WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.32398259C>A | CA387765645 | BRCA2 | c.*269C>A (n.*269C>A) c.*1113C>A (n.*1113C>A) c.9377C>A (p.Thr3126Asn) c.*1308C>A (n.*1308C>A) c.9695C>A (p.Thr3232Asn) c.2162C>A (p.Thr721Asn) n.1873C>A c.9746C>A (p.Thr3249Asn) c.9754C>A (n.9754C>A) c.829C>A n.334C>A c.9650C>A (p.Thr3217Asn) | dbSNP |
| 13 | g.32398259C= | CA2082834785 | BRCA2 | c.*269C= (n.*269C=) c.*1113C= (n.*1113C=) c.9377C= (p.Thr3126=) c.*1308C= (n.*1308C=) c.9695C= (p.Thr3232=) c.2162C= (p.Thr721=) n.1873C= c.9746C= (p.Thr3249=) c.9754C= (n.9754C=) c.829C= n.334C= c.9650C= (p.Thr3217=) | |
| 13 | g.32398259C>G | CA387765646 | BRCA2 | c.*269C>G (n.*269C>G) c.*1113C>G (n.*1113C>G) c.9377C>G (p.Thr3126Ser) c.*1308C>G (n.*1308C>G) c.9695C>G (p.Thr3232Ser) c.2162C>G (p.Thr721Ser) n.1873C>G c.9746C>G (p.Thr3249Ser) c.9754C>G (n.9754C>G) c.829C>G n.334C>G c.9650C>G (p.Thr3217Ser) | dbSNP |
| 13 | g.32398259C>T | CA387765648 | BRCA2 | c.*269C>T (n.*269C>T) c.*1113C>T (n.*1113C>T) c.9377C>T (p.Thr3126Ile) c.*1308C>T (n.*1308C>T) c.9695C>T (p.Thr3232Ile) c.2162C>T (p.Thr721Ile) n.1873C>T c.9746C>T (p.Thr3249Ile) c.9754C>T (n.9754C>T) c.829C>T n.334C>T c.9650C>T (p.Thr3217Ile) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398260T>A | CA483439953 | BRCA2 | c.*270T>A (n.*270T>A) c.*1114T>A (n.*1114T>A) c.9378T>A (p.Thr3126=) c.*1309T>A (n.*1309T>A) c.9696T>A (p.Thr3232=) c.2163T>A (p.Thr721=) n.1874T>A c.9747T>A (p.Thr3249=) c.9755T>A (n.9755T>A) c.830T>A n.335T>A c.9651T>A (p.Thr3217=) | dbSNP |
| 13 | g.32398260T>C | CA483439954 | BRCA2 | c.*270T>C (n.*270T>C) c.*1114T>C (n.*1114T>C) c.9378T>C (p.Thr3126=) c.*1309T>C (n.*1309T>C) c.9696T>C (p.Thr3232=) c.2163T>C (p.Thr721=) n.1874T>C c.9747T>C (p.Thr3249=) c.9755T>C (n.9755T>C) c.830T>C n.335T>C c.9651T>C (p.Thr3217=) | ClinVar dbSNP |
| 13 | g.32398260T>G | CA483439955 | BRCA2 | c.*270T>G (n.*270T>G) c.*1114T>G (n.*1114T>G) c.9378T>G (p.Thr3126=) c.*1309T>G (n.*1309T>G) c.9696T>G (p.Thr3232=) c.2163T>G (p.Thr721=) n.1874T>G c.9747T>G (p.Thr3249=) c.9755T>G (n.9755T>G) c.830T>G n.335T>G c.9651T>G (p.Thr3217=) | |
| 13 | g.32398261dup | CA10589573 | BRCA2 | c.*271dup (n.*271dup) c.*1115dup (n.*1115dup) c.9379dup (p.Ser3127PhefsTer5) c.*1310dup (n.*1310dup) c.9697dup (p.Ser3233PhefsTer5) c.2164dup (p.Ser722PhefsTer5) n.1875dup c.9748dup (p.Ser3250PhefsTer5) c.9756dup (n.9756dup) c.831dup n.336dup c.9652dup (p.Ser3218PhefsTer5) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398261T>A | CA387765653 | BRCA2 | c.*271T>A (n.*271T>A) c.*1115T>A (n.*1115T>A) c.9379T>A (p.Ser3127Thr) c.*1310T>A (n.*1310T>A) c.9697T>A (p.Ser3233Thr) c.2164T>A (p.Ser722Thr) n.1875T>A c.9748T>A (p.Ser3250Thr) c.9756T>A (n.9756T>A) c.831T>A n.336T>A c.9652T>A (p.Ser3218Thr) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398261T>C | CA387765655 | BRCA2 | c.*271T>C (n.*271T>C) c.*1115T>C (n.*1115T>C) c.9379T>C (p.Ser3127Pro) c.*1310T>C (n.*1310T>C) c.9697T>C (p.Ser3233Pro) c.2164T>C (p.Ser722Pro) n.1875T>C c.9748T>C (p.Ser3250Pro) c.9756T>C (n.9756T>C) c.831T>C n.336T>C c.9652T>C (p.Ser3218Pro) | |
| 13 | g.32398261T>G | CA387765659 | BRCA2 | c.*271T>G (n.*271T>G) c.*1115T>G (n.*1115T>G) c.9379T>G (p.Ser3127Ala) c.*1310T>G (n.*1310T>G) c.9697T>G (p.Ser3233Ala) c.2164T>G (p.Ser722Ala) n.1875T>G c.9748T>G (p.Ser3250Ala) c.9756T>G (n.9756T>G) c.831T>G n.336T>G c.9652T>G (p.Ser3218Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32398261T= | CA2082834797 | BRCA2 | c.*271T= (n.*271T=) c.*1115T= (n.*1115T=) c.9379T= (p.Ser3127=) c.*1310T= (n.*1310T=) c.9697T= (p.Ser3233=) c.2164T= (p.Ser722=) n.1875T= c.9748T= (p.Ser3250=) c.9756T= (n.9756T=) c.831T= n.336T= c.9652T= (p.Ser3218=) | |
| 13 | g.32398262C>A | CA387765661 | BRCA2 | c.*272C>A (n.*272C>A) c.*1116C>A (n.*1116C>A) c.9380C>A (p.Ser3127Ter) c.*1311C>A (n.*1311C>A) c.9698C>A (p.Ser3233Ter) c.2165C>A (p.Ser722Ter) n.1876C>A c.9749C>A (p.Ser3250Ter) c.9757C>A (n.9757C>A) c.832C>A n.337C>A c.9653C>A (p.Ser3218Ter) | dbSNP |
| 13 | g.32398262C>G | CA387765664 | BRCA2 | c.*272C>G (n.*272C>G) c.*1116C>G (n.*1116C>G) c.9380C>G (p.Ser3127Ter) c.*1311C>G (n.*1311C>G) c.9698C>G (p.Ser3233Ter) c.2165C>G (p.Ser722Ter) n.1876C>G c.9749C>G (p.Ser3250Ter) c.9757C>G (n.9757C>G) c.832C>G n.337C>G c.9653C>G (p.Ser3218Ter) | dbSNP |
| 13 | g.32398262C>T | CA387765671 | BRCA2 | c.*272C>T (n.*272C>T) c.*1116C>T (n.*1116C>T) c.9380C>T (p.Ser3127Leu) c.*1311C>T (n.*1311C>T) c.9698C>T (p.Ser3233Leu) c.2165C>T (p.Ser722Leu) n.1876C>T c.9749C>T (p.Ser3250Leu) c.9757C>T (n.9757C>T) c.832C>T n.337C>T c.9653C>T (p.Ser3218Leu) | ClinVar dbSNP |
| 13 | g.32398262dup | CA2580087448 | BRCA2 | c.*272dup (n.*272dup) c.*1116dup (n.*1116dup) c.9380dup (p.Ser3129ValfsTer3) c.*1311dup (n.*1311dup) c.9698dup (p.Ser3235ValfsTer3) c.2165dup (p.Ser724ValfsTer3) n.1876dup c.9749dup (p.Ser3252ValfsTer3) c.9757dup (n.9757dup) c.832dup n.337dup c.9653dup (p.Ser3220ValfsTer3) | ClinVar |
| 13 | g.32398263A= | CA2082834806 | BRCA2 | c.*273A= (n.*273A=) c.*1117A= (n.*1117A=) c.9381A= (p.Ser3127=) c.*1312A= (n.*1312A=) c.9699A= (p.Ser3233=) c.2166A= (p.Ser722=) n.1877A= c.9750A= (p.Ser3250=) c.9758A= (n.9758A=) c.833A= n.338A= c.9654A= (p.Ser3218=) | |
| 13 | g.32398263A>C | CA6941445 | BRCA2 | c.*273A>C (n.*273A>C) c.*1117A>C (n.*1117A>C) c.9381A>C (p.Ser3127=) c.*1312A>C (n.*1312A>C) c.9699A>C (p.Ser3233=) c.2166A>C (p.Ser722=) n.1877A>C c.9750A>C (p.Ser3250=) c.9758A>C (n.9758A>C) c.833A>C n.338A>C c.9654A>C (p.Ser3218=) | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32398263A>G | CA483439956 | BRCA2 | c.*273A>G (n.*273A>G) c.*1117A>G (n.*1117A>G) c.9381A>G (p.Ser3127=) c.*1312A>G (n.*1312A>G) c.9699A>G (p.Ser3233=) c.2166A>G (p.Ser722=) n.1877A>G c.9750A>G (p.Ser3250=) c.9758A>G (n.9758A>G) c.833A>G n.338A>G c.9654A>G (p.Ser3218=) | ClinVar dbSNP |
| 13 | g.32398263A>T | CA483439957 | BRCA2 | c.*273A>T (n.*273A>T) c.*1117A>T (n.*1117A>T) c.9381A>T (p.Ser3127=) c.*1312A>T (n.*1312A>T) c.9699A>T (p.Ser3233=) c.2166A>T (p.Ser722=) n.1877A>T c.9750A>T (p.Ser3250=) c.9758A>T (n.9758A>T) c.833A>T n.338A>T c.9654A>T (p.Ser3218=) | ClinVar dbSNP |
| 13 | g.32398264A= | CA2082834820 | BRCA2 | c.*274A= (n.*274A=) c.*1118A= (n.*1118A=) c.9382A= (p.Lys3128=) c.*1313A= (n.*1313A=) c.9700A= (p.Lys3234=) c.2167A= (p.Lys723=) n.1878A= c.9751A= (p.Lys3251=) c.9759A= (n.9759A=) c.834A= n.339A= c.9655A= (p.Lys3219=) | |
| 13 | g.32398264A>C | CA387765687 | BRCA2 | c.*274A>C (n.*274A>C) c.*1118A>C (n.*1118A>C) c.9382A>C (p.Lys3128Gln) c.*1313A>C (n.*1313A>C) c.9700A>C (p.Lys3234Gln) c.2167A>C (p.Lys723Gln) n.1878A>C c.9751A>C (p.Lys3251Gln) c.9759A>C (n.9759A>C) c.834A>C n.339A>C c.9655A>C (p.Lys3219Gln) | |
| 13 | g.32398264A>G | CA387765689 | BRCA2 | c.*274A>G (n.*274A>G) c.*1118A>G (n.*1118A>G) c.9382A>G (p.Lys3128Glu) c.*1313A>G (n.*1313A>G) c.9700A>G (p.Lys3234Glu) c.2167A>G (p.Lys723Glu) n.1878A>G c.9751A>G (p.Lys3251Glu) c.9759A>G (n.9759A>G) c.834A>G n.339A>G c.9655A>G (p.Lys3219Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32398264A>T | CA387765684 | BRCA2 | c.*274A>T (n.*274A>T) c.*1118A>T (n.*1118A>T) c.9382A>T (p.Lys3128Ter) c.*1313A>T (n.*1313A>T) c.9700A>T (p.Lys3234Ter) c.2167A>T (p.Lys723Ter) n.1878A>T c.9751A>T (p.Lys3251Ter) c.9759A>T (n.9759A>T) c.834A>T n.339A>T c.9655A>T (p.Lys3219Ter) | dbSNP |
| 13 | g.32398265A>C | CA387765691 | BRCA2 | c.*275A>C (n.*275A>C) c.*1119A>C (n.*1119A>C) c.9383A>C (p.Lys3128Thr) c.*1314A>C (n.*1314A>C) c.9701A>C (p.Lys3234Thr) c.2168A>C (p.Lys723Thr) n.1879A>C c.9752A>C (p.Lys3251Thr) c.9760A>C (n.9760A>C) c.835A>C n.340A>C c.9656A>C (p.Lys3219Thr) | |
| 13 | g.32398265A>G | CA387765700 | BRCA2 | c.*275A>G (n.*275A>G) c.*1119A>G (n.*1119A>G) c.9383A>G (p.Lys3128Arg) c.*1314A>G (n.*1314A>G) c.9701A>G (p.Lys3234Arg) c.2168A>G (p.Lys723Arg) n.1879A>G c.9752A>G (p.Lys3251Arg) c.9760A>G (n.9760A>G) c.835A>G n.340A>G c.9656A>G (p.Lys3219Arg) | dbSNP |
| 13 | g.32398265A>T | CA387765695 | BRCA2 | c.*275A>T (n.*275A>T) c.*1119A>T (n.*1119A>T) c.9383A>T (p.Lys3128Met) c.*1314A>T (n.*1314A>T) c.9701A>T (p.Lys3234Met) c.2168A>T (p.Lys723Met) n.1879A>T c.9752A>T (p.Lys3251Met) c.9760A>T (n.9760A>T) c.835A>T n.340A>T c.9656A>T (p.Lys3219Met) | dbSNP |
| 13 | g.32398265_32398266delinsAG | CA2082834827 | BRCA2 | c.*275_*276delinsAG (n.*275_*276delinsAG) c.*1119_*1120delinsAG (n.*1119_*1120delinsAG) c.9383_9384delinsAG (p.Lys3128=) c.*1314_*1315delinsAG (n.*1314_*1315delinsAG) c.9701_9702delinsAG (p.Lys3234=) c.2168_2169delinsAG (p.Lys723=) n.1879_1880delinsAG c.9752_9753delinsAG (p.Lys3251=) c.9760_9761delinsAG (n.9760_9761delinsAG) c.835_836delinsAG n.340_341delinsAG c.9656_9657delinsAG (p.Lys3219=) | |
| 13 | g.32398266del | CA10575936 | BRCA2 | c.*276del (n.*276del) c.*1120del (n.*1120del) c.9384del (p.Lys3128AsnfsTer24) c.*1315del (n.*1315del) c.9702del (p.Lys3234AsnfsTer24) c.2169del (p.Lys723AsnfsTer24) n.1880del c.9753del (p.Lys3251AsnfsTer24) c.9761del (n.9761del) c.836del n.341del c.9657del (p.Lys3219AsnfsTer24) | ClinVar dbSNP |
| 13 | g.32398266G>A | CA483439958 | BRCA2 | c.*276G>A (n.*276G>A) c.*1120G>A (n.*1120G>A) c.9384G>A (p.Lys3128=) c.*1315G>A (n.*1315G>A) c.9702G>A (p.Lys3234=) c.2169G>A (p.Lys723=) n.1880G>A c.9753G>A (p.Lys3251=) c.9761G>A (n.9761G>A) c.836G>A n.341G>A c.9657G>A (p.Lys3219=) | ClinVar dbSNP |
| 13 | g.32398266G>C | CA387765702 | BRCA2 | c.*276G>C (n.*276G>C) c.*1120G>C (n.*1120G>C) c.9384G>C (p.Lys3128Asn) c.*1315G>C (n.*1315G>C) c.9702G>C (p.Lys3234Asn) c.2169G>C (p.Lys723Asn) n.1880G>C c.9753G>C (p.Lys3251Asn) c.9761G>C (n.9761G>C) c.836G>C n.341G>C c.9657G>C (p.Lys3219Asn) | dbSNP |
| 13 | g.32398266G= | CA2082834853 | BRCA2 | c.*276G= (n.*276G=) c.*1120G= (n.*1120G=) c.9384G= (p.Lys3128=) c.*1315G= (n.*1315G=) c.9702G= (p.Lys3234=) c.2169G= (p.Lys723=) n.1880G= c.9753G= (p.Lys3251=) c.9761G= (n.9761G=) c.836G= n.341G= c.9657G= (p.Lys3219=) | |
| 13 | g.32398266G>T | CA026291 | BRCA2 | c.*276G>T (n.*276G>T) c.*1120G>T (n.*1120G>T) c.9384G>T (p.Lys3128Asn) c.*1315G>T (n.*1315G>T) c.9702G>T (p.Lys3234Asn) c.2169G>T (p.Lys723Asn) n.1880G>T c.9753G>T (p.Lys3251Asn) c.9761G>T (n.9761G>T) c.836G>T n.341G>T c.9657G>T (p.Lys3219Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32398266_32398267delinsGT | CA2082834841 | BRCA2 | c.*276_*277delinsGT (n.*276_*277delinsGT) c.*1120_*1121delinsGT (n.*1120_*1121delinsGT) c.9384_9385delinsGT (p.Lys3128=) c.*1315_*1316delinsGT (n.*1315_*1316delinsGT) c.9702_9703delinsGT (p.Lys3234=) c.2169_2170delinsGT (p.Lys723=) n.1880_1881delinsGT c.9753_9754delinsGT (p.Lys3251=) c.9761_9762delinsGT (n.9761_9762delinsGT) c.836_837delinsGT n.341_342delinsGT c.9657_9658delinsGT (p.Lys3219=) | |
| 13 | g.32398266_32398267delinsTC | CA891843584 | BRCA2 | c.*276_*277delinsTC (n.*276_*277delinsTC) c.*1120_*1121delinsTC (n.*1120_*1121delinsTC) c.9384_9385delinsTC (p.Lys3128_Ser3129delinsAsnPro) c.*1315_*1316delinsTC (n.*1315_*1316delinsTC) c.9702_9703delinsTC (p.Lys3234_Ser3235delinsAsnPro) c.2169_2170delinsTC (p.Lys723_Ser724delinsAsnPro) n.1880_1881delinsTC c.9753_9754delinsTC (p.Lys3251_Ser3252delinsAsnPro) c.9761_9762delinsTC (n.9761_9762delinsTC) c.836_837delinsTC n.341_342delinsTC c.9657_9658delinsTC (p.Lys3219_Ser3220delinsAsnPro) | ClinVar dbSNP |
| 13 | g.32398267_32398278del | CA645586594 | BRCA2 | c.*277_*288del (n.*277_*288del) c.*1121_*1132del (n.*1121_*1132del) c.9385_9396del (p.Ser3129_Gly3132del) c.*1316_*1327del (n.*1316_*1327del) c.9703_9714del (p.Ser3235_Gly3238del) c.2170_2181del (p.Ser724_Gly727del) n.1881_1892del c.9754_9765del (p.Ser3252_Gly3255del) c.9762_9773del (n.9762_9773del) n.342_353del c.9658_9669del (p.Ser3220_Gly3223del) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32398267T>A | CA387765710 | BRCA2 | c.*277T>A (n.*277T>A) c.*1121T>A (n.*1121T>A) c.9385T>A (p.Ser3129Thr) c.*1316T>A (n.*1316T>A) c.9703T>A (p.Ser3235Thr) c.2170T>A (p.Ser724Thr) n.1881T>A c.9754T>A (p.Ser3252Thr) c.9762T>A (n.9762T>A) c.837T>A n.342T>A c.9658T>A (p.Ser3220Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32398267T>C | CA16613984 | BRCA2 | c.*277T>C (n.*277T>C) c.*1121T>C (n.*1121T>C) c.9385T>C (p.Ser3129Pro) c.*1316T>C (n.*1316T>C) c.9703T>C (p.Ser3235Pro) c.2170T>C (p.Ser724Pro) n.1881T>C c.9754T>C (p.Ser3252Pro) c.9762T>C (n.9762T>C) c.837T>C n.342T>C c.9658T>C (p.Ser3220Pro) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398267T>G | CA387765711 | BRCA2 | c.*277T>G (n.*277T>G) c.*1121T>G (n.*1121T>G) c.9385T>G (p.Ser3129Ala) c.*1316T>G (n.*1316T>G) c.9703T>G (p.Ser3235Ala) c.2170T>G (p.Ser724Ala) n.1881T>G c.9754T>G (p.Ser3252Ala) c.9762T>G (n.9762T>G) c.837T>G n.342T>G c.9658T>G (p.Ser3220Ala) | ClinVar dbSNP |
| 13 | g.32398267T= | CA2082834870 | BRCA2 | c.*277T= (n.*277T=) c.*1121T= (n.*1121T=) c.9385T= (p.Ser3129=) c.*1316T= (n.*1316T=) c.9703T= (p.Ser3235=) c.2170T= (p.Ser724=) n.1881T= c.9754T= (p.Ser3252=) c.9762T= (n.9762T=) c.837T= n.342T= c.9658T= (p.Ser3220=) | |
| 13 | g.32398268C>A | CA387765715 | BRCA2 | c.*278C>A (n.*278C>A) c.*1122C>A (n.*1122C>A) c.9386C>A (p.Ser3129Tyr) c.*1317C>A (n.*1317C>A) c.9704C>A (p.Ser3235Tyr) c.2171C>A (p.Ser724Tyr) n.1882C>A c.9755C>A (p.Ser3252Tyr) c.9763C>A (n.9763C>A) c.838C>A n.343C>A c.9659C>A (p.Ser3220Tyr) | dbSNP |
| 13 | g.32398268C>G | CA387765718 | BRCA2 | c.*278C>G (n.*278C>G) c.*1122C>G (n.*1122C>G) c.9386C>G (p.Ser3129Cys) c.*1317C>G (n.*1317C>G) c.9704C>G (p.Ser3235Cys) c.2171C>G (p.Ser724Cys) n.1882C>G c.9755C>G (p.Ser3252Cys) c.9763C>G (n.9763C>G) c.838C>G n.343C>G c.9659C>G (p.Ser3220Cys) | dbSNP |
| 13 | g.32398268C>T | CA387765720 | BRCA2 | c.*278C>T (n.*278C>T) c.*1122C>T (n.*1122C>T) c.9386C>T (p.Ser3129Phe) c.*1317C>T (n.*1317C>T) c.9704C>T (p.Ser3235Phe) c.2171C>T (p.Ser724Phe) n.1882C>T c.9755C>T (p.Ser3252Phe) c.9763C>T (n.9763C>T) c.838C>T n.343C>T c.9659C>T (p.Ser3220Phe) | dbSNP COSMIC COSMIC |
| 13 | g.32398269T>A | CA483439962 | BRCA2 | c.*279T>A (n.*279T>A) c.*1123T>A (n.*1123T>A) c.9387T>A (p.Ser3129=) c.*1318T>A (n.*1318T>A) c.9705T>A (p.Ser3235=) c.2172T>A (p.Ser724=) n.1883T>A c.9756T>A (p.Ser3252=) c.9764T>A (n.9764T>A) c.839T>A n.344T>A c.9660T>A (p.Ser3220=) | dbSNP |
| 13 | g.32398269T>C | CA483439963 | BRCA2 | c.*279T>C (n.*279T>C) c.*1123T>C (n.*1123T>C) c.9387T>C (p.Ser3129=) c.*1318T>C (n.*1318T>C) c.9705T>C (p.Ser3235=) c.2172T>C (p.Ser724=) n.1883T>C c.9756T>C (p.Ser3252=) c.9764T>C (n.9764T>C) c.839T>C n.344T>C c.9660T>C (p.Ser3220=) | dbSNP |
| 13 | g.32398269T>G | CA483439964 | BRCA2 | c.*279T>G (n.*279T>G) c.*1123T>G (n.*1123T>G) c.9387T>G (p.Ser3129=) c.*1318T>G (n.*1318T>G) c.9705T>G (p.Ser3235=) c.2172T>G (p.Ser724=) n.1883T>G c.9756T>G (p.Ser3252=) c.9764T>G (n.9764T>G) c.839T>G n.344T>G c.9660T>G (p.Ser3220=) | |
| 13 | g.32398269_32398272dup | CA2580087450 | BRCA2 | c.*279_*282dup (n.*279_*282dup) c.*1123_*1126dup (n.*1123_*1126dup) c.9387_9390dup (p.Lys3131LeufsTer2) c.*1318_*1321dup (n.*1318_*1321dup) c.9705_9708dup (p.Lys3237LeufsTer2) c.2172_2175dup (p.Lys726LeufsTer2) n.1883_1886dup c.9756_9759dup (p.Lys3254LeufsTer2) c.9764_9767dup (n.9764_9767dup) n.344_347dup c.9660_9663dup (p.Lys3222LeufsTer2) | ClinVar |