Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32363533_32370402del | CA916081282 | BRCA2 | c.8331_8332del c.7962_7963del c.798_799del c.8339_8340del c.896_897del c.8235_8236del | |
13 | g.32370353T>A | CA2622601160 | BRCA2 | c.8332-49T>A (n.8332-49T>A) c.7963-49T>A (n.7963-49T>A) c.799-49T>A (n.799-49T>A) c.8340-49T>A (n.8340-49T>A) c.897-49T>A c.8236-49T>A (n.8236-49T>A) | dbSNP gnomAD v4 |
13 | g.32370353T>C | CA2622601161 | BRCA2 | c.8332-49T>C (n.8332-49T>C) c.7963-49T>C (n.7963-49T>C) c.799-49T>C (n.799-49T>C) c.8340-49T>C (n.8340-49T>C) c.897-49T>C c.8236-49T>C (n.8236-49T>C) | dbSNP gnomAD v4 |
13 | g.32370354T>A | CA2727915704 | BRCA2 | c.8332-48T>A (n.8332-48T>A) c.7963-48T>A (n.7963-48T>A) c.799-48T>A (n.799-48T>A) c.8340-48T>A (n.8340-48T>A) c.897-48T>A c.8236-48T>A (n.8236-48T>A) | dbSNP |
13 | g.32370354T>C | CA2727915705 | BRCA2 | c.8332-48T>C (n.8332-48T>C) c.7963-48T>C (n.7963-48T>C) c.799-48T>C (n.799-48T>C) c.8340-48T>C (n.8340-48T>C) c.897-48T>C c.8236-48T>C (n.8236-48T>C) | dbSNP |
13 | g.32370355G>A | CA2727915706 | BRCA2 | c.8332-47G>A (n.8332-47G>A) c.7963-47G>A (n.7963-47G>A) c.799-47G>A (n.799-47G>A) c.8340-47G>A (n.8340-47G>A) c.897-47G>A c.8236-47G>A (n.8236-47G>A) | dbSNP |
13 | g.32370355G>C | CA2727915708 | BRCA2 | c.8332-47G>C (n.8332-47G>C) c.7963-47G>C (n.7963-47G>C) c.799-47G>C (n.799-47G>C) c.8340-47G>C (n.8340-47G>C) c.897-47G>C c.8236-47G>C (n.8236-47G>C) | dbSNP |
13 | g.32370356A>T | CA2727915710 | BRCA2 | c.8332-46A>T (n.8332-46A>T) c.7963-46A>T (n.7963-46A>T) c.799-46A>T (n.799-46A>T) c.8340-46A>T (n.8340-46A>T) c.897-46A>T c.8236-46A>T (n.8236-46A>T) | dbSNP |
13 | g.32370357A= | CA2082812798 | BRCA2 | c.8332-45A= (n.8332-45A=) c.7963-45A= (n.7963-45A=) c.799-45A= (n.799-45A=) c.8340-45A= (n.8340-45A=) c.897-45A= c.8236-45A= (n.8236-45A=) | |
13 | g.32370357A>G | CA247482961 | BRCA2 | c.8332-45A>G (n.8332-45A>G) c.7963-45A>G (n.7963-45A>G) c.799-45A>G (n.799-45A>G) c.8340-45A>G (n.8340-45A>G) c.897-45A>G c.8236-45A>G (n.8236-45A>G) | dbSNP |
13 | g.32370357A>T | CA2727841637 | BRCA2 | c.8332-45A>T (n.8332-45A>T) c.7963-45A>T (n.7963-45A>T) c.799-45A>T (n.799-45A>T) c.8340-45A>T (n.8340-45A>T) c.897-45A>T c.8236-45A>T (n.8236-45A>T) | dbSNP |
13 | g.32370358T>A | CA2727915775 | BRCA2 | c.8332-44T>A (n.8332-44T>A) c.7963-44T>A (n.7963-44T>A) c.799-44T>A (n.799-44T>A) c.8340-44T>A (n.8340-44T>A) c.897-44T>A c.8236-44T>A (n.8236-44T>A) | dbSNP |
13 | g.32370358T>G | CA2727915739 | BRCA2 | c.8332-44T>G (n.8332-44T>G) c.7963-44T>G (n.7963-44T>G) c.799-44T>G (n.799-44T>G) c.8340-44T>G (n.8340-44T>G) c.897-44T>G c.8236-44T>G (n.8236-44T>G) | dbSNP |
13 | g.32370359A>G | CA2727915816 | BRCA2 | c.8332-43A>G (n.8332-43A>G) c.7963-43A>G (n.7963-43A>G) c.799-43A>G (n.799-43A>G) c.8340-43A>G (n.8340-43A>G) c.897-43A>G c.8236-43A>G (n.8236-43A>G) | dbSNP |
13 | g.32370359A>T | CA2727915796 | BRCA2 | c.8332-43A>T (n.8332-43A>T) c.7963-43A>T (n.7963-43A>T) c.799-43A>T (n.799-43A>T) c.8340-43A>T (n.8340-43A>T) c.897-43A>T c.8236-43A>T (n.8236-43A>T) | dbSNP |
13 | g.32370360C>A | CA2622601162 | BRCA2 | c.8332-42C>A (n.8332-42C>A) c.7963-42C>A (n.7963-42C>A) c.799-42C>A (n.799-42C>A) c.8340-42C>A (n.8340-42C>A) c.897-42C>A c.8236-42C>A (n.8236-42C>A) | dbSNP gnomAD v4 |
13 | g.32370360C= | CA2082812800 | BRCA2 | c.8332-42C= (n.8332-42C=) c.7963-42C= (n.7963-42C=) c.799-42C= (n.799-42C=) c.8340-42C= (n.8340-42C=) c.897-42C= c.8236-42C= (n.8236-42C=) | |
13 | g.32370360C>G | CA954706765 | BRCA2 | c.8332-42C>G (n.8332-42C>G) c.7963-42C>G (n.7963-42C>G) c.799-42C>G (n.799-42C>G) c.8340-42C>G (n.8340-42C>G) c.897-42C>G c.8236-42C>G (n.8236-42C>G) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370360C>T | CA2622601163 | BRCA2 | c.8332-42C>T (n.8332-42C>T) c.7963-42C>T (n.7963-42C>T) c.799-42C>T (n.799-42C>T) c.8340-42C>T (n.8340-42C>T) c.897-42C>T c.8236-42C>T (n.8236-42C>T) | dbSNP gnomAD v4 |
13 | g.32370361A= | CA2082812808 | BRCA2 | c.8332-41A= (n.8332-41A=) c.7963-41A= (n.7963-41A=) c.799-41A= (n.799-41A=) c.8340-41A= (n.8340-41A=) c.897-41A= c.8236-41A= (n.8236-41A=) | |
13 | g.32370361A>C | CA6941215 | BRCA2 | c.8332-41A>C (n.8332-41A>C) c.7963-41A>C (n.7963-41A>C) c.799-41A>C (n.799-41A>C) c.8340-41A>C (n.8340-41A>C) c.897-41A>C c.8236-41A>C (n.8236-41A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370361A>G | CA645372941 | BRCA2 | c.8332-41A>G (n.8332-41A>G) c.7963-41A>G (n.7963-41A>G) c.799-41A>G (n.799-41A>G) c.8340-41A>G (n.8340-41A>G) c.897-41A>G c.8236-41A>G (n.8236-41A>G) | ClinVar dbSNP |
13 | g.32370361A>T | CA2727839507 | BRCA2 | c.8332-41A>T (n.8332-41A>T) c.7963-41A>T (n.7963-41A>T) c.799-41A>T (n.799-41A>T) c.8340-41A>T (n.8340-41A>T) c.897-41A>T c.8236-41A>T (n.8236-41A>T) | dbSNP |
13 | g.32370362T>A | CA2727915829 | BRCA2 | c.8332-40T>A (n.8332-40T>A) c.7963-40T>A (n.7963-40T>A) c.799-40T>A (n.799-40T>A) c.8340-40T>A (n.8340-40T>A) c.897-40T>A c.8236-40T>A (n.8236-40T>A) | dbSNP |
13 | g.32370362T>C | CA654745727 | BRCA2 | c.8332-40T>C (n.8332-40T>C) c.7963-40T>C (n.7963-40T>C) c.799-40T>C (n.799-40T>C) c.8340-40T>C (n.8340-40T>C) c.897-40T>C c.8236-40T>C (n.8236-40T>C) | dbSNP COSMIC |
13 | g.32370363A>T | CA2575387938 | BRCA2 | c.8332-39A>T (n.8332-39A>T) c.7963-39A>T (n.7963-39A>T) c.799-39A>T (n.799-39A>T) c.8340-39A>T (n.8340-39A>T) c.897-39A>T c.8236-39A>T (n.8236-39A>T) | |
13 | g.32370364T>A | CA2727915833 | BRCA2 | c.8332-38T>A (n.8332-38T>A) c.7963-38T>A (n.7963-38T>A) c.799-38T>A (n.799-38T>A) c.8340-38T>A (n.8340-38T>A) c.897-38T>A c.8236-38T>A (n.8236-38T>A) | dbSNP |
13 | g.32370364T>C | CA2727915832 | BRCA2 | c.8332-38T>C (n.8332-38T>C) c.7963-38T>C (n.7963-38T>C) c.799-38T>C (n.799-38T>C) c.8340-38T>C (n.8340-38T>C) c.897-38T>C c.8236-38T>C (n.8236-38T>C) | dbSNP |
13 | g.32370366del | CA2575387939 | BRCA2 | c.8332-36del (n.8332-36del) c.7963-36del (n.7963-36del) c.799-36del (n.799-36del) c.8340-36del (n.8340-36del) c.897-36del c.8236-36del (n.8236-36del) | |
13 | g.32370365T>G | CA2082812822 | BRCA2 | c.8332-37T>G (n.8332-37T>G) c.7963-37T>G (n.7963-37T>G) c.799-37T>G (n.799-37T>G) c.8340-37T>G (n.8340-37T>G) c.897-37T>G c.8236-37T>G (n.8236-37T>G) | dbSNP |
13 | g.32370365T= | CA2082812818 | BRCA2 | c.8332-37T= (n.8332-37T=) c.7963-37T= (n.7963-37T=) c.799-37T= (n.799-37T=) c.8340-37T= (n.8340-37T=) c.897-37T= c.8236-37T= (n.8236-37T=) | |
13 | g.32370367A>G | CA2727915863 | BRCA2 | c.8332-35A>G (n.8332-35A>G) c.7963-35A>G (n.7963-35A>G) c.799-35A>G (n.799-35A>G) c.8340-35A>G (n.8340-35A>G) c.897-35A>G c.8236-35A>G (n.8236-35A>G) | dbSNP |
13 | g.32370367A>T | CA2727915849 | BRCA2 | c.8332-35A>T (n.8332-35A>T) c.7963-35A>T (n.7963-35A>T) c.799-35A>T (n.799-35A>T) c.8340-35A>T (n.8340-35A>T) c.897-35A>T c.8236-35A>T (n.8236-35A>T) | dbSNP |
13 | g.32370368del | CA2727915838 | BRCA2 | c.8332-34del (n.8332-34del) c.7963-34del (n.7963-34del) c.799-34del (n.799-34del) c.8340-34del (n.8340-34del) c.897-34del c.8236-34del (n.8236-34del) | dbSNP |
13 | g.32370368A>C | CA2727915912 | BRCA2 | c.8332-34A>C (n.8332-34A>C) c.7963-34A>C (n.7963-34A>C) c.799-34A>C (n.799-34A>C) c.8340-34A>C (n.8340-34A>C) c.897-34A>C c.8236-34A>C (n.8236-34A>C) | dbSNP |
13 | g.32370368A>T | CA2727915871 | BRCA2 | c.8332-34A>T (n.8332-34A>T) c.7963-34A>T (n.7963-34A>T) c.799-34A>T (n.799-34A>T) c.8340-34A>T (n.8340-34A>T) c.897-34A>T c.8236-34A>T (n.8236-34A>T) | dbSNP |
13 | g.32370369C>A | CA2622601164 | BRCA2 | c.8332-33C>A (n.8332-33C>A) c.7963-33C>A (n.7963-33C>A) c.799-33C>A (n.799-33C>A) c.8340-33C>A (n.8340-33C>A) c.897-33C>A c.8236-33C>A (n.8236-33C>A) | gnomAD v4 |
13 | g.32370369C>G | CA2622601165 | BRCA2 | c.8332-33C>G (n.8332-33C>G) c.7963-33C>G (n.7963-33C>G) c.799-33C>G (n.799-33C>G) c.8340-33C>G (n.8340-33C>G) c.897-33C>G c.8236-33C>G (n.8236-33C>G) | dbSNP gnomAD v4 |
13 | g.32370370T>A | CA2727860283 | BRCA2 | c.8332-32T>A (n.8332-32T>A) c.7963-32T>A (n.7963-32T>A) c.799-32T>A (n.799-32T>A) c.8340-32T>A (n.8340-32T>A) c.897-32T>A c.8236-32T>A (n.8236-32T>A) | dbSNP |
13 | g.32370370T>C | CA609453956 | BRCA2 | c.8332-32T>C (n.8332-32T>C) c.7963-32T>C (n.7963-32T>C) c.799-32T>C (n.799-32T>C) c.8340-32T>C (n.8340-32T>C) c.897-32T>C c.8236-32T>C (n.8236-32T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370370T>G | CA2622601166 | BRCA2 | c.8332-32T>G (n.8332-32T>G) c.7963-32T>G (n.7963-32T>G) c.799-32T>G (n.799-32T>G) c.8340-32T>G (n.8340-32T>G) c.897-32T>G c.8236-32T>G (n.8236-32T>G) | gnomAD v4 |
13 | g.32370370T= | CA2082812824 | BRCA2 | c.8332-32T= (n.8332-32T=) c.7963-32T= (n.7963-32T=) c.799-32T= (n.799-32T=) c.8340-32T= (n.8340-32T=) c.897-32T= c.8236-32T= (n.8236-32T=) | |
13 | g.32370371A= | CA2082812828 | BRCA2 | c.8332-31A= (n.8332-31A=) c.7963-31A= (n.7963-31A=) c.799-31A= (n.799-31A=) c.8340-31A= (n.8340-31A=) c.897-31A= c.8236-31A= (n.8236-31A=) | |
13 | g.32370371A>C | CA247482968 | BRCA2 | c.8332-31A>C (n.8332-31A>C) c.7963-31A>C (n.7963-31A>C) c.799-31A>C (n.799-31A>C) c.8340-31A>C (n.8340-31A>C) c.897-31A>C c.8236-31A>C (n.8236-31A>C) | dbSNP gnomAD v4 |
13 | g.32370371A>T | CA2727835706 | BRCA2 | c.8332-31A>T (n.8332-31A>T) c.7963-31A>T (n.7963-31A>T) c.799-31A>T (n.799-31A>T) c.8340-31A>T (n.8340-31A>T) c.897-31A>T c.8236-31A>T (n.8236-31A>T) | dbSNP |
13 | g.32370372C>A | CA2727915924 | BRCA2 | c.8332-30C>A (n.8332-30C>A) c.7963-30C>A (n.7963-30C>A) c.799-30C>A (n.799-30C>A) c.8340-30C>A (n.8340-30C>A) c.897-30C>A c.8236-30C>A (n.8236-30C>A) | dbSNP |
13 | g.32370372C>G | CA2727915953 | BRCA2 | c.8332-30C>G (n.8332-30C>G) c.7963-30C>G (n.7963-30C>G) c.799-30C>G (n.799-30C>G) c.8340-30C>G (n.8340-30C>G) c.897-30C>G c.8236-30C>G (n.8236-30C>G) | dbSNP |
13 | g.32370372C>T | CA2727915954 | BRCA2 | c.8332-30C>T (n.8332-30C>T) c.7963-30C>T (n.7963-30C>T) c.799-30C>T (n.799-30C>T) c.8340-30C>T (n.8340-30C>T) c.897-30C>T c.8236-30C>T (n.8236-30C>T) | dbSNP |
13 | g.32370374A= | CA2082812830 | BRCA2 | c.8332-28A= (n.8332-28A=) c.7963-28A= (n.7963-28A=) c.799-28A= (n.799-28A=) c.8340-28A= (n.8340-28A=) c.897-28A= c.8236-28A= (n.8236-28A=) | |
13 | g.32370374A>G | CA247482981 | BRCA2 | c.8332-28A>G (n.8332-28A>G) c.7963-28A>G (n.7963-28A>G) c.799-28A>G (n.799-28A>G) c.8340-28A>G (n.8340-28A>G) c.897-28A>G c.8236-28A>G (n.8236-28A>G) | ClinVar dbSNP gnomAD v4 |
13 | g.32370374A>T | CA2727836593 | BRCA2 | c.8332-28A>T (n.8332-28A>T) c.7963-28A>T (n.7963-28A>T) c.799-28A>T (n.799-28A>T) c.8340-28A>T (n.8340-28A>T) c.897-28A>T c.8236-28A>T (n.8236-28A>T) | dbSNP |
13 | g.32370375A= | CA2082812832 | BRCA2 | c.8332-27A= (n.8332-27A=) c.7963-27A= (n.7963-27A=) c.799-27A= (n.799-27A=) c.8340-27A= (n.8340-27A=) c.897-27A= c.8236-27A= (n.8236-27A=) | |
13 | g.32370375A>C | CA2082812834 | BRCA2 | c.8332-27A>C (n.8332-27A>C) c.7963-27A>C (n.7963-27A>C) c.799-27A>C (n.799-27A>C) c.8340-27A>C (n.8340-27A>C) c.897-27A>C c.8236-27A>C (n.8236-27A>C) | dbSNP gnomAD v4 |
13 | g.32370375A>T | CA2727913123 | BRCA2 | c.8332-27A>T (n.8332-27A>T) c.7963-27A>T (n.7963-27A>T) c.799-27A>T (n.799-27A>T) c.8340-27A>T (n.8340-27A>T) c.897-27A>T c.8236-27A>T (n.8236-27A>T) | dbSNP |
13 | g.32370377T>A | CA2727915955 | BRCA2 | c.8332-25T>A (n.8332-25T>A) c.7963-25T>A (n.7963-25T>A) c.799-25T>A (n.799-25T>A) c.8340-25T>A (n.8340-25T>A) c.897-25T>A c.8236-25T>A (n.8236-25T>A) | dbSNP |
13 | g.32370377T>G | CA2575387940 | BRCA2 | c.8332-25T>G (n.8332-25T>G) c.7963-25T>G (n.7963-25T>G) c.799-25T>G (n.799-25T>G) c.8340-25T>G (n.8340-25T>G) c.897-25T>G c.8236-25T>G (n.8236-25T>G) | gnomAD v4 |
13 | g.32370378C>A | CA2622601167 | BRCA2 | c.8332-24C>A (n.8332-24C>A) c.7963-24C>A (n.7963-24C>A) c.799-24C>A (n.799-24C>A) c.8340-24C>A (n.8340-24C>A) c.897-24C>A c.8236-24C>A (n.8236-24C>A) | dbSNP gnomAD v4 |
13 | g.32370378C= | CA2082812838 | BRCA2 | c.8332-24C= (n.8332-24C=) c.7963-24C= (n.7963-24C=) c.799-24C= (n.799-24C=) c.8340-24C= (n.8340-24C=) c.897-24C= c.8236-24C= (n.8236-24C=) | |
13 | g.32370378C>G | CA2622601168 | BRCA2 | c.8332-24C>G (n.8332-24C>G) c.7963-24C>G (n.7963-24C>G) c.799-24C>G (n.799-24C>G) c.8340-24C>G (n.8340-24C>G) c.897-24C>G c.8236-24C>G (n.8236-24C>G) | dbSNP gnomAD v4 |
13 | g.32370378C>T | CA2082812841 | BRCA2 | c.8332-24C>T (n.8332-24C>T) c.7963-24C>T (n.7963-24C>T) c.799-24C>T (n.799-24C>T) c.8340-24C>T (n.8340-24C>T) c.897-24C>T c.8236-24C>T (n.8236-24C>T) | dbSNP |
13 | g.32370379A>T | CA2727915956 | BRCA2 | c.8332-23A>T (n.8332-23A>T) c.7963-23A>T (n.7963-23A>T) c.799-23A>T (n.799-23A>T) c.8340-23A>T (n.8340-23A>T) c.897-23A>T c.8236-23A>T (n.8236-23A>T) | dbSNP |
13 | g.32370380dup | CA2622601169 | BRCA2 | c.8332-22dup (n.8332-22dup) c.7963-22dup (n.7963-22dup) c.799-22dup (n.799-22dup) c.8340-22dup (n.8340-22dup) c.897-22dup c.8236-22dup (n.8236-22dup) | gnomAD v4 |
13 | g.32370380A>T | CA2727915958 | BRCA2 | c.8332-22A>T (n.8332-22A>T) c.7963-22A>T (n.7963-22A>T) c.799-22A>T (n.799-22A>T) c.8340-22A>T (n.8340-22A>T) c.897-22A>T c.8236-22A>T (n.8236-22A>T) | dbSNP |
13 | g.32370380_32370381delinsAT | CA2082812845 | BRCA2 | c.8332-22_8332-21delinsAT (n.8332-22_8332-21delinsAT) c.7963-22_7963-21delinsAT (n.7963-22_7963-21delinsAT) c.799-22_799-21delinsAT (n.799-22_799-21delinsAT) c.8340-22_8340-21delinsAT (n.8340-22_8340-21delinsAT) c.897-22_897-21delinsAT c.8236-22_8236-21delinsAT (n.8236-22_8236-21delinsAT) | |
13 | g.32370381del | CA6941216 | BRCA2 | c.8332-21del (n.8332-21del) c.7963-21del (n.7963-21del) c.799-21del (n.799-21del) c.8340-21del (n.8340-21del) c.897-21del c.8236-21del (n.8236-21del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370381T>A | CA2727864645 | BRCA2 | c.8332-21T>A (n.8332-21T>A) c.7963-21T>A (n.7963-21T>A) c.799-21T>A (n.799-21T>A) c.8340-21T>A (n.8340-21T>A) c.897-21T>A c.8236-21T>A (n.8236-21T>A) | dbSNP |
13 | g.32370381T>C | CA609453957 | BRCA2 | c.8332-21T>C (n.8332-21T>C) c.7963-21T>C (n.7963-21T>C) c.799-21T>C (n.799-21T>C) c.8340-21T>C (n.8340-21T>C) c.897-21T>C c.8236-21T>C (n.8236-21T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370381T>G | CA2727864644 | BRCA2 | c.8332-21T>G (n.8332-21T>G) c.7963-21T>G (n.7963-21T>G) c.799-21T>G (n.799-21T>G) c.8340-21T>G (n.8340-21T>G) c.897-21T>G c.8236-21T>G (n.8236-21T>G) | dbSNP |
13 | g.32370381T= | CA2082812849 | BRCA2 | c.8332-21T= (n.8332-21T=) c.7963-21T= (n.7963-21T=) c.799-21T= (n.799-21T=) c.8340-21T= (n.8340-21T=) c.897-21T= c.8236-21T= (n.8236-21T=) | |
13 | g.32370382A>G | CA1164681428 | BRCA2 | c.8332-20A>G (n.8332-20A>G) c.7963-20A>G (n.7963-20A>G) c.799-20A>G (n.799-20A>G) c.8340-20A>G (n.8340-20A>G) c.897-20A>G c.8236-20A>G (n.8236-20A>G) | ClinVar dbSNP gnomAD v4 |
13 | g.32370383T>A | CA2575387941 | BRCA2 | c.8332-19T>A (n.8332-19T>A) c.7963-19T>A (n.7963-19T>A) c.799-19T>A (n.799-19T>A) c.8340-19T>A (n.8340-19T>A) c.897-19T>A c.8236-19T>A (n.8236-19T>A) | |
13 | g.32370383T>C | CA247482998 | BRCA2 | c.8332-19T>C (n.8332-19T>C) c.7963-19T>C (n.7963-19T>C) c.799-19T>C (n.799-19T>C) c.8340-19T>C (n.8340-19T>C) c.897-19T>C c.8236-19T>C (n.8236-19T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370383T= | CA2082812857 | BRCA2 | c.8332-19T= (n.8332-19T=) c.7963-19T= (n.7963-19T=) c.799-19T= (n.799-19T=) c.8340-19T= (n.8340-19T=) c.897-19T= c.8236-19T= (n.8236-19T=) | |
13 | g.32370384A>T | CA2499222324 | BRCA2 | c.8332-18A>T (n.8332-18A>T) c.7963-18A>T (n.7963-18A>T) c.799-18A>T (n.799-18A>T) c.8340-18A>T (n.8340-18A>T) c.897-18A>T c.8236-18A>T (n.8236-18A>T) | ClinVar dbSNP |
13 | g.32370385T>A | CA2727853377 | BRCA2 | c.8332-17T>A (n.8332-17T>A) c.7963-17T>A (n.7963-17T>A) c.799-17T>A (n.799-17T>A) c.8340-17T>A (n.8340-17T>A) c.897-17T>A c.8236-17T>A (n.8236-17T>A) | dbSNP |
13 | g.32370385T>C | CA16606447 | BRCA2 | c.8332-17T>C (n.8332-17T>C) c.7963-17T>C (n.7963-17T>C) c.799-17T>C (n.799-17T>C) c.8340-17T>C (n.8340-17T>C) c.897-17T>C c.8236-17T>C (n.8236-17T>C) | ClinVar dbSNP |
13 | g.32370385T= | CA2082812862 | BRCA2 | c.8332-17T= (n.8332-17T=) c.7963-17T= (n.7963-17T=) c.799-17T= (n.799-17T=) c.8340-17T= (n.8340-17T=) c.897-17T= c.8236-17T= (n.8236-17T=) | |
13 | g.32370386T>A | CA2575387942 | BRCA2 | c.8332-16T>A (n.8332-16T>A) c.7963-16T>A (n.7963-16T>A) c.799-16T>A (n.799-16T>A) c.8340-16T>A (n.8340-16T>A) c.897-16T>A c.8236-16T>A (n.8236-16T>A) | |
13 | g.32370386T>C | CA2727916021 | BRCA2 | c.8332-16T>C (n.8332-16T>C) c.7963-16T>C (n.7963-16T>C) c.799-16T>C (n.799-16T>C) c.8340-16T>C (n.8340-16T>C) c.897-16T>C c.8236-16T>C (n.8236-16T>C) | dbSNP |
13 | g.32370387T>A | CA6941217 | BRCA2 | c.8332-15T>A (n.8332-15T>A) c.7963-15T>A (n.7963-15T>A) c.799-15T>A (n.799-15T>A) c.8340-15T>A (n.8340-15T>A) c.897-15T>A c.8236-15T>A (n.8236-15T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370387T>C | CA915946892 | BRCA2 | c.8332-15T>C (n.8332-15T>C) c.7963-15T>C (n.7963-15T>C) c.799-15T>C (n.799-15T>C) c.8340-15T>C (n.8340-15T>C) c.897-15T>C c.8236-15T>C (n.8236-15T>C) | ClinVar dbSNP |
13 | g.32370387T= | CA2082812876 | BRCA2 | c.8332-15T= (n.8332-15T=) c.7963-15T= (n.7963-15T=) c.799-15T= (n.799-15T=) c.8340-15T= (n.8340-15T=) c.897-15T= c.8236-15T= (n.8236-15T=) | |
13 | g.32370388A>G | CA2580087338 | BRCA2 | c.8332-14A>G (n.8332-14A>G) c.7963-14A>G (n.7963-14A>G) c.799-14A>G (n.799-14A>G) c.8340-14A>G (n.8340-14A>G) c.897-14A>G c.8236-14A>G (n.8236-14A>G) | ClinVar gnomAD v4 |
13 | g.32370388A>T | CA2727916037 | BRCA2 | c.8332-14A>T (n.8332-14A>T) c.7963-14A>T (n.7963-14A>T) c.799-14A>T (n.799-14A>T) c.8340-14A>T (n.8340-14A>T) c.897-14A>T c.8236-14A>T (n.8236-14A>T) | dbSNP |
13 | g.32370391_32370394del | CA2727916055 | BRCA2 | c.8332-11_8332-8del (n.8332-11_8332-8del) c.7963-11_7963-8del (n.7963-11_7963-8del) c.799-11_799-8del (n.799-11_799-8del) c.8340-11_8340-8del (n.8340-11_8340-8del) c.897-11_897-8del c.8236-11_8236-8del (n.8236-11_8236-8del) | dbSNP |
13 | g.32370389T>A | CA2727878231 | BRCA2 | c.8332-13T>A (n.8332-13T>A) c.7963-13T>A (n.7963-13T>A) c.799-13T>A (n.799-13T>A) c.8340-13T>A (n.8340-13T>A) c.897-13T>A c.8236-13T>A (n.8236-13T>A) | dbSNP |
13 | g.32370389T>C | CA2727878232 | BRCA2 | c.8332-13T>C (n.8332-13T>C) c.7963-13T>C (n.7963-13T>C) c.799-13T>C (n.799-13T>C) c.8340-13T>C (n.8340-13T>C) c.897-13T>C c.8236-13T>C (n.8236-13T>C) | dbSNP |
13 | g.32370389T>G | CA915946893 | BRCA2 | c.8332-13T>G (n.8332-13T>G) c.7963-13T>G (n.7963-13T>G) c.799-13T>G (n.799-13T>G) c.8340-13T>G (n.8340-13T>G) c.897-13T>G c.8236-13T>G (n.8236-13T>G) | ClinVar dbSNP |
13 | g.32370389T= | CA2082812883 | BRCA2 | c.8332-13T= (n.8332-13T=) c.7963-13T= (n.7963-13T=) c.799-13T= (n.799-13T=) c.8340-13T= (n.8340-13T=) c.897-13T= c.8236-13T= (n.8236-13T=) | |
13 | g.32370390T>A | CA609453958 | BRCA2 | c.8332-12T>A (n.8332-12T>A) c.7963-12T>A (n.7963-12T>A) c.799-12T>A (n.799-12T>A) c.8340-12T>A (n.8340-12T>A) c.897-12T>A c.8236-12T>A (n.8236-12T>A) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32370390T= | CA2082812886 | BRCA2 | c.8332-12T= (n.8332-12T=) c.7963-12T= (n.7963-12T=) c.799-12T= (n.799-12T=) c.8340-12T= (n.8340-12T=) c.897-12T= c.8236-12T= (n.8236-12T=) | |
13 | g.32370391A= | CA2082812891 | BRCA2 | c.8332-11A= (n.8332-11A=) c.7963-11A= (n.7963-11A=) c.799-11A= (n.799-11A=) c.8340-11A= (n.8340-11A=) c.897-11A= c.8236-11A= (n.8236-11A=) | |
13 | g.32370391A>C | CA913188592 | BRCA2 | c.8332-11A>C (n.8332-11A>C) c.7963-11A>C (n.7963-11A>C) c.799-11A>C (n.799-11A>C) c.8340-11A>C (n.8340-11A>C) c.897-11A>C c.8236-11A>C (n.8236-11A>C) | ClinVar dbSNP |
13 | g.32370391A>G | CA6941218 | BRCA2 | c.8332-11A>G (n.8332-11A>G) c.7963-11A>G (n.7963-11A>G) c.799-11A>G (n.799-11A>G) c.8340-11A>G (n.8340-11A>G) c.897-11A>G c.8236-11A>G (n.8236-11A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370391A>T | CA2622601170 | BRCA2 | c.8332-11A>T (n.8332-11A>T) c.7963-11A>T (n.7963-11A>T) c.799-11A>T (n.799-11A>T) c.8340-11A>T (n.8340-11A>T) c.897-11A>T c.8236-11A>T (n.8236-11A>T) | dbSNP gnomAD v4 |
13 | g.32370392A= | CA2082812904 | BRCA2 | c.8332-10A= (n.8332-10A=) c.7963-10A= (n.7963-10A=) c.799-10A= (n.799-10A=) c.8340-10A= (n.8340-10A=) c.897-10A= c.8236-10A= (n.8236-10A=) | |
13 | g.32370392A>C | CA6941219 | BRCA2 | c.8332-10A>C (n.8332-10A>C) c.7963-10A>C (n.7963-10A>C) c.799-10A>C (n.799-10A>C) c.8340-10A>C (n.8340-10A>C) c.897-10A>C c.8236-10A>C (n.8236-10A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370392A>G | CA2697551783 | BRCA2 | c.8332-10A>G (n.8332-10A>G) c.7963-10A>G (n.7963-10A>G) c.799-10A>G (n.799-10A>G) c.8340-10A>G (n.8340-10A>G) c.897-10A>G c.8236-10A>G (n.8236-10A>G) | ClinVar |
13 | g.32370392A>T | CA2727839508 | BRCA2 | c.8332-10A>T (n.8332-10A>T) c.7963-10A>T (n.7963-10A>T) c.799-10A>T (n.799-10A>T) c.8340-10A>T (n.8340-10A>T) c.897-10A>T c.8236-10A>T (n.8236-10A>T) | dbSNP |
13 | g.32370393T>A | CA2727853378 | BRCA2 | c.8332-9T>A (n.8332-9T>A) c.7963-9T>A (n.7963-9T>A) c.799-9T>A (n.799-9T>A) c.8340-9T>A (n.8340-9T>A) c.897-9T>A c.8236-9T>A (n.8236-9T>A) | dbSNP |
13 | g.32370393T>C | CA2727853379 | BRCA2 | c.8332-9T>C (n.8332-9T>C) c.7963-9T>C (n.7963-9T>C) c.799-9T>C (n.799-9T>C) c.8340-9T>C (n.8340-9T>C) c.897-9T>C c.8236-9T>C (n.8236-9T>C) | dbSNP |
13 | g.32370393T>G | CA645372942 | BRCA2 | c.8332-9T>G (n.8332-9T>G) c.7963-9T>G (n.7963-9T>G) c.799-9T>G (n.799-9T>G) c.8340-9T>G (n.8340-9T>G) c.897-9T>G c.8236-9T>G (n.8236-9T>G) | ClinVar dbSNP |
13 | g.32370393T= | CA2082812921 | BRCA2 | c.8332-9T= (n.8332-9T=) c.7963-9T= (n.7963-9T=) c.799-9T= (n.799-9T=) c.8340-9T= (n.8340-9T=) c.897-9T= c.8236-9T= (n.8236-9T=) | |
13 | g.32370394T>A | CA2727916077 | BRCA2 | c.8332-8T>A (n.8332-8T>A) c.7963-8T>A (n.7963-8T>A) c.799-8T>A (n.799-8T>A) c.8340-8T>A (n.8340-8T>A) c.897-8T>A c.8236-8T>A (n.8236-8T>A) | dbSNP |
13 | g.32370395T>A | CA2739277516 | BRCA2 | c.8332-7T>A (n.8332-7T>A) c.7963-7T>A (n.7963-7T>A) c.799-7T>A (n.799-7T>A) c.8340-7T>A (n.8340-7T>A) c.897-7T>A c.8236-7T>A (n.8236-7T>A) | ClinVar |
13 | g.32370395T>C | CA2727916078 | BRCA2 | c.8332-7T>C (n.8332-7T>C) c.7963-7T>C (n.7963-7T>C) c.799-7T>C (n.799-7T>C) c.8340-7T>C (n.8340-7T>C) c.897-7T>C c.8236-7T>C (n.8236-7T>C) | dbSNP |
13 | g.32370396G>A | CA2727839129 | BRCA2 | c.8332-6G>A (n.8332-6G>A) c.7963-6G>A (n.7963-6G>A) c.799-6G>A (n.799-6G>A) c.8340-6G>A (n.8340-6G>A) c.897-6G>A c.8236-6G>A (n.8236-6G>A) | dbSNP |
13 | g.32370396G>C | CA2727839130 | BRCA2 | c.8332-6G>C (n.8332-6G>C) c.7963-6G>C (n.7963-6G>C) c.799-6G>C (n.799-6G>C) c.8340-6G>C (n.8340-6G>C) c.897-6G>C c.8236-6G>C (n.8236-6G>C) | dbSNP |
13 | g.32370396G= | CA2082812929 | BRCA2 | c.8332-6G= (n.8332-6G=) c.7963-6G= (n.7963-6G=) c.799-6G= (n.799-6G=) c.8340-6G= (n.8340-6G=) c.897-6G= c.8236-6G= (n.8236-6G=) | |
13 | g.32370396G>T | CA025589 | BRCA2 | c.8332-6G>T (n.8332-6G>T) c.7963-6G>T (n.7963-6G>T) c.799-6G>T (n.799-6G>T) c.8340-6G>T (n.8340-6G>T) c.897-6G>T c.8236-6G>T (n.8236-6G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370397T>A | CA2727916118 | BRCA2 | c.8332-5T>A (n.8332-5T>A) c.7963-5T>A (n.7963-5T>A) c.799-5T>A (n.799-5T>A) c.8340-5T>A (n.8340-5T>A) c.897-5T>A c.8236-5T>A (n.8236-5T>A) | dbSNP |
13 | g.32370397T>C | CA2727916119 | BRCA2 | c.8332-5T>C (n.8332-5T>C) c.7963-5T>C (n.7963-5T>C) c.799-5T>C (n.799-5T>C) c.8340-5T>C (n.8340-5T>C) c.897-5T>C c.8236-5T>C (n.8236-5T>C) | dbSNP |
13 | g.32370398C= | CA2082812938 | BRCA2 | c.8332-4C= (n.8332-4C=) c.7963-4C= (n.7963-4C=) c.799-4C= (n.799-4C=) c.8340-4C= (n.8340-4C=) c.897-4C= c.8236-4C= (n.8236-4C=) | |
13 | g.32370398C>G | CA350019 | BRCA2 | c.8332-4C>G (n.8332-4C>G) c.7963-4C>G (n.7963-4C>G) c.799-4C>G (n.799-4C>G) c.8340-4C>G (n.8340-4C>G) c.897-4C>G c.8236-4C>G (n.8236-4C>G) | ClinVar dbSNP gnomAD v4 |
13 | g.32370398C>T | CA6941220 | BRCA2 | c.8332-4C>T (n.8332-4C>T) c.7963-4C>T (n.7963-4C>T) c.799-4C>T (n.799-4C>T) c.8340-4C>T (n.8340-4C>T) c.897-4C>T c.8236-4C>T (n.8236-4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370399C>A | CA10579779 | BRCA2 | c.8332-3C>A (n.8332-3C>A) c.7963-3C>A (n.7963-3C>A) c.799-3C>A (n.799-3C>A) c.8340-3C>A (n.8340-3C>A) c.897-3C>A c.8236-3C>A (n.8236-3C>A) | ClinVar dbSNP |
13 | g.32370399C= | CA2082812947 | BRCA2 | c.8332-3C= (n.8332-3C=) c.7963-3C= (n.7963-3C=) c.799-3C= (n.799-3C=) c.8340-3C= (n.8340-3C=) c.897-3C= c.8236-3C= (n.8236-3C=) | |
13 | g.32370399C>G | CA025586 | BRCA2 | c.8332-3C>G (n.8332-3C>G) c.7963-3C>G (n.7963-3C>G) c.799-3C>G (n.799-3C>G) c.8340-3C>G (n.8340-3C>G) c.897-3C>G c.8236-3C>G (n.8236-3C>G) | ClinVar dbSNP gnomAD v4 |
13 | g.32370399C>T | CA2727839131 | BRCA2 | c.8332-3C>T (n.8332-3C>T) c.7963-3C>T (n.7963-3C>T) c.799-3C>T (n.799-3C>T) c.8340-3C>T (n.8340-3C>T) c.897-3C>T c.8236-3C>T (n.8236-3C>T) | dbSNP |
13 | g.32370402_32370557del | CA2580087346 | BRCA2 | c.8332_8487del c.7963_8118del c.799_954del c.8340_8495del c.897_1052del c.8236_8391del | ClinVar |
13 | g.32370402_32380145del | CA2581463483 | BRCA2 | c.8332_9256del c.8332_*623del c.7963_8887del c.8332_*818del c.8332_9205del c.799_1672del c.8340_9264del c.897_2134del c.8236_9160del | |
13 | g.32370400A= | CA2082812966 | BRCA2 | c.8332-2A= (n.8332-2A=) c.7963-2A= (n.7963-2A=) c.799-2A= (n.799-2A=) c.8340-2A= (n.8340-2A=) c.897-2A= c.8236-2A= (n.8236-2A=) | |
13 | g.32370400A>C | CA387752308 | BRCA2 | c.8332-2A>C (n.8332-2A>C) c.7963-2A>C (n.7963-2A>C) c.799-2A>C (n.799-2A>C) c.8340-2A>C (n.8340-2A>C) c.897-2A>C c.8236-2A>C (n.8236-2A>C) | ClinVar dbSNP |
13 | g.32370400A>G | CA025585 | BRCA2 | c.8332-2A>G (n.8332-2A>G) c.7963-2A>G (n.7963-2A>G) c.799-2A>G (n.799-2A>G) c.8340-2A>G (n.8340-2A>G) c.897-2A>G c.8236-2A>G (n.8236-2A>G) | ClinVar dbSNP |
13 | g.32370400A>T | CA387752311 | BRCA2 | c.8332-2A>T (n.8332-2A>T) c.7963-2A>T (n.7963-2A>T) c.799-2A>T (n.799-2A>T) c.8340-2A>T (n.8340-2A>T) c.897-2A>T c.8236-2A>T (n.8236-2A>T) | dbSNP |
13 | g.32370400dup | CA2499222325 | BRCA2 | c.8332-2dup (n.8332-2dup) c.7963-2dup (n.7963-2dup) c.799-2dup (n.799-2dup) c.8340-2dup (n.8340-2dup) c.897-2dup c.8236-2dup (n.8236-2dup) | ClinVar dbSNP |
13 | g.32370401G>A | CA10602547 | BRCA2 | c.8332-1G>A (n.8332-1G>A) c.7963-1G>A (n.7963-1G>A) c.799-1G>A (n.799-1G>A) c.8340-1G>A (n.8340-1G>A) c.897-1G>A c.8236-1G>A (n.8236-1G>A) | ClinVar dbSNP |
13 | g.32370401G>C | CA025583 | BRCA2 | c.8332-1G>C (n.8332-1G>C) c.7963-1G>C (n.7963-1G>C) c.799-1G>C (n.799-1G>C) c.8340-1G>C (n.8340-1G>C) c.897-1G>C c.8236-1G>C (n.8236-1G>C) | ClinVar dbSNP |
13 | g.32370401G= | CA2082812971 | BRCA2 | c.8332-1G= (n.8332-1G=) c.7963-1G= (n.7963-1G=) c.799-1G= (n.799-1G=) c.8340-1G= (n.8340-1G=) c.897-1G= c.8236-1G= (n.8236-1G=) | |
13 | g.32370401G>T | CA025584 | BRCA2 | c.8332-1G>T (n.8332-1G>T) c.7963-1G>T (n.7963-1G>T) c.799-1G>T (n.799-1G>T) c.8340-1G>T (n.8340-1G>T) c.897-1G>T c.8236-1G>T (n.8236-1G>T) | ClinVar dbSNP |
13 | g.32370401_32370455dup | CA2727916131 | BRCA2 | c.8332-1_8385dup c.7963-1_8016dup c.799-1_852dup c.8340-1_8393dup c.897-1_950dup c.8236-1_8289dup | dbSNP |
13 | g.32370401_32370703dup | CA2499222326 | BRCA2 | c.8332-1_8487+146dup c.7963-1_8118+146dup c.799-1_954+146dup c.8340-1_8495+146dup c.897-1_1052+146dup c.8236-1_8391+146dup | ClinVar |
13 | g.32370402A= | CA2082812987 | BRCA2 | c.8332A= (p.Ile2778=) c.7963A= (p.Ile2655=) c.799A= (p.Ile267=) c.8340A= (n.8340A=) c.897A= c.8236A= (p.Ile2746=) | |
13 | g.32370402A>C | CA387752314 | BRCA2 | c.8332A>C (p.Ile2778Leu) c.7963A>C (p.Ile2655Leu) c.799A>C (p.Ile267Leu) c.8340A>C (n.8340A>C) c.897A>C c.8236A>C (p.Ile2746Leu) | |
13 | g.32370402A>G | CA387752318 | BRCA2 | c.8332A>G (p.Ile2778Val) c.7963A>G (p.Ile2655Val) c.799A>G (p.Ile267Val) c.8340A>G (n.8340A>G) c.897A>G c.8236A>G (p.Ile2746Val) | dbSNP |
13 | g.32370402A>T | CA387752316 | BRCA2 | c.8332A>T (p.Ile2778Phe) c.7963A>T (p.Ile2655Phe) c.799A>T (p.Ile267Phe) c.8340A>T (n.8340A>T) c.897A>T c.8236A>T (p.Ile2746Phe) | |
13 | g.32370402_32370403delinsAT | CA2082812984 | BRCA2 | c.8332_8333delinsAT (p.Ile2778=) c.7963_7964delinsAT (p.Ile2655=) c.799_800delinsAT (p.Ile267=) c.8340_8341delinsAT (n.8340_8341delinsAT) c.897_898delinsAT c.8236_8237delinsAT (p.Ile2746=) | |
13 | g.32370402_32370409del | CA1139768340 | BRCA2 | c.8332_8339del (p.Ile2778Ter) c.7963_7970del (p.Ile2655Ter) c.799_806del (p.Ile267Ter) c.8340_8347del (n.8340_8347del) c.897_904del c.8236_8243del (p.Ile2746Ter) | |
13 | g.32370403T>A | CA387752319 | BRCA2 | c.8333T>A (p.Ile2778Asn) c.7964T>A (p.Ile2655Asn) c.800T>A (p.Ile267Asn) c.8341T>A (n.8341T>A) c.898T>A c.8237T>A (p.Ile2746Asn) | dbSNP COSMIC COSMIC |
13 | g.32370403T>C | CA387752321 | BRCA2 | c.8333T>C (p.Ile2778Thr) c.7964T>C (p.Ile2655Thr) c.800T>C (p.Ile267Thr) c.8341T>C (n.8341T>C) c.898T>C c.8237T>C (p.Ile2746Thr) | dbSNP |
13 | g.32370403T>G | CA387752322 | BRCA2 | c.8333T>G (p.Ile2778Ser) c.7964T>G (p.Ile2655Ser) c.800T>G (p.Ile267Ser) c.8341T>G (n.8341T>G) c.898T>G c.8237T>G (p.Ile2746Ser) | |
13 | g.32370405del | CA919242906 | BRCA2 | c.8335del (p.Ser2779LeufsTer?) c.7966del (p.Ser2656LeufsTer?) c.802del (p.Ser268LeufsTer?) c.8343del (n.8343del) c.900del c.8239del (p.Ser2747LeufsTer?) | dbSNP |
13 | g.32370404T>A | CA483261163 | BRCA2 | c.8334T>A (p.Ile2778=) c.7965T>A (p.Ile2655=) c.801T>A (p.Ile267=) c.8342T>A (n.8342T>A) c.899T>A c.8238T>A (p.Ile2746=) | dbSNP |
13 | g.32370404T>C | CA483261162 | BRCA2 | c.8334T>C (p.Ile2778=) c.7965T>C (p.Ile2655=) c.801T>C (p.Ile267=) c.8342T>C (n.8342T>C) c.899T>C c.8238T>C (p.Ile2746=) | dbSNP |
13 | g.32370404T>G | CA387752324 | BRCA2 | c.8334T>G (p.Ile2778Met) c.7965T>G (p.Ile2655Met) c.801T>G (p.Ile267Met) c.8342T>G (n.8342T>G) c.899T>G c.8238T>G (p.Ile2746Met) | |
13 | g.32370405T>A | CA387752326 | BRCA2 | c.8335T>A (p.Ser2779Thr) c.7966T>A (p.Ser2656Thr) c.802T>A (p.Ser268Thr) c.8343T>A (n.8343T>A) c.900T>A c.8239T>A (p.Ser2747Thr) | |
13 | g.32370405T>C | CA387752327 | BRCA2 | c.8335T>C (p.Ser2779Pro) c.7966T>C (p.Ser2656Pro) c.802T>C (p.Ser268Pro) c.8343T>C (n.8343T>C) c.900T>C c.8239T>C (p.Ser2747Pro) | dbSNP |
13 | g.32370405T>G | CA387752329 | BRCA2 | c.8335T>G (p.Ser2779Ala) c.7966T>G (p.Ser2656Ala) c.802T>G (p.Ser268Ala) c.8343T>G (n.8343T>G) c.900T>G c.8239T>G (p.Ser2747Ala) | |
13 | g.32370406C>A | CA387752331 | BRCA2 | c.8336C>A (p.Ser2779Tyr) c.7967C>A (p.Ser2656Tyr) c.803C>A (p.Ser268Tyr) c.8344C>A (n.8344C>A) c.901C>A c.8240C>A (p.Ser2747Tyr) | |
13 | g.32370406C>G | CA387752332 | BRCA2 | c.8336C>G (p.Ser2779Cys) c.7967C>G (p.Ser2656Cys) c.803C>G (p.Ser268Cys) c.8344C>G (n.8344C>G) c.901C>G c.8240C>G (p.Ser2747Cys) | dbSNP |
13 | g.32370406C>T | CA387752334 | BRCA2 | c.8336C>T (p.Ser2779Phe) c.7967C>T (p.Ser2656Phe) c.803C>T (p.Ser268Phe) c.8344C>T (n.8344C>T) c.901C>T c.8240C>T (p.Ser2747Phe) | ClinVar dbSNP |
13 | g.32370407del | CA2580087349 | BRCA2 | c.8337del (p.Ala2780LeufsTer?) c.7968del (p.Ala2657LeufsTer?) c.804del (p.Ala269LeufsTer?) c.8345del (n.8345del) c.902del c.8241del (p.Ala2748LeufsTer?) | ClinVar |
13 | g.32370407T>A | CA483261164 | BRCA2 | c.8337T>A (p.Ser2779=) c.7968T>A (p.Ser2656=) c.804T>A (p.Ser268=) c.8345T>A (n.8345T>A) c.902T>A c.8241T>A (p.Ser2747=) | dbSNP |
13 | g.32370407T>C | CA483261165 | BRCA2 | c.8337T>C (p.Ser2779=) c.7968T>C (p.Ser2656=) c.804T>C (p.Ser268=) c.8345T>C (n.8345T>C) c.902T>C c.8241T>C (p.Ser2747=) | dbSNP |
13 | g.32370407T>G | CA483261166 | BRCA2 | c.8337T>G (p.Ser2779=) c.7968T>G (p.Ser2656=) c.804T>G (p.Ser268=) c.8345T>G (n.8345T>G) c.902T>G c.8241T>G (p.Ser2747=) | |
13 | g.32370408G>A | CA387752338 | BRCA2 | c.8338G>A (p.Ala2780Thr) c.7969G>A (p.Ala2657Thr) c.805G>A (p.Ala269Thr) c.8346G>A (n.8346G>A) c.903G>A c.8242G>A (p.Ala2748Thr) | |
13 | g.32370408G>C | CA387752339 | BRCA2 | c.8338G>C (p.Ala2780Pro) c.7969G>C (p.Ala2657Pro) c.805G>C (p.Ala269Pro) c.8346G>C (n.8346G>C) c.903G>C c.8242G>C (p.Ala2748Pro) | |
13 | g.32370408G>T | CA387752336 | BRCA2 | c.8338G>T (p.Ala2780Ser) c.7969G>T (p.Ala2657Ser) c.805G>T (p.Ala269Ser) c.8346G>T (n.8346G>T) c.903G>T c.8242G>T (p.Ala2748Ser) | |
13 | g.32370408_32370412delinsGCTAA | CA2082812994 | BRCA2 | c.8338_8342delinsGCTAA (p.Ala2780=) c.7969_7973delinsGCTAA (p.Ala2657=) c.805_809delinsGCTAA (p.Ala269=) c.8346_8350delinsGCTAA (n.8346_8350delinsGCTAA) c.903_907delinsGCTAA c.8242_8246delinsGCTAA (p.Ala2748=) | |
13 | g.32370409C>A | CA387752342 | BRCA2 | c.8339C>A (p.Ala2780Asp) c.7970C>A (p.Ala2657Asp) c.806C>A (p.Ala269Asp) c.8347C>A (n.8347C>A) c.904C>A c.8243C>A (p.Ala2748Asp) | ClinVar dbSNP |
13 | g.32370409C= | CA2082813002 | BRCA2 | c.8339C= (p.Ala2780=) c.7970C= (p.Ala2657=) c.806C= (p.Ala269=) c.8347C= (n.8347C=) c.904C= c.8243C= (p.Ala2748=) | |
13 | g.32370409C>G | CA387752344 | BRCA2 | c.8339C>G (p.Ala2780Gly) c.7970C>G (p.Ala2657Gly) c.806C>G (p.Ala269Gly) c.8347C>G (n.8347C>G) c.904C>G c.8243C>G (p.Ala2748Gly) | dbSNP |
13 | g.32370409C>T | CA387752345 | BRCA2 | c.8339C>T (p.Ala2780Val) c.7970C>T (p.Ala2657Val) c.806C>T (p.Ala269Val) c.8347C>T (n.8347C>T) c.904C>T c.8243C>T (p.Ala2748Val) | dbSNP |
13 | g.32370410_32370413del | CA025590 | BRCA2 | c.8340_8343del (p.Asn2781ValfsTer?) c.7971_7974del (p.Asn2658ValfsTer?) c.807_810del (p.Asn270ValfsTer?) c.8348_8351del (n.8348_8351del) c.905_908del c.8244_8247del (p.Asn2749ValfsTer?) | ClinVar dbSNP |
13 | g.32370410T>A | CA483261167 | BRCA2 | c.8340T>A (p.Ala2780=) c.7971T>A (p.Ala2657=) c.807T>A (p.Ala269=) c.8348T>A (n.8348T>A) c.905T>A c.8244T>A (p.Ala2748=) | |
13 | g.32370410T>C | CA483261168 | BRCA2 | c.8340T>C (p.Ala2780=) c.7971T>C (p.Ala2657=) c.807T>C (p.Ala269=) c.8348T>C (n.8348T>C) c.905T>C c.8244T>C (p.Ala2748=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370410T>G | CA483261169 | BRCA2 | c.8340T>G (p.Ala2780=) c.7971T>G (p.Ala2657=) c.807T>G (p.Ala269=) c.8348T>G (n.8348T>G) c.905T>G c.8244T>G (p.Ala2748=) | ClinVar |
13 | g.32370410T= | CA2082813016 | BRCA2 | c.8340T= (p.Ala2780=) c.7971T= (p.Ala2657=) c.807T= (p.Ala269=) c.8348T= (n.8348T=) c.905T= c.8244T= (p.Ala2748=) | |
13 | g.32370411A>C | CA387752348 | BRCA2 | c.8341A>C (p.Asn2781His) c.7972A>C (p.Asn2658His) c.808A>C (p.Asn270His) c.8349A>C (n.8349A>C) c.906A>C c.8245A>C (p.Asn2749His) | dbSNP |
13 | g.32370411A>G | CA387752349 | BRCA2 | c.8341A>G (p.Asn2781Asp) c.7972A>G (p.Asn2658Asp) c.808A>G (p.Asn270Asp) c.8349A>G (n.8349A>G) c.906A>G c.8245A>G (p.Asn2749Asp) | COSMIC COSMIC |
13 | g.32370411A>T | CA387752351 | BRCA2 | c.8341A>T (p.Asn2781Tyr) c.7972A>T (p.Asn2658Tyr) c.808A>T (p.Asn270Tyr) c.8349A>T (n.8349A>T) c.906A>T c.8245A>T (p.Asn2749Tyr) | dbSNP |
13 | g.32370412del | CA2580087351 | BRCA2 | c.8342del (p.Asn2781ThrfsTer?) c.7973del (p.Asn2658ThrfsTer?) c.809del (p.Asn270ThrfsTer?) c.8350del (n.8350del) c.907del c.8246del (p.Asn2749ThrfsTer?) | ClinVar dbSNP |
13 | g.32370412A= | CA2082813035 | BRCA2 | c.8342A= (p.Asn2781=) c.7973A= (p.Asn2658=) c.809A= (p.Asn270=) c.8350A= (n.8350A=) c.907A= c.8246A= (p.Asn2749=) | |
13 | g.32370412A>C | CA387752352 | BRCA2 | c.8342A>C (p.Asn2781Thr) c.7973A>C (p.Asn2658Thr) c.809A>C (p.Asn270Thr) c.8350A>C (n.8350A>C) c.907A>C c.8246A>C (p.Asn2749Thr) | |
13 | g.32370412A>G | CA387752354 | BRCA2 | c.8342A>G (p.Asn2781Ser) c.7973A>G (p.Asn2658Ser) c.809A>G (p.Asn270Ser) c.8350A>G (n.8350A>G) c.907A>G c.8246A>G (p.Asn2749Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.32370412A>T | CA387752356 | BRCA2 | c.8342A>T (p.Asn2781Ile) c.7973A>T (p.Asn2658Ile) c.809A>T (p.Asn270Ile) c.8350A>T (n.8350A>T) c.907A>T c.8246A>T (p.Asn2749Ile) | ClinVar dbSNP |
13 | g.32370412_32370413delinsAC | CA2082813034 | BRCA2 | c.8342_8343delinsAC (p.Asn2781=) c.7973_7974delinsAC (p.Asn2658=) c.809_810delinsAC (p.Asn270=) c.8350_8351delinsAC (n.8350_8351delinsAC) c.907_908delinsAC c.8246_8247delinsAC (p.Asn2749=) | |
13 | g.32370413del | CA025591 | BRCA2 | c.8343del (p.Asn2781LysfsTer?) c.7974del (p.Asn2658LysfsTer?) c.810del (p.Asn270LysfsTer?) c.8351del (n.8351del) c.908del c.8247del (p.Asn2749LysfsTer?) | ClinVar dbSNP |
13 | g.32370413C>A | CA387752358 | BRCA2 | c.8343C>A (p.Asn2781Lys) c.7974C>A (p.Asn2658Lys) c.810C>A (p.Asn270Lys) c.8351C>A (n.8351C>A) c.908C>A c.8247C>A (p.Asn2749Lys) | |
13 | g.32370413C= | CA2082813053 | BRCA2 | c.8343C= (p.Asn2781=) c.7974C= (p.Asn2658=) c.810C= (p.Asn270=) c.8351C= (n.8351C=) c.908C= c.8247C= (p.Asn2749=) | |
13 | g.32370413C>G | CA387752359 | BRCA2 | c.8343C>G (p.Asn2781Lys) c.7974C>G (p.Asn2658Lys) c.810C>G (p.Asn270Lys) c.8351C>G (n.8351C>G) c.908C>G c.8247C>G (p.Asn2749Lys) | dbSNP |
13 | g.32370413C>T | CA483261170 | BRCA2 | c.8343C>T (p.Asn2781=) c.7974C>T (p.Asn2658=) c.810C>T (p.Asn270=) c.8351C>T (n.8351C>T) c.908C>T c.8247C>T (p.Asn2749=) | ClinVar dbSNP |
13 | g.32370413_32370421delinsCAGTACTCG | CA2082813052 | BRCA2 | c.8343_8351delinsCAGTACTCG (p.Asn2781=) c.7974_7982delinsCAGTACTCG (p.Asn2658=) c.810_818delinsCAGTACTCG (p.Asn270=) c.8351_8359delinsCAGTACTCG (n.8351_8359delinsCAGTACTCG) c.908_916delinsCAGTACTCG c.8247_8255delinsCAGTACTCG (p.Asn2749=) | |
13 | g.32370414A>C | CA387752365 | BRCA2 | c.8344A>C (p.Ser2782Arg) c.7975A>C (p.Ser2659Arg) c.811A>C (p.Ser271Arg) c.8352A>C (n.8352A>C) c.909A>C c.8248A>C (p.Ser2750Arg) | |
13 | g.32370414A>G | CA387752363 | BRCA2 | c.8344A>G (p.Ser2782Gly) c.7975A>G (p.Ser2659Gly) c.811A>G (p.Ser271Gly) c.8352A>G (n.8352A>G) c.909A>G c.8248A>G (p.Ser2750Gly) | ClinVar dbSNP |
13 | g.32370414A>T | CA387752362 | BRCA2 | c.8344A>T (p.Ser2782Cys) c.7975A>T (p.Ser2659Cys) c.811A>T (p.Ser271Cys) c.8352A>T (n.8352A>T) c.909A>T c.8248A>T (p.Ser2750Cys) | dbSNP |
13 | g.32370414_32370421delinsCA | CA16619779 | BRCA2 | c.8344_8351delinsCA (p.Ser2782_Arg2784delinsGln) c.7975_7982delinsCA (p.Ser2659_Arg2661delinsGln) c.811_818delinsCA (p.Ser271_Arg273delinsGln) c.8352_8359delinsCA (n.8352_8359delinsCA) c.909_916delinsCA c.8248_8255delinsCA (p.Ser2750_Arg2752delinsGln) | ClinVar dbSNP |
13 | g.32370415G>A | CA6941221 | BRCA2 | c.8345G>A (p.Ser2782Asn) c.7976G>A (p.Ser2659Asn) c.812G>A (p.Ser271Asn) c.8353G>A (n.8353G>A) c.910G>A c.8249G>A (p.Ser2750Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370415G>C | CA387752367 | BRCA2 | c.8345G>C (p.Ser2782Thr) c.7976G>C (p.Ser2659Thr) c.812G>C (p.Ser271Thr) c.8353G>C (n.8353G>C) c.910G>C c.8249G>C (p.Ser2750Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32370415G= | CA2082813071 | BRCA2 | c.8345G= (p.Ser2782=) c.7976G= (p.Ser2659=) c.812G= (p.Ser271=) c.8353G= (n.8353G=) c.910G= c.8249G= (p.Ser2750=) | |
13 | g.32370415G>T | CA387752369 | BRCA2 | c.8345G>T (p.Ser2782Ile) c.7976G>T (p.Ser2659Ile) c.812G>T (p.Ser271Ile) c.8353G>T (n.8353G>T) c.910G>T c.8249G>T (p.Ser2750Ile) | |
13 | g.32370416T>A | CA387752371 | BRCA2 | c.8346T>A (p.Ser2782Arg) c.7977T>A (p.Ser2659Arg) c.813T>A (p.Ser271Arg) c.8354T>A (n.8354T>A) c.911T>A c.8250T>A (p.Ser2750Arg) | dbSNP |
13 | g.32370416T>C | CA483261171 | BRCA2 | c.8346T>C (p.Ser2782=) c.7977T>C (p.Ser2659=) c.813T>C (p.Ser271=) c.8354T>C (n.8354T>C) c.911T>C c.8250T>C (p.Ser2750=) | dbSNP |
13 | g.32370416T>G | CA387752373 | BRCA2 | c.8346T>G (p.Ser2782Arg) c.7977T>G (p.Ser2659Arg) c.813T>G (p.Ser271Arg) c.8354T>G (n.8354T>G) c.911T>G c.8250T>G (p.Ser2750Arg) | ClinVar dbSNP |
13 | g.32370416T= | CA2082813090 | BRCA2 | c.8346T= (p.Ser2782=) c.7977T= (p.Ser2659=) c.813T= (p.Ser271=) c.8354T= (n.8354T=) c.911T= c.8250T= (p.Ser2750=) | |
13 | g.32370416_32370417delinsTA | CA2082813088 | BRCA2 | c.8346_8347delinsTA (p.Ser2782=) c.7977_7978delinsTA (p.Ser2659=) c.813_814delinsTA (p.Ser271=) c.8354_8355delinsTA (n.8354_8355delinsTA) c.911_912delinsTA c.8250_8251delinsTA (p.Ser2750=) | |
13 | g.32370417del | CA10589486 | BRCA2 | c.8347del (p.Thr2783LeufsTer?) c.7978del (p.Thr2660LeufsTer?) c.814del (p.Thr272LeufsTer?) c.8355del (n.8355del) c.912del c.8251del (p.Thr2751LeufsTer?) | ClinVar dbSNP |
13 | g.32370417A= | CA2082813099 | BRCA2 | c.8347A= (p.Thr2783=) c.7978A= (p.Thr2660=) c.814A= (p.Thr272=) c.8355A= (n.8355A=) c.912A= c.8251A= (p.Thr2751=) | |
13 | g.32370417A>C | CA387752375 | BRCA2 | c.8347A>C (p.Thr2783Pro) c.7978A>C (p.Thr2660Pro) c.814A>C (p.Thr272Pro) c.8355A>C (n.8355A>C) c.912A>C c.8251A>C (p.Thr2751Pro) | dbSNP |
13 | g.32370417A>G | CA16613958 | BRCA2 | c.8347A>G (p.Thr2783Ala) c.7978A>G (p.Thr2660Ala) c.814A>G (p.Thr272Ala) c.8355A>G (n.8355A>G) c.912A>G c.8251A>G (p.Thr2751Ala) | ClinVar dbSNP |
13 | g.32370417A>T | CA387752377 | BRCA2 | c.8347A>T (p.Thr2783Ser) c.7978A>T (p.Thr2660Ser) c.814A>T (p.Thr272Ser) c.8355A>T (n.8355A>T) c.912A>T c.8251A>T (p.Thr2751Ser) | dbSNP |
13 | g.32370417_32370418delinsAC | CA2082813101 | BRCA2 | c.8347_8348delinsAC (p.Thr2783=) c.7978_7979delinsAC (p.Thr2660=) c.814_815delinsAC (p.Thr272=) c.8355_8356delinsAC (n.8355_8356delinsAC) c.912_913delinsAC c.8251_8252delinsAC (p.Thr2751=) | |
13 | g.32370418del | CA10589487 | BRCA2 | c.8348del (p.Thr2783IlefsTer?) c.7979del (p.Thr2660IlefsTer?) c.815del (p.Thr272IlefsTer?) c.8356del (n.8356del) c.913del c.8252del (p.Thr2751IlefsTer?) | ClinVar dbSNP |
13 | g.32370418C>A | CA387752380 | BRCA2 | c.8348C>A (p.Thr2783Asn) c.7979C>A (p.Thr2660Asn) c.815C>A (p.Thr272Asn) c.8356C>A (n.8356C>A) c.913C>A c.8252C>A (p.Thr2751Asn) | ClinVar dbSNP |
13 | g.32370418C= | CA2082813124 | BRCA2 | c.8348C= (p.Thr2783=) c.7979C= (p.Thr2660=) c.815C= (p.Thr272=) c.8356C= (n.8356C=) c.913C= c.8252C= (p.Thr2751=) | |
13 | g.32370418C>G | CA387752382 | BRCA2 | c.8348C>G (p.Thr2783Ser) c.7979C>G (p.Thr2660Ser) c.815C>G (p.Thr272Ser) c.8356C>G (n.8356C>G) c.913C>G c.8252C>G (p.Thr2751Ser) | dbSNP |
13 | g.32370418C>T | CA387752383 | BRCA2 | c.8348C>T (p.Thr2783Ile) c.7979C>T (p.Thr2660Ile) c.815C>T (p.Thr272Ile) c.8356C>T (n.8356C>T) c.913C>T c.8252C>T (p.Thr2751Ile) | ClinVar dbSNP |
13 | g.32370418dup | CA025592 | BRCA2 | c.8348dup (p.Arg2784SerfsTer14) c.7979dup (p.Arg2661SerfsTer14) c.815dup (p.Arg273SerfsTer14) c.8356dup (n.8356dup) c.913dup c.8252dup (p.Arg2752SerfsTer14) | ClinVar dbSNP |
13 | g.32370419T>A | CA483261173 | BRCA2 | c.8349T>A (p.Thr2783=) c.7980T>A (p.Thr2660=) c.816T>A (p.Thr272=) c.8357T>A (n.8357T>A) c.914T>A c.8253T>A (p.Thr2751=) | dbSNP |
13 | g.32370419T>C | CA16607494 | BRCA2 | c.8349T>C (p.Thr2783=) c.7980T>C (p.Thr2660=) c.816T>C (p.Thr272=) c.8357T>C (n.8357T>C) c.914T>C c.8253T>C (p.Thr2751=) | ClinVar dbSNP |
13 | g.32370419T>G | CA483261172 | BRCA2 | c.8349T>G (p.Thr2783=) c.7980T>G (p.Thr2660=) c.816T>G (p.Thr272=) c.8357T>G (n.8357T>G) c.914T>G c.8253T>G (p.Thr2751=) | |
13 | g.32370419T= | CA2082813132 | BRCA2 | c.8349T= (p.Thr2783=) c.7980T= (p.Thr2660=) c.816T= (p.Thr272=) c.8357T= (n.8357T=) c.914T= c.8253T= (p.Thr2751=) | |
13 | g.32370419_32370420delinsTC | CA2082813137 | BRCA2 | c.8349_8350delinsTC (p.Thr2783=) c.7980_7981delinsTC (p.Thr2660=) c.816_817delinsTC (p.Thr272=) c.8357_8358delinsTC (n.8357_8358delinsTC) c.914_915delinsTC c.8253_8254delinsTC (p.Thr2751=) | |
13 | g.32370420del | CA913188593 | BRCA2 | c.8350del (p.Arg2784GlyfsTer?) c.7981del (p.Arg2661GlyfsTer?) c.817del (p.Arg273GlyfsTer?) c.8358del (n.8358del) c.915del c.8254del (p.Arg2752GlyfsTer?) | ClinVar dbSNP |
13 | g.32370420C>A | CA483261174 | BRCA2 | c.8350C>A (p.Arg2784=) c.7981C>A (p.Arg2661=) c.817C>A (p.Arg273=) c.8358C>A (n.8358C>A) c.915C>A c.8254C>A (p.Arg2752=) | ClinVar dbSNP |
13 | g.32370420C= | CA2082813152 | BRCA2 | c.8350C= (p.Arg2784=) c.7981C= (p.Arg2661=) c.817C= (p.Arg273=) c.8358C= (n.8358C=) c.915C= c.8254C= (p.Arg2752=) | |
13 | g.32370420C>G | CA387752384 | BRCA2 | c.8350C>G (p.Arg2784Gly) c.7981C>G (p.Arg2661Gly) c.817C>G (p.Arg273Gly) c.8358C>G (n.8358C>G) c.915C>G c.8254C>G (p.Arg2752Gly) | dbSNP |
13 | g.32370420C>T | CA025593 | BRCA2 | c.8350C>T (p.Arg2784Trp) c.7981C>T (p.Arg2661Trp) c.817C>T (p.Arg273Trp) c.8358C>T (n.8358C>T) c.915C>T c.8254C>T (p.Arg2752Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32370421G>A | CA025594 | BRCA2 | c.8351G>A (p.Arg2784Gln) c.7982G>A (p.Arg2661Gln) c.818G>A (p.Arg273Gln) c.8359G>A (n.8359G>A) c.916G>A c.8255G>A (p.Arg2752Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370421G>C | CA387752387 | BRCA2 | c.8351G>C (p.Arg2784Pro) c.7982G>C (p.Arg2661Pro) c.818G>C (p.Arg273Pro) c.8359G>C (n.8359G>C) c.916G>C c.8255G>C (p.Arg2752Pro) | dbSNP |
13 | g.32370421G= | CA2082813166 | BRCA2 | c.8351G= (p.Arg2784=) c.7982G= (p.Arg2661=) c.818G= (p.Arg273=) c.8359G= (n.8359G=) c.916G= c.8255G= (p.Arg2752=) | |
13 | g.32370421G>T | CA387752389 | BRCA2 | c.8351G>T (p.Arg2784Leu) c.7982G>T (p.Arg2661Leu) c.818G>T (p.Arg273Leu) c.8359G>T (n.8359G>T) c.916G>T c.8255G>T (p.Arg2752Leu) | ClinVar dbSNP |
13 | g.32370422del | CA2695217914 | BRCA2 | c.8352del (p.Pro2785LeufsTer?) c.7983del (p.Pro2662LeufsTer?) c.819del (p.Pro274LeufsTer?) c.8360del (n.8360del) c.917del c.8256del (p.Pro2753LeufsTer?) | |
13 | g.32370422G>A | CA025595 | BRCA2 | c.8352G>A (p.Arg2784=) c.7983G>A (p.Arg2661=) c.819G>A (p.Arg273=) c.8360G>A (n.8360G>A) c.917G>A c.8256G>A (p.Arg2752=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370422G>C | CA483261175 | BRCA2 | c.8352G>C (p.Arg2784=) c.7983G>C (p.Arg2661=) c.819G>C (p.Arg273=) c.8360G>C (n.8360G>C) c.917G>C c.8256G>C (p.Arg2752=) | dbSNP |
13 | g.32370422G= | CA2082813175 | BRCA2 | c.8352G= (p.Arg2784=) c.7983G= (p.Arg2661=) c.819G= (p.Arg273=) c.8360G= (n.8360G=) c.917G= c.8256G= (p.Arg2752=) | |
13 | g.32370422G>T | CA10579780 | BRCA2 | c.8352G>T (p.Arg2784=) c.7983G>T (p.Arg2661=) c.819G>T (p.Arg273=) c.8360G>T (n.8360G>T) c.917G>T c.8256G>T (p.Arg2752=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370423C>A | CA025596 | BRCA2 | c.8353C>A (p.Pro2785Thr) c.7984C>A (p.Pro2662Thr) c.820C>A (p.Pro274Thr) c.8361C>A (n.8361C>A) c.918C>A c.8257C>A (p.Pro2753Thr) | ClinVar dbSNP |
13 | g.32370423C= | CA2082813185 | BRCA2 | c.8353C= (p.Pro2785=) c.7984C= (p.Pro2662=) c.820C= (p.Pro274=) c.8361C= (n.8361C=) c.918C= c.8257C= (p.Pro2753=) | |
13 | g.32370423C>G | CA387752393 | BRCA2 | c.8353C>G (p.Pro2785Ala) c.7984C>G (p.Pro2662Ala) c.820C>G (p.Pro274Ala) c.8361C>G (n.8361C>G) c.918C>G c.8257C>G (p.Pro2753Ala) | ClinVar dbSNP |
13 | g.32370423C>T | CA387752394 | BRCA2 | c.8353C>T (p.Pro2785Ser) c.7984C>T (p.Pro2662Ser) c.820C>T (p.Pro274Ser) c.8361C>T (n.8361C>T) c.918C>T c.8257C>T (p.Pro2753Ser) | dbSNP |
13 | g.32370424C>A | CA387752396 | BRCA2 | c.8354C>A (p.Pro2785His) c.7985C>A (p.Pro2662His) c.821C>A (p.Pro274His) c.8362C>A (n.8362C>A) c.919C>A c.8258C>A (p.Pro2753His) | dbSNP |
13 | g.32370424C= | CA2082813193 | BRCA2 | c.8354C= (p.Pro2785=) c.7985C= (p.Pro2662=) c.821C= (p.Pro274=) c.8362C= (n.8362C=) c.919C= c.8258C= (p.Pro2753=) | |
13 | g.32370424C>G | CA387752397 | BRCA2 | c.8354C>G (p.Pro2785Arg) c.7985C>G (p.Pro2662Arg) c.821C>G (p.Pro274Arg) c.8362C>G (n.8362C>G) c.919C>G c.8258C>G (p.Pro2753Arg) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370424C>T | CA025597 | BRCA2 | c.8354C>T (p.Pro2785Leu) c.7985C>T (p.Pro2662Leu) c.821C>T (p.Pro274Leu) c.8362C>T (n.8362C>T) c.919C>T c.8258C>T (p.Pro2753Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370425T>A | CA483261176 | BRCA2 | c.8355T>A (p.Pro2785=) c.7986T>A (p.Pro2662=) c.822T>A (p.Pro274=) c.8363T>A (n.8363T>A) c.920T>A c.8259T>A (p.Pro2753=) | |
13 | g.32370425T>C | CA16606823 | BRCA2 | c.8355T>C (p.Pro2785=) c.7986T>C (p.Pro2662=) c.822T>C (p.Pro274=) c.8363T>C (n.8363T>C) c.920T>C c.8259T>C (p.Pro2753=) | ClinVar dbSNP gnomAD v4 |
13 | g.32370425T>G | CA483261177 | BRCA2 | c.8355T>G (p.Pro2785=) c.7986T>G (p.Pro2662=) c.822T>G (p.Pro274=) c.8363T>G (n.8363T>G) c.920T>G c.8259T>G (p.Pro2753=) | |
13 | g.32370425T= | CA2082813197 | BRCA2 | c.8355T= (p.Pro2785=) c.7986T= (p.Pro2662=) c.822T= (p.Pro274=) c.8363T= (n.8363T=) c.920T= c.8259T= (p.Pro2753=) | |
13 | g.32370425_32370426delinsTG | CA2082813200 | BRCA2 | c.8355_8356delinsTG (p.Pro2785=) c.7986_7987delinsTG (p.Pro2662=) c.822_823delinsTG (p.Pro274=) c.8363_8364delinsTG (n.8363_8364delinsTG) c.920_921delinsTG c.8259_8260delinsTG (p.Pro2753=) | |
13 | g.32370426del | CA10579781 | BRCA2 | c.8356del (p.Ala2786LeufsTer?) c.7987del (p.Ala2663LeufsTer?) c.823del (p.Ala275LeufsTer?) c.8364del (n.8364del) c.921del c.8260del (p.Ala2754LeufsTer?) | ClinVar dbSNP |
13 | g.32370426G>A | CA025598 | BRCA2 | c.8356G>A (p.Ala2786Thr) c.7987G>A (p.Ala2663Thr) c.823G>A (p.Ala275Thr) c.8364G>A (n.8364G>A) c.921G>A c.8260G>A (p.Ala2754Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370426G>C | CA025599 | BRCA2 | c.8356G>C (p.Ala2786Pro) c.7987G>C (p.Ala2663Pro) c.823G>C (p.Ala275Pro) c.8364G>C (n.8364G>C) c.921G>C c.8260G>C (p.Ala2754Pro) | ClinVar dbSNP |
13 | g.32370426G= | CA2082813215 | BRCA2 | c.8356G= (p.Ala2786=) c.7987G= (p.Ala2663=) c.823G= (p.Ala275=) c.8364G= (n.8364G=) c.921G= c.8260G= (p.Ala2754=) | |
13 | g.32370426G>T | CA387752400 | BRCA2 | c.8356G>T (p.Ala2786Ser) c.7987G>T (p.Ala2663Ser) c.823G>T (p.Ala275Ser) c.8364G>T (n.8364G>T) c.921G>T c.8260G>T (p.Ala2754Ser) | |
13 | g.32370427C>A | CA387752403 | BRCA2 | c.8357C>A (p.Ala2786Asp) c.7988C>A (p.Ala2663Asp) c.824C>A (p.Ala275Asp) c.8365C>A (n.8365C>A) c.922C>A c.8261C>A (p.Ala2754Asp) | ClinVar |
13 | g.32370427C>G | CA387752405 | BRCA2 | c.8357C>G (p.Ala2786Gly) c.7988C>G (p.Ala2663Gly) c.824C>G (p.Ala275Gly) c.8365C>G (n.8365C>G) c.922C>G c.8261C>G (p.Ala2754Gly) | dbSNP |
13 | g.32370427C>T | CA387752406 | BRCA2 | c.8357C>T (p.Ala2786Val) c.7988C>T (p.Ala2663Val) c.824C>T (p.Ala275Val) c.8365C>T (n.8365C>T) c.922C>T c.8261C>T (p.Ala2754Val) | dbSNP |
13 | g.32370428T>A | CA483261178 | BRCA2 | c.8358T>A (p.Ala2786=) c.7989T>A (p.Ala2663=) c.825T>A (p.Ala275=) c.8366T>A (n.8366T>A) c.923T>A c.8262T>A (p.Ala2754=) | dbSNP |
13 | g.32370428T>C | CA483261179 | BRCA2 | c.8358T>C (p.Ala2786=) c.7989T>C (p.Ala2663=) c.825T>C (p.Ala275=) c.8366T>C (n.8366T>C) c.923T>C c.8262T>C (p.Ala2754=) | |
13 | g.32370428T>G | CA483261180 | BRCA2 | c.8358T>G (p.Ala2786=) c.7989T>G (p.Ala2663=) c.825T>G (p.Ala275=) c.8366T>G (n.8366T>G) c.923T>G c.8262T>G (p.Ala2754=) | |
13 | g.32370429C>A | CA387752408 | BRCA2 | c.8359C>A (p.Arg2787Ser) c.7990C>A (p.Arg2664Ser) c.826C>A (p.Arg276Ser) c.8367C>A (n.8367C>A) c.924C>A c.8263C>A (p.Arg2755Ser) | dbSNP |
13 | g.32370429C= | CA2082813230 | BRCA2 | c.8359C= (p.Arg2787=) c.7990C= (p.Arg2664=) c.826C= (p.Arg276=) c.8367C= (n.8367C=) c.924C= c.8263C= (p.Arg2755=) | |
13 | g.32370429C>G | CA387752410 | BRCA2 | c.8359C>G (p.Arg2787Gly) c.7990C>G (p.Arg2664Gly) c.826C>G (p.Arg276Gly) c.8367C>G (n.8367C>G) c.924C>G c.8263C>G (p.Arg2755Gly) | dbSNP |
13 | g.32370429C>T | CA025600 | BRCA2 | c.8359C>T (p.Arg2787Cys) c.7990C>T (p.Arg2664Cys) c.826C>T (p.Arg276Cys) c.8367C>T (n.8367C>T) c.924C>T c.8263C>T (p.Arg2755Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370430G>A | CA025601 | BRCA2 | c.8360G>A (p.Arg2787His) c.7991G>A (p.Arg2664His) c.827G>A (p.Arg276His) c.8368G>A (n.8368G>A) c.925G>A c.8264G>A (p.Arg2755His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32370430G>C | CA387752412 | BRCA2 | c.8360G>C (p.Arg2787Pro) c.7991G>C (p.Arg2664Pro) c.827G>C (p.Arg276Pro) c.8368G>C (n.8368G>C) c.925G>C c.8264G>C (p.Arg2755Pro) | ClinVar dbSNP |
13 | g.32370430G= | CA2082813241 | BRCA2 | c.8360G= (p.Arg2787=) c.7991G= (p.Arg2664=) c.827G= (p.Arg276=) c.8368G= (n.8368G=) c.925G= c.8264G= (p.Arg2755=) | |
13 | g.32370430G>T | CA387752414 | BRCA2 | c.8360G>T (p.Arg2787Leu) c.7991G>T (p.Arg2664Leu) c.827G>T (p.Arg276Leu) c.8368G>T (n.8368G>T) c.925G>T c.8264G>T (p.Arg2755Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32370431C>A | CA483261181 | BRCA2 | c.8361C>A (p.Arg2787=) c.7992C>A (p.Arg2664=) c.828C>A (p.Arg276=) c.8369C>A (n.8369C>A) c.926C>A c.8265C>A (p.Arg2755=) | dbSNP |
13 | g.32370431C= | CA2082813254 | BRCA2 | c.8361C= (p.Arg2787=) c.7992C= (p.Arg2664=) c.828C= (p.Arg276=) c.8369C= (n.8369C=) c.926C= c.8265C= (p.Arg2755=) | |
13 | g.32370431C>G | CA483261182 | BRCA2 | c.8361C>G (p.Arg2787=) c.7992C>G (p.Arg2664=) c.828C>G (p.Arg276=) c.8369C>G (n.8369C>G) c.926C>G c.8265C>G (p.Arg2755=) | ClinVar dbSNP |
13 | g.32370431C>T | CA483261183 | BRCA2 | c.8361C>T (p.Arg2787=) c.7992C>T (p.Arg2664=) c.828C>T (p.Arg276=) c.8369C>T (n.8369C>T) c.926C>T c.8265C>T (p.Arg2755=) | dbSNP |
13 | g.32370431_32370433delinsCTG | CA2082813251 | BRCA2 | c.8361_8363delinsCTG (p.Arg2787=) c.7992_7994delinsCTG (p.Arg2664=) c.828_830delinsCTG (p.Arg276=) c.8369_8371delinsCTG (n.8369_8371delinsCTG) c.926_928delinsCTG c.8265_8267delinsCTG (p.Arg2755=) | |
13 | g.32370432T>A | CA387752416 | BRCA2 | c.8362T>A (p.Trp2788Arg) c.7993T>A (p.Trp2665Arg) c.829T>A (p.Trp277Arg) c.8370T>A (n.8370T>A) c.927T>A c.8266T>A (p.Trp2756Arg) | |
13 | g.32370432T>C | CA025602 | BRCA2 | c.8362T>C (p.Trp2788Arg) c.7993T>C (p.Trp2665Arg) c.829T>C (p.Trp277Arg) c.8370T>C (n.8370T>C) c.927T>C c.8266T>C (p.Trp2756Arg) | ClinVar dbSNP |
13 | g.32370432T>G | CA6941222 | BRCA2 | c.8362T>G (p.Trp2788Gly) c.7993T>G (p.Trp2665Gly) c.829T>G (p.Trp277Gly) c.8370T>G (n.8370T>G) c.927T>G c.8266T>G (p.Trp2756Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370432T= | CA2082813265 | BRCA2 | c.8362T= (p.Trp2788=) c.7993T= (p.Trp2665=) c.829T= (p.Trp277=) c.8370T= (n.8370T=) c.927T= c.8266T= (p.Trp2756=) | |
13 | g.32370432_32370433del | CA10589488 | BRCA2 | c.8362_8363del (p.Trp2788ValfsTer9) c.7993_7994del (p.Trp2665ValfsTer9) c.829_830del (p.Trp277ValfsTer9) c.8370_8371del (n.8370_8371del) c.927_928del c.8266_8267del (p.Trp2756ValfsTer9) | ClinVar dbSNP |
13 | g.32370433G>A | CA025603 | BRCA2 | c.8363G>A (p.Trp2788Ter) c.7994G>A (p.Trp2665Ter) c.830G>A (p.Trp277Ter) c.8371G>A (n.8371G>A) c.928G>A c.8267G>A (p.Trp2756Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32370433G>C | CA025604 | BRCA2 | c.8363G>C (p.Trp2788Ser) c.7994G>C (p.Trp2665Ser) c.830G>C (p.Trp277Ser) c.8371G>C (n.8371G>C) c.928G>C c.8267G>C (p.Trp2756Ser) | ClinVar dbSNP |
13 | g.32370433G= | CA2082813280 | BRCA2 | c.8363G= (p.Trp2788=) c.7994G= (p.Trp2665=) c.830G= (p.Trp277=) c.8371G= (n.8371G=) c.928G= c.8267G= (p.Trp2756=) | |
13 | g.32370433G>T | CA6941223 | BRCA2 | c.8363G>T (p.Trp2788Leu) c.7994G>T (p.Trp2665Leu) c.830G>T (p.Trp277Leu) c.8371G>T (n.8371G>T) c.928G>T c.8267G>T (p.Trp2756Leu) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.32370434G>A | CA025605 | BRCA2 | c.8364G>A (p.Trp2788Ter) c.7995G>A (p.Trp2665Ter) c.831G>A (p.Trp277Ter) c.8372G>A (n.8372G>A) c.929G>A c.8268G>A (p.Trp2756Ter) | ClinVar dbSNP |
13 | g.32370434G>C | CA387752422 | BRCA2 | c.8364G>C (p.Trp2788Cys) c.7995G>C (p.Trp2665Cys) c.831G>C (p.Trp277Cys) c.8372G>C (n.8372G>C) c.929G>C c.8268G>C (p.Trp2756Cys) | ClinVar dbSNP |
13 | g.32370434G= | CA2082813312 | BRCA2 | c.8364G= (p.Trp2788=) c.7995G= (p.Trp2665=) c.831G= (p.Trp277=) c.8372G= (n.8372G=) c.929G= c.8268G= (p.Trp2756=) | |
13 | g.32370434G>T | CA387752424 | BRCA2 | c.8364G>T (p.Trp2788Cys) c.7995G>T (p.Trp2665Cys) c.831G>T (p.Trp277Cys) c.8372G>T (n.8372G>T) c.929G>T c.8268G>T (p.Trp2756Cys) | dbSNP |
13 | g.32370435T>A | CA387752426 | BRCA2 | c.8365T>A (p.Tyr2789Asn) c.7996T>A (p.Tyr2666Asn) c.832T>A (p.Tyr278Asn) c.8373T>A (n.8373T>A) c.930T>A c.8269T>A (p.Tyr2757Asn) | dbSNP |
13 | g.32370435T>C | CA10583141 | BRCA2 | c.8365T>C (p.Tyr2789His) c.7996T>C (p.Tyr2666His) c.832T>C (p.Tyr278His) c.8373T>C (n.8373T>C) c.930T>C c.8269T>C (p.Tyr2757His) | ClinVar dbSNP |
13 | g.32370435T>G | CA387752428 | BRCA2 | c.8365T>G (p.Tyr2789Asp) c.7996T>G (p.Tyr2666Asp) c.832T>G (p.Tyr278Asp) c.8373T>G (n.8373T>G) c.930T>G c.8269T>G (p.Tyr2757Asp) | |
13 | g.32370435T= | CA2082813319 | BRCA2 | c.8365T= (p.Tyr2789=) c.7996T= (p.Tyr2666=) c.832T= (p.Tyr278=) c.8373T= (n.8373T=) c.930T= c.8269T= (p.Tyr2757=) | |
13 | g.32370439_32370440insATATAC | CA2580614685 | BRCA2 | c.8369_8370insATATAC (p.Thr2790_Lys2791insTyrThr) c.8000_8001insATATAC (p.Thr2667_Lys2668insTyrThr) c.836_837insATATAC (p.Thr279_Lys280insTyrThr) c.8377_8378insATATAC (n.8377_8378insATATAC) c.934_935insATATAC c.8273_8274insATATAC (p.Thr2758_Lys2759insTyrThr) | dbSNP |
13 | g.32370436A= | CA2082813334 | BRCA2 | c.8366A= (p.Tyr2789=) c.7997A= (p.Tyr2666=) c.833A= (p.Tyr278=) c.8374A= (n.8374A=) c.931A= c.8270A= (p.Tyr2757=) | |
13 | g.32370436A>C | CA387752430 | BRCA2 | c.8366A>C (p.Tyr2789Ser) c.7997A>C (p.Tyr2666Ser) c.833A>C (p.Tyr278Ser) c.8374A>C (n.8374A>C) c.931A>C c.8270A>C (p.Tyr2757Ser) | |
13 | g.32370436A>G | CA025606 | BRCA2 | c.8366A>G (p.Tyr2789Cys) c.7997A>G (p.Tyr2666Cys) c.833A>G (p.Tyr278Cys) c.8374A>G (n.8374A>G) c.931A>G c.8270A>G (p.Tyr2757Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
13 | g.32370436A>T | CA387752431 | BRCA2 | c.8366A>T (p.Tyr2789Phe) c.7997A>T (p.Tyr2666Phe) c.833A>T (p.Tyr278Phe) c.8374A>T (n.8374A>T) c.931A>T c.8270A>T (p.Tyr2757Phe) | ClinVar dbSNP |
13 | g.32370436dup | CA919242910 | BRCA2 | c.8366dup (p.Tyr2789Ter) c.7997dup (p.Tyr2666Ter) c.833dup (p.Tyr278Ter) c.8374dup (n.8374dup) c.931dup c.8270dup (p.Tyr2757Ter) | ClinVar dbSNP |
13 | g.32370437del | CA2499222327 | BRCA2 | c.8367del (p.Tyr2789Ter) c.7998del (p.Tyr2666Ter) c.834del (p.Tyr278Ter) c.8375del (n.8375del) c.932del c.8271del (p.Tyr2757Ter) | |
13 | g.32370437T>A | CA387752432 | BRCA2 | c.8367T>A (p.Tyr2789Ter) c.7998T>A (p.Tyr2666Ter) c.834T>A (p.Tyr278Ter) c.8375T>A (n.8375T>A) c.932T>A c.8271T>A (p.Tyr2757Ter) | dbSNP |
13 | g.32370437T>C | CA025607 | BRCA2 | c.8367T>C (p.Tyr2789=) c.7998T>C (p.Tyr2666=) c.834T>C (p.Tyr278=) c.8375T>C (n.8375T>C) c.932T>C c.8271T>C (p.Tyr2757=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370437T>G | CA387752433 | BRCA2 | c.8367T>G (p.Tyr2789Ter) c.7998T>G (p.Tyr2666Ter) c.834T>G (p.Tyr278Ter) c.8375T>G (n.8375T>G) c.932T>G c.8271T>G (p.Tyr2757Ter) | dbSNP |
13 | g.32370437T= | CA2082813347 | BRCA2 | c.8367T= (p.Tyr2789=) c.7998T= (p.Tyr2666=) c.834T= (p.Tyr278=) c.8375T= (n.8375T=) c.932T= c.8271T= (p.Tyr2757=) | |
13 | g.32370437_32370439delinsA | CA2695217919 | BRCA2 | c.8367_8369delinsA (p.Tyr2789Ter) c.7998_8000delinsA (p.Tyr2666Ter) c.834_836delinsA (p.Tyr278Ter) c.8375_8377delinsA (n.8375_8377delinsA) c.932_934delinsA c.8271_8273delinsA (p.Tyr2757Ter) | |
13 | g.32370438A= | CA2082813360 | BRCA2 | c.8368A= (p.Thr2790=) c.7999A= (p.Thr2667=) c.835A= (p.Thr279=) c.8376A= (n.8376A=) c.933A= c.8272A= (p.Thr2758=) | |
13 | g.32370438A>C | CA387752435 | BRCA2 | c.8368A>C (p.Thr2790Pro) c.7999A>C (p.Thr2667Pro) c.835A>C (p.Thr279Pro) c.8376A>C (n.8376A>C) c.933A>C c.8272A>C (p.Thr2758Pro) | |
13 | g.32370438A>G | CA387752434 | BRCA2 | c.8368A>G (p.Thr2790Ala) c.7999A>G (p.Thr2667Ala) c.835A>G (p.Thr279Ala) c.8376A>G (n.8376A>G) c.933A>G c.8272A>G (p.Thr2758Ala) | ClinVar dbSNP |
13 | g.32370438A>T | CA025608 | BRCA2 | c.8368A>T (p.Thr2790Ser) c.7999A>T (p.Thr2667Ser) c.835A>T (p.Thr279Ser) c.8376A>T (n.8376A>T) c.933A>T c.8272A>T (p.Thr2758Ser) | ClinVar dbSNP |
13 | g.32370439C>A | CA387752436 | BRCA2 | c.8369C>A (p.Thr2790Asn) c.8000C>A (p.Thr2667Asn) c.836C>A (p.Thr279Asn) c.8377C>A (n.8377C>A) c.934C>A c.8273C>A (p.Thr2758Asn) | ClinVar dbSNP |
13 | g.32370439C= | CA2082813364 | BRCA2 | c.8369C= (p.Thr2790=) c.8000C= (p.Thr2667=) c.836C= (p.Thr279=) c.8377C= (n.8377C=) c.934C= c.8273C= (p.Thr2758=) | |
13 | g.32370439C>G | CA387752437 | BRCA2 | c.8369C>G (p.Thr2790Ser) c.8000C>G (p.Thr2667Ser) c.836C>G (p.Thr279Ser) c.8377C>G (n.8377C>G) c.934C>G c.8273C>G (p.Thr2758Ser) | ClinVar dbSNP |
13 | g.32370439C>T | CA387752438 | BRCA2 | c.8369C>T (p.Thr2790Ile) c.8000C>T (p.Thr2667Ile) c.836C>T (p.Thr279Ile) c.8377C>T (n.8377C>T) c.934C>T c.8273C>T (p.Thr2758Ile) | ClinVar dbSNP gnomAD v4 |
13 | g.32370440C>A | CA483261184 | BRCA2 | c.8370C>A (p.Thr2790=) c.8001C>A (p.Thr2667=) c.837C>A (p.Thr279=) c.8378C>A (n.8378C>A) c.935C>A c.8274C>A (p.Thr2758=) | dbSNP |
13 | g.32370440C>G | CA483261185 | BRCA2 | c.8370C>G (p.Thr2790=) c.8001C>G (p.Thr2667=) c.837C>G (p.Thr279=) c.8378C>G (n.8378C>G) c.935C>G c.8274C>G (p.Thr2758=) | dbSNP |
13 | g.32370440C>T | CA483261186 | BRCA2 | c.8370C>T (p.Thr2790=) c.8001C>T (p.Thr2667=) c.837C>T (p.Thr279=) c.8378C>T (n.8378C>T) c.935C>T c.8274C>T (p.Thr2758=) | ClinVar dbSNP |
13 | g.32370440_32370441delinsATATACCAGCTGGTATACATATACAAATACCAAGTTTGGT | CA2739277517 | BRCA2 | c.8370_8371delinsATATACCAGCTGGTATACATATACAAATACCAAGTTTGGT (p.Lys2791TyrfsTer43) c.8001_8002delinsATATACCAGCTGGTATACATATACAAATACCAAGTTTGGT (p.Lys2668TyrfsTer43) c.837_838delinsATATACCAGCTGGTATACATATACAAATACCAAGTTTGGT (p.Lys280TyrfsTer43) c.8378_8379delinsATATACCAGCTGGTATACATATACAAATACCAAGTTTGGT (n.8378_8379delinsATATACCAGCTGGTATACATATACAAATACCAAGTTTGGT) c.935_936delinsATATACCAGCTGGTATACATATACAAATACCAAGTTTGGT c.8274_8275delinsATATACCAGCTGGTATACATATACAAATACCAAGTTTGGT (p.Lys2759TyrfsTer43) | ClinVar |
13 | g.32370441A>C | CA387752439 | BRCA2 | c.8371A>C (p.Lys2791Gln) c.8002A>C (p.Lys2668Gln) c.838A>C (p.Lys280Gln) c.8379A>C (n.8379A>C) c.936A>C c.8275A>C (p.Lys2759Gln) | |
13 | g.32370441A>G | CA387752440 | BRCA2 | c.8371A>G (p.Lys2791Glu) c.8002A>G (p.Lys2668Glu) c.838A>G (p.Lys280Glu) c.8379A>G (n.8379A>G) c.936A>G c.8275A>G (p.Lys2759Glu) | |
13 | g.32370441A>T | CA387752441 | BRCA2 | c.8371A>T (p.Lys2791Ter) c.8002A>T (p.Lys2668Ter) c.838A>T (p.Lys280Ter) c.8379A>T (n.8379A>T) c.936A>T c.8275A>T (p.Lys2759Ter) | |
13 | g.32370443del | CA2697551787 | BRCA2 | c.8373del (p.Lys2791AsnfsTer30) c.8004del (p.Lys2668AsnfsTer30) c.840del (p.Lys280AsnfsTer30) c.8381del (n.8381del) c.938del c.8277del (p.Lys2759AsnfsTer30) | ClinVar |
13 | g.32370441_32370442insGCTGGTATACATATACAAATACCAAGTTTGGT | CA2499222328 | BRCA2 | c.8371_8372insGCTGGTATACATATACAAATACCAAGTTTGGT (p.Lys2791SerfsTer41) c.8002_8003insGCTGGTATACATATACAAATACCAAGTTTGGT (p.Lys2668SerfsTer41) c.838_839insGCTGGTATACATATACAAATACCAAGTTTGGT (p.Lys280SerfsTer41) c.8379_8380insGCTGGTATACATATACAAATACCAAGTTTGGT (n.8379_8380insGCTGGTATACATATACAAATACCAAGTTTGGT) c.936_937insGCTGGTATACATATACAAATACCAAGTTTGGT c.8275_8276insGCTGGTATACATATACAAATACCAAGTTTGGT (p.Lys2759SerfsTer41) | dbSNP |
13 | g.32370442A>C | CA387752442 | BRCA2 | c.8372A>C (p.Lys2791Thr) c.8003A>C (p.Lys2668Thr) c.839A>C (p.Lys280Thr) c.8380A>C (n.8380A>C) c.937A>C c.8276A>C (p.Lys2759Thr) | |
13 | g.32370442A>G | CA387752443 | BRCA2 | c.8372A>G (p.Lys2791Arg) c.8003A>G (p.Lys2668Arg) c.839A>G (p.Lys280Arg) c.8380A>G (n.8380A>G) c.937A>G c.8276A>G (p.Lys2759Arg) | ClinVar dbSNP |
13 | g.32370442A>T | CA387752444 | BRCA2 | c.8372A>T (p.Lys2791Ile) c.8003A>T (p.Lys2668Ile) c.839A>T (p.Lys280Ile) c.8380A>T (n.8380A>T) c.937A>T c.8276A>T (p.Lys2759Ile) | dbSNP |
13 | g.32370443A= | CA2082813371 | BRCA2 | c.8373A= (p.Lys2791=) c.8004A= (p.Lys2668=) c.840A= (p.Lys280=) c.8381A= (n.8381A=) c.938A= c.8277A= (p.Lys2759=) | |
13 | g.32370443A>C | CA387752445 | BRCA2 | c.8373A>C (p.Lys2791Asn) c.8004A>C (p.Lys2668Asn) c.840A>C (p.Lys280Asn) c.8381A>C (n.8381A>C) c.938A>C c.8277A>C (p.Lys2759Asn) | dbSNP |
13 | g.32370443A>G | CA6941224 | BRCA2 | c.8373A>G (p.Lys2791=) c.8004A>G (p.Lys2668=) c.840A>G (p.Lys280=) c.8381A>G (n.8381A>G) c.938A>G c.8277A>G (p.Lys2759=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370443A>T | CA387752446 | BRCA2 | c.8373A>T (p.Lys2791Asn) c.8004A>T (p.Lys2668Asn) c.840A>T (p.Lys280Asn) c.8381A>T (n.8381A>T) c.938A>T c.8277A>T (p.Lys2759Asn) | dbSNP |
13 | g.32370443_32370444delinsAC | CA2082813370 | BRCA2 | c.8373_8374delinsAC (p.Lys2791=) c.8004_8005delinsAC (p.Lys2668=) c.840_841delinsAC (p.Lys280=) c.8381_8382delinsAC (n.8381_8382delinsAC) c.938_939delinsAC c.8277_8278delinsAC (p.Lys2759=) | |
13 | g.32370443_32370454delinsACTTGGATTCTT | CA2082813380 | BRCA2 | c.8373_8384delinsACTTGGATTCTT (p.Lys2791=) c.8004_8015delinsACTTGGATTCTT (p.Lys2668=) c.840_851delinsACTTGGATTCTT (p.Lys280=) c.8381_8392delinsACTTGGATTCTT (n.8381_8392delinsACTTGGATTCTT) c.938_949delinsACTTGGATTCTT c.8277_8288delinsACTTGGATTCTT (p.Lys2759=) | |
13 | g.32370444del | CA025611 | BRCA2 | c.8374del (p.Gly2793AspfsTer28) c.8005del (p.Gly2670AspfsTer28) c.841del (p.Gly282AspfsTer28) c.8382del (n.8382del) c.939del c.8278del (p.Gly2761AspfsTer28) | ClinVar dbSNP |
13 | g.32370444C>A | CA387752448 | BRCA2 | c.8374C>A (p.Leu2792Ile) c.8005C>A (p.Leu2669Ile) c.841C>A (p.Leu281Ile) c.8382C>A (n.8382C>A) c.939C>A c.8278C>A (p.Leu2760Ile) | COSMIC COSMIC |
13 | g.32370444C= | CA2082813409 | BRCA2 | c.8374C= (p.Leu2792=) c.8005C= (p.Leu2669=) c.841C= (p.Leu281=) c.8382C= (n.8382C=) c.939C= c.8278C= (p.Leu2760=) | |
13 | g.32370444C>G | CA387752447 | BRCA2 | c.8374C>G (p.Leu2792Val) c.8005C>G (p.Leu2669Val) c.841C>G (p.Leu281Val) c.8382C>G (n.8382C>G) c.939C>G c.8278C>G (p.Leu2760Val) | dbSNP |
13 | g.32370444C>T | CA025610 | BRCA2 | c.8374C>T (p.Leu2792Phe) c.8005C>T (p.Leu2669Phe) c.841C>T (p.Leu281Phe) c.8382C>T (n.8382C>T) c.939C>T c.8278C>T (p.Leu2760Phe) | ClinVar dbSNP |
13 | g.32370444_32370454delinsA | CA10589489 | BRCA2 | c.8374_8384delinsA (p.Leu2792IlefsTer26) c.8005_8015delinsA (p.Leu2669IlefsTer26) c.841_851delinsA (p.Leu281IlefsTer26) c.8382_8392delinsA (n.8382_8392delinsA) c.939_949delinsA c.8278_8288delinsA (p.Leu2760IlefsTer26) | ClinVar dbSNP |
13 | g.32370444_32370454delinsAAG | CA658823575 | BRCA2 | c.8374_8384delinsAAG (p.Leu2792LysfsTer3) c.8005_8015delinsAAG (p.Leu2669LysfsTer3) c.841_851delinsAAG (p.Leu281LysfsTer3) c.8382_8392delinsAAG (n.8382_8392delinsAAG) c.939_949delinsAAG c.8278_8288delinsAAG (p.Leu2760LysfsTer3) | ClinVar dbSNP |
13 | g.32370444_32370454delinsAGG | CA658653814 | BRCA2 | c.8374_8384delinsAGG (p.Leu2792ArgfsTer3) c.8005_8015delinsAGG (p.Leu2669ArgfsTer3) c.841_851delinsAGG (p.Leu281ArgfsTer3) c.8382_8392delinsAGG (n.8382_8392delinsAGG) c.939_949delinsAGG c.8278_8288delinsAGG (p.Leu2760ArgfsTer3) | ClinVar dbSNP |
13 | g.32370445T>A | CA387752449 | BRCA2 | c.8375T>A (p.Leu2792His) c.8006T>A (p.Leu2669His) c.842T>A (p.Leu281His) c.8383T>A (n.8383T>A) c.940T>A c.8279T>A (p.Leu2760His) | dbSNP |
13 | g.32370445T>C | CA025612 | BRCA2 | c.8375T>C (p.Leu2792Pro) c.8006T>C (p.Leu2669Pro) c.842T>C (p.Leu281Pro) c.8383T>C (n.8383T>C) c.940T>C c.8279T>C (p.Leu2760Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370445T>G | CA387752450 | BRCA2 | c.8375T>G (p.Leu2792Arg) c.8006T>G (p.Leu2669Arg) c.842T>G (p.Leu281Arg) c.8383T>G (n.8383T>G) c.940T>G c.8279T>G (p.Leu2760Arg) | ClinVar dbSNP |
13 | g.32370445T= | CA2082813422 | BRCA2 | c.8375T= (p.Leu2792=) c.8006T= (p.Leu2669=) c.842T= (p.Leu281=) c.8383T= (n.8383T=) c.940T= c.8279T= (p.Leu2760=) | |
13 | g.32370446T>A | CA483261187 | BRCA2 | c.8376T>A (p.Leu2792=) c.8007T>A (p.Leu2669=) c.843T>A (p.Leu281=) c.8384T>A (n.8384T>A) c.941T>A c.8280T>A (p.Leu2760=) | |
13 | g.32370446T>C | CA483261189 | BRCA2 | c.8376T>C (p.Leu2792=) c.8007T>C (p.Leu2669=) c.843T>C (p.Leu281=) c.8384T>C (n.8384T>C) c.941T>C c.8280T>C (p.Leu2760=) | |
13 | g.32370446T>G | CA483261188 | BRCA2 | c.8376T>G (p.Leu2792=) c.8007T>G (p.Leu2669=) c.843T>G (p.Leu281=) c.8384T>G (n.8384T>G) c.941T>G c.8280T>G (p.Leu2760=) | gnomAD v4 |
13 | g.32370447G>A | CA025613 | BRCA2 | c.8377G>A (p.Gly2793Arg) c.8008G>A (p.Gly2670Arg) c.844G>A (p.Gly282Arg) c.8385G>A (n.8385G>A) c.942G>A c.8281G>A (p.Gly2761Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370447G>C | CA387752451 | BRCA2 | c.8377G>C (p.Gly2793Arg) c.8008G>C (p.Gly2670Arg) c.844G>C (p.Gly282Arg) c.8385G>C (n.8385G>C) c.942G>C c.8281G>C (p.Gly2761Arg) | dbSNP |
13 | g.32370447G= | CA2082813438 | BRCA2 | c.8377G= (p.Gly2793=) c.8008G= (p.Gly2670=) c.844G= (p.Gly282=) c.8385G= (n.8385G=) c.942G= c.8281G= (p.Gly2761=) | |
13 | g.32370447G>T | CA10586588 | BRCA2 | c.8377G>T (p.Gly2793Ter) c.8008G>T (p.Gly2670Ter) c.844G>T (p.Gly282Ter) c.8385G>T (n.8385G>T) c.942G>T c.8281G>T (p.Gly2761Ter) | ClinVar dbSNP |
13 | g.32370447_32370448delinsGG | CA2082813440 | BRCA2 | c.8377_8378delinsGG (p.Gly2793=) c.8008_8009delinsGG (p.Gly2670=) c.844_845delinsGG (p.Gly282=) c.8385_8386delinsGG (n.8385_8386delinsGG) c.942_943delinsGG c.8281_8282delinsGG (p.Gly2761=) | |
13 | g.32370448dup | CA2580087358 | BRCA2 | c.8378dup (p.Phe2794IlefsTer4) c.8009dup (p.Phe2671IlefsTer4) c.845dup (p.Phe283IlefsTer4) c.8386dup (n.8386dup) c.943dup c.8282dup (p.Phe2762IlefsTer4) | ClinVar |
13 | g.32370448G>A | CA025614 | BRCA2 | c.8378G>A (p.Gly2793Glu) c.8009G>A (p.Gly2670Glu) c.845G>A (p.Gly282Glu) c.8386G>A (n.8386G>A) c.943G>A c.8282G>A (p.Gly2761Glu) | ClinVar dbSNP gnomAD v4 |
13 | g.32370448G>C | CA387752452 | BRCA2 | c.8378G>C (p.Gly2793Ala) c.8009G>C (p.Gly2670Ala) c.845G>C (p.Gly282Ala) c.8386G>C (n.8386G>C) c.943G>C c.8282G>C (p.Gly2761Ala) | dbSNP |
13 | g.32370448G= | CA2082813467 | BRCA2 | c.8378G= (p.Gly2793=) c.8009G= (p.Gly2670=) c.845G= (p.Gly282=) c.8386G= (n.8386G=) c.943G= c.8282G= (p.Gly2761=) | |
13 | g.32370448G>T | CA025615 | BRCA2 | c.8378G>T (p.Gly2793Val) c.8009G>T (p.Gly2670Val) c.845G>T (p.Gly282Val) c.8386G>T (n.8386G>T) c.943G>T c.8282G>T (p.Gly2761Val) | ClinVar dbSNP |
13 | g.32370448delinsAA | CA10586589 | BRCA2 | c.8378delinsAA (p.Gly2793GlufsTer5) c.8009delinsAA (p.Gly2670GlufsTer5) c.845delinsAA (p.Gly282GlufsTer5) c.8386delinsAA (n.8386delinsAA) c.943delinsAA c.8282delinsAA (p.Gly2761GlufsTer5) | ClinVar dbSNP |
13 | g.32370449A= | CA2082813475 | BRCA2 | c.8379A= (p.Gly2793=) c.8010A= (p.Gly2670=) c.846A= (p.Gly282=) c.8387A= (n.8387A=) c.944A= c.8283A= (p.Gly2761=) | |
13 | g.32370449A>C | CA483261190 | BRCA2 | c.8379A>C (p.Gly2793=) c.8010A>C (p.Gly2670=) c.846A>C (p.Gly282=) c.8387A>C (n.8387A>C) c.944A>C c.8283A>C (p.Gly2761=) | dbSNP |
13 | g.32370449A>G | CA483261191 | BRCA2 | c.8379A>G (p.Gly2793=) c.8010A>G (p.Gly2670=) c.846A>G (p.Gly282=) c.8387A>G (n.8387A>G) c.944A>G c.8283A>G (p.Gly2761=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32370449A>T | CA483261192 | BRCA2 | c.8379A>T (p.Gly2793=) c.8010A>T (p.Gly2670=) c.846A>T (p.Gly282=) c.8387A>T (n.8387A>T) c.944A>T c.8283A>T (p.Gly2761=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32370450T>A | CA387752453 | BRCA2 | c.8380T>A (p.Phe2794Ile) c.8011T>A (p.Phe2671Ile) c.847T>A (p.Phe283Ile) c.8388T>A (n.8388T>A) c.945T>A c.8284T>A (p.Phe2762Ile) | ClinVar dbSNP |
13 | g.32370450T>C | CA387752454 | BRCA2 | c.8380T>C (p.Phe2794Leu) c.8011T>C (p.Phe2671Leu) c.847T>C (p.Phe283Leu) c.8388T>C (n.8388T>C) c.945T>C c.8284T>C (p.Phe2762Leu) | |
13 | g.32370450T>G | CA387752455 | BRCA2 | c.8380T>G (p.Phe2794Val) c.8011T>G (p.Phe2671Val) c.847T>G (p.Phe283Val) c.8388T>G (n.8388T>G) c.945T>G c.8284T>G (p.Phe2762Val) | |
13 | g.32370450T= | CA2082813483 | BRCA2 | c.8380T= (p.Phe2794=) c.8011T= (p.Phe2671=) c.847T= (p.Phe283=) c.8388T= (n.8388T=) c.945T= c.8284T= (p.Phe2762=) | |
13 | g.32370451T>A | CA387752458 | BRCA2 | c.8381T>A (p.Phe2794Tyr) c.8012T>A (p.Phe2671Tyr) c.848T>A (p.Phe283Tyr) c.8389T>A (n.8389T>A) c.946T>A c.8285T>A (p.Phe2762Tyr) | dbSNP |
13 | g.32370451T>C | CA387752456 | BRCA2 | c.8381T>C (p.Phe2794Ser) c.8012T>C (p.Phe2671Ser) c.848T>C (p.Phe283Ser) c.8389T>C (n.8389T>C) c.946T>C c.8285T>C (p.Phe2762Ser) | dbSNP |
13 | g.32370451T>G | CA387752457 | BRCA2 | c.8381T>G (p.Phe2794Cys) c.8012T>G (p.Phe2671Cys) c.848T>G (p.Phe283Cys) c.8389T>G (n.8389T>G) c.946T>G c.8285T>G (p.Phe2762Cys) | |
13 | g.32370452C>A | CA387752459 | BRCA2 | c.8382C>A (p.Phe2794Leu) c.8013C>A (p.Phe2671Leu) c.849C>A (p.Phe283Leu) c.8390C>A (n.8390C>A) c.947C>A c.8286C>A (p.Phe2762Leu) | |
13 | g.32370452C= | CA2082813485 | BRCA2 | c.8382C= (p.Phe2794=) c.8013C= (p.Phe2671=) c.849C= (p.Phe283=) c.8390C= (n.8390C=) c.947C= c.8286C= (p.Phe2762=) | |
13 | g.32370452C>G | CA025617 | BRCA2 | c.8382C>G (p.Phe2794Leu) c.8013C>G (p.Phe2671Leu) c.849C>G (p.Phe283Leu) c.8390C>G (n.8390C>G) c.947C>G c.8286C>G (p.Phe2762Leu) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.32370452C>T | CA483261193 | BRCA2 | c.8382C>T (p.Phe2794=) c.8013C>T (p.Phe2671=) c.849C>T (p.Phe283=) c.8390C>T (n.8390C>T) c.947C>T c.8286C>T (p.Phe2762=) | dbSNP |
13 | g.32370452_32370453delinsCT | CA2082813489 | BRCA2 | c.8382_8383delinsCT (p.Phe2794=) c.8013_8014delinsCT (p.Phe2671=) c.849_850delinsCT (p.Phe283=) c.8390_8391delinsCT (n.8390_8391delinsCT) c.947_948delinsCT c.8286_8287delinsCT (p.Phe2762=) | |
13 | g.32370453T>A | CA6941225 | BRCA2 | c.8383T>A (p.Phe2795Ile) c.8014T>A (p.Phe2672Ile) c.850T>A (p.Phe284Ile) c.8391T>A (n.8391T>A) c.948T>A c.8287T>A (p.Phe2763Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370453T>C | CA387752460 | BRCA2 | c.8383T>C (p.Phe2795Leu) c.8014T>C (p.Phe2672Leu) c.850T>C (p.Phe284Leu) c.8391T>C (n.8391T>C) c.948T>C c.8287T>C (p.Phe2763Leu) | dbSNP |
13 | g.32370453T>G | CA387752461 | BRCA2 | c.8383T>G (p.Phe2795Val) c.8014T>G (p.Phe2672Val) c.850T>G (p.Phe284Val) c.8391T>G (n.8391T>G) c.948T>G c.8287T>G (p.Phe2763Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32370453T= | CA2082813505 | BRCA2 | c.8383T= (p.Phe2795=) c.8014T= (p.Phe2672=) c.850T= (p.Phe284=) c.8391T= (n.8391T=) c.948T= c.8287T= (p.Phe2763=) | |
13 | g.32370455del | CA10589490 | BRCA2 | c.8385del (p.Pro2796LeufsTer25) c.8016del (p.Pro2673LeufsTer25) c.852del (p.Pro285LeufsTer25) c.8393del (n.8393del) c.950del c.8289del (p.Pro2764LeufsTer25) | ClinVar dbSNP |
13 | g.32370453_32370465delinsTTTCCTGACCCTA | CA2082813502 | BRCA2 | c.8383_8395delinsTTTCCTGACCCTA (p.Phe2795=) c.8014_8026delinsTTTCCTGACCCTA (p.Phe2672=) c.850_862delinsTTTCCTGACCCTA (p.Phe284=) c.8391_8403delinsTTTCCTGACCCTA (n.8391_8403delinsTTTCCTGACCCTA) c.948_960delinsTTTCCTGACCCTA c.8287_8299delinsTTTCCTGACCCTA (p.Phe2763=) |