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.32398396C>A | CA387766735 | BRCA2 | c.*406C>A (n.*406C>A) c.*1250C>A (n.*1250C>A) c.9514C>A (p.Gln3172Lys) c.*1445C>A (n.*1445C>A) c.9832C>A (p.Gln3278Lys) c.2299C>A (p.Gln767Lys) n.2010C>A c.9883C>A (p.Gln3295Lys) c.9891C>A (n.9891C>A) n.471C>A c.9787C>A (p.Gln3263Lys) | dbSNP |
| 13 | g.32398396C= | CA2082835732 | BRCA2 | c.*406C= (n.*406C=) c.*1250C= (n.*1250C=) c.9514C= (p.Gln3172=) c.*1445C= (n.*1445C=) c.9832C= (p.Gln3278=) c.2299C= (p.Gln767=) n.2010C= c.9883C= (p.Gln3295=) c.9891C= (n.9891C=) n.471C= c.9787C= (p.Gln3263=) | |
| 13 | g.32398396C>G | CA387766738 | BRCA2 | c.*406C>G (n.*406C>G) c.*1250C>G (n.*1250C>G) c.9514C>G (p.Gln3172Glu) c.*1445C>G (n.*1445C>G) c.9832C>G (p.Gln3278Glu) c.2299C>G (p.Gln767Glu) n.2010C>G c.9883C>G (p.Gln3295Glu) c.9891C>G (n.9891C>G) n.471C>G c.9787C>G (p.Gln3263Glu) | dbSNP |
| 13 | g.32398396C>T | CA026321 | BRCA2 | c.*406C>T (n.*406C>T) c.*1250C>T (n.*1250C>T) c.9514C>T (p.Gln3172Ter) c.*1445C>T (n.*1445C>T) c.9832C>T (p.Gln3278Ter) c.2299C>T (p.Gln767Ter) n.2010C>T c.9883C>T (p.Gln3295Ter) c.9891C>T (n.9891C>T) n.471C>T c.9787C>T (p.Gln3263Ter) | ClinVar dbSNP |
| 13 | g.32398397A= | CA2082835739 | BRCA2 | c.*407A= (n.*407A=) c.*1251A= (n.*1251A=) c.9515A= (p.Gln3172=) c.*1446A= (n.*1446A=) c.9833A= (p.Gln3278=) c.2300A= (p.Gln767=) n.2011A= c.9884A= (p.Gln3295=) c.9892A= (n.9892A=) n.472A= c.9788A= (p.Gln3263=) | |
| 13 | g.32398397A>C | CA387766742 | BRCA2 | c.*407A>C (n.*407A>C) c.*1251A>C (n.*1251A>C) c.9515A>C (p.Gln3172Pro) c.*1446A>C (n.*1446A>C) c.9833A>C (p.Gln3278Pro) c.2300A>C (p.Gln767Pro) n.2011A>C c.9884A>C (p.Gln3295Pro) c.9892A>C (n.9892A>C) n.472A>C c.9788A>C (p.Gln3263Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32398397A>G | CA387766744 | BRCA2 | c.*407A>G (n.*407A>G) c.*1251A>G (n.*1251A>G) c.9515A>G (p.Gln3172Arg) c.*1446A>G (n.*1446A>G) c.9833A>G (p.Gln3278Arg) c.2300A>G (p.Gln767Arg) n.2011A>G c.9884A>G (p.Gln3295Arg) c.9892A>G (n.9892A>G) n.472A>G c.9788A>G (p.Gln3263Arg) | ClinVar dbSNP |
| 13 | g.32398397A>T | CA387766753 | BRCA2 | c.*407A>T (n.*407A>T) c.*1251A>T (n.*1251A>T) c.9515A>T (p.Gln3172Leu) c.*1446A>T (n.*1446A>T) c.9833A>T (p.Gln3278Leu) c.2300A>T (p.Gln767Leu) n.2011A>T c.9884A>T (p.Gln3295Leu) c.9892A>T (n.9892A>T) n.472A>T c.9788A>T (p.Gln3263Leu) | ClinVar dbSNP |
| 13 | g.32398398G>A | CA483440226 | BRCA2 | c.*408G>A (n.*408G>A) c.*1252G>A (n.*1252G>A) c.9516G>A (p.Gln3172=) c.*1447G>A (n.*1447G>A) c.9834G>A (p.Gln3278=) c.2301G>A (p.Gln767=) n.2012G>A c.9885G>A (p.Gln3295=) c.9893G>A (n.9893G>A) n.473G>A c.9789G>A (p.Gln3263=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398398G>C | CA387766758 | BRCA2 | c.*408G>C (n.*408G>C) c.*1252G>C (n.*1252G>C) c.9516G>C (p.Gln3172His) c.*1447G>C (n.*1447G>C) c.9834G>C (p.Gln3278His) c.2301G>C (p.Gln767His) n.2012G>C c.9885G>C (p.Gln3295His) c.9893G>C (n.9893G>C) n.473G>C c.9789G>C (p.Gln3263His) | dbSNP |
| 13 | g.32398398G= | CA2082835748 | BRCA2 | c.*408G= (n.*408G=) c.*1252G= (n.*1252G=) c.9516G= (p.Gln3172=) c.*1447G= (n.*1447G=) c.9834G= (p.Gln3278=) c.2301G= (p.Gln767=) n.2012G= c.9885G= (p.Gln3295=) c.9893G= (n.9893G=) n.473G= c.9789G= (p.Gln3263=) | |
| 13 | g.32398398G>T | CA387766761 | BRCA2 | c.*408G>T (n.*408G>T) c.*1252G>T (n.*1252G>T) c.9516G>T (p.Gln3172His) c.*1447G>T (n.*1447G>T) c.9834G>T (p.Gln3278His) c.2301G>T (p.Gln767His) n.2012G>T c.9885G>T (p.Gln3295His) c.9893G>T (n.9893G>T) n.473G>T c.9789G>T (p.Gln3263His) | |
| 13 | g.32398398_32398399delinsGA | CA2082835751 | BRCA2 | c.*408_*409delinsGA (n.*408_*409delinsGA) c.*1252_*1253delinsGA (n.*1252_*1253delinsGA) c.9516_9517delinsGA (p.Gln3172=) c.*1447_*1448delinsGA (n.*1447_*1448delinsGA) c.9834_9835delinsGA (p.Gln3278=) c.2301_2302delinsGA (p.Gln767=) n.2012_2013delinsGA c.9885_9886delinsGA (p.Gln3295=) c.9893_9894delinsGA (n.9893_9894delinsGA) n.473_474delinsGA c.9789_9790delinsGA (p.Gln3263=) | |
| 13 | g.32398399A>C | CA387766762 | BRCA2 | c.*409A>C (n.*409A>C) c.*1253A>C (n.*1253A>C) c.9517A>C (p.Lys3173Gln) c.*1448A>C (n.*1448A>C) c.9835A>C (p.Lys3279Gln) c.2302A>C (p.Lys768Gln) n.2013A>C c.9886A>C (p.Lys3296Gln) c.9894A>C (n.9894A>C) n.474A>C c.9790A>C (p.Lys3264Gln) | dbSNP |
| 13 | g.32398399A>G | CA387766763 | BRCA2 | c.*409A>G (n.*409A>G) c.*1253A>G (n.*1253A>G) c.9517A>G (p.Lys3173Glu) c.*1448A>G (n.*1448A>G) c.9835A>G (p.Lys3279Glu) c.2302A>G (p.Lys768Glu) n.2013A>G c.9886A>G (p.Lys3296Glu) c.9894A>G (n.9894A>G) n.474A>G c.9790A>G (p.Lys3264Glu) | dbSNP |
| 13 | g.32398399A>T | CA387766764 | BRCA2 | c.*409A>T (n.*409A>T) c.*1253A>T (n.*1253A>T) c.9517A>T (p.Lys3173Ter) c.*1448A>T (n.*1448A>T) c.9835A>T (p.Lys3279Ter) c.2302A>T (p.Lys768Ter) n.2013A>T c.9886A>T (p.Lys3296Ter) c.9894A>T (n.9894A>T) n.474A>T c.9790A>T (p.Lys3264Ter) | dbSNP |
| 13 | g.32398400del | CA658798107 | BRCA2 | c.*410del (n.*410del) c.*1254del (n.*1254del) c.9518del (p.Lys3173ArgfsTer17) c.*1449del (n.*1449del) c.9836del (p.Lys3279ArgfsTer17) c.2303del (p.Lys768ArgfsTer17) n.2014del c.9887del (p.Lys3296ArgfsTer17) c.9895del (n.9895del) n.475del c.9791del (p.Lys3264ArgfsTer17) | ClinVar dbSNP |
| 13 | g.32398400A>C | CA387766768 | BRCA2 | c.*410A>C (n.*410A>C) c.*1254A>C (n.*1254A>C) c.9518A>C (p.Lys3173Thr) c.*1449A>C (n.*1449A>C) c.9836A>C (p.Lys3279Thr) c.2303A>C (p.Lys768Thr) n.2014A>C c.9887A>C (p.Lys3296Thr) c.9895A>C (n.9895A>C) n.475A>C c.9791A>C (p.Lys3264Thr) | |
| 13 | g.32398400A>G | CA387766769 | BRCA2 | c.*410A>G (n.*410A>G) c.*1254A>G (n.*1254A>G) c.9518A>G (p.Lys3173Arg) c.*1449A>G (n.*1449A>G) c.9836A>G (p.Lys3279Arg) c.2303A>G (p.Lys768Arg) n.2014A>G c.9887A>G (p.Lys3296Arg) c.9895A>G (n.9895A>G) n.475A>G c.9791A>G (p.Lys3264Arg) | |
| 13 | g.32398400A>T | CA387766774 | BRCA2 | c.*410A>T (n.*410A>T) c.*1254A>T (n.*1254A>T) c.9518A>T (p.Lys3173Met) c.*1449A>T (n.*1449A>T) c.9836A>T (p.Lys3279Met) c.2303A>T (p.Lys768Met) n.2014A>T c.9887A>T (p.Lys3296Met) c.9895A>T (n.9895A>T) n.475A>T c.9791A>T (p.Lys3264Met) | dbSNP |
| 13 | g.32398401G>A | CA483440228 | BRCA2 | c.*411G>A (n.*411G>A) c.*1255G>A (n.*1255G>A) c.9519G>A (p.Lys3173=) c.*1450G>A (n.*1450G>A) c.9837G>A (p.Lys3279=) c.2304G>A (p.Lys768=) n.2015G>A c.9888G>A (p.Lys3296=) c.9896G>A (n.9896G>A) n.476G>A c.9792G>A (p.Lys3264=) | ClinVar dbSNP |
| 13 | g.32398401G>C | CA387766783 | BRCA2 | c.*411G>C (n.*411G>C) c.*1255G>C (n.*1255G>C) c.9519G>C (p.Lys3173Asn) c.*1450G>C (n.*1450G>C) c.9837G>C (p.Lys3279Asn) c.2304G>C (p.Lys768Asn) n.2015G>C c.9888G>C (p.Lys3296Asn) c.9896G>C (n.9896G>C) n.476G>C c.9792G>C (p.Lys3264Asn) | |
| 13 | g.32398401G= | CA2082835760 | BRCA2 | c.*411G= (n.*411G=) c.*1255G= (n.*1255G=) c.9519G= (p.Lys3173=) c.*1450G= (n.*1450G=) c.9837G= (p.Lys3279=) c.2304G= (p.Lys768=) n.2015G= c.9888G= (p.Lys3296=) c.9896G= (n.9896G=) n.476G= c.9792G= (p.Lys3264=) | |
| 13 | g.32398401G>T | CA387766777 | BRCA2 | c.*411G>T (n.*411G>T) c.*1255G>T (n.*1255G>T) c.9519G>T (p.Lys3173Asn) c.*1450G>T (n.*1450G>T) c.9837G>T (p.Lys3279Asn) c.2304G>T (p.Lys768Asn) n.2015G>T c.9888G>T (p.Lys3296Asn) c.9896G>T (n.9896G>T) n.476G>T c.9792G>T (p.Lys3264Asn) | |
| 13 | g.32398402G>A | CA387766786 | BRCA2 | c.*412G>A (n.*412G>A) c.*1256G>A (n.*1256G>A) c.9520G>A (p.Ala3174Thr) c.*1451G>A (n.*1451G>A) c.9838G>A (p.Ala3280Thr) c.2305G>A (p.Ala769Thr) n.2016G>A c.9889G>A (p.Ala3297Thr) c.9897G>A (n.9897G>A) n.477G>A c.9793G>A (p.Ala3265Thr) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32398402G>C | CA387766804 | BRCA2 | c.*412G>C (n.*412G>C) c.*1256G>C (n.*1256G>C) c.9520G>C (p.Ala3174Pro) c.*1451G>C (n.*1451G>C) c.9838G>C (p.Ala3280Pro) c.2305G>C (p.Ala769Pro) n.2016G>C c.9889G>C (p.Ala3297Pro) c.9897G>C (n.9897G>C) n.477G>C c.9793G>C (p.Ala3265Pro) | ClinVar dbSNP |
| 13 | g.32398402G= | CA2082835776 | BRCA2 | c.*412G= (n.*412G=) c.*1256G= (n.*1256G=) c.9520G= (p.Ala3174=) c.*1451G= (n.*1451G=) c.9838G= (p.Ala3280=) c.2305G= (p.Ala769=) n.2016G= c.9889G= (p.Ala3297=) c.9897G= (n.9897G=) n.477G= c.9793G= (p.Ala3265=) | |
| 13 | g.32398402G>T | CA387766809 | BRCA2 | c.*412G>T (n.*412G>T) c.*1256G>T (n.*1256G>T) c.9520G>T (p.Ala3174Ser) c.*1451G>T (n.*1451G>T) c.9838G>T (p.Ala3280Ser) c.2305G>T (p.Ala769Ser) n.2016G>T c.9889G>T (p.Ala3297Ser) c.9897G>T (n.9897G>T) n.477G>T c.9793G>T (p.Ala3265Ser) | ClinVar dbSNP |
| 13 | g.32398403C>A | CA387766815 | BRCA2 | c.*413C>A (n.*413C>A) c.*1257C>A (n.*1257C>A) c.9521C>A (p.Ala3174Glu) c.*1452C>A (n.*1452C>A) c.9839C>A (p.Ala3280Glu) c.2306C>A (p.Ala769Glu) n.2017C>A c.9890C>A (p.Ala3297Glu) c.9898C>A (n.9898C>A) n.478C>A c.9794C>A (p.Ala3265Glu) | dbSNP |
| 13 | g.32398403C= | CA2082835786 | BRCA2 | c.*413C= (n.*413C=) c.*1257C= (n.*1257C=) c.9521C= (p.Ala3174=) c.*1452C= (n.*1452C=) c.9839C= (p.Ala3280=) c.2306C= (p.Ala769=) n.2017C= c.9890C= (p.Ala3297=) c.9898C= (n.9898C=) n.478C= c.9794C= (p.Ala3265=) | |
| 13 | g.32398403C>G | CA026322 | BRCA2 | c.*413C>G (n.*413C>G) c.*1257C>G (n.*1257C>G) c.9521C>G (p.Ala3174Gly) c.*1452C>G (n.*1452C>G) c.9839C>G (p.Ala3280Gly) c.2306C>G (p.Ala769Gly) n.2017C>G c.9890C>G (p.Ala3297Gly) c.9898C>G (n.9898C>G) n.478C>G c.9794C>G (p.Ala3265Gly) | ClinVar dbSNP |
| 13 | g.32398403C>T | CA387766823 | BRCA2 | c.*413C>T (n.*413C>T) c.*1257C>T (n.*1257C>T) c.9521C>T (p.Ala3174Val) c.*1452C>T (n.*1452C>T) c.9839C>T (p.Ala3280Val) c.2306C>T (p.Ala769Val) n.2017C>T c.9890C>T (p.Ala3297Val) c.9898C>T (n.9898C>T) n.478C>T c.9794C>T (p.Ala3265Val) | dbSNP |
| 13 | g.32398404A= | CA2082835797 | BRCA2 | c.*414A= (n.*414A=) c.*1258A= (n.*1258A=) c.9522A= (p.Ala3174=) c.*1453A= (n.*1453A=) c.9840A= (p.Ala3280=) c.2307A= (p.Ala769=) n.2018A= c.9891A= (p.Ala3297=) c.9899A= (n.9899A=) n.479A= c.9795A= (p.Ala3265=) | |
| 13 | g.32398404A>C | CA483439967 | BRCA2 | c.*414A>C (n.*414A>C) c.*1258A>C (n.*1258A>C) c.9522A>C (p.Ala3174=) c.*1453A>C (n.*1453A>C) c.9840A>C (p.Ala3280=) c.2307A>C (p.Ala769=) n.2018A>C c.9891A>C (p.Ala3297=) c.9899A>C (n.9899A>C) n.479A>C c.9795A>C (p.Ala3265=) | dbSNP |
| 13 | g.32398404A>G | CA483439970 | BRCA2 | c.*414A>G (n.*414A>G) c.*1258A>G (n.*1258A>G) c.9522A>G (p.Ala3174=) c.*1453A>G (n.*1453A>G) c.9840A>G (p.Ala3280=) c.2307A>G (p.Ala769=) n.2018A>G c.9891A>G (p.Ala3297=) c.9899A>G (n.9899A>G) n.479A>G c.9795A>G (p.Ala3265=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32398404A>T | CA483439969 | BRCA2 | c.*414A>T (n.*414A>T) c.*1258A>T (n.*1258A>T) c.9522A>T (p.Ala3174=) c.*1453A>T (n.*1453A>T) c.9840A>T (p.Ala3280=) c.2307A>T (p.Ala769=) n.2018A>T c.9891A>T (p.Ala3297=) c.9899A>T (n.9899A>T) n.479A>T c.9795A>T (p.Ala3265=) | dbSNP |
| 13 | g.32398404_32398407dup | CA026323 | BRCA2 | c.*414_*417dup (n.*414_*417dup) c.*1258_*1261dup (n.*1258_*1261dup) c.9522_9525dup (p.Gln3176IlefsTer29) c.*1453_*1456dup (n.*1453_*1456dup) c.9840_9843dup (p.Gln3282IlefsTer29) c.2307_2310dup (p.Gln771IlefsTer29) n.2018_2021dup c.9891_9894dup (p.Gln3299IlefsTer29) c.9899_9902dup (n.9899_9902dup) n.479_482dup c.9795_9798dup (p.Gln3267IlefsTer29) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398405T>A | CA387766852 | BRCA2 | c.*415T>A (n.*415T>A) c.*1259T>A (n.*1259T>A) c.9523T>A (p.Phe3175Ile) c.*1454T>A (n.*1454T>A) c.9841T>A (p.Phe3281Ile) c.2308T>A (p.Phe770Ile) n.2019T>A c.9892T>A (p.Phe3298Ile) c.9900T>A (n.9900T>A) n.480T>A c.9796T>A (p.Phe3266Ile) | ClinVar dbSNP |
| 13 | g.32398405T>C | CA387766858 | BRCA2 | c.*415T>C (n.*415T>C) c.*1259T>C (n.*1259T>C) c.9523T>C (p.Phe3175Leu) c.*1454T>C (n.*1454T>C) c.9841T>C (p.Phe3281Leu) c.2308T>C (p.Phe770Leu) n.2019T>C c.9892T>C (p.Phe3298Leu) c.9900T>C (n.9900T>C) n.480T>C c.9796T>C (p.Phe3266Leu) | |
| 13 | g.32398405T>G | CA387766861 | BRCA2 | c.*415T>G (n.*415T>G) c.*1259T>G (n.*1259T>G) c.9523T>G (p.Phe3175Val) c.*1454T>G (n.*1454T>G) c.9841T>G (p.Phe3281Val) c.2308T>G (p.Phe770Val) n.2019T>G c.9892T>G (p.Phe3298Val) c.9900T>G (n.9900T>G) n.480T>G c.9796T>G (p.Phe3266Val) | dbSNP |
| 13 | g.32398405T= | CA2082835804 | BRCA2 | c.*415T= (n.*415T=) c.*1259T= (n.*1259T=) c.9523T= (p.Phe3175=) c.*1454T= (n.*1454T=) c.9841T= (p.Phe3281=) c.2308T= (p.Phe770=) n.2019T= c.9892T= (p.Phe3298=) c.9900T= (n.9900T=) n.480T= c.9796T= (p.Phe3266=) | |
| 13 | g.32398407del | CA1139770777 | BRCA2 | c.*417del (n.*417del) c.*1261del (n.*1261del) c.9525del (p.Gln3176SerfsTer14) c.*1456del (n.*1456del) c.9843del (p.Gln3282SerfsTer14) c.2310del (p.Gln771SerfsTer14) n.2021del c.9894del (p.Gln3299SerfsTer14) c.9902del (n.9902del) n.482del c.9798del (p.Gln3267SerfsTer14) | |
| 13 | g.32398406T>A | CA387766866 | BRCA2 | c.*416T>A (n.*416T>A) c.*1260T>A (n.*1260T>A) c.9524T>A (p.Phe3175Tyr) c.*1455T>A (n.*1455T>A) c.9842T>A (p.Phe3281Tyr) c.2309T>A (p.Phe770Tyr) n.2020T>A c.9893T>A (p.Phe3298Tyr) c.9901T>A (n.9901T>A) n.481T>A c.9797T>A (p.Phe3266Tyr) | dbSNP |
| 13 | g.32398406T>C | CA387766868 | BRCA2 | c.*416T>C (n.*416T>C) c.*1260T>C (n.*1260T>C) c.9524T>C (p.Phe3175Ser) c.*1455T>C (n.*1455T>C) c.9842T>C (p.Phe3281Ser) c.2309T>C (p.Phe770Ser) n.2020T>C c.9893T>C (p.Phe3298Ser) c.9901T>C (n.9901T>C) n.481T>C c.9797T>C (p.Phe3266Ser) | |
| 13 | g.32398406T>G | CA387766865 | BRCA2 | c.*416T>G (n.*416T>G) c.*1260T>G (n.*1260T>G) c.9524T>G (p.Phe3175Cys) c.*1455T>G (n.*1455T>G) c.9842T>G (p.Phe3281Cys) c.2309T>G (p.Phe770Cys) n.2020T>G c.9893T>G (p.Phe3298Cys) c.9901T>G (n.9901T>G) n.481T>G c.9797T>G (p.Phe3266Cys) | |
| 13 | g.32398407T>A | CA387766871 | BRCA2 | c.*417T>A (n.*417T>A) c.*1261T>A (n.*1261T>A) c.9525T>A (p.Phe3175Leu) c.*1456T>A (n.*1456T>A) c.9843T>A (p.Phe3281Leu) c.2310T>A (p.Phe770Leu) n.2021T>A c.9894T>A (p.Phe3298Leu) c.9902T>A (n.9902T>A) n.482T>A c.9798T>A (p.Phe3266Leu) | dbSNP |
| 13 | g.32398407T>C | CA483439972 | BRCA2 | c.*417T>C (n.*417T>C) c.*1261T>C (n.*1261T>C) c.9525T>C (p.Phe3175=) c.*1456T>C (n.*1456T>C) c.9843T>C (p.Phe3281=) c.2310T>C (p.Phe770=) n.2021T>C c.9894T>C (p.Phe3298=) c.9902T>C (n.9902T>C) n.482T>C c.9798T>C (p.Phe3266=) |