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.32398487_32398571del | CA609453952 | BRCA2 | c.*497_*581del (n.*497_*581del) c.*1341_*1425del (n.*1341_*1425del) c.9605_9689del (p.Phe3202CysfsTer30) c.*1536_*1620del (n.*1536_*1620del) c.9923_10007del (p.Phe3308CysfsTer30) c.2390_2474del (p.Phe797CysfsTer30) n.2101_2185del c.9974_10058del (p.Phe3325CysfsTer30) c.9982_10066del (n.9982_10066del) c.9878_9962del (p.Phe3293CysfsTer30) | ClinVar gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398546_32398548delinsGCA | CA2082836644 | BRCA2 | c.*556_*558delinsGCA (n.*556_*558delinsGCA) c.*1400_*1402delinsGCA (n.*1400_*1402delinsGCA) c.9664_9666delinsGCA (p.Ala3222=) c.*1595_*1597delinsGCA (n.*1595_*1597delinsGCA) c.9982_9984delinsGCA (p.Ala3328=) c.2449_2451delinsGCA (p.Ala817=) n.2160_2162delinsGCA c.10033_10035delinsGCA (p.Ala3345=) c.10041_10043delinsGCA (n.10041_10043delinsGCA) c.9937_9939delinsGCA (p.Ala3313=) | |
| 13 | g.32398546_32398548delinsTCT | CA913190453 | BRCA2 | c.*556_*558delinsTCT (n.*556_*558delinsTCT) c.*1400_*1402delinsTCT (n.*1400_*1402delinsTCT) c.9664_9666delinsTCT (p.Ala3222Ser) c.*1595_*1597delinsTCT (n.*1595_*1597delinsTCT) c.9982_9984delinsTCT (p.Ala3328Ser) c.2449_2451delinsTCT (p.Ala817Ser) n.2160_2162delinsTCT c.10033_10035delinsTCT (p.Ala3345Ser) c.10041_10043delinsTCT (n.10041_10043delinsTCT) c.9937_9939delinsTCT (p.Ala3313Ser) | ClinVar dbSNP |
| 13 | g.32398548A= | CA2082836661 | BRCA2 | c.*558A= (n.*558A=) c.*1402A= (n.*1402A=) c.9666A= (p.Ala3222=) c.*1597A= (n.*1597A=) c.9984A= (p.Ala3328=) c.2451A= (p.Ala817=) n.2162A= c.10035A= (p.Ala3345=) c.10043A= (n.10043A=) c.9939A= (p.Ala3313=) | |
| 13 | g.32398548A>C | CA483440358 | BRCA2 | c.*558A>C (n.*558A>C) c.*1402A>C (n.*1402A>C) c.9666A>C (p.Ala3222=) c.*1597A>C (n.*1597A>C) c.9984A>C (p.Ala3328=) c.2451A>C (p.Ala817=) n.2162A>C c.10035A>C (p.Ala3345=) c.10043A>C (n.10043A>C) c.9939A>C (p.Ala3313=) | dbSNP |
| 13 | g.32398548A>G | CA16607506 | BRCA2 | c.*558A>G (n.*558A>G) c.*1402A>G (n.*1402A>G) c.9666A>G (p.Ala3222=) c.*1597A>G (n.*1597A>G) c.9984A>G (p.Ala3328=) c.2451A>G (p.Ala817=) n.2162A>G c.10035A>G (p.Ala3345=) c.10043A>G (n.10043A>G) c.9939A>G (p.Ala3313=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398548A>T | CA483440359 | BRCA2 | c.*558A>T (n.*558A>T) c.*1402A>T (n.*1402A>T) c.9666A>T (p.Ala3222=) c.*1597A>T (n.*1597A>T) c.9984A>T (p.Ala3328=) c.2451A>T (p.Ala817=) n.2162A>T c.10035A>T (p.Ala3345=) c.10043A>T (n.10043A>T) c.9939A>T (p.Ala3313=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32398549T>A | CA387767784 | BRCA2 | c.*559T>A (n.*559T>A) c.*1403T>A (n.*1403T>A) c.9667T>A (p.Leu3223Met) c.*1598T>A (n.*1598T>A) c.9985T>A (p.Leu3329Met) c.2452T>A (p.Leu818Met) n.2163T>A c.10036T>A (p.Leu3346Met) c.10044T>A (n.10044T>A) c.9940T>A (p.Leu3314Met) | dbSNP |
| 13 | g.32398549T>C | CA483440362 | BRCA2 | c.*559T>C (n.*559T>C) c.*1403T>C (n.*1403T>C) c.9667T>C (p.Leu3223=) c.*1598T>C (n.*1598T>C) c.9985T>C (p.Leu3329=) c.2452T>C (p.Leu818=) n.2163T>C c.10036T>C (p.Leu3346=) c.10044T>C (n.10044T>C) c.9940T>C (p.Leu3314=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32398549T>G | CA387767785 | BRCA2 | c.*559T>G (n.*559T>G) c.*1403T>G (n.*1403T>G) c.9667T>G (p.Leu3223Val) c.*1598T>G (n.*1598T>G) c.9985T>G (p.Leu3329Val) c.2452T>G (p.Leu818Val) n.2163T>G c.10036T>G (p.Leu3346Val) c.10044T>G (n.10044T>G) c.9940T>G (p.Leu3314Val) | |
| 13 | g.32398549T= | CA2082836666 | BRCA2 | c.*559T= (n.*559T=) c.*1403T= (n.*1403T=) c.9667T= (p.Leu3223=) c.*1598T= (n.*1598T=) c.9985T= (p.Leu3329=) c.2452T= (p.Leu818=) n.2163T= c.10036T= (p.Leu3346=) c.10044T= (n.10044T=) c.9940T= (p.Leu3314=) | |
| 13 | g.32398550T>A | CA387767787 | BRCA2 | c.*560T>A (n.*560T>A) c.*1404T>A (n.*1404T>A) c.9668T>A (p.Leu3223Ter) c.*1599T>A (n.*1599T>A) c.9986T>A (p.Leu3329Ter) c.2453T>A (p.Leu818Ter) n.2164T>A c.10037T>A (p.Leu3346Ter) c.10045T>A (n.10045T>A) c.9941T>A (p.Leu3314Ter) | ClinVar dbSNP |
| 13 | g.32398550T>C | CA387767789 | BRCA2 | c.*560T>C (n.*560T>C) c.*1404T>C (n.*1404T>C) c.9668T>C (p.Leu3223Ser) c.*1599T>C (n.*1599T>C) c.9986T>C (p.Leu3329Ser) c.2453T>C (p.Leu818Ser) n.2164T>C c.10037T>C (p.Leu3346Ser) c.10045T>C (n.10045T>C) c.9941T>C (p.Leu3314Ser) | |
| 13 | g.32398550T>G | CA387767790 | BRCA2 | c.*560T>G (n.*560T>G) c.*1404T>G (n.*1404T>G) c.9668T>G (p.Leu3223Trp) c.*1599T>G (n.*1599T>G) c.9986T>G (p.Leu3329Trp) c.2453T>G (p.Leu818Trp) n.2164T>G c.10037T>G (p.Leu3346Trp) c.10045T>G (n.10045T>G) c.9941T>G (p.Leu3314Trp) | |
| 13 | g.32398551G>A | CA483440366 | BRCA2 | c.*561G>A (n.*561G>A) c.*1405G>A (n.*1405G>A) c.9669G>A (p.Leu3223=) c.*1600G>A (n.*1600G>A) c.9987G>A (p.Leu3329=) c.2454G>A (p.Leu818=) n.2165G>A c.10038G>A (p.Leu3346=) c.10046G>A (n.10046G>A) c.9942G>A (p.Leu3314=) | ClinVar dbSNP |
| 13 | g.32398551G>C | CA387767793 | BRCA2 | c.*561G>C (n.*561G>C) c.*1405G>C (n.*1405G>C) c.9669G>C (p.Leu3223Phe) c.*1600G>C (n.*1600G>C) c.9987G>C (p.Leu3329Phe) c.2454G>C (p.Leu818Phe) n.2165G>C c.10038G>C (p.Leu3346Phe) c.10046G>C (n.10046G>C) c.9942G>C (p.Leu3314Phe) | dbSNP |
| 13 | g.32398551G= | CA2082836670 | BRCA2 | c.*561G= (n.*561G=) c.*1405G= (n.*1405G=) c.9669G= (p.Leu3223=) c.*1600G= (n.*1600G=) c.9987G= (p.Leu3329=) c.2454G= (p.Leu818=) n.2165G= c.10038G= (p.Leu3346=) c.10046G= (n.10046G=) c.9942G= (p.Leu3314=) | |
| 13 | g.32398551G>T | CA387767794 | BRCA2 | c.*561G>T (n.*561G>T) c.*1405G>T (n.*1405G>T) c.9669G>T (p.Leu3223Phe) c.*1600G>T (n.*1600G>T) c.9987G>T (p.Leu3329Phe) c.2454G>T (p.Leu818Phe) n.2165G>T c.10038G>T (p.Leu3346Phe) c.10046G>T (n.10046G>T) c.9942G>T (p.Leu3314Phe) | |
| 13 | g.32398552A>C | CA387767795 | BRCA2 | c.*562A>C (n.*562A>C) c.*1406A>C (n.*1406A>C) c.9670A>C (p.Ile3224Leu) c.*1601A>C (n.*1601A>C) c.9988A>C (p.Ile3330Leu) c.2455A>C (p.Ile819Leu) n.2166A>C c.10039A>C (p.Ile3347Leu) c.10047A>C (n.10047A>C) c.9943A>C (p.Ile3315Leu) | dbSNP |
| 13 | g.32398552A>G | CA387767796 | BRCA2 | c.*562A>G (n.*562A>G) c.*1406A>G (n.*1406A>G) c.9670A>G (p.Ile3224Val) c.*1601A>G (n.*1601A>G) c.9988A>G (p.Ile3330Val) c.2455A>G (p.Ile819Val) n.2166A>G c.10039A>G (p.Ile3347Val) c.10047A>G (n.10047A>G) c.9943A>G (p.Ile3315Val) | ClinVar dbSNP |
| 13 | g.32398552A>T | CA387767798 | BRCA2 | c.*562A>T (n.*562A>T) c.*1406A>T (n.*1406A>T) c.9670A>T (p.Ile3224Leu) c.*1601A>T (n.*1601A>T) c.9988A>T (p.Ile3330Leu) c.2455A>T (p.Ile819Leu) n.2166A>T c.10039A>T (p.Ile3347Leu) c.10047A>T (n.10047A>T) c.9943A>T (p.Ile3315Leu) | dbSNP |
| 13 | g.32398553T>A | CA387767800 | BRCA2 | c.*563T>A (n.*563T>A) c.*1407T>A (n.*1407T>A) c.9671T>A (p.Ile3224Lys) c.*1602T>A (n.*1602T>A) c.9989T>A (p.Ile3330Lys) c.2456T>A (p.Ile819Lys) n.2167T>A c.10040T>A (p.Ile3347Lys) c.10048T>A (n.10048T>A) c.9944T>A (p.Ile3315Lys) | |
| 13 | g.32398553T>C | CA010089 | BRCA2 | c.*563T>C (n.*563T>C) c.*1407T>C (n.*1407T>C) c.9671T>C (p.Ile3224Thr) c.*1602T>C (n.*1602T>C) c.9989T>C (p.Ile3330Thr) c.2456T>C (p.Ile819Thr) n.2167T>C c.10040T>C (p.Ile3347Thr) c.10048T>C (n.10048T>C) c.9944T>C (p.Ile3315Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32398553T>G | CA387767802 | BRCA2 | c.*563T>G (n.*563T>G) c.*1407T>G (n.*1407T>G) c.9671T>G (p.Ile3224Arg) c.*1602T>G (n.*1602T>G) c.9989T>G (p.Ile3330Arg) c.2456T>G (p.Ile819Arg) n.2167T>G c.10040T>G (p.Ile3347Arg) c.10048T>G (n.10048T>G) c.9944T>G (p.Ile3315Arg) | ClinVar dbSNP |
| 13 | g.32398553T= | CA2082836682 | BRCA2 | c.*563T= (n.*563T=) c.*1407T= (n.*1407T=) c.9671T= (p.Ile3224=) c.*1602T= (n.*1602T=) c.9989T= (p.Ile3330=) c.2456T= (p.Ile819=) n.2167T= c.10040T= (p.Ile3347=) c.10048T= (n.10048T=) c.9944T= (p.Ile3315=) | |
| 13 | g.32398554A= | CA2082836694 | BRCA2 | c.*564A= (n.*564A=) c.*1408A= (n.*1408A=) c.9672A= (p.Ile3224=) c.*1603A= (n.*1603A=) c.9990A= (p.Ile3330=) c.2457A= (p.Ile819=) n.2168A= c.10041A= (p.Ile3347=) c.10049A= (n.10049A=) c.9945A= (p.Ile3315=) | |
| 13 | g.32398554A>C | CA483440373 | BRCA2 | c.*564A>C (n.*564A>C) c.*1408A>C (n.*1408A>C) c.9672A>C (p.Ile3224=) c.*1603A>C (n.*1603A>C) c.9990A>C (p.Ile3330=) c.2457A>C (p.Ile819=) n.2168A>C c.10041A>C (p.Ile3347=) c.10049A>C (n.10049A>C) c.9945A>C (p.Ile3315=) | |
| 13 | g.32398554A>G | CA10579855 | BRCA2 | c.*564A>G (n.*564A>G) c.*1408A>G (n.*1408A>G) c.9672A>G (p.Ile3224Met) c.*1603A>G (n.*1603A>G) c.9990A>G (p.Ile3330Met) c.2457A>G (p.Ile819Met) n.2168A>G c.10041A>G (p.Ile3347Met) c.10049A>G (n.10049A>G) c.9945A>G (p.Ile3315Met) | ClinVar dbSNP |
| 13 | g.32398554A>T | CA483440369 | BRCA2 | c.*564A>T (n.*564A>T) c.*1408A>T (n.*1408A>T) c.9672A>T (p.Ile3224=) c.*1603A>T (n.*1603A>T) c.9990A>T (p.Ile3330=) c.2457A>T (p.Ile819=) n.2168A>T c.10041A>T (p.Ile3347=) c.10049A>T (n.10049A>T) c.9945A>T (p.Ile3315=) | ClinVar dbSNP |
| 13 | g.32398556del | CA2695217837 | BRCA2 | c.*566del (n.*566del) c.*1410del (n.*1410del) c.9674del (p.Asn3225IlefsTer?) c.*1605del (n.*1605del) c.9992del (p.Asn3331IlefsTer?) c.2459del (p.Asn820IlefsTer?) n.2170del c.10043del (p.Asn3348IlefsTer?) c.10051del (n.10051del) c.9947del (p.Asn3316IlefsTer?) | |
| 13 | g.32398555A>C | CA387767808 | BRCA2 | c.*565A>C (n.*565A>C) c.*1409A>C (n.*1409A>C) c.9673A>C (p.Asn3225His) c.*1604A>C (n.*1604A>C) c.9991A>C (p.Asn3331His) c.2458A>C (p.Asn820His) n.2169A>C c.10042A>C (p.Asn3348His) c.10050A>C (n.10050A>C) c.9946A>C (p.Asn3316His) | |
| 13 | g.32398555A>G | CA387767806 | BRCA2 | c.*565A>G (n.*565A>G) c.*1409A>G (n.*1409A>G) c.9673A>G (p.Asn3225Asp) c.*1604A>G (n.*1604A>G) c.9991A>G (p.Asn3331Asp) c.2458A>G (p.Asn820Asp) n.2169A>G c.10042A>G (p.Asn3348Asp) c.10050A>G (n.10050A>G) c.9946A>G (p.Asn3316Asp) | |
| 13 | g.32398555A>T | CA387767804 | BRCA2 | c.*565A>T (n.*565A>T) c.*1409A>T (n.*1409A>T) c.9673A>T (p.Asn3225Tyr) c.*1604A>T (n.*1604A>T) c.9991A>T (p.Asn3331Tyr) c.2458A>T (p.Asn820Tyr) n.2169A>T c.10042A>T (p.Asn3348Tyr) c.10050A>T (n.10050A>T) c.9946A>T (p.Asn3316Tyr) | dbSNP |
| 13 | g.32398556A= | CA2082836709 | BRCA2 | c.*566A= (n.*566A=) c.*1410A= (n.*1410A=) c.9674A= (p.Asn3225=) c.*1605A= (n.*1605A=) c.9992A= (p.Asn3331=) c.2459A= (p.Asn820=) n.2170A= c.10043A= (p.Asn3348=) c.10051A= (n.10051A=) c.9947A= (p.Asn3316=) | |
| 13 | g.32398556A>C | CA387767809 | BRCA2 | c.*566A>C (n.*566A>C) c.*1410A>C (n.*1410A>C) c.9674A>C (p.Asn3225Thr) c.*1605A>C (n.*1605A>C) c.9992A>C (p.Asn3331Thr) c.2459A>C (p.Asn820Thr) n.2170A>C c.10043A>C (p.Asn3348Thr) c.10051A>C (n.10051A>C) c.9947A>C (p.Asn3316Thr) | dbSNP |
| 13 | g.32398556A>G | CA336150 | BRCA2 | c.*566A>G (n.*566A>G) c.*1410A>G (n.*1410A>G) c.9674A>G (p.Asn3225Ser) c.*1605A>G (n.*1605A>G) c.9992A>G (p.Asn3331Ser) c.2459A>G (p.Asn820Ser) n.2170A>G c.10043A>G (p.Asn3348Ser) c.10051A>G (n.10051A>G) c.9947A>G (p.Asn3316Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32398556A>T | CA387767812 | BRCA2 | c.*566A>T (n.*566A>T) c.*1410A>T (n.*1410A>T) c.9674A>T (p.Asn3225Ile) c.*1605A>T (n.*1605A>T) c.9992A>T (p.Asn3331Ile) c.2459A>T (p.Asn820Ile) n.2170A>T c.10043A>T (p.Asn3348Ile) c.10051A>T (n.10051A>T) c.9947A>T (p.Asn3316Ile) | |
| 13 | g.32398557T>A | CA387767813 | BRCA2 | c.*567T>A (n.*567T>A) c.*1411T>A (n.*1411T>A) c.9675T>A (p.Asn3225Lys) c.*1606T>A (n.*1606T>A) c.9993T>A (p.Asn3331Lys) c.2460T>A (p.Asn820Lys) n.2171T>A c.10044T>A (p.Asn3348Lys) c.10052T>A (n.10052T>A) c.9948T>A (p.Asn3316Lys) | dbSNP |
| 13 | g.32398557T>C | CA483440379 | BRCA2 | c.*567T>C (n.*567T>C) c.*1411T>C (n.*1411T>C) c.9675T>C (p.Asn3225=) c.*1606T>C (n.*1606T>C) c.9993T>C (p.Asn3331=) c.2460T>C (p.Asn820=) n.2171T>C c.10044T>C (p.Asn3348=) c.10052T>C (n.10052T>C) c.9948T>C (p.Asn3316=) | ClinVar dbSNP |
| 13 | g.32398557T>G | CA387767814 | BRCA2 | c.*567T>G (n.*567T>G) c.*1411T>G (n.*1411T>G) c.9675T>G (p.Asn3225Lys) c.*1606T>G (n.*1606T>G) c.9993T>G (p.Asn3331Lys) c.2460T>G (p.Asn820Lys) n.2171T>G c.10044T>G (p.Asn3348Lys) c.10052T>G (n.10052T>G) c.9948T>G (p.Asn3316Lys) | |
| 13 | g.32398558A= | CA2082836720 | BRCA2 | c.*568A= (n.*568A=) c.*1412A= (n.*1412A=) c.9676A= (p.Thr3226=) c.*1607A= (n.*1607A=) c.9994A= (p.Thr3332=) c.2461A= (p.Thr821=) n.2172A= c.10045A= (p.Thr3349=) c.10053A= (n.10053A=) c.9949A= (p.Thr3317=) | |
| 13 | g.32398558A>C | CA387767816 | BRCA2 | c.*568A>C (n.*568A>C) c.*1412A>C (n.*1412A>C) c.9676A>C (p.Thr3226Pro) c.*1607A>C (n.*1607A>C) c.9994A>C (p.Thr3332Pro) c.2461A>C (p.Thr821Pro) n.2172A>C c.10045A>C (p.Thr3349Pro) c.10053A>C (n.10053A>C) c.9949A>C (p.Thr3317Pro) | |
| 13 | g.32398558A>G | CA010094 | BRCA2 | c.*568A>G (n.*568A>G) c.*1412A>G (n.*1412A>G) c.9676A>G (p.Thr3226Ala) c.*1607A>G (n.*1607A>G) c.9994A>G (p.Thr3332Ala) c.2461A>G (p.Thr821Ala) n.2172A>G c.10045A>G (p.Thr3349Ala) c.10053A>G (n.10053A>G) c.9949A>G (p.Thr3317Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.32398558A>T | CA387767818 | BRCA2 | c.*568A>T (n.*568A>T) c.*1412A>T (n.*1412A>T) c.9676A>T (p.Thr3226Ser) c.*1607A>T (n.*1607A>T) c.9994A>T (p.Thr3332Ser) c.2461A>T (p.Thr821Ser) n.2172A>T c.10045A>T (p.Thr3349Ser) c.10053A>T (n.10053A>T) c.9949A>T (p.Thr3317Ser) | |
| 13 | g.32398559C>A | CA387767820 | BRCA2 | c.*569C>A (n.*569C>A) c.*1413C>A (n.*1413C>A) c.9677C>A (p.Thr3226Asn) c.*1608C>A (n.*1608C>A) c.9995C>A (p.Thr3332Asn) c.2462C>A (p.Thr821Asn) n.2173C>A c.10046C>A (p.Thr3349Asn) c.10054C>A (n.10054C>A) c.9950C>A (p.Thr3317Asn) | ClinVar dbSNP |
| 13 | g.32398559C= | CA2082836747 | BRCA2 | c.*569C= (n.*569C=) c.*1413C= (n.*1413C=) c.9677C= (p.Thr3226=) c.*1608C= (n.*1608C=) c.9995C= (p.Thr3332=) c.2462C= (p.Thr821=) n.2173C= c.10046C= (p.Thr3349=) c.10054C= (n.10054C=) c.9950C= (p.Thr3317=) | |
| 13 | g.32398559C>G | CA387767821 | BRCA2 | c.*569C>G (n.*569C>G) c.*1413C>G (n.*1413C>G) c.9677C>G (p.Thr3226Ser) c.*1608C>G (n.*1608C>G) c.9995C>G (p.Thr3332Ser) c.2462C>G (p.Thr821Ser) n.2173C>G c.10046C>G (p.Thr3349Ser) c.10054C>G (n.10054C>G) c.9950C>G (p.Thr3317Ser) | dbSNP |