Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
13 | g.32340398_32341353del | CA2582073544 | BRCA2 | c.6043_6841+157del c.5674_6472+157del n.6043_6841+157del | |
13 | g.32340785_32340786delinsGA | CA2082814403 | BRCA2 | c.6430_6431delinsGA (p.Glu2144=) c.6061_6062delinsGA (p.Glu2021=) n.6430_6431delinsGA | |
13 | g.32340786A= | CA2082814413 | BRCA2 | c.6431A= (p.Glu2144=) c.6062A= (p.Glu2021=) n.6431A= | |
13 | g.32340786A>C | CA387789290 | BRCA2 | c.6431A>C (p.Glu2144Ala) c.6062A>C (p.Glu2021Ala) n.6431A>C | |
13 | g.32340786A>G | CA6940954 | BRCA2 | c.6431A>G (p.Glu2144Gly) c.6062A>G (p.Glu2021Gly) n.6431A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340786A>T | CA387789291 | BRCA2 | c.6431A>T (p.Glu2144Val) c.6062A>T (p.Glu2021Val) n.6431A>T | dbSNP |
13 | g.32340789dup | CA919242706 | BRCA2 | c.6434dup (p.Asn2145LysfsTer2) c.6065dup (p.Asn2022LysfsTer2) n.6434dup | dbSNP |
13 | g.32340789del | CA024024 | BRCA2 | c.6434del (p.Asn2145IlefsTer23) c.6065del (p.Asn2022IlefsTer23) n.6434del | ClinVar dbSNP |
13 | g.32340787A>C | CA387789292 | BRCA2 | c.6432A>C (p.Glu2144Asp) c.6063A>C (p.Glu2021Asp) n.6432A>C | gnomAD v4 |
13 | g.32340787A>G | CA483438867 | BRCA2 | c.6432A>G (p.Glu2144=) c.6063A>G (p.Glu2021=) n.6432A>G | |
13 | g.32340787A>T | CA387789293 | BRCA2 | c.6432A>T (p.Glu2144Asp) c.6063A>T (p.Glu2021Asp) n.6432A>T | dbSNP |
13 | g.32340787_32340790delinsAAAT | CA2082814417 | BRCA2 | c.6432_6435delinsAAAT (p.Glu2144=) c.6063_6066delinsAAAT (p.Glu2021=) n.6432_6435delinsAAAT | |
13 | g.32340788A= | CA2082814427 | BRCA2 | c.6433A= (p.Asn2145=) c.6064A= (p.Asn2022=) n.6433A= | |
13 | g.32340788A>C | CA387789294 | BRCA2 | c.6433A>C (p.Asn2145His) c.6064A>C (p.Asn2022His) n.6433A>C | ClinVar dbSNP |
13 | g.32340788A>G | CA387789296 | BRCA2 | c.6433A>G (p.Asn2145Asp) c.6064A>G (p.Asn2022Asp) n.6433A>G | |
13 | g.32340788A>T | CA387789295 | BRCA2 | c.6433A>T (p.Asn2145Tyr) c.6064A>T (p.Asn2022Tyr) n.6433A>T | dbSNP |
13 | g.32340791_32340793del | CA2082814429 | BRCA2 | c.6436_6438del (p.Asn2146del) c.6067_6069del (p.Asn2023del) n.6436_6438del | ClinVar dbSNP |
13 | g.32340788_32340796delinsAATAATCAC | CA2082814422 | BRCA2 | c.6433_6441delinsAATAATCAC (p.Asn2145=) c.6064_6072delinsAATAATCAC (p.Asn2022=) n.6433_6441delinsAATAATCAC | |
13 | g.32340789A= | CA2082814435 | BRCA2 | c.6434A= (p.Asn2145=) c.6065A= (p.Asn2022=) n.6434A= | |
13 | g.32340789A>C | CA387789297 | BRCA2 | c.6434A>C (p.Asn2145Thr) c.6065A>C (p.Asn2022Thr) n.6434A>C | dbSNP |
13 | g.32340789A>G | CA024030 | BRCA2 | c.6434A>G (p.Asn2145Ser) c.6065A>G (p.Asn2022Ser) n.6434A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340789A>T | CA387789298 | BRCA2 | c.6434A>T (p.Asn2145Ile) c.6065A>T (p.Asn2022Ile) n.6434A>T | dbSNP |
13 | g.32340789_32340796del | CA024026 | BRCA2 | c.6434_6441del (p.Asn2145IlefsTer3) c.6065_6072del (p.Asn2022IlefsTer3) n.6434_6441del | ClinVar dbSNP |
13 | g.32340790T>A | CA387789299 | BRCA2 | c.6435T>A (p.Asn2145Lys) c.6066T>A (p.Asn2022Lys) n.6435T>A | |
13 | g.32340790T>C | CA024032 | BRCA2 | c.6435T>C (p.Asn2145=) c.6066T>C (p.Asn2022=) n.6435T>C | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32340790T>G | CA387789300 | BRCA2 | c.6435T>G (p.Asn2145Lys) c.6066T>G (p.Asn2022Lys) n.6435T>G | |
13 | g.32340790T= | CA2082814444 | BRCA2 | c.6435T= (p.Asn2145=) c.6066T= (p.Asn2022=) n.6435T= | |
13 | g.32340790_32340794delinsTAATC | CA2082814443 | BRCA2 | c.6435_6439delinsTAATC (p.Asn2145=) c.6066_6070delinsTAATC (p.Asn2022=) n.6435_6439delinsTAATC | |
13 | g.32340791A= | CA2082814463 | BRCA2 | c.6436A= (p.Asn2146=) c.6067A= (p.Asn2023=) n.6436A= | |
13 | g.32340791A>C | CA387789301 | BRCA2 | c.6436A>C (p.Asn2146His) c.6067A>C (p.Asn2023His) n.6436A>C | ClinVar dbSNP |
13 | g.32340791A>G | CA387789302 | BRCA2 | c.6436A>G (p.Asn2146Asp) c.6067A>G (p.Asn2023Asp) n.6436A>G | ClinVar dbSNP |
13 | g.32340791A>T | CA387789303 | BRCA2 | c.6436A>T (p.Asn2146Tyr) c.6067A>T (p.Asn2023Tyr) n.6436A>T | dbSNP |
13 | g.32340792_32340795dup | CA658683805 | BRCA2 | c.6437_6440dup (p.His2147GlnfsTer5) c.6068_6071dup (p.His2024GlnfsTer5) n.6437_6440dup | ClinVar dbSNP |
13 | g.32340792_32340795del | CA024033 | BRCA2 | c.6437_6440del (p.Asn2146ThrfsTer21) c.6068_6071del (p.Asn2023ThrfsTer21) n.6437_6440del | ClinVar dbSNP |
13 | g.32340792A= | CA2082814475 | BRCA2 | c.6437A= (p.Asn2146=) c.6068A= (p.Asn2023=) n.6437A= | |
13 | g.32340792A>C | CA387789304 | BRCA2 | c.6437A>C (p.Asn2146Thr) c.6068A>C (p.Asn2023Thr) n.6437A>C | dbSNP |
13 | g.32340792A>G | CA6940955 | BRCA2 | c.6437A>G (p.Asn2146Ser) c.6068A>G (p.Asn2023Ser) n.6437A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340792A>T | CA387789305 | BRCA2 | c.6437A>T (p.Asn2146Ile) c.6068A>T (p.Asn2023Ile) n.6437A>T | dbSNP |
13 | g.32340792_32340796delinsATCAC | CA2082814480 | BRCA2 | c.6437_6441delinsATCAC (p.Asn2146=) c.6068_6072delinsATCAC (p.Asn2023=) n.6437_6441delinsATCAC | |
13 | g.32340793T>A | CA387789307 | BRCA2 | c.6438T>A (p.Asn2146Lys) c.6069T>A (p.Asn2023Lys) n.6438T>A | ClinVar dbSNP |
13 | g.32340793T>C | CA483438868 | BRCA2 | c.6438T>C (p.Asn2146=) c.6069T>C (p.Asn2023=) n.6438T>C | |
13 | g.32340793T>G | CA387789306 | BRCA2 | c.6438T>G (p.Asn2146Lys) c.6069T>G (p.Asn2023Lys) n.6438T>G | ClinVar dbSNP |
13 | g.32340793T= | CA2082814487 | BRCA2 | c.6438T= (p.Asn2146=) c.6069T= (p.Asn2023=) n.6438T= | |
13 | g.32340795_32340798del | CA919242708 | BRCA2 | c.6440_6443del (p.His2147LeufsTer20) c.6071_6074del (p.His2024LeufsTer20) n.6440_6443del | ClinVar dbSNP |
13 | g.32340794C>A | CA387789308 | BRCA2 | c.6439C>A (p.His2147Asn) c.6070C>A (p.His2024Asn) n.6439C>A | dbSNP |
13 | g.32340794C= | CA2082814492 | BRCA2 | c.6439C= (p.His2147=) c.6070C= (p.His2024=) n.6439C= | |
13 | g.32340794C>G | CA387789309 | BRCA2 | c.6439C>G (p.His2147Asp) c.6070C>G (p.His2024Asp) n.6439C>G | dbSNP |
13 | g.32340794C>T | CA024036 | BRCA2 | c.6439C>T (p.His2147Tyr) c.6070C>T (p.His2024Tyr) n.6439C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32340795A= | CA2082814501 | BRCA2 | c.6440A= (p.His2147=) c.6071A= (p.His2024=) n.6440A= |