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.32398689del | CA010429 | BRCA2 | c.*699del (n.*699del) c.*1543del (n.*1543del) c.9807del (p.Glu3270AsnfsTer?) c.*1738del (n.*1738del) c.10125del (p.Glu3376AsnfsTer?) c.2592del (p.Glu865AsnfsTer?) n.2303del c.10176del (p.Glu3393AsnfsTer?) c.10184del (n.10184del) c.10080del (p.Glu3361AsnfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32398689A= | CA2082837957 | BRCA2 | c.*699A= (n.*699A=) c.*1543A= (n.*1543A=) c.9807A= (p.Lys3269=) c.*1738A= (n.*1738A=) c.10125A= (p.Lys3375=) c.2592A= (p.Lys864=) n.2303A= c.10176A= (p.Lys3392=) c.10184A= (n.10184A=) c.10080A= (p.Lys3360=) | |
| 13 | g.32398689A>C | CA387768274 | BRCA2 | c.*699A>C (n.*699A>C) c.*1543A>C (n.*1543A>C) c.9807A>C (p.Lys3269Asn) c.*1738A>C (n.*1738A>C) c.10125A>C (p.Lys3375Asn) c.2592A>C (p.Lys864Asn) n.2303A>C c.10176A>C (p.Lys3392Asn) c.10184A>C (n.10184A>C) c.10080A>C (p.Lys3360Asn) | dbSNP |
| 13 | g.32398689A>G | CA10579860 | BRCA2 | c.*699A>G (n.*699A>G) c.*1543A>G (n.*1543A>G) c.9807A>G (p.Lys3269=) c.*1738A>G (n.*1738A>G) c.10125A>G (p.Lys3375=) c.2592A>G (p.Lys864=) n.2303A>G c.10176A>G (p.Lys3392=) c.10184A>G (n.10184A>G) c.10080A>G (p.Lys3360=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32398689A>T | CA387768272 | BRCA2 | c.*699A>T (n.*699A>T) c.*1543A>T (n.*1543A>T) c.9807A>T (p.Lys3269Asn) c.*1738A>T (n.*1738A>T) c.10125A>T (p.Lys3375Asn) c.2592A>T (p.Lys864Asn) n.2303A>T c.10176A>T (p.Lys3392Asn) c.10184A>T (n.10184A>T) c.10080A>T (p.Lys3360Asn) | |
| 13 | g.32398690G>A | CA387768277 | BRCA2 | c.*700G>A (n.*700G>A) c.*1544G>A (n.*1544G>A) c.9808G>A (p.Glu3270Lys) c.*1739G>A (n.*1739G>A) c.10126G>A (p.Glu3376Lys) c.2593G>A (p.Glu865Lys) n.2304G>A c.10177G>A (p.Glu3393Lys) c.10185G>A (n.10185G>A) c.10081G>A (p.Glu3361Lys) | ClinVar dbSNP |
| 13 | g.32398690G>C | CA387768278 | BRCA2 | c.*700G>C (n.*700G>C) c.*1544G>C (n.*1544G>C) c.9808G>C (p.Glu3270Gln) c.*1739G>C (n.*1739G>C) c.10126G>C (p.Glu3376Gln) c.2593G>C (p.Glu865Gln) n.2304G>C c.10177G>C (p.Glu3393Gln) c.10185G>C (n.10185G>C) c.10081G>C (p.Glu3361Gln) | dbSNP |
| 13 | g.32398690G>T | CA387768280 | BRCA2 | c.*700G>T (n.*700G>T) c.*1544G>T (n.*1544G>T) c.9808G>T (p.Glu3270Ter) c.*1739G>T (n.*1739G>T) c.10126G>T (p.Glu3376Ter) c.2593G>T (p.Glu865Ter) n.2304G>T c.10177G>T (p.Glu3393Ter) c.10185G>T (n.10185G>T) c.10081G>T (p.Glu3361Ter) | ClinVar |
| 13 | g.32398691A>C | CA387768283 | BRCA2 | c.*701A>C (n.*701A>C) c.*1545A>C (n.*1545A>C) c.9809A>C (p.Glu3270Ala) c.*1740A>C (n.*1740A>C) c.10127A>C (p.Glu3376Ala) c.2594A>C (p.Glu865Ala) n.2305A>C c.10178A>C (p.Glu3393Ala) c.10186A>C (n.10186A>C) c.10082A>C (p.Glu3361Ala) | |
| 13 | g.32398691A>G | CA387768286 | BRCA2 | c.*701A>G (n.*701A>G) c.*1545A>G (n.*1545A>G) c.9809A>G (p.Glu3270Gly) c.*1740A>G (n.*1740A>G) c.10127A>G (p.Glu3376Gly) c.2594A>G (p.Glu865Gly) n.2305A>G c.10178A>G (p.Glu3393Gly) c.10186A>G (n.10186A>G) c.10082A>G (p.Glu3361Gly) | |
| 13 | g.32398691A>T | CA387768287 | BRCA2 | c.*701A>T (n.*701A>T) c.*1545A>T (n.*1545A>T) c.9809A>T (p.Glu3270Val) c.*1740A>T (n.*1740A>T) c.10127A>T (p.Glu3376Val) c.2594A>T (p.Glu865Val) n.2305A>T c.10178A>T (p.Glu3393Val) c.10186A>T (n.10186A>T) c.10082A>T (p.Glu3361Val) | dbSNP |
| 13 | g.32398692A= | CA2082837970 | BRCA2 | c.*702A= (n.*702A=) c.*1546A= (n.*1546A=) c.9810A= (p.Glu3270=) c.*1741A= (n.*1741A=) c.10128A= (p.Glu3376=) c.2595A= (p.Glu865=) n.2306A= c.10179A= (p.Glu3393=) c.10187A= (n.10187A=) c.10083A= (p.Glu3361=) | |
| 13 | g.32398692A>C | CA387768289 | BRCA2 | c.*702A>C (n.*702A>C) c.*1546A>C (n.*1546A>C) c.9810A>C (p.Glu3270Asp) c.*1741A>C (n.*1741A>C) c.10128A>C (p.Glu3376Asp) c.2595A>C (p.Glu865Asp) n.2306A>C c.10179A>C (p.Glu3393Asp) c.10187A>C (n.10187A>C) c.10083A>C (p.Glu3361Asp) | dbSNP |
| 13 | g.32398692A>G | CA16606839 | BRCA2 | c.*702A>G (n.*702A>G) c.*1546A>G (n.*1546A>G) c.9810A>G (p.Glu3270=) c.*1741A>G (n.*1741A>G) c.10128A>G (p.Glu3376=) c.2595A>G (p.Glu865=) n.2306A>G c.10179A>G (p.Glu3393=) c.10187A>G (n.10187A>G) c.10083A>G (p.Glu3361=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398692A>T | CA387768291 | BRCA2 | c.*702A>T (n.*702A>T) c.*1546A>T (n.*1546A>T) c.9810A>T (p.Glu3270Asp) c.*1741A>T (n.*1741A>T) c.10128A>T (p.Glu3376Asp) c.2595A>T (p.Glu865Asp) n.2306A>T c.10179A>T (p.Glu3393Asp) c.10187A>T (n.10187A>T) c.10083A>T (p.Glu3361Asp) | dbSNP |
| 13 | g.32398693C>A | CA387768295 | BRCA2 | c.*703C>A (n.*703C>A) c.*1547C>A (n.*1547C>A) c.9811C>A (p.Gln3271Lys) c.*1742C>A (n.*1742C>A) c.10129C>A (p.Gln3377Lys) c.2596C>A (p.Gln866Lys) n.2307C>A c.10180C>A (p.Gln3394Lys) c.10188C>A (n.10188C>A) c.10084C>A (p.Gln3362Lys) | dbSNP |
| 13 | g.32398693C>G | CA387768297 | BRCA2 | c.*703C>G (n.*703C>G) c.*1547C>G (n.*1547C>G) c.9811C>G (p.Gln3271Glu) c.*1742C>G (n.*1742C>G) c.10129C>G (p.Gln3377Glu) c.2596C>G (p.Gln866Glu) n.2307C>G c.10180C>G (p.Gln3394Glu) c.10188C>G (n.10188C>G) c.10084C>G (p.Gln3362Glu) | dbSNP |
| 13 | g.32398693C>T | CA387768294 | BRCA2 | c.*703C>T (n.*703C>T) c.*1547C>T (n.*1547C>T) c.9811C>T (p.Gln3271Ter) c.*1742C>T (n.*1742C>T) c.10129C>T (p.Gln3377Ter) c.2596C>T (p.Gln866Ter) n.2307C>T c.10180C>T (p.Gln3394Ter) c.10188C>T (n.10188C>T) c.10084C>T (p.Gln3362Ter) | |
| 13 | g.32398694A>C | CA387768300 | BRCA2 | c.*704A>C (n.*704A>C) c.*1548A>C (n.*1548A>C) c.9812A>C (p.Gln3271Pro) c.*1743A>C (n.*1743A>C) c.10130A>C (p.Gln3377Pro) c.2597A>C (p.Gln866Pro) n.2308A>C c.10181A>C (p.Gln3394Pro) c.10189A>C (n.10189A>C) c.10085A>C (p.Gln3362Pro) | |
| 13 | g.32398694A>G | CA387768302 | BRCA2 | c.*704A>G (n.*704A>G) c.*1548A>G (n.*1548A>G) c.9812A>G (p.Gln3271Arg) c.*1743A>G (n.*1743A>G) c.10130A>G (p.Gln3377Arg) c.2597A>G (p.Gln866Arg) n.2308A>G c.10181A>G (p.Gln3394Arg) c.10189A>G (n.10189A>G) c.10085A>G (p.Gln3362Arg) | ClinVar dbSNP |
| 13 | g.32398694A>T | CA387768305 | BRCA2 | c.*704A>T (n.*704A>T) c.*1548A>T (n.*1548A>T) c.9812A>T (p.Gln3271Leu) c.*1743A>T (n.*1743A>T) c.10130A>T (p.Gln3377Leu) c.2597A>T (p.Gln866Leu) n.2308A>T c.10181A>T (p.Gln3394Leu) c.10189A>T (n.10189A>T) c.10085A>T (p.Gln3362Leu) | dbSNP |
| 13 | g.32398694_32398695delinsAG | CA2082837979 | BRCA2 | c.*704_*705delinsAG (n.*704_*705delinsAG) c.*1548_*1549delinsAG (n.*1548_*1549delinsAG) c.9812_9813delinsAG (p.Gln3271=) c.*1743_*1744delinsAG (n.*1743_*1744delinsAG) c.10130_10131delinsAG (p.Gln3377=) c.2597_2598delinsAG (p.Gln866=) n.2308_2309delinsAG c.10181_10182delinsAG (p.Gln3394=) c.10189_10190delinsAG (n.10189_10190delinsAG) c.10085_10086delinsAG (p.Gln3362=) | |
| 13 | g.32398695G>A | CA483440006 | BRCA2 | c.*705G>A (n.*705G>A) c.*1549G>A (n.*1549G>A) c.9813G>A (p.Gln3271=) c.*1744G>A (n.*1744G>A) c.10131G>A (p.Gln3377=) c.2598G>A (p.Gln866=) n.2309G>A c.10182G>A (p.Gln3394=) c.10190G>A (n.10190G>A) c.10086G>A (p.Gln3362=) | ClinVar dbSNP |
| 13 | g.32398695G>C | CA387768307 | BRCA2 | c.*705G>C (n.*705G>C) c.*1549G>C (n.*1549G>C) c.9813G>C (p.Gln3271His) c.*1744G>C (n.*1744G>C) c.10131G>C (p.Gln3377His) c.2598G>C (p.Gln866His) n.2309G>C c.10182G>C (p.Gln3394His) c.10190G>C (n.10190G>C) c.10086G>C (p.Gln3362His) | dbSNP |
| 13 | g.32398695G= | CA2082837994 | BRCA2 | c.*705G= (n.*705G=) c.*1549G= (n.*1549G=) c.9813G= (p.Gln3271=) c.*1744G= (n.*1744G=) c.10131G= (p.Gln3377=) c.2598G= (p.Gln866=) n.2309G= c.10182G= (p.Gln3394=) c.10190G= (n.10190G=) c.10086G= (p.Gln3362=) | |
| 13 | g.32398695G>T | CA387768310 | BRCA2 | c.*705G>T (n.*705G>T) c.*1549G>T (n.*1549G>T) c.9813G>T (p.Gln3271His) c.*1744G>T (n.*1744G>T) c.10131G>T (p.Gln3377His) c.2598G>T (p.Gln866His) n.2309G>T c.10182G>T (p.Gln3394His) c.10190G>T (n.10190G>T) c.10086G>T (p.Gln3362His) | ClinVar dbSNP |
| 13 | g.32398696del | CA16619804 | BRCA2 | c.*706del (n.*706del) c.*1550del (n.*1550del) c.9814del (p.Glu3272ArgfsTer?) c.*1745del (n.*1745del) c.10132del (p.Glu3378ArgfsTer?) c.2599del (p.Glu867ArgfsTer?) n.2310del c.10183del (p.Glu3395ArgfsTer?) c.10191del (n.10191del) c.10087del (p.Glu3363ArgfsTer?) | ClinVar dbSNP |
| 13 | g.32398696G>A | CA387768313 | BRCA2 | c.*706G>A (n.*706G>A) c.*1550G>A (n.*1550G>A) c.9814G>A (p.Glu3272Lys) c.*1745G>A (n.*1745G>A) c.10132G>A (p.Glu3378Lys) c.2599G>A (p.Glu867Lys) n.2310G>A c.10183G>A (p.Glu3395Lys) c.10191G>A (n.10191G>A) c.10087G>A (p.Glu3363Lys) | dbSNP |
| 13 | g.32398696G>C | CA387768316 | BRCA2 | c.*706G>C (n.*706G>C) c.*1550G>C (n.*1550G>C) c.9814G>C (p.Glu3272Gln) c.*1745G>C (n.*1745G>C) c.10132G>C (p.Glu3378Gln) c.2599G>C (p.Glu867Gln) n.2310G>C c.10183G>C (p.Glu3395Gln) c.10191G>C (n.10191G>C) c.10087G>C (p.Glu3363Gln) | dbSNP |
| 13 | g.32398696G>T | CA387768318 | BRCA2 | c.*706G>T (n.*706G>T) c.*1550G>T (n.*1550G>T) c.9814G>T (p.Glu3272Ter) c.*1745G>T (n.*1745G>T) c.10132G>T (p.Glu3378Ter) c.2599G>T (p.Glu867Ter) n.2310G>T c.10183G>T (p.Glu3395Ter) c.10191G>T (n.10191G>T) c.10087G>T (p.Glu3363Ter) | |
| 13 | g.32398696_32398697delinsGA | CA2082838009 | BRCA2 | c.*706_*707delinsGA (n.*706_*707delinsGA) c.*1550_*1551delinsGA (n.*1550_*1551delinsGA) c.9814_9815delinsGA (p.Glu3272=) c.*1745_*1746delinsGA (n.*1745_*1746delinsGA) c.10132_10133delinsGA (p.Glu3378=) c.2599_2600delinsGA (p.Glu867=) n.2310_2311delinsGA c.10183_10184delinsGA (p.Glu3395=) c.10191_10192delinsGA (n.10191_10192delinsGA) c.10087_10088delinsGA (p.Glu3363=) | |
| 13 | g.32398697del | CA658798110 | BRCA2 | c.*707del (n.*707del) c.*1551del (n.*1551del) c.9815del (p.Glu3272GlyfsTer?) c.*1746del (n.*1746del) c.10133del (p.Glu3378GlyfsTer?) c.2600del (p.Glu867GlyfsTer?) n.2311del c.10184del (p.Glu3395GlyfsTer?) c.10192del (n.10192del) c.10088del (p.Glu3363GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398697A= | CA2082838020 | BRCA2 | c.*707A= (n.*707A=) c.*1551A= (n.*1551A=) c.9815A= (p.Glu3272=) c.*1746A= (n.*1746A=) c.10133A= (p.Glu3378=) c.2600A= (p.Glu867=) n.2311A= c.10184A= (p.Glu3395=) c.10192A= (n.10192A=) c.10088A= (p.Glu3363=) | |
| 13 | g.32398697A>C | CA387768321 | BRCA2 | c.*707A>C (n.*707A>C) c.*1551A>C (n.*1551A>C) c.9815A>C (p.Glu3272Ala) c.*1746A>C (n.*1746A>C) c.10133A>C (p.Glu3378Ala) c.2600A>C (p.Glu867Ala) n.2311A>C c.10184A>C (p.Glu3395Ala) c.10192A>C (n.10192A>C) c.10088A>C (p.Glu3363Ala) | ClinVar dbSNP |
| 13 | g.32398697A>G | CA387768322 | BRCA2 | c.*707A>G (n.*707A>G) c.*1551A>G (n.*1551A>G) c.9815A>G (p.Glu3272Gly) c.*1746A>G (n.*1746A>G) c.10133A>G (p.Glu3378Gly) c.2600A>G (p.Glu867Gly) n.2311A>G c.10184A>G (p.Glu3395Gly) c.10192A>G (n.10192A>G) c.10088A>G (p.Glu3363Gly) | |
| 13 | g.32398697A>T | CA387768323 | BRCA2 | c.*707A>T (n.*707A>T) c.*1551A>T (n.*1551A>T) c.9815A>T (p.Glu3272Val) c.*1746A>T (n.*1746A>T) c.10133A>T (p.Glu3378Val) c.2600A>T (p.Glu867Val) n.2311A>T c.10184A>T (p.Glu3395Val) c.10192A>T (n.10192A>T) c.10088A>T (p.Glu3363Val) | dbSNP |
| 13 | g.32398698G>A | CA483440008 | BRCA2 | c.*708G>A (n.*708G>A) c.*1552G>A (n.*1552G>A) c.9816G>A (p.Glu3272=) c.*1747G>A (n.*1747G>A) c.10134G>A (p.Glu3378=) c.2601G>A (p.Glu867=) n.2312G>A c.10185G>A (p.Glu3395=) c.10193G>A (n.10193G>A) c.10089G>A (p.Glu3363=) | ClinVar dbSNP |
| 13 | g.32398698G>C | CA387768327 | BRCA2 | c.*708G>C (n.*708G>C) c.*1552G>C (n.*1552G>C) c.9816G>C (p.Glu3272Asp) c.*1747G>C (n.*1747G>C) c.10134G>C (p.Glu3378Asp) c.2601G>C (p.Glu867Asp) n.2312G>C c.10185G>C (p.Glu3395Asp) c.10193G>C (n.10193G>C) c.10089G>C (p.Glu3363Asp) | ClinVar dbSNP |
| 13 | g.32398698G>T | CA387768328 | BRCA2 | c.*708G>T (n.*708G>T) c.*1552G>T (n.*1552G>T) c.9816G>T (p.Glu3272Asp) c.*1747G>T (n.*1747G>T) c.10134G>T (p.Glu3378Asp) c.2601G>T (p.Glu867Asp) n.2312G>T c.10185G>T (p.Glu3395Asp) c.10193G>T (n.10193G>T) c.10089G>T (p.Glu3363Asp) | dbSNP |
| 13 | g.32398699A= | CA2082838033 | BRCA2 | c.*709A= (n.*709A=) c.*1553A= (n.*1553A=) c.9817A= (p.Ser3273=) c.*1748A= (n.*1748A=) c.10135A= (p.Ser3379=) c.2602A= (p.Ser868=) n.2313A= c.10186A= (p.Ser3396=) c.10194A= (n.10194A=) c.10090A= (p.Ser3364=) | |
| 13 | g.32398699A>C | CA387768334 | BRCA2 | c.*709A>C (n.*709A>C) c.*1553A>C (n.*1553A>C) c.9817A>C (p.Ser3273Arg) c.*1748A>C (n.*1748A>C) c.10135A>C (p.Ser3379Arg) c.2602A>C (p.Ser868Arg) n.2313A>C c.10186A>C (p.Ser3396Arg) c.10194A>C (n.10194A>C) c.10090A>C (p.Ser3364Arg) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32398699A>G | CA387768332 | BRCA2 | c.*709A>G (n.*709A>G) c.*1553A>G (n.*1553A>G) c.9817A>G (p.Ser3273Gly) c.*1748A>G (n.*1748A>G) c.10135A>G (p.Ser3379Gly) c.2602A>G (p.Ser868Gly) n.2313A>G c.10186A>G (p.Ser3396Gly) c.10194A>G (n.10194A>G) c.10090A>G (p.Ser3364Gly) | dbSNP gnomAD v4 |
| 13 | g.32398699A>T | CA387768330 | BRCA2 | c.*709A>T (n.*709A>T) c.*1553A>T (n.*1553A>T) c.9817A>T (p.Ser3273Cys) c.*1748A>T (n.*1748A>T) c.10135A>T (p.Ser3379Cys) c.2602A>T (p.Ser868Cys) n.2313A>T c.10186A>T (p.Ser3396Cys) c.10194A>T (n.10194A>T) c.10090A>T (p.Ser3364Cys) | dbSNP |
| 13 | g.32398700G>A | CA387768335 | BRCA2 | c.*710G>A (n.*710G>A) c.*1554G>A (n.*1554G>A) c.9818G>A (p.Ser3273Asn) c.*1749G>A (n.*1749G>A) c.10136G>A (p.Ser3379Asn) c.2603G>A (p.Ser868Asn) n.2314G>A c.10187G>A (p.Ser3396Asn) c.10195G>A (n.10195G>A) c.10091G>A (p.Ser3364Asn) | ClinVar dbSNP |
| 13 | g.32398700G>C | CA247509700 | BRCA2 | c.*710G>C (n.*710G>C) c.*1554G>C (n.*1554G>C) c.9818G>C (p.Ser3273Thr) c.*1749G>C (n.*1749G>C) c.10136G>C (p.Ser3379Thr) c.2603G>C (p.Ser868Thr) n.2314G>C c.10187G>C (p.Ser3396Thr) c.10195G>C (n.10195G>C) c.10091G>C (p.Ser3364Thr) | dbSNP |
| 13 | g.32398700G= | CA2082838049 | BRCA2 | c.*710G= (n.*710G=) c.*1554G= (n.*1554G=) c.9818G= (p.Ser3273=) c.*1749G= (n.*1749G=) c.10136G= (p.Ser3379=) c.2603G= (p.Ser868=) n.2314G= c.10187G= (p.Ser3396=) c.10195G= (n.10195G=) c.10091G= (p.Ser3364=) |