| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32339554_32340264del | CA2580087342 | BRCA2 | c.5199_5909del (p.Glu1734_Ser1970del) c.4830_5540del (p.Glu1611_Ser1847del) n.5199_5909del | ClinVar |
| 13 | g.32339741_32339748del | CA2580087363 | BRCA2 | c.5386_5393del (p.Asp1796CysfsTer8) c.5017_5024del (p.Asp1673CysfsTer8) n.5386_5393del | ClinVar |
| 13 | g.32339743_32339745delinsTGC | CA2082822775 | BRCA2 | c.5388_5390delinsTGC (p.Asp1796=) c.5019_5021delinsTGC (p.Asp1673=) n.5388_5390delinsTGC | |
| 13 | g.32339744G>A | CA387785257 | BRCA2 | c.5389G>A (p.Ala1797Thr) c.5020G>A (p.Ala1674Thr) n.5389G>A | dbSNP |
| 13 | g.32339744G>C | CA387785260 | BRCA2 | c.5389G>C (p.Ala1797Pro) c.5020G>C (p.Ala1674Pro) n.5389G>C | dbSNP |
| 13 | g.32339744G>T | CA387785262 | BRCA2 | c.5389G>T (p.Ala1797Ser) c.5020G>T (p.Ala1674Ser) n.5389G>T | |
| 13 | g.32339744_32339745del | CA022198 | BRCA2 | c.5389_5390del (p.Ala1797LysfsTer9) c.5020_5021del (p.Ala1674LysfsTer9) n.5389_5390del | ClinVar dbSNP |
| 13 | g.32339744_32339745delinsGC | CA2082822802 | BRCA2 | c.5389_5390delinsGC (p.Ala1797=) c.5020_5021delinsGC (p.Ala1674=) n.5389_5390delinsGC | |
| 13 | g.32339745del | CA022210 | BRCA2 | c.5390del (p.Ala1797GlufsTer8) c.5021del (p.Ala1674GlufsTer8) n.5390del | ClinVar dbSNP |
| 13 | g.32339745C>A | CA387785268 | BRCA2 | c.5390C>A (p.Ala1797Glu) c.5021C>A (p.Ala1674Glu) n.5390C>A | dbSNP |
| 13 | g.32339745C= | CA2082822814 | BRCA2 | c.5390C= (p.Ala1797=) c.5021C= (p.Ala1674=) n.5390C= | |
| 13 | g.32339745C>G | CA022204 | BRCA2 | c.5390C>G (p.Ala1797Gly) c.5021C>G (p.Ala1674Gly) n.5390C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339745C>T | CA387785264 | BRCA2 | c.5390C>T (p.Ala1797Val) c.5021C>T (p.Ala1674Val) n.5390C>T | dbSNP |
| 13 | g.32339746A>C | CA483438688 | BRCA2 | c.5391A>C (p.Ala1797=) c.5022A>C (p.Ala1674=) n.5391A>C | |
| 13 | g.32339746A>G | CA483438689 | BRCA2 | c.5391A>G (p.Ala1797=) c.5022A>G (p.Ala1674=) n.5391A>G | ClinVar dbSNP |
| 13 | g.32339746A>T | CA483438690 | BRCA2 | c.5391A>T (p.Ala1797=) c.5022A>T (p.Ala1674=) n.5391A>T | dbSNP |
| 13 | g.32339747A= | CA2082822819 | BRCA2 | c.5392A= (p.Asn1798=) c.5023A= (p.Asn1675=) n.5392A= | |
| 13 | g.32339747A>C | CA387785270 | BRCA2 | c.5392A>C (p.Asn1798His) c.5023A>C (p.Asn1675His) n.5392A>C | |
| 13 | g.32339747A>G | CA387785272 | BRCA2 | c.5392A>G (p.Asn1798Asp) c.5023A>G (p.Asn1675Asp) n.5392A>G | ClinVar dbSNP |
| 13 | g.32339747A>T | CA387785274 | BRCA2 | c.5392A>T (p.Asn1798Tyr) c.5023A>T (p.Asn1675Tyr) n.5392A>T | dbSNP |
| 13 | g.32339748A= | CA2082822824 | BRCA2 | c.5393A= (p.Asn1798=) c.5024A= (p.Asn1675=) n.5393A= | |
| 13 | g.32339748A>C | CA387785277 | BRCA2 | c.5393A>C (p.Asn1798Thr) c.5024A>C (p.Asn1675Thr) n.5393A>C | |
| 13 | g.32339748A>G | CA387785280 | BRCA2 | c.5393A>G (p.Asn1798Ser) c.5024A>G (p.Asn1675Ser) n.5393A>G | ClinVar dbSNP |
| 13 | g.32339748A>T | CA387785282 | BRCA2 | c.5393A>T (p.Asn1798Ile) c.5024A>T (p.Asn1675Ile) n.5393A>T | |
| 13 | g.32339749T>A | CA387785284 | BRCA2 | c.5394T>A (p.Asn1798Lys) c.5025T>A (p.Asn1675Lys) n.5394T>A | dbSNP |
| 13 | g.32339749T>C | CA022216 | BRCA2 | c.5394T>C (p.Asn1798=) c.5025T>C (p.Asn1675=) n.5394T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339749T>G | CA387785286 | BRCA2 | c.5394T>G (p.Asn1798Lys) c.5025T>G (p.Asn1675Lys) n.5394T>G | dbSNP |
| 13 | g.32339749T= | CA2082822836 | BRCA2 | c.5394T= (p.Asn1798=) c.5025T= (p.Asn1675=) n.5394T= | |
| 13 | g.32339750G>A | CA387785289 | BRCA2 | c.5395G>A (p.Ala1799Thr) c.5026G>A (p.Ala1676Thr) n.5395G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339750G>C | CA387785292 | BRCA2 | c.5395G>C (p.Ala1799Pro) c.5026G>C (p.Ala1676Pro) n.5395G>C | dbSNP |
| 13 | g.32339750G>T | CA387785295 | BRCA2 | c.5395G>T (p.Ala1799Ser) c.5026G>T (p.Ala1676Ser) n.5395G>T | ClinVar dbSNP |
| 13 | g.32339751C>A | CA387785298 | BRCA2 | c.5396C>A (p.Ala1799Glu) c.5027C>A (p.Ala1676Glu) n.5396C>A | dbSNP |
| 13 | g.32339751C= | CA2082822846 | BRCA2 | c.5396C= (p.Ala1799=) c.5027C= (p.Ala1676=) n.5396C= | |
| 13 | g.32339751C>G | CA387785299 | BRCA2 | c.5396C>G (p.Ala1799Gly) c.5027C>G (p.Ala1676Gly) n.5396C>G | dbSNP |
| 13 | g.32339751C>T | CA350134 | BRCA2 | c.5396C>T (p.Ala1799Val) c.5027C>T (p.Ala1676Val) n.5396C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339752A>C | CA483438695 | BRCA2 | c.5397A>C (p.Ala1799=) c.5028A>C (p.Ala1676=) n.5397A>C | |
| 13 | g.32339752A>G | CA483438697 | BRCA2 | c.5397A>G (p.Ala1799=) c.5028A>G (p.Ala1676=) n.5397A>G | ClinVar |
| 13 | g.32339752A>T | CA483438698 | BRCA2 | c.5397A>T (p.Ala1799=) c.5028A>T (p.Ala1676=) n.5397A>T | dbSNP |
| 13 | g.32339753del | CA2580087368 | BRCA2 | c.5398del (p.Tyr1800ThrfsTer5) c.5029del (p.Tyr1677ThrfsTer5) n.5398del | ClinVar |
| 13 | g.32339753T>A | CA387785302 | BRCA2 | c.5398T>A (p.Tyr1800Asn) c.5029T>A (p.Tyr1677Asn) n.5398T>A | dbSNP |
| 13 | g.32339753T>C | CA387785303 | BRCA2 | c.5398T>C (p.Tyr1800His) c.5029T>C (p.Tyr1677His) n.5398T>C | |
| 13 | g.32339753T>G | CA387785307 | BRCA2 | c.5398T>G (p.Tyr1800Asp) c.5029T>G (p.Tyr1677Asp) n.5398T>G | |
| 13 | g.32339754A>C | CA387785309 | BRCA2 | c.5399A>C (p.Tyr1800Ser) c.5030A>C (p.Tyr1677Ser) n.5399A>C | |
| 13 | g.32339754A>G | CA387785312 | BRCA2 | c.5399A>G (p.Tyr1800Cys) c.5030A>G (p.Tyr1677Cys) n.5399A>G | |
| 13 | g.32339754A>T | CA387785313 | BRCA2 | c.5399A>T (p.Tyr1800Phe) c.5030A>T (p.Tyr1677Phe) n.5399A>T | |
| 13 | g.32339755C>A | CA387785315 | BRCA2 | c.5400C>A (p.Tyr1800Ter) c.5031C>A (p.Tyr1677Ter) n.5400C>A | ClinVar dbSNP |
| 13 | g.32339755C= | CA2082822873 | BRCA2 | c.5400C= (p.Tyr1800=) c.5031C= (p.Tyr1677=) n.5400C= | |
| 13 | g.32339755C>G | CA16619724 | BRCA2 | c.5400C>G (p.Tyr1800Ter) c.5031C>G (p.Tyr1677Ter) n.5400C>G | ClinVar dbSNP |
| 13 | g.32339755C>T | CA6940868 | BRCA2 | c.5400C>T (p.Tyr1800=) c.5031C>T (p.Tyr1677=) n.5400C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339757dup | CA2573051260 | BRCA2 | c.5402dup (p.Gln1802ThrfsTer5) c.5033dup (p.Gln1679ThrfsTer5) n.5402dup | ClinVar dbSNP |