n.2351_2433dup | ClinVar |
| 17 | g.43093305_43093341del | CA2695226001 | BRCA1 | n.2256_2292del c.2192_2228del (p.Lys731MetfsTer10) c.2066_2102del (p.Lys689MetfsTer10) c.2189_2225del (p.Lys730MetfsTer10) c.2114_2150del (p.Lys705MetfsTer10) c.784+1405_784+1441del (n.784+1405_784+1441del) c.646+1405_646+1441del (n.646+1405_646+1441del) c.1304_1340del (p.Lys435MetfsTer10) c.2069_2105del (p.Lys690MetfsTer10) c.2051_2087del (p.Lys684MetfsTer10) c.664+1405_664+1441del (n.664+1405_664+1441del) c.706+1405_706+1441del (n.706+1405_706+1441del) c.671-2307_671-2271del (n.671-2307_671-2271del) c.*1975_*2011del (n.*1975_*2011del) c.787+1405_787+1441del (n.787+1405_787+1441del) c.409+1405_409+1441del (n.409+1405_409+1441del) c.412+1405_412+1441del (n.412+1405_412+1441del) c.5-29388_5-29352del (n.5-29388_5-29352del) c.-43-18818_-43-18782del (n.-43-18818_-43-18782del) c.-99+31932_-99+31968del (n.-99+31932_-99+31968del) n.2328_2364del n.2369_2405del | |
| 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.43093327_43093333del | CA2733916344 | BRCA1 | n.2268_2274del c.2204_2210del (p.Leu735GlnfsTer16) c.2078_2084del (p.Leu693GlnfsTer16) c.2201_2207del (p.Leu734GlnfsTer16) c.2126_2132del (p.Leu709GlnfsTer16) c.784+1417_784+1423del (n.784+1417_784+1423del) c.646+1417_646+1423del (n.646+1417_646+1423del) c.1316_1322del (p.Leu439GlnfsTer16) c.2081_2087del (p.Leu694GlnfsTer16) c.2063_2069del (p.Leu688GlnfsTer16) c.664+1417_664+1423del (n.664+1417_664+1423del) c.706+1417_706+1423del (n.706+1417_706+1423del) c.671-2295_671-2289del (n.671-2295_671-2289del) c.*1987_*1993del (n.*1987_*1993del) c.787+1417_787+1423del (n.787+1417_787+1423del) c.409+1417_409+1423del (n.409+1417_409+1423del) c.412+1417_412+1423del (n.412+1417_412+1423del) c.5-29376_5-29370del (n.5-29376_5-29370del) c.-43-18806_-43-18800del (n.-43-18806_-43-18800del) c.-99+31944_-99+31950del (n.-99+31944_-99+31950del) n.2340_2346del n.2381_2387del | dbSNP |
| 17 | g.43093327_43093328delinsAG | CA2260783836 | BRCA1 | n.2267_2268delinsCT c.2203_2204delinsCT (p.Leu735=) c.2077_2078delinsCT (p.Leu693=) c.2200_2201delinsCT (p.Leu734=) c.2125_2126delinsCT (p.Leu709=) c.784+1416_784+1417delinsCT (n.784+1416_784+1417delinsCT) c.646+1416_646+1417delinsCT (n.646+1416_646+1417delinsCT) c.1315_1316delinsCT (p.Leu439=) c.2080_2081delinsCT (p.Leu694=) c.2062_2063delinsCT (p.Leu688=) c.664+1416_664+1417delinsCT (n.664+1416_664+1417delinsCT) c.706+1416_706+1417delinsCT (n.706+1416_706+1417delinsCT) c.671-2296_671-2295delinsCT (n.671-2296_671-2295delinsCT) c.*1986_*1987delinsCT (n.*1986_*1987delinsCT) c.787+1416_787+1417delinsCT (n.787+1416_787+1417delinsCT) c.409+1416_409+1417delinsCT (n.409+1416_409+1417delinsCT) c.412+1416_412+1417delinsCT (n.412+1416_412+1417delinsCT) c.5-29377_5-29376delinsCT (n.5-29377_5-29376delinsCT) c.-43-18807_-43-18806delinsCT (n.-43-18807_-43-18806delinsCT) c.-99+31943_-99+31944delinsCT (n.-99+31943_-99+31944delinsCT) n.2339_2340delinsCT n.2380_2381delinsCT | |
| 17 | g.43093328del | CA001473 | BRCA1 | n.2267del c.2203del (p.Leu735Ter) c.2077del (p.Leu693Ter) c.2200del (p.Leu734Ter) c.2125del (p.Leu709Ter) c.784+1416del (n.784+1416del) c.646+1416del (n.646+1416del) c.1315del (p.Leu439Ter) c.2080del (p.Leu694Ter) c.2062del (p.Leu688Ter) c.664+1416del (n.664+1416del) c.706+1416del (n.706+1416del) c.671-2296del (n.671-2296del) c.*1986del (n.*1986del) c.787+1416del (n.787+1416del) c.409+1416del (n.409+1416del) c.412+1416del (n.412+1416del) c.5-29377del (n.5-29377del) c.-43-18807del (n.-43-18807del) c.-99+31943del (n.-99+31943del) n.2339del n.2380del | ClinVar dbSNP |
| 17 | g.43093328G>A | CA500233241 | BRCA1 | n.2267C>T c.2203C>T (p.Leu735=) c.2077C>T (p.Leu693=) c.2200C>T (p.Leu734=) c.2125C>T (p.Leu709=) c.784+1416C>T (n.784+1416C>T) c.646+1416C>T (n.646+1416C>T) c.1315C>T (p.Leu439=) c.2080C>T (p.Leu694=) c.2062C>T (p.Leu688=) c.664+1416C>T (n.664+1416C>T) c.706+1416C>T (n.706+1416C>T) c.671-2296C>T (n.671-2296C>T) c.*1986C>T (n.*1986C>T) c.787+1416C>T (n.787+1416C>T) c.409+1416C>T (n.409+1416C>T) c.412+1416C>T (n.412+1416C>T) c.5-29377C>T (n.5-29377C>T) c.-43-18807C>T (n.-43-18807C>T) c.-99+31943C>T (n.-99+31943C>T) n.2339C>T n.2380C>T | ClinVar dbSNP |
| 17 | g.43093328G>C | CA001472 | BRCA1 | n.2267C>G c.2203C>G (p.Leu735Val) c.2077C>G (p.Leu693Val) c.2200C>G (p.Leu734Val) c.2125C>G (p.Leu709Val) c.784+1416C>G (n.784+1416C>G) c.646+1416C>G (n.646+1416C>G) c.1315C>G (p.Leu439Val) c.2080C>G (p.Leu694Val) c.2062C>G (p.Leu688Val) c.664+1416C>G (n.664+1416C>G) c.706+1416C>G (n.706+1416C>G) c.671-2296C>G (n.671-2296C>G) c.*1986C>G (n.*1986C>G) c.787+1416C>G (n.787+1416C>G) c.409+1416C>G (n.409+1416C>G) c.412+1416C>G (n.412+1416C>G) c.5-29377C>G (n.5-29377C>G) c.-43-18807C>G (n.-43-18807C>G) c.-99+31943C>G (n.-99+31943C>G) n.2339C>G n.2380C>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43093328G= | CA2260783838 | BRCA1 | n.2267C= c.2203C= (p.Leu735=) c.2077C= (p.Leu693=) c.2200C= (p.Leu734=) c.2125C= (p.Leu709=) c.784+1416C= (n.784+1416C=) c.646+1416C= (n.646+1416C=) c.1315C= (p.Leu439=) c.2080C= (p.Leu694=) c.2062C= (p.Leu688=) c.664+1416C= (n.664+1416C=) c.706+1416C= (n.706+1416C=) c.671-2296C= (n.671-2296C=) c.*1986C= (n.*1986C=) c.787+1416C= (n.787+1416C=) c.409+1416C= (n.409+1416C=) c.412+1416C= (n.412+1416C=) c.5-29377C= (n.5-29377C=) c.-43-18807C= (n.-43-18807C=) c.-99+31943C= (n.-99+31943C=) n.2339C= n.2380C= | |
| 17 | g.43093328G>T | CA10597591 | BRCA1 | n.2267C>A c.2203C>A (p.Leu735Ile) c.2077C>A (p.Leu693Ile) c.2200C>A (p.Leu734Ile) c.2125C>A (p.Leu709Ile) c.784+1416C>A (n.784+1416C>A) c.646+1416C>A (n.646+1416C>A) c.1315C>A (p.Leu439Ile) c.2080C>A (p.Leu694Ile) c.2062C>A (p.Leu688Ile) c.664+1416C>A (n.664+1416C>A) c.706+1416C>A (n.706+1416C>A) c.671-2296C>A (n.671-2296C>A) c.*1986C>A (n.*1986C>A) c.787+1416C>A (n.787+1416C>A) c.409+1416C>A (n.409+1416C>A) c.412+1416C>A (n.412+1416C>A) c.5-29377C>A (n.5-29377C>A) c.-43-18807C>A (n.-43-18807C>A) c.-99+31943C>A (n.-99+31943C>A) n.2339C>A n.2380C>A | dbSNP |
| 17 | g.43093328_43093329delinsGT | CA2260783837 | BRCA1 | n.2266_2267delinsAC c.2202_2203delinsAC (p.Lys734=) c.2076_2077delinsAC (p.Lys692=) c.2199_2200delinsAC (p.Lys733=) c.2124_2125delinsAC (p.Lys708=) c.784+1415_784+1416delinsAC (n.784+1415_784+1416delinsAC) c.646+1415_646+1416delinsAC (n.646+1415_646+1416delinsAC) c.1314_1315delinsAC (p.Lys438=) c.2079_2080delinsAC (p.Lys693=) c.2061_2062delinsAC (p.Lys687=) c.664+1415_664+1416delinsAC (n.664+1415_664+1416delinsAC) c.706+1415_706+1416delinsAC (n.706+1415_706+1416delinsAC) c.671-2297_671-2296delinsAC (n.671-2297_671-2296delinsAC) c.*1985_*1986delinsAC (n.*1985_*1986delinsAC) c.787+1415_787+1416delinsAC (n.787+1415_787+1416delinsAC) c.409+1415_409+1416delinsAC (n.409+1415_409+1416delinsAC) c.412+1415_412+1416delinsAC (n.412+1415_412+1416delinsAC) c.5-29378_5-29377delinsAC (n.5-29378_5-29377delinsAC) c.-43-18808_-43-18807delinsAC (n.-43-18808_-43-18807delinsAC) c.-99+31942_-99+31943delinsAC (n.-99+31942_-99+31943delinsAC) n.2338_2339delinsAC n.2379_2380delinsAC | |
| 17 | g.43093329T>A | CA10597592 | BRCA1 | n.2266A>T c.2202A>T (p.Lys734Asn) c.2076A>T (p.Lys692Asn) c.2199A>T (p.Lys733Asn) c.2124A>T (p.Lys708Asn) c.784+1415A>T (n.784+1415A>T) c.646+1415A>T (n.646+1415A>T) c.1314A>T (p.Lys438Asn) c.2079A>T (p.Lys693Asn) c.2061A>T (p.Lys687Asn) c.664+1415A>T (n.664+1415A>T) c.706+1415A>T (n.706+1415A>T) c.671-2297A>T (n.671-2297A>T) c.*1985A>T (n.*1985A>T) c.787+1415A>T (n.787+1415A>T) c.409+1415A>T (n.409+1415A>T) c.412+1415A>T (n.412+1415A>T) c.5-29378A>T (n.5-29378A>T) c.-43-18808A>T (n.-43-18808A>T) c.-99+31942A>T (n.-99+31942A>T) n.2338A>T n.2379A>T | dbSNP |
| 17 | g.43093329T>C | CA500233242 | BRCA1 | n.2266A>G c.2202A>G (p.Lys734=) c.2076A>G (p.Lys692=) c.2199A>G (p.Lys733=) c.2124A>G (p.Lys708=) c.784+1415A>G (n.784+1415A>G) c.646+1415A>G (n.646+1415A>G) c.1314A>G (p.Lys438=) c.2079A>G (p.Lys693=) c.2061A>G (p.Lys687=) c.664+1415A>G (n.664+1415A>G) c.706+1415A>G (n.706+1415A>G) c.671-2297A>G (n.671-2297A>G) c.*1985A>G (n.*1985A>G) c.787+1415A>G (n.787+1415A>G) c.409+1415A>G (n.409+1415A>G) c.412+1415A>G (n.412+1415A>G) c.5-29378A>G (n.5-29378A>G) c.-43-18808A>G (n.-43-18808A>G) c.-99+31942A>G (n.-99+31942A>G) n.2338A>G n.2379A>G | dbSNP |
| 17 | g.43093329T>G | CA10597593 | BRCA1 | n.2266A>C c.2202A>C (p.Lys734Asn) c.2076A>C (p.Lys692Asn) c.2199A>C (p.Lys733Asn) c.2124A>C (p.Lys708Asn) c.784+1415A>C (n.784+1415A>C) c.646+1415A>C (n.646+1415A>C) c.1314A>C (p.Lys438Asn) c.2079A>C (p.Lys693Asn) c.2061A>C (p.Lys687Asn) c.664+1415A>C (n.664+1415A>C) c.706+1415A>C (n.706+1415A>C) c.671-2297A>C (n.671-2297A>C) c.*1985A>C (n.*1985A>C) c.787+1415A>C (n.787+1415A>C) c.409+1415A>C (n.409+1415A>C) c.412+1415A>C (n.412+1415A>C) c.5-29378A>C (n.5-29378A>C) c.-43-18808A>C (n.-43-18808A>C) c.-99+31942A>C (n.-99+31942A>C) n.2338A>C n.2379A>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43093329T= | CA2260783840 | BRCA1 | n.2266A= c.2202A= (p.Lys734=) c.2076A= (p.Lys692=) c.2199A= (p.Lys733=) c.2124A= (p.Lys708=) c.784+1415A= (n.784+1415A=) c.646+1415A= (n.646+1415A=) c.1314A= (p.Lys438=) c.2079A= (p.Lys693=) c.2061A= (p.Lys687=) c.664+1415A= (n.664+1415A=) c.706+1415A= (n.706+1415A=) c.671-2297A= (n.671-2297A=) c.*1985A= (n.*1985A=) c.787+1415A= (n.787+1415A=) c.409+1415A= (n.409+1415A=) c.412+1415A= (n.412+1415A=) c.5-29378A= (n.5-29378A=) c.-43-18808A= (n.-43-18808A=) c.-99+31942A= (n.-99+31942A=) n.2338A= n.2379A= | |
| 17 | g.43093331dup | CA10589876 | BRCA1 | n.2266dup c.2202dup (p.Leu735ThrfsTer5) c.2076dup (p.Leu693ThrfsTer5) c.2199dup (p.Leu734ThrfsTer5) c.2124dup (p.Leu709ThrfsTer5) c.784+1415dup (n.784+1415dup) c.646+1415dup (n.646+1415dup) c.1314dup (p.Leu439ThrfsTer5) c.2079dup (p.Leu694ThrfsTer5) c.2061dup (p.Leu688ThrfsTer5) c.664+1415dup (n.664+1415dup) c.706+1415dup (n.706+1415dup) c.671-2297dup (n.671-2297dup) c.*1985dup (n.*1985dup) c.787+1415dup (n.787+1415dup) c.409+1415dup (n.409+1415dup) c.412+1415dup (n.412+1415dup) c.5-29378dup (n.5-29378dup) c.-43-18808dup (n.-43-18808dup) c.-99+31942dup (n.-99+31942dup) n.2338dup n.2379dup | ClinVar dbSNP |
| 17 | g.43093331del | CA001471 | BRCA1 | n.2266del c.2202del (p.Lys734AsnfsTer2) c.2076del (p.Lys692AsnfsTer2) c.2199del (p.Lys733AsnfsTer2) c.2124del (p.Lys708AsnfsTer2) c.784+1415del (n.784+1415del) c.646+1415del (n.646+1415del) c.1314del (p.Lys438AsnfsTer2) c.2079del (p.Lys693AsnfsTer2) c.2061del (p.Lys687AsnfsTer2) c.664+1415del (n.664+1415del) c.706+1415del (n.706+1415del) c.671-2297del (n.671-2297del) c.*1985del (n.*1985del) c.787+1415del (n.787+1415del) c.409+1415del (n.409+1415del) c.412+1415del (n.412+1415del) c.5-29378del (n.5-29378del) c.-43-18808del (n.-43-18808del) c.-99+31942del (n.-99+31942del) n.2338del n.2379del | ClinVar dbSNP |
| 17 | g.43093329_43093334delinsTTTCTC | CA2260783839 | BRCA1 | n.2261_2266delinsGAGAAA c.2197_2202delinsGAGAAA (p.Glu733=) c.2071_2076delinsGAGAAA (p.Glu691=) c.2194_2199delinsGAGAAA (p.Glu732=) c.2119_2124delinsGAGAAA (p.Glu707=) c.784+1410_784+1415delinsGAGAAA (n.784+1410_784+1415delinsGAGAAA) c.646+1410_646+1415delinsGAGAAA (n.646+1410_646+1415delinsGAGAAA) c.1309_1314delinsGAGAAA (p.Glu437=) c.2074_2079delinsGAGAAA (p.Glu692=) c.2056_2061delinsGAGAAA (p.Glu686=) c.664+1410_664+1415delinsGAGAAA (n.664+1410_664+1415delinsGAGAAA) c.706+1410_706+1415delinsGAGAAA (n.706+1410_706+1415delinsGAGAAA) c.671-2302_671-2297delinsGAGAAA (n.671-2302_671-2297delinsGAGAAA) c.*1980_*1985delinsGAGAAA (n.*1980_*1985delinsGAGAAA) c.787+1410_787+1415delinsGAGAAA (n.787+1410_787+1415delinsGAGAAA) c.409+1410_409+1415delinsGAGAAA (n.409+1410_409+1415delinsGAGAAA) c.412+1410_412+1415delinsGAGAAA (n.412+1410_412+1415delinsGAGAAA) c.5-29383_5-29378delinsGAGAAA (n.5-29383_5-29378delinsGAGAAA) c.-43-18813_-43-18808delinsGAGAAA (n.-43-18813_-43-18808delinsGAGAAA) c.-99+31937_-99+31942delinsGAGAAA (n.-99+31937_-99+31942delinsGAGAAA) n.2333_2338delinsGAGAAA n.2374_2379delinsGAGAAA | |
| 17 | g.43093329_43093343delinsTTTCTCTTCTTTTTC | CA2260783841 | BRCA1 | n.2252_2266delinsGAAAAAGAAGAGAAA c.2188_2202delinsGAAAAAGAAGAGAAA (p.Glu730=) c.2062_2076delinsGAAAAAGAAGAGAAA (p.Glu688=) c.2185_2199delinsGAAAAAGAAGAGAAA (p.Glu729=) c.2110_2124delinsGAAAAAGAAGAGAAA (p.Glu704=) c.784+1401_784+1415delinsGAAAAAGAAGAGAAA (n.784+1401_784+1415delinsGAAAAAGAAGAGAAA) c.646+1401_646+1415delinsGAAAAAGAAGAGAAA (n.646+1401_646+1415delinsGAAAAAGAAGAGAAA) c.1300_1314delinsGAAAAAGAAGAGAAA (p.Glu434=) c.2065_2079delinsGAAAAAGAAGAGAAA (p.Glu689=) c.2047_2061delinsGAAAAAGAAGAGAAA (p.Glu683=) c.664+1401_664+1415delinsGAAAAAGAAGAGAAA (n.664+1401_664+1415delinsGAAAAAGAAGAGAAA) c.706+1401_706+1415delinsGAAAAAGAAGAGAAA (n.706+1401_706+1415delinsGAAAAAGAAGAGAAA) c.671-2311_671-2297delinsGAAAAAGAAGAGAAA (n.671-2311_671-2297delinsGAAAAAGAAGAGAAA) c.*1971_*1985delinsGAAAAAGAAGAGAAA (n.*1971_*1985delinsGAAAAAGAAGAGAAA) c.787+1401_787+1415delinsGAAAAAGAAGAGAAA (n.787+1401_787+1415delinsGAAAAAGAAGAGAAA) c.409+1401_409+1415delinsGAAAAAGAAGAGAAA (n.409+1401_409+1415delinsGAAAAAGAAGAGAAA) c.412+1401_412+1415delinsGAAAAAGAAGAGAAA (n.412+1401_412+1415delinsGAAAAAGAAGAGAAA) c.5-29392_5-29378delinsGAAAAAGAAGAGAAA (n.5-29392_5-29378delinsGAAAAAGAAGAGAAA) c.-43-18822_-43-18808delinsGAAAAAGAAGAGAAA (n.-43-18822_-43-18808delinsGAAAAAGAAGAGAAA) c.-99+31928_-99+31942delinsGAAAAAGAAGAGAAA (n.-99+31928_-99+31942delinsGAAAAAGAAGAGAAA) n.2324_2338delinsGAAAAAGAAGAGAAA n.2365_2379delinsGAAAAAGAAGAGAAA | |
| 17 | g.43093330T>A | CA10597594 | BRCA1 | n.2265A>T c.2201A>T (p.Lys734Ile) c.2075A>T (p.Lys692Ile) c.2198A>T (p.Lys733Ile) c.2123A>T (p.Lys708Ile) c.784+1414A>T (n.784+1414A>T) c.646+1414A>T (n.646+1414A>T) c.1313A>T (p.Lys438Ile) c.2078A>T (p.Lys693Ile) c.2060A>T (p.Lys687Ile) c.664+1414A>T (n.664+1414A>T) c.706+1414A>T (n.706+1414A>T) c.671-2298A>T (n.671-2298A>T) c.*1984A>T (n.*1984A>T) c.787+1414A>T (n.787+1414A>T) c.409+1414A>T (n.409+1414A>T) c.412+1414A>T (n.412+1414A>T) c.5-29379A>T (n.5-29379A>T) c.-43-18809A>T (n.-43-18809A>T) c.-99+31941A>T (n.-99+31941A>T) n.2337A>T n.2378A>T | dbSNP |
| 17 | g.43093330T>C | CA10597595 | BRCA1 | n.2265A>G c.2201A>G (p.Lys734Arg) c.2075A>G (p.Lys692Arg) c.2198A>G (p.Lys733Arg) c.2123A>G (p.Lys708Arg) c.784+1414A>G (n.784+1414A>G) c.646+1414A>G (n.646+1414A>G) c.1313A>G (p.Lys438Arg) c.2078A>G (p.Lys693Arg) c.2060A>G (p.Lys687Arg) c.664+1414A>G (n.664+1414A>G) c.706+1414A>G (n.706+1414A>G) c.671-2298A>G (n.671-2298A>G) c.*1984A>G (n.*1984A>G) c.787+1414A>G (n.787+1414A>G) c.409+1414A>G (n.409+1414A>G) c.412+1414A>G (n.412+1414A>G) c.5-29379A>G (n.5-29379A>G) c.-43-18809A>G (n.-43-18809A>G) c.-99+31941A>G (n.-99+31941A>G) n.2337A>G n.2378A>G | dbSNP |
| 17 | g.43093330T>G | CA10597596 | BRCA1 | n.2265A>C c.2201A>C (p.Lys734Thr) c.2075A>C (p.Lys692Thr) c.2198A>C (p.Lys733Thr) c.2123A>C (p.Lys708Thr) c.784+1414A>C (n.784+1414A>C) c.646+1414A>C (n.646+1414A>C) c.1313A>C (p.Lys438Thr) c.2078A>C (p.Lys693Thr) c.2060A>C (p.Lys687Thr) c.664+1414A>C (n.664+1414A>C) c.706+1414A>C (n.706+1414A>C) c.671-2298A>C (n.671-2298A>C) c.*1984A>C (n.*1984A>C) c.787+1414A>C (n.787+1414A>C) c.409+1414A>C (n.409+1414A>C) c.412+1414A>C (n.412+1414A>C) c.5-29379A>C (n.5-29379A>C) c.-43-18809A>C (n.-43-18809A>C) c.-99+31941A>C (n.-99+31941A>C) n.2337A>C n.2378A>C | dbSNP |
| 17 | g.43093330T= | CA2260783842 | BRCA1 | n.2265A= c.2201A= (p.Lys734=) c.2075A= (p.Lys692=) c.2198A= (p.Lys733=) c.2123A= (p.Lys708=) c.784+1414A= (n.784+1414A=) c.646+1414A= (n.646+1414A=) c.1313A= (p.Lys438=) c.2078A= (p.Lys693=) c.2060A= (p.Lys687=) c.664+1414A= (n.664+1414A=) c.706+1414A= (n.706+1414A=) c.671-2298A= (n.671-2298A=) c.*1984A= (n.*1984A=) c.787+1414A= (n.787+1414A=) c.409+1414A= (n.409+1414A=) c.412+1414A= (n.412+1414A=) c.5-29379A= (n.5-29379A=) c.-43-18809A= (n.-43-18809A=) c.-99+31941A= (n.-99+31941A=) n.2337A= n.2378A= | |
| 17 | g.43093334_43093338del | CA001467 | BRCA1 | n.2261_2265del c.2197_2201del (p.Glu733ThrfsTer5) c.2071_2075del (p.Glu691ThrfsTer5) c.2194_2198del (p.Glu732ThrfsTer5) c.2119_2123del (p.Glu707ThrfsTer5) c.784+1410_784+1414del (n.784+1410_784+1414del) c.646+1410_646+1414del (n.646+1410_646+1414del) c.1309_1313del (p.Glu437ThrfsTer5) c.2074_2078del (p.Glu692ThrfsTer5) c.2056_2060del (p.Glu686ThrfsTer5) c.664+1410_664+1414del (n.664+1410_664+1414del) c.706+1410_706+1414del (n.706+1410_706+1414del) c.671-2302_671-2298del (n.671-2302_671-2298del) c.*1980_*1984del (n.*1980_*1984del) c.787+1410_787+1414del (n.787+1410_787+1414del) c.409+1410_409+1414del (n.409+1410_409+1414del) c.412+1410_412+1414del (n.412+1410_412+1414del) c.5-29383_5-29379del (n.5-29383_5-29379del) c.-43-18813_-43-18809del (n.-43-18813_-43-18809del) c.-99+31937_-99+31941del (n.-99+31937_-99+31941del) n.2333_2337del n.2374_2378del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.43093337_43093350del | CA001460 | BRCA1 | n.2252_2265del c.2188_2201del (p.Glu730ThrfsTer5) c.2062_2075del (p.Glu688ThrfsTer5) c.2185_2198del (p.Glu729ThrfsTer5) c.2110_2123del (p.Glu704ThrfsTer5) c.784+1401_784+1414del (n.784+1401_784+1414del) c.646+1401_646+1414del (n.646+1401_646+1414del) c.1300_1313del (p.Glu434ThrfsTer5) c.2065_2078del (p.Glu689ThrfsTer5) c.2047_2060del (p.Glu683ThrfsTer5) c.664+1401_664+1414del (n.664+1401_664+1414del) c.706+1401_706+1414del (n.706+1401_706+1414del) c.671-2311_671-2298del (n.671-2311_671-2298del) c.*1971_*1984del (n.*1971_*1984del) c.787+1401_787+1414del (n.787+1401_787+1414del) c.409+1401_409+1414del (n.409+1401_409+1414del) c.412+1401_412+1414del (n.412+1401_412+1414del) c.5-29392_5-29379del (n.5-29392_5-29379del) c.-43-18822_-43-18809del (n.-43-18822_-43-18809del) c.-99+31928_-99+31941del (n.-99+31928_-99+31941del) n.2324_2337del n.2365_2378del | ClinVar dbSNP |
| 17 | g.43093331T>A | CA10597597 | BRCA1 | n.2264A>T c.2200A>T (p.Lys734Ter) c.2074A>T (p.Lys692Ter) c.2197A>T (p.Lys733Ter) c.2122A>T (p.Lys708Ter) c.784+1413A>T (n.784+1413A>T) c.646+1413A>T (n.646+1413A>T) c.1312A>T (p.Lys438Ter) c.2077A>T (p.Lys693Ter) c.2059A>T (p.Lys687Ter) c.664+1413A>T (n.664+1413A>T) c.706+1413A>T (n.706+1413A>T) c.671-2299A>T (n.671-2299A>T) c.*1983A>T (n.*1983A>T) c.787+1413A>T (n.787+1413A>T) c.409+1413A>T (n.409+1413A>T) c.412+1413A>T (n.412+1413A>T) c.5-29380A>T (n.5-29380A>T) c.-43-18810A>T (n.-43-18810A>T) c.-99+31940A>T (n.-99+31940A>T) n.2336A>T n.2377A>T | dbSNP |
| 17 | g.43093331T>C | CA10597598 | BRCA1 | n.2264A>G c.2200A>G (p.Lys734Glu) c.2074A>G (p.Lys692Glu) c.2197A>G (p.Lys733Glu) c.2122A>G (p.Lys708Glu) c.784+1413A>G (n.784+1413A>G) c.646+1413A>G (n.646+1413A>G) c.1312A>G (p.Lys438Glu) c.2077A>G (p.Lys693Glu) c.2059A>G (p.Lys687Glu) c.664+1413A>G (n.664+1413A>G) c.706+1413A>G (n.706+1413A>G) c.671-2299A>G (n.671-2299A>G) c.*1983A>G (n.*1983A>G) c.787+1413A>G (n.787+1413A>G) c.409+1413A>G (n.409+1413A>G) c.412+1413A>G (n.412+1413A>G) c.5-29380A>G (n.5-29380A>G) c.-43-18810A>G (n.-43-18810A>G) c.-99+31940A>G (n.-99+31940A>G) n.2336A>G n.2377A>G | ClinVar dbSNP |
| 17 | g.43093331T>G | CA10597599 | BRCA1 | n.2264A>C c.2200A>C (p.Lys734Gln) c.2074A>C (p.Lys692Gln) c.2197A>C (p.Lys733Gln) c.2122A>C (p.Lys708Gln) c.784+1413A>C (n.784+1413A>C) c.646+1413A>C (n.646+1413A>C) c.1312A>C (p.Lys438Gln) c.2077A>C (p.Lys693Gln) c.2059A>C (p.Lys687Gln) c.664+1413A>C (n.664+1413A>C) c.706+1413A>C (n.706+1413A>C) c.671-2299A>C (n.671-2299A>C) c.*1983A>C (n.*1983A>C) c.787+1413A>C (n.787+1413A>C) c.409+1413A>C (n.409+1413A>C) c.412+1413A>C (n.412+1413A>C) c.5-29380A>C (n.5-29380A>C) c.-43-18810A>C (n.-43-18810A>C) c.-99+31940A>C (n.-99+31940A>C) n.2336A>C n.2377A>C | |
| 17 | g.43093331T= | CA2260783844 | BRCA1 | n.2264A= c.2200A= (p.Lys734=) c.2074A= (p.Lys692=) c.2197A= (p.Lys733=) c.2122A= (p.Lys708=) c.784+1413A= (n.784+1413A=) c.646+1413A= (n.646+1413A=) c.1312A= (p.Lys438=) c.2077A= (p.Lys693=) c.2059A= (p.Lys687=) c.664+1413A= (n.664+1413A=) c.706+1413A= (n.706+1413A=) c.671-2299A= (n.671-2299A=) c.*1983A= (n.*1983A=) c.787+1413A= (n.787+1413A=) c.409+1413A= (n.409+1413A=) c.412+1413A= (n.412+1413A=) c.5-29380A= (n.5-29380A=) c.-43-18810A= (n.-43-18810A=) c.-99+31940A= (n.-99+31940A=) n.2336A= n.2377A= | |
| 17 | g.43093331_43093332delinsTC | CA2260783843 | BRCA1 | n.2263_2264delinsGA c.2199_2200delinsGA (p.Glu733=) c.2073_2074delinsGA (p.Glu691=) c.2196_2197delinsGA (p.Glu732=) c.2121_2122delinsGA (p.Glu707=) c.784+1412_784+1413delinsGA (n.784+1412_784+1413delinsGA) c.646+1412_646+1413delinsGA (n.646+1412_646+1413delinsGA) c.1311_1312delinsGA (p.Glu437=) c.2076_2077delinsGA (p.Glu692=) c.2058_2059delinsGA (p.Glu686=) c.664+1412_664+1413delinsGA (n.664+1412_664+1413delinsGA) c.706+1412_706+1413delinsGA (n.706+1412_706+1413delinsGA) c.671-2300_671-2299delinsGA (n.671-2300_671-2299delinsGA) c.*1982_*1983delinsGA (n.*1982_*1983delinsGA) c.787+1412_787+1413delinsGA (n.787+1412_787+1413delinsGA) c.409+1412_409+1413delinsGA (n.409+1412_409+1413delinsGA) c.412+1412_412+1413delinsGA (n.412+1412_412+1413delinsGA) c.5-29381_5-29380delinsGA (n.5-29381_5-29380delinsGA) c.-43-18811_-43-18810delinsGA (n.-43-18811_-43-18810delinsGA) c.-99+31939_-99+31940delinsGA (n.-99+31939_-99+31940delinsGA) n.2335_2336delinsGA n.2376_2377delinsGA | |
| 17 | g.43093332_43093335del | CA2695201346 | BRCA1 | n.2261_2264del c.2197_2200del (p.Glu733AsnfsTer2) c.2071_2074del (p.Glu691AsnfsTer2) c.2194_2197del (p.Glu732AsnfsTer2) c.2119_2122del (p.Glu707AsnfsTer2) c.784+1410_784+1413del (n.784+1410_784+1413del) c.646+1410_646+1413del (n.646+1410_646+1413del) c.1309_1312del (p.Glu437AsnfsTer2) c.2074_2077del (p.Glu692AsnfsTer2) c.2056_2059del (p.Glu686AsnfsTer2) c.664+1410_664+1413del (n.664+1410_664+1413del) c.706+1410_706+1413del (n.706+1410_706+1413del) c.671-2302_671-2299del (n.671-2302_671-2299del) c.*1980_*1983del (n.*1980_*1983del) c.787+1410_787+1413del (n.787+1410_787+1413del) c.409+1410_409+1413del (n.409+1410_409+1413del) c.412+1410_412+1413del (n.412+1410_412+1413del) c.5-29383_5-29380del (n.5-29383_5-29380del) c.-43-18813_-43-18810del (n.-43-18813_-43-18810del) c.-99+31937_-99+31940del (n.-99+31937_-99+31940del) n.2333_2336del n.2374_2377del | ClinVar |
| 17 | g.43093332del | CA001469 | BRCA1 | n.2263del c.2199del (p.Lys734AsnfsTer2) c.2073del (p.Lys692AsnfsTer2) c.2196del (p.Lys733AsnfsTer2) c.2121del (p.Lys708AsnfsTer2) c.784+1412del (n.784+1412del) c.646+1412del (n.646+1412del) c.1311del (p.Lys438AsnfsTer2) c.2076del (p.Lys693AsnfsTer2) c.2058del (p.Lys687AsnfsTer2) c.664+1412del (n.664+1412del) c.706+1412del (n.706+1412del) c.671-2300del (n.671-2300del) c.*1982del (n.*1982del) c.787+1412del (n.787+1412del) c.409+1412del (n.409+1412del) c.412+1412del (n.412+1412del) c.5-29381del (n.5-29381del) c.-43-18811del (n.-43-18811del) c.-99+31939del (n.-99+31939del) n.2335del n.2376del | ClinVar dbSNP |
| 17 | g.43093332C>A | CA10597600 | BRCA1 | n.2263G>T c.2199G>T (p.Glu733Asp) c.2073G>T (p.Glu691Asp) c.2196G>T (p.Glu732Asp) c.2121G>T (p.Glu707Asp) c.784+1412G>T (n.784+1412G>T) c.646+1412G>T (n.646+1412G>T) c.1311G>T (p.Glu437Asp) c.2076G>T (p.Glu692Asp) c.2058G>T (p.Glu686Asp) c.664+1412G>T (n.664+1412G>T) c.706+1412G>T (n.706+1412G>T) c.671-2300G>T (n.671-2300G>T) c.*1982G>T (n.*1982G>T) c.787+1412G>T (n.787+1412G>T) c.409+1412G>T (n.409+1412G>T) c.412+1412G>T (n.412+1412G>T) c.5-29381G>T (n.5-29381G>T) c.-43-18811G>T (n.-43-18811G>T) c.-99+31939G>T (n.-99+31939G>T) n.2335G>T n.2376G>T | dbSNP |
| 17 | g.43093332C= | CA2260783845 | BRCA1 | n.2263G= c.2199G= (p.Glu733=) c.2073G= (p.Glu691=) c.2196G= (p.Glu732=) c.2121G= (p.Glu707=) c.784+1412G= (n.784+1412G=) c.646+1412G= (n.646+1412G=) c.1311G= (p.Glu437=) c.2076G= (p.Glu692=) c.2058G= (p.Glu686=) c.664+1412G= (n.664+1412G=) c.706+1412G= (n.706+1412G=) c.671-2300G= (n.671-2300G=) c.*1982G= (n.*1982G=) c.787+1412G= (n.787+1412G=) c.409+1412G= (n.409+1412G=) c.412+1412G= (n.412+1412G=) c.5-29381G= (n.5-29381G=) c.-43-18811G= (n.-43-18811G=) c.-99+31939G= (n.-99+31939G=) n.2335G= n.2376G= | |
| 17 | g.43093332C>G | CA10597601 | BRCA1 | n.2263G>C c.2199G>C (p.Glu733Asp) c.2073G>C (p.Glu691Asp) c.2196G>C (p.Glu732Asp) c.2121G>C (p.Glu707Asp) c.784+1412G>C (n.784+1412G>C) c.646+1412G>C (n.646+1412G>C) c.1311G>C (p.Glu437Asp) c.2076G>C (p.Glu692Asp) c.2058G>C (p.Glu686Asp) c.664+1412G>C (n.664+1412G>C) c.706+1412G>C (n.706+1412G>C) c.671-2300G>C (n.671-2300G>C) c.*1982G>C (n.*1982G>C) c.787+1412G>C (n.787+1412G>C) c.409+1412G>C (n.409+1412G>C) c.412+1412G>C (n.412+1412G>C) c.5-29381G>C (n.5-29381G>C) c.-43-18811G>C (n.-43-18811G>C) c.-99+31939G>C (n.-99+31939G>C) n.2335G>C n.2376G>C | dbSNP |
| 17 | g.43093332C>T | CA500233243 | BRCA1 | n.2263G>A c.2199G>A (p.Glu733=) c.2073G>A (p.Glu691=) c.2196G>A (p.Glu732=) c.2121G>A (p.Glu707=) c.784+1412G>A (n.784+1412G>A) c.646+1412G>A (n.646+1412G>A) c.1311G>A (p.Glu437=) c.2076G>A (p.Glu692=) c.2058G>A (p.Glu686=) c.664+1412G>A (n.664+1412G>A) c.706+1412G>A (n.706+1412G>A) c.671-2300G>A (n.671-2300G>A) c.*1982G>A (n.*1982G>A) c.787+1412G>A (n.787+1412G>A) c.409+1412G>A (n.409+1412G>A) c.412+1412G>A (n.412+1412G>A) c.5-29381G>A (n.5-29381G>A) c.-43-18811G>A (n.-43-18811G>A) c.-99+31939G>A (n.-99+31939G>A) n.2335G>A n.2376G>A | ClinVar dbSNP |
| 17 | g.43093332_43093335delinsCTCT | CA2260783846 | BRCA1 | n.2260_2263delinsAGAG c.2196_2199delinsAGAG (p.Glu732=) c.2070_2073delinsAGAG (p.Glu690=) c.2193_2196delinsAGAG (p.Glu731=) c.2118_2121delinsAGAG (p.Glu706=) c.784+1409_784+1412delinsAGAG (n.784+1409_784+1412delinsAGAG) c.646+1409_646+1412delinsAGAG (n.646+1409_646+1412delinsAGAG) c.1308_1311delinsAGAG (p.Glu436=) c.2073_2076delinsAGAG (p.Glu691=) c.2055_2058delinsAGAG (p.Glu685=) c.664+1409_664+1412delinsAGAG (n.664+1409_664+1412delinsAGAG) c.706+1409_706+1412delinsAGAG (n.706+1409_706+1412delinsAGAG) c.671-2303_671-2300delinsAGAG (n.671-2303_671-2300delinsAGAG) c.*1979_*1982delinsAGAG (n.*1979_*1982delinsAGAG) c.787+1409_787+1412delinsAGAG (n.787+1409_787+1412delinsAGAG) c.409+1409_409+1412delinsAGAG (n.409+1409_409+1412delinsAGAG) c.412+1409_412+1412delinsAGAG (n.412+1409_412+1412delinsAGAG) c.5-29384_5-29381delinsAGAG (n.5-29384_5-29381delinsAGAG) c.-43-18814_-43-18811delinsAGAG (n.-43-18814_-43-18811delinsAGAG) c.-99+31936_-99+31939delinsAGAG (n.-99+31936_-99+31939delinsAGAG) n.2332_2335delinsAGAG n.2373_2376delinsAGAG | |
| 17 | g.43093333T>A | CA10597602 | BRCA1 | n.2262A>T c.2198A>T (p.Glu733Val) c.2072A>T (p.Glu691Val) c.2195A>T (p.Glu732Val) c.2120A>T (p.Glu707Val) c.784+1411A>T (n.784+1411A>T) c.646+1411A>T (n.646+1411A>T) c.1310A>T (p.Glu437Val) c.2075A>T (p.Glu692Val) c.2057A>T (p.Glu686Val) c.664+1411A>T (n.664+1411A>T) c.706+1411A>T (n.706+1411A>T) c.671-2301A>T (n.671-2301A>T) c.*1981A>T (n.*1981A>T) c.787+1411A>T (n.787+1411A>T) c.409+1411A>T (n.409+1411A>T) c.412+1411A>T (n.412+1411A>T) c.5-29382A>T (n.5-29382A>T) c.-43-18812A>T (n.-43-18812A>T) c.-99+31938A>T (n.-99+31938A>T) n.2334A>T n.2375A>T | dbSNP |
| 17 | g.43093333T>C | CA10597603 | BRCA1 | n.2262A>G c.2198A>G (p.Glu733Gly) c.2072A>G (p.Glu691Gly) c.2195A>G (p.Glu732Gly) c.2120A>G (p.Glu707Gly) c.784+1411A>G (n.784+1411A>G) c.646+1411A>G (n.646+1411A>G) c.1310A>G (p.Glu437Gly) c.2075A>G (p.Glu692Gly) c.2057A>G (p.Glu686Gly) c.664+1411A>G (n.664+1411A>G) c.706+1411A>G (n.706+1411A>G) c.671-2301A>G (n.671-2301A>G) c.*1981A>G (n.*1981A>G) c.787+1411A>G (n.787+1411A>G) c.409+1411A>G (n.409+1411A>G) c.412+1411A>G (n.412+1411A>G) c.5-29382A>G (n.5-29382A>G) c.-43-18812A>G (n.-43-18812A>G) c.-99+31938A>G (n.-99+31938A>G) n.2334A>G n.2375A>G | dbSNP |
| 17 | g.43093333T>G | CA10597604 | BRCA1 | n.2262A>C c.2198A>C (p.Glu733Ala) c.2072A>C (p.Glu691Ala) c.2195A>C (p.Glu732Ala) c.2120A>C (p.Glu707Ala) c.784+1411A>C (n.784+1411A>C) c.646+1411A>C (n.646+1411A>C) c.1310A>C (p.Glu437Ala) c.2075A>C (p.Glu692Ala) c.2057A>C (p.Glu686Ala) c.664+1411A>C (n.664+1411A>C) c.706+1411A>C (n.706+1411A>C) c.671-2301A>C (n.671-2301A>C) c.*1981A>C (n.*1981A>C) c.787+1411A>C (n.787+1411A>C) c.409+1411A>C (n.409+1411A>C) c.412+1411A>C (n.412+1411A>C) c.5-29382A>C (n.5-29382A>C) c.-43-18812A>C (n.-43-18812A>C) c.-99+31938A>C (n.-99+31938A>C) n.2334A>C n.2375A>C | dbSNP |
| 17 | g.43093333T= | CA2260783847 | BRCA1 | n.2262A= c.2198A= (p.Glu733=) c.2072A= (p.Glu691=) c.2195A= (p.Glu732=) c.2120A= (p.Glu707=) c.784+1411A= (n.784+1411A=) c.646+1411A= (n.646+1411A=) c.1310A= (p.Glu437=) c.2075A= (p.Glu692=) c.2057A= (p.Glu686=) c.664+1411A= (n.664+1411A=) c.706+1411A= (n.706+1411A=) c.671-2301A= (n.671-2301A=) c.*1981A= (n.*1981A=) c.787+1411A= (n.787+1411A=) c.409+1411A= (n.409+1411A=) c.412+1411A= (n.412+1411A=) c.5-29382A= (n.5-29382A=) c.-43-18812A= (n.-43-18812A=) c.-99+31938A= (n.-99+31938A=) n.2334A= n.2375A= | |
| 17 | g.43093333dup | CA10589877 | BRCA1 | n.2262dup c.2198dup (p.Lys734GlufsTer6) c.2072dup (p.Lys692GlufsTer6) c.2195dup (p.Lys733GlufsTer6) c.2120dup (p.Lys708GlufsTer6) c.784+1411dup (n.784+1411dup) c.646+1411dup (n.646+1411dup) c.1310dup (p.Lys438GlufsTer6) c.2075dup (p.Lys693GlufsTer6) c.2057dup (p.Lys687GlufsTer6) c.664+1411dup (n.664+1411dup) c.706+1411dup (n.706+1411dup) c.671-2301dup (n.671-2301dup) c.*1981dup (n.*1981dup) c.787+1411dup (n.787+1411dup) c.409+1411dup (n.409+1411dup) c.412+1411dup (n.412+1411dup) c.5-29382dup (n.5-29382dup) c.-43-18812dup (n.-43-18812dup) c.-99+31938dup (n.-99+31938dup) n.2334dup n.2375dup | ClinVar dbSNP |
| 17 | g.43093337_43093339del | CA626221304 | BRCA1 | n.2260_2262del c.2196_2198del (p.Glu733del) c.2070_2072del (p.Glu691del) c.2193_2195del (p.Glu732del) c.2118_2120del (p.Glu707del) c.784+1409_784+1411del (n.784+1409_784+1411del) c.646+1409_646+1411del (n.646+1409_646+1411del) c.1308_1310del (p.Glu437del) c.2073_2075del (p.Glu692del) c.2055_2057del (p.Glu686del) c.664+1409_664+1411del (n.664+1409_664+1411del) c.706+1409_706+1411del (n.706+1409_706+1411del) c.671-2303_671-2301del (n.671-2303_671-2301del) c.*1979_*1981del (n.*1979_*1981del) c.787+1409_787+1411del (n.787+1409_787+1411del) c.409+1409_409+1411del (n.409+1409_409+1411del) c.412+1409_412+1411del (n.412+1409_412+1411del) c.5-29384_5-29382del (n.5-29384_5-29382del) c.-43-18814_-43-18812del (n.-43-18814_-43-18812del) c.-99+31936_-99+31938del (n.-99+31936_-99+31938del) n.2332_2334del n.2373_2375del | ClinVar dbSNP gnomAD v2 gnomAD v4 |