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.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.32340787_32340790delinsAAAT | CA2082814417 | BRCA2 | c.6432_6435delinsAAAT (p.Glu2144=) c.6063_6066delinsAAAT (p.Glu2021=) n.6432_6435delinsAAAT | |
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= | |
13 | g.32340795A>C | CA387789310 | BRCA2 | c.6440A>C (p.His2147Pro) c.6071A>C (p.His2024Pro) n.6440A>C | dbSNP |
13 | g.32340795A>G | CA387789311 | BRCA2 | c.6440A>G (p.His2147Arg) c.6071A>G (p.His2024Arg) n.6440A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32340795A>T | CA387789312 | BRCA2 | c.6440A>T (p.His2147Leu) c.6071A>T (p.His2024Leu) n.6440A>T | dbSNP |
13 | g.32340795_32340797delinsACT | CA2082814499 | BRCA2 | c.6440_6442delinsACT (p.His2147=) c.6071_6073delinsACT (p.His2024=) n.6440_6442delinsACT | |
13 | g.32340796C>A | CA387789313 | BRCA2 | c.6441C>A (p.His2147Gln) c.6072C>A (p.His2024Gln) n.6441C>A | dbSNP |
13 | g.32340796C= | CA2082814518 | BRCA2 | c.6441C= (p.His2147=) c.6072C= (p.His2024=) n.6441C= | |
13 | g.32340796C>G | CA024038 | BRCA2 | c.6441C>G (p.His2147Gln) c.6072C>G (p.His2024Gln) n.6441C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340796C>T | CA10579694 | BRCA2 | c.6441C>T (p.His2147=) c.6072C>T (p.His2024=) n.6441C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32340798_32340799del | CA024040 | BRCA2 | c.6443_6444del (p.Ser2148TyrfsTer2) c.6074_6075del (p.Ser2025TyrfsTer2) n.6443_6444del | ClinVar dbSNP COSMIC |
13 | g.32340797T>A | CA387789316 | BRCA2 | c.6442T>A (p.Ser2148Thr) c.6073T>A (p.Ser2025Thr) n.6442T>A | dbSNP |
13 | g.32340797T>C | CA387789314 | BRCA2 | c.6442T>C (p.Ser2148Pro) c.6073T>C (p.Ser2025Pro) n.6442T>C | dbSNP gnomAD v4 |
13 | g.32340797T>G | CA387789315 | BRCA2 | c.6442T>G (p.Ser2148Ala) c.6073T>G (p.Ser2025Ala) n.6442T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |