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.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
13 | g.32340199_32340211del | CA1139663228 | BRCA2 | c.5844_5856del (p.Cys1948TrpfsTer11) c.5475_5487del (p.Cys1825TrpfsTer11) n.5844_5856del | ClinVar dbSNP |
13 | g.32340210_32340211insAGTT | CA10589334 | BRCA2 | c.5855_5856insAGTT (p.Glu1953ValfsTer8) c.5486_5487insAGTT (p.Glu1830ValfsTer8) n.5855_5856insAGTT | ClinVar dbSNP |
13 | g.32340210T>A | CA023306 | BRCA2 | c.5855T>A (p.Leu1952Ter) c.5486T>A (p.Leu1829Ter) n.5855T>A | ClinVar dbSNP gnomAD v2 |
13 | g.32340210T>C | CA387787407 | BRCA2 | c.5855T>C (p.Leu1952Ser) c.5486T>C (p.Leu1829Ser) n.5855T>C | ClinVar dbSNP |
13 | g.32340210T>G | CA023308 | BRCA2 | c.5855T>G (p.Leu1952Trp) c.5486T>G (p.Leu1829Trp) n.5855T>G | ClinVar dbSNP |
13 | g.32340210T= | CA2082828254 | BRCA2 | c.5855T= (p.Leu1952=) c.5486T= (p.Leu1829=) n.5855T= | |
13 | g.32340210_32340211delinsTG | CA2082828256 | BRCA2 | c.5855_5856delinsTG (p.Leu1952=) c.5486_5487delinsTG (p.Leu1829=) n.5855_5856delinsTG | |
13 | g.32340211G>A | CA483439027 | BRCA2 | c.5856G>A (p.Leu1952=) c.5487G>A (p.Leu1829=) n.5856G>A | dbSNP |
13 | g.32340211G>C | CA387787408 | BRCA2 | c.5856G>C (p.Leu1952Phe) c.5487G>C (p.Leu1829Phe) n.5856G>C | dbSNP |
13 | g.32340211G>T | CA387787409 | BRCA2 | c.5856G>T (p.Leu1952Phe) c.5487G>T (p.Leu1829Phe) n.5856G>T | dbSNP |
13 | g.32340212del | CA023309 | BRCA2 | c.5857del (p.Glu1953LysfsTer10) c.5488del (p.Glu1830LysfsTer10) n.5857del | ClinVar dbSNP |
13 | g.32340212G>A | CA387787410 | BRCA2 | c.5857G>A (p.Glu1953Lys) c.5488G>A (p.Glu1830Lys) n.5857G>A | dbSNP |
13 | g.32340212G>C | CA387787411 | BRCA2 | c.5857G>C (p.Glu1953Gln) c.5488G>C (p.Glu1830Gln) n.5857G>C | dbSNP |
13 | g.32340212G= | CA2082828263 | BRCA2 | c.5857G= (p.Glu1953=) c.5488G= (p.Glu1830=) n.5857G= | |
13 | g.32340212G>T | CA023311 | BRCA2 | c.5857G>T (p.Glu1953Ter) c.5488G>T (p.Glu1830Ter) n.5857G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340213A>C | CA387787414 | BRCA2 | c.5858A>C (p.Glu1953Ala) c.5489A>C (p.Glu1830Ala) n.5858A>C | |
13 | g.32340213A>G | CA387787412 | BRCA2 | c.5858A>G (p.Glu1953Gly) c.5489A>G (p.Glu1830Gly) n.5858A>G | dbSNP |
13 | g.32340213A>T | CA387787413 | BRCA2 | c.5858A>T (p.Glu1953Val) c.5489A>T (p.Glu1830Val) n.5858A>T | dbSNP |
13 | g.32340214A>C | CA387787415 | BRCA2 | c.5859A>C (p.Glu1953Asp) c.5490A>C (p.Glu1830Asp) n.5859A>C | |
13 | g.32340214A>G | CA483439031 | BRCA2 | c.5859A>G (p.Glu1953=) c.5490A>G (p.Glu1830=) n.5859A>G | dbSNP |
13 | g.32340214A>T | CA387787416 | BRCA2 | c.5859A>T (p.Glu1953Asp) c.5490A>T (p.Glu1830Asp) n.5859A>T | dbSNP |
13 | g.32340215A= | CA2082828267 | BRCA2 | c.5860A= (p.Thr1954=) c.5491A= (p.Thr1831=) n.5860A= | |
13 | g.32340215A>C | CA387787417 | BRCA2 | c.5860A>C (p.Thr1954Pro) c.5491A>C (p.Thr1831Pro) n.5860A>C | |
13 | g.32340215A>G | CA387787418 | BRCA2 | c.5860A>G (p.Thr1954Ala) c.5491A>G (p.Thr1831Ala) n.5860A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340215A>T | CA387787419 | BRCA2 | c.5860A>T (p.Thr1954Ser) c.5491A>T (p.Thr1831Ser) n.5860A>T | dbSNP |
13 | g.32340216C>A | CA387787420 | BRCA2 | c.5861C>A (p.Thr1954Asn) c.5492C>A (p.Thr1831Asn) n.5861C>A | |
13 | g.32340216C= | CA2082828279 | BRCA2 | c.5861C= (p.Thr1954=) c.5492C= (p.Thr1831=) n.5861C= | |
13 | g.32340216C>G | CA387787421 | BRCA2 | c.5861C>G (p.Thr1954Ser) c.5492C>G (p.Thr1831Ser) n.5861C>G | ClinVar dbSNP |
13 | g.32340216C>T | CA16613983 | BRCA2 | c.5861C>T (p.Thr1954Ile) c.5492C>T (p.Thr1831Ile) n.5861C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32340216_32340217delinsCT | CA2082828276 | BRCA2 | c.5861_5862delinsCT (p.Thr1954=) c.5492_5493delinsCT (p.Thr1831=) n.5861_5862delinsCT | |
13 | g.32340216_32340218delinsCTT | CA2082828277 | BRCA2 | c.5861_5863delinsCTT (p.Thr1954=) c.5492_5494delinsCTT (p.Thr1831=) n.5861_5863delinsCTT | |
13 | g.32340217T>A | CA483439035 | BRCA2 | c.5862T>A (p.Thr1954=) c.5493T>A (p.Thr1831=) n.5862T>A | dbSNP |
13 | g.32340217T>C | CA483439036 | BRCA2 | c.5862T>C (p.Thr1954=) c.5493T>C (p.Thr1831=) n.5862T>C | dbSNP |
13 | g.32340217T>G | CA483439037 | BRCA2 | c.5862T>G (p.Thr1954=) c.5493T>G (p.Thr1831=) n.5862T>G | ClinVar |
13 | g.32340217_32340218del | CA023313 | BRCA2 | c.5862_5863del (p.Ser1955ArgfsTer4) c.5493_5494del (p.Ser1832ArgfsTer4) n.5862_5863del | ClinVar dbSNP |
13 | g.32340218del | CA023315 | BRCA2 | c.5863del (p.Ser1955GlnfsTer8) c.5494del (p.Ser1832GlnfsTer8) n.5863del | ClinVar dbSNP |
13 | g.32340218T>A | CA387787424 | BRCA2 | c.5863T>A (p.Ser1955Thr) c.5494T>A (p.Ser1832Thr) n.5863T>A | dbSNP |
13 | g.32340218T>C | CA387787423 | BRCA2 | c.5863T>C (p.Ser1955Pro) c.5494T>C (p.Ser1832Pro) n.5863T>C | dbSNP |
13 | g.32340218T>G | CA387787422 | BRCA2 | c.5863T>G (p.Ser1955Ala) c.5494T>G (p.Ser1832Ala) n.5863T>G | |
13 | g.32340219C>A | CA023317 | BRCA2 | c.5864C>A (p.Ser1955Ter) c.5495C>A (p.Ser1832Ter) n.5864C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340219C= | CA2082828303 | BRCA2 | c.5864C= (p.Ser1955=) c.5495C= (p.Ser1832=) n.5864C= | |
13 | g.32340219C>G | CA023319 | BRCA2 | c.5864C>G (p.Ser1955Ter) c.5495C>G (p.Ser1832Ter) n.5864C>G | ClinVar dbSNP |
13 | g.32340219C>T | CA16614179 | BRCA2 | c.5864C>T (p.Ser1955Leu) c.5495C>T (p.Ser1832Leu) n.5864C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32340220A>C | CA483439038 | BRCA2 | c.5865A>C (p.Ser1955=) c.5496A>C (p.Ser1832=) n.5865A>C | |
13 | g.32340220A>G | CA483439039 | BRCA2 | c.5865A>G (p.Ser1955=) c.5496A>G (p.Ser1832=) n.5865A>G | dbSNP |
13 | g.32340220A>T | CA483439040 | BRCA2 | c.5865A>T (p.Ser1955=) c.5496A>T (p.Ser1832=) n.5865A>T | dbSNP |
13 | g.32340221G>A | CA387787425 | BRCA2 | c.5866G>A (p.Asp1956Asn) c.5497G>A (p.Asp1833Asn) n.5866G>A | dbSNP |
13 | g.32340221G>C | CA023321 | BRCA2 | c.5866G>C (p.Asp1956His) c.5497G>C (p.Asp1833His) n.5866G>C | ClinVar dbSNP |