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.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=) | |
| 13 | g.32398407T>G | CA387766875 | BRCA2 | c.*417T>G (n.*417T>G) c.*1261T>G (n.*1261T>G) c.9525T>G (p.Phe3175Leu) c.*1456T>G (n.*1456T>G) c.9843T>G (p.Phe3281Leu) c.2310T>G (p.Phe770Leu) n.2021T>G c.9894T>G (p.Phe3298Leu) c.9902T>G (n.9902T>G) n.482T>G c.9798T>G (p.Phe3266Leu) | |
| 13 | g.32398408C>A | CA387766880 | BRCA2 | c.*418C>A (n.*418C>A) c.*1262C>A (n.*1262C>A) c.9526C>A (p.Gln3176Lys) c.*1457C>A (n.*1457C>A) c.9844C>A (p.Gln3282Lys) c.2311C>A (p.Gln771Lys) n.2022C>A c.9895C>A (p.Gln3299Lys) c.9903C>A (n.9903C>A) n.483C>A c.9799C>A (p.Gln3267Lys) | dbSNP |
| 13 | g.32398408C= | CA2082835806 | BRCA2 | c.*418C= (n.*418C=) c.*1262C= (n.*1262C=) c.9526C= (p.Gln3176=) c.*1457C= (n.*1457C=) c.9844C= (p.Gln3282=) c.2311C= (p.Gln771=) n.2022C= c.9895C= (p.Gln3299=) c.9903C= (n.9903C=) n.483C= c.9799C= (p.Gln3267=) | |
| 13 | g.32398408C>G | CA387766881 | BRCA2 | c.*418C>G (n.*418C>G) c.*1262C>G (n.*1262C>G) c.9526C>G (p.Gln3176Glu) c.*1457C>G (n.*1457C>G) c.9844C>G (p.Gln3282Glu) c.2311C>G (p.Gln771Glu) n.2022C>G c.9895C>G (p.Gln3299Glu) c.9903C>G (n.9903C>G) n.483C>G c.9799C>G (p.Gln3267Glu) | dbSNP |
| 13 | g.32398408C>T | CA387766882 | BRCA2 | c.*418C>T (n.*418C>T) c.*1262C>T (n.*1262C>T) c.9526C>T (p.Gln3176Ter) c.*1457C>T (n.*1457C>T) c.9844C>T (p.Gln3282Ter) c.2311C>T (p.Gln771Ter) n.2022C>T c.9895C>T (p.Gln3299Ter) c.9903C>T (n.9903C>T) n.483C>T c.9799C>T (p.Gln3267Ter) | ClinVar dbSNP |
| 13 | g.32398409A= | CA2082835807 | BRCA2 | c.*419A= (n.*419A=) c.*1263A= (n.*1263A=) c.9527A= (p.Gln3176=) c.*1458A= (n.*1458A=) c.9845A= (p.Gln3282=) c.2312A= (p.Gln771=) n.2023A= c.9896A= (p.Gln3299=) c.9904A= (n.9904A=) n.484A= c.9800A= (p.Gln3267=) | |
| 13 | g.32398409A>C | CA026324 | BRCA2 | c.*419A>C (n.*419A>C) c.*1263A>C (n.*1263A>C) c.9527A>C (p.Gln3176Pro) c.*1458A>C (n.*1458A>C) c.9845A>C (p.Gln3282Pro) c.2312A>C (p.Gln771Pro) n.2023A>C c.9896A>C (p.Gln3299Pro) c.9904A>C (n.9904A>C) n.484A>C c.9800A>C (p.Gln3267Pro) | ClinVar dbSNP |
| 13 | g.32398409A>G | CA387766885 | BRCA2 | c.*419A>G (n.*419A>G) c.*1263A>G (n.*1263A>G) c.9527A>G (p.Gln3176Arg) c.*1458A>G (n.*1458A>G) c.9845A>G (p.Gln3282Arg) c.2312A>G (p.Gln771Arg) n.2023A>G c.9896A>G (p.Gln3299Arg) c.9904A>G (n.9904A>G) n.484A>G c.9800A>G (p.Gln3267Arg) | dbSNP |
| 13 | g.32398409A>T | CA387766890 | BRCA2 | c.*419A>T (n.*419A>T) c.*1263A>T (n.*1263A>T) c.9527A>T (p.Gln3176Leu) c.*1458A>T (n.*1458A>T) c.9845A>T (p.Gln3282Leu) c.2312A>T (p.Gln771Leu) n.2023A>T c.9896A>T (p.Gln3299Leu) c.9904A>T (n.9904A>T) n.484A>T c.9800A>T (p.Gln3267Leu) | dbSNP |
| 13 | g.32398410G>A | CA483439976 | BRCA2 | c.*420G>A (n.*420G>A) c.*1264G>A (n.*1264G>A) c.9528G>A (p.Gln3176=) c.*1459G>A (n.*1459G>A) c.9846G>A (p.Gln3282=) c.2313G>A (p.Gln771=) n.2024G>A c.9897G>A (p.Gln3299=) c.9905G>A (n.9905G>A) n.485G>A c.9801G>A (p.Gln3267=) | ClinVar dbSNP |
| 13 | g.32398410G>C | CA387766897 | BRCA2 | c.*420G>C (n.*420G>C) c.*1264G>C (n.*1264G>C) c.9528G>C (p.Gln3176His) c.*1459G>C (n.*1459G>C) c.9846G>C (p.Gln3282His) c.2313G>C (p.Gln771His) n.2024G>C c.9897G>C (p.Gln3299His) c.9905G>C (n.9905G>C) n.485G>C c.9801G>C (p.Gln3267His) | |
| 13 | g.32398410G= | CA2082835810 | BRCA2 | c.*420G= (n.*420G=) c.*1264G= (n.*1264G=) c.9528G= (p.Gln3176=) c.*1459G= (n.*1459G=) c.9846G= (p.Gln3282=) c.2313G= (p.Gln771=) n.2024G= c.9897G= (p.Gln3299=) c.9905G= (n.9905G=) n.485G= c.9801G= (p.Gln3267=) | |
| 13 | g.32398410G>T | CA16622065 | BRCA2 | c.*420G>T (n.*420G>T) c.*1264G>T (n.*1264G>T) c.9528G>T (p.Gln3176His) c.*1459G>T (n.*1459G>T) c.9846G>T (p.Gln3282His) c.2313G>T (p.Gln771His) n.2024G>T c.9897G>T (p.Gln3299His) c.9905G>T (n.9905G>T) n.485G>T c.9801G>T (p.Gln3267His) | |
| 13 | g.32398411C>A | CA6941451 | BRCA2 | c.*421C>A (n.*421C>A) c.*1265C>A (n.*1265C>A) c.9529C>A (p.Pro3177Thr) c.*1460C>A (n.*1460C>A) c.9847C>A (p.Pro3283Thr) c.2314C>A (p.Pro772Thr) n.2025C>A c.9898C>A (p.Pro3300Thr) c.9906C>A (n.9906C>A) n.486C>A c.9802C>A (p.Pro3268Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398411C= | CA2082835821 | BRCA2 | c.*421C= (n.*421C=) c.*1265C= (n.*1265C=) c.9529C= (p.Pro3177=) c.*1460C= (n.*1460C=) c.9847C= (p.Pro3283=) c.2314C= (p.Pro772=) n.2025C= c.9898C= (p.Pro3300=) c.9906C= (n.9906C=) n.486C= c.9802C= (p.Pro3268=) | |
| 13 | g.32398411C>G | CA387766902 | BRCA2 | c.*421C>G (n.*421C>G) c.*1265C>G (n.*1265C>G) c.9529C>G (p.Pro3177Ala) c.*1460C>G (n.*1460C>G) c.9847C>G (p.Pro3283Ala) c.2314C>G (p.Pro772Ala) n.2025C>G c.9898C>G (p.Pro3300Ala) c.9906C>G (n.9906C>G) n.486C>G c.9802C>G (p.Pro3268Ala) | dbSNP |