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.32398287_32398292dup | CA2622602748 | BRCA2 | c.*297_*302dup (n.*297_*302dup) c.*1141_*1146dup (n.*1141_*1146dup) c.9405_9410dup (p.Ile3136_Asp3137insGluIle) c.*1336_*1341dup (n.*1336_*1341dup) c.9723_9728dup (p.Ile3242_Asp3243insGluIle) c.2190_2195dup (p.Ile731_Asp732insGluIle) n.1901_1906dup c.9774_9779dup (p.Ile3259_Asp3260insGluIle) c.9782_9787dup (n.9782_9787dup) n.362_367dup c.9678_9683dup (p.Ile3227_Asp3228insGluIle) | gnomAD v4 |
| 13 | g.32398288_32398289delinsAT | CA2082835044 | BRCA2 | c.*298_*299delinsAT (n.*298_*299delinsAT) c.*1142_*1143delinsAT (n.*1142_*1143delinsAT) c.9406_9407delinsAT (p.Ile3136=) c.*1337_*1338delinsAT (n.*1337_*1338delinsAT) c.9724_9725delinsAT (p.Ile3242=) c.2191_2192delinsAT (p.Ile731=) n.1902_1903delinsAT c.9775_9776delinsAT (p.Ile3259=) c.9783_9784delinsAT (n.9783_9784delinsAT) n.363_364delinsAT c.9679_9680delinsAT (p.Ile3227=) | |
| 13 | g.32398289T>A | CA387765862 | BRCA2 | c.*299T>A (n.*299T>A) c.*1143T>A (n.*1143T>A) c.9407T>A (p.Ile3136Asn) c.*1338T>A (n.*1338T>A) c.9725T>A (p.Ile3242Asn) c.2192T>A (p.Ile731Asn) n.1903T>A c.9776T>A (p.Ile3259Asn) c.9784T>A (n.9784T>A) n.364T>A c.9680T>A (p.Ile3227Asn) | dbSNP |
| 13 | g.32398289T>C | CA10585903 | BRCA2 | c.*299T>C (n.*299T>C) c.*1143T>C (n.*1143T>C) c.9407T>C (p.Ile3136Thr) c.*1338T>C (n.*1338T>C) c.9725T>C (p.Ile3242Thr) c.2192T>C (p.Ile731Thr) n.1903T>C c.9776T>C (p.Ile3259Thr) c.9784T>C (n.9784T>C) n.364T>C c.9680T>C (p.Ile3227Thr) | ClinVar dbSNP |
| 13 | g.32398289T>G | CA387765859 | BRCA2 | c.*299T>G (n.*299T>G) c.*1143T>G (n.*1143T>G) c.9407T>G (p.Ile3136Ser) c.*1338T>G (n.*1338T>G) c.9725T>G (p.Ile3242Ser) c.2192T>G (p.Ile731Ser) n.1903T>G c.9776T>G (p.Ile3259Ser) c.9784T>G (n.9784T>G) n.364T>G c.9680T>G (p.Ile3227Ser) | ClinVar dbSNP |
| 13 | g.32398289T= | CA2082835056 | BRCA2 | c.*299T= (n.*299T=) c.*1143T= (n.*1143T=) c.9407T= (p.Ile3136=) c.*1338T= (n.*1338T=) c.9725T= (p.Ile3242=) c.2192T= (p.Ile731=) n.1903T= c.9776T= (p.Ile3259=) c.9784T= (n.9784T=) n.364T= c.9680T= (p.Ile3227=) | |
| 13 | g.32398290del | CA913188612 | BRCA2 | c.*300del (n.*300del) c.*1144del (n.*1144del) c.9408del (p.Ile3136MetfsTer16) c.*1339del (n.*1339del) c.9726del (p.Ile3242MetfsTer16) c.2193del (p.Ile731MetfsTer16) n.1904del c.9777del (p.Ile3259MetfsTer16) c.9785del (n.9785del) n.365del c.9681del (p.Ile3227MetfsTer16) | ClinVar dbSNP |
| 13 | g.32398290T>A | CA483440057 | BRCA2 | c.*300T>A (n.*300T>A) c.*1144T>A (n.*1144T>A) c.9408T>A (p.Ile3136=) c.*1339T>A (n.*1339T>A) c.9726T>A (p.Ile3242=) c.2193T>A (p.Ile731=) n.1904T>A c.9777T>A (p.Ile3259=) c.9785T>A (n.9785T>A) n.365T>A c.9681T>A (p.Ile3227=) | dbSNP |
| 13 | g.32398290T>C | CA483440058 | BRCA2 | c.*300T>C (n.*300T>C) c.*1144T>C (n.*1144T>C) c.9408T>C (p.Ile3136=) c.*1339T>C (n.*1339T>C) c.9726T>C (p.Ile3242=) c.2193T>C (p.Ile731=) n.1904T>C c.9777T>C (p.Ile3259=) c.9785T>C (n.9785T>C) n.365T>C c.9681T>C (p.Ile3227=) | ClinVar dbSNP |
| 13 | g.32398290T>G | CA387765868 | BRCA2 | c.*300T>G (n.*300T>G) c.*1144T>G (n.*1144T>G) c.9408T>G (p.Ile3136Met) c.*1339T>G (n.*1339T>G) c.9726T>G (p.Ile3242Met) c.2193T>G (p.Ile731Met) n.1904T>G c.9777T>G (p.Ile3259Met) c.9785T>G (n.9785T>G) n.365T>G c.9681T>G (p.Ile3227Met) | ClinVar dbSNP |
| 13 | g.32398290T= | CA2082835070 | BRCA2 | c.*300T= (n.*300T=) c.*1144T= (n.*1144T=) c.9408T= (p.Ile3136=) c.*1339T= (n.*1339T=) c.9726T= (p.Ile3242=) c.2193T= (p.Ile731=) n.1904T= c.9777T= (p.Ile3259=) c.9785T= (n.9785T=) n.365T= c.9681T= (p.Ile3227=) | |
| 13 | g.32398291G>A | CA387765872 | BRCA2 | c.*301G>A (n.*301G>A) c.*1145G>A (n.*1145G>A) c.9409G>A (p.Asp3137Asn) c.*1340G>A (n.*1340G>A) c.9727G>A (p.Asp3243Asn) c.2194G>A (p.Asp732Asn) n.1905G>A c.9778G>A (p.Asp3260Asn) c.9786G>A (n.9786G>A) n.366G>A c.9682G>A (p.Asp3228Asn) | dbSNP |
| 13 | g.32398291G>C | CA387765881 | BRCA2 | c.*301G>C (n.*301G>C) c.*1145G>C (n.*1145G>C) c.9409G>C (p.Asp3137His) c.*1340G>C (n.*1340G>C) c.9727G>C (p.Asp3243His) c.2194G>C (p.Asp732His) n.1905G>C c.9778G>C (p.Asp3260His) c.9786G>C (n.9786G>C) n.366G>C c.9682G>C (p.Asp3228His) | dbSNP |
| 13 | g.32398291G>T | CA387765884 | BRCA2 | c.*301G>T (n.*301G>T) c.*1145G>T (n.*1145G>T) c.9409G>T (p.Asp3137Tyr) c.*1340G>T (n.*1340G>T) c.9727G>T (p.Asp3243Tyr) c.2194G>T (p.Asp732Tyr) n.1905G>T c.9778G>T (p.Asp3260Tyr) c.9786G>T (n.9786G>T) n.366G>T c.9682G>T (p.Asp3228Tyr) | dbSNP |
| 13 | g.32398291_32398293delinsGAT | CA2082835086 | BRCA2 | c.*301_*303delinsGAT (n.*301_*303delinsGAT) c.*1145_*1147delinsGAT (n.*1145_*1147delinsGAT) c.9409_9411delinsGAT (p.Asp3137=) c.*1340_*1342delinsGAT (n.*1340_*1342delinsGAT) c.9727_9729delinsGAT (p.Asp3243=) c.2194_2196delinsGAT (p.Asp732=) n.1905_1907delinsGAT c.9778_9780delinsGAT (p.Asp3260=) c.9786_9788delinsGAT (n.9786_9788delinsGAT) n.366_368delinsGAT c.9682_9684delinsGAT (p.Asp3228=) | |
| 13 | g.32398292A>C | CA387765899 | BRCA2 | c.*302A>C (n.*302A>C) c.*1146A>C (n.*1146A>C) c.9410A>C (p.Asp3137Ala) c.*1341A>C (n.*1341A>C) c.9728A>C (p.Asp3243Ala) c.2195A>C (p.Asp732Ala) n.1906A>C c.9779A>C (p.Asp3260Ala) c.9787A>C (n.9787A>C) n.367A>C c.9683A>C (p.Asp3228Ala) | |
| 13 | g.32398292A>G | CA387765892 | BRCA2 | c.*302A>G (n.*302A>G) c.*1146A>G (n.*1146A>G) c.9410A>G (p.Asp3137Gly) c.*1341A>G (n.*1341A>G) c.9728A>G (p.Asp3243Gly) c.2195A>G (p.Asp732Gly) n.1906A>G c.9779A>G (p.Asp3260Gly) c.9787A>G (n.9787A>G) n.367A>G c.9683A>G (p.Asp3228Gly) | dbSNP |
| 13 | g.32398292A>T | CA387765893 | BRCA2 | c.*302A>T (n.*302A>T) c.*1146A>T (n.*1146A>T) c.9410A>T (p.Asp3137Val) c.*1341A>T (n.*1341A>T) c.9728A>T (p.Asp3243Val) c.2195A>T (p.Asp732Val) n.1906A>T c.9779A>T (p.Asp3260Val) c.9787A>T (n.9787A>T) n.367A>T c.9683A>T (p.Asp3228Val) | dbSNP |
| 13 | g.32398292_32398293del | CA915948632 | BRCA2 | c.*302_*303del (n.*302_*303del) c.*1146_*1147del (n.*1146_*1147del) c.9410_9411del (p.Asp3137GlyfsTer16) c.*1341_*1342del (n.*1341_*1342del) c.9728_9729del (p.Asp3243GlyfsTer16) c.2195_2196del (p.Asp732GlyfsTer16) n.1906_1907del c.9779_9780del (p.Asp3260GlyfsTer16) c.9787_9788del (n.9787_9788del) n.367_368del c.9683_9684del (p.Asp3228GlyfsTer16) | ClinVar dbSNP |
| 13 | g.32398293T>A | CA247509036 | BRCA2 | c.*303T>A (n.*303T>A) c.*1147T>A (n.*1147T>A) c.9411T>A (p.Asp3137Glu) c.*1342T>A (n.*1342T>A) c.9729T>A (p.Asp3243Glu) c.2196T>A (p.Asp732Glu) n.1907T>A c.9780T>A (p.Asp3260Glu) c.9788T>A (n.9788T>A) n.368T>A c.9684T>A (p.Asp3228Glu) | dbSNP |
| 13 | g.32398293T>C | CA483440060 | BRCA2 | c.*303T>C (n.*303T>C) c.*1147T>C (n.*1147T>C) c.9411T>C (p.Asp3137=) c.*1342T>C (n.*1342T>C) c.9729T>C (p.Asp3243=) c.2196T>C (p.Asp732=) n.1907T>C c.9780T>C (p.Asp3260=) c.9788T>C (n.9788T>C) n.368T>C c.9684T>C (p.Asp3228=) | dbSNP |
| 13 | g.32398293T>G | CA387765902 | BRCA2 | c.*303T>G (n.*303T>G) c.*1147T>G (n.*1147T>G) c.9411T>G (p.Asp3137Glu) c.*1342T>G (n.*1342T>G) c.9729T>G (p.Asp3243Glu) c.2196T>G (p.Asp732Glu) n.1907T>G c.9780T>G (p.Asp3260Glu) c.9788T>G (n.9788T>G) n.368T>G c.9684T>G (p.Asp3228Glu) | ClinVar dbSNP |
| 13 | g.32398293T= | CA2082835098 | BRCA2 | c.*303T= (n.*303T=) c.*1147T= (n.*1147T=) c.9411T= (p.Asp3137=) c.*1342T= (n.*1342T=) c.9729T= (p.Asp3243=) c.2196T= (p.Asp732=) n.1907T= c.9780T= (p.Asp3260=) c.9788T= (n.9788T=) n.368T= c.9684T= (p.Asp3228=) | |
| 13 | g.32398294G>A | CA387765906 | BRCA2 | c.*304G>A (n.*304G>A) c.*1148G>A (n.*1148G>A) c.9412G>A (p.Asp3138Asn) c.*1343G>A (n.*1343G>A) c.9730G>A (p.Asp3244Asn) c.2197G>A (p.Asp733Asn) n.1908G>A c.9781G>A (p.Asp3261Asn) c.9789G>A (n.9789G>A) n.369G>A c.9685G>A (p.Asp3229Asn) | ClinVar dbSNP |
| 13 | g.32398294G>C | CA387765909 | BRCA2 | c.*304G>C (n.*304G>C) c.*1148G>C (n.*1148G>C) c.9412G>C (p.Asp3138His) c.*1343G>C (n.*1343G>C) c.9730G>C (p.Asp3244His) c.2197G>C (p.Asp733His) n.1908G>C c.9781G>C (p.Asp3261His) c.9789G>C (n.9789G>C) n.369G>C c.9685G>C (p.Asp3229His) | dbSNP |
| 13 | g.32398294G= | CA2082835101 | BRCA2 | c.*304G= (n.*304G=) c.*1148G= (n.*1148G=) c.9412G= (p.Asp3138=) c.*1343G= (n.*1343G=) c.9730G= (p.Asp3244=) c.2197G= (p.Asp733=) n.1908G= c.9781G= (p.Asp3261=) c.9789G= (n.9789G=) n.369G= c.9685G= (p.Asp3229=) | |
| 13 | g.32398294G>T | CA387765912 | BRCA2 | c.*304G>T (n.*304G>T) c.*1148G>T (n.*1148G>T) c.9412G>T (p.Asp3138Tyr) c.*1343G>T (n.*1343G>T) c.9730G>T (p.Asp3244Tyr) c.2197G>T (p.Asp733Tyr) n.1908G>T c.9781G>T (p.Asp3261Tyr) c.9789G>T (n.9789G>T) n.369G>T c.9685G>T (p.Asp3229Tyr) | ClinVar gnomAD v4 |
| 13 | g.32398295A>C | CA387765915 | BRCA2 | c.*305A>C (n.*305A>C) c.*1149A>C (n.*1149A>C) c.9413A>C (p.Asp3138Ala) c.*1344A>C (n.*1344A>C) c.9731A>C (p.Asp3244Ala) c.2198A>C (p.Asp733Ala) n.1909A>C c.9782A>C (p.Asp3261Ala) c.9790A>C (n.9790A>C) n.370A>C c.9686A>C (p.Asp3229Ala) | |
| 13 | g.32398295A>G | CA387765922 | BRCA2 | c.*305A>G (n.*305A>G) c.*1149A>G (n.*1149A>G) c.9413A>G (p.Asp3138Gly) c.*1344A>G (n.*1344A>G) c.9731A>G (p.Asp3244Gly) c.2198A>G (p.Asp733Gly) n.1909A>G c.9782A>G (p.Asp3261Gly) c.9790A>G (n.9790A>G) n.370A>G c.9686A>G (p.Asp3229Gly) | |
| 13 | g.32398295A>T | CA387765919 | BRCA2 | c.*305A>T (n.*305A>T) c.*1149A>T (n.*1149A>T) c.9413A>T (p.Asp3138Val) c.*1344A>T (n.*1344A>T) c.9731A>T (p.Asp3244Val) c.2198A>T (p.Asp733Val) n.1909A>T c.9782A>T (p.Asp3261Val) c.9790A>T (n.9790A>T) n.370A>T c.9686A>T (p.Asp3229Val) | |
| 13 | g.32398296C>A | CA387765925 | BRCA2 | c.*306C>A (n.*306C>A) c.*1150C>A (n.*1150C>A) c.9414C>A (p.Asp3138Glu) c.*1345C>A (n.*1345C>A) c.9732C>A (p.Asp3244Glu) c.2199C>A (p.Asp733Glu) n.1910C>A c.9783C>A (p.Asp3261Glu) c.9791C>A (n.9791C>A) n.371C>A c.9687C>A (p.Asp3229Glu) | dbSNP |
| 13 | g.32398296C= | CA2082835109 | BRCA2 | c.*306C= (n.*306C=) c.*1150C= (n.*1150C=) c.9414C= (p.Asp3138=) c.*1345C= (n.*1345C=) c.9732C= (p.Asp3244=) c.2199C= (p.Asp733=) n.1910C= c.9783C= (p.Asp3261=) c.9791C= (n.9791C=) n.371C= c.9687C= (p.Asp3229=) | |
| 13 | g.32398296C>G | CA387765929 | BRCA2 | c.*306C>G (n.*306C>G) c.*1150C>G (n.*1150C>G) c.9414C>G (p.Asp3138Glu) c.*1345C>G (n.*1345C>G) c.9732C>G (p.Asp3244Glu) c.2199C>G (p.Asp733Glu) n.1910C>G c.9783C>G (p.Asp3261Glu) c.9791C>G (n.9791C>G) n.371C>G c.9687C>G (p.Asp3229Glu) | ClinVar dbSNP |
| 13 | g.32398296C>T | CA10579845 | BRCA2 | c.*306C>T (n.*306C>T) c.*1150C>T (n.*1150C>T) c.9414C>T (p.Asp3138=) c.*1345C>T (n.*1345C>T) c.9732C>T (p.Asp3244=) c.2199C>T (p.Asp733=) n.1910C>T c.9783C>T (p.Asp3261=) c.9791C>T (n.9791C>T) n.371C>T c.9687C>T (p.Asp3229=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398297C>A | CA387765936 | BRCA2 | c.*307C>A (n.*307C>A) c.*1151C>A (n.*1151C>A) c.9415C>A (p.Gln3139Lys) c.*1346C>A (n.*1346C>A) c.9733C>A (p.Gln3245Lys) c.2200C>A (p.Gln734Lys) n.1911C>A c.9784C>A (p.Gln3262Lys) c.9792C>A (n.9792C>A) n.372C>A c.9688C>A (p.Gln3230Lys) | dbSNP |
| 13 | g.32398297C= | CA2082835128 | BRCA2 | c.*307C= (n.*307C=) c.*1151C= (n.*1151C=) c.9415C= (p.Gln3139=) c.*1346C= (n.*1346C=) c.9733C= (p.Gln3245=) c.2200C= (p.Gln734=) n.1911C= c.9784C= (p.Gln3262=) c.9792C= (n.9792C=) n.372C= c.9688C= (p.Gln3230=) | |
| 13 | g.32398297C>G | CA387765940 | BRCA2 | c.*307C>G (n.*307C>G) c.*1151C>G (n.*1151C>G) c.9415C>G (p.Gln3139Glu) c.*1346C>G (n.*1346C>G) c.9733C>G (p.Gln3245Glu) c.2200C>G (p.Gln734Glu) n.1911C>G c.9784C>G (p.Gln3262Glu) c.9792C>G (n.9792C>G) n.372C>G c.9688C>G (p.Gln3230Glu) | ClinVar dbSNP |
| 13 | g.32398297C>T | CA387765945 | BRCA2 | c.*307C>T (n.*307C>T) c.*1151C>T (n.*1151C>T) c.9415C>T (p.Gln3139Ter) c.*1346C>T (n.*1346C>T) c.9733C>T (p.Gln3245Ter) c.2200C>T (p.Gln734Ter) n.1911C>T c.9784C>T (p.Gln3262Ter) c.9792C>T (n.9792C>T) n.372C>T c.9688C>T (p.Gln3230Ter) | ClinVar dbSNP |
| 13 | g.32398297_32398298delinsCA | CA2082835136 | BRCA2 | c.*307_*308delinsCA (n.*307_*308delinsCA) c.*1151_*1152delinsCA (n.*1151_*1152delinsCA) c.9415_9416delinsCA (p.Gln3139=) c.*1346_*1347delinsCA (n.*1346_*1347delinsCA) c.9733_9734delinsCA (p.Gln3245=) c.2200_2201delinsCA (p.Gln734=) n.1911_1912delinsCA c.9784_9785delinsCA (p.Gln3262=) c.9792_9793delinsCA (n.9792_9793delinsCA) n.372_373delinsCA c.9688_9689delinsCA (p.Gln3230=) | |
| 13 | g.32398298A= | CA2082835145 | BRCA2 | c.*308A= (n.*308A=) c.*1152A= (n.*1152A=) c.9416A= (p.Gln3139=) c.*1347A= (n.*1347A=) c.9734A= (p.Gln3245=) c.2201A= (p.Gln734=) n.1912A= c.9785A= (p.Gln3262=) c.9793A= (n.9793A=) n.373A= c.9689A= (p.Gln3230=) | |
| 13 | g.32398298A>C | CA387765948 | BRCA2 | c.*308A>C (n.*308A>C) c.*1152A>C (n.*1152A>C) c.9416A>C (p.Gln3139Pro) c.*1347A>C (n.*1347A>C) c.9734A>C (p.Gln3245Pro) c.2201A>C (p.Gln734Pro) n.1912A>C c.9785A>C (p.Gln3262Pro) c.9793A>C (n.9793A>C) n.373A>C c.9689A>C (p.Gln3230Pro) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32398298A>G | CA387765950 | BRCA2 | c.*308A>G (n.*308A>G) c.*1152A>G (n.*1152A>G) c.9416A>G (p.Gln3139Arg) c.*1347A>G (n.*1347A>G) c.9734A>G (p.Gln3245Arg) c.2201A>G (p.Gln734Arg) n.1912A>G c.9785A>G (p.Gln3262Arg) c.9793A>G (n.9793A>G) n.373A>G c.9689A>G (p.Gln3230Arg) | ClinVar dbSNP |
| 13 | g.32398298A>T | CA387765954 | BRCA2 | c.*308A>T (n.*308A>T) c.*1152A>T (n.*1152A>T) c.9416A>T (p.Gln3139Leu) c.*1347A>T (n.*1347A>T) c.9734A>T (p.Gln3245Leu) c.2201A>T (p.Gln734Leu) n.1912A>T c.9785A>T (p.Gln3262Leu) c.9793A>T (n.9793A>T) n.373A>T c.9689A>T (p.Gln3230Leu) | dbSNP |
| 13 | g.32398301del | CA919242998 | BRCA2 | c.*311del (n.*311del) c.*1155del (n.*1155del) c.9419del (p.Lys3140ArgfsTer12) c.*1350del (n.*1350del) c.9737del (p.Lys3246ArgfsTer12) c.2204del (p.Lys735ArgfsTer12) n.1915del c.9788del (p.Lys3263ArgfsTer12) c.9796del (n.9796del) n.376del c.9692del (p.Lys3231ArgfsTer12) | dbSNP |
| 13 | g.32398299A= | CA2082835152 | BRCA2 | c.*309A= (n.*309A=) c.*1153A= (n.*1153A=) c.9417A= (p.Gln3139=) c.*1348A= (n.*1348A=) c.9735A= (p.Gln3245=) c.2202A= (p.Gln734=) n.1913A= c.9786A= (p.Gln3262=) c.9794A= (n.9794A=) n.374A= c.9690A= (p.Gln3230=) | |
| 13 | g.32398299A>C | CA387765957 | BRCA2 | c.*309A>C (n.*309A>C) c.*1153A>C (n.*1153A>C) c.9417A>C (p.Gln3139His) c.*1348A>C (n.*1348A>C) c.9735A>C (p.Gln3245His) c.2202A>C (p.Gln734His) n.1913A>C c.9786A>C (p.Gln3262His) c.9794A>C (n.9794A>C) n.374A>C c.9690A>C (p.Gln3230His) | |
| 13 | g.32398299A>G | CA483440066 | BRCA2 | c.*309A>G (n.*309A>G) c.*1153A>G (n.*1153A>G) c.9417A>G (p.Gln3139=) c.*1348A>G (n.*1348A>G) c.9735A>G (p.Gln3245=) c.2202A>G (p.Gln734=) n.1913A>G c.9786A>G (p.Gln3262=) c.9794A>G (n.9794A>G) n.374A>G c.9690A>G (p.Gln3230=) | ClinVar dbSNP gnomAD v4 |