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.32398159_32398164del | CA2504870543 | BRCA2 | c.*172-3_*174del c.*1016-3_*1018del c.9280-3_9282del c.*1211-3_*1213del c.9598-3_9600del c.2065-3_2067del n.1776-3_1778del c.9649-3_9651del c.9657-3_9659del c.2527-3_2529del c.732-3_734del n.237-3_239del c.9553-3_9555del | |
| 13 | g.32398161G>A | CA387765049 | BRCA2 | c.*172-1G>A (n.*172-1G>A) c.*1016-1G>A (n.*1016-1G>A) c.9280-1G>A (n.9280-1G>A) c.*1211-1G>A (n.*1211-1G>A) c.9598-1G>A (n.9598-1G>A) c.2065-1G>A (n.2065-1G>A) n.1776-1G>A c.9649-1G>A (n.9649-1G>A) c.9657-1G>A (n.9657-1G>A) c.2527-1G>A c.732-1G>A n.237-1G>A c.9553-1G>A (n.9553-1G>A) | dbSNP |
| 13 | g.32398161G>C | CA387765050 | BRCA2 | c.*172-1G>C (n.*172-1G>C) c.*1016-1G>C (n.*1016-1G>C) c.9280-1G>C (n.9280-1G>C) c.*1211-1G>C (n.*1211-1G>C) c.9598-1G>C (n.9598-1G>C) c.2065-1G>C (n.2065-1G>C) n.1776-1G>C c.9649-1G>C (n.9649-1G>C) c.9657-1G>C (n.9657-1G>C) c.2527-1G>C c.732-1G>C n.237-1G>C c.9553-1G>C (n.9553-1G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32398161G= | CA2082833835 | BRCA2 | c.*172-1G= (n.*172-1G=) c.*1016-1G= (n.*1016-1G=) c.9280-1G= (n.9280-1G=) c.*1211-1G= (n.*1211-1G=) c.9598-1G= (n.9598-1G=) c.2065-1G= (n.2065-1G=) n.1776-1G= c.9649-1G= (n.9649-1G=) c.9657-1G= (n.9657-1G=) c.2527-1G= c.732-1G= n.237-1G= c.9553-1G= (n.9553-1G=) | |
| 13 | g.32398161G>T | CA387765053 | BRCA2 | c.*172-1G>T (n.*172-1G>T) c.*1016-1G>T (n.*1016-1G>T) c.9280-1G>T (n.9280-1G>T) c.*1211-1G>T (n.*1211-1G>T) c.9598-1G>T (n.9598-1G>T) c.2065-1G>T (n.2065-1G>T) n.1776-1G>T c.9649-1G>T (n.9649-1G>T) c.9657-1G>T (n.9657-1G>T) c.2527-1G>T c.732-1G>T n.237-1G>T c.9553-1G>T (n.9553-1G>T) | ClinVar dbSNP gnomAD v4 |
| 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.32398162A= | CA2082833853 | BRCA2 | c.*172A= (n.*172A=) c.*1016A= (n.*1016A=) c.9280A= (p.Met3094=) c.*1211A= (n.*1211A=) c.9598A= (p.Met3200=) c.2065A= (p.Met689=) n.1776A= c.9649A= (p.Met3217=) c.9657A= (n.9657A=) c.2527A= c.732A= n.237A= c.9553A= (p.Met3185=) | |
| 13 | g.32398162A>C | CA026257 | BRCA2 | c.*172A>C (n.*172A>C) c.*1016A>C (n.*1016A>C) c.9280A>C (p.Met3094Leu) c.*1211A>C (n.*1211A>C) c.9598A>C (p.Met3200Leu) c.2065A>C (p.Met689Leu) n.1776A>C c.9649A>C (p.Met3217Leu) c.9657A>C (n.9657A>C) c.2527A>C c.732A>C n.237A>C c.9553A>C (p.Met3185Leu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398162A>G | CA10579842 | BRCA2 | c.*172A>G (n.*172A>G) c.*1016A>G (n.*1016A>G) c.9280A>G (p.Met3094Val) c.*1211A>G (n.*1211A>G) c.9598A>G (p.Met3200Val) c.2065A>G (p.Met689Val) n.1776A>G c.9649A>G (p.Met3217Val) c.9657A>G (n.9657A>G) c.2527A>G c.732A>G n.237A>G c.9553A>G (p.Met3185Val) | ClinVar dbSNP |
| 13 | g.32398162A>T | CA387765058 | BRCA2 | c.*172A>T (n.*172A>T) c.*1016A>T (n.*1016A>T) c.9280A>T (p.Met3094Leu) c.*1211A>T (n.*1211A>T) c.9598A>T (p.Met3200Leu) c.2065A>T (p.Met689Leu) n.1776A>T c.9649A>T (p.Met3217Leu) c.9657A>T (n.9657A>T) c.2527A>T c.732A>T n.237A>T c.9553A>T (p.Met3185Leu) | dbSNP |
| 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.32398163T>A | CA387765060 | BRCA2 | c.*173T>A (n.*173T>A) c.*1017T>A (n.*1017T>A) c.9281T>A (p.Met3094Lys) c.*1212T>A (n.*1212T>A) c.9599T>A (p.Met3200Lys) c.2066T>A (p.Met689Lys) n.1777T>A c.9650T>A (p.Met3217Lys) c.9658T>A (n.9658T>A) c.2528T>A c.733T>A n.238T>A c.9554T>A (p.Met3185Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32398163T>C | CA387765068 | BRCA2 | c.*173T>C (n.*173T>C) c.*1017T>C (n.*1017T>C) c.9281T>C (p.Met3094Thr) c.*1212T>C (n.*1212T>C) c.9599T>C (p.Met3200Thr) c.2066T>C (p.Met689Thr) n.1777T>C c.9650T>C (p.Met3217Thr) c.9658T>C (n.9658T>C) c.2528T>C c.733T>C n.238T>C c.9554T>C (p.Met3185Thr) | |
| 13 | g.32398163T>G | CA387765063 | BRCA2 | c.*173T>G (n.*173T>G) c.*1017T>G (n.*1017T>G) c.9281T>G (p.Met3094Arg) c.*1212T>G (n.*1212T>G) c.9599T>G (p.Met3200Arg) c.2066T>G (p.Met689Arg) n.1777T>G c.9650T>G (p.Met3217Arg) c.9658T>G (n.9658T>G) c.2528T>G c.733T>G n.238T>G c.9554T>G (p.Met3185Arg) | dbSNP |
| 13 | g.32398163T= | CA2082833857 | BRCA2 | c.*173T= (n.*173T=) c.*1017T= (n.*1017T=) c.9281T= (p.Met3094=) c.*1212T= (n.*1212T=) c.9599T= (p.Met3200=) c.2066T= (p.Met689=) n.1777T= c.9650T= (p.Met3217=) c.9658T= (n.9658T=) c.2528T= c.733T= n.238T= c.9554T= (p.Met3185=) | |
| 13 | g.32398164G>A | CA026259 | BRCA2 | c.*174G>A (n.*174G>A) c.*1018G>A (n.*1018G>A) c.9282G>A (p.Met3094Ile) c.*1213G>A (n.*1213G>A) c.9600G>A (p.Met3200Ile) c.2067G>A (p.Met689Ile) n.1778G>A c.9651G>A (p.Met3217Ile) c.9659G>A (n.9659G>A) c.2529G>A c.734G>A n.239G>A c.9555G>A (p.Met3185Ile) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398164G>C | CA387765072 | BRCA2 | c.*174G>C (n.*174G>C) c.*1018G>C (n.*1018G>C) c.9282G>C (p.Met3094Ile) c.*1213G>C (n.*1213G>C) c.9600G>C (p.Met3200Ile) c.2067G>C (p.Met689Ile) n.1778G>C c.9651G>C (p.Met3217Ile) c.9659G>C (n.9659G>C) c.2529G>C c.734G>C n.239G>C c.9555G>C (p.Met3185Ile) | dbSNP |
| 13 | g.32398164G= | CA2082833867 | BRCA2 | c.*174G= (n.*174G=) c.*1018G= (n.*1018G=) c.9282G= (p.Met3094=) c.*1213G= (n.*1213G=) c.9600G= (p.Met3200=) c.2067G= (p.Met689=) n.1778G= c.9651G= (p.Met3217=) c.9659G= (n.9659G=) c.2529G= c.734G= n.239G= c.9555G= (p.Met3185=) | |
| 13 | g.32398164G>T | CA387765070 | BRCA2 | c.*174G>T (n.*174G>T) c.*1018G>T (n.*1018G>T) c.9282G>T (p.Met3094Ile) c.*1213G>T (n.*1213G>T) c.9600G>T (p.Met3200Ile) c.2067G>T (p.Met689Ile) n.1778G>T c.9651G>T (p.Met3217Ile) c.9659G>T (n.9659G>T) c.2529G>T c.734G>T n.239G>T c.9555G>T (p.Met3185Ile) | dbSNP |
| 13 | g.32398165T>A | CA387765073 | BRCA2 | c.*175T>A (n.*175T>A) c.*1019T>A (n.*1019T>A) c.9283T>A (p.Ser3095Thr) c.*1214T>A (n.*1214T>A) c.9601T>A (p.Ser3201Thr) c.2068T>A (p.Ser690Thr) n.1779T>A c.9652T>A (p.Ser3218Thr) c.9660T>A (n.9660T>A) c.2530T>A c.735T>A n.240T>A c.9556T>A (p.Ser3186Thr) | dbSNP gnomAD v4 |
| 13 | g.32398165T>C | CA387765076 | BRCA2 | c.*175T>C (n.*175T>C) c.*1019T>C (n.*1019T>C) c.9283T>C (p.Ser3095Pro) c.*1214T>C (n.*1214T>C) c.9601T>C (p.Ser3201Pro) c.2068T>C (p.Ser690Pro) n.1779T>C c.9652T>C (p.Ser3218Pro) c.9660T>C (n.9660T>C) c.2530T>C c.735T>C n.240T>C c.9556T>C (p.Ser3186Pro) | dbSNP |
| 13 | g.32398165T>G | CA387765078 | BRCA2 | c.*175T>G (n.*175T>G) c.*1019T>G (n.*1019T>G) c.9283T>G (p.Ser3095Ala) c.*1214T>G (n.*1214T>G) c.9601T>G (p.Ser3201Ala) c.2068T>G (p.Ser690Ala) n.1779T>G c.9652T>G (p.Ser3218Ala) c.9660T>G (n.9660T>G) c.2530T>G c.735T>G n.240T>G c.9556T>G (p.Ser3186Ala) | dbSNP |
| 13 | g.32398166C>A | CA387765079 | BRCA2 | c.*176C>A (n.*176C>A) c.*1020C>A (n.*1020C>A) c.9284C>A (p.Ser3095Tyr) c.*1215C>A (n.*1215C>A) c.9602C>A (p.Ser3201Tyr) c.2069C>A (p.Ser690Tyr) n.1780C>A c.9653C>A (p.Ser3218Tyr) c.9661C>A (n.9661C>A) c.2531C>A c.736C>A n.241C>A c.9557C>A (p.Ser3186Tyr) | dbSNP |
| 13 | g.32398166C= | CA2082833874 | BRCA2 | c.*176C= (n.*176C=) c.*1020C= (n.*1020C=) c.9284C= (p.Ser3095=) c.*1215C= (n.*1215C=) c.9602C= (p.Ser3201=) c.2069C= (p.Ser690=) n.1780C= c.9653C= (p.Ser3218=) c.9661C= (n.9661C=) c.2531C= c.736C= n.241C= c.9557C= (p.Ser3186=) | |
| 13 | g.32398166C>G | CA387765081 | BRCA2 | c.*176C>G (n.*176C>G) c.*1020C>G (n.*1020C>G) c.9284C>G (p.Ser3095Cys) c.*1215C>G (n.*1215C>G) c.9602C>G (p.Ser3201Cys) c.2069C>G (p.Ser690Cys) n.1780C>G c.9653C>G (p.Ser3218Cys) c.9661C>G (n.9661C>G) c.2531C>G c.736C>G n.241C>G c.9557C>G (p.Ser3186Cys) | dbSNP |
| 13 | g.32398166C>T | CA387765084 | BRCA2 | c.*176C>T (n.*176C>T) c.*1020C>T (n.*1020C>T) c.9284C>T (p.Ser3095Phe) c.*1215C>T (n.*1215C>T) c.9602C>T (p.Ser3201Phe) c.2069C>T (p.Ser690Phe) n.1780C>T c.9653C>T (p.Ser3218Phe) c.9661C>T (n.9661C>T) c.2531C>T c.736C>T n.241C>T c.9557C>T (p.Ser3186Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32398167T>A | CA483439899 | BRCA2 | c.*177T>A (n.*177T>A) c.*1021T>A (n.*1021T>A) c.9285T>A (p.Ser3095=) c.*1216T>A (n.*1216T>A) c.9603T>A (p.Ser3201=) c.2070T>A (p.Ser690=) n.1781T>A c.9654T>A (p.Ser3218=) c.9662T>A (n.9662T>A) c.2532T>A c.737T>A n.242T>A c.9558T>A (p.Ser3186=) | |
| 13 | g.32398167T>C | CA483439900 | BRCA2 | c.*177T>C (n.*177T>C) c.*1021T>C (n.*1021T>C) c.9285T>C (p.Ser3095=) c.*1216T>C (n.*1216T>C) c.9603T>C (p.Ser3201=) c.2070T>C (p.Ser690=) n.1781T>C c.9654T>C (p.Ser3218=) c.9662T>C (n.9662T>C) c.2532T>C c.737T>C n.242T>C c.9558T>C (p.Ser3186=) | dbSNP |
| 13 | g.32398167T>G | CA483439901 | BRCA2 | c.*177T>G (n.*177T>G) c.*1021T>G (n.*1021T>G) c.9285T>G (p.Ser3095=) c.*1216T>G (n.*1216T>G) c.9603T>G (p.Ser3201=) c.2070T>G (p.Ser690=) n.1781T>G c.9654T>G (p.Ser3218=) c.9662T>G (n.9662T>G) c.2532T>G c.737T>G n.242T>G c.9558T>G (p.Ser3186=) | |
| 13 | g.32398168T>A | CA387765087 | BRCA2 | c.*178T>A (n.*178T>A) c.*1022T>A (n.*1022T>A) c.9286T>A (p.Ser3096Thr) c.*1217T>A (n.*1217T>A) c.9604T>A (p.Ser3202Thr) c.2071T>A (p.Ser691Thr) n.1782T>A c.9655T>A (p.Ser3219Thr) c.9663T>A (n.9663T>A) c.2533T>A c.738T>A n.243T>A c.9559T>A (p.Ser3187Thr) | |
| 13 | g.32398168T>C | CA387765088 | BRCA2 | c.*178T>C (n.*178T>C) c.*1022T>C (n.*1022T>C) c.9286T>C (p.Ser3096Pro) c.*1217T>C (n.*1217T>C) c.9604T>C (p.Ser3202Pro) c.2071T>C (p.Ser691Pro) n.1782T>C c.9655T>C (p.Ser3219Pro) c.9663T>C (n.9663T>C) c.2533T>C c.738T>C n.243T>C c.9559T>C (p.Ser3187Pro) | dbSNP |
| 13 | g.32398168T>G | CA387765089 | BRCA2 | c.*178T>G (n.*178T>G) c.*1022T>G (n.*1022T>G) c.9286T>G (p.Ser3096Ala) c.*1217T>G (n.*1217T>G) c.9604T>G (p.Ser3202Ala) c.2071T>G (p.Ser691Ala) n.1782T>G c.9655T>G (p.Ser3219Ala) c.9663T>G (n.9663T>G) c.2533T>G c.738T>G n.243T>G c.9559T>G (p.Ser3187Ala) | |
| 13 | g.32398168_32398171delinsTCTC | CA2082833877 | BRCA2 | c.*178_*181delinsTCTC (n.*178_*181delinsTCTC) c.*1022_*1025delinsTCTC (n.*1022_*1025delinsTCTC) c.9286_9289delinsTCTC (p.Ser3096=) c.*1217_*1220delinsTCTC (n.*1217_*1220delinsTCTC) c.9604_9607delinsTCTC (p.Ser3202=) c.2071_2074delinsTCTC (p.Ser691=) n.1782_1785delinsTCTC c.9655_9658delinsTCTC (p.Ser3219=) c.9663_9666delinsTCTC (n.9663_9666delinsTCTC) c.2533_2536delinsTCTC c.738_741delinsTCTC n.243_246delinsTCTC c.9559_9562delinsTCTC (p.Ser3187=) | |
| 13 | g.32398169C>A | CA387765092 | BRCA2 | c.*179C>A (n.*179C>A) c.*1023C>A (n.*1023C>A) c.9287C>A (p.Ser3096Tyr) c.*1218C>A (n.*1218C>A) c.9605C>A (p.Ser3202Tyr) c.2072C>A (p.Ser691Tyr) n.1783C>A c.9656C>A (p.Ser3219Tyr) c.9664C>A (n.9664C>A) c.2534C>A c.739C>A n.244C>A c.9560C>A (p.Ser3187Tyr) | dbSNP gnomAD v4 |
| 13 | g.32398169C= | CA2082833886 | BRCA2 | c.*179C= (n.*179C=) c.*1023C= (n.*1023C=) c.9287C= (p.Ser3096=) c.*1218C= (n.*1218C=) c.9605C= (p.Ser3202=) c.2072C= (p.Ser691=) n.1783C= c.9656C= (p.Ser3219=) c.9664C= (n.9664C=) c.2534C= c.739C= n.244C= c.9560C= (p.Ser3187=) | |
| 13 | g.32398169C>G | CA387765093 | BRCA2 | c.*179C>G (n.*179C>G) c.*1023C>G (n.*1023C>G) c.9287C>G (p.Ser3096Cys) c.*1218C>G (n.*1218C>G) c.9605C>G (p.Ser3202Cys) c.2072C>G (p.Ser691Cys) n.1783C>G c.9656C>G (p.Ser3219Cys) c.9664C>G (n.9664C>G) c.2534C>G c.739C>G n.244C>G c.9560C>G (p.Ser3187Cys) | dbSNP |
| 13 | g.32398169C>T | CA387765096 | BRCA2 | c.*179C>T (n.*179C>T) c.*1023C>T (n.*1023C>T) c.9287C>T (p.Ser3096Phe) c.*1218C>T (n.*1218C>T) c.9605C>T (p.Ser3202Phe) c.2072C>T (p.Ser691Phe) n.1783C>T c.9656C>T (p.Ser3219Phe) c.9664C>T (n.9664C>T) c.2534C>T c.739C>T n.244C>T c.9560C>T (p.Ser3187Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32398171_32398173del | CA1139663202 | BRCA2 | c.*181_*183del (n.*181_*183del) c.*1025_*1027del (n.*1025_*1027del) c.9289_9291del (p.Pro3097del) c.*1220_*1222del (n.*1220_*1222del) c.9607_9609del (p.Pro3203del) c.2074_2076del (p.Pro692del) n.1785_1787del c.9658_9660del (p.Pro3220del) c.9666_9668del (n.9666_9668del) c.2536_2538del c.741_743del n.246_248del c.9562_9564del (p.Pro3188del) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398170T>A | CA483439902 | BRCA2 | c.*180T>A (n.*180T>A) c.*1024T>A (n.*1024T>A) c.9288T>A (p.Ser3096=) c.*1219T>A (n.*1219T>A) c.9606T>A (p.Ser3202=) c.2073T>A (p.Ser691=) n.1784T>A c.9657T>A (p.Ser3219=) c.9665T>A (n.9665T>A) c.2535T>A c.740T>A n.245T>A c.9561T>A (p.Ser3187=) | dbSNP |
| 13 | g.32398170T>C | CA483439903 | BRCA2 | c.*180T>C (n.*180T>C) c.*1024T>C (n.*1024T>C) c.9288T>C (p.Ser3096=) c.*1219T>C (n.*1219T>C) c.9606T>C (p.Ser3202=) c.2073T>C (p.Ser691=) n.1784T>C c.9657T>C (p.Ser3219=) c.9665T>C (n.9665T>C) c.2535T>C c.740T>C n.245T>C c.9561T>C (p.Ser3187=) | ClinVar dbSNP |
| 13 | g.32398170T>G | CA483439904 | BRCA2 | c.*180T>G (n.*180T>G) c.*1024T>G (n.*1024T>G) c.9288T>G (p.Ser3096=) c.*1219T>G (n.*1219T>G) c.9606T>G (p.Ser3202=) c.2073T>G (p.Ser691=) n.1784T>G c.9657T>G (p.Ser3219=) c.9665T>G (n.9665T>G) c.2535T>G c.740T>G n.245T>G c.9561T>G (p.Ser3187=) | ClinVar |
| 13 | g.32398170T= | CA2082833901 | BRCA2 | c.*180T= (n.*180T=) c.*1024T= (n.*1024T=) c.9288T= (p.Ser3096=) c.*1219T= (n.*1219T=) c.9606T= (p.Ser3202=) c.2073T= (p.Ser691=) n.1784T= c.9657T= (p.Ser3219=) c.9665T= (n.9665T=) c.2535T= c.740T= n.245T= c.9561T= (p.Ser3187=) | |
| 13 | g.32398171C>A | CA387765104 | BRCA2 | c.*181C>A (n.*181C>A) c.*1025C>A (n.*1025C>A) c.9289C>A (p.Pro3097Thr) c.*1220C>A (n.*1220C>A) c.9607C>A (p.Pro3203Thr) c.2074C>A (p.Pro692Thr) n.1785C>A c.9658C>A (p.Pro3220Thr) c.9666C>A (n.9666C>A) c.2536C>A c.741C>A n.246C>A c.9562C>A (p.Pro3188Thr) | dbSNP |
| 13 | g.32398171C= | CA2082833915 | BRCA2 | c.*181C= (n.*181C=) c.*1025C= (n.*1025C=) c.9289C= (p.Pro3097=) c.*1220C= (n.*1220C=) c.9607C= (p.Pro3203=) c.2074C= (p.Pro692=) n.1785C= c.9658C= (p.Pro3220=) c.9666C= (n.9666C=) c.2536C= c.741C= n.246C= c.9562C= (p.Pro3188=) | |
| 13 | g.32398171C>G | CA387765100 | BRCA2 | c.*181C>G (n.*181C>G) c.*1025C>G (n.*1025C>G) c.9289C>G (p.Pro3097Ala) c.*1220C>G (n.*1220C>G) c.9607C>G (p.Pro3203Ala) c.2074C>G (p.Pro692Ala) n.1785C>G c.9658C>G (p.Pro3220Ala) c.9666C>G (n.9666C>G) c.2536C>G c.741C>G n.246C>G c.9562C>G (p.Pro3188Ala) | dbSNP |
| 13 | g.32398171C>T | CA026260 | BRCA2 | c.*181C>T (n.*181C>T) c.*1025C>T (n.*1025C>T) c.9289C>T (p.Pro3097Ser) c.*1220C>T (n.*1220C>T) c.9607C>T (p.Pro3203Ser) c.2074C>T (p.Pro692Ser) n.1785C>T c.9658C>T (p.Pro3220Ser) c.9666C>T (n.9666C>T) c.2536C>T c.741C>T n.246C>T c.9562C>T (p.Pro3188Ser) | ClinVar dbSNP |
| 13 | g.32398172C>A | CA387765107 | BRCA2 | c.*182C>A (n.*182C>A) c.*1026C>A (n.*1026C>A) c.9290C>A (p.Pro3097His) c.*1221C>A (n.*1221C>A) c.9608C>A (p.Pro3203His) c.2075C>A (p.Pro692His) n.1786C>A c.9659C>A (p.Pro3220His) c.9667C>A (n.9667C>A) c.2537C>A c.742C>A n.247C>A c.9563C>A (p.Pro3188His) | |
| 13 | g.32398172C>G | CA387765109 | BRCA2 | c.*182C>G (n.*182C>G) c.*1026C>G (n.*1026C>G) c.9290C>G (p.Pro3097Arg) c.*1221C>G (n.*1221C>G) c.9608C>G (p.Pro3203Arg) c.2075C>G (p.Pro692Arg) n.1786C>G c.9659C>G (p.Pro3220Arg) c.9667C>G (n.9667C>G) c.2537C>G c.742C>G n.247C>G c.9563C>G (p.Pro3188Arg) | |
| 13 | g.32398172C>T | CA387765112 | BRCA2 | c.*182C>T (n.*182C>T) c.*1026C>T (n.*1026C>T) c.9290C>T (p.Pro3097Leu) c.*1221C>T (n.*1221C>T) c.9608C>T (p.Pro3203Leu) c.2075C>T (p.Pro692Leu) n.1786C>T c.9659C>T (p.Pro3220Leu) c.9667C>T (n.9667C>T) c.2537C>T c.742C>T n.247C>T c.9563C>T (p.Pro3188Leu) |