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.32398494dup | CA609453953 | BRCA2 | c.*504dup (n.*504dup) c.*1348dup (n.*1348dup) c.9612dup (p.Phe3205IlefsTer3) c.*1543dup (n.*1543dup) c.9930dup (p.Phe3311IlefsTer3) c.2397dup (p.Phe800IlefsTer3) n.2108dup c.9981dup (p.Phe3328IlefsTer3) c.9989dup (n.9989dup) c.9885dup (p.Phe3296IlefsTer3) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32398494del | CA2580087480 | BRCA2 | c.*504del (n.*504del) c.*1348del (n.*1348del) c.9612del (p.Lys3204AsnfsTer13) c.*1543del (n.*1543del) c.9930del (p.Lys3310AsnfsTer13) c.2397del (p.Lys799AsnfsTer13) n.2108del c.9981del (p.Lys3327AsnfsTer13) c.9989del (n.9989del) c.9885del (p.Lys3295AsnfsTer13) | ClinVar gnomAD v4 |
| 13 | g.32398494A= | CA2082836316 | BRCA2 | c.*504A= (n.*504A=) c.*1348A= (n.*1348A=) c.9612A= (p.Lys3204=) c.*1543A= (n.*1543A=) c.9930A= (p.Lys3310=) c.2397A= (p.Lys799=) n.2108A= c.9981A= (p.Lys3327=) c.9989A= (n.9989A=) c.9885A= (p.Lys3295=) | |
| 13 | g.32398494A>C | CA387767542 | BRCA2 | c.*504A>C (n.*504A>C) c.*1348A>C (n.*1348A>C) c.9612A>C (p.Lys3204Asn) c.*1543A>C (n.*1543A>C) c.9930A>C (p.Lys3310Asn) c.2397A>C (p.Lys799Asn) n.2108A>C c.9981A>C (p.Lys3327Asn) c.9989A>C (n.9989A>C) c.9885A>C (p.Lys3295Asn) | |
| 13 | g.32398494A>G | CA483440067 | BRCA2 | c.*504A>G (n.*504A>G) c.*1348A>G (n.*1348A>G) c.9612A>G (p.Lys3204=) c.*1543A>G (n.*1543A>G) c.9930A>G (p.Lys3310=) c.2397A>G (p.Lys799=) n.2108A>G c.9981A>G (p.Lys3327=) c.9989A>G (n.9989A>G) c.9885A>G (p.Lys3295=) | dbSNP |
| 13 | g.32398494A>T | CA026351 | BRCA2 | c.*504A>T (n.*504A>T) c.*1348A>T (n.*1348A>T) c.9612A>T (p.Lys3204Asn) c.*1543A>T (n.*1543A>T) c.9930A>T (p.Lys3310Asn) c.2397A>T (p.Lys799Asn) n.2108A>T c.9981A>T (p.Lys3327Asn) c.9989A>T (n.9989A>T) c.9885A>T (p.Lys3295Asn) | ClinVar dbSNP |
| 13 | g.32398495T>A | CA387767543 | BRCA2 | c.*505T>A (n.*505T>A) c.*1349T>A (n.*1349T>A) c.9613T>A (p.Phe3205Ile) c.*1544T>A (n.*1544T>A) c.9931T>A (p.Phe3311Ile) c.2398T>A (p.Phe800Ile) n.2109T>A c.9982T>A (p.Phe3328Ile) c.9990T>A (n.9990T>A) c.9886T>A (p.Phe3296Ile) | dbSNP |
| 13 | g.32398495T>C | CA387767546 | BRCA2 | c.*505T>C (n.*505T>C) c.*1349T>C (n.*1349T>C) c.9613T>C (p.Phe3205Leu) c.*1544T>C (n.*1544T>C) c.9931T>C (p.Phe3311Leu) c.2398T>C (p.Phe800Leu) n.2109T>C c.9982T>C (p.Phe3328Leu) c.9990T>C (n.9990T>C) c.9886T>C (p.Phe3296Leu) | dbSNP gnomAD v4 |
| 13 | g.32398495T>G | CA387767545 | BRCA2 | c.*505T>G (n.*505T>G) c.*1349T>G (n.*1349T>G) c.9613T>G (p.Phe3205Val) c.*1544T>G (n.*1544T>G) c.9931T>G (p.Phe3311Val) c.2398T>G (p.Phe800Val) n.2109T>G c.9982T>G (p.Phe3328Val) c.9990T>G (n.9990T>G) c.9886T>G (p.Phe3296Val) | |
| 13 | g.32398496T>A | CA387767552 | BRCA2 | c.*506T>A (n.*506T>A) c.*1350T>A (n.*1350T>A) c.9614T>A (p.Phe3205Tyr) c.*1545T>A (n.*1545T>A) c.9932T>A (p.Phe3311Tyr) c.2399T>A (p.Phe800Tyr) n.2110T>A c.9983T>A (p.Phe3328Tyr) c.9991T>A (n.9991T>A) c.9887T>A (p.Phe3296Tyr) | dbSNP |
| 13 | g.32398496T>C | CA387767564 | BRCA2 | c.*506T>C (n.*506T>C) c.*1350T>C (n.*1350T>C) c.9614T>C (p.Phe3205Ser) c.*1545T>C (n.*1545T>C) c.9932T>C (p.Phe3311Ser) c.2399T>C (p.Phe800Ser) n.2110T>C c.9983T>C (p.Phe3328Ser) c.9991T>C (n.9991T>C) c.9887T>C (p.Phe3296Ser) | |
| 13 | g.32398496T>G | CA6941460 | BRCA2 | c.*506T>G (n.*506T>G) c.*1350T>G (n.*1350T>G) c.9614T>G (p.Phe3205Cys) c.*1545T>G (n.*1545T>G) c.9932T>G (p.Phe3311Cys) c.2399T>G (p.Phe800Cys) n.2110T>G c.9983T>G (p.Phe3328Cys) c.9991T>G (n.9991T>G) c.9887T>G (p.Phe3296Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398496T= | CA2082836325 | BRCA2 | c.*506T= (n.*506T=) c.*1350T= (n.*1350T=) c.9614T= (p.Phe3205=) c.*1545T= (n.*1545T=) c.9932T= (p.Phe3311=) c.2399T= (p.Phe800=) n.2110T= c.9983T= (p.Phe3328=) c.9991T= (n.9991T=) c.9887T= (p.Phe3296=) | |
| 13 | g.32398497C>A | CA387767566 | BRCA2 | c.*507C>A (n.*507C>A) c.*1351C>A (n.*1351C>A) c.9615C>A (p.Phe3205Leu) c.*1546C>A (n.*1546C>A) c.9933C>A (p.Phe3311Leu) c.2400C>A (p.Phe800Leu) n.2111C>A c.9984C>A (p.Phe3328Leu) c.9992C>A (n.9992C>A) c.9888C>A (p.Phe3296Leu) | dbSNP |
| 13 | g.32398497C>G | CA387767569 | BRCA2 | c.*507C>G (n.*507C>G) c.*1351C>G (n.*1351C>G) c.9615C>G (p.Phe3205Leu) c.*1546C>G (n.*1546C>G) c.9933C>G (p.Phe3311Leu) c.2400C>G (p.Phe800Leu) n.2111C>G c.9984C>G (p.Phe3328Leu) c.9992C>G (n.9992C>G) c.9888C>G (p.Phe3296Leu) | dbSNP gnomAD v4 |
| 13 | g.32398497C>T | CA483440074 | BRCA2 | c.*507C>T (n.*507C>T) c.*1351C>T (n.*1351C>T) c.9615C>T (p.Phe3205=) c.*1546C>T (n.*1546C>T) c.9933C>T (p.Phe3311=) c.2400C>T (p.Phe800=) n.2111C>T c.9984C>T (p.Phe3328=) c.9992C>T (n.9992C>T) c.9888C>T (p.Phe3296=) | dbSNP |
| 13 | g.32398497_32398498delinsCA | CA2082836329 | BRCA2 | c.*507_*508delinsCA (n.*507_*508delinsCA) c.*1351_*1352delinsCA (n.*1351_*1352delinsCA) c.9615_9616delinsCA (p.Phe3205=) c.*1546_*1547delinsCA (n.*1546_*1547delinsCA) c.9933_9934delinsCA (p.Phe3311=) c.2400_2401delinsCA (p.Phe800=) n.2111_2112delinsCA c.9984_9985delinsCA (p.Phe3328=) c.9992_9993delinsCA (n.9992_9993delinsCA) c.9888_9889delinsCA (p.Phe3296=) | |
| 13 | g.32398498A= | CA2082836345 | BRCA2 | c.*508A= (n.*508A=) c.*1352A= (n.*1352A=) c.9616A= (p.Asn3206=) c.*1547A= (n.*1547A=) c.9934A= (p.Asn3312=) c.2401A= (p.Asn801=) n.2112A= c.9985A= (p.Asn3329=) c.9993A= (n.9993A=) c.9889A= (p.Asn3297=) | |
| 13 | g.32398498A>C | CA387767571 | BRCA2 | c.*508A>C (n.*508A>C) c.*1352A>C (n.*1352A>C) c.9616A>C (p.Asn3206His) c.*1547A>C (n.*1547A>C) c.9934A>C (p.Asn3312His) c.2401A>C (p.Asn801His) n.2112A>C c.9985A>C (p.Asn3329His) c.9993A>C (n.9993A>C) c.9889A>C (p.Asn3297His) | ClinVar dbSNP |
| 13 | g.32398498A>G | CA387767572 | BRCA2 | c.*508A>G (n.*508A>G) c.*1352A>G (n.*1352A>G) c.9616A>G (p.Asn3206Asp) c.*1547A>G (n.*1547A>G) c.9934A>G (p.Asn3312Asp) c.2401A>G (p.Asn801Asp) n.2112A>G c.9985A>G (p.Asn3329Asp) c.9993A>G (n.9993A>G) c.9889A>G (p.Asn3297Asp) | |
| 13 | g.32398498A>T | CA387767573 | BRCA2 | c.*508A>T (n.*508A>T) c.*1352A>T (n.*1352A>T) c.9616A>T (p.Asn3206Tyr) c.*1547A>T (n.*1547A>T) c.9934A>T (p.Asn3312Tyr) c.2401A>T (p.Asn801Tyr) n.2112A>T c.9985A>T (p.Asn3329Tyr) c.9993A>T (n.9993A>T) c.9889A>T (p.Asn3297Tyr) | dbSNP |
| 13 | g.32398499del | CA16619801 | BRCA2 | c.*509del (n.*509del) c.*1353del (n.*1353del) c.9617del (p.Asn3206MetfsTer11) c.*1548del (n.*1548del) c.9935del (p.Asn3312MetfsTer11) c.2402del (p.Asn801MetfsTer11) n.2113del c.9986del (p.Asn3329MetfsTer11) c.9994del (n.9994del) c.9890del (p.Asn3297MetfsTer11) | ClinVar dbSNP |
| 13 | g.32398498_32398499insGGCCGGGCGCGGTGGCTCACGCCTGT | CA2622602761 | BRCA2 | c.*508_*509insGGCCGGGCGCGGTGGCTCACGCCTGT (n.*508_*509insGGCCGGGCGCGGTGGCTCACGCCTGT) c.*1352_*1353insGGCCGGGCGCGGTGGCTCACGCCTGT (n.*1352_*1353insGGCCGGGCGCGGTGGCTCACGCCTGT) c.9616_9617insGGCCGGGCGCGGTGGCTCACGCCTGT (p.Asn3206ArgfsTer20) c.*1547_*1548insGGCCGGGCGCGGTGGCTCACGCCTGT (n.*1547_*1548insGGCCGGGCGCGGTGGCTCACGCCTGT) c.9934_9935insGGCCGGGCGCGGTGGCTCACGCCTGT (p.Asn3312ArgfsTer20) c.2401_2402insGGCCGGGCGCGGTGGCTCACGCCTGT (p.Asn801ArgfsTer20) n.2112_2113insGGCCGGGCGCGGTGGCTCACGCCTGT c.9985_9986insGGCCGGGCGCGGTGGCTCACGCCTGT (p.Asn3329ArgfsTer20) c.9993_9994insGGCCGGGCGCGGTGGCTCACGCCTGT (n.9993_9994insGGCCGGGCGCGGTGGCTCACGCCTGT) c.9889_9890insGGCCGGGCGCGGTGGCTCACGCCTGT (p.Asn3297ArgfsTer20) | gnomAD v4 |
| 13 | g.32398499A= | CA2082836367 | BRCA2 | c.*509A= (n.*509A=) c.*1353A= (n.*1353A=) c.9617A= (p.Asn3206=) c.*1548A= (n.*1548A=) c.9935A= (p.Asn3312=) c.2402A= (p.Asn801=) n.2113A= c.9986A= (p.Asn3329=) c.9994A= (n.9994A=) c.9890A= (p.Asn3297=) | |
| 13 | g.32398499A>C | CA6941461 | BRCA2 | c.*509A>C (n.*509A>C) c.*1353A>C (n.*1353A>C) c.9617A>C (p.Asn3206Thr) c.*1548A>C (n.*1548A>C) c.9935A>C (p.Asn3312Thr) c.2402A>C (p.Asn801Thr) n.2113A>C c.9986A>C (p.Asn3329Thr) c.9994A>C (n.9994A>C) c.9890A>C (p.Asn3297Thr) | dbSNP ExAC gnomAD v2 |
| 13 | g.32398499A>G | CA026352 | BRCA2 | c.*509A>G (n.*509A>G) c.*1353A>G (n.*1353A>G) c.9617A>G (p.Asn3206Ser) c.*1548A>G (n.*1548A>G) c.9935A>G (p.Asn3312Ser) c.2402A>G (p.Asn801Ser) n.2113A>G c.9986A>G (p.Asn3329Ser) c.9994A>G (n.9994A>G) c.9890A>G (p.Asn3297Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398499A>T | CA387767584 | BRCA2 | c.*509A>T (n.*509A>T) c.*1353A>T (n.*1353A>T) c.9617A>T (p.Asn3206Ile) c.*1548A>T (n.*1548A>T) c.9935A>T (p.Asn3312Ile) c.2402A>T (p.Asn801Ile) n.2113A>T c.9986A>T (p.Asn3329Ile) c.9994A>T (n.9994A>T) c.9890A>T (p.Asn3297Ile) | dbSNP COSMIC COSMIC |
| 13 | g.32398500T>A | CA387767586 | BRCA2 | c.*510T>A (n.*510T>A) c.*1354T>A (n.*1354T>A) c.9618T>A (p.Asn3206Lys) c.*1549T>A (n.*1549T>A) c.9936T>A (p.Asn3312Lys) c.2403T>A (p.Asn801Lys) n.2114T>A c.9987T>A (p.Asn3329Lys) c.9995T>A (n.9995T>A) c.9891T>A (p.Asn3297Lys) | dbSNP |
| 13 | g.32398500T>C | CA483440080 | BRCA2 | c.*510T>C (n.*510T>C) c.*1354T>C (n.*1354T>C) c.9618T>C (p.Asn3206=) c.*1549T>C (n.*1549T>C) c.9936T>C (p.Asn3312=) c.2403T>C (p.Asn801=) n.2114T>C c.9987T>C (p.Asn3329=) c.9995T>C (n.9995T>C) c.9891T>C (p.Asn3297=) | |
| 13 | g.32398500T>G | CA387767588 | BRCA2 | c.*510T>G (n.*510T>G) c.*1354T>G (n.*1354T>G) c.9618T>G (p.Asn3206Lys) c.*1549T>G (n.*1549T>G) c.9936T>G (p.Asn3312Lys) c.2403T>G (p.Asn801Lys) n.2114T>G c.9987T>G (p.Asn3329Lys) c.9995T>G (n.9995T>G) c.9891T>G (p.Asn3297Lys) | |
| 13 | g.32398501G>A | CA387767590 | BRCA2 | c.*511G>A (n.*511G>A) c.*1355G>A (n.*1355G>A) c.9619G>A (p.Glu3207Lys) c.*1550G>A (n.*1550G>A) c.9937G>A (p.Glu3313Lys) c.2404G>A (p.Glu802Lys) n.2115G>A c.9988G>A (p.Glu3330Lys) c.9996G>A (n.9996G>A) c.9892G>A (p.Glu3298Lys) | ClinVar dbSNP |
| 13 | g.32398501G>C | CA387767592 | BRCA2 | c.*511G>C (n.*511G>C) c.*1355G>C (n.*1355G>C) c.9619G>C (p.Glu3207Gln) c.*1550G>C (n.*1550G>C) c.9937G>C (p.Glu3313Gln) c.2404G>C (p.Glu802Gln) n.2115G>C c.9988G>C (p.Glu3330Gln) c.9996G>C (n.9996G>C) c.9892G>C (p.Glu3298Gln) | dbSNP |
| 13 | g.32398501G>T | CA387767593 | BRCA2 | c.*511G>T (n.*511G>T) c.*1355G>T (n.*1355G>T) c.9619G>T (p.Glu3207Ter) c.*1550G>T (n.*1550G>T) c.9937G>T (p.Glu3313Ter) c.2404G>T (p.Glu802Ter) n.2115G>T c.9988G>T (p.Glu3330Ter) c.9996G>T (n.9996G>T) c.9892G>T (p.Glu3298Ter) | dbSNP |
| 13 | g.32398502A>C | CA387767598 | BRCA2 | c.*512A>C (n.*512A>C) c.*1356A>C (n.*1356A>C) c.9620A>C (p.Glu3207Ala) c.*1551A>C (n.*1551A>C) c.9938A>C (p.Glu3313Ala) c.2405A>C (p.Glu802Ala) n.2116A>C c.9989A>C (p.Glu3330Ala) c.9997A>C (n.9997A>C) c.9893A>C (p.Glu3298Ala) | |
| 13 | g.32398502A>G | CA387767595 | BRCA2 | c.*512A>G (n.*512A>G) c.*1356A>G (n.*1356A>G) c.9620A>G (p.Glu3207Gly) c.*1551A>G (n.*1551A>G) c.9938A>G (p.Glu3313Gly) c.2405A>G (p.Glu802Gly) n.2116A>G c.9989A>G (p.Glu3330Gly) c.9997A>G (n.9997A>G) c.9893A>G (p.Glu3298Gly) | |
| 13 | g.32398502A>T | CA387767594 | BRCA2 | c.*512A>T (n.*512A>T) c.*1356A>T (n.*1356A>T) c.9620A>T (p.Glu3207Val) c.*1551A>T (n.*1551A>T) c.9938A>T (p.Glu3313Val) c.2405A>T (p.Glu802Val) n.2116A>T c.9989A>T (p.Glu3330Val) c.9997A>T (n.9997A>T) c.9893A>T (p.Glu3298Val) | ClinVar dbSNP |
| 13 | g.32398503A= | CA2082836371 | BRCA2 | c.*513A= (n.*513A=) c.*1357A= (n.*1357A=) c.9621A= (p.Glu3207=) c.*1552A= (n.*1552A=) c.9939A= (p.Glu3313=) c.2406A= (p.Glu802=) n.2117A= c.9990A= (p.Glu3330=) c.9998A= (n.9998A=) c.9894A= (p.Glu3298=) | |
| 13 | g.32398503A>C | CA16606711 | BRCA2 | c.*513A>C (n.*513A>C) c.*1357A>C (n.*1357A>C) c.9621A>C (p.Glu3207Asp) c.*1552A>C (n.*1552A>C) c.9939A>C (p.Glu3313Asp) c.2406A>C (p.Glu802Asp) n.2117A>C c.9990A>C (p.Glu3330Asp) c.9998A>C (n.9998A>C) c.9894A>C (p.Glu3298Asp) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398503A>G | CA483440090 | BRCA2 | c.*513A>G (n.*513A>G) c.*1357A>G (n.*1357A>G) c.9621A>G (p.Glu3207=) c.*1552A>G (n.*1552A>G) c.9939A>G (p.Glu3313=) c.2406A>G (p.Glu802=) n.2117A>G c.9990A>G (p.Glu3330=) c.9998A>G (n.9998A>G) c.9894A>G (p.Glu3298=) | dbSNP gnomAD v4 |
| 13 | g.32398503A>T | CA387767607 | BRCA2 | c.*513A>T (n.*513A>T) c.*1357A>T (n.*1357A>T) c.9621A>T (p.Glu3207Asp) c.*1552A>T (n.*1552A>T) c.9939A>T (p.Glu3313Asp) c.2406A>T (p.Glu802Asp) n.2117A>T c.9990A>T (p.Glu3330Asp) c.9998A>T (n.9998A>T) c.9894A>T (p.Glu3298Asp) | dbSNP |
| 13 | g.32398503_32398505del | CA2695217836 | BRCA2 | c.*513_*515del (n.*513_*515del) c.*1357_*1359del (n.*1357_*1359del) c.9621_9623del (p.Glu3207_Ile3208delinsAsp) c.*1552_*1554del (n.*1552_*1554del) c.9939_9941del (p.Glu3313_Ile3314delinsAsp) c.2406_2408del (p.Glu802_Ile803delinsAsp) n.2117_2119del c.9990_9992del (p.Glu3330_Ile3331delinsAsp) c.9998_10000del (n.9998_10000del) c.9894_9896del (p.Glu3298_Ile3299delinsAsp) | |
| 13 | g.32398504A>C | CA387767609 | BRCA2 | c.*514A>C (n.*514A>C) c.*1358A>C (n.*1358A>C) c.9622A>C (p.Ile3208Leu) c.*1553A>C (n.*1553A>C) c.9940A>C (p.Ile3314Leu) c.2407A>C (p.Ile803Leu) n.2118A>C c.9991A>C (p.Ile3331Leu) c.9999A>C (n.9999A>C) c.9895A>C (p.Ile3299Leu) | |
| 13 | g.32398504A>G | CA387767611 | BRCA2 | c.*514A>G (n.*514A>G) c.*1358A>G (n.*1358A>G) c.9622A>G (p.Ile3208Val) c.*1553A>G (n.*1553A>G) c.9940A>G (p.Ile3314Val) c.2407A>G (p.Ile803Val) n.2118A>G c.9991A>G (p.Ile3331Val) c.9999A>G (n.9999A>G) c.9895A>G (p.Ile3299Val) | |
| 13 | g.32398504A>T | CA387767614 | BRCA2 | c.*514A>T (n.*514A>T) c.*1358A>T (n.*1358A>T) c.9622A>T (p.Ile3208Phe) c.*1553A>T (n.*1553A>T) c.9940A>T (p.Ile3314Phe) c.2407A>T (p.Ile803Phe) n.2118A>T c.9991A>T (p.Ile3331Phe) c.9999A>T (n.9999A>T) c.9895A>T (p.Ile3299Phe) | |
| 13 | g.32398505T>A | CA387767615 | BRCA2 | c.*515T>A (n.*515T>A) c.*1359T>A (n.*1359T>A) c.9623T>A (p.Ile3208Asn) c.*1554T>A (n.*1554T>A) c.9941T>A (p.Ile3314Asn) c.2408T>A (p.Ile803Asn) n.2119T>A c.9992T>A (p.Ile3331Asn) c.10000T>A (n.10000T>A) c.9896T>A (p.Ile3299Asn) | dbSNP |
| 13 | g.32398505T>C | CA387767616 | BRCA2 | c.*515T>C (n.*515T>C) c.*1359T>C (n.*1359T>C) c.9623T>C (p.Ile3208Thr) c.*1554T>C (n.*1554T>C) c.9941T>C (p.Ile3314Thr) c.2408T>C (p.Ile803Thr) n.2119T>C c.9992T>C (p.Ile3331Thr) c.10000T>C (n.10000T>C) c.9896T>C (p.Ile3299Thr) | dbSNP COSMIC COSMIC |