WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.32398167T>A | CA483439899 | BRCA2 | c.*177T>A (n.*177T>A) c.*1021T>A (n.*1021T>A) c.9285T>A (p.Ser3095=) c.*1216T>A (n.*1216T>A) c.9603T>A (p.Ser3201=) c.2070T>A (p.Ser690=) n.1781T>A c.9654T>A (p.Ser3218=) c.9662T>A (n.9662T>A) c.2532T>A c.737T>A n.242T>A c.9558T>A (p.Ser3186=) | |
| 13 | g.32398167T>C | CA483439900 | BRCA2 | c.*177T>C (n.*177T>C) c.*1021T>C (n.*1021T>C) c.9285T>C (p.Ser3095=) c.*1216T>C (n.*1216T>C) c.9603T>C (p.Ser3201=) c.2070T>C (p.Ser690=) n.1781T>C c.9654T>C (p.Ser3218=) c.9662T>C (n.9662T>C) c.2532T>C c.737T>C n.242T>C c.9558T>C (p.Ser3186=) | dbSNP |
| 13 | g.32398167T>G | CA483439901 | BRCA2 | c.*177T>G (n.*177T>G) c.*1021T>G (n.*1021T>G) c.9285T>G (p.Ser3095=) c.*1216T>G (n.*1216T>G) c.9603T>G (p.Ser3201=) c.2070T>G (p.Ser690=) n.1781T>G c.9654T>G (p.Ser3218=) c.9662T>G (n.9662T>G) c.2532T>G c.737T>G n.242T>G c.9558T>G (p.Ser3186=) | |
| 13 | g.32398168T>A | CA387765087 | BRCA2 | c.*178T>A (n.*178T>A) c.*1022T>A (n.*1022T>A) c.9286T>A (p.Ser3096Thr) c.*1217T>A (n.*1217T>A) c.9604T>A (p.Ser3202Thr) c.2071T>A (p.Ser691Thr) n.1782T>A c.9655T>A (p.Ser3219Thr) c.9663T>A (n.9663T>A) c.2533T>A c.738T>A n.243T>A c.9559T>A (p.Ser3187Thr) | |
| 13 | g.32398168T>C | CA387765088 | BRCA2 | c.*178T>C (n.*178T>C) c.*1022T>C (n.*1022T>C) c.9286T>C (p.Ser3096Pro) c.*1217T>C (n.*1217T>C) c.9604T>C (p.Ser3202Pro) c.2071T>C (p.Ser691Pro) n.1782T>C c.9655T>C (p.Ser3219Pro) c.9663T>C (n.9663T>C) c.2533T>C c.738T>C n.243T>C c.9559T>C (p.Ser3187Pro) | dbSNP |
| 13 | g.32398168T>G | CA387765089 | BRCA2 | c.*178T>G (n.*178T>G) c.*1022T>G (n.*1022T>G) c.9286T>G (p.Ser3096Ala) c.*1217T>G (n.*1217T>G) c.9604T>G (p.Ser3202Ala) c.2071T>G (p.Ser691Ala) n.1782T>G c.9655T>G (p.Ser3219Ala) c.9663T>G (n.9663T>G) c.2533T>G c.738T>G n.243T>G c.9559T>G (p.Ser3187Ala) | |
| 13 | g.32398168_32398171delinsTCTC | CA2082833877 | BRCA2 | c.*178_*181delinsTCTC (n.*178_*181delinsTCTC) c.*1022_*1025delinsTCTC (n.*1022_*1025delinsTCTC) c.9286_9289delinsTCTC (p.Ser3096=) c.*1217_*1220delinsTCTC (n.*1217_*1220delinsTCTC) c.9604_9607delinsTCTC (p.Ser3202=) c.2071_2074delinsTCTC (p.Ser691=) n.1782_1785delinsTCTC c.9655_9658delinsTCTC (p.Ser3219=) c.9663_9666delinsTCTC (n.9663_9666delinsTCTC) c.2533_2536delinsTCTC c.738_741delinsTCTC n.243_246delinsTCTC c.9559_9562delinsTCTC (p.Ser3187=) | |
| 13 | g.32398169C>A | CA387765092 | BRCA2 | c.*179C>A (n.*179C>A) c.*1023C>A (n.*1023C>A) c.9287C>A (p.Ser3096Tyr) c.*1218C>A (n.*1218C>A) c.9605C>A (p.Ser3202Tyr) c.2072C>A (p.Ser691Tyr) n.1783C>A c.9656C>A (p.Ser3219Tyr) c.9664C>A (n.9664C>A) c.2534C>A c.739C>A n.244C>A c.9560C>A (p.Ser3187Tyr) | dbSNP gnomAD v4 |
| 13 | g.32398169C= | CA2082833886 | BRCA2 | c.*179C= (n.*179C=) c.*1023C= (n.*1023C=) c.9287C= (p.Ser3096=) c.*1218C= (n.*1218C=) c.9605C= (p.Ser3202=) c.2072C= (p.Ser691=) n.1783C= c.9656C= (p.Ser3219=) c.9664C= (n.9664C=) c.2534C= c.739C= n.244C= c.9560C= (p.Ser3187=) | |
| 13 | g.32398169C>G | CA387765093 | BRCA2 | c.*179C>G (n.*179C>G) c.*1023C>G (n.*1023C>G) c.9287C>G (p.Ser3096Cys) c.*1218C>G (n.*1218C>G) c.9605C>G (p.Ser3202Cys) c.2072C>G (p.Ser691Cys) n.1783C>G c.9656C>G (p.Ser3219Cys) c.9664C>G (n.9664C>G) c.2534C>G c.739C>G n.244C>G c.9560C>G (p.Ser3187Cys) | dbSNP |
| 13 | g.32398169C>T | CA387765096 | BRCA2 | c.*179C>T (n.*179C>T) c.*1023C>T (n.*1023C>T) c.9287C>T (p.Ser3096Phe) c.*1218C>T (n.*1218C>T) c.9605C>T (p.Ser3202Phe) c.2072C>T (p.Ser691Phe) n.1783C>T c.9656C>T (p.Ser3219Phe) c.9664C>T (n.9664C>T) c.2534C>T c.739C>T n.244C>T c.9560C>T (p.Ser3187Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32398171_32398173del | CA1139663202 | BRCA2 | c.*181_*183del (n.*181_*183del) c.*1025_*1027del (n.*1025_*1027del) c.9289_9291del (p.Pro3097del) c.*1220_*1222del (n.*1220_*1222del) c.9607_9609del (p.Pro3203del) c.2074_2076del (p.Pro692del) n.1785_1787del c.9658_9660del (p.Pro3220del) c.9666_9668del (n.9666_9668del) c.2536_2538del c.741_743del n.246_248del c.9562_9564del (p.Pro3188del) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398170T>A | CA483439902 | BRCA2 | c.*180T>A (n.*180T>A) c.*1024T>A (n.*1024T>A) c.9288T>A (p.Ser3096=) c.*1219T>A (n.*1219T>A) c.9606T>A (p.Ser3202=) c.2073T>A (p.Ser691=) n.1784T>A c.9657T>A (p.Ser3219=) c.9665T>A (n.9665T>A) c.2535T>A c.740T>A n.245T>A c.9561T>A (p.Ser3187=) | dbSNP |
| 13 | g.32398170T>C | CA483439903 | BRCA2 | c.*180T>C (n.*180T>C) c.*1024T>C (n.*1024T>C) c.9288T>C (p.Ser3096=) c.*1219T>C (n.*1219T>C) c.9606T>C (p.Ser3202=) c.2073T>C (p.Ser691=) n.1784T>C c.9657T>C (p.Ser3219=) c.9665T>C (n.9665T>C) c.2535T>C c.740T>C n.245T>C c.9561T>C (p.Ser3187=) | ClinVar dbSNP |
| 13 | g.32398170T>G | CA483439904 | BRCA2 | c.*180T>G (n.*180T>G) c.*1024T>G (n.*1024T>G) c.9288T>G (p.Ser3096=) c.*1219T>G (n.*1219T>G) c.9606T>G (p.Ser3202=) c.2073T>G (p.Ser691=) n.1784T>G c.9657T>G (p.Ser3219=) c.9665T>G (n.9665T>G) c.2535T>G c.740T>G n.245T>G c.9561T>G (p.Ser3187=) | ClinVar |
| 13 | g.32398170T= | CA2082833901 | BRCA2 | c.*180T= (n.*180T=) c.*1024T= (n.*1024T=) c.9288T= (p.Ser3096=) c.*1219T= (n.*1219T=) c.9606T= (p.Ser3202=) c.2073T= (p.Ser691=) n.1784T= c.9657T= (p.Ser3219=) c.9665T= (n.9665T=) c.2535T= c.740T= n.245T= c.9561T= (p.Ser3187=) | |
| 13 | g.32398171C>A | CA387765104 | BRCA2 | c.*181C>A (n.*181C>A) c.*1025C>A (n.*1025C>A) c.9289C>A (p.Pro3097Thr) c.*1220C>A (n.*1220C>A) c.9607C>A (p.Pro3203Thr) c.2074C>A (p.Pro692Thr) n.1785C>A c.9658C>A (p.Pro3220Thr) c.9666C>A (n.9666C>A) c.2536C>A c.741C>A n.246C>A c.9562C>A (p.Pro3188Thr) | dbSNP |
| 13 | g.32398171C= | CA2082833915 | BRCA2 | c.*181C= (n.*181C=) c.*1025C= (n.*1025C=) c.9289C= (p.Pro3097=) c.*1220C= (n.*1220C=) c.9607C= (p.Pro3203=) c.2074C= (p.Pro692=) n.1785C= c.9658C= (p.Pro3220=) c.9666C= (n.9666C=) c.2536C= c.741C= n.246C= c.9562C= (p.Pro3188=) | |
| 13 | g.32398171C>G | CA387765100 | BRCA2 | c.*181C>G (n.*181C>G) c.*1025C>G (n.*1025C>G) c.9289C>G (p.Pro3097Ala) c.*1220C>G (n.*1220C>G) c.9607C>G (p.Pro3203Ala) c.2074C>G (p.Pro692Ala) n.1785C>G c.9658C>G (p.Pro3220Ala) c.9666C>G (n.9666C>G) c.2536C>G c.741C>G n.246C>G c.9562C>G (p.Pro3188Ala) | dbSNP |
| 13 | g.32398171C>T | CA026260 | BRCA2 | c.*181C>T (n.*181C>T) c.*1025C>T (n.*1025C>T) c.9289C>T (p.Pro3097Ser) c.*1220C>T (n.*1220C>T) c.9607C>T (p.Pro3203Ser) c.2074C>T (p.Pro692Ser) n.1785C>T c.9658C>T (p.Pro3220Ser) c.9666C>T (n.9666C>T) c.2536C>T c.741C>T n.246C>T c.9562C>T (p.Pro3188Ser) | ClinVar dbSNP |
| 13 | g.32398172C>A | CA387765107 | BRCA2 | c.*182C>A (n.*182C>A) c.*1026C>A (n.*1026C>A) c.9290C>A (p.Pro3097His) c.*1221C>A (n.*1221C>A) c.9608C>A (p.Pro3203His) c.2075C>A (p.Pro692His) n.1786C>A c.9659C>A (p.Pro3220His) c.9667C>A (n.9667C>A) c.2537C>A c.742C>A n.247C>A c.9563C>A (p.Pro3188His) | |
| 13 | g.32398172C>G | CA387765109 | BRCA2 | c.*182C>G (n.*182C>G) c.*1026C>G (n.*1026C>G) c.9290C>G (p.Pro3097Arg) c.*1221C>G (n.*1221C>G) c.9608C>G (p.Pro3203Arg) c.2075C>G (p.Pro692Arg) n.1786C>G c.9659C>G (p.Pro3220Arg) c.9667C>G (n.9667C>G) c.2537C>G c.742C>G n.247C>G c.9563C>G (p.Pro3188Arg) | |
| 13 | g.32398172C>T | CA387765112 | BRCA2 | c.*182C>T (n.*182C>T) c.*1026C>T (n.*1026C>T) c.9290C>T (p.Pro3097Leu) c.*1221C>T (n.*1221C>T) c.9608C>T (p.Pro3203Leu) c.2075C>T (p.Pro692Leu) n.1786C>T c.9659C>T (p.Pro3220Leu) c.9667C>T (n.9667C>T) c.2537C>T c.742C>T n.247C>T c.9563C>T (p.Pro3188Leu) | |
| 13 | g.32398173T>A | CA483439905 | BRCA2 | c.*183T>A (n.*183T>A) c.*1027T>A (n.*1027T>A) c.9291T>A (p.Pro3097=) c.*1222T>A (n.*1222T>A) c.9609T>A (p.Pro3203=) c.2076T>A (p.Pro692=) n.1787T>A c.9660T>A (p.Pro3220=) c.9668T>A (n.9668T>A) c.2538T>A c.743T>A n.248T>A c.9564T>A (p.Pro3188=) | |
| 13 | g.32398173T>C | CA483439906 | BRCA2 | c.*183T>C (n.*183T>C) c.*1027T>C (n.*1027T>C) c.9291T>C (p.Pro3097=) c.*1222T>C (n.*1222T>C) c.9609T>C (p.Pro3203=) c.2076T>C (p.Pro692=) n.1787T>C c.9660T>C (p.Pro3220=) c.9668T>C (n.9668T>C) c.2538T>C c.743T>C n.248T>C c.9564T>C (p.Pro3188=) | |
| 13 | g.32398173T>G | CA483439907 | BRCA2 | c.*183T>G (n.*183T>G) c.*1027T>G (n.*1027T>G) c.9291T>G (p.Pro3097=) c.*1222T>G (n.*1222T>G) c.9609T>G (p.Pro3203=) c.2076T>G (p.Pro692=) n.1787T>G c.9660T>G (p.Pro3220=) c.9668T>G (n.9668T>G) c.2538T>G c.743T>G n.248T>G c.9564T>G (p.Pro3188=) | |
| 13 | g.32398174A>C | CA387765114 | BRCA2 | c.*184A>C (n.*184A>C) c.*1028A>C (n.*1028A>C) c.9292A>C (p.Asn3098His) c.*1223A>C (n.*1223A>C) c.9610A>C (p.Asn3204His) c.2077A>C (p.Asn693His) n.1788A>C c.9661A>C (p.Asn3221His) c.9669A>C (n.9669A>C) c.2539A>C c.744A>C n.249A>C c.9565A>C (p.Asn3189His) | ClinVar |
| 13 | g.32398174A>G | CA387765116 | BRCA2 | c.*184A>G (n.*184A>G) c.*1028A>G (n.*1028A>G) c.9292A>G (p.Asn3098Asp) c.*1223A>G (n.*1223A>G) c.9610A>G (p.Asn3204Asp) c.2077A>G (p.Asn693Asp) n.1788A>G c.9661A>G (p.Asn3221Asp) c.9669A>G (n.9669A>G) c.2539A>G c.744A>G n.249A>G c.9565A>G (p.Asn3189Asp) | |
| 13 | g.32398174A>T | CA387765119 | BRCA2 | c.*184A>T (n.*184A>T) c.*1028A>T (n.*1028A>T) c.9292A>T (p.Asn3098Tyr) c.*1223A>T (n.*1223A>T) c.9610A>T (p.Asn3204Tyr) c.2077A>T (p.Asn693Tyr) n.1788A>T c.9661A>T (p.Asn3221Tyr) c.9669A>T (n.9669A>T) c.2539A>T c.744A>T n.249A>T c.9565A>T (p.Asn3189Tyr) | dbSNP |
| 13 | g.32398175A= | CA2082833935 | BRCA2 | c.*185A= (n.*185A=) c.*1029A= (n.*1029A=) c.9293A= (p.Asn3098=) c.*1224A= (n.*1224A=) c.9611A= (p.Asn3204=) c.2078A= (p.Asn693=) n.1789A= c.9662A= (p.Asn3221=) c.9670A= (n.9670A=) c.2540A= c.745A= n.250A= c.9566A= (p.Asn3189=) | |
| 13 | g.32398175A>C | CA387765122 | BRCA2 | c.*185A>C (n.*185A>C) c.*1029A>C (n.*1029A>C) c.9293A>C (p.Asn3098Thr) c.*1224A>C (n.*1224A>C) c.9611A>C (p.Asn3204Thr) c.2078A>C (p.Asn693Thr) n.1789A>C c.9662A>C (p.Asn3221Thr) c.9670A>C (n.9670A>C) c.2540A>C c.745A>C n.250A>C c.9566A>C (p.Asn3189Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32398175A>G | CA387765124 | BRCA2 | c.*185A>G (n.*185A>G) c.*1029A>G (n.*1029A>G) c.9293A>G (p.Asn3098Ser) c.*1224A>G (n.*1224A>G) c.9611A>G (p.Asn3204Ser) c.2078A>G (p.Asn693Ser) n.1789A>G c.9662A>G (p.Asn3221Ser) c.9670A>G (n.9670A>G) c.2540A>G c.745A>G n.250A>G c.9566A>G (p.Asn3189Ser) | |
| 13 | g.32398175A>T | CA387765126 | BRCA2 | c.*185A>T (n.*185A>T) c.*1029A>T (n.*1029A>T) c.9293A>T (p.Asn3098Ile) c.*1224A>T (n.*1224A>T) c.9611A>T (p.Asn3204Ile) c.2078A>T (p.Asn693Ile) n.1789A>T c.9662A>T (p.Asn3221Ile) c.9670A>T (n.9670A>T) c.2540A>T c.745A>T n.250A>T c.9566A>T (p.Asn3189Ile) | dbSNP |
| 13 | g.32398176T>A | CA387765128 | BRCA2 | c.*186T>A (n.*186T>A) c.*1030T>A (n.*1030T>A) c.9294T>A (p.Asn3098Lys) c.*1225T>A (n.*1225T>A) c.9612T>A (p.Asn3204Lys) c.2079T>A (p.Asn693Lys) n.1790T>A c.9663T>A (p.Asn3221Lys) c.9671T>A (n.9671T>A) c.2541T>A c.746T>A n.251T>A c.9567T>A (p.Asn3189Lys) | dbSNP |
| 13 | g.32398176T>C | CA483439908 | BRCA2 | c.*186T>C (n.*186T>C) c.*1030T>C (n.*1030T>C) c.9294T>C (p.Asn3098=) c.*1225T>C (n.*1225T>C) c.9612T>C (p.Asn3204=) c.2079T>C (p.Asn693=) n.1790T>C c.9663T>C (p.Asn3221=) c.9671T>C (n.9671T>C) c.2541T>C c.746T>C n.251T>C c.9567T>C (p.Asn3189=) | gnomAD v4 |
| 13 | g.32398176T>G | CA387765130 | BRCA2 | c.*186T>G (n.*186T>G) c.*1030T>G (n.*1030T>G) c.9294T>G (p.Asn3098Lys) c.*1225T>G (n.*1225T>G) c.9612T>G (p.Asn3204Lys) c.2079T>G (p.Asn693Lys) n.1790T>G c.9663T>G (p.Asn3221Lys) c.9671T>G (n.9671T>G) c.2541T>G c.746T>G n.251T>G c.9567T>G (p.Asn3189Lys) | dbSNP |
| 13 | g.32398177T>A | CA387765136 | BRCA2 | c.*187T>A (n.*187T>A) c.*1031T>A (n.*1031T>A) c.9295T>A (p.Cys3099Ser) c.*1226T>A (n.*1226T>A) c.9613T>A (p.Cys3205Ser) c.2080T>A (p.Cys694Ser) n.1791T>A c.9664T>A (p.Cys3222Ser) c.9672T>A (n.9672T>A) c.2542T>A c.747T>A n.252T>A c.9568T>A (p.Cys3190Ser) | dbSNP |
| 13 | g.32398177T>C | CA387765134 | BRCA2 | c.*187T>C (n.*187T>C) c.*1031T>C (n.*1031T>C) c.9295T>C (p.Cys3099Arg) c.*1226T>C (n.*1226T>C) c.9613T>C (p.Cys3205Arg) c.2080T>C (p.Cys694Arg) n.1791T>C c.9664T>C (p.Cys3222Arg) c.9672T>C (n.9672T>C) c.2542T>C c.747T>C n.252T>C c.9568T>C (p.Cys3190Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32398177T>G | CA387765132 | BRCA2 | c.*187T>G (n.*187T>G) c.*1031T>G (n.*1031T>G) c.9295T>G (p.Cys3099Gly) c.*1226T>G (n.*1226T>G) c.9613T>G (p.Cys3205Gly) c.2080T>G (p.Cys694Gly) n.1791T>G c.9664T>G (p.Cys3222Gly) c.9672T>G (n.9672T>G) c.2542T>G c.747T>G n.252T>G c.9568T>G (p.Cys3190Gly) | ClinVar |
| 13 | g.32398177T= | CA2082833942 | BRCA2 | c.*187T= (n.*187T=) c.*1031T= (n.*1031T=) c.9295T= (p.Cys3099=) c.*1226T= (n.*1226T=) c.9613T= (p.Cys3205=) c.2080T= (p.Cys694=) n.1791T= c.9664T= (p.Cys3222=) c.9672T= (n.9672T=) c.2542T= c.747T= n.252T= c.9568T= (p.Cys3190=) | |
| 13 | g.32398178G>A | CA387765139 | BRCA2 | c.*188G>A (n.*188G>A) c.*1032G>A (n.*1032G>A) c.9296G>A (p.Cys3099Tyr) c.*1227G>A (n.*1227G>A) c.9614G>A (p.Cys3205Tyr) c.2081G>A (p.Cys694Tyr) n.1792G>A c.9665G>A (p.Cys3222Tyr) c.9673G>A (n.9673G>A) c.2543G>A c.748G>A n.253G>A c.9569G>A (p.Cys3190Tyr) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398178G>C | CA387765141 | BRCA2 | c.*188G>C (n.*188G>C) c.*1032G>C (n.*1032G>C) c.9296G>C (p.Cys3099Ser) c.*1227G>C (n.*1227G>C) c.9614G>C (p.Cys3205Ser) c.2081G>C (p.Cys694Ser) n.1792G>C c.9665G>C (p.Cys3222Ser) c.9673G>C (n.9673G>C) c.2543G>C c.748G>C n.253G>C c.9569G>C (p.Cys3190Ser) | dbSNP |
| 13 | g.32398178G= | CA2082833967 | BRCA2 | c.*188G= (n.*188G=) c.*1032G= (n.*1032G=) c.9296G= (p.Cys3099=) c.*1227G= (n.*1227G=) c.9614G= (p.Cys3205=) c.2081G= (p.Cys694=) n.1792G= c.9665G= (p.Cys3222=) c.9673G= (n.9673G=) c.2543G= c.748G= n.253G= c.9569G= (p.Cys3190=) | |
| 13 | g.32398178G>T | CA387765144 | BRCA2 | c.*188G>T (n.*188G>T) c.*1032G>T (n.*1032G>T) c.9296G>T (p.Cys3099Phe) c.*1227G>T (n.*1227G>T) c.9614G>T (p.Cys3205Phe) c.2081G>T (p.Cys694Phe) n.1792G>T c.9665G>T (p.Cys3222Phe) c.9673G>T (n.9673G>T) c.2543G>T c.748G>T n.253G>T c.9569G>T (p.Cys3190Phe) | ClinVar dbSNP |
| 13 | g.32398178_32398179delinsGT | CA2082833946 | BRCA2 | c.*188_*189delinsGT (n.*188_*189delinsGT) c.*1032_*1033delinsGT (n.*1032_*1033delinsGT) c.9296_9297delinsGT (p.Cys3099=) c.*1227_*1228delinsGT (n.*1227_*1228delinsGT) c.9614_9615delinsGT (p.Cys3205=) c.2081_2082delinsGT (p.Cys694=) n.1792_1793delinsGT c.9665_9666delinsGT (p.Cys3222=) c.9673_9674delinsGT (n.9673_9674delinsGT) c.2543_2544delinsGT c.748_749delinsGT n.253_254delinsGT c.9569_9570delinsGT (p.Cys3190=) | |
| 13 | g.32398179del | CA026261 | BRCA2 | c.*189del (n.*189del) c.*1033del (n.*1033del) c.9297del (p.Cys3099TrpfsTer27) c.*1228del (n.*1228del) c.9615del (p.Cys3205TrpfsTer27) c.2082del (p.Cys694TrpfsTer27) n.1793del c.9666del (p.Cys3222TrpfsTer27) c.9674del (n.9674del) c.2544del c.749del n.254del c.9570del (p.Cys3190TrpfsTer27) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32398179T>A | CA387765149 | BRCA2 | c.*189T>A (n.*189T>A) c.*1033T>A (n.*1033T>A) c.9297T>A (p.Cys3099Ter) c.*1228T>A (n.*1228T>A) c.9615T>A (p.Cys3205Ter) c.2082T>A (p.Cys694Ter) n.1793T>A c.9666T>A (p.Cys3222Ter) c.9674T>A (n.9674T>A) c.2544T>A c.749T>A n.254T>A c.9570T>A (p.Cys3190Ter) |