UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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=) | ClinVar 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 |
| 13 | g.32398659G>A | CA483439959 | BRCA2 | c.*669G>A (n.*669G>A) c.*1513G>A (n.*1513G>A) c.9777G>A (p.Leu3259=) c.*1708G>A (n.*1708G>A) c.10095G>A (p.Leu3365=) c.2562G>A (p.Leu854=) n.2273G>A c.10146G>A (p.Leu3382=) c.10154G>A (n.10154G>A) c.10050G>A (p.Leu3350=) | |
| 13 | g.32398659G>C | CA483439960 | BRCA2 | c.*669G>C (n.*669G>C) c.*1513G>C (n.*1513G>C) c.9777G>C (p.Leu3259=) c.*1708G>C (n.*1708G>C) c.10095G>C (p.Leu3365=) c.2562G>C (p.Leu854=) n.2273G>C c.10146G>C (p.Leu3382=) c.10154G>C (n.10154G>C) c.10050G>C (p.Leu3350=) | ClinVar |
| 13 | g.32398659G>T | CA483439961 | BRCA2 | c.*669G>T (n.*669G>T) c.*1513G>T (n.*1513G>T) c.9777G>T (p.Leu3259=) c.*1708G>T (n.*1708G>T) c.10095G>T (p.Leu3365=) c.2562G>T (p.Leu854=) n.2273G>T c.10146G>T (p.Leu3382=) c.10154G>T (n.10154G>T) c.10050G>T (p.Leu3350=) | |
| 13 | g.32398660A>C | CA387768150 | BRCA2 | c.*670A>C (n.*670A>C) c.*1514A>C (n.*1514A>C) c.9778A>C (p.Lys3260Gln) c.*1709A>C (n.*1709A>C) c.10096A>C (p.Lys3366Gln) c.2563A>C (p.Lys855Gln) n.2274A>C c.10147A>C (p.Lys3383Gln) c.10155A>C (n.10155A>C) c.10051A>C (p.Lys3351Gln) | |
| 13 | g.32398660A>G | CA387768152 | BRCA2 | c.*670A>G (n.*670A>G) c.*1514A>G (n.*1514A>G) c.9778A>G (p.Lys3260Glu) c.*1709A>G (n.*1709A>G) c.10096A>G (p.Lys3366Glu) c.2563A>G (p.Lys855Glu) n.2274A>G c.10147A>G (p.Lys3383Glu) c.10155A>G (n.10155A>G) c.10051A>G (p.Lys3351Glu) | |
| 13 | g.32398660A>T | CA387768153 | BRCA2 | c.*670A>T (n.*670A>T) c.*1514A>T (n.*1514A>T) c.9778A>T (p.Lys3260Ter) c.*1709A>T (n.*1709A>T) c.10096A>T (p.Lys3366Ter) c.2563A>T (p.Lys855Ter) n.2274A>T c.10147A>T (p.Lys3383Ter) c.10155A>T (n.10155A>T) c.10051A>T (p.Lys3351Ter) | dbSNP |
| 13 | g.32398661A= | CA2082837703 | BRCA2 | c.*671A= (n.*671A=) c.*1515A= (n.*1515A=) c.9779A= (p.Lys3260=) c.*1710A= (n.*1710A=) c.10097A= (p.Lys3366=) c.2564A= (p.Lys855=) n.2275A= c.10148A= (p.Lys3383=) c.10156A= (n.10156A=) c.10052A= (p.Lys3351=) | |
| 13 | g.32398661A>C | CA387768155 | BRCA2 | c.*671A>C (n.*671A>C) c.*1515A>C (n.*1515A>C) c.9779A>C (p.Lys3260Thr) c.*1710A>C (n.*1710A>C) c.10097A>C (p.Lys3366Thr) c.2564A>C (p.Lys855Thr) n.2275A>C c.10148A>C (p.Lys3383Thr) c.10156A>C (n.10156A>C) c.10052A>C (p.Lys3351Thr) | ClinVar dbSNP |
| 13 | g.32398661A>G | CA10579858 | BRCA2 | c.*671A>G (n.*671A>G) c.*1515A>G (n.*1515A>G) c.9779A>G (p.Lys3260Arg) c.*1710A>G (n.*1710A>G) c.10097A>G (p.Lys3366Arg) c.2564A>G (p.Lys855Arg) n.2275A>G c.10148A>G (p.Lys3383Arg) c.10156A>G (n.10156A>G) c.10052A>G (p.Lys3351Arg) | ClinVar dbSNP |
| 13 | g.32398661A>T | CA387768156 | BRCA2 | c.*671A>T (n.*671A>T) c.*1515A>T (n.*1515A>T) c.9779A>T (p.Lys3260Ile) c.*1710A>T (n.*1710A>T) c.10097A>T (p.Lys3366Ile) c.2564A>T (p.Lys855Ile) n.2275A>T c.10148A>T (p.Lys3383Ile) c.10156A>T (n.10156A>T) c.10052A>T (p.Lys3351Ile) | dbSNP |
| 13 | g.32398662A>C | CA387768159 | BRCA2 | c.*672A>C (n.*672A>C) c.*1516A>C (n.*1516A>C) c.9780A>C (p.Lys3260Asn) c.*1711A>C (n.*1711A>C) c.10098A>C (p.Lys3366Asn) c.2565A>C (p.Lys855Asn) n.2276A>C c.10149A>C (p.Lys3383Asn) c.10157A>C (n.10157A>C) c.10053A>C (p.Lys3351Asn) | dbSNP |
| 13 | g.32398662A>G | CA483439966 | BRCA2 | c.*672A>G (n.*672A>G) c.*1516A>G (n.*1516A>G) c.9780A>G (p.Lys3260=) c.*1711A>G (n.*1711A>G) c.10098A>G (p.Lys3366=) c.2565A>G (p.Lys855=) n.2276A>G c.10149A>G (p.Lys3383=) c.10157A>G (n.10157A>G) c.10053A>G (p.Lys3351=) | ClinVar dbSNP |
| 13 | g.32398662A>T | CA387768160 | BRCA2 | c.*672A>T (n.*672A>T) c.*1516A>T (n.*1516A>T) c.9780A>T (p.Lys3260Asn) c.*1711A>T (n.*1711A>T) c.10098A>T (p.Lys3366Asn) c.2565A>T (p.Lys855Asn) n.2276A>T c.10149A>T (p.Lys3383Asn) c.10157A>T (n.10157A>T) c.10053A>T (p.Lys3351Asn) | dbSNP |
| 13 | g.32398663C>A | CA483439968 | BRCA2 | c.*673C>A (n.*673C>A) c.*1517C>A (n.*1517C>A) c.9781C>A (p.Arg3261=) c.*1712C>A (n.*1712C>A) c.10099C>A (p.Arg3367=) c.2566C>A (p.Arg856=) n.2277C>A c.10150C>A (p.Arg3384=) c.10158C>A (n.10158C>A) c.10054C>A (p.Arg3352=) | |
| 13 | g.32398663C= | CA2082837716 | BRCA2 | c.*673C= (n.*673C=) c.*1517C= (n.*1517C=) c.9781C= (p.Arg3261=) c.*1712C= (n.*1712C=) c.10099C= (p.Arg3367=) c.2566C= (p.Arg856=) n.2277C= c.10150C= (p.Arg3384=) c.10158C= (n.10158C=) c.10054C= (p.Arg3352=) | |
| 13 | g.32398663C>G | CA10575937 | BRCA2 | c.*673C>G (n.*673C>G) c.*1517C>G (n.*1517C>G) c.9781C>G (p.Arg3261Gly) c.*1712C>G (n.*1712C>G) c.10099C>G (p.Arg3367Gly) c.2566C>G (p.Arg856Gly) n.2277C>G c.10150C>G (p.Arg3384Gly) c.10158C>G (n.10158C>G) c.10054C>G (p.Arg3352Gly) | ClinVar dbSNP |
| 13 | g.32398663C>T | CA010347 | BRCA2 | c.*673C>T (n.*673C>T) c.*1517C>T (n.*1517C>T) c.9781C>T (p.Arg3261Ter) c.*1712C>T (n.*1712C>T) c.10099C>T (p.Arg3367Ter) c.2566C>T (p.Arg856Ter) n.2277C>T c.10150C>T (p.Arg3384Ter) c.10158C>T (n.10158C>T) c.10054C>T (p.Arg3352Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32398664G>A | CA010355 | BRCA2 | c.*674G>A (n.*674G>A) c.*1518G>A (n.*1518G>A) c.9782G>A (p.Arg3261Gln) c.*1713G>A (n.*1713G>A) c.10100G>A (p.Arg3367Gln) c.2567G>A (p.Arg856Gln) n.2278G>A c.10151G>A (p.Arg3384Gln) c.10159G>A (n.10159G>A) c.10055G>A (p.Arg3352Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32398664G>C | CA387768164 | BRCA2 | c.*674G>C (n.*674G>C) c.*1518G>C (n.*1518G>C) c.9782G>C (p.Arg3261Pro) c.*1713G>C (n.*1713G>C) c.10100G>C (p.Arg3367Pro) c.2567G>C (p.Arg856Pro) n.2278G>C c.10151G>C (p.Arg3384Pro) c.10159G>C (n.10159G>C) c.10055G>C (p.Arg3352Pro) | dbSNP |
| 13 | g.32398664G= | CA2082837731 | BRCA2 | c.*674G= (n.*674G=) c.*1518G= (n.*1518G=) c.9782G= (p.Arg3261=) c.*1713G= (n.*1713G=) c.10100G= (p.Arg3367=) c.2567G= (p.Arg856=) n.2278G= c.10151G= (p.Arg3384=) c.10159G= (n.10159G=) c.10055G= (p.Arg3352=) | |
| 13 | g.32398664G>T | CA387768165 | BRCA2 | c.*674G>T (n.*674G>T) c.*1518G>T (n.*1518G>T) c.9782G>T (p.Arg3261Leu) c.*1713G>T (n.*1713G>T) c.10100G>T (p.Arg3367Leu) c.2567G>T (p.Arg856Leu) n.2278G>T c.10151G>T (p.Arg3384Leu) c.10159G>T (n.10159G>T) c.10055G>T (p.Arg3352Leu) | |
| 13 | g.32398665A= | CA2082837747 | BRCA2 | c.*675A= (n.*675A=) c.*1519A= (n.*1519A=) c.9783A= (p.Arg3261=) c.*1714A= (n.*1714A=) c.10101A= (p.Arg3367=) c.2568A= (p.Arg856=) n.2279A= c.10152A= (p.Arg3384=) c.10160A= (n.10160A=) c.10056A= (p.Arg3352=) | |
| 13 | g.32398665A>C | CA483439971 | BRCA2 | c.*675A>C (n.*675A>C) c.*1519A>C (n.*1519A>C) c.9783A>C (p.Arg3261=) c.*1714A>C (n.*1714A>C) c.10101A>C (p.Arg3367=) c.2568A>C (p.Arg856=) n.2279A>C c.10152A>C (p.Arg3384=) c.10160A>C (n.10160A>C) c.10056A>C (p.Arg3352=) | |
| 13 | g.32398665A>G | CA16606836 | BRCA2 | c.*675A>G (n.*675A>G) c.*1519A>G (n.*1519A>G) c.9783A>G (p.Arg3261=) c.*1714A>G (n.*1714A>G) c.10101A>G (p.Arg3367=) c.2568A>G (p.Arg856=) n.2279A>G c.10152A>G (p.Arg3384=) c.10160A>G (n.10160A>G) c.10056A>G (p.Arg3352=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398665A>T | CA6941476 | BRCA2 | c.*675A>T (n.*675A>T) c.*1519A>T (n.*1519A>T) c.9783A>T (p.Arg3261=) c.*1714A>T (n.*1714A>T) c.10101A>T (p.Arg3367=) c.2568A>T (p.Arg856=) n.2279A>T c.10152A>T (p.Arg3384=) c.10160A>T (n.10160A>T) c.10056A>T (p.Arg3352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32398666C>A | CA387768169 | BRCA2 | c.*676C>A (n.*676C>A) c.*1520C>A (n.*1520C>A) c.9784C>A (p.Arg3262Ser) c.*1715C>A (n.*1715C>A) c.10102C>A (p.Arg3368Ser) c.2569C>A (p.Arg857Ser) n.2280C>A c.10153C>A (p.Arg3385Ser) c.10161C>A (n.10161C>A) c.10057C>A (p.Arg3353Ser) | dbSNP |
| 13 | g.32398666C= | CA2082837755 | BRCA2 | c.*676C= (n.*676C=) c.*1520C= (n.*1520C=) c.9784C= (p.Arg3262=) c.*1715C= (n.*1715C=) c.10102C= (p.Arg3368=) c.2569C= (p.Arg857=) n.2280C= c.10153C= (p.Arg3385=) c.10161C= (n.10161C=) c.10057C= (p.Arg3353=) | |
| 13 | g.32398666C>G | CA387768170 | BRCA2 | c.*676C>G (n.*676C>G) c.*1520C>G (n.*1520C>G) c.9784C>G (p.Arg3262Gly) c.*1715C>G (n.*1715C>G) c.10102C>G (p.Arg3368Gly) c.2569C>G (p.Arg857Gly) n.2280C>G c.10153C>G (p.Arg3385Gly) c.10161C>G (n.10161C>G) c.10057C>G (p.Arg3353Gly) | dbSNP |
| 13 | g.32398666C>T | CA010364 | BRCA2 | c.*676C>T (n.*676C>T) c.*1520C>T (n.*1520C>T) c.9784C>T (p.Arg3262Cys) c.*1715C>T (n.*1715C>T) c.10102C>T (p.Arg3368Cys) c.2569C>T (p.Arg857Cys) n.2280C>T c.10153C>T (p.Arg3385Cys) c.10161C>T (n.10161C>T) c.10057C>T (p.Arg3353Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398667G>A | CA010372 | BRCA2 | c.*677G>A (n.*677G>A) c.*1521G>A (n.*1521G>A) c.9785G>A (p.Arg3262His) c.*1716G>A (n.*1716G>A) c.10103G>A (p.Arg3368His) c.2570G>A (p.Arg857His) n.2281G>A c.10154G>A (p.Arg3385His) c.10162G>A (n.10162G>A) c.10058G>A (p.Arg3353His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398667G>C | CA387768174 | BRCA2 | c.*677G>C (n.*677G>C) c.*1521G>C (n.*1521G>C) c.9785G>C (p.Arg3262Pro) c.*1716G>C (n.*1716G>C) c.10103G>C (p.Arg3368Pro) c.2570G>C (p.Arg857Pro) n.2281G>C c.10154G>C (p.Arg3385Pro) c.10162G>C (n.10162G>C) c.10058G>C (p.Arg3353Pro) | dbSNP |
| 13 | g.32398667G= | CA2082837774 | BRCA2 | c.*677G= (n.*677G=) c.*1521G= (n.*1521G=) c.9785G= (p.Arg3262=) c.*1716G= (n.*1716G=) c.10103G= (p.Arg3368=) c.2570G= (p.Arg857=) n.2281G= c.10154G= (p.Arg3385=) c.10162G= (n.10162G=) c.10058G= (p.Arg3353=) |