| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43063357_43067682dup | CA1139532339 | BRCA1 | c.5001_5170dup c.5064_5233dup n.1388_1557dup c.1575_1744dup c.*4784_*4953dup c.1689_1858dup n.1314_1483dup c.4860_5029dup c.5-3730_100dup c.474_643dup c.-98-17491_-98-13166dup (p.=) n.5137_5306dup n.5178_5347dup | |
| 17 | g.43063872_43069026del | CA2499224378 | BRCA1 | c.4987-1331_5152+2del c.5050-1331_5215+2del n.1374-1331_1539+2del c.1561-1331_1726+2del c.*4770-1331_*4935+2del c.1675-1331_1840+2del n.1300-1331_1465+2del c.4846-1331_5011+2del c.1537-1331_1702+2del c.5-5075_82+2del c.460-1331_625+2del c.-98-18836_-98-13682del (p.=) n.5123-1331_5288+2del n.5164-1331_5329+2del | ClinVar |
| 17 | g.43063955_43071241del | CA10575957 | BRCA1 | c.4677_5075del c.4740_5138del n.1064_1462del c.1251_1649del c.*4460_*4858del c.1365_1763del n.990_1388del c.4536_4934del c.1227_1625del c.5-7286_5del c.150_548del c.-98-21047_-98-13761del (p.=) n.4813_5211del n.4854_5252del | ClinVar |
| 17 | g.43064932_43070036del | CA10602581 | BRCA1 | c.4986+892_5075-981del c.5049+892_5138-981del n.1373+892_1462-981del c.1560+892_1649-981del c.*4769+892_*4858-981del c.1674+892_1763-981del n.1299+892_1388-981del c.4845+892_4934-981del c.1536+892_1625-981del c.5-6085_5-981del (p.=) c.459+892_548-981del c.-98-19846_-98-14742del (p.=) n.5122+892_5211-981del n.5163+892_5252-981del | ClinVar |
| 17 | g.43064935_43070038del | CA16043348 | BRCA1 | c.4986+890_5075-984del c.5049+890_5138-984del n.1373+890_1462-984del c.1560+890_1649-984del c.*4769+890_*4858-984del c.1674+890_1763-984del n.1299+890_1388-984del c.4845+890_4934-984del c.1536+890_1625-984del c.5-6087_5-984del (p.=) c.459+890_548-984del c.-98-19848_-98-14745del (p.=) n.5122+890_5211-984del n.5163+890_5252-984del | ClinVar |
| 17 | g.43066661_43072815del | CA913190336 | BRCA1 | c.4675+1532_5074+963del c.4738+1532_5137+963del n.1062+1532_1461+963del c.1249+1532_1648+963del c.*4458+1532_*4857+963del c.1363+1532_1762+963del n.988+1532_1387+963del c.4534+1532_4933+963del c.1225+1532_1624+963del c.5-8848_5-2694del (p.=) c.148+1532_547+963del c.-98-22609_-98-16455del (p.=) n.4811+1532_5210+963del n.4852+1532_5251+963del | ClinVar |
| 17 | g.43066860_43069976del | CA16043349 | BRCA1 | c.4986+955_5074+751del c.5049+955_5137+751del n.1373+955_1461+751del c.1560+955_1648+751del c.*4769+955_*4857+751del c.1674+955_1762+751del n.1299+955_1387+751del c.4845+955_4933+751del c.1536+955_1624+751del c.5-6022_5-2906del (p.=) c.459+955_547+751del c.-98-19783_-98-16667del (p.=) n.5122+955_5210+751del n.5163+955_5251+751del | ClinVar |
| 17 | g.43067263_43068276del | CA913190339 | BRCA1 | c.4987-581_5074+345del c.5050-581_5137+345del n.1374-581_1461+345del c.1561-581_1648+345del c.*4770-581_*4857+345del c.1675-581_1762+345del n.1300-581_1387+345del c.4846-581_4933+345del c.1537-581_1624+345del c.5-4325_5-3312del (p.=) c.460-581_547+345del c.-98-18086_-98-17073del (p.=) n.5123-581_5210+345del n.5164-581_5251+345del | ClinVar |
| 17 | g.43067266_43068273del | CA10602610 | BRCA1 | c.4987-577_5074+343del c.5050-577_5137+343del n.1374-577_1461+343del c.1561-577_1648+343del c.*4770-577_*4857+343del c.1675-577_1762+343del n.1300-577_1387+343del c.4846-577_4933+343del c.1537-577_1624+343del c.5-4321_5-3314del (p.=) c.460-577_547+343del c.-98-18082_-98-17075del (p.=) n.5123-577_5210+343del n.5164-577_5251+343del | ClinVar |
| 17 | g.43067508C>A | CA2260771245 | BRCA1 | c.5074+100G>T (p.=) c.5137+100G>T (p.=) n.1461+100G>T c.1648+100G>T (p.=) c.*4857+100G>T (p.=) c.1762+100G>T (p.=) n.327G>T n.1387+100G>T (p.=) c.4933+100G>T (p.=) c.1624+100G>T (p.=) c.5-3557G>T (p.=) c.547+100G>T (p.=) c.-98-17318G>T (p.=) n.5210+100G>T n.5251+100G>T | |
| 17 | g.43067508C= | CA2260771244 | BRCA1 | c.5074+100G= (p.=) c.5137+100G= (p.=) n.1461+100G= c.1648+100G= (p.=) c.*4857+100G= (p.=) c.1762+100G= (p.=) n.327G= n.1387+100G= (p.=) c.4933+100G= (p.=) c.1624+100G= (p.=) c.5-3557G= (p.=) c.547+100G= (p.=) c.-98-17318G= (p.=) n.5210+100G= n.5251+100G= | |
| 17 | g.43067510T>C | CA290827702 | BRCA1 | c.5074+98A>G (p.=) c.5137+98A>G (p.=) n.1461+98A>G c.1648+98A>G (p.=) c.*4857+98A>G (p.=) c.1762+98A>G (p.=) n.325A>G n.1387+98A>G (p.=) c.4933+98A>G (p.=) c.1624+98A>G (p.=) c.5-3559A>G (p.=) c.547+98A>G (p.=) c.-98-17320A>G (p.=) n.5210+98A>G n.5251+98A>G | dbSNP gnomAD |
| 17 | g.43067510T= | CA2260771246 | BRCA1 | c.5074+98A= (p.=) c.5137+98A= (p.=) n.1461+98A= c.1648+98A= (p.=) c.*4857+98A= (p.=) c.1762+98A= (p.=) n.325A= n.1387+98A= (p.=) c.4933+98A= (p.=) c.1624+98A= (p.=) c.5-3559A= (p.=) c.547+98A= (p.=) c.-98-17320A= (p.=) n.5210+98A= n.5251+98A= | |
| 17 | g.43067513C= | CA2260771247 | BRCA1 | c.5074+95G= (p.=) c.5137+95G= (p.=) n.1461+95G= c.1648+95G= (p.=) c.*4857+95G= (p.=) c.1762+95G= (p.=) n.322G= n.1387+95G= (p.=) c.4933+95G= (p.=) c.1624+95G= (p.=) c.5-3562G= (p.=) c.547+95G= (p.=) c.-98-17323G= (p.=) n.5210+95G= n.5251+95G= | |
| 17 | g.43067513C>T | CA290827705 | BRCA1 | c.5074+95G>A (p.=) c.5137+95G>A (p.=) n.1461+95G>A c.1648+95G>A (p.=) c.*4857+95G>A (p.=) c.1762+95G>A (p.=) n.322G>A n.1387+95G>A (p.=) c.4933+95G>A (p.=) c.1624+95G>A (p.=) c.5-3562G>A (p.=) c.547+95G>A (p.=) c.-98-17323G>A (p.=) n.5210+95G>A n.5251+95G>A | dbSNP |
| 17 | g.43067518T>C | CA2260771249 | BRCA1 | c.5074+90A>G (p.=) c.5137+90A>G (p.=) n.1461+90A>G c.1648+90A>G (p.=) c.*4857+90A>G (p.=) c.1762+90A>G (p.=) n.317A>G n.1387+90A>G (p.=) c.4933+90A>G (p.=) c.1624+90A>G (p.=) c.5-3567A>G (p.=) c.547+90A>G (p.=) c.-98-17328A>G (p.=) n.5210+90A>G n.5251+90A>G | |
| 17 | g.43067518T= | CA2260771248 | BRCA1 | c.5074+90A= (p.=) c.5137+90A= (p.=) n.1461+90A= c.1648+90A= (p.=) c.*4857+90A= (p.=) c.1762+90A= (p.=) n.317A= n.1387+90A= (p.=) c.4933+90A= (p.=) c.1624+90A= (p.=) c.5-3567A= (p.=) c.547+90A= (p.=) c.-98-17328A= (p.=) n.5210+90A= n.5251+90A= | |
| 17 | g.43067519G>A | CA626081550 | BRCA1 | c.5074+89C>T (p.=) c.5137+89C>T (p.=) n.1461+89C>T c.1648+89C>T (p.=) c.*4857+89C>T (p.=) c.1762+89C>T (p.=) n.316C>T n.1387+89C>T (p.=) c.4933+89C>T (p.=) c.1624+89C>T (p.=) c.5-3568C>T (p.=) c.547+89C>T (p.=) c.-98-17329C>T (p.=) n.5210+89C>T n.5251+89C>T | gnomAD |
| 17 | g.43067519G= | CA2260771250 | BRCA1 | c.5074+89C= (p.=) c.5137+89C= (p.=) n.1461+89C= c.1648+89C= (p.=) c.*4857+89C= (p.=) c.1762+89C= (p.=) n.316C= n.1387+89C= (p.=) c.4933+89C= (p.=) c.1624+89C= (p.=) c.5-3568C= (p.=) c.547+89C= (p.=) c.-98-17329C= (p.=) n.5210+89C= n.5251+89C= | |
| 17 | g.43067523C>A | CA626081551 | BRCA1 | c.5074+85G>T (p.=) c.5137+85G>T (p.=) n.1461+85G>T c.1648+85G>T (p.=) c.*4857+85G>T (p.=) c.1762+85G>T (p.=) n.312G>T n.1387+85G>T (p.=) c.4933+85G>T (p.=) c.1624+85G>T (p.=) c.5-3572G>T (p.=) c.547+85G>T (p.=) c.-98-17333G>T (p.=) n.5210+85G>T n.5251+85G>T | gnomAD |
| 17 | g.43067523C= | CA2260771251 | BRCA1 | c.5074+85G= (p.=) c.5137+85G= (p.=) n.1461+85G= c.1648+85G= (p.=) c.*4857+85G= (p.=) c.1762+85G= (p.=) n.312G= n.1387+85G= (p.=) c.4933+85G= (p.=) c.1624+85G= (p.=) c.5-3572G= (p.=) c.547+85G= (p.=) c.-98-17333G= (p.=) n.5210+85G= n.5251+85G= | |
| 17 | g.43067523C>G | CA2260771252 | BRCA1 | c.5074+85G>C (p.=) c.5137+85G>C (p.=) n.1461+85G>C c.1648+85G>C (p.=) c.*4857+85G>C (p.=) c.1762+85G>C (p.=) n.312G>C n.1387+85G>C (p.=) c.4933+85G>C (p.=) c.1624+85G>C (p.=) c.5-3572G>C (p.=) c.547+85G>C (p.=) c.-98-17333G>C (p.=) n.5210+85G>C n.5251+85G>C | |
| 17 | g.43067523C>T | CA290827707 | BRCA1 | c.5074+85G>A (p.=) c.5137+85G>A (p.=) n.1461+85G>A c.1648+85G>A (p.=) c.*4857+85G>A (p.=) c.1762+85G>A (p.=) n.312G>A n.1387+85G>A (p.=) c.4933+85G>A (p.=) c.1624+85G>A (p.=) c.5-3572G>A (p.=) c.547+85G>A (p.=) c.-98-17333G>A (p.=) n.5210+85G>A n.5251+85G>A | dbSNP gnomAD |
| 17 | g.43067524G>A | CA290827708 | BRCA1 | c.5074+84C>T (p.=) c.5137+84C>T (p.=) n.1461+84C>T c.1648+84C>T (p.=) c.*4857+84C>T (p.=) c.1762+84C>T (p.=) n.311C>T n.1387+84C>T (p.=) c.4933+84C>T (p.=) c.1624+84C>T (p.=) c.5-3573C>T (p.=) c.547+84C>T (p.=) c.-98-17334C>T (p.=) n.5210+84C>T n.5251+84C>T | dbSNP |
| 17 | g.43067524G= | CA2260771253 | BRCA1 | c.5074+84C= (p.=) c.5137+84C= (p.=) n.1461+84C= c.1648+84C= (p.=) c.*4857+84C= (p.=) c.1762+84C= (p.=) n.311C= n.1387+84C= (p.=) c.4933+84C= (p.=) c.1624+84C= (p.=) c.5-3573C= (p.=) c.547+84C= (p.=) c.-98-17334C= (p.=) n.5210+84C= n.5251+84C= | |
| 17 | g.43067524_43070203del | CA10602582 | BRCA1 | c.4986+725_5074+84del c.5049+725_5137+84del n.1373+725_1461+84del c.1560+725_1648+84del c.*4769+725_*4857+84del c.1674+725_1762+84del n.139+725_311del n.1299+725_1387+84del c.4845+725_4933+84del c.1536+725_1624+84del c.5-6252_5-3573del (p.=) c.459+725_547+84del c.-98-20013_-98-17334del (p.=) n.5122+725_5210+84del n.5163+725_5251+84del | ClinVar |
| 17 | g.43067528A= | CA2260771255 | BRCA1 | c.5074+80T= (p.=) c.5137+80T= (p.=) n.1461+80T= c.1648+80T= (p.=) c.*4857+80T= (p.=) c.1762+80T= (p.=) n.307T= n.1387+80T= (p.=) c.4933+80T= (p.=) c.1624+80T= (p.=) c.5-3577T= (p.=) c.547+80T= (p.=) c.-98-17338T= (p.=) n.5210+80T= n.5251+80T= | |
| 17 | g.43067528A>G | CA2260771254 | BRCA1 | c.5074+80T>C (p.=) c.5137+80T>C (p.=) n.1461+80T>C c.1648+80T>C (p.=) c.*4857+80T>C (p.=) c.1762+80T>C (p.=) n.307T>C n.1387+80T>C (p.=) c.4933+80T>C (p.=) c.1624+80T>C (p.=) c.5-3577T>C (p.=) c.547+80T>C (p.=) c.-98-17338T>C (p.=) n.5210+80T>C n.5251+80T>C | |
| 17 | g.43067529C= | CA2260771256 | BRCA1 | c.5074+79G= (p.=) c.5137+79G= (p.=) n.1461+79G= c.1648+79G= (p.=) c.*4857+79G= (p.=) c.1762+79G= (p.=) n.306G= n.1387+79G= (p.=) c.4933+79G= (p.=) c.1624+79G= (p.=) c.5-3578G= (p.=) c.547+79G= (p.=) c.-98-17339G= (p.=) n.5210+79G= n.5251+79G= | |
| 17 | g.43067529C>T | CA290827711 | BRCA1 | c.5074+79G>A (p.=) c.5137+79G>A (p.=) n.1461+79G>A c.1648+79G>A (p.=) c.*4857+79G>A (p.=) c.1762+79G>A (p.=) n.306G>A n.1387+79G>A (p.=) c.4933+79G>A (p.=) c.1624+79G>A (p.=) c.5-3578G>A (p.=) c.547+79G>A (p.=) c.-98-17339G>A (p.=) n.5210+79G>A n.5251+79G>A | dbSNP gnomAD |
| 17 | g.43067533C= | CA2260771257 | BRCA1 | c.5074+75G= (p.=) c.5137+75G= (p.=) n.1461+75G= c.1648+75G= (p.=) c.*4857+75G= (p.=) c.1762+75G= (p.=) n.302G= n.1387+75G= (p.=) c.4933+75G= (p.=) c.1624+75G= (p.=) c.5-3582G= (p.=) c.547+75G= (p.=) c.-98-17343G= (p.=) n.5210+75G= n.5251+75G= | |
| 17 | g.43067533C>T | CA626081553 | BRCA1 | c.5074+75G>A (p.=) c.5137+75G>A (p.=) n.1461+75G>A c.1648+75G>A (p.=) c.*4857+75G>A (p.=) c.1762+75G>A (p.=) n.302G>A n.1387+75G>A (p.=) c.4933+75G>A (p.=) c.1624+75G>A (p.=) c.5-3582G>A (p.=) c.547+75G>A (p.=) c.-98-17343G>A (p.=) n.5210+75G>A n.5251+75G>A | gnomAD |
| 17 | g.43067534A= | CA2260771258 | BRCA1 | c.5074+74T= (p.=) c.5137+74T= (p.=) n.1461+74T= c.1648+74T= (p.=) c.*4857+74T= (p.=) c.1762+74T= (p.=) n.301T= n.1387+74T= (p.=) c.4933+74T= (p.=) c.1624+74T= (p.=) c.5-3583T= (p.=) c.547+74T= (p.=) c.-98-17344T= (p.=) n.5210+74T= n.5251+74T= | |
| 17 | g.43067534A>G | CA626081555 | BRCA1 | c.5074+74T>C (p.=) c.5137+74T>C (p.=) n.1461+74T>C c.1648+74T>C (p.=) c.*4857+74T>C (p.=) c.1762+74T>C (p.=) n.301T>C n.1387+74T>C (p.=) c.4933+74T>C (p.=) c.1624+74T>C (p.=) c.5-3583T>C (p.=) c.547+74T>C (p.=) c.-98-17344T>C (p.=) n.5210+74T>C n.5251+74T>C | gnomAD |
| 17 | g.43067535T>G | CA290827712 | BRCA1 | c.5074+73A>C (p.=) c.5137+73A>C (p.=) n.1461+73A>C c.1648+73A>C (p.=) c.*4857+73A>C (p.=) c.1762+73A>C (p.=) n.300A>C n.1387+73A>C (p.=) c.4933+73A>C (p.=) c.1624+73A>C (p.=) c.5-3584A>C (p.=) c.547+73A>C (p.=) c.-98-17345A>C (p.=) n.5210+73A>C n.5251+73A>C | dbSNP gnomAD |
| 17 | g.43067535T= | CA2260771259 | BRCA1 | c.5074+73A= (p.=) c.5137+73A= (p.=) n.1461+73A= c.1648+73A= (p.=) c.*4857+73A= (p.=) c.1762+73A= (p.=) n.300A= n.1387+73A= (p.=) c.4933+73A= (p.=) c.1624+73A= (p.=) c.5-3584A= (p.=) c.547+73A= (p.=) c.-98-17345A= (p.=) n.5210+73A= n.5251+73A= | |
| 17 | g.43067536G>A | CA983876816 | BRCA1 | c.5074+72C>T (p.=) c.5137+72C>T (p.=) n.1461+72C>T c.1648+72C>T (p.=) c.*4857+72C>T (p.=) c.1762+72C>T (p.=) n.299C>T n.1387+72C>T (p.=) c.4933+72C>T (p.=) c.1624+72C>T (p.=) c.5-3585C>T (p.=) c.547+72C>T (p.=) c.-98-17346C>T (p.=) n.5210+72C>T n.5251+72C>T | |
| 17 | g.43067536G= | CA2260771261 | BRCA1 | c.5074+72C= (p.=) c.5137+72C= (p.=) n.1461+72C= c.1648+72C= (p.=) c.*4857+72C= (p.=) c.1762+72C= (p.=) n.299C= n.1387+72C= (p.=) c.4933+72C= (p.=) c.1624+72C= (p.=) c.5-3585C= (p.=) c.547+72C= (p.=) c.-98-17346C= (p.=) n.5210+72C= n.5251+72C= | |
| 17 | g.43067536_43067549delinsGCGCCACCGTGCCT | CA2260771260 | BRCA1 | c.5074+59_5074+72delinsAGGCACGGTGGCGC (p.=) c.5137+59_5137+72delinsAGGCACGGTGGCGC (p.=) n.1461+59_1461+72delinsAGGCACGGTGGCGC c.1648+59_1648+72delinsAGGCACGGTGGCGC (p.=) c.*4857+59_*4857+72delinsAGGCACGGTGGCGC (p.=) c.1762+59_1762+72delinsAGGCACGGTGGCGC (p.=) n.286_299delinsAGGCACGGTGGCGC n.1387+59_1387+72delinsAGGCACGGTGGCGC (p.=) c.4933+59_4933+72delinsAGGCACGGTGGCGC (p.=) c.1624+59_1624+72delinsAGGCACGGTGGCGC (p.=) c.5-3598_5-3585delinsAGGCACGGTGGCGC (p.=) c.547+59_547+72delinsAGGCACGGTGGCGC (p.=) c.-98-17359_-98-17346delinsAGGCACGGTGGCGC (p.=) n.5210+59_5210+72delinsAGGCACGGTGGCGC n.5251+59_5251+72delinsAGGCACGGTGGCGC | |
| 17 | g.43067537C>A | CA626081558 | BRCA1 | c.5074+71G>T (p.=) c.5137+71G>T (p.=) n.1461+71G>T c.1648+71G>T (p.=) c.*4857+71G>T (p.=) c.1762+71G>T (p.=) n.298G>T n.1387+71G>T (p.=) c.4933+71G>T (p.=) c.1624+71G>T (p.=) c.5-3586G>T (p.=) c.547+71G>T (p.=) c.-98-17347G>T (p.=) n.5210+71G>T n.5251+71G>T | gnomAD |
| 17 | g.43067537C= | CA2260771262 | BRCA1 | c.5074+71G= (p.=) c.5137+71G= (p.=) n.1461+71G= c.1648+71G= (p.=) c.*4857+71G= (p.=) c.1762+71G= (p.=) n.298G= n.1387+71G= (p.=) c.4933+71G= (p.=) c.1624+71G= (p.=) c.5-3586G= (p.=) c.547+71G= (p.=) c.-98-17347G= (p.=) n.5210+71G= n.5251+71G= | |
| 17 | g.43067537C>T | CA290827716 | BRCA1 | c.5074+71G>A (p.=) c.5137+71G>A (p.=) n.1461+71G>A c.1648+71G>A (p.=) c.*4857+71G>A (p.=) c.1762+71G>A (p.=) n.298G>A n.1387+71G>A (p.=) c.4933+71G>A (p.=) c.1624+71G>A (p.=) c.5-3586G>A (p.=) c.547+71G>A (p.=) c.-98-17347G>A (p.=) n.5210+71G>A n.5251+71G>A | dbSNP gnomAD |
| 17 | g.43067541_43067553del | CA772176479 | BRCA1 | c.5074+59_5074+71del (p.=) c.5137+59_5137+71del (p.=) n.1461+59_1461+71del c.1648+59_1648+71del (p.=) c.*4857+59_*4857+71del (p.=) c.1762+59_1762+71del (p.=) n.286_298del n.1387+59_1387+71del (p.=) c.4933+59_4933+71del (p.=) c.1624+59_1624+71del (p.=) c.5-3598_5-3586del (p.=) c.547+59_547+71del (p.=) c.-98-17359_-98-17347del (p.=) n.5210+59_5210+71del n.5251+59_5251+71del | dbSNP |
| 17 | g.43067538G>A | CA290827718 | BRCA1 | c.5074+70C>T (p.=) c.5137+70C>T (p.=) n.1461+70C>T c.1648+70C>T (p.=) c.*4857+70C>T (p.=) c.1762+70C>T (p.=) n.297C>T n.1387+70C>T (p.=) c.4933+70C>T (p.=) c.1624+70C>T (p.=) c.5-3587C>T (p.=) c.547+70C>T (p.=) c.-98-17348C>T (p.=) n.5210+70C>T n.5251+70C>T | dbSNP |
| 17 | g.43067538G= | CA2260771263 | BRCA1 | c.5074+70C= (p.=) c.5137+70C= (p.=) n.1461+70C= c.1648+70C= (p.=) c.*4857+70C= (p.=) c.1762+70C= (p.=) n.297C= n.1387+70C= (p.=) c.4933+70C= (p.=) c.1624+70C= (p.=) c.5-3587C= (p.=) c.547+70C= (p.=) c.-98-17348C= (p.=) n.5210+70C= n.5251+70C= | |
| 17 | g.43067539C>A | CA772176483 | BRCA1 | c.5074+69G>T (p.=) c.5137+69G>T (p.=) n.1461+69G>T c.1648+69G>T (p.=) c.*4857+69G>T (p.=) c.1762+69G>T (p.=) n.296G>T n.1387+69G>T (p.=) c.4933+69G>T (p.=) c.1624+69G>T (p.=) c.5-3588G>T (p.=) c.547+69G>T (p.=) c.-98-17349G>T (p.=) n.5210+69G>T n.5251+69G>T | |
| 17 | g.43067539C= | CA2260771264 | BRCA1 | c.5074+69G= (p.=) c.5137+69G= (p.=) n.1461+69G= c.1648+69G= (p.=) c.*4857+69G= (p.=) c.1762+69G= (p.=) n.296G= n.1387+69G= (p.=) c.4933+69G= (p.=) c.1624+69G= (p.=) c.5-3588G= (p.=) c.547+69G= (p.=) c.-98-17349G= (p.=) n.5210+69G= n.5251+69G= | |
| 17 | g.43067539C>T | CA290827719 | BRCA1 | c.5074+69G>A (p.=) c.5137+69G>A (p.=) n.1461+69G>A c.1648+69G>A (p.=) c.*4857+69G>A (p.=) c.1762+69G>A (p.=) n.296G>A n.1387+69G>A (p.=) c.4933+69G>A (p.=) c.1624+69G>A (p.=) c.5-3588G>A (p.=) c.547+69G>A (p.=) c.-98-17349G>A (p.=) n.5210+69G>A n.5251+69G>A | dbSNP gnomAD |
| 17 | g.43067542C= | CA2260771265 | BRCA1 | c.5074+66G= (p.=) c.5137+66G= (p.=) n.1461+66G= c.1648+66G= (p.=) c.*4857+66G= (p.=) c.1762+66G= (p.=) n.293G= n.1387+66G= (p.=) c.4933+66G= (p.=) c.1624+66G= (p.=) c.5-3591G= (p.=) c.547+66G= (p.=) c.-98-17352G= (p.=) n.5210+66G= n.5251+66G= | |
| 17 | g.43067542C>G | CA2260771266 | BRCA1 | c.5074+66G>C (p.=) c.5137+66G>C (p.=) n.1461+66G>C c.1648+66G>C (p.=) c.*4857+66G>C (p.=) c.1762+66G>C (p.=) n.293G>C n.1387+66G>C (p.=) c.4933+66G>C (p.=) c.1624+66G>C (p.=) c.5-3591G>C (p.=) c.547+66G>C (p.=) c.-98-17352G>C (p.=) n.5210+66G>C n.5251+66G>C |