| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32339338_32339342delinsTTCAG | CA2082817828 | BRCA2 | c.4983_4987delinsTTCAG (p.Tyr1661=) c.4614_4618delinsTTCAG (p.Tyr1538=) n.4983_4987delinsTTCAG | |
| 13 | g.32339342_32339345del | CA021107 | BRCA2 | c.4987_4990del (p.Val1663LeufsTer6) c.4618_4621del (p.Val1540LeufsTer6) n.4987_4990del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339340_32339342delinsCAG | CA2082817850 | BRCA2 | c.4985_4987delinsCAG (p.Ser1662=) c.4616_4618delinsCAG (p.Ser1539=) n.4985_4987delinsCAG | |
| 13 | g.32339341_32339342del | CA919242668 | BRCA2 | c.4986_4987del (p.Val1663HisfsTer2) c.4617_4618del (p.Val1540HisfsTer2) n.4986_4987del | dbSNP |
| 13 | g.32339342G>A | CA387783882 | BRCA2 | c.4987G>A (p.Val1663Ile) c.4618G>A (p.Val1540Ile) n.4987G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339342G>C | CA021111 | BRCA2 | c.4987G>C (p.Val1663Leu) c.4618G>C (p.Val1540Leu) n.4987G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339342G= | CA2082817892 | BRCA2 | c.4987G= (p.Val1663=) c.4618G= (p.Val1540=) n.4987G= | |
| 13 | g.32339342G>T | CA6940836 | BRCA2 | c.4987G>T (p.Val1663Phe) c.4618G>T (p.Val1540Phe) n.4987G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339343T>A | CA387783884 | BRCA2 | c.4988T>A (p.Val1663Asp) c.4619T>A (p.Val1540Asp) n.4988T>A | dbSNP |
| 13 | g.32339343T>C | CA16614162 | BRCA2 | c.4988T>C (p.Val1663Ala) c.4619T>C (p.Val1540Ala) n.4988T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339343T>G | CA387783885 | BRCA2 | c.4988T>G (p.Val1663Gly) c.4619T>G (p.Val1540Gly) n.4988T>G | |
| 13 | g.32339343T= | CA2082817902 | BRCA2 | c.4988T= (p.Val1663=) c.4619T= (p.Val1540=) n.4988T= | |
| 13 | g.32339344C>A | CA483438318 | BRCA2 | c.4989C>A (p.Val1663=) c.4620C>A (p.Val1540=) n.4989C>A | dbSNP gnomAD v4 |
| 13 | g.32339344C>G | CA483438319 | BRCA2 | c.4989C>G (p.Val1663=) c.4620C>G (p.Val1540=) n.4989C>G | |
| 13 | g.32339344C>T | CA483438320 | BRCA2 | c.4989C>T (p.Val1663=) c.4620C>T (p.Val1540=) n.4989C>T | dbSNP |
| 13 | g.32339344_32339346delinsCAT | CA2082817909 | BRCA2 | c.4989_4991delinsCAT (p.Val1663=) c.4620_4622delinsCAT (p.Val1540=) n.4989_4991delinsCAT | |
| 13 | g.32339345A= | CA2082817917 | BRCA2 | c.4990A= (p.Ile1664=) c.4621A= (p.Ile1541=) n.4990A= | |
| 13 | g.32339345A>C | CA387783887 | BRCA2 | c.4990A>C (p.Ile1664Leu) c.4621A>C (p.Ile1541Leu) n.4990A>C | |
| 13 | g.32339345A>G | CA387783889 | BRCA2 | c.4990A>G (p.Ile1664Val) c.4621A>G (p.Ile1541Val) n.4990A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339345A>T | CA387783888 | BRCA2 | c.4990A>T (p.Ile1664Phe) c.4621A>T (p.Ile1541Phe) n.4990A>T | |
| 13 | g.32339345_32339346del | CA021114 | BRCA2 | c.4990_4991del (p.Ile1664Ter) c.4621_4622del (p.Ile1541Ter) n.4990_4991del | ClinVar dbSNP |
| 13 | g.32339346T>A | CA387783890 | BRCA2 | c.4991T>A (p.Ile1664Asn) c.4622T>A (p.Ile1541Asn) n.4991T>A | dbSNP |
| 13 | g.32339346T>C | CA338267 | BRCA2 | c.4991T>C (p.Ile1664Thr) c.4622T>C (p.Ile1541Thr) n.4991T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339346T>G | CA387783891 | BRCA2 | c.4991T>G (p.Ile1664Ser) c.4622T>G (p.Ile1541Ser) n.4991T>G | |
| 13 | g.32339346T= | CA2082817921 | BRCA2 | c.4991T= (p.Ile1664=) c.4622T= (p.Ile1541=) n.4991T= | |
| 13 | g.32339347T>A | CA483438323 | BRCA2 | c.4992T>A (p.Ile1664=) c.4623T>A (p.Ile1541=) n.4992T>A | dbSNP |
| 13 | g.32339347T>C | CA483438322 | BRCA2 | c.4992T>C (p.Ile1664=) c.4623T>C (p.Ile1541=) n.4992T>C | dbSNP |
| 13 | g.32339347T>G | CA387783892 | BRCA2 | c.4992T>G (p.Ile1664Met) c.4623T>G (p.Ile1541Met) n.4992T>G | |
| 13 | g.32339348G>A | CA387783894 | BRCA2 | c.4993G>A (p.Glu1665Lys) c.4624G>A (p.Glu1542Lys) n.4993G>A | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339348G>C | CA387783896 | BRCA2 | c.4993G>C (p.Glu1665Gln) c.4624G>C (p.Glu1542Gln) n.4993G>C | ClinVar dbSNP COSMIC |
| 13 | g.32339348G= | CA2082817927 | BRCA2 | c.4993G= (p.Glu1665=) c.4624G= (p.Glu1542=) n.4993G= | |
| 13 | g.32339348G>T | CA387783897 | BRCA2 | c.4993G>T (p.Glu1665Ter) c.4624G>T (p.Glu1542Ter) n.4993G>T | |
| 13 | g.32339349A= | CA2082817938 | BRCA2 | c.4994A= (p.Glu1665=) c.4625A= (p.Glu1542=) n.4994A= | |
| 13 | g.32339349A>C | CA387783898 | BRCA2 | c.4994A>C (p.Glu1665Ala) c.4625A>C (p.Glu1542Ala) n.4994A>C | dbSNP |
| 13 | g.32339349A>G | CA6940837 | BRCA2 | c.4994A>G (p.Glu1665Gly) c.4625A>G (p.Glu1542Gly) n.4994A>G | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32339349A>T | CA387783899 | BRCA2 | c.4994A>T (p.Glu1665Val) c.4625A>T (p.Glu1542Val) n.4994A>T | dbSNP |
| 13 | g.32339352del | CA2580087321 | BRCA2 | c.4997del (p.Asn1666IlefsTer4) c.4628del (p.Asn1543IlefsTer4) n.4997del | ClinVar |
| 13 | g.32339350A>C | CA387783901 | BRCA2 | c.4995A>C (p.Glu1665Asp) c.4626A>C (p.Glu1542Asp) n.4995A>C | |
| 13 | g.32339350A>G | CA483438325 | BRCA2 | c.4995A>G (p.Glu1665=) c.4626A>G (p.Glu1542=) n.4995A>G | dbSNP |
| 13 | g.32339350A>T | CA387783900 | BRCA2 | c.4995A>T (p.Glu1665Asp) c.4626A>T (p.Glu1542Asp) n.4995A>T | dbSNP |
| 13 | g.32339351A= | CA2082817952 | BRCA2 | c.4996A= (p.Asn1666=) c.4627A= (p.Asn1543=) n.4996A= | |
| 13 | g.32339351A>C | CA387783902 | BRCA2 | c.4996A>C (p.Asn1666His) c.4627A>C (p.Asn1543His) n.4996A>C | |
| 13 | g.32339351A>G | CA6940838 | BRCA2 | c.4996A>G (p.Asn1666Asp) c.4627A>G (p.Asn1543Asp) n.4996A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339351A>T | CA387783904 | BRCA2 | c.4996A>T (p.Asn1666Tyr) c.4627A>T (p.Asn1543Tyr) n.4996A>T | dbSNP |
| 13 | g.32339352A= | CA2082817956 | BRCA2 | c.4997A= (p.Asn1666=) c.4628A= (p.Asn1543=) n.4997A= | |
| 13 | g.32339352A>C | CA387783906 | BRCA2 | c.4997A>C (p.Asn1666Thr) c.4628A>C (p.Asn1543Thr) n.4997A>C | dbSNP |
| 13 | g.32339352A>G | CA387783908 | BRCA2 | c.4997A>G (p.Asn1666Ser) c.4628A>G (p.Asn1543Ser) n.4997A>G | ClinVar dbSNP |
| 13 | g.32339352A>T | CA387783910 | BRCA2 | c.4997A>T (p.Asn1666Ile) c.4628A>T (p.Asn1543Ile) n.4997A>T | dbSNP |
| 13 | g.32339353T>A | CA387783911 | BRCA2 | c.4998T>A (p.Asn1666Lys) c.4629T>A (p.Asn1543Lys) n.4998T>A | dbSNP |
| 13 | g.32339353T>C | CA483438327 | BRCA2 | c.4998T>C (p.Asn1666=) c.4629T>C (p.Asn1543=) n.4998T>C | dbSNP gnomAD v4 |