| 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.32398356del | CA658761188 | BRCA2 | c.*366del (n.*366del) c.*1210del (n.*1210del) c.9474del (p.Pro3159LeufsTer?) c.*1405del (n.*1405del) c.9792del (p.Pro3265LeufsTer?) c.2259del (p.Pro754LeufsTer?) n.1970del c.9843del (p.Pro3282LeufsTer?) c.9851del (n.9851del) n.431del c.9747del (p.Pro3250LeufsTer?) | |
| 13 | g.32398356A= | CA2082835507 | BRCA2 | c.*366A= (n.*366A=) c.*1210A= (n.*1210A=) c.9474A= (p.Pro3158=) c.*1405A= (n.*1405A=) c.9792A= (p.Pro3264=) c.2259A= (p.Pro753=) n.1970A= c.9843A= (p.Pro3281=) c.9851A= (n.9851A=) n.431A= c.9747A= (p.Pro3249=) | |
| 13 | g.32398356A>C | CA026312 | BRCA2 | c.*366A>C (n.*366A>C) c.*1210A>C (n.*1210A>C) c.9474A>C (p.Pro3158=) c.*1405A>C (n.*1405A>C) c.9792A>C (p.Pro3264=) c.2259A>C (p.Pro753=) n.1970A>C c.9843A>C (p.Pro3281=) c.9851A>C (n.9851A>C) n.431A>C c.9747A>C (p.Pro3249=) | ClinVar dbSNP |
| 13 | g.32398356A>G | CA026313 | BRCA2 | c.*366A>G (n.*366A>G) c.*1210A>G (n.*1210A>G) c.9474A>G (p.Pro3158=) c.*1405A>G (n.*1405A>G) c.9792A>G (p.Pro3264=) c.2259A>G (p.Pro753=) n.1970A>G c.9843A>G (p.Pro3281=) c.9851A>G (n.9851A>G) n.431A>G c.9747A>G (p.Pro3249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398356A>T | CA483440174 | BRCA2 | c.*366A>T (n.*366A>T) c.*1210A>T (n.*1210A>T) c.9474A>T (p.Pro3158=) c.*1405A>T (n.*1405A>T) c.9792A>T (p.Pro3264=) c.2259A>T (p.Pro753=) n.1970A>T c.9843A>T (p.Pro3281=) c.9851A>T (n.9851A>T) n.431A>T c.9747A>T (p.Pro3249=) | dbSNP |
| 13 | g.32398357C>A | CA387766422 | BRCA2 | c.*367C>A (n.*367C>A) c.*1211C>A (n.*1211C>A) c.9475C>A (p.Pro3159Thr) c.*1406C>A (n.*1406C>A) c.9793C>A (p.Pro3265Thr) c.2260C>A (p.Pro754Thr) n.1971C>A c.9844C>A (p.Pro3282Thr) c.9852C>A (n.9852C>A) n.432C>A c.9748C>A (p.Pro3250Thr) | ClinVar dbSNP |
| 13 | g.32398357C= | CA2082835514 | BRCA2 | c.*367C= (n.*367C=) c.*1211C= (n.*1211C=) c.9475C= (p.Pro3159=) c.*1406C= (n.*1406C=) c.9793C= (p.Pro3265=) c.2260C= (p.Pro754=) n.1971C= c.9844C= (p.Pro3282=) c.9852C= (n.9852C=) n.432C= c.9748C= (p.Pro3250=) | |
| 13 | g.32398357C>G | CA387766425 | BRCA2 | c.*367C>G (n.*367C>G) c.*1211C>G (n.*1211C>G) c.9475C>G (p.Pro3159Ala) c.*1406C>G (n.*1406C>G) c.9793C>G (p.Pro3265Ala) c.2260C>G (p.Pro754Ala) n.1971C>G c.9844C>G (p.Pro3282Ala) c.9852C>G (n.9852C>G) n.432C>G c.9748C>G (p.Pro3250Ala) | |
| 13 | g.32398357C>T | CA387766435 | BRCA2 | c.*367C>T (n.*367C>T) c.*1211C>T (n.*1211C>T) c.9475C>T (p.Pro3159Ser) c.*1406C>T (n.*1406C>T) c.9793C>T (p.Pro3265Ser) c.2260C>T (p.Pro754Ser) n.1971C>T c.9844C>T (p.Pro3282Ser) c.9852C>T (n.9852C>T) n.432C>T c.9748C>T (p.Pro3250Ser) | |
| 13 | g.32398358C>A | CA387766439 | BRCA2 | c.*368C>A (n.*368C>A) c.*1212C>A (n.*1212C>A) c.9476C>A (p.Pro3159His) c.*1407C>A (n.*1407C>A) c.9794C>A (p.Pro3265His) c.2261C>A (p.Pro754His) n.1972C>A c.9845C>A (p.Pro3282His) c.9853C>A (n.9853C>A) n.433C>A c.9749C>A (p.Pro3250His) | dbSNP |
| 13 | g.32398358C= | CA2082835517 | BRCA2 | c.*368C= (n.*368C=) c.*1212C= (n.*1212C=) c.9476C= (p.Pro3159=) c.*1407C= (n.*1407C=) c.9794C= (p.Pro3265=) c.2261C= (p.Pro754=) n.1972C= c.9845C= (p.Pro3282=) c.9853C= (n.9853C=) n.433C= c.9749C= (p.Pro3250=) | |
| 13 | g.32398358C>G | CA387766442 | BRCA2 | c.*368C>G (n.*368C>G) c.*1212C>G (n.*1212C>G) c.9476C>G (p.Pro3159Arg) c.*1407C>G (n.*1407C>G) c.9794C>G (p.Pro3265Arg) c.2261C>G (p.Pro754Arg) n.1972C>G c.9845C>G (p.Pro3282Arg) c.9853C>G (n.9853C>G) n.433C>G c.9749C>G (p.Pro3250Arg) | ClinVar dbSNP |
| 13 | g.32398358C>T | CA387766444 | BRCA2 | c.*368C>T (n.*368C>T) c.*1212C>T (n.*1212C>T) c.9476C>T (p.Pro3159Leu) c.*1407C>T (n.*1407C>T) c.9794C>T (p.Pro3265Leu) c.2261C>T (p.Pro754Leu) n.1972C>T c.9845C>T (p.Pro3282Leu) c.9853C>T (n.9853C>T) n.433C>T c.9749C>T (p.Pro3250Leu) | dbSNP COSMIC COSMIC |
| 13 | g.32398358_32398359delinsCT | CA2082835520 | BRCA2 | c.*368_*369delinsCT (n.*368_*369delinsCT) c.*1212_*1213delinsCT (n.*1212_*1213delinsCT) c.9476_9477delinsCT (p.Pro3159=) c.*1407_*1408delinsCT (n.*1407_*1408delinsCT) c.9794_9795delinsCT (p.Pro3265=) c.2261_2262delinsCT (p.Pro754=) n.1972_1973delinsCT c.9845_9846delinsCT (p.Pro3282=) c.9853_9854delinsCT (n.9853_9854delinsCT) n.433_434delinsCT c.9749_9750delinsCT (p.Pro3250=) | |
| 13 | g.32398359del | CA1139663205 | BRCA2 | c.*369del (n.*369del) c.*1213del (n.*1213del) c.9477del (p.Val3160LeufsTer?) c.*1408del (n.*1408del) c.9795del (p.Val3266LeufsTer?) c.2262del (p.Val755LeufsTer?) n.1973del c.9846del (p.Val3283LeufsTer?) c.9854del (n.9854del) n.434del c.9750del (p.Val3251LeufsTer?) | ClinVar dbSNP |
| 13 | g.32398359T>A | CA483440178 | BRCA2 | c.*369T>A (n.*369T>A) c.*1213T>A (n.*1213T>A) c.9477T>A (p.Pro3159=) c.*1408T>A (n.*1408T>A) c.9795T>A (p.Pro3265=) c.2262T>A (p.Pro754=) n.1973T>A c.9846T>A (p.Pro3282=) c.9854T>A (n.9854T>A) n.434T>A c.9750T>A (p.Pro3250=) | dbSNP |
| 13 | g.32398359T>C | CA483440176 | BRCA2 | c.*369T>C (n.*369T>C) c.*1213T>C (n.*1213T>C) c.9477T>C (p.Pro3159=) c.*1408T>C (n.*1408T>C) c.9795T>C (p.Pro3265=) c.2262T>C (p.Pro754=) n.1973T>C c.9846T>C (p.Pro3282=) c.9854T>C (n.9854T>C) n.434T>C c.9750T>C (p.Pro3250=) | ClinVar dbSNP |
| 13 | g.32398359T>G | CA483440177 | BRCA2 | c.*369T>G (n.*369T>G) c.*1213T>G (n.*1213T>G) c.9477T>G (p.Pro3159=) c.*1408T>G (n.*1408T>G) c.9795T>G (p.Pro3265=) c.2262T>G (p.Pro754=) n.1973T>G c.9846T>G (p.Pro3282=) c.9854T>G (n.9854T>G) n.434T>G c.9750T>G (p.Pro3250=) | ClinVar dbSNP |
| 13 | g.32398359dup | CA10589576 | BRCA2 | c.*369dup (n.*369dup) c.*1213dup (n.*1213dup) c.9477dup (p.Val3160CysfsTer2) c.*1408dup (n.*1408dup) c.9795dup (p.Val3266CysfsTer2) c.2262dup (p.Val755CysfsTer2) n.1973dup c.9846dup (p.Val3283CysfsTer2) c.9854dup (n.9854dup) n.434dup c.9750dup (p.Val3251CysfsTer2) | ClinVar dbSNP |
| 13 | g.32398360G>A | CA387766450 | BRCA2 | c.*370G>A (n.*370G>A) c.*1214G>A (n.*1214G>A) c.9478G>A (p.Val3160Ile) c.*1409G>A (n.*1409G>A) c.9796G>A (p.Val3266Ile) c.2263G>A (p.Val755Ile) n.1974G>A c.9847G>A (p.Val3283Ile) c.9855G>A (n.9855G>A) n.435G>A c.9751G>A (p.Val3251Ile) | ClinVar dbSNP |
| 13 | g.32398360G>C | CA387766457 | BRCA2 | c.*370G>C (n.*370G>C) c.*1214G>C (n.*1214G>C) c.9478G>C (p.Val3160Leu) c.*1409G>C (n.*1409G>C) c.9796G>C (p.Val3266Leu) c.2263G>C (p.Val755Leu) n.1974G>C c.9847G>C (p.Val3283Leu) c.9855G>C (n.9855G>C) n.435G>C c.9751G>C (p.Val3251Leu) | |
| 13 | g.32398360G>T | CA387766452 | BRCA2 | c.*370G>T (n.*370G>T) c.*1214G>T (n.*1214G>T) c.9478G>T (p.Val3160Phe) c.*1409G>T (n.*1409G>T) c.9796G>T (p.Val3266Phe) c.2263G>T (p.Val755Phe) n.1974G>T c.9847G>T (p.Val3283Phe) c.9855G>T (n.9855G>T) n.435G>T c.9751G>T (p.Val3251Phe) | |
| 13 | g.32398360_32398377delinsGTTAGTCCCATTTGTACA | CA2082835531 | BRCA2 | c.*370_*387delinsGTTAGTCCCATTTGTACA (n.*370_*387delinsGTTAGTCCCATTTGTACA) c.*1214_*1231delinsGTTAGTCCCATTTGTACA (n.*1214_*1231delinsGTTAGTCCCATTTGTACA) c.9478_9495delinsGTTAGTCCCATTTGTACA (p.Val3160=) c.*1409_*1426delinsGTTAGTCCCATTTGTACA (n.*1409_*1426delinsGTTAGTCCCATTTGTACA) c.9796_9813delinsGTTAGTCCCATTTGTACA (p.Val3266=) c.2263_2280delinsGTTAGTCCCATTTGTACA (p.Val755=) n.1974_1991delinsGTTAGTCCCATTTGTACA c.9847_9864delinsGTTAGTCCCATTTGTACA (p.Val3283=) c.9855_9872delinsGTTAGTCCCATTTGTACA (n.9855_9872delinsGTTAGTCCCATTTGTACA) n.435_452delinsGTTAGTCCCATTTGTACA c.9751_9768delinsGTTAGTCCCATTTGTACA (p.Val3251=) | |
| 13 | g.32398361T>A | CA387766459 | BRCA2 | c.*371T>A (n.*371T>A) c.*1215T>A (n.*1215T>A) c.9479T>A (p.Val3160Asp) c.*1410T>A (n.*1410T>A) c.9797T>A (p.Val3266Asp) c.2264T>A (p.Val755Asp) n.1975T>A c.9848T>A (p.Val3283Asp) c.9856T>A (n.9856T>A) n.436T>A c.9752T>A (p.Val3251Asp) | dbSNP |
| 13 | g.32398361T>C | CA387766463 | BRCA2 | c.*371T>C (n.*371T>C) c.*1215T>C (n.*1215T>C) c.9479T>C (p.Val3160Ala) c.*1410T>C (n.*1410T>C) c.9797T>C (p.Val3266Ala) c.2264T>C (p.Val755Ala) n.1975T>C c.9848T>C (p.Val3283Ala) c.9856T>C (n.9856T>C) n.436T>C c.9752T>C (p.Val3251Ala) | dbSNP |
| 13 | g.32398361T>G | CA387766464 | BRCA2 | c.*371T>G (n.*371T>G) c.*1215T>G (n.*1215T>G) c.9479T>G (p.Val3160Gly) c.*1410T>G (n.*1410T>G) c.9797T>G (p.Val3266Gly) c.2264T>G (p.Val755Gly) n.1975T>G c.9848T>G (p.Val3283Gly) c.9856T>G (n.9856T>G) n.436T>G c.9752T>G (p.Val3251Gly) | dbSNP |
| 13 | g.32398363_32398379del | CA913188614 | BRCA2 | c.*373_*389del (n.*373_*389del) c.*1217_*1233del (n.*1217_*1233del) c.9481_9497del (p.Ser3161CysfsTer?) c.*1412_*1428del (n.*1412_*1428del) c.9799_9815del (p.Ser3267CysfsTer?) c.2266_2282del (p.Ser756CysfsTer?) n.1977_1993del c.9850_9866del (p.Ser3284CysfsTer?) c.9858_9874del (n.9858_9874del) n.438_454del c.9754_9770del (p.Ser3252CysfsTer?) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398362T>A | CA483440183 | BRCA2 | c.*372T>A (n.*372T>A) c.*1216T>A (n.*1216T>A) c.9480T>A (p.Val3160=) c.*1411T>A (n.*1411T>A) c.9798T>A (p.Val3266=) c.2265T>A (p.Val755=) n.1976T>A c.9849T>A (p.Val3283=) c.9857T>A (n.9857T>A) n.437T>A c.9753T>A (p.Val3251=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32398362T>C | CA483440184 | BRCA2 | c.*372T>C (n.*372T>C) c.*1216T>C (n.*1216T>C) c.9480T>C (p.Val3160=) c.*1411T>C (n.*1411T>C) c.9798T>C (p.Val3266=) c.2265T>C (p.Val755=) n.1976T>C c.9849T>C (p.Val3283=) c.9857T>C (n.9857T>C) n.437T>C c.9753T>C (p.Val3251=) | ClinVar |
| 13 | g.32398362T>G | CA483440181 | BRCA2 | c.*372T>G (n.*372T>G) c.*1216T>G (n.*1216T>G) c.9480T>G (p.Val3160=) c.*1411T>G (n.*1411T>G) c.9798T>G (p.Val3266=) c.2265T>G (p.Val755=) n.1976T>G c.9849T>G (p.Val3283=) c.9857T>G (n.9857T>G) n.437T>G c.9753T>G (p.Val3251=) | |
| 13 | g.32398362T= | CA2082835539 | BRCA2 | c.*372T= (n.*372T=) c.*1216T= (n.*1216T=) c.9480T= (p.Val3160=) c.*1411T= (n.*1411T=) c.9798T= (p.Val3266=) c.2265T= (p.Val755=) n.1976T= c.9849T= (p.Val3283=) c.9857T= (n.9857T=) n.437T= c.9753T= (p.Val3251=) | |
| 13 | g.32398363A= | CA2082835542 | BRCA2 | c.*373A= (n.*373A=) c.*1217A= (n.*1217A=) c.9481A= (p.Ser3161=) c.*1412A= (n.*1412A=) c.9799A= (p.Ser3267=) c.2266A= (p.Ser756=) n.1977A= c.9850A= (p.Ser3284=) c.9858A= (n.9858A=) n.438A= c.9754A= (p.Ser3252=) | |
| 13 | g.32398363A>C | CA387766466 | BRCA2 | c.*373A>C (n.*373A>C) c.*1217A>C (n.*1217A>C) c.9481A>C (p.Ser3161Arg) c.*1412A>C (n.*1412A>C) c.9799A>C (p.Ser3267Arg) c.2266A>C (p.Ser756Arg) n.1977A>C c.9850A>C (p.Ser3284Arg) c.9858A>C (n.9858A>C) n.438A>C c.9754A>C (p.Ser3252Arg) | |
| 13 | g.32398363A>G | CA387766470 | BRCA2 | c.*373A>G (n.*373A>G) c.*1217A>G (n.*1217A>G) c.9481A>G (p.Ser3161Gly) c.*1412A>G (n.*1412A>G) c.9799A>G (p.Ser3267Gly) c.2266A>G (p.Ser756Gly) n.1977A>G c.9850A>G (p.Ser3284Gly) c.9858A>G (n.9858A>G) n.438A>G c.9754A>G (p.Ser3252Gly) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398363A>T | CA387766473 | BRCA2 | c.*373A>T (n.*373A>T) c.*1217A>T (n.*1217A>T) c.9481A>T (p.Ser3161Cys) c.*1412A>T (n.*1412A>T) c.9799A>T (p.Ser3267Cys) c.2266A>T (p.Ser756Cys) n.1977A>T c.9850A>T (p.Ser3284Cys) c.9858A>T (n.9858A>T) n.438A>T c.9754A>T (p.Ser3252Cys) | dbSNP |
| 13 | g.32398364G>A | CA387766476 | BRCA2 | c.*374G>A (n.*374G>A) c.*1218G>A (n.*1218G>A) c.9482G>A (p.Ser3161Asn) c.*1413G>A (n.*1413G>A) c.9800G>A (p.Ser3267Asn) c.2267G>A (p.Ser756Asn) n.1978G>A c.9851G>A (p.Ser3284Asn) c.9859G>A (n.9859G>A) n.439G>A c.9755G>A (p.Ser3252Asn) | dbSNP |
| 13 | g.32398364G>C | CA387766478 | BRCA2 | c.*374G>C (n.*374G>C) c.*1218G>C (n.*1218G>C) c.9482G>C (p.Ser3161Thr) c.*1413G>C (n.*1413G>C) c.9800G>C (p.Ser3267Thr) c.2267G>C (p.Ser756Thr) n.1978G>C c.9851G>C (p.Ser3284Thr) c.9859G>C (n.9859G>C) n.439G>C c.9755G>C (p.Ser3252Thr) | dbSNP |
| 13 | g.32398364G>T | CA387766482 | BRCA2 | c.*374G>T (n.*374G>T) c.*1218G>T (n.*1218G>T) c.9482G>T (p.Ser3161Ile) c.*1413G>T (n.*1413G>T) c.9800G>T (p.Ser3267Ile) c.2267G>T (p.Ser756Ile) n.1978G>T c.9851G>T (p.Ser3284Ile) c.9859G>T (n.9859G>T) n.439G>T c.9755G>T (p.Ser3252Ile) | ClinVar dbSNP |
| 13 | g.32398365T>A | CA387766501 | BRCA2 | c.*375T>A (n.*375T>A) c.*1219T>A (n.*1219T>A) c.9483T>A (p.Ser3161Arg) c.*1414T>A (n.*1414T>A) c.9801T>A (p.Ser3267Arg) c.2268T>A (p.Ser756Arg) n.1979T>A c.9852T>A (p.Ser3284Arg) c.9860T>A (n.9860T>A) n.440T>A c.9756T>A (p.Ser3252Arg) | |
| 13 | g.32398365T>C | CA483440188 | BRCA2 | c.*375T>C (n.*375T>C) c.*1219T>C (n.*1219T>C) c.9483T>C (p.Ser3161=) c.*1414T>C (n.*1414T>C) c.9801T>C (p.Ser3267=) c.2268T>C (p.Ser756=) n.1979T>C c.9852T>C (p.Ser3284=) c.9860T>C (n.9860T>C) n.440T>C c.9756T>C (p.Ser3252=) | |
| 13 | g.32398365T>G | CA387766503 | BRCA2 | c.*375T>G (n.*375T>G) c.*1219T>G (n.*1219T>G) c.9483T>G (p.Ser3161Arg) c.*1414T>G (n.*1414T>G) c.9801T>G (p.Ser3267Arg) c.2268T>G (p.Ser756Arg) n.1979T>G c.9852T>G (p.Ser3284Arg) c.9860T>G (n.9860T>G) n.440T>G c.9756T>G (p.Ser3252Arg) | |
| 13 | g.32398365_32398366delinsTC | CA2082835548 | BRCA2 | c.*375_*376delinsTC (n.*375_*376delinsTC) c.*1219_*1220delinsTC (n.*1219_*1220delinsTC) c.9483_9484delinsTC (p.Ser3161=) c.*1414_*1415delinsTC (n.*1414_*1415delinsTC) c.9801_9802delinsTC (p.Ser3267=) c.2268_2269delinsTC (p.Ser756=) n.1979_1980delinsTC c.9852_9853delinsTC (p.Ser3284=) c.9860_9861delinsTC (n.9860_9861delinsTC) n.440_441delinsTC c.9756_9757delinsTC (p.Ser3252=) | |
| 13 | g.32398366C>A | CA026314 | BRCA2 | c.*376C>A (n.*376C>A) c.*1220C>A (n.*1220C>A) c.9484C>A (p.Pro3162Thr) c.*1415C>A (n.*1415C>A) c.9802C>A (p.Pro3268Thr) c.2269C>A (p.Pro757Thr) n.1980C>A c.9853C>A (p.Pro3285Thr) c.9861C>A (n.9861C>A) n.441C>A c.9757C>A (p.Pro3253Thr) | ClinVar dbSNP |
| 13 | g.32398366C= | CA2082835565 | BRCA2 | c.*376C= (n.*376C=) c.*1220C= (n.*1220C=) c.9484C= (p.Pro3162=) c.*1415C= (n.*1415C=) c.9802C= (p.Pro3268=) c.2269C= (p.Pro757=) n.1980C= c.9853C= (p.Pro3285=) c.9861C= (n.9861C=) n.441C= c.9757C= (p.Pro3253=) | |
| 13 | g.32398366C>G | CA387766511 | BRCA2 | c.*376C>G (n.*376C>G) c.*1220C>G (n.*1220C>G) c.9484C>G (p.Pro3162Ala) c.*1415C>G (n.*1415C>G) c.9802C>G (p.Pro3268Ala) c.2269C>G (p.Pro757Ala) n.1980C>G c.9853C>G (p.Pro3285Ala) c.9861C>G (n.9861C>G) n.441C>G c.9757C>G (p.Pro3253Ala) | ClinVar dbSNP |
| 13 | g.32398366C>T | CA387766507 | BRCA2 | c.*376C>T (n.*376C>T) c.*1220C>T (n.*1220C>T) c.9484C>T (p.Pro3162Ser) c.*1415C>T (n.*1415C>T) c.9802C>T (p.Pro3268Ser) c.2269C>T (p.Pro757Ser) n.1980C>T c.9853C>T (p.Pro3285Ser) c.9861C>T (n.9861C>T) n.441C>T c.9757C>T (p.Pro3253Ser) | ClinVar dbSNP |
| 13 | g.32398368del | CA1139663206 | BRCA2 | c.*378del (n.*378del) c.*1222del (n.*1222del) c.9486del (p.Ile3163PhefsTer27) c.*1417del (n.*1417del) c.9804del (p.Ile3269PhefsTer27) c.2271del (p.Ile758PhefsTer27) n.1982del c.9855del (p.Ile3286PhefsTer27) c.9863del (n.9863del) n.443del c.9759del (p.Ile3254PhefsTer27) | ClinVar dbSNP |