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.32398487_32398571del | CA609453952 | BRCA2 | c.*497_*581del (n.*497_*581del) c.*1341_*1425del (n.*1341_*1425del) c.9605_9689del (p.Phe3202CysfsTer30) c.*1536_*1620del (n.*1536_*1620del) c.9923_10007del (p.Phe3308CysfsTer30) c.2390_2474del (p.Phe797CysfsTer30) n.2101_2185del c.9974_10058del (p.Phe3325CysfsTer30) c.9982_10066del (n.9982_10066del) c.9878_9962del (p.Phe3293CysfsTer30) | ClinVar gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398556del | CA2695217837 | BRCA2 | c.*566del (n.*566del) c.*1410del (n.*1410del) c.9674del (p.Asn3225IlefsTer?) c.*1605del (n.*1605del) c.9992del (p.Asn3331IlefsTer?) c.2459del (p.Asn820IlefsTer?) n.2170del c.10043del (p.Asn3348IlefsTer?) c.10051del (n.10051del) c.9947del (p.Asn3316IlefsTer?) | |
| 13 | g.32398556A= | CA2082836709 | BRCA2 | c.*566A= (n.*566A=) c.*1410A= (n.*1410A=) c.9674A= (p.Asn3225=) c.*1605A= (n.*1605A=) c.9992A= (p.Asn3331=) c.2459A= (p.Asn820=) n.2170A= c.10043A= (p.Asn3348=) c.10051A= (n.10051A=) c.9947A= (p.Asn3316=) | |
| 13 | g.32398556A>C | CA387767809 | BRCA2 | c.*566A>C (n.*566A>C) c.*1410A>C (n.*1410A>C) c.9674A>C (p.Asn3225Thr) c.*1605A>C (n.*1605A>C) c.9992A>C (p.Asn3331Thr) c.2459A>C (p.Asn820Thr) n.2170A>C c.10043A>C (p.Asn3348Thr) c.10051A>C (n.10051A>C) c.9947A>C (p.Asn3316Thr) | dbSNP |
| 13 | g.32398556A>G | CA336150 | BRCA2 | c.*566A>G (n.*566A>G) c.*1410A>G (n.*1410A>G) c.9674A>G (p.Asn3225Ser) c.*1605A>G (n.*1605A>G) c.9992A>G (p.Asn3331Ser) c.2459A>G (p.Asn820Ser) n.2170A>G c.10043A>G (p.Asn3348Ser) c.10051A>G (n.10051A>G) c.9947A>G (p.Asn3316Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32398556A>T | CA387767812 | BRCA2 | c.*566A>T (n.*566A>T) c.*1410A>T (n.*1410A>T) c.9674A>T (p.Asn3225Ile) c.*1605A>T (n.*1605A>T) c.9992A>T (p.Asn3331Ile) c.2459A>T (p.Asn820Ile) n.2170A>T c.10043A>T (p.Asn3348Ile) c.10051A>T (n.10051A>T) c.9947A>T (p.Asn3316Ile) | |
| 13 | g.32398557T>A | CA387767813 | BRCA2 | c.*567T>A (n.*567T>A) c.*1411T>A (n.*1411T>A) c.9675T>A (p.Asn3225Lys) c.*1606T>A (n.*1606T>A) c.9993T>A (p.Asn3331Lys) c.2460T>A (p.Asn820Lys) n.2171T>A c.10044T>A (p.Asn3348Lys) c.10052T>A (n.10052T>A) c.9948T>A (p.Asn3316Lys) | dbSNP |
| 13 | g.32398557T>C | CA483440379 | BRCA2 | c.*567T>C (n.*567T>C) c.*1411T>C (n.*1411T>C) c.9675T>C (p.Asn3225=) c.*1606T>C (n.*1606T>C) c.9993T>C (p.Asn3331=) c.2460T>C (p.Asn820=) n.2171T>C c.10044T>C (p.Asn3348=) c.10052T>C (n.10052T>C) c.9948T>C (p.Asn3316=) | ClinVar dbSNP |
| 13 | g.32398557T>G | CA387767814 | BRCA2 | c.*567T>G (n.*567T>G) c.*1411T>G (n.*1411T>G) c.9675T>G (p.Asn3225Lys) c.*1606T>G (n.*1606T>G) c.9993T>G (p.Asn3331Lys) c.2460T>G (p.Asn820Lys) n.2171T>G c.10044T>G (p.Asn3348Lys) c.10052T>G (n.10052T>G) c.9948T>G (p.Asn3316Lys) | |
| 13 | g.32398558A= | CA2082836720 | BRCA2 | c.*568A= (n.*568A=) c.*1412A= (n.*1412A=) c.9676A= (p.Thr3226=) c.*1607A= (n.*1607A=) c.9994A= (p.Thr3332=) c.2461A= (p.Thr821=) n.2172A= c.10045A= (p.Thr3349=) c.10053A= (n.10053A=) c.9949A= (p.Thr3317=) | |
| 13 | g.32398558A>C | CA387767816 | BRCA2 | c.*568A>C (n.*568A>C) c.*1412A>C (n.*1412A>C) c.9676A>C (p.Thr3226Pro) c.*1607A>C (n.*1607A>C) c.9994A>C (p.Thr3332Pro) c.2461A>C (p.Thr821Pro) n.2172A>C c.10045A>C (p.Thr3349Pro) c.10053A>C (n.10053A>C) c.9949A>C (p.Thr3317Pro) | |
| 13 | g.32398558A>G | CA010094 | BRCA2 | c.*568A>G (n.*568A>G) c.*1412A>G (n.*1412A>G) c.9676A>G (p.Thr3226Ala) c.*1607A>G (n.*1607A>G) c.9994A>G (p.Thr3332Ala) c.2461A>G (p.Thr821Ala) n.2172A>G c.10045A>G (p.Thr3349Ala) c.10053A>G (n.10053A>G) c.9949A>G (p.Thr3317Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.32398558A>T | CA387767818 | BRCA2 | c.*568A>T (n.*568A>T) c.*1412A>T (n.*1412A>T) c.9676A>T (p.Thr3226Ser) c.*1607A>T (n.*1607A>T) c.9994A>T (p.Thr3332Ser) c.2461A>T (p.Thr821Ser) n.2172A>T c.10045A>T (p.Thr3349Ser) c.10053A>T (n.10053A>T) c.9949A>T (p.Thr3317Ser) | |
| 13 | g.32398559C>A | CA387767820 | BRCA2 | c.*569C>A (n.*569C>A) c.*1413C>A (n.*1413C>A) c.9677C>A (p.Thr3226Asn) c.*1608C>A (n.*1608C>A) c.9995C>A (p.Thr3332Asn) c.2462C>A (p.Thr821Asn) n.2173C>A c.10046C>A (p.Thr3349Asn) c.10054C>A (n.10054C>A) c.9950C>A (p.Thr3317Asn) | ClinVar dbSNP |
| 13 | g.32398559C= | CA2082836747 | BRCA2 | c.*569C= (n.*569C=) c.*1413C= (n.*1413C=) c.9677C= (p.Thr3226=) c.*1608C= (n.*1608C=) c.9995C= (p.Thr3332=) c.2462C= (p.Thr821=) n.2173C= c.10046C= (p.Thr3349=) c.10054C= (n.10054C=) c.9950C= (p.Thr3317=) | |
| 13 | g.32398559C>G | CA387767821 | BRCA2 | c.*569C>G (n.*569C>G) c.*1413C>G (n.*1413C>G) c.9677C>G (p.Thr3226Ser) c.*1608C>G (n.*1608C>G) c.9995C>G (p.Thr3332Ser) c.2462C>G (p.Thr821Ser) n.2173C>G c.10046C>G (p.Thr3349Ser) c.10054C>G (n.10054C>G) c.9950C>G (p.Thr3317Ser) | dbSNP |
| 13 | g.32398559C>T | CA387767824 | BRCA2 | c.*569C>T (n.*569C>T) c.*1413C>T (n.*1413C>T) c.9677C>T (p.Thr3226Ile) c.*1608C>T (n.*1608C>T) c.9995C>T (p.Thr3332Ile) c.2462C>T (p.Thr821Ile) n.2173C>T c.10046C>T (p.Thr3349Ile) c.10054C>T (n.10054C>T) c.9950C>T (p.Thr3317Ile) | dbSNP |
| 13 | g.32398560_32398561del | CA2580087488 | BRCA2 | c.*570_*571del (n.*570_*571del) c.*1414_*1415del (n.*1414_*1415del) c.9678_9679del (p.Gln3227SerfsTer17) c.*1609_*1610del (n.*1609_*1610del) c.9996_9997del (p.Gln3333SerfsTer17) c.2463_2464del (p.Gln822SerfsTer17) n.2174_2175del c.10047_10048del (p.Gln3350SerfsTer17) c.10055_10056del (n.10055_10056del) c.9951_9952del (p.Gln3318SerfsTer17) | ClinVar |
| 13 | g.32398560C>A | CA483440385 | BRCA2 | c.*570C>A (n.*570C>A) c.*1414C>A (n.*1414C>A) c.9678C>A (p.Thr3226=) c.*1609C>A (n.*1609C>A) c.9996C>A (p.Thr3332=) c.2463C>A (p.Thr821=) n.2174C>A c.10047C>A (p.Thr3349=) c.10055C>A (n.10055C>A) c.9951C>A (p.Thr3317=) | dbSNP |
| 13 | g.32398560C>G | CA483440386 | BRCA2 | c.*570C>G (n.*570C>G) c.*1414C>G (n.*1414C>G) c.9678C>G (p.Thr3226=) c.*1609C>G (n.*1609C>G) c.9996C>G (p.Thr3332=) c.2463C>G (p.Thr821=) n.2174C>G c.10047C>G (p.Thr3349=) c.10055C>G (n.10055C>G) c.9951C>G (p.Thr3317=) | dbSNP |
| 13 | g.32398560C>T | CA483440388 | BRCA2 | c.*570C>T (n.*570C>T) c.*1414C>T (n.*1414C>T) c.9678C>T (p.Thr3226=) c.*1609C>T (n.*1609C>T) c.9996C>T (p.Thr3332=) c.2463C>T (p.Thr821=) n.2174C>T c.10047C>T (p.Thr3349=) c.10055C>T (n.10055C>T) c.9951C>T (p.Thr3317=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398561C>A | CA387767825 | BRCA2 | c.*571C>A (n.*571C>A) c.*1415C>A (n.*1415C>A) c.9679C>A (p.Gln3227Lys) c.*1610C>A (n.*1610C>A) c.9997C>A (p.Gln3333Lys) c.2464C>A (p.Gln822Lys) n.2175C>A c.10048C>A (p.Gln3350Lys) c.10056C>A (n.10056C>A) c.9952C>A (p.Gln3318Lys) | dbSNP |
| 13 | g.32398561C>G | CA387767827 | BRCA2 | c.*571C>G (n.*571C>G) c.*1415C>G (n.*1415C>G) c.9679C>G (p.Gln3227Glu) c.*1610C>G (n.*1610C>G) c.9997C>G (p.Gln3333Glu) c.2464C>G (p.Gln822Glu) n.2175C>G c.10048C>G (p.Gln3350Glu) c.10056C>G (n.10056C>G) c.9952C>G (p.Gln3318Glu) | dbSNP |
| 13 | g.32398561C>T | CA387767828 | BRCA2 | c.*571C>T (n.*571C>T) c.*1415C>T (n.*1415C>T) c.9679C>T (p.Gln3227Ter) c.*1610C>T (n.*1610C>T) c.9997C>T (p.Gln3333Ter) c.2464C>T (p.Gln822Ter) n.2175C>T c.10048C>T (p.Gln3350Ter) c.10056C>T (n.10056C>T) c.9952C>T (p.Gln3318Ter) | ClinVar dbSNP |
| 13 | g.32398562A= | CA2082836764 | BRCA2 | c.*572A= (n.*572A=) c.*1416A= (n.*1416A=) c.9680A= (p.Gln3227=) c.*1611A= (n.*1611A=) c.9998A= (p.Gln3333=) c.2465A= (p.Gln822=) n.2176A= c.10049A= (p.Gln3350=) c.10057A= (n.10057A=) c.9953A= (p.Gln3318=) | |
| 13 | g.32398562A>C | CA387767831 | BRCA2 | c.*572A>C (n.*572A>C) c.*1416A>C (n.*1416A>C) c.9680A>C (p.Gln3227Pro) c.*1611A>C (n.*1611A>C) c.9998A>C (p.Gln3333Pro) c.2465A>C (p.Gln822Pro) n.2176A>C c.10049A>C (p.Gln3350Pro) c.10057A>C (n.10057A>C) c.9953A>C (p.Gln3318Pro) | |
| 13 | g.32398562A>G | CA387767832 | BRCA2 | c.*572A>G (n.*572A>G) c.*1416A>G (n.*1416A>G) c.9680A>G (p.Gln3227Arg) c.*1611A>G (n.*1611A>G) c.9998A>G (p.Gln3333Arg) c.2465A>G (p.Gln822Arg) n.2176A>G c.10049A>G (p.Gln3350Arg) c.10057A>G (n.10057A>G) c.9953A>G (p.Gln3318Arg) | ClinVar dbSNP |
| 13 | g.32398562A>T | CA387767830 | BRCA2 | c.*572A>T (n.*572A>T) c.*1416A>T (n.*1416A>T) c.9680A>T (p.Gln3227Leu) c.*1611A>T (n.*1611A>T) c.9998A>T (p.Gln3333Leu) c.2465A>T (p.Gln822Leu) n.2176A>T c.10049A>T (p.Gln3350Leu) c.10057A>T (n.10057A>T) c.9953A>T (p.Gln3318Leu) | ClinVar dbSNP |
| 13 | g.32398563A= | CA2082836771 | BRCA2 | c.*573A= (n.*573A=) c.*1417A= (n.*1417A=) c.9681A= (p.Gln3227=) c.*1612A= (n.*1612A=) c.9999A= (p.Gln3333=) c.2466A= (p.Gln822=) n.2177A= c.10050A= (p.Gln3350=) c.10058A= (n.10058A=) c.9954A= (p.Gln3318=) | |
| 13 | g.32398563A>C | CA16614030 | BRCA2 | c.*573A>C (n.*573A>C) c.*1417A>C (n.*1417A>C) c.9681A>C (p.Gln3227His) c.*1612A>C (n.*1612A>C) c.9999A>C (p.Gln3333His) c.2466A>C (p.Gln822His) n.2177A>C c.10050A>C (p.Gln3350His) c.10058A>C (n.10058A>C) c.9954A>C (p.Gln3318His) | ClinVar dbSNP |
| 13 | g.32398563A>G | CA483440394 | BRCA2 | c.*573A>G (n.*573A>G) c.*1417A>G (n.*1417A>G) c.9681A>G (p.Gln3227=) c.*1612A>G (n.*1612A>G) c.9999A>G (p.Gln3333=) c.2466A>G (p.Gln822=) n.2177A>G c.10050A>G (p.Gln3350=) c.10058A>G (n.10058A>G) c.9954A>G (p.Gln3318=) | dbSNP gnomAD v4 |
| 13 | g.32398563A>T | CA387767834 | BRCA2 | c.*573A>T (n.*573A>T) c.*1417A>T (n.*1417A>T) c.9681A>T (p.Gln3227His) c.*1612A>T (n.*1612A>T) c.9999A>T (p.Gln3333His) c.2466A>T (p.Gln822His) n.2177A>T c.10050A>T (p.Gln3350His) c.10058A>T (n.10058A>T) c.9954A>T (p.Gln3318His) | dbSNP |
| 13 | g.32398564G>A | CA387767835 | BRCA2 | c.*574G>A (n.*574G>A) c.*1418G>A (n.*1418G>A) c.9682G>A (p.Ala3228Thr) c.*1613G>A (n.*1613G>A) c.10000G>A (p.Ala3334Thr) c.2467G>A (p.Ala823Thr) n.2178G>A c.10051G>A (p.Ala3351Thr) c.10059G>A (n.10059G>A) c.9955G>A (p.Ala3319Thr) | dbSNP |
| 13 | g.32398564G>C | CA010105 | BRCA2 | c.*574G>C (n.*574G>C) c.*1418G>C (n.*1418G>C) c.9682G>C (p.Ala3228Pro) c.*1613G>C (n.*1613G>C) c.10000G>C (p.Ala3334Pro) c.2467G>C (p.Ala823Pro) n.2178G>C c.10051G>C (p.Ala3351Pro) c.10059G>C (n.10059G>C) c.9955G>C (p.Ala3319Pro) | ClinVar dbSNP |
| 13 | g.32398564G= | CA2082836776 | BRCA2 | c.*574G= (n.*574G=) c.*1418G= (n.*1418G=) c.9682G= (p.Ala3228=) c.*1613G= (n.*1613G=) c.10000G= (p.Ala3334=) c.2467G= (p.Ala823=) n.2178G= c.10051G= (p.Ala3351=) c.10059G= (n.10059G=) c.9955G= (p.Ala3319=) | |
| 13 | g.32398564G>T | CA387767837 | BRCA2 | c.*574G>T (n.*574G>T) c.*1418G>T (n.*1418G>T) c.9682G>T (p.Ala3228Ser) c.*1613G>T (n.*1613G>T) c.10000G>T (p.Ala3334Ser) c.2467G>T (p.Ala823Ser) n.2178G>T c.10051G>T (p.Ala3351Ser) c.10059G>T (n.10059G>T) c.9955G>T (p.Ala3319Ser) | ClinVar dbSNP |
| 13 | g.32398565C>A | CA387767839 | BRCA2 | c.*575C>A (n.*575C>A) c.*1419C>A (n.*1419C>A) c.9683C>A (p.Ala3228Asp) c.*1614C>A (n.*1614C>A) c.10001C>A (p.Ala3334Asp) c.2468C>A (p.Ala823Asp) n.2179C>A c.10052C>A (p.Ala3351Asp) c.10060C>A (n.10060C>A) c.9956C>A (p.Ala3319Asp) | dbSNP |
| 13 | g.32398565C>G | CA387767841 | BRCA2 | c.*575C>G (n.*575C>G) c.*1419C>G (n.*1419C>G) c.9683C>G (p.Ala3228Gly) c.*1614C>G (n.*1614C>G) c.10001C>G (p.Ala3334Gly) c.2468C>G (p.Ala823Gly) n.2179C>G c.10052C>G (p.Ala3351Gly) c.10060C>G (n.10060C>G) c.9956C>G (p.Ala3319Gly) | dbSNP |
| 13 | g.32398565C>T | CA387767842 | BRCA2 | c.*575C>T (n.*575C>T) c.*1419C>T (n.*1419C>T) c.9683C>T (p.Ala3228Val) c.*1614C>T (n.*1614C>T) c.10001C>T (p.Ala3334Val) c.2468C>T (p.Ala823Val) n.2179C>T c.10052C>T (p.Ala3351Val) c.10060C>T (n.10060C>T) c.9956C>T (p.Ala3319Val) | dbSNP gnomAD v4 |
| 13 | g.32398566T>A | CA10579856 | BRCA2 | c.*576T>A (n.*576T>A) c.*1420T>A (n.*1420T>A) c.9684T>A (p.Ala3228=) c.*1615T>A (n.*1615T>A) c.10002T>A (p.Ala3334=) c.2469T>A (p.Ala823=) n.2180T>A c.10053T>A (p.Ala3351=) c.10061T>A (n.10061T>A) c.9957T>A (p.Ala3319=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398566T>C | CA010114 | BRCA2 | c.*576T>C (n.*576T>C) c.*1420T>C (n.*1420T>C) c.9684T>C (p.Ala3228=) c.*1615T>C (n.*1615T>C) c.10002T>C (p.Ala3334=) c.2469T>C (p.Ala823=) n.2180T>C c.10053T>C (p.Ala3351=) c.10061T>C (n.10061T>C) c.9957T>C (p.Ala3319=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32398566T>G | CA483440399 | BRCA2 | c.*576T>G (n.*576T>G) c.*1420T>G (n.*1420T>G) c.9684T>G (p.Ala3228=) c.*1615T>G (n.*1615T>G) c.10002T>G (p.Ala3334=) c.2469T>G (p.Ala823=) n.2180T>G c.10053T>G (p.Ala3351=) c.10061T>G (n.10061T>G) c.9957T>G (p.Ala3319=) | |
| 13 | g.32398566T= | CA2082836787 | BRCA2 | c.*576T= (n.*576T=) c.*1420T= (n.*1420T=) c.9684T= (p.Ala3228=) c.*1615T= (n.*1615T=) c.10002T= (p.Ala3334=) c.2469T= (p.Ala823=) n.2180T= c.10053T= (p.Ala3351=) c.10061T= (n.10061T=) c.9957T= (p.Ala3319=) | |
| 13 | g.32398567C>A | CA387767845 | BRCA2 | c.*577C>A (n.*577C>A) c.*1421C>A (n.*1421C>A) c.9685C>A (p.Leu3229Ile) c.*1616C>A (n.*1616C>A) c.10003C>A (p.Leu3335Ile) c.2470C>A (p.Leu824Ile) n.2181C>A c.10054C>A (p.Leu3352Ile) c.10062C>A (n.10062C>A) c.9958C>A (p.Leu3320Ile) | ClinVar dbSNP |
| 13 | g.32398567C= | CA2082836803 | BRCA2 | c.*577C= (n.*577C=) c.*1421C= (n.*1421C=) c.9685C= (p.Leu3229=) c.*1616C= (n.*1616C=) c.10003C= (p.Leu3335=) c.2470C= (p.Leu824=) n.2181C= c.10054C= (p.Leu3352=) c.10062C= (n.10062C=) c.9958C= (p.Leu3320=) | |
| 13 | g.32398567C>G | CA387767846 | BRCA2 | c.*577C>G (n.*577C>G) c.*1421C>G (n.*1421C>G) c.9685C>G (p.Leu3229Val) c.*1616C>G (n.*1616C>G) c.10003C>G (p.Leu3335Val) c.2470C>G (p.Leu824Val) n.2181C>G c.10054C>G (p.Leu3352Val) c.10062C>G (n.10062C>G) c.9958C>G (p.Leu3320Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398567C>T | CA387767847 | BRCA2 | c.*577C>T (n.*577C>T) c.*1421C>T (n.*1421C>T) c.9685C>T (p.Leu3229Phe) c.*1616C>T (n.*1616C>T) c.10003C>T (p.Leu3335Phe) c.2470C>T (p.Leu824Phe) n.2181C>T c.10054C>T (p.Leu3352Phe) c.10062C>T (n.10062C>T) c.9958C>T (p.Leu3320Phe) | ClinVar dbSNP |