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.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.32398300_32398302delinsAAG | CA2082835159 | BRCA2 | c.*310_*312delinsAAG (n.*310_*312delinsAAG) c.*1154_*1156delinsAAG (n.*1154_*1156delinsAAG) c.9418_9420delinsAAG (p.Lys3140=) c.*1349_*1351delinsAAG (n.*1349_*1351delinsAAG) c.9736_9738delinsAAG (p.Lys3246=) c.2203_2205delinsAAG (p.Lys735=) n.1914_1916delinsAAG c.9787_9789delinsAAG (p.Lys3263=) c.9795_9797delinsAAG (n.9795_9797delinsAAG) n.375_377delinsAAG c.9691_9693delinsAAG (p.Lys3231=) | |
| 13 | g.32398301A>C | CA387765993 | BRCA2 | c.*311A>C (n.*311A>C) c.*1155A>C (n.*1155A>C) c.9419A>C (p.Lys3140Thr) c.*1350A>C (n.*1350A>C) c.9737A>C (p.Lys3246Thr) c.2204A>C (p.Lys735Thr) n.1915A>C c.9788A>C (p.Lys3263Thr) c.9796A>C (n.9796A>C) n.376A>C c.9692A>C (p.Lys3231Thr) | |
| 13 | g.32398301A>G | CA387765983 | BRCA2 | c.*311A>G (n.*311A>G) c.*1155A>G (n.*1155A>G) c.9419A>G (p.Lys3140Arg) c.*1350A>G (n.*1350A>G) c.9737A>G (p.Lys3246Arg) c.2204A>G (p.Lys735Arg) n.1915A>G c.9788A>G (p.Lys3263Arg) c.9796A>G (n.9796A>G) n.376A>G c.9692A>G (p.Lys3231Arg) | dbSNP |
| 13 | g.32398301A>T | CA387765987 | BRCA2 | c.*311A>T (n.*311A>T) c.*1155A>T (n.*1155A>T) c.9419A>T (p.Lys3140Met) c.*1350A>T (n.*1350A>T) c.9737A>T (p.Lys3246Met) c.2204A>T (p.Lys735Met) n.1915A>T c.9788A>T (p.Lys3263Met) c.9796A>T (n.9796A>T) n.376A>T c.9692A>T (p.Lys3231Met) | dbSNP |
| 13 | g.32398302_32398303del | CA10589574 | BRCA2 | c.*312_*313del (n.*312_*313del) c.*1156_*1157del (n.*1156_*1157del) c.9420_9421del (p.Asn3141LeufsTer12) c.*1351_*1352del (n.*1351_*1352del) c.9738_9739del (p.Asn3247LeufsTer12) c.2205_2206del (p.Asn736LeufsTer12) n.1916_1917del c.9789_9790del (p.Asn3264LeufsTer12) c.9797_9798del (n.9797_9798del) n.377_378del c.9693_9694del (p.Asn3232LeufsTer12) | ClinVar dbSNP |
| 13 | g.32398302G>A | CA483440070 | BRCA2 | c.*312G>A (n.*312G>A) c.*1156G>A (n.*1156G>A) c.9420G>A (p.Lys3140=) c.*1351G>A (n.*1351G>A) c.9738G>A (p.Lys3246=) c.2205G>A (p.Lys735=) n.1916G>A c.9789G>A (p.Lys3263=) c.9797G>A (n.9797G>A) n.377G>A c.9693G>A (p.Lys3231=) | ClinVar dbSNP |
| 13 | g.32398302G>C | CA387765996 | BRCA2 | c.*312G>C (n.*312G>C) c.*1156G>C (n.*1156G>C) c.9420G>C (p.Lys3140Asn) c.*1351G>C (n.*1351G>C) c.9738G>C (p.Lys3246Asn) c.2205G>C (p.Lys735Asn) n.1916G>C c.9789G>C (p.Lys3263Asn) c.9797G>C (n.9797G>C) n.377G>C c.9693G>C (p.Lys3231Asn) | dbSNP |
| 13 | g.32398302G= | CA2082835179 | BRCA2 | c.*312G= (n.*312G=) c.*1156G= (n.*1156G=) c.9420G= (p.Lys3140=) c.*1351G= (n.*1351G=) c.9738G= (p.Lys3246=) c.2205G= (p.Lys735=) n.1916G= c.9789G= (p.Lys3263=) c.9797G= (n.9797G=) n.377G= c.9693G= (p.Lys3231=) | |
| 13 | g.32398302G>T | CA387765997 | BRCA2 | c.*312G>T (n.*312G>T) c.*1156G>T (n.*1156G>T) c.9420G>T (p.Lys3140Asn) c.*1351G>T (n.*1351G>T) c.9738G>T (p.Lys3246Asn) c.2205G>T (p.Lys735Asn) n.1916G>T c.9789G>T (p.Lys3263Asn) c.9797G>T (n.9797G>T) n.377G>T c.9693G>T (p.Lys3231Asn) | ClinVar dbSNP |
| 13 | g.32398303A>C | CA387765998 | BRCA2 | c.*313A>C (n.*313A>C) c.*1157A>C (n.*1157A>C) c.9421A>C (p.Asn3141His) c.*1352A>C (n.*1352A>C) c.9739A>C (p.Asn3247His) c.2206A>C (p.Asn736His) n.1917A>C c.9790A>C (p.Asn3264His) c.9798A>C (n.9798A>C) n.378A>C c.9694A>C (p.Asn3232His) | |
| 13 | g.32398303A>G | CA387765999 | BRCA2 | c.*313A>G (n.*313A>G) c.*1157A>G (n.*1157A>G) c.9421A>G (p.Asn3141Asp) c.*1352A>G (n.*1352A>G) c.9739A>G (p.Asn3247Asp) c.2206A>G (p.Asn736Asp) n.1917A>G c.9790A>G (p.Asn3264Asp) c.9798A>G (n.9798A>G) n.378A>G c.9694A>G (p.Asn3232Asp) | dbSNP |
| 13 | g.32398303A>T | CA387766000 | BRCA2 | c.*313A>T (n.*313A>T) c.*1157A>T (n.*1157A>T) c.9421A>T (p.Asn3141Tyr) c.*1352A>T (n.*1352A>T) c.9739A>T (p.Asn3247Tyr) c.2206A>T (p.Asn736Tyr) n.1917A>T c.9790A>T (p.Asn3264Tyr) c.9798A>T (n.9798A>T) n.378A>T c.9694A>T (p.Asn3232Tyr) | dbSNP |
| 13 | g.32398304A>C | CA387766002 | BRCA2 | c.*314A>C (n.*314A>C) c.*1158A>C (n.*1158A>C) c.9422A>C (p.Asn3141Thr) c.*1353A>C (n.*1353A>C) c.9740A>C (p.Asn3247Thr) c.2207A>C (p.Asn736Thr) n.1918A>C c.9791A>C (p.Asn3264Thr) c.9799A>C (n.9799A>C) n.379A>C c.9695A>C (p.Asn3232Thr) | |
| 13 | g.32398304A>G | CA387766004 | BRCA2 | c.*314A>G (n.*314A>G) c.*1158A>G (n.*1158A>G) c.9422A>G (p.Asn3141Ser) c.*1353A>G (n.*1353A>G) c.9740A>G (p.Asn3247Ser) c.2207A>G (p.Asn736Ser) n.1918A>G c.9791A>G (p.Asn3264Ser) c.9799A>G (n.9799A>G) n.379A>G c.9695A>G (p.Asn3232Ser) | |
| 13 | g.32398304A>T | CA387766006 | BRCA2 | c.*314A>T (n.*314A>T) c.*1158A>T (n.*1158A>T) c.9422A>T (p.Asn3141Ile) c.*1353A>T (n.*1353A>T) c.9740A>T (p.Asn3247Ile) c.2207A>T (p.Asn736Ile) n.1918A>T c.9791A>T (p.Asn3264Ile) c.9799A>T (n.9799A>T) n.379A>T c.9695A>T (p.Asn3232Ile) | dbSNP |
| 13 | g.32398305C>A | CA387766009 | BRCA2 | c.*315C>A (n.*315C>A) c.*1159C>A (n.*1159C>A) c.9423C>A (p.Asn3141Lys) c.*1354C>A (n.*1354C>A) c.9741C>A (p.Asn3247Lys) c.2208C>A (p.Asn736Lys) n.1919C>A c.9792C>A (p.Asn3264Lys) c.9800C>A (n.9800C>A) n.380C>A c.9696C>A (p.Asn3232Lys) | ClinVar dbSNP |
| 13 | g.32398305C= | CA2082835186 | BRCA2 | c.*315C= (n.*315C=) c.*1159C= (n.*1159C=) c.9423C= (p.Asn3141=) c.*1354C= (n.*1354C=) c.9741C= (p.Asn3247=) c.2208C= (p.Asn736=) n.1919C= c.9792C= (p.Asn3264=) c.9800C= (n.9800C=) n.380C= c.9696C= (p.Asn3232=) | |
| 13 | g.32398305C>G | CA387766014 | BRCA2 | c.*315C>G (n.*315C>G) c.*1159C>G (n.*1159C>G) c.9423C>G (p.Asn3141Lys) c.*1354C>G (n.*1354C>G) c.9741C>G (p.Asn3247Lys) c.2208C>G (p.Asn736Lys) n.1919C>G c.9792C>G (p.Asn3264Lys) c.9800C>G (n.9800C>G) n.380C>G c.9696C>G (p.Asn3232Lys) | dbSNP |
| 13 | g.32398305C>T | CA483440075 | BRCA2 | c.*315C>T (n.*315C>T) c.*1159C>T (n.*1159C>T) c.9423C>T (p.Asn3141=) c.*1354C>T (n.*1354C>T) c.9741C>T (p.Asn3247=) c.2208C>T (p.Asn736=) n.1919C>T c.9792C>T (p.Asn3264=) c.9800C>T (n.9800C>T) n.380C>T c.9696C>T (p.Asn3232=) | ClinVar dbSNP |
| 13 | g.32398306T>A | CA387766023 | BRCA2 | c.*316T>A (n.*316T>A) c.*1160T>A (n.*1160T>A) c.9424T>A (p.Cys3142Ser) c.*1355T>A (n.*1355T>A) c.9742T>A (p.Cys3248Ser) c.2209T>A (p.Cys737Ser) n.1920T>A c.9793T>A (p.Cys3265Ser) c.9801T>A (n.9801T>A) n.381T>A c.9697T>A (p.Cys3233Ser) | ClinVar dbSNP |
| 13 | g.32398306T>C | CA026297 | BRCA2 | c.*316T>C (n.*316T>C) c.*1160T>C (n.*1160T>C) c.9424T>C (p.Cys3142Arg) c.*1355T>C (n.*1355T>C) c.9742T>C (p.Cys3248Arg) c.2209T>C (p.Cys737Arg) n.1920T>C c.9793T>C (p.Cys3265Arg) c.9801T>C (n.9801T>C) n.381T>C c.9697T>C (p.Cys3233Arg) | ClinVar dbSNP |
| 13 | g.32398306T>G | CA387766019 | BRCA2 | c.*316T>G (n.*316T>G) c.*1160T>G (n.*1160T>G) c.9424T>G (p.Cys3142Gly) c.*1355T>G (n.*1355T>G) c.9742T>G (p.Cys3248Gly) c.2209T>G (p.Cys737Gly) n.1920T>G c.9793T>G (p.Cys3265Gly) c.9801T>G (n.9801T>G) n.381T>G c.9697T>G (p.Cys3233Gly) | ClinVar dbSNP |
| 13 | g.32398306T= | CA2082835195 | BRCA2 | c.*316T= (n.*316T=) c.*1160T= (n.*1160T=) c.9424T= (p.Cys3142=) c.*1355T= (n.*1355T=) c.9742T= (p.Cys3248=) c.2209T= (p.Cys737=) n.1920T= c.9793T= (p.Cys3265=) c.9801T= (n.9801T=) n.381T= c.9697T= (p.Cys3233=) | |
| 13 | g.32398307G>A | CA247509053 | BRCA2 | c.*317G>A (n.*317G>A) c.*1161G>A (n.*1161G>A) c.9425G>A (p.Cys3142Tyr) c.*1356G>A (n.*1356G>A) c.9743G>A (p.Cys3248Tyr) c.2210G>A (p.Cys737Tyr) n.1921G>A c.9794G>A (p.Cys3265Tyr) c.9802G>A (n.9802G>A) n.382G>A c.9698G>A (p.Cys3233Tyr) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398307G>C | CA387766030 | BRCA2 | c.*317G>C (n.*317G>C) c.*1161G>C (n.*1161G>C) c.9425G>C (p.Cys3142Ser) c.*1356G>C (n.*1356G>C) c.9743G>C (p.Cys3248Ser) c.2210G>C (p.Cys737Ser) n.1921G>C c.9794G>C (p.Cys3265Ser) c.9802G>C (n.9802G>C) n.382G>C c.9698G>C (p.Cys3233Ser) | dbSNP |
| 13 | g.32398307G= | CA2082835211 | BRCA2 | c.*317G= (n.*317G=) c.*1161G= (n.*1161G=) c.9425G= (p.Cys3142=) c.*1356G= (n.*1356G=) c.9743G= (p.Cys3248=) c.2210G= (p.Cys737=) n.1921G= c.9794G= (p.Cys3265=) c.9802G= (n.9802G=) n.382G= c.9698G= (p.Cys3233=) | |
| 13 | g.32398307G>T | CA387766032 | BRCA2 | c.*317G>T (n.*317G>T) c.*1161G>T (n.*1161G>T) c.9425G>T (p.Cys3142Phe) c.*1356G>T (n.*1356G>T) c.9743G>T (p.Cys3248Phe) c.2210G>T (p.Cys737Phe) n.1921G>T c.9794G>T (p.Cys3265Phe) c.9802G>T (n.9802G>T) n.382G>T c.9698G>T (p.Cys3233Phe) | dbSNP |
| 13 | g.32398308C>A | CA387766036 | BRCA2 | c.*318C>A (n.*318C>A) c.*1162C>A (n.*1162C>A) c.9426C>A (p.Cys3142Ter) c.*1357C>A (n.*1357C>A) c.9744C>A (p.Cys3248Ter) c.2211C>A (p.Cys737Ter) n.1922C>A c.9795C>A (p.Cys3265Ter) c.9803C>A (n.9803C>A) n.383C>A c.9699C>A (p.Cys3233Ter) | dbSNP |
| 13 | g.32398308C= | CA2082835219 | BRCA2 | c.*318C= (n.*318C=) c.*1162C= (n.*1162C=) c.9426C= (p.Cys3142=) c.*1357C= (n.*1357C=) c.9744C= (p.Cys3248=) c.2211C= (p.Cys737=) n.1922C= c.9795C= (p.Cys3265=) c.9803C= (n.9803C=) n.383C= c.9699C= (p.Cys3233=) | |
| 13 | g.32398308C>G | CA10579846 | BRCA2 | c.*318C>G (n.*318C>G) c.*1162C>G (n.*1162C>G) c.9426C>G (p.Cys3142Trp) c.*1357C>G (n.*1357C>G) c.9744C>G (p.Cys3248Trp) c.2211C>G (p.Cys737Trp) n.1922C>G c.9795C>G (p.Cys3265Trp) c.9803C>G (n.9803C>G) n.383C>G c.9699C>G (p.Cys3233Trp) | ClinVar dbSNP |
| 13 | g.32398308C>T | CA483440082 | BRCA2 | c.*318C>T (n.*318C>T) c.*1162C>T (n.*1162C>T) c.9426C>T (p.Cys3142=) c.*1357C>T (n.*1357C>T) c.9744C>T (p.Cys3248=) c.2211C>T (p.Cys737=) n.1922C>T c.9795C>T (p.Cys3265=) c.9803C>T (n.9803C>T) n.383C>T c.9699C>T (p.Cys3233=) | dbSNP |
| 13 | g.32398308_32398309delinsCA | CA2082835222 | BRCA2 | c.*318_*319delinsCA (n.*318_*319delinsCA) c.*1162_*1163delinsCA (n.*1162_*1163delinsCA) c.9426_9427delinsCA (p.Cys3142=) c.*1357_*1358delinsCA (n.*1357_*1358delinsCA) c.9744_9745delinsCA (p.Cys3248=) c.2211_2212delinsCA (p.Cys737=) n.1922_1923delinsCA c.9795_9796delinsCA (p.Cys3265=) c.9803_9804delinsCA (n.9803_9804delinsCA) n.383_384delinsCA c.9699_9700delinsCA (p.Cys3233=) | |
| 13 | g.32398309A>C | CA387766038 | BRCA2 | c.*319A>C (n.*319A>C) c.*1163A>C (n.*1163A>C) c.9427A>C (p.Lys3143Gln) c.*1358A>C (n.*1358A>C) c.9745A>C (p.Lys3249Gln) c.2212A>C (p.Lys738Gln) n.1923A>C c.9796A>C (p.Lys3266Gln) c.9804A>C (n.9804A>C) n.384A>C c.9700A>C (p.Lys3234Gln) | |
| 13 | g.32398309A>G | CA387766040 | BRCA2 | c.*319A>G (n.*319A>G) c.*1163A>G (n.*1163A>G) c.9427A>G (p.Lys3143Glu) c.*1358A>G (n.*1358A>G) c.9745A>G (p.Lys3249Glu) c.2212A>G (p.Lys738Glu) n.1923A>G c.9796A>G (p.Lys3266Glu) c.9804A>G (n.9804A>G) n.384A>G c.9700A>G (p.Lys3234Glu) | |
| 13 | g.32398309A>T | CA387766041 | BRCA2 | c.*319A>T (n.*319A>T) c.*1163A>T (n.*1163A>T) c.9427A>T (p.Lys3143Ter) c.*1358A>T (n.*1358A>T) c.9745A>T (p.Lys3249Ter) c.2212A>T (p.Lys738Ter) n.1923A>T c.9796A>T (p.Lys3266Ter) c.9804A>T (n.9804A>T) n.384A>T c.9700A>T (p.Lys3234Ter) | dbSNP |
| 13 | g.32398313dup | CA1139663204 | BRCA2 | c.*323dup (n.*323dup) c.*1167dup (n.*1167dup) c.9431dup (p.Arg3145GlufsTer9) c.*1362dup (n.*1362dup) c.9749dup (p.Arg3251GlufsTer9) c.2216dup (p.Arg740GlufsTer9) n.1927dup c.9800dup (p.Arg3268GlufsTer9) c.9808dup (n.9808dup) n.388dup c.9704dup (p.Arg3236GlufsTer9) | ClinVar dbSNP |
| 13 | g.32398313del | CA919242999 | BRCA2 | c.*323del (n.*323del) c.*1167del (n.*1167del) c.9431del (p.Lys3144ArgfsTer8) c.*1362del (n.*1362del) c.9749del (p.Lys3250ArgfsTer8) c.2216del (p.Lys739ArgfsTer8) n.1927del c.9800del (p.Lys3267ArgfsTer8) c.9808del (n.9808del) n.388del c.9704del (p.Lys3235ArgfsTer8) | ClinVar dbSNP |
| 13 | g.32398312_32398313del | CA2580087457 | BRCA2 | c.*322_*323del (n.*322_*323del) c.*1166_*1167del (n.*1166_*1167del) c.9430_9431del (p.Lys3144GlufsTer9) c.*1361_*1362del (n.*1361_*1362del) c.9748_9749del (p.Lys3250GlufsTer9) c.2215_2216del (p.Lys739GlufsTer9) n.1926_1927del c.9799_9800del (p.Lys3267GlufsTer9) c.9807_9808del (n.9807_9808del) n.387_388del c.9703_9704del (p.Lys3235GlufsTer9) | ClinVar |
| 13 | g.32398310A>C | CA387766043 | BRCA2 | c.*320A>C (n.*320A>C) c.*1164A>C (n.*1164A>C) c.9428A>C (p.Lys3143Thr) c.*1359A>C (n.*1359A>C) c.9746A>C (p.Lys3249Thr) c.2213A>C (p.Lys738Thr) n.1924A>C c.9797A>C (p.Lys3266Thr) c.9805A>C (n.9805A>C) n.385A>C c.9701A>C (p.Lys3234Thr) | |
| 13 | g.32398310A>G | CA387766045 | BRCA2 | c.*320A>G (n.*320A>G) c.*1164A>G (n.*1164A>G) c.9428A>G (p.Lys3143Arg) c.*1359A>G (n.*1359A>G) c.9746A>G (p.Lys3249Arg) c.2213A>G (p.Lys738Arg) n.1924A>G c.9797A>G (p.Lys3266Arg) c.9805A>G (n.9805A>G) n.385A>G c.9701A>G (p.Lys3234Arg) | |
| 13 | g.32398310A>T | CA387766046 | BRCA2 | c.*320A>T (n.*320A>T) c.*1164A>T (n.*1164A>T) c.9428A>T (p.Lys3143Ile) c.*1359A>T (n.*1359A>T) c.9746A>T (p.Lys3249Ile) c.2213A>T (p.Lys738Ile) n.1924A>T c.9797A>T (p.Lys3266Ile) c.9805A>T (n.9805A>T) n.385A>T c.9701A>T (p.Lys3234Ile) | dbSNP |
| 13 | g.32398311A>C | CA387766047 | BRCA2 | c.*321A>C (n.*321A>C) c.*1165A>C (n.*1165A>C) c.9429A>C (p.Lys3143Asn) c.*1360A>C (n.*1360A>C) c.9747A>C (p.Lys3249Asn) c.2214A>C (p.Lys738Asn) n.1925A>C c.9798A>C (p.Lys3266Asn) c.9806A>C (n.9806A>C) n.386A>C c.9702A>C (p.Lys3234Asn) | |
| 13 | g.32398311A>G | CA483440087 | BRCA2 | c.*321A>G (n.*321A>G) c.*1165A>G (n.*1165A>G) c.9429A>G (p.Lys3143=) c.*1360A>G (n.*1360A>G) c.9747A>G (p.Lys3249=) c.2214A>G (p.Lys738=) n.1925A>G c.9798A>G (p.Lys3266=) c.9806A>G (n.9806A>G) n.386A>G c.9702A>G (p.Lys3234=) | |
| 13 | g.32398311A>T | CA387766048 | BRCA2 | c.*321A>T (n.*321A>T) c.*1165A>T (n.*1165A>T) c.9429A>T (p.Lys3143Asn) c.*1360A>T (n.*1360A>T) c.9747A>T (p.Lys3249Asn) c.2214A>T (p.Lys738Asn) n.1925A>T c.9798A>T (p.Lys3266Asn) c.9806A>T (n.9806A>T) n.386A>T c.9702A>T (p.Lys3234Asn) | dbSNP |
| 13 | g.32398312A>C | CA387766050 | BRCA2 | c.*322A>C (n.*322A>C) c.*1166A>C (n.*1166A>C) c.9430A>C (p.Lys3144Gln) c.*1361A>C (n.*1361A>C) c.9748A>C (p.Lys3250Gln) c.2215A>C (p.Lys739Gln) n.1926A>C c.9799A>C (p.Lys3267Gln) c.9807A>C (n.9807A>C) n.387A>C c.9703A>C (p.Lys3235Gln) | |
| 13 | g.32398312A>G | CA387766051 | BRCA2 | c.*322A>G (n.*322A>G) c.*1166A>G (n.*1166A>G) c.9430A>G (p.Lys3144Glu) c.*1361A>G (n.*1361A>G) c.9748A>G (p.Lys3250Glu) c.2215A>G (p.Lys739Glu) n.1926A>G c.9799A>G (p.Lys3267Glu) c.9807A>G (n.9807A>G) n.387A>G c.9703A>G (p.Lys3235Glu) | dbSNP |