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.32340195_32340208delinsCTTGTGATGTTAGT | CA2082828109 | BRCA2 | c.5840_5853delinsCTTGTGATGTTAGT (p.Pro1947=) c.5471_5484delinsCTTGTGATGTTAGT (p.Pro1824=) n.5840_5853delinsCTTGTGATGTTAGT | |
13 | g.32340199_32340211del | CA1139663228 | BRCA2 | c.5844_5856del (p.Cys1948TrpfsTer11) c.5475_5487del (p.Cys1825TrpfsTer11) n.5844_5856del | ClinVar dbSNP |
13 | g.32340202_32340206delinsTGTTA | CA2082828158 | BRCA2 | c.5847_5851delinsTGTTA (p.Asp1949=) c.5478_5482delinsTGTTA (p.Asp1826=) n.5847_5851delinsTGTTA | |
13 | g.32340206_32340209dup | CA023304 | BRCA2 | c.5851_5854dup (p.Leu1952Ter) c.5482_5485dup (p.Leu1829Ter) n.5851_5854dup | ClinVar dbSNP |
13 | g.32340206_32340209del | CA023297 | BRCA2 | c.5851_5854del (p.Ser1951TrpfsTer11) c.5482_5485del (p.Ser1828TrpfsTer11) n.5851_5854del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32340204T>A | CA387787389 | BRCA2 | c.5849T>A (p.Val1950Asp) c.5480T>A (p.Val1827Asp) n.5849T>A | dbSNP |
13 | g.32340204T>C | CA387787390 | BRCA2 | c.5849T>C (p.Val1950Ala) c.5480T>C (p.Val1827Ala) n.5849T>C | dbSNP |
13 | g.32340204T>G | CA387787392 | BRCA2 | c.5849T>G (p.Val1950Gly) c.5480T>G (p.Val1827Gly) n.5849T>G | dbSNP |
13 | g.32340205T>A | CA483439021 | BRCA2 | c.5850T>A (p.Val1950=) c.5481T>A (p.Val1827=) n.5850T>A | dbSNP |
13 | g.32340205T>C | CA483439022 | BRCA2 | c.5850T>C (p.Val1950=) c.5481T>C (p.Val1827=) n.5850T>C | ClinVar dbSNP |
13 | g.32340205T>G | CA483439023 | BRCA2 | c.5850T>G (p.Val1950=) c.5481T>G (p.Val1827=) n.5850T>G | dbSNP |
13 | g.32340206A= | CA2082828195 | BRCA2 | c.5851A= (p.Ser1951=) c.5482A= (p.Ser1828=) n.5851A= | |
13 | g.32340206A>C | CA387787393 | BRCA2 | c.5851A>C (p.Ser1951Arg) c.5482A>C (p.Ser1828Arg) n.5851A>C | |
13 | g.32340206A>G | CA387787395 | BRCA2 | c.5851A>G (p.Ser1951Gly) c.5482A>G (p.Ser1828Gly) n.5851A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340206A>T | CA387787396 | BRCA2 | c.5851A>T (p.Ser1951Cys) c.5482A>T (p.Ser1828Cys) n.5851A>T | dbSNP |
13 | g.32340206dup | CA2695217903 | BRCA2 | c.5851dup (p.Ser1951LysfsTer9) c.5482dup (p.Ser1828LysfsTer9) n.5851dup | |
13 | g.32340207G>A | CA387787397 | BRCA2 | c.5852G>A (p.Ser1951Asn) c.5483G>A (p.Ser1828Asn) n.5852G>A | ClinVar dbSNP |
13 | g.32340207G>C | CA387787399 | BRCA2 | c.5852G>C (p.Ser1951Thr) c.5483G>C (p.Ser1828Thr) n.5852G>C | dbSNP |
13 | g.32340207G= | CA2082828200 | BRCA2 | c.5852G= (p.Ser1951=) c.5483G= (p.Ser1828=) n.5852G= | |
13 | g.32340207G>T | CA387787401 | BRCA2 | c.5852G>T (p.Ser1951Ile) c.5483G>T (p.Ser1828Ile) n.5852G>T | dbSNP |
13 | g.32340208T>A | CA387787403 | BRCA2 | c.5853T>A (p.Ser1951Arg) c.5484T>A (p.Ser1828Arg) n.5853T>A | dbSNP |
13 | g.32340208T>C | CA483439025 | BRCA2 | c.5853T>C (p.Ser1951=) c.5484T>C (p.Ser1828=) n.5853T>C | |
13 | g.32340208T>G | CA387787404 | BRCA2 | c.5853T>G (p.Ser1951Arg) c.5484T>G (p.Ser1828Arg) n.5853T>G | |
13 | g.32340208T= | CA2082828205 | BRCA2 | c.5853T= (p.Ser1951=) c.5484T= (p.Ser1828=) n.5853T= | |
13 | g.32340209T>A | CA387787405 | BRCA2 | c.5854T>A (p.Leu1952Met) c.5485T>A (p.Leu1829Met) n.5854T>A | ClinVar dbSNP |
13 | g.32340209T>C | CA483439026 | BRCA2 | c.5854T>C (p.Leu1952=) c.5485T>C (p.Leu1829=) n.5854T>C | dbSNP |
13 | g.32340209T>G | CA387787406 | BRCA2 | c.5854T>G (p.Leu1952Val) c.5485T>G (p.Leu1829Val) n.5854T>G | 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= |