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.32398189del | CA026265 | BRCA2 | c.*199del (n.*199del) c.*1043del (n.*1043del) c.9307del (p.Tyr3103IlefsTer23) c.*1238del (n.*1238del) c.9625del (p.Tyr3209IlefsTer23) c.2092del (p.Tyr698IlefsTer23) n.1803del c.9676del (p.Tyr3226IlefsTer23) c.9684del (n.9684del) c.2554del c.759del n.264del c.9580del (p.Tyr3194IlefsTer23) | ClinVar dbSNP |
| 13 | g.32398189T>A | CA387765219 | BRCA2 | c.*199T>A (n.*199T>A) c.*1043T>A (n.*1043T>A) c.9307T>A (p.Tyr3103Asn) c.*1238T>A (n.*1238T>A) c.9625T>A (p.Tyr3209Asn) c.2092T>A (p.Tyr698Asn) n.1803T>A c.9676T>A (p.Tyr3226Asn) c.9684T>A (n.9684T>A) c.2554T>A c.759T>A n.264T>A c.9580T>A (p.Tyr3194Asn) | |
| 13 | g.32398189T>C | CA6941438 | BRCA2 | c.*199T>C (n.*199T>C) c.*1043T>C (n.*1043T>C) c.9307T>C (p.Tyr3103His) c.*1238T>C (n.*1238T>C) c.9625T>C (p.Tyr3209His) c.2092T>C (p.Tyr698His) n.1803T>C c.9676T>C (p.Tyr3226His) c.9684T>C (n.9684T>C) c.2554T>C c.759T>C n.264T>C c.9580T>C (p.Tyr3194His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32398189T>G | CA387765221 | BRCA2 | c.*199T>G (n.*199T>G) c.*1043T>G (n.*1043T>G) c.9307T>G (p.Tyr3103Asp) c.*1238T>G (n.*1238T>G) c.9625T>G (p.Tyr3209Asp) c.2092T>G (p.Tyr698Asp) n.1803T>G c.9676T>G (p.Tyr3226Asp) c.9684T>G (n.9684T>G) c.2554T>G c.759T>G n.264T>G c.9580T>G (p.Tyr3194Asp) | |
| 13 | g.32398189T= | CA2082834068 | BRCA2 | c.*199T= (n.*199T=) c.*1043T= (n.*1043T=) c.9307T= (p.Tyr3103=) c.*1238T= (n.*1238T=) c.9625T= (p.Tyr3209=) c.2092T= (p.Tyr698=) n.1803T= c.9676T= (p.Tyr3226=) c.9684T= (n.9684T=) c.2554T= c.759T= n.264T= c.9580T= (p.Tyr3194=) | |
| 13 | g.32398190A= | CA2082834074 | BRCA2 | c.*200A= (n.*200A=) c.*1044A= (n.*1044A=) c.9308A= (p.Tyr3103=) c.*1239A= (n.*1239A=) c.9626A= (p.Tyr3209=) c.2093A= (p.Tyr698=) n.1804A= c.9677A= (p.Tyr3226=) c.9685A= (n.9685A=) c.2555A= c.760A= n.265A= c.9581A= (p.Tyr3194=) | |
| 13 | g.32398190A>C | CA387765223 | BRCA2 | c.*200A>C (n.*200A>C) c.*1044A>C (n.*1044A>C) c.9308A>C (p.Tyr3103Ser) c.*1239A>C (n.*1239A>C) c.9626A>C (p.Tyr3209Ser) c.2093A>C (p.Tyr698Ser) n.1804A>C c.9677A>C (p.Tyr3226Ser) c.9685A>C (n.9685A>C) c.2555A>C c.760A>C n.265A>C c.9581A>C (p.Tyr3194Ser) | |
| 13 | g.32398190A>G | CA026266 | BRCA2 | c.*200A>G (n.*200A>G) c.*1044A>G (n.*1044A>G) c.9308A>G (p.Tyr3103Cys) c.*1239A>G (n.*1239A>G) c.9626A>G (p.Tyr3209Cys) c.2093A>G (p.Tyr698Cys) n.1804A>G c.9677A>G (p.Tyr3226Cys) c.9685A>G (n.9685A>G) c.2555A>G c.760A>G n.265A>G c.9581A>G (p.Tyr3194Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398190A>T | CA387765227 | BRCA2 | c.*200A>T (n.*200A>T) c.*1044A>T (n.*1044A>T) c.9308A>T (p.Tyr3103Phe) c.*1239A>T (n.*1239A>T) c.9626A>T (p.Tyr3209Phe) c.2093A>T (p.Tyr698Phe) n.1804A>T c.9677A>T (p.Tyr3226Phe) c.9685A>T (n.9685A>T) c.2555A>T c.760A>T n.265A>T c.9581A>T (p.Tyr3194Phe) | dbSNP |
| 13 | g.32398191T>A | CA387765230 | BRCA2 | c.*201T>A (n.*201T>A) c.*1045T>A (n.*1045T>A) c.9309T>A (p.Tyr3103Ter) c.*1240T>A (n.*1240T>A) c.9627T>A (p.Tyr3209Ter) c.2094T>A (p.Tyr698Ter) n.1805T>A c.9678T>A (p.Tyr3226Ter) c.9686T>A (n.9686T>A) c.2556T>A c.761T>A n.266T>A c.9582T>A (p.Tyr3194Ter) | ClinVar dbSNP |
| 13 | g.32398191T>C | CA483439914 | BRCA2 | c.*201T>C (n.*201T>C) c.*1045T>C (n.*1045T>C) c.9309T>C (p.Tyr3103=) c.*1240T>C (n.*1240T>C) c.9627T>C (p.Tyr3209=) c.2094T>C (p.Tyr698=) n.1805T>C c.9678T>C (p.Tyr3226=) c.9686T>C (n.9686T>C) c.2556T>C c.761T>C n.266T>C c.9582T>C (p.Tyr3194=) | ClinVar dbSNP |
| 13 | g.32398191T>G | CA387765232 | BRCA2 | c.*201T>G (n.*201T>G) c.*1045T>G (n.*1045T>G) c.9309T>G (p.Tyr3103Ter) c.*1240T>G (n.*1240T>G) c.9627T>G (p.Tyr3209Ter) c.2094T>G (p.Tyr698Ter) n.1805T>G c.9678T>G (p.Tyr3226Ter) c.9686T>G (n.9686T>G) c.2556T>G c.761T>G n.266T>G c.9582T>G (p.Tyr3194Ter) | |
| 13 | g.32398191T= | CA2082834080 | BRCA2 | c.*201T= (n.*201T=) c.*1045T= (n.*1045T=) c.9309T= (p.Tyr3103=) c.*1240T= (n.*1240T=) c.9627T= (p.Tyr3209=) c.2094T= (p.Tyr698=) n.1805T= c.9678T= (p.Tyr3226=) c.9686T= (n.9686T=) c.2556T= c.761T= n.266T= c.9582T= (p.Tyr3194=) | |
| 13 | g.32398192C>A | CA387765234 | BRCA2 | c.*202C>A (n.*202C>A) c.*1046C>A (n.*1046C>A) c.9310C>A (p.Gln3104Lys) c.*1241C>A (n.*1241C>A) c.9628C>A (p.Gln3210Lys) c.2095C>A (p.Gln699Lys) n.1806C>A c.9679C>A (p.Gln3227Lys) c.9687C>A (n.9687C>A) c.2557C>A c.762C>A n.267C>A c.9583C>A (p.Gln3195Lys) | COSMIC COSMIC |
| 13 | g.32398192C= | CA2082834101 | BRCA2 | c.*202C= (n.*202C=) c.*1046C= (n.*1046C=) c.9310C= (p.Gln3104=) c.*1241C= (n.*1241C=) c.9628C= (p.Gln3210=) c.2095C= (p.Gln699=) n.1806C= c.9679C= (p.Gln3227=) c.9687C= (n.9687C=) c.2557C= c.762C= n.267C= c.9583C= (p.Gln3195=) | |
| 13 | g.32398192C>G | CA387765238 | BRCA2 | c.*202C>G (n.*202C>G) c.*1046C>G (n.*1046C>G) c.9310C>G (p.Gln3104Glu) c.*1241C>G (n.*1241C>G) c.9628C>G (p.Gln3210Glu) c.2095C>G (p.Gln699Glu) n.1806C>G c.9679C>G (p.Gln3227Glu) c.9687C>G (n.9687C>G) c.2557C>G c.762C>G n.267C>G c.9583C>G (p.Gln3195Glu) | ClinVar dbSNP |
| 13 | g.32398192C>T | CA387765240 | BRCA2 | c.*202C>T (n.*202C>T) c.*1046C>T (n.*1046C>T) c.9310C>T (p.Gln3104Ter) c.*1241C>T (n.*1241C>T) c.9628C>T (p.Gln3210Ter) c.2095C>T (p.Gln699Ter) n.1806C>T c.9679C>T (p.Gln3227Ter) c.9687C>T (n.9687C>T) c.2557C>T c.762C>T n.267C>T c.9583C>T (p.Gln3195Ter) | |
| 13 | g.32398192_32398193delinsCA | CA2082834086 | BRCA2 | c.*202_*203delinsCA (n.*202_*203delinsCA) c.*1046_*1047delinsCA (n.*1046_*1047delinsCA) c.9310_9311delinsCA (p.Gln3104=) c.*1241_*1242delinsCA (n.*1241_*1242delinsCA) c.9628_9629delinsCA (p.Gln3210=) c.2095_2096delinsCA (p.Gln699=) n.1806_1807delinsCA c.9679_9680delinsCA (p.Gln3227=) c.9687_9688delinsCA (n.9687_9688delinsCA) c.2557_2558delinsCA c.762_763delinsCA n.267_268delinsCA c.9583_9584delinsCA (p.Gln3195=) | |
| 13 | g.32398193A>C | CA387765243 | BRCA2 | c.*203A>C (n.*203A>C) c.*1047A>C (n.*1047A>C) c.9311A>C (p.Gln3104Pro) c.*1242A>C (n.*1242A>C) c.9629A>C (p.Gln3210Pro) c.2096A>C (p.Gln699Pro) n.1807A>C c.9680A>C (p.Gln3227Pro) c.9688A>C (n.9688A>C) c.2558A>C c.763A>C n.268A>C c.9584A>C (p.Gln3195Pro) | |
| 13 | g.32398193A>G | CA387765246 | BRCA2 | c.*203A>G (n.*203A>G) c.*1047A>G (n.*1047A>G) c.9311A>G (p.Gln3104Arg) c.*1242A>G (n.*1242A>G) c.9629A>G (p.Gln3210Arg) c.2096A>G (p.Gln699Arg) n.1807A>G c.9680A>G (p.Gln3227Arg) c.9688A>G (n.9688A>G) c.2558A>G c.763A>G n.268A>G c.9584A>G (p.Gln3195Arg) | dbSNP |
| 13 | g.32398193A>T | CA387765248 | BRCA2 | c.*203A>T (n.*203A>T) c.*1047A>T (n.*1047A>T) c.9311A>T (p.Gln3104Leu) c.*1242A>T (n.*1242A>T) c.9629A>T (p.Gln3210Leu) c.2096A>T (p.Gln699Leu) n.1807A>T c.9680A>T (p.Gln3227Leu) c.9688A>T (n.9688A>T) c.2558A>T c.763A>T n.268A>T c.9584A>T (p.Gln3195Leu) | |
| 13 | g.32398195del | CA026267 | BRCA2 | c.*205del (n.*205del) c.*1049del (n.*1049del) c.9313del (p.Ser3105ValfsTer21) c.*1244del (n.*1244del) c.9631del (p.Ser3211ValfsTer21) c.2098del (p.Ser700ValfsTer21) n.1809del c.9682del (p.Ser3228ValfsTer21) c.9690del (n.9690del) c.2560del c.765del n.270del c.9586del (p.Ser3196ValfsTer21) | ClinVar dbSNP gnomAD v2 |
| 13 | g.32398194A= | CA2082834118 | BRCA2 | c.*204A= (n.*204A=) c.*1048A= (n.*1048A=) c.9312A= (p.Gln3104=) c.*1243A= (n.*1243A=) c.9630A= (p.Gln3210=) c.2097A= (p.Gln699=) n.1808A= c.9681A= (p.Gln3227=) c.9689A= (n.9689A=) c.2559A= c.764A= n.269A= c.9585A= (p.Gln3195=) | |
| 13 | g.32398194A>C | CA387765251 | BRCA2 | c.*204A>C (n.*204A>C) c.*1048A>C (n.*1048A>C) c.9312A>C (p.Gln3104His) c.*1243A>C (n.*1243A>C) c.9630A>C (p.Gln3210His) c.2097A>C (p.Gln699His) n.1808A>C c.9681A>C (p.Gln3227His) c.9689A>C (n.9689A>C) c.2559A>C c.764A>C n.269A>C c.9585A>C (p.Gln3195His) | |
| 13 | g.32398194A>G | CA16613980 | BRCA2 | c.*204A>G (n.*204A>G) c.*1048A>G (n.*1048A>G) c.9312A>G (p.Gln3104=) c.*1243A>G (n.*1243A>G) c.9630A>G (p.Gln3210=) c.2097A>G (p.Gln699=) n.1808A>G c.9681A>G (p.Gln3227=) c.9689A>G (n.9689A>G) c.2559A>G c.764A>G n.269A>G c.9585A>G (p.Gln3195=) | ClinVar dbSNP |
| 13 | g.32398194A>T | CA387765253 | BRCA2 | c.*204A>T (n.*204A>T) c.*1048A>T (n.*1048A>T) c.9312A>T (p.Gln3104His) c.*1243A>T (n.*1243A>T) c.9630A>T (p.Gln3210His) c.2097A>T (p.Gln699His) n.1808A>T c.9681A>T (p.Gln3227His) c.9689A>T (n.9689A>T) c.2559A>T c.764A>T n.269A>T c.9585A>T (p.Gln3195His) | dbSNP |
| 13 | g.32398195A>C | CA387765256 | BRCA2 | c.*205A>C (n.*205A>C) c.*1049A>C (n.*1049A>C) c.9313A>C (p.Ser3105Arg) c.*1244A>C (n.*1244A>C) c.9631A>C (p.Ser3211Arg) c.2098A>C (p.Ser700Arg) n.1809A>C c.9682A>C (p.Ser3228Arg) c.9690A>C (n.9690A>C) c.2560A>C c.765A>C n.270A>C c.9586A>C (p.Ser3196Arg) | |
| 13 | g.32398195A>G | CA387765260 | BRCA2 | c.*205A>G (n.*205A>G) c.*1049A>G (n.*1049A>G) c.9313A>G (p.Ser3105Gly) c.*1244A>G (n.*1244A>G) c.9631A>G (p.Ser3211Gly) c.2098A>G (p.Ser700Gly) n.1809A>G c.9682A>G (p.Ser3228Gly) c.9690A>G (n.9690A>G) c.2560A>G c.765A>G n.270A>G c.9586A>G (p.Ser3196Gly) | dbSNP |
| 13 | g.32398195A>T | CA387765258 | BRCA2 | c.*205A>T (n.*205A>T) c.*1049A>T (n.*1049A>T) c.9313A>T (p.Ser3105Cys) c.*1244A>T (n.*1244A>T) c.9631A>T (p.Ser3211Cys) c.2098A>T (p.Ser700Cys) n.1809A>T c.9682A>T (p.Ser3228Cys) c.9690A>T (n.9690A>T) c.2560A>T c.765A>T n.270A>T c.9586A>T (p.Ser3196Cys) | dbSNP |
| 13 | g.32398196G>A | CA387765262 | BRCA2 | c.*206G>A (n.*206G>A) c.*1050G>A (n.*1050G>A) c.9314G>A (p.Ser3105Asn) c.*1245G>A (n.*1245G>A) c.9632G>A (p.Ser3211Asn) c.2099G>A (p.Ser700Asn) n.1810G>A c.9683G>A (p.Ser3228Asn) c.9691G>A (n.9691G>A) c.2561G>A c.766G>A n.271G>A c.9587G>A (p.Ser3196Asn) | dbSNP |
| 13 | g.32398196G>C | CA387765264 | BRCA2 | c.*206G>C (n.*206G>C) c.*1050G>C (n.*1050G>C) c.9314G>C (p.Ser3105Thr) c.*1245G>C (n.*1245G>C) c.9632G>C (p.Ser3211Thr) c.2099G>C (p.Ser700Thr) n.1810G>C c.9683G>C (p.Ser3228Thr) c.9691G>C (n.9691G>C) c.2561G>C c.766G>C n.271G>C c.9587G>C (p.Ser3196Thr) | dbSNP |
| 13 | g.32398196G>T | CA387765266 | BRCA2 | c.*206G>T (n.*206G>T) c.*1050G>T (n.*1050G>T) c.9314G>T (p.Ser3105Ile) c.*1245G>T (n.*1245G>T) c.9632G>T (p.Ser3211Ile) c.2099G>T (p.Ser700Ile) n.1810G>T c.9683G>T (p.Ser3228Ile) c.9691G>T (n.9691G>T) c.2561G>T c.766G>T n.271G>T c.9587G>T (p.Ser3196Ile) | dbSNP |
| 13 | g.32398197T>A | CA387765269 | BRCA2 | c.*207T>A (n.*207T>A) c.*1051T>A (n.*1051T>A) c.9315T>A (p.Ser3105Arg) c.*1246T>A (n.*1246T>A) c.9633T>A (p.Ser3211Arg) c.2100T>A (p.Ser700Arg) n.1811T>A c.9684T>A (p.Ser3228Arg) c.9692T>A (n.9692T>A) c.2562T>A c.767T>A n.272T>A c.9588T>A (p.Ser3196Arg) | dbSNP gnomAD v4 |
| 13 | g.32398197T>C | CA483439915 | BRCA2 | c.*207T>C (n.*207T>C) c.*1051T>C (n.*1051T>C) c.9315T>C (p.Ser3105=) c.*1246T>C (n.*1246T>C) c.9633T>C (p.Ser3211=) c.2100T>C (p.Ser700=) n.1811T>C c.9684T>C (p.Ser3228=) c.9692T>C (n.9692T>C) c.2562T>C c.767T>C n.272T>C c.9588T>C (p.Ser3196=) | ClinVar dbSNP |
| 13 | g.32398197T>G | CA387765271 | BRCA2 | c.*207T>G (n.*207T>G) c.*1051T>G (n.*1051T>G) c.9315T>G (p.Ser3105Arg) c.*1246T>G (n.*1246T>G) c.9633T>G (p.Ser3211Arg) c.2100T>G (p.Ser700Arg) n.1811T>G c.9684T>G (p.Ser3228Arg) c.9692T>G (n.9692T>G) c.2562T>G c.767T>G n.272T>G c.9588T>G (p.Ser3196Arg) | |
| 13 | g.32398198C>A | CA387765274 | BRCA2 | c.*208C>A (n.*208C>A) c.*1052C>A (n.*1052C>A) c.9316C>A (p.Pro3106Thr) c.*1247C>A (n.*1247C>A) c.9634C>A (p.Pro3212Thr) c.2101C>A (p.Pro701Thr) n.1812C>A c.9685C>A (p.Pro3229Thr) c.9693C>A (n.9693C>A) c.2563C>A c.768C>A n.273C>A c.9589C>A (p.Pro3197Thr) | dbSNP |
| 13 | g.32398198C= | CA2082834122 | BRCA2 | c.*208C= (n.*208C=) c.*1052C= (n.*1052C=) c.9316C= (p.Pro3106=) c.*1247C= (n.*1247C=) c.9634C= (p.Pro3212=) c.2101C= (p.Pro701=) n.1812C= c.9685C= (p.Pro3229=) c.9693C= (n.9693C=) c.2563C= c.768C= n.273C= c.9589C= (p.Pro3197=) | |
| 13 | g.32398198C>G | CA387765277 | BRCA2 | c.*208C>G (n.*208C>G) c.*1052C>G (n.*1052C>G) c.9316C>G (p.Pro3106Ala) c.*1247C>G (n.*1247C>G) c.9634C>G (p.Pro3212Ala) c.2101C>G (p.Pro701Ala) n.1812C>G c.9685C>G (p.Pro3229Ala) c.9693C>G (n.9693C>G) c.2563C>G c.768C>G n.273C>G c.9589C>G (p.Pro3197Ala) | dbSNP |
| 13 | g.32398198C>T | CA16619796 | BRCA2 | c.*208C>T (n.*208C>T) c.*1052C>T (n.*1052C>T) c.9316C>T (p.Pro3106Ser) c.*1247C>T (n.*1247C>T) c.9634C>T (p.Pro3212Ser) c.2101C>T (p.Pro701Ser) n.1812C>T c.9685C>T (p.Pro3229Ser) c.9693C>T (n.9693C>T) c.2563C>T c.768C>T n.273C>T c.9589C>T (p.Pro3197Ser) | ClinVar dbSNP |
| 13 | g.32398199C>A | CA387765280 | BRCA2 | c.*209C>A (n.*209C>A) c.*1053C>A (n.*1053C>A) c.9317C>A (p.Pro3106His) c.*1248C>A (n.*1248C>A) c.9635C>A (p.Pro3212His) c.2102C>A (p.Pro701His) n.1813C>A c.9686C>A (p.Pro3229His) c.9694C>A (n.9694C>A) c.2564C>A c.769C>A n.274C>A c.9590C>A (p.Pro3197His) | ClinVar dbSNP |
| 13 | g.32398199C= | CA2082834134 | BRCA2 | c.*209C= (n.*209C=) c.*1053C= (n.*1053C=) c.9317C= (p.Pro3106=) c.*1248C= (n.*1248C=) c.9635C= (p.Pro3212=) c.2102C= (p.Pro701=) n.1813C= c.9686C= (p.Pro3229=) c.9694C= (n.9694C=) c.2564C= c.769C= n.274C= c.9590C= (p.Pro3197=) | |
| 13 | g.32398199C>G | CA387765284 | BRCA2 | c.*209C>G (n.*209C>G) c.*1053C>G (n.*1053C>G) c.9317C>G (p.Pro3106Arg) c.*1248C>G (n.*1248C>G) c.9635C>G (p.Pro3212Arg) c.2102C>G (p.Pro701Arg) n.1813C>G c.9686C>G (p.Pro3229Arg) c.9694C>G (n.9694C>G) c.2564C>G c.769C>G n.274C>G c.9590C>G (p.Pro3197Arg) | dbSNP |
| 13 | g.32398199C>T | CA10583154 | BRCA2 | c.*209C>T (n.*209C>T) c.*1053C>T (n.*1053C>T) c.9317C>T (p.Pro3106Leu) c.*1248C>T (n.*1248C>T) c.9635C>T (p.Pro3212Leu) c.2102C>T (p.Pro701Leu) n.1813C>T c.9686C>T (p.Pro3229Leu) c.9694C>T (n.9694C>T) c.2564C>T c.769C>T n.274C>T c.9590C>T (p.Pro3197Leu) | ClinVar dbSNP |
| 13 | g.32398199_32398200delinsCT | CA2082834135 | BRCA2 | c.*209_*210delinsCT (n.*209_*210delinsCT) c.*1053_*1054delinsCT (n.*1053_*1054delinsCT) c.9317_9318delinsCT (p.Pro3106=) c.*1248_*1249delinsCT (n.*1248_*1249delinsCT) c.9635_9636delinsCT (p.Pro3212=) c.2102_2103delinsCT (p.Pro701=) n.1813_1814delinsCT c.9686_9687delinsCT (p.Pro3229=) c.9694_9695delinsCT (n.9694_9695delinsCT) c.2564_2565delinsCT c.769_770delinsCT n.274_275delinsCT c.9590_9591delinsCT (p.Pro3197=) | |
| 13 | g.32398200T>A | CA16606708 | BRCA2 | c.*210T>A (n.*210T>A) c.*1054T>A (n.*1054T>A) c.9318T>A (p.Pro3106=) c.*1249T>A (n.*1249T>A) c.9636T>A (p.Pro3212=) c.2103T>A (p.Pro701=) n.1814T>A c.9687T>A (p.Pro3229=) c.9695T>A (n.9695T>A) c.2565T>A c.770T>A n.275T>A c.9591T>A (p.Pro3197=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32398200T>C | CA483439916 | BRCA2 | c.*210T>C (n.*210T>C) c.*1054T>C (n.*1054T>C) c.9318T>C (p.Pro3106=) c.*1249T>C (n.*1249T>C) c.9636T>C (p.Pro3212=) c.2103T>C (p.Pro701=) n.1814T>C c.9687T>C (p.Pro3229=) c.9695T>C (n.9695T>C) c.2565T>C c.770T>C n.275T>C c.9591T>C (p.Pro3197=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32398200T>G | CA483439917 | BRCA2 | c.*210T>G (n.*210T>G) c.*1054T>G (n.*1054T>G) c.9318T>G (p.Pro3106=) c.*1249T>G (n.*1249T>G) c.9636T>G (p.Pro3212=) c.2103T>G (p.Pro701=) n.1814T>G c.9687T>G (p.Pro3229=) c.9695T>G (n.9695T>G) c.2565T>G c.770T>G n.275T>G c.9591T>G (p.Pro3197=) |