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.32339783_32340010del | CA1139663219 | BRCA2 | c.5428_5655del (p.Val1810_Cys1885del) c.5059_5286del (p.Val1687_Cys1762del) n.5428_5655del | ClinVar dbSNP |
13 | g.32339988_32340020del | CA2573053815 | BRCA2 | c.5633_5665del (p.Asn1878_Lys1888del) c.5264_5296del (p.Asn1755_Lys1765del) n.5633_5665del | ClinVar dbSNP |
13 | g.32340001_32340011delinsAAAAATTTGCC | CA2082825750 | BRCA2 | c.5646_5656delinsAAAAATTTGCC (p.Ser1882=) c.5277_5287delinsAAAAATTTGCC (p.Ser1759=) n.5646_5656delinsAAAAATTTGCC | |
13 | g.32340005_32340014del | CA022835 | BRCA2 | c.5650_5659del (p.Ile1884ArgfsTer22) c.5281_5290del (p.Ile1761ArgfsTer22) n.5650_5659del | ClinVar dbSNP |
13 | g.32340005_32340006delinsAT | CA2082825782 | BRCA2 | c.5650_5651delinsAT (p.Ile1884=) c.5281_5282delinsAT (p.Ile1761=) n.5650_5651delinsAT | |
13 | g.32340006T>A | CA387786163 | BRCA2 | c.5651T>A (p.Ile1884Asn) c.5282T>A (p.Ile1761Asn) n.5651T>A | dbSNP |
13 | g.32340006T>C | CA022855 | BRCA2 | c.5651T>C (p.Ile1884Thr) c.5282T>C (p.Ile1761Thr) n.5651T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340006T>G | CA387786162 | BRCA2 | c.5651T>G (p.Ile1884Ser) c.5282T>G (p.Ile1761Ser) n.5651T>G | ClinVar dbSNP |
13 | g.32340006T= | CA2082825804 | BRCA2 | c.5651T= (p.Ile1884=) c.5282T= (p.Ile1761=) n.5651T= | |
13 | g.32340008dup | CA10589324 | BRCA2 | c.5653dup (p.Cys1885LeufsTer15) c.5284dup (p.Cys1762LeufsTer15) n.5653dup | ClinVar dbSNP |
13 | g.32340008del | CA16614178 | BRCA2 | c.5653del (p.Cys1885AlafsTer24) c.5284del (p.Cys1762AlafsTer24) n.5653del | ClinVar dbSNP |
13 | g.32340006_32340007insA | CA10589323 | BRCA2 | c.5651_5652insA (p.Cys1885LeufsTer15) c.5282_5283insA (p.Cys1762LeufsTer15) n.5651_5652insA | ClinVar dbSNP |
13 | g.32340007T>A | CA483438792 | BRCA2 | c.5652T>A (p.Ile1884=) c.5283T>A (p.Ile1761=) n.5652T>A | dbSNP |
13 | g.32340007T>C | CA022860 | BRCA2 | c.5652T>C (p.Ile1884=) c.5283T>C (p.Ile1761=) n.5652T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340007T>G | CA387786164 | BRCA2 | c.5652T>G (p.Ile1884Met) c.5283T>G (p.Ile1761Met) n.5652T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340007T= | CA2082825828 | BRCA2 | c.5652T= (p.Ile1884=) c.5283T= (p.Ile1761=) n.5652T= | |
13 | g.32340008T>A | CA387786165 | BRCA2 | c.5653T>A (p.Cys1885Ser) c.5284T>A (p.Cys1762Ser) n.5653T>A | dbSNP |
13 | g.32340008T>C | CA387786166 | BRCA2 | c.5653T>C (p.Cys1885Arg) c.5284T>C (p.Cys1762Arg) n.5653T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340008T>G | CA387786167 | BRCA2 | c.5653T>G (p.Cys1885Gly) c.5284T>G (p.Cys1762Gly) n.5653T>G | |
13 | g.32340009G>A | CA387786168 | BRCA2 | c.5654G>A (p.Cys1885Tyr) c.5285G>A (p.Cys1762Tyr) n.5654G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32340009G>C | CA387786169 | BRCA2 | c.5654G>C (p.Cys1885Ser) c.5285G>C (p.Cys1762Ser) n.5654G>C | |
13 | g.32340009G= | CA2082825841 | BRCA2 | c.5654G= (p.Cys1885=) c.5285G= (p.Cys1762=) n.5654G= | |
13 | g.32340009G>T | CA10579659 | BRCA2 | c.5654G>T (p.Cys1885Phe) c.5285G>T (p.Cys1762Phe) n.5654G>T | ClinVar dbSNP |
13 | g.32340010C>A | CA022870 | BRCA2 | c.5655C>A (p.Cys1885Ter) c.5286C>A (p.Cys1762Ter) n.5655C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32340010C= | CA2082825855 | BRCA2 | c.5655C= (p.Cys1885=) c.5286C= (p.Cys1762=) n.5655C= | |
13 | g.32340010C>G | CA387786170 | BRCA2 | c.5655C>G (p.Cys1885Trp) c.5286C>G (p.Cys1762Trp) n.5655C>G | ClinVar dbSNP |
13 | g.32340010C>T | CA483438793 | BRCA2 | c.5655C>T (p.Cys1885=) c.5286C>T (p.Cys1762=) n.5655C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340010_32340011dup | CA022865 | BRCA2 | c.5655_5656dup (p.Gln1886ProfsTer24) c.5286_5287dup (p.Gln1763ProfsTer24) n.5655_5656dup | ClinVar dbSNP |
13 | g.32340011C>A | CA387786171 | BRCA2 | c.5656C>A (p.Gln1886Lys) c.5287C>A (p.Gln1763Lys) n.5656C>A | dbSNP gnomAD v4 |
13 | g.32340011C= | CA2082825869 | BRCA2 | c.5656C= (p.Gln1886=) c.5287C= (p.Gln1763=) n.5656C= | |
13 | g.32340011C>G | CA387786172 | BRCA2 | c.5656C>G (p.Gln1886Glu) c.5287C>G (p.Gln1763Glu) n.5656C>G | dbSNP |
13 | g.32340011C>T | CA022876 | BRCA2 | c.5656C>T (p.Gln1886Ter) c.5287C>T (p.Gln1763Ter) n.5656C>T | ClinVar dbSNP |
13 | g.32340011_32340012delinsCA | CA2082825867 | BRCA2 | c.5656_5657delinsCA (p.Gln1886=) c.5287_5288delinsCA (p.Gln1763=) n.5656_5657delinsCA | |
13 | g.32340012A>C | CA387786173 | BRCA2 | c.5657A>C (p.Gln1886Pro) c.5288A>C (p.Gln1763Pro) n.5657A>C | |
13 | g.32340012A>G | CA387786174 | BRCA2 | c.5657A>G (p.Gln1886Arg) c.5288A>G (p.Gln1763Arg) n.5657A>G | ClinVar |
13 | g.32340012A>T | CA387786175 | BRCA2 | c.5657A>T (p.Gln1886Leu) c.5288A>T (p.Gln1763Leu) n.5657A>T | dbSNP |
13 | g.32340014del | CA1139663223 | BRCA2 | c.5659del (p.Thr1887ArgfsTer22) c.5290del (p.Thr1764ArgfsTer22) n.5659del | ClinVar dbSNP |
13 | g.32340013A>C | CA387786176 | BRCA2 | c.5658A>C (p.Gln1886His) c.5289A>C (p.Gln1763His) n.5658A>C | |
13 | g.32340013A>G | CA483438794 | BRCA2 | c.5658A>G (p.Gln1886=) c.5289A>G (p.Gln1763=) n.5658A>G | |
13 | g.32340013A>T | CA387786177 | BRCA2 | c.5658A>T (p.Gln1886His) c.5289A>T (p.Gln1763His) n.5658A>T | dbSNP |
13 | g.32340014A= | CA2082825883 | BRCA2 | c.5659A= (p.Thr1887=) c.5290A= (p.Thr1764=) n.5659A= | |
13 | g.32340014A>C | CA387786178 | BRCA2 | c.5659A>C (p.Thr1887Pro) c.5290A>C (p.Thr1764Pro) n.5659A>C | |
13 | g.32340014A>G | CA022882 | BRCA2 | c.5659A>G (p.Thr1887Ala) c.5290A>G (p.Thr1764Ala) n.5659A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340014A>T | CA387786179 | BRCA2 | c.5659A>T (p.Thr1887Ser) c.5290A>T (p.Thr1764Ser) n.5659A>T | dbSNP |
13 | g.32340015C>A | CA387786181 | BRCA2 | c.5660C>A (p.Thr1887Lys) c.5291C>A (p.Thr1764Lys) n.5660C>A | dbSNP |
13 | g.32340015C= | CA2082825890 | BRCA2 | c.5660C= (p.Thr1887=) c.5291C= (p.Thr1764=) n.5660C= | |
13 | g.32340015C>G | CA387786180 | BRCA2 | c.5660C>G (p.Thr1887Arg) c.5291C>G (p.Thr1764Arg) n.5660C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340015C>T | CA022886 | BRCA2 | c.5660C>T (p.Thr1887Met) c.5291C>T (p.Thr1764Met) n.5660C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
13 | g.32340016G>A | CA022893 | BRCA2 | c.5661G>A (p.Thr1887=) c.5292G>A (p.Thr1764=) n.5661G>A | ClinVar dbSNP gnomAD v4 |