| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32398161_32398770delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA | CA2082833839 | BRCA2 | c.*172-1_*780delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA c.*1016-1_*1624delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA c.9280-1_9888delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA c.*1211-1_*1819delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA c.9598-1_10206delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA c.2065-1_2673delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA n.1776-1_2384delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA c.9649-1_10257delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA c.9657-1_10265delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA c.9553-1_10161delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA | |
| 13 | g.32398162_32398770del | CA913190737 | BRCA2 | c.*172_*780del (n.*172_*780del) c.*1016_*1624del (n.*1016_*1624del) c.9280_9888del (p.Met3094_Ter3296del) c.*1211_*1819del (n.*1211_*1819del) c.9598_10206del (p.Met3200_Ter3402del) c.2065_2673del (p.Met689_Ter891del) n.1776_2384del c.9649_10257del (p.Met3217_Ter3419del) c.9657_10265del (n.9657_10265del) c.9553_10161del (p.Met3185_Ter3387del) | ClinVar dbSNP |
| 13 | g.32398162_32399672del | CA658798102 | BRCA2 | c.*172_*1682del (n.*172_*1682del) c.9280_*902del (n.[c.9280_*902del;Met3094LeufsTer18]) c.9649_*902del (n.[c.9649_*902del;Met3217LeufsTer18]) c.9657_11167del (n.9657_11167del) c.9649_*902del (n.[c.9649_*902del;Met3217=]) c.9553_*902del (n.[c.9553_*902del;Met3185LeufsTer18]) | ClinVar |
| 13 | g.32398599_32398884del | CA2580611892 | BRCA2 | c.*609_*894del (n.*609_*894del) c.*1453_*1738del (n.*1453_*1738del) c.9717_*114del (n.[c.9717_*114del;Phe3239LeufsTer?]) c.*1648_*1933del (n.*1648_*1933del) c.10035_*114del (n.[c.10035_*114del;Phe3345LeufsTer?]) n.2213_2498del c.10086_*114del (n.[c.10086_*114del;Phe3362LeufsTer?]) c.10094_10379del (n.10094_10379del) c.9990_*114del (n.[c.9990_*114del;Phe3330LeufsTer?]) | |
| 13 | g.32398647T>A | CA387768106 | BRCA2 | c.*657T>A (n.*657T>A) c.*1501T>A (n.*1501T>A) c.9765T>A (p.Asp3255Glu) c.*1696T>A (n.*1696T>A) c.10083T>A (p.Asp3361Glu) c.2550T>A (p.Asp850Glu) n.2261T>A c.10134T>A (p.Asp3378Glu) c.10142T>A (n.10142T>A) c.10038T>A (p.Asp3346Glu) | dbSNP |
| 13 | g.32398647T>C | CA483440537 | BRCA2 | c.*657T>C (n.*657T>C) c.*1501T>C (n.*1501T>C) c.9765T>C (p.Asp3255=) c.*1696T>C (n.*1696T>C) c.10083T>C (p.Asp3361=) c.2550T>C (p.Asp850=) n.2261T>C c.10134T>C (p.Asp3378=) c.10142T>C (n.10142T>C) c.10038T>C (p.Asp3346=) | ClinVar dbSNP |
| 13 | g.32398647T>G | CA387768108 | BRCA2 | c.*657T>G (n.*657T>G) c.*1501T>G (n.*1501T>G) c.9765T>G (p.Asp3255Glu) c.*1696T>G (n.*1696T>G) c.10083T>G (p.Asp3361Glu) c.2550T>G (p.Asp850Glu) n.2261T>G c.10134T>G (p.Asp3378Glu) c.10142T>G (n.10142T>G) c.10038T>G (p.Asp3346Glu) | dbSNP |
| 13 | g.32398648del | CA2499222400 | BRCA2 | c.*658del (n.*658del) c.*1502del (n.*1502del) c.9766del (p.Tyr3256IlefsTer4) c.*1697del (n.*1697del) c.10084del (p.Tyr3362IlefsTer4) c.2551del (p.Tyr851IlefsTer4) n.2262del c.10135del (p.Tyr3379IlefsTer4) c.10143del (n.10143del) c.10039del (p.Tyr3347IlefsTer4) | ClinVar dbSNP |
| 13 | g.32398648T>A | CA387768110 | BRCA2 | c.*658T>A (n.*658T>A) c.*1502T>A (n.*1502T>A) c.9766T>A (p.Tyr3256Asn) c.*1697T>A (n.*1697T>A) c.10084T>A (p.Tyr3362Asn) c.2551T>A (p.Tyr851Asn) n.2262T>A c.10135T>A (p.Tyr3379Asn) c.10143T>A (n.10143T>A) c.10039T>A (p.Tyr3347Asn) | dbSNP |
| 13 | g.32398648T>C | CA387768111 | BRCA2 | c.*658T>C (n.*658T>C) c.*1502T>C (n.*1502T>C) c.9766T>C (p.Tyr3256His) c.*1697T>C (n.*1697T>C) c.10084T>C (p.Tyr3362His) c.2551T>C (p.Tyr851His) n.2262T>C c.10135T>C (p.Tyr3379His) c.10143T>C (n.10143T>C) c.10039T>C (p.Tyr3347His) | |
| 13 | g.32398648T>G | CA387768112 | BRCA2 | c.*658T>G (n.*658T>G) c.*1502T>G (n.*1502T>G) c.9766T>G (p.Tyr3256Asp) c.*1697T>G (n.*1697T>G) c.10084T>G (p.Tyr3362Asp) c.2551T>G (p.Tyr851Asp) n.2262T>G c.10135T>G (p.Tyr3379Asp) c.10143T>G (n.10143T>G) c.10039T>G (p.Tyr3347Asp) | |
| 13 | g.32398649A= | CA2082837655 | BRCA2 | c.*659A= (n.*659A=) c.*1503A= (n.*1503A=) c.9767A= (p.Tyr3256=) c.*1698A= (n.*1698A=) c.10085A= (p.Tyr3362=) c.2552A= (p.Tyr851=) n.2263A= c.10136A= (p.Tyr3379=) c.10144A= (n.10144A=) c.10040A= (p.Tyr3347=) | |
| 13 | g.32398649A>C | CA387768118 | BRCA2 | c.*659A>C (n.*659A>C) c.*1503A>C (n.*1503A>C) c.9767A>C (p.Tyr3256Ser) c.*1698A>C (n.*1698A>C) c.10085A>C (p.Tyr3362Ser) c.2552A>C (p.Tyr851Ser) n.2263A>C c.10136A>C (p.Tyr3379Ser) c.10144A>C (n.10144A>C) c.10040A>C (p.Tyr3347Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32398649A>G | CA387768114 | BRCA2 | c.*659A>G (n.*659A>G) c.*1503A>G (n.*1503A>G) c.9767A>G (p.Tyr3256Cys) c.*1698A>G (n.*1698A>G) c.10085A>G (p.Tyr3362Cys) c.2552A>G (p.Tyr851Cys) n.2263A>G c.10136A>G (p.Tyr3379Cys) c.10144A>G (n.10144A>G) c.10040A>G (p.Tyr3347Cys) | ClinVar dbSNP |
| 13 | g.32398649A>T | CA387768116 | BRCA2 | c.*659A>T (n.*659A>T) c.*1503A>T (n.*1503A>T) c.9767A>T (p.Tyr3256Phe) c.*1698A>T (n.*1698A>T) c.10085A>T (p.Tyr3362Phe) c.2552A>T (p.Tyr851Phe) n.2263A>T c.10136A>T (p.Tyr3379Phe) c.10144A>T (n.10144A>T) c.10040A>T (p.Tyr3347Phe) | dbSNP |
| 13 | g.32398650T>A | CA387768119 | BRCA2 | c.*660T>A (n.*660T>A) c.*1504T>A (n.*1504T>A) c.9768T>A (p.Tyr3256Ter) c.*1699T>A (n.*1699T>A) c.10086T>A (p.Tyr3362Ter) c.2553T>A (p.Tyr851Ter) n.2264T>A c.10137T>A (p.Tyr3379Ter) c.10145T>A (n.10145T>A) c.10041T>A (p.Tyr3347Ter) | dbSNP |
| 13 | g.32398650T>C | CA483440539 | BRCA2 | c.*660T>C (n.*660T>C) c.*1504T>C (n.*1504T>C) c.9768T>C (p.Tyr3256=) c.*1699T>C (n.*1699T>C) c.10086T>C (p.Tyr3362=) c.2553T>C (p.Tyr851=) n.2264T>C c.10137T>C (p.Tyr3379=) c.10145T>C (n.10145T>C) c.10041T>C (p.Tyr3347=) | dbSNP |
| 13 | g.32398650T>G | CA387768121 | BRCA2 | c.*660T>G (n.*660T>G) c.*1504T>G (n.*1504T>G) c.9768T>G (p.Tyr3256Ter) c.*1699T>G (n.*1699T>G) c.10086T>G (p.Tyr3362Ter) c.2553T>G (p.Tyr851Ter) n.2264T>G c.10137T>G (p.Tyr3379Ter) c.10145T>G (n.10145T>G) c.10041T>G (p.Tyr3347Ter) | |
| 13 | g.32398651C>A | CA387768123 | BRCA2 | c.*661C>A (n.*661C>A) c.*1505C>A (n.*1505C>A) c.9769C>A (p.Leu3257Ile) c.*1700C>A (n.*1700C>A) c.10087C>A (p.Leu3363Ile) c.2554C>A (p.Leu852Ile) n.2265C>A c.10138C>A (p.Leu3380Ile) c.10146C>A (n.10146C>A) c.10042C>A (p.Leu3348Ile) | dbSNP |
| 13 | g.32398651C= | CA2082837662 | BRCA2 | c.*661C= (n.*661C=) c.*1505C= (n.*1505C=) c.9769C= (p.Leu3257=) c.*1700C= (n.*1700C=) c.10087C= (p.Leu3363=) c.2554C= (p.Leu852=) n.2265C= c.10138C= (p.Leu3380=) c.10146C= (n.10146C=) c.10042C= (p.Leu3348=) | |
| 13 | g.32398651C>G | CA387768125 | BRCA2 | c.*661C>G (n.*661C>G) c.*1505C>G (n.*1505C>G) c.9769C>G (p.Leu3257Val) c.*1700C>G (n.*1700C>G) c.10087C>G (p.Leu3363Val) c.2554C>G (p.Leu852Val) n.2265C>G c.10138C>G (p.Leu3380Val) c.10146C>G (n.10146C>G) c.10042C>G (p.Leu3348Val) | ClinVar dbSNP |
| 13 | g.32398651C>T | CA387768126 | BRCA2 | c.*661C>T (n.*661C>T) c.*1505C>T (n.*1505C>T) c.9769C>T (p.Leu3257Phe) c.*1700C>T (n.*1700C>T) c.10087C>T (p.Leu3363Phe) c.2554C>T (p.Leu852Phe) n.2265C>T c.10138C>T (p.Leu3380Phe) c.10146C>T (n.10146C>T) c.10042C>T (p.Leu3348Phe) | dbSNP |
| 13 | g.32398652T>A | CA387768131 | BRCA2 | c.*662T>A (n.*662T>A) c.*1506T>A (n.*1506T>A) c.9770T>A (p.Leu3257His) c.*1701T>A (n.*1701T>A) c.10088T>A (p.Leu3363His) c.2555T>A (p.Leu852His) n.2266T>A c.10139T>A (p.Leu3380His) c.10147T>A (n.10147T>A) c.10043T>A (p.Leu3348His) | dbSNP |
| 13 | g.32398652T>C | CA387768130 | BRCA2 | c.*662T>C (n.*662T>C) c.*1506T>C (n.*1506T>C) c.9770T>C (p.Leu3257Pro) c.*1701T>C (n.*1701T>C) c.10088T>C (p.Leu3363Pro) c.2555T>C (p.Leu852Pro) n.2266T>C c.10139T>C (p.Leu3380Pro) c.10147T>C (n.10147T>C) c.10043T>C (p.Leu3348Pro) | |
| 13 | g.32398652T>G | CA387768128 | BRCA2 | c.*662T>G (n.*662T>G) c.*1506T>G (n.*1506T>G) c.9770T>G (p.Leu3257Arg) c.*1701T>G (n.*1701T>G) c.10088T>G (p.Leu3363Arg) c.2555T>G (p.Leu852Arg) n.2266T>G c.10139T>G (p.Leu3380Arg) c.10147T>G (n.10147T>G) c.10043T>G (p.Leu3348Arg) | |
| 13 | g.32398653C>A | CA483440543 | BRCA2 | c.*663C>A (n.*663C>A) c.*1507C>A (n.*1507C>A) c.9771C>A (p.Leu3257=) c.*1702C>A (n.*1702C>A) c.10089C>A (p.Leu3363=) c.2556C>A (p.Leu852=) n.2267C>A c.10140C>A (p.Leu3380=) c.10148C>A (n.10148C>A) c.10044C>A (p.Leu3348=) | |
| 13 | g.32398653C>G | CA483440544 | BRCA2 | c.*663C>G (n.*663C>G) c.*1507C>G (n.*1507C>G) c.9771C>G (p.Leu3257=) c.*1702C>G (n.*1702C>G) c.10089C>G (p.Leu3363=) c.2556C>G (p.Leu852=) n.2267C>G c.10140C>G (p.Leu3380=) c.10148C>G (n.10148C>G) c.10044C>G (p.Leu3348=) | dbSNP |
| 13 | g.32398653C>T | CA483440545 | BRCA2 | c.*663C>T (n.*663C>T) c.*1507C>T (n.*1507C>T) c.9771C>T (p.Leu3257=) c.*1702C>T (n.*1702C>T) c.10089C>T (p.Leu3363=) c.2556C>T (p.Leu852=) n.2267C>T c.10140C>T (p.Leu3380=) c.10148C>T (n.10148C>T) c.10044C>T (p.Leu3348=) | dbSNP |
| 13 | g.32398654A= | CA2082837669 | BRCA2 | c.*664A= (n.*664A=) c.*1508A= (n.*1508A=) c.9772A= (p.Arg3258=) c.*1703A= (n.*1703A=) c.10090A= (p.Arg3364=) c.2557A= (p.Arg853=) n.2268A= c.10141A= (p.Arg3381=) c.10149A= (n.10149A=) c.10045A= (p.Arg3349=) | |
| 13 | g.32398654A>C | CA483440546 | BRCA2 | c.*664A>C (n.*664A>C) c.*1508A>C (n.*1508A>C) c.9772A>C (p.Arg3258=) c.*1703A>C (n.*1703A>C) c.10090A>C (p.Arg3364=) c.2557A>C (p.Arg853=) n.2268A>C c.10141A>C (p.Arg3381=) c.10149A>C (n.10149A>C) c.10045A>C (p.Arg3349=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398654A>G | CA387768133 | BRCA2 | c.*664A>G (n.*664A>G) c.*1508A>G (n.*1508A>G) c.9772A>G (p.Arg3258Gly) c.*1703A>G (n.*1703A>G) c.10090A>G (p.Arg3364Gly) c.2557A>G (p.Arg853Gly) n.2268A>G c.10141A>G (p.Arg3381Gly) c.10149A>G (n.10149A>G) c.10045A>G (p.Arg3349Gly) | dbSNP |
| 13 | g.32398654A>T | CA387768134 | BRCA2 | c.*664A>T (n.*664A>T) c.*1508A>T (n.*1508A>T) c.9772A>T (p.Arg3258Ter) c.*1703A>T (n.*1703A>T) c.10090A>T (p.Arg3364Ter) c.2557A>T (p.Arg853Ter) n.2268A>T c.10141A>T (p.Arg3381Ter) c.10149A>T (n.10149A>T) c.10045A>T (p.Arg3349Ter) | dbSNP |
| 13 | g.32398655G>A | CA387768135 | BRCA2 | c.*665G>A (n.*665G>A) c.*1509G>A (n.*1509G>A) c.9773G>A (p.Arg3258Lys) c.*1704G>A (n.*1704G>A) c.10091G>A (p.Arg3364Lys) c.2558G>A (p.Arg853Lys) n.2269G>A c.10142G>A (p.Arg3381Lys) c.10150G>A (n.10150G>A) c.10046G>A (p.Arg3349Lys) | ClinVar dbSNP |
| 13 | g.32398655G>C | CA387768136 | BRCA2 | c.*665G>C (n.*665G>C) c.*1509G>C (n.*1509G>C) c.9773G>C (p.Arg3258Thr) c.*1704G>C (n.*1704G>C) c.10091G>C (p.Arg3364Thr) c.2558G>C (p.Arg853Thr) n.2269G>C c.10142G>C (p.Arg3381Thr) c.10150G>C (n.10150G>C) c.10046G>C (p.Arg3349Thr) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398655G= | CA2082837673 | BRCA2 | c.*665G= (n.*665G=) c.*1509G= (n.*1509G=) c.9773G= (p.Arg3258=) c.*1704G= (n.*1704G=) c.10091G= (p.Arg3364=) c.2558G= (p.Arg853=) n.2269G= c.10142G= (p.Arg3381=) c.10150G= (n.10150G=) c.10046G= (p.Arg3349=) | |
| 13 | g.32398655G>T | CA387768137 | BRCA2 | c.*665G>T (n.*665G>T) c.*1509G>T (n.*1509G>T) c.9773G>T (p.Arg3258Ile) c.*1704G>T (n.*1704G>T) c.10091G>T (p.Arg3364Ile) c.2558G>T (p.Arg853Ile) n.2269G>T c.10142G>T (p.Arg3381Ile) c.10150G>T (n.10150G>T) c.10046G>T (p.Arg3349Ile) | dbSNP |
| 13 | g.32398656A= | CA2082837677 | BRCA2 | c.*666A= (n.*666A=) c.*1510A= (n.*1510A=) c.9774A= (p.Arg3258=) c.*1705A= (n.*1705A=) c.10092A= (p.Arg3364=) c.2559A= (p.Arg853=) n.2270A= c.10143A= (p.Arg3381=) c.10151A= (n.10151A=) c.10047A= (p.Arg3349=) | |
| 13 | g.32398656A>C | CA387768139 | BRCA2 | c.*666A>C (n.*666A>C) c.*1510A>C (n.*1510A>C) c.9774A>C (p.Arg3258Ser) c.*1705A>C (n.*1705A>C) c.10092A>C (p.Arg3364Ser) c.2559A>C (p.Arg853Ser) n.2270A>C c.10143A>C (p.Arg3381Ser) c.10151A>C (n.10151A>C) c.10047A>C (p.Arg3349Ser) | |
| 13 | g.32398656A>G | CA483440549 | BRCA2 | c.*666A>G (n.*666A>G) c.*1510A>G (n.*1510A>G) c.9774A>G (p.Arg3258=) c.*1705A>G (n.*1705A>G) c.10092A>G (p.Arg3364=) c.2559A>G (p.Arg853=) n.2270A>G c.10143A>G (p.Arg3381=) c.10151A>G (n.10151A>G) c.10047A>G (p.Arg3349=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398656A>T | CA387768140 | BRCA2 | c.*666A>T (n.*666A>T) c.*1510A>T (n.*1510A>T) c.9774A>T (p.Arg3258Ser) c.*1705A>T (n.*1705A>T) c.10092A>T (p.Arg3364Ser) c.2559A>T (p.Arg853Ser) n.2270A>T c.10143A>T (p.Arg3381Ser) c.10151A>T (n.10151A>T) c.10047A>T (p.Arg3349Ser) | ClinVar dbSNP |
| 13 | g.32398657C>A | CA387768143 | BRCA2 | c.*667C>A (n.*667C>A) c.*1511C>A (n.*1511C>A) c.9775C>A (p.Leu3259Met) c.*1706C>A (n.*1706C>A) c.10093C>A (p.Leu3365Met) c.2560C>A (p.Leu854Met) n.2271C>A c.10144C>A (p.Leu3382Met) c.10152C>A (n.10152C>A) c.10048C>A (p.Leu3350Met) | |
| 13 | g.32398657C>G | CA387768144 | BRCA2 | c.*667C>G (n.*667C>G) c.*1511C>G (n.*1511C>G) c.9775C>G (p.Leu3259Val) c.*1706C>G (n.*1706C>G) c.10093C>G (p.Leu3365Val) c.2560C>G (p.Leu854Val) n.2271C>G c.10144C>G (p.Leu3382Val) c.10152C>G (n.10152C>G) c.10048C>G (p.Leu3350Val) | |
| 13 | g.32398657C>T | CA483440550 | BRCA2 | c.*667C>T (n.*667C>T) c.*1511C>T (n.*1511C>T) c.9775C>T (p.Leu3259=) c.*1706C>T (n.*1706C>T) c.10093C>T (p.Leu3365=) c.2560C>T (p.Leu854=) n.2271C>T c.10144C>T (p.Leu3382=) c.10152C>T (n.10152C>T) c.10048C>T (p.Leu3350=) | gnomAD v4 |
| 13 | g.32398658T>A | CA387768146 | BRCA2 | c.*668T>A (n.*668T>A) c.*1512T>A (n.*1512T>A) c.9776T>A (p.Leu3259Gln) c.*1707T>A (n.*1707T>A) c.10094T>A (p.Leu3365Gln) c.2561T>A (p.Leu854Gln) n.2272T>A c.10145T>A (p.Leu3382Gln) c.10153T>A (n.10153T>A) c.10049T>A (p.Leu3350Gln) | dbSNP |
| 13 | g.32398658T>C | CA387768147 | BRCA2 | c.*668T>C (n.*668T>C) c.*1512T>C (n.*1512T>C) c.9776T>C (p.Leu3259Pro) c.*1707T>C (n.*1707T>C) c.10094T>C (p.Leu3365Pro) c.2561T>C (p.Leu854Pro) n.2272T>C c.10145T>C (p.Leu3382Pro) c.10153T>C (n.10153T>C) c.10049T>C (p.Leu3350Pro) | dbSNP gnomAD v2 |
| 13 | g.32398658T>G | CA387768149 | BRCA2 | c.*668T>G (n.*668T>G) c.*1512T>G (n.*1512T>G) c.9776T>G (p.Leu3259Arg) c.*1707T>G (n.*1707T>G) c.10094T>G (p.Leu3365Arg) c.2561T>G (p.Leu854Arg) n.2272T>G c.10145T>G (p.Leu3382Arg) c.10153T>G (n.10153T>G) c.10049T>G (p.Leu3350Arg) | |
| 13 | g.32398658T= | CA2082837690 | BRCA2 | c.*668T= (n.*668T=) c.*1512T= (n.*1512T=) c.9776T= (p.Leu3259=) c.*1707T= (n.*1707T=) c.10094T= (p.Leu3365=) c.2561T= (p.Leu854=) n.2272T= c.10145T= (p.Leu3382=) c.10153T= (n.10153T=) c.10049T= (p.Leu3350=) | |
| 13 | g.32398658_32398659del | CA2499222401 | BRCA2 | c.*668_*669del (n.*668_*669del) c.*1512_*1513del (n.*1512_*1513del) c.9776_9777del (p.Leu3259GlnfsTer23) c.*1707_*1708del (n.*1707_*1708del) c.10094_10095del (p.Leu3365GlnfsTer23) c.2561_2562del (p.Leu854GlnfsTer23) n.2272_2273del c.10145_10146del (p.Leu3382GlnfsTer23) c.10153_10154del (n.10153_10154del) c.10049_10050del (p.Leu3350GlnfsTer23) | ClinVar dbSNP |
| 13 | g.32398658_32398659delinsTG | CA2082837686 | BRCA2 | c.*668_*669delinsTG (n.*668_*669delinsTG) c.*1512_*1513delinsTG (n.*1512_*1513delinsTG) c.9776_9777delinsTG (p.Leu3259=) c.*1707_*1708delinsTG (n.*1707_*1708delinsTG) c.10094_10095delinsTG (p.Leu3365=) c.2561_2562delinsTG (p.Leu854=) n.2272_2273delinsTG c.10145_10146delinsTG (p.Leu3382=) c.10153_10154delinsTG (n.10153_10154delinsTG) c.10049_10050delinsTG (p.Leu3350=) | |
| 13 | g.32398659del | CA915948636 | BRCA2 | c.*669del (n.*669del) c.*1513del (n.*1513del) c.9777del (p.Lys3260AsnfsTer8) c.*1708del (n.*1708del) c.10095del (p.Lys3366AsnfsTer8) c.2562del (p.Lys855AsnfsTer8) n.2273del c.10146del (p.Lys3383AsnfsTer8) c.10154del (n.10154del) c.10050del (p.Lys3351AsnfsTer8) | ClinVar dbSNP |