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.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 |
13 | g.32398411C>T | CA6941452 | BRCA2 | c.*421C>T (n.*421C>T) c.*1265C>T (n.*1265C>T) c.9529C>T (p.Pro3177Ser) c.*1460C>T (n.*1460C>T) c.9847C>T (p.Pro3283Ser) c.2314C>T (p.Pro772Ser) n.2025C>T c.9898C>T (p.Pro3300Ser) c.9906C>T (n.9906C>T) n.486C>T c.9802C>T (p.Pro3268Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32398412C>A | CA247509151 | BRCA2 | c.*422C>A (n.*422C>A) c.*1266C>A (n.*1266C>A) c.9530C>A (p.Pro3177Gln) c.*1461C>A (n.*1461C>A) c.9848C>A (p.Pro3283Gln) c.2315C>A (p.Pro772Gln) n.2026C>A c.9899C>A (p.Pro3300Gln) c.9907C>A (n.9907C>A) n.487C>A c.9803C>A (p.Pro3268Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32398412C= | CA2082835827 | BRCA2 | c.*422C= (n.*422C=) c.*1266C= (n.*1266C=) c.9530C= (p.Pro3177=) c.*1461C= (n.*1461C=) c.9848C= (p.Pro3283=) c.2315C= (p.Pro772=) n.2026C= c.9899C= (p.Pro3300=) c.9907C= (n.9907C=) n.487C= c.9803C= (p.Pro3268=) | |
13 | g.32398412C>G | CA387766913 | BRCA2 | c.*422C>G (n.*422C>G) c.*1266C>G (n.*1266C>G) c.9530C>G (p.Pro3177Arg) c.*1461C>G (n.*1461C>G) c.9848C>G (p.Pro3283Arg) c.2315C>G (p.Pro772Arg) n.2026C>G c.9899C>G (p.Pro3300Arg) c.9907C>G (n.9907C>G) n.487C>G c.9803C>G (p.Pro3268Arg) | dbSNP |
13 | g.32398412C>T | CA387766910 | BRCA2 | c.*422C>T (n.*422C>T) c.*1266C>T (n.*1266C>T) c.9530C>T (p.Pro3177Leu) c.*1461C>T (n.*1461C>T) c.9848C>T (p.Pro3283Leu) c.2315C>T (p.Pro772Leu) n.2026C>T c.9899C>T (p.Pro3300Leu) c.9907C>T (n.9907C>T) n.487C>T c.9803C>T (p.Pro3268Leu) | ClinVar dbSNP |
13 | g.32398413A= | CA2082835837 | BRCA2 | c.*423A= (n.*423A=) c.*1267A= (n.*1267A=) c.9531A= (p.Pro3177=) c.*1462A= (n.*1462A=) c.9849A= (p.Pro3283=) c.2316A= (p.Pro772=) n.2027A= c.9900A= (p.Pro3300=) c.9908A= (n.9908A=) n.488A= c.9804A= (p.Pro3268=) | |
13 | g.32398413A>C | CA483439978 | BRCA2 | c.*423A>C (n.*423A>C) c.*1267A>C (n.*1267A>C) c.9531A>C (p.Pro3177=) c.*1462A>C (n.*1462A>C) c.9849A>C (p.Pro3283=) c.2316A>C (p.Pro772=) n.2027A>C c.9900A>C (p.Pro3300=) c.9908A>C (n.9908A>C) n.488A>C c.9804A>C (p.Pro3268=) | ClinVar dbSNP |
13 | g.32398413A>G | CA483439979 | BRCA2 | c.*423A>G (n.*423A>G) c.*1267A>G (n.*1267A>G) c.9531A>G (p.Pro3177=) c.*1462A>G (n.*1462A>G) c.9849A>G (p.Pro3283=) c.2316A>G (p.Pro772=) n.2027A>G c.9900A>G (p.Pro3300=) c.9908A>G (n.9908A>G) n.488A>G c.9804A>G (p.Pro3268=) | |
13 | g.32398413A>T | CA483439980 | BRCA2 | c.*423A>T (n.*423A>T) c.*1267A>T (n.*1267A>T) c.9531A>T (p.Pro3177=) c.*1462A>T (n.*1462A>T) c.9849A>T (p.Pro3283=) c.2316A>T (p.Pro772=) n.2027A>T c.9900A>T (p.Pro3300=) c.9908A>T (n.9908A>T) n.488A>T c.9804A>T (p.Pro3268=) | dbSNP |
13 | g.32398413_32398414delinsAC | CA2082835833 | BRCA2 | c.*423_*424delinsAC (n.*423_*424delinsAC) c.*1267_*1268delinsAC (n.*1267_*1268delinsAC) c.9531_9532delinsAC (p.Pro3177=) c.*1462_*1463delinsAC (n.*1462_*1463delinsAC) c.9849_9850delinsAC (p.Pro3283=) c.2316_2317delinsAC (p.Pro772=) n.2027_2028delinsAC c.9900_9901delinsAC (p.Pro3300=) c.9908_9909delinsAC (n.9908_9909delinsAC) n.488_489delinsAC c.9804_9805delinsAC (p.Pro3268=) | |
13 | g.32398414C>A | CA387766915 | BRCA2 | c.*424C>A (n.*424C>A) c.*1268C>A (n.*1268C>A) c.9532C>A (p.Pro3178Thr) c.*1463C>A (n.*1463C>A) c.9850C>A (p.Pro3284Thr) c.2317C>A (p.Pro773Thr) n.2028C>A c.9901C>A (p.Pro3301Thr) c.9909C>A (n.9909C>A) n.489C>A c.9805C>A (p.Pro3269Thr) | dbSNP |
13 | g.32398414C= | CA2082835851 | BRCA2 | c.*424C= (n.*424C=) c.*1268C= (n.*1268C=) c.9532C= (p.Pro3178=) c.*1463C= (n.*1463C=) c.9850C= (p.Pro3284=) c.2317C= (p.Pro773=) n.2028C= c.9901C= (p.Pro3301=) c.9909C= (n.9909C=) n.489C= c.9805C= (p.Pro3269=) | |
13 | g.32398414C>G | CA387766918 | BRCA2 | c.*424C>G (n.*424C>G) c.*1268C>G (n.*1268C>G) c.9532C>G (p.Pro3178Ala) c.*1463C>G (n.*1463C>G) c.9850C>G (p.Pro3284Ala) c.2317C>G (p.Pro773Ala) n.2028C>G c.9901C>G (p.Pro3301Ala) c.9909C>G (n.9909C>G) n.489C>G c.9805C>G (p.Pro3269Ala) | dbSNP |
13 | g.32398414C>T | CA387766922 | BRCA2 | c.*424C>T (n.*424C>T) c.*1268C>T (n.*1268C>T) c.9532C>T (p.Pro3178Ser) c.*1463C>T (n.*1463C>T) c.9850C>T (p.Pro3284Ser) c.2317C>T (p.Pro773Ser) n.2028C>T c.9901C>T (p.Pro3301Ser) c.9909C>T (n.9909C>T) n.489C>T c.9805C>T (p.Pro3269Ser) | ClinVar dbSNP |
13 | g.32398415del | CA697350101 | BRCA2 | c.*425del (n.*425del) c.*1269del (n.*1269del) c.9533del (p.Pro3178GlnfsTer12) c.*1464del (n.*1464del) c.9851del (p.Pro3284GlnfsTer12) c.2318del (p.Pro773GlnfsTer12) n.2029del c.9902del (p.Pro3301GlnfsTer12) c.9910del (n.9910del) n.490del c.9806del (p.Pro3269GlnfsTer12) | ClinVar dbSNP |
13 | g.32398414_32398415insA | CA658761189 | BRCA2 | c.*424_*425insA (n.*424_*425insA) c.*1268_*1269insA (n.*1268_*1269insA) c.9532_9533insA (p.Pro3178HisfsTer26) c.*1463_*1464insA (n.*1463_*1464insA) c.9850_9851insA (p.Pro3284HisfsTer26) c.2317_2318insA (p.Pro773HisfsTer26) n.2028_2029insA c.9901_9902insA (p.Pro3301HisfsTer26) c.9909_9910insA (n.9909_9910insA) n.489_490insA c.9805_9806insA (p.Pro3269HisfsTer26) | |
13 | g.32398415C>A | CA387766926 | BRCA2 | c.*425C>A (n.*425C>A) c.*1269C>A (n.*1269C>A) c.9533C>A (p.Pro3178Gln) c.*1464C>A (n.*1464C>A) c.9851C>A (p.Pro3284Gln) c.2318C>A (p.Pro773Gln) n.2029C>A c.9902C>A (p.Pro3301Gln) c.9910C>A (n.9910C>A) n.490C>A c.9806C>A (p.Pro3269Gln) | dbSNP |
13 | g.32398415C= | CA2082835854 | BRCA2 | c.*425C= (n.*425C=) c.*1269C= (n.*1269C=) c.9533C= (p.Pro3178=) c.*1464C= (n.*1464C=) c.9851C= (p.Pro3284=) c.2318C= (p.Pro773=) n.2029C= c.9902C= (p.Pro3301=) c.9910C= (n.9910C=) n.490C= c.9806C= (p.Pro3269=) | |
13 | g.32398415C>G | CA387766929 | BRCA2 | c.*425C>G (n.*425C>G) c.*1269C>G (n.*1269C>G) c.9533C>G (p.Pro3178Arg) c.*1464C>G (n.*1464C>G) c.9851C>G (p.Pro3284Arg) c.2318C>G (p.Pro773Arg) n.2029C>G c.9902C>G (p.Pro3301Arg) c.9910C>G (n.9910C>G) n.490C>G c.9806C>G (p.Pro3269Arg) | ClinVar dbSNP |
13 | g.32398415C>T | CA387766931 | BRCA2 | c.*425C>T (n.*425C>T) c.*1269C>T (n.*1269C>T) c.9533C>T (p.Pro3178Leu) c.*1464C>T (n.*1464C>T) c.9851C>T (p.Pro3284Leu) c.2318C>T (p.Pro773Leu) n.2029C>T c.9902C>T (p.Pro3301Leu) c.9910C>T (n.9910C>T) n.490C>T c.9806C>T (p.Pro3269Leu) | ClinVar dbSNP |
13 | g.32398416A= | CA2082835859 | BRCA2 | c.*426A= (n.*426A=) c.*1270A= (n.*1270A=) c.9534A= (p.Pro3178=) c.*1465A= (n.*1465A=) c.9852A= (p.Pro3284=) c.2319A= (p.Pro773=) n.2030A= c.9903A= (p.Pro3301=) c.9911A= (n.9911A=) n.491A= c.9807A= (p.Pro3269=) | |
13 | g.32398416A>C | CA483439984 | BRCA2 | c.*426A>C (n.*426A>C) c.*1270A>C (n.*1270A>C) c.9534A>C (p.Pro3178=) c.*1465A>C (n.*1465A>C) c.9852A>C (p.Pro3284=) c.2319A>C (p.Pro773=) n.2030A>C c.9903A>C (p.Pro3301=) c.9911A>C (n.9911A>C) n.491A>C c.9807A>C (p.Pro3269=) | ClinVar dbSNP |
13 | g.32398416A>G | CA483439985 | BRCA2 | c.*426A>G (n.*426A>G) c.*1270A>G (n.*1270A>G) c.9534A>G (p.Pro3178=) c.*1465A>G (n.*1465A>G) c.9852A>G (p.Pro3284=) c.2319A>G (p.Pro773=) n.2030A>G c.9903A>G (p.Pro3301=) c.9911A>G (n.9911A>G) n.491A>G c.9807A>G (p.Pro3269=) | dbSNP |
13 | g.32398416A>T | CA483439986 | BRCA2 | c.*426A>T (n.*426A>T) c.*1270A>T (n.*1270A>T) c.9534A>T (p.Pro3178=) c.*1465A>T (n.*1465A>T) c.9852A>T (p.Pro3284=) c.2319A>T (p.Pro773=) n.2030A>T c.9903A>T (p.Pro3301=) c.9911A>T (n.9911A>T) n.491A>T c.9807A>T (p.Pro3269=) | dbSNP |
13 | g.32398417A= | CA2082835865 | BRCA2 | c.*427A= (n.*427A=) c.*1271A= (n.*1271A=) c.9535A= (p.Arg3179=) c.*1466A= (n.*1466A=) c.9853A= (p.Arg3285=) c.2320A= (p.Arg774=) n.2031A= c.9904A= (p.Arg3302=) c.9912A= (n.9912A=) n.492A= c.9808A= (p.Arg3270=) | |
13 | g.32398417A>C | CA026325 | BRCA2 | c.*427A>C (n.*427A>C) c.*1271A>C (n.*1271A>C) c.9535A>C (p.Arg3179=) c.*1466A>C (n.*1466A>C) c.9853A>C (p.Arg3285=) c.2320A>C (p.Arg774=) n.2031A>C c.9904A>C (p.Arg3302=) c.9912A>C (n.9912A>C) n.492A>C c.9808A>C (p.Arg3270=) | ClinVar dbSNP |
13 | g.32398417A>G | CA6941453 | BRCA2 | c.*427A>G (n.*427A>G) c.*1271A>G (n.*1271A>G) c.9535A>G (p.Arg3179Gly) c.*1466A>G (n.*1466A>G) c.9853A>G (p.Arg3285Gly) c.2320A>G (p.Arg774Gly) n.2031A>G c.9904A>G (p.Arg3302Gly) c.9912A>G (n.9912A>G) n.492A>G c.9808A>G (p.Arg3270Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32398417A>T | CA387766940 | BRCA2 | c.*427A>T (n.*427A>T) c.*1271A>T (n.*1271A>T) c.9535A>T (p.Arg3179Trp) c.*1466A>T (n.*1466A>T) c.9853A>T (p.Arg3285Trp) c.2320A>T (p.Arg774Trp) n.2031A>T c.9904A>T (p.Arg3302Trp) c.9912A>T (n.9912A>T) n.492A>T c.9808A>T (p.Arg3270Trp) | dbSNP |
13 | g.32398418G>A | CA026326 | BRCA2 | c.*428G>A (n.*428G>A) c.*1272G>A (n.*1272G>A) c.9536G>A (p.Arg3179Lys) c.*1467G>A (n.*1467G>A) c.9854G>A (p.Arg3285Lys) c.2321G>A (p.Arg774Lys) n.2032G>A c.9905G>A (p.Arg3302Lys) c.9913G>A (n.9913G>A) n.493G>A c.9809G>A (p.Arg3270Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398418G>C | CA387766942 | BRCA2 | c.*428G>C (n.*428G>C) c.*1272G>C (n.*1272G>C) c.9536G>C (p.Arg3179Thr) c.*1467G>C (n.*1467G>C) c.9854G>C (p.Arg3285Thr) c.2321G>C (p.Arg774Thr) n.2032G>C c.9905G>C (p.Arg3302Thr) c.9913G>C (n.9913G>C) n.493G>C c.9809G>C (p.Arg3270Thr) | ClinVar |
13 | g.32398418G= | CA2082835872 | BRCA2 | c.*428G= (n.*428G=) c.*1272G= (n.*1272G=) c.9536G= (p.Arg3179=) c.*1467G= (n.*1467G=) c.9854G= (p.Arg3285=) c.2321G= (p.Arg774=) n.2032G= c.9905G= (p.Arg3302=) c.9913G= (n.9913G=) n.493G= c.9809G= (p.Arg3270=) | |
13 | g.32398418G>T | CA387766946 | BRCA2 | c.*428G>T (n.*428G>T) c.*1272G>T (n.*1272G>T) c.9536G>T (p.Arg3179Met) c.*1467G>T (n.*1467G>T) c.9854G>T (p.Arg3285Met) c.2321G>T (p.Arg774Met) n.2032G>T c.9905G>T (p.Arg3302Met) c.9913G>T (n.9913G>T) n.493G>T c.9809G>T (p.Arg3270Met) | |
13 | g.32398419G>A | CA483439989 | BRCA2 | c.*429G>A (n.*429G>A) c.*1273G>A (n.*1273G>A) c.9537G>A (p.Arg3179=) c.*1468G>A (n.*1468G>A) c.9855G>A (p.Arg3285=) c.2322G>A (p.Arg774=) n.2033G>A c.9906G>A (p.Arg3302=) c.9914G>A (n.9914G>A) n.494G>A c.9810G>A (p.Arg3270=) | dbSNP |
13 | g.32398419G>C | CA387766965 | BRCA2 | c.*429G>C (n.*429G>C) c.*1273G>C (n.*1273G>C) c.9537G>C (p.Arg3179Ser) c.*1468G>C (n.*1468G>C) c.9855G>C (p.Arg3285Ser) c.2322G>C (p.Arg774Ser) n.2033G>C c.9906G>C (p.Arg3302Ser) c.9914G>C (n.9914G>C) n.494G>C c.9810G>C (p.Arg3270Ser) | ClinVar dbSNP |
13 | g.32398419G= | CA2082835891 | BRCA2 | c.*429G= (n.*429G=) c.*1273G= (n.*1273G=) c.9537G= (p.Arg3179=) c.*1468G= (n.*1468G=) c.9855G= (p.Arg3285=) c.2322G= (p.Arg774=) n.2033G= c.9906G= (p.Arg3302=) c.9914G= (n.9914G=) n.494G= c.9810G= (p.Arg3270=) | |
13 | g.32398419G>T | CA026327 | BRCA2 | c.*429G>T (n.*429G>T) c.*1273G>T (n.*1273G>T) c.9537G>T (p.Arg3179Ser) c.*1468G>T (n.*1468G>T) c.9855G>T (p.Arg3285Ser) c.2322G>T (p.Arg774Ser) n.2033G>T c.9906G>T (p.Arg3302Ser) c.9914G>T (n.9914G>T) n.494G>T c.9810G>T (p.Arg3270Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.32398419_32398420delinsGA | CA2082835908 | BRCA2 | c.*429_*430delinsGA (n.*429_*430delinsGA) c.*1273_*1274delinsGA (n.*1273_*1274delinsGA) c.9537_9538delinsGA (p.Arg3179=) c.*1468_*1469delinsGA (n.*1468_*1469delinsGA) c.9855_9856delinsGA (p.Arg3285=) c.2322_2323delinsGA (p.Arg774=) n.2033_2034delinsGA c.9906_9907delinsGA (p.Arg3302=) c.9914_9915delinsGA (n.9914_9915delinsGA) n.494_495delinsGA c.9810_9811delinsGA (p.Arg3270=) | |
13 | g.32398419_32398420delinsTT | CA10579849 | BRCA2 | c.*429_*430delinsTT (n.*429_*430delinsTT) c.*1273_*1274delinsTT (n.*1273_*1274delinsTT) c.9537_9538delinsTT (p.Arg3179_Ser3180delinsSerCys) c.*1468_*1469delinsTT (n.*1468_*1469delinsTT) c.9855_9856delinsTT (p.Arg3285_Ser3286delinsSerCys) c.2322_2323delinsTT (p.Arg774_Ser775delinsSerCys) n.2033_2034delinsTT c.9906_9907delinsTT (p.Arg3302_Ser3303delinsSerCys) c.9914_9915delinsTT (n.9914_9915delinsTT) n.494_495delinsTT c.9810_9811delinsTT (p.Arg3270_Ser3271delinsSerCys) | ClinVar dbSNP |
13 | g.32398420A= | CA2082835915 | BRCA2 | c.*430A= (n.*430A=) c.*1274A= (n.*1274A=) c.9538A= (p.Ser3180=) c.*1469A= (n.*1469A=) c.9856A= (p.Ser3286=) c.2323A= (p.Ser775=) n.2034A= c.9907A= (p.Ser3303=) c.9915A= (n.9915A=) n.495A= c.9811A= (p.Ser3271=) | |
13 | g.32398420A>C | CA387766971 | BRCA2 | c.*430A>C (n.*430A>C) c.*1274A>C (n.*1274A>C) c.9538A>C (p.Ser3180Arg) c.*1469A>C (n.*1469A>C) c.9856A>C (p.Ser3286Arg) c.2323A>C (p.Ser775Arg) n.2034A>C c.9907A>C (p.Ser3303Arg) c.9915A>C (n.9915A>C) n.495A>C c.9811A>C (p.Ser3271Arg) | |
13 | g.32398420A>G | CA387766968 | BRCA2 | c.*430A>G (n.*430A>G) c.*1274A>G (n.*1274A>G) c.9538A>G (p.Ser3180Gly) c.*1469A>G (n.*1469A>G) c.9856A>G (p.Ser3286Gly) c.2323A>G (p.Ser775Gly) n.2034A>G c.9907A>G (p.Ser3303Gly) c.9915A>G (n.9915A>G) n.495A>G c.9811A>G (p.Ser3271Gly) | |
13 | g.32398420A>T | CA026328 | BRCA2 | c.*430A>T (n.*430A>T) c.*1274A>T (n.*1274A>T) c.9538A>T (p.Ser3180Cys) c.*1469A>T (n.*1469A>T) c.9856A>T (p.Ser3286Cys) c.2323A>T (p.Ser775Cys) n.2034A>T c.9907A>T (p.Ser3303Cys) c.9915A>T (n.9915A>T) n.495A>T c.9811A>T (p.Ser3271Cys) | ClinVar dbSNP gnomAD v4 |
13 | g.32398421G>A | CA387766975 | BRCA2 | c.*431G>A (n.*431G>A) c.*1275G>A (n.*1275G>A) c.9539G>A (p.Ser3180Asn) c.*1470G>A (n.*1470G>A) c.9857G>A (p.Ser3286Asn) c.2324G>A (p.Ser775Asn) n.2035G>A c.9908G>A (p.Ser3303Asn) c.9916G>A (n.9916G>A) n.496G>A c.9812G>A (p.Ser3271Asn) | ClinVar dbSNP |
13 | g.32398421G>C | CA387766978 | BRCA2 | c.*431G>C (n.*431G>C) c.*1275G>C (n.*1275G>C) c.9539G>C (p.Ser3180Thr) c.*1470G>C (n.*1470G>C) c.9857G>C (p.Ser3286Thr) c.2324G>C (p.Ser775Thr) n.2035G>C c.9908G>C (p.Ser3303Thr) c.9916G>C (n.9916G>C) n.496G>C c.9812G>C (p.Ser3271Thr) | dbSNP |
13 | g.32398421G>T | CA387766981 | BRCA2 | c.*431G>T (n.*431G>T) c.*1275G>T (n.*1275G>T) c.9539G>T (p.Ser3180Ile) c.*1470G>T (n.*1470G>T) c.9857G>T (p.Ser3286Ile) c.2324G>T (p.Ser775Ile) n.2035G>T c.9908G>T (p.Ser3303Ile) c.9916G>T (n.9916G>T) n.496G>T c.9812G>T (p.Ser3271Ile) | |
13 | g.32398422T>A | CA387766985 | BRCA2 | c.*432T>A (n.*432T>A) c.*1276T>A (n.*1276T>A) c.9540T>A (p.Ser3180Arg) c.*1471T>A (n.*1471T>A) c.9858T>A (p.Ser3286Arg) c.2325T>A (p.Ser775Arg) n.2036T>A c.9909T>A (p.Ser3303Arg) c.9917T>A (n.9917T>A) n.497T>A c.9813T>A (p.Ser3271Arg) | gnomAD v4 |
13 | g.32398422T>C | CA6941454 | BRCA2 | c.*432T>C (n.*432T>C) c.*1276T>C (n.*1276T>C) c.9540T>C (p.Ser3180=) c.*1471T>C (n.*1471T>C) c.9858T>C (p.Ser3286=) c.2325T>C (p.Ser775=) n.2036T>C c.9909T>C (p.Ser3303=) c.9917T>C (n.9917T>C) n.497T>C c.9813T>C (p.Ser3271=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32398422T>G | CA387766989 | BRCA2 | c.*432T>G (n.*432T>G) c.*1276T>G (n.*1276T>G) c.9540T>G (p.Ser3180Arg) c.*1471T>G (n.*1471T>G) c.9858T>G (p.Ser3286Arg) c.2325T>G (p.Ser775Arg) n.2036T>G c.9909T>G (p.Ser3303Arg) c.9917T>G (n.9917T>G) n.497T>G c.9813T>G (p.Ser3271Arg) | dbSNP |
13 | g.32398422T= | CA2082835921 | BRCA2 | c.*432T= (n.*432T=) c.*1276T= (n.*1276T=) c.9540T= (p.Ser3180=) c.*1471T= (n.*1471T=) c.9858T= (p.Ser3286=) c.2325T= (p.Ser775=) n.2036T= c.9909T= (p.Ser3303=) c.9917T= (n.9917T=) n.497T= c.9813T= (p.Ser3271=) | |
13 | g.32398423T>A | CA387767000 | BRCA2 | c.*433T>A (n.*433T>A) c.*1277T>A (n.*1277T>A) c.9541T>A (p.Cys3181Ser) c.*1472T>A (n.*1472T>A) c.9859T>A (p.Cys3287Ser) c.2326T>A (p.Cys776Ser) n.2037T>A c.9910T>A (p.Cys3304Ser) c.9918T>A (n.9918T>A) n.498T>A c.9814T>A (p.Cys3272Ser) | dbSNP |
13 | g.32398423T>C | CA387766995 | BRCA2 | c.*433T>C (n.*433T>C) c.*1277T>C (n.*1277T>C) c.9541T>C (p.Cys3181Arg) c.*1472T>C (n.*1472T>C) c.9859T>C (p.Cys3287Arg) c.2326T>C (p.Cys776Arg) n.2037T>C c.9910T>C (p.Cys3304Arg) c.9918T>C (n.9918T>C) n.498T>C c.9814T>C (p.Cys3272Arg) | dbSNP |
13 | g.32398423T>G | CA387766998 | BRCA2 | c.*433T>G (n.*433T>G) c.*1277T>G (n.*1277T>G) c.9541T>G (p.Cys3181Gly) c.*1472T>G (n.*1472T>G) c.9859T>G (p.Cys3287Gly) c.2326T>G (p.Cys776Gly) n.2037T>G c.9910T>G (p.Cys3304Gly) c.9918T>G (n.9918T>G) n.498T>G c.9814T>G (p.Cys3272Gly) | ClinVar |
13 | g.32398424G>A | CA10579850 | BRCA2 | c.*434G>A (n.*434G>A) c.*1278G>A (n.*1278G>A) c.9542G>A (p.Cys3181Tyr) c.*1473G>A (n.*1473G>A) c.9860G>A (p.Cys3287Tyr) c.2327G>A (p.Cys776Tyr) n.2038G>A c.9911G>A (p.Cys3304Tyr) c.9919G>A (n.9919G>A) n.499G>A c.9815G>A (p.Cys3272Tyr) | ClinVar dbSNP |
13 | g.32398424G>C | CA387767001 | BRCA2 | c.*434G>C (n.*434G>C) c.*1278G>C (n.*1278G>C) c.9542G>C (p.Cys3181Ser) c.*1473G>C (n.*1473G>C) c.9860G>C (p.Cys3287Ser) c.2327G>C (p.Cys776Ser) n.2038G>C c.9911G>C (p.Cys3304Ser) c.9919G>C (n.9919G>C) n.499G>C c.9815G>C (p.Cys3272Ser) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32398424G= | CA2082835929 | BRCA2 | c.*434G= (n.*434G=) c.*1278G= (n.*1278G=) c.9542G= (p.Cys3181=) c.*1473G= (n.*1473G=) c.9860G= (p.Cys3287=) c.2327G= (p.Cys776=) n.2038G= c.9911G= (p.Cys3304=) c.9919G= (n.9919G=) n.499G= c.9815G= (p.Cys3272=) | |
13 | g.32398424G>T | CA387767003 | BRCA2 | c.*434G>T (n.*434G>T) c.*1278G>T (n.*1278G>T) c.9542G>T (p.Cys3181Phe) c.*1473G>T (n.*1473G>T) c.9860G>T (p.Cys3287Phe) c.2327G>T (p.Cys776Phe) n.2038G>T c.9911G>T (p.Cys3304Phe) c.9919G>T (n.9919G>T) n.499G>T c.9815G>T (p.Cys3272Phe) | dbSNP |
13 | g.32398425T>A | CA387767005 | BRCA2 | c.*435T>A (n.*435T>A) c.*1279T>A (n.*1279T>A) c.9543T>A (p.Cys3181Ter) c.*1474T>A (n.*1474T>A) c.9861T>A (p.Cys3287Ter) c.2328T>A (p.Cys776Ter) n.2039T>A c.9912T>A (p.Cys3304Ter) c.9920T>A (n.9920T>A) n.500T>A c.9816T>A (p.Cys3272Ter) | |
13 | g.32398425T>C | CA483439997 | BRCA2 | c.*435T>C (n.*435T>C) c.*1279T>C (n.*1279T>C) c.9543T>C (p.Cys3181=) c.*1474T>C (n.*1474T>C) c.9861T>C (p.Cys3287=) c.2328T>C (p.Cys776=) n.2039T>C c.9912T>C (p.Cys3304=) c.9920T>C (n.9920T>C) n.500T>C c.9816T>C (p.Cys3272=) | ClinVar dbSNP |
13 | g.32398425T>G | CA387767008 | BRCA2 | c.*435T>G (n.*435T>G) c.*1279T>G (n.*1279T>G) c.9543T>G (p.Cys3181Trp) c.*1474T>G (n.*1474T>G) c.9861T>G (p.Cys3287Trp) c.2328T>G (p.Cys776Trp) n.2039T>G c.9912T>G (p.Cys3304Trp) c.9920T>G (n.9920T>G) n.500T>G c.9816T>G (p.Cys3272Trp) | |
13 | g.32398425T= | CA2082835934 | BRCA2 | c.*435T= (n.*435T=) c.*1279T= (n.*1279T=) c.9543T= (p.Cys3181=) c.*1474T= (n.*1474T=) c.9861T= (p.Cys3287=) c.2328T= (p.Cys776=) n.2039T= c.9912T= (p.Cys3304=) c.9920T= (n.9920T=) n.500T= c.9816T= (p.Cys3272=) | |
13 | g.32398426G>A | CA026329 | BRCA2 | c.*436G>A (n.*436G>A) c.*1280G>A (n.*1280G>A) c.9544G>A (p.Gly3182Ser) c.*1475G>A (n.*1475G>A) c.9862G>A (p.Gly3288Ser) c.2329G>A (p.Gly777Ser) n.2040G>A c.9913G>A (p.Gly3305Ser) c.9921G>A (n.9921G>A) n.501G>A c.9817G>A (p.Gly3273Ser) | ClinVar dbSNP |
13 | g.32398426G>C | CA387767014 | BRCA2 | c.*436G>C (n.*436G>C) c.*1280G>C (n.*1280G>C) c.9544G>C (p.Gly3182Arg) c.*1475G>C (n.*1475G>C) c.9862G>C (p.Gly3288Arg) c.2329G>C (p.Gly777Arg) n.2040G>C c.9913G>C (p.Gly3305Arg) c.9921G>C (n.9921G>C) n.501G>C c.9817G>C (p.Gly3273Arg) | dbSNP |
13 | g.32398426G= | CA2082835935 | BRCA2 | c.*436G= (n.*436G=) c.*1280G= (n.*1280G=) c.9544G= (p.Gly3182=) c.*1475G= (n.*1475G=) c.9862G= (p.Gly3288=) c.2329G= (p.Gly777=) n.2040G= c.9913G= (p.Gly3305=) c.9921G= (n.9921G=) n.501G= c.9817G= (p.Gly3273=) | |
13 | g.32398426G>T | CA387767013 | BRCA2 | c.*436G>T (n.*436G>T) c.*1280G>T (n.*1280G>T) c.9544G>T (p.Gly3182Cys) c.*1475G>T (n.*1475G>T) c.9862G>T (p.Gly3288Cys) c.2329G>T (p.Gly777Cys) n.2040G>T c.9913G>T (p.Gly3305Cys) c.9921G>T (n.9921G>T) n.501G>T c.9817G>T (p.Gly3273Cys) | |
13 | g.32398427G>A | CA026330 | BRCA2 | c.*437G>A (n.*437G>A) c.*1281G>A (n.*1281G>A) c.9545G>A (p.Gly3182Asp) c.*1476G>A (n.*1476G>A) c.9863G>A (p.Gly3288Asp) c.2330G>A (p.Gly777Asp) n.2041G>A c.9914G>A (p.Gly3305Asp) c.9922G>A (n.9922G>A) n.502G>A c.9818G>A (p.Gly3273Asp) | ClinVar dbSNP gnomAD v4 |
13 | g.32398427G>C | CA387767018 | BRCA2 | c.*437G>C (n.*437G>C) c.*1281G>C (n.*1281G>C) c.9545G>C (p.Gly3182Ala) c.*1476G>C (n.*1476G>C) c.9863G>C (p.Gly3288Ala) c.2330G>C (p.Gly777Ala) n.2041G>C c.9914G>C (p.Gly3305Ala) c.9922G>C (n.9922G>C) n.502G>C c.9818G>C (p.Gly3273Ala) | dbSNP |
13 | g.32398427G= | CA2082835940 | BRCA2 | c.*437G= (n.*437G=) c.*1281G= (n.*1281G=) c.9545G= (p.Gly3182=) c.*1476G= (n.*1476G=) c.9863G= (p.Gly3288=) c.2330G= (p.Gly777=) n.2041G= c.9914G= (p.Gly3305=) c.9922G= (n.9922G=) n.502G= c.9818G= (p.Gly3273=) | |
13 | g.32398427G>T | CA387767020 | BRCA2 | c.*437G>T (n.*437G>T) c.*1281G>T (n.*1281G>T) c.9545G>T (p.Gly3182Val) c.*1476G>T (n.*1476G>T) c.9863G>T (p.Gly3288Val) c.2330G>T (p.Gly777Val) n.2041G>T c.9914G>T (p.Gly3305Val) c.9922G>T (n.9922G>T) n.502G>T c.9818G>T (p.Gly3273Val) | dbSNP |
13 | g.32398428C>A | CA483440000 | BRCA2 | c.*438C>A (n.*438C>A) c.*1282C>A (n.*1282C>A) c.9546C>A (p.Gly3182=) c.*1477C>A (n.*1477C>A) c.9864C>A (p.Gly3288=) c.2331C>A (p.Gly777=) n.2042C>A c.9915C>A (p.Gly3305=) c.9923C>A (n.9923C>A) n.503C>A c.9819C>A (p.Gly3273=) | dbSNP |
13 | g.32398428C>G | CA483440001 | BRCA2 | c.*438C>G (n.*438C>G) c.*1282C>G (n.*1282C>G) c.9546C>G (p.Gly3182=) c.*1477C>G (n.*1477C>G) c.9864C>G (p.Gly3288=) c.2331C>G (p.Gly777=) n.2042C>G c.9915C>G (p.Gly3305=) c.9923C>G (n.9923C>G) n.503C>G c.9819C>G (p.Gly3273=) | dbSNP |
13 | g.32398428C>T | CA483440002 | BRCA2 | c.*438C>T (n.*438C>T) c.*1282C>T (n.*1282C>T) c.9546C>T (p.Gly3182=) c.*1477C>T (n.*1477C>T) c.9864C>T (p.Gly3288=) c.2331C>T (p.Gly777=) n.2042C>T c.9915C>T (p.Gly3305=) c.9923C>T (n.9923C>T) n.503C>T c.9819C>T (p.Gly3273=) | dbSNP |
13 | g.32398429A= | CA2082835942 | BRCA2 | c.*439A= (n.*439A=) c.*1283A= (n.*1283A=) c.9547A= (p.Thr3183=) c.*1478A= (n.*1478A=) c.9865A= (p.Thr3289=) c.2332A= (p.Thr778=) n.2043A= c.9916A= (p.Thr3306=) c.9924A= (n.9924A=) n.504A= c.9820A= (p.Thr3274=) | |
13 | g.32398429A>C | CA387767023 | BRCA2 | c.*439A>C (n.*439A>C) c.*1283A>C (n.*1283A>C) c.9547A>C (p.Thr3183Pro) c.*1478A>C (n.*1478A>C) c.9865A>C (p.Thr3289Pro) c.2332A>C (p.Thr778Pro) n.2043A>C c.9916A>C (p.Thr3306Pro) c.9924A>C (n.9924A>C) n.504A>C c.9820A>C (p.Thr3274Pro) | dbSNP |
13 | g.32398429A>G | CA6941455 | BRCA2 | c.*439A>G (n.*439A>G) c.*1283A>G (n.*1283A>G) c.9547A>G (p.Thr3183Ala) c.*1478A>G (n.*1478A>G) c.9865A>G (p.Thr3289Ala) c.2332A>G (p.Thr778Ala) n.2043A>G c.9916A>G (p.Thr3306Ala) c.9924A>G (n.9924A>G) n.504A>G c.9820A>G (p.Thr3274Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398429A>T | CA387767028 | BRCA2 | c.*439A>T (n.*439A>T) c.*1283A>T (n.*1283A>T) c.9547A>T (p.Thr3183Ser) c.*1478A>T (n.*1478A>T) c.9865A>T (p.Thr3289Ser) c.2332A>T (p.Thr778Ser) n.2043A>T c.9916A>T (p.Thr3306Ser) c.9924A>T (n.9924A>T) n.504A>T c.9820A>T (p.Thr3274Ser) | |
13 | g.32398430C>A | CA387767033 | BRCA2 | c.*440C>A (n.*440C>A) c.*1284C>A (n.*1284C>A) c.9548C>A (p.Thr3183Asn) c.*1479C>A (n.*1479C>A) c.9866C>A (p.Thr3289Asn) c.2333C>A (p.Thr778Asn) n.2044C>A c.9917C>A (p.Thr3306Asn) c.9925C>A (n.9925C>A) n.505C>A c.9821C>A (p.Thr3274Asn) | ClinVar dbSNP |
13 | g.32398430C= | CA2082835946 | BRCA2 | c.*440C= (n.*440C=) c.*1284C= (n.*1284C=) c.9548C= (p.Thr3183=) c.*1479C= (n.*1479C=) c.9866C= (p.Thr3289=) c.2333C= (p.Thr778=) n.2044C= c.9917C= (p.Thr3306=) c.9925C= (n.9925C=) n.505C= c.9821C= (p.Thr3274=) | |
13 | g.32398430C>G | CA387767036 | BRCA2 | c.*440C>G (n.*440C>G) c.*1284C>G (n.*1284C>G) c.9548C>G (p.Thr3183Ser) c.*1479C>G (n.*1479C>G) c.9866C>G (p.Thr3289Ser) c.2333C>G (p.Thr778Ser) n.2044C>G c.9917C>G (p.Thr3306Ser) c.9925C>G (n.9925C>G) n.505C>G c.9821C>G (p.Thr3274Ser) | dbSNP |
13 | g.32398430C>T | CA026331 | BRCA2 | c.*440C>T (n.*440C>T) c.*1284C>T (n.*1284C>T) c.9548C>T (p.Thr3183Ile) c.*1479C>T (n.*1479C>T) c.9866C>T (p.Thr3289Ile) c.2333C>T (p.Thr778Ile) n.2044C>T c.9917C>T (p.Thr3306Ile) c.9925C>T (n.9925C>T) n.505C>T c.9821C>T (p.Thr3274Ile) | ClinVar dbSNP gnomAD v4 |
13 | g.32398431C>A | CA338394 | BRCA2 | c.*441C>A (n.*441C>A) c.*1285C>A (n.*1285C>A) c.9549C>A (p.Thr3183=) c.*1480C>A (n.*1480C>A) c.9867C>A (p.Thr3289=) c.2334C>A (p.Thr778=) n.2045C>A c.9918C>A (p.Thr3306=) c.9926C>A (n.9926C>A) n.506C>A c.9822C>A (p.Thr3274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398431C= | CA2082835954 | BRCA2 | c.*441C= (n.*441C=) c.*1285C= (n.*1285C=) c.9549C= (p.Thr3183=) c.*1480C= (n.*1480C=) c.9867C= (p.Thr3289=) c.2334C= (p.Thr778=) n.2045C= c.9918C= (p.Thr3306=) c.9926C= (n.9926C=) n.506C= c.9822C= (p.Thr3274=) | |
13 | g.32398431C>G | CA483440003 | BRCA2 | c.*441C>G (n.*441C>G) c.*1285C>G (n.*1285C>G) c.9549C>G (p.Thr3183=) c.*1480C>G (n.*1480C>G) c.9867C>G (p.Thr3289=) c.2334C>G (p.Thr778=) n.2045C>G c.9918C>G (p.Thr3306=) c.9926C>G (n.9926C>G) n.506C>G c.9822C>G (p.Thr3274=) | dbSNP |
13 | g.32398431C>T | CA483440004 | BRCA2 | c.*441C>T (n.*441C>T) c.*1285C>T (n.*1285C>T) c.9549C>T (p.Thr3183=) c.*1480C>T (n.*1480C>T) c.9867C>T (p.Thr3289=) c.2334C>T (p.Thr778=) n.2045C>T c.9918C>T (p.Thr3306=) c.9926C>T (n.9926C>T) n.506C>T c.9822C>T (p.Thr3274=) | ClinVar |
13 | g.32398432A= | CA2082835958 | BRCA2 | c.*442A= (n.*442A=) c.*1286A= (n.*1286A=) c.9550A= (p.Lys3184=) c.*1481A= (n.*1481A=) c.9868A= (p.Lys3290=) c.2335A= (p.Lys779=) n.2046A= c.9919A= (p.Lys3307=) c.9927A= (n.9927A=) n.507A= c.9823A= (p.Lys3275=) | |
13 | g.32398432A>C | CA387767055 | BRCA2 | c.*442A>C (n.*442A>C) c.*1286A>C (n.*1286A>C) c.9550A>C (p.Lys3184Gln) c.*1481A>C (n.*1481A>C) c.9868A>C (p.Lys3290Gln) c.2335A>C (p.Lys779Gln) n.2046A>C c.9919A>C (p.Lys3307Gln) c.9927A>C (n.9927A>C) n.507A>C c.9823A>C (p.Lys3275Gln) | |
13 | g.32398432A>G | CA387767052 | BRCA2 | c.*442A>G (n.*442A>G) c.*1286A>G (n.*1286A>G) c.9550A>G (p.Lys3184Glu) c.*1481A>G (n.*1481A>G) c.9868A>G (p.Lys3290Glu) c.2335A>G (p.Lys779Glu) n.2046A>G c.9919A>G (p.Lys3307Glu) c.9927A>G (n.9927A>G) n.507A>G c.9823A>G (p.Lys3275Glu) | ClinVar dbSNP |
13 | g.32398432A>T | CA387767049 | BRCA2 | c.*442A>T (n.*442A>T) c.*1286A>T (n.*1286A>T) c.9550A>T (p.Lys3184Ter) c.*1481A>T (n.*1481A>T) c.9868A>T (p.Lys3290Ter) c.2335A>T (p.Lys779Ter) n.2046A>T c.9919A>T (p.Lys3307Ter) c.9927A>T (n.9927A>T) n.507A>T c.9823A>T (p.Lys3275Ter) | ClinVar dbSNP |
13 | g.32398433A= | CA2082835963 | BRCA2 | c.*443A= (n.*443A=) c.*1287A= (n.*1287A=) c.9551A= (p.Lys3184=) c.*1482A= (n.*1482A=) c.9869A= (p.Lys3290=) c.2336A= (p.Lys779=) n.2047A= c.9920A= (p.Lys3307=) c.9928A= (n.9928A=) n.508A= c.9824A= (p.Lys3275=) | |
13 | g.32398433A>C | CA10585904 | BRCA2 | c.*443A>C (n.*443A>C) c.*1287A>C (n.*1287A>C) c.9551A>C (p.Lys3184Thr) c.*1482A>C (n.*1482A>C) c.9869A>C (p.Lys3290Thr) c.2336A>C (p.Lys779Thr) n.2047A>C c.9920A>C (p.Lys3307Thr) c.9928A>C (n.9928A>C) n.508A>C c.9824A>C (p.Lys3275Thr) | ClinVar dbSNP |
13 | g.32398433A>G | CA387767059 | BRCA2 | c.*443A>G (n.*443A>G) c.*1287A>G (n.*1287A>G) c.9551A>G (p.Lys3184Arg) c.*1482A>G (n.*1482A>G) c.9869A>G (p.Lys3290Arg) c.2336A>G (p.Lys779Arg) n.2047A>G c.9920A>G (p.Lys3307Arg) c.9928A>G (n.9928A>G) n.508A>G c.9824A>G (p.Lys3275Arg) | dbSNP |
13 | g.32398433A>T | CA387767063 | BRCA2 | c.*443A>T (n.*443A>T) c.*1287A>T (n.*1287A>T) c.9551A>T (p.Lys3184Ile) c.*1482A>T (n.*1482A>T) c.9869A>T (p.Lys3290Ile) c.2336A>T (p.Lys779Ile) n.2047A>T c.9920A>T (p.Lys3307Ile) c.9928A>T (n.9928A>T) n.508A>T c.9824A>T (p.Lys3275Ile) | dbSNP |
13 | g.32398434A= | CA2082835964 | BRCA2 | c.*444A= (n.*444A=) c.*1288A= (n.*1288A=) c.9552A= (p.Lys3184=) c.*1483A= (n.*1483A=) c.9870A= (p.Lys3290=) c.2337A= (p.Lys779=) n.2048A= c.9921A= (p.Lys3307=) c.9929A= (n.9929A=) n.509A= c.9825A= (p.Lys3275=) | |
13 | g.32398434A>C | CA387767068 | BRCA2 | c.*444A>C (n.*444A>C) c.*1288A>C (n.*1288A>C) c.9552A>C (p.Lys3184Asn) c.*1483A>C (n.*1483A>C) c.9870A>C (p.Lys3290Asn) c.2337A>C (p.Lys779Asn) n.2048A>C c.9921A>C (p.Lys3307Asn) c.9929A>C (n.9929A>C) n.509A>C c.9825A>C (p.Lys3275Asn) | |
13 | g.32398434A>G | CA483440005 | BRCA2 | c.*444A>G (n.*444A>G) c.*1288A>G (n.*1288A>G) c.9552A>G (p.Lys3184=) c.*1483A>G (n.*1483A>G) c.9870A>G (p.Lys3290=) c.2337A>G (p.Lys779=) n.2048A>G c.9921A>G (p.Lys3307=) c.9929A>G (n.9929A>G) n.509A>G c.9825A>G (p.Lys3275=) | ClinVar dbSNP |
13 | g.32398434A>T | CA387767069 | BRCA2 | c.*444A>T (n.*444A>T) c.*1288A>T (n.*1288A>T) c.9552A>T (p.Lys3184Asn) c.*1483A>T (n.*1483A>T) c.9870A>T (p.Lys3290Asn) c.2337A>T (p.Lys779Asn) n.2048A>T c.9921A>T (p.Lys3307Asn) c.9929A>T (n.9929A>T) n.509A>T c.9825A>T (p.Lys3275Asn) | dbSNP |
13 | g.32398435T>A | CA6941456 | BRCA2 | c.*445T>A (n.*445T>A) c.*1289T>A (n.*1289T>A) c.9553T>A (p.Tyr3185Asn) c.*1484T>A (n.*1484T>A) c.9871T>A (p.Tyr3291Asn) c.2338T>A (p.Tyr780Asn) n.2049T>A c.9922T>A (p.Tyr3308Asn) c.9930T>A (n.9930T>A) n.510T>A c.9826T>A (p.Tyr3276Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398435T>C | CA387767075 | BRCA2 | c.*445T>C (n.*445T>C) c.*1289T>C (n.*1289T>C) c.9553T>C (p.Tyr3185His) c.*1484T>C (n.*1484T>C) c.9871T>C (p.Tyr3291His) c.2338T>C (p.Tyr780His) n.2049T>C c.9922T>C (p.Tyr3308His) c.9930T>C (n.9930T>C) n.510T>C c.9826T>C (p.Tyr3276His) | |
13 | g.32398435T>G | CA387767072 | BRCA2 | c.*445T>G (n.*445T>G) c.*1289T>G (n.*1289T>G) c.9553T>G (p.Tyr3185Asp) c.*1484T>G (n.*1484T>G) c.9871T>G (p.Tyr3291Asp) c.2338T>G (p.Tyr780Asp) n.2049T>G c.9922T>G (p.Tyr3308Asp) c.9930T>G (n.9930T>G) n.510T>G c.9826T>G (p.Tyr3276Asp) | dbSNP |
13 | g.32398435T= | CA2082835969 | BRCA2 | c.*445T= (n.*445T=) c.*1289T= (n.*1289T=) c.9553T= (p.Tyr3185=) c.*1484T= (n.*1484T=) c.9871T= (p.Tyr3291=) c.2338T= (p.Tyr780=) n.2049T= c.9922T= (p.Tyr3308=) c.9930T= (n.9930T=) n.510T= c.9826T= (p.Tyr3276=) | |
13 | g.32398436A>C | CA387767080 | BRCA2 | c.*446A>C (n.*446A>C) c.*1290A>C (n.*1290A>C) c.9554A>C (p.Tyr3185Ser) c.*1485A>C (n.*1485A>C) c.9872A>C (p.Tyr3291Ser) c.2339A>C (p.Tyr780Ser) n.2050A>C c.9923A>C (p.Tyr3308Ser) c.9931A>C (n.9931A>C) n.511A>C c.9827A>C (p.Tyr3276Ser) | dbSNP |
13 | g.32398436A>G | CA387767083 | BRCA2 | c.*446A>G (n.*446A>G) c.*1290A>G (n.*1290A>G) c.9554A>G (p.Tyr3185Cys) c.*1485A>G (n.*1485A>G) c.9872A>G (p.Tyr3291Cys) c.2339A>G (p.Tyr780Cys) n.2050A>G c.9923A>G (p.Tyr3308Cys) c.9931A>G (n.9931A>G) n.511A>G c.9827A>G (p.Tyr3276Cys) | dbSNP |
13 | g.32398436A>T | CA387767085 | BRCA2 | c.*446A>T (n.*446A>T) c.*1290A>T (n.*1290A>T) c.9554A>T (p.Tyr3185Phe) c.*1485A>T (n.*1485A>T) c.9872A>T (p.Tyr3291Phe) c.2339A>T (p.Tyr780Phe) n.2050A>T c.9923A>T (p.Tyr3308Phe) c.9931A>T (n.9931A>T) n.511A>T c.9827A>T (p.Tyr3276Phe) | dbSNP |
13 | g.32398437C>A | CA10589578 | BRCA2 | c.*447C>A (n.*447C>A) c.*1291C>A (n.*1291C>A) c.9555C>A (p.Tyr3185Ter) c.*1486C>A (n.*1486C>A) c.9873C>A (p.Tyr3291Ter) c.2340C>A (p.Tyr780Ter) n.2051C>A c.9924C>A (p.Tyr3308Ter) c.9932C>A (n.9932C>A) n.512C>A c.9828C>A (p.Tyr3276Ter) | ClinVar dbSNP |
13 | g.32398437C= | CA2082835978 | BRCA2 | c.*447C= (n.*447C=) c.*1291C= (n.*1291C=) c.9555C= (p.Tyr3185=) c.*1486C= (n.*1486C=) c.9873C= (p.Tyr3291=) c.2340C= (p.Tyr780=) n.2051C= c.9924C= (p.Tyr3308=) c.9932C= (n.9932C=) n.512C= c.9828C= (p.Tyr3276=) | |
13 | g.32398437C>G | CA026332 | BRCA2 | c.*447C>G (n.*447C>G) c.*1291C>G (n.*1291C>G) c.9555C>G (p.Tyr3185Ter) c.*1486C>G (n.*1486C>G) c.9873C>G (p.Tyr3291Ter) c.2340C>G (p.Tyr780Ter) n.2051C>G c.9924C>G (p.Tyr3308Ter) c.9932C>G (n.9932C>G) n.512C>G c.9828C>G (p.Tyr3276Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398437C>T | CA026333 | BRCA2 | c.*447C>T (n.*447C>T) c.*1291C>T (n.*1291C>T) c.9555C>T (p.Tyr3185=) c.*1486C>T (n.*1486C>T) c.9873C>T (p.Tyr3291=) c.2340C>T (p.Tyr780=) n.2051C>T c.9924C>T (p.Tyr3308=) c.9932C>T (n.9932C>T) n.512C>T c.9828C>T (p.Tyr3276=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398438G>A | CA026334 | BRCA2 | c.*448G>A (n.*448G>A) c.*1292G>A (n.*1292G>A) c.9556G>A (p.Glu3186Lys) c.*1487G>A (n.*1487G>A) c.9874G>A (p.Glu3292Lys) c.2341G>A (p.Glu781Lys) n.2052G>A c.9925G>A (p.Glu3309Lys) c.9933G>A (n.9933G>A) n.513G>A c.9829G>A (p.Glu3277Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398438G>C | CA387767097 | BRCA2 | c.*448G>C (n.*448G>C) c.*1292G>C (n.*1292G>C) c.9556G>C (p.Glu3186Gln) c.*1487G>C (n.*1487G>C) c.9874G>C (p.Glu3292Gln) c.2341G>C (p.Glu781Gln) n.2052G>C c.9925G>C (p.Glu3309Gln) c.9933G>C (n.9933G>C) n.513G>C c.9829G>C (p.Glu3277Gln) | |
13 | g.32398438G= | CA2082835990 | BRCA2 | c.*448G= (n.*448G=) c.*1292G= (n.*1292G=) c.9556G= (p.Glu3186=) c.*1487G= (n.*1487G=) c.9874G= (p.Glu3292=) c.2341G= (p.Glu781=) n.2052G= c.9925G= (p.Glu3309=) c.9933G= (n.9933G=) n.513G= c.9829G= (p.Glu3277=) | |
13 | g.32398438G>T | CA026335 | BRCA2 | c.*448G>T (n.*448G>T) c.*1292G>T (n.*1292G>T) c.9556G>T (p.Glu3186Ter) c.*1487G>T (n.*1487G>T) c.9874G>T (p.Glu3292Ter) c.2341G>T (p.Glu781Ter) n.2052G>T c.9925G>T (p.Glu3309Ter) c.9933G>T (n.9933G>T) n.513G>T c.9829G>T (p.Glu3277Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32398438_32398439delinsTT | CA2580087470 | BRCA2 | c.*448_*449delinsTT (n.*448_*449delinsTT) c.*1292_*1293delinsTT (n.*1292_*1293delinsTT) c.9556_9557delinsTT (p.Glu3186Leu) c.*1487_*1488delinsTT (n.*1487_*1488delinsTT) c.9874_9875delinsTT (p.Glu3292Leu) c.2341_2342delinsTT (p.Glu781Leu) n.2052_2053delinsTT c.9925_9926delinsTT (p.Glu3309Leu) c.9933_9934delinsTT (n.9933_9934delinsTT) n.513_514delinsTT c.9829_9830delinsTT (p.Glu3277Leu) | ClinVar |
13 | g.32398439A= | CA2082835998 | BRCA2 | c.*449A= (n.*449A=) c.*1293A= (n.*1293A=) c.9557A= (p.Glu3186=) c.*1488A= (n.*1488A=) c.9875A= (p.Glu3292=) c.2342A= (p.Glu781=) n.2053A= c.9926A= (p.Glu3309=) c.9934A= (n.9934A=) n.514A= c.9830A= (p.Glu3277=) | |
13 | g.32398439A>C | CA387767101 | BRCA2 | c.*449A>C (n.*449A>C) c.*1293A>C (n.*1293A>C) c.9557A>C (p.Glu3186Ala) c.*1488A>C (n.*1488A>C) c.9875A>C (p.Glu3292Ala) c.2342A>C (p.Glu781Ala) n.2053A>C c.9926A>C (p.Glu3309Ala) c.9934A>C (n.9934A>C) n.514A>C c.9830A>C (p.Glu3277Ala) | |
13 | g.32398439A>G | CA16619798 | BRCA2 | c.*449A>G (n.*449A>G) c.*1293A>G (n.*1293A>G) c.9557A>G (p.Glu3186Gly) c.*1488A>G (n.*1488A>G) c.9875A>G (p.Glu3292Gly) c.2342A>G (p.Glu781Gly) n.2053A>G c.9926A>G (p.Glu3309Gly) c.9934A>G (n.9934A>G) n.514A>G c.9830A>G (p.Glu3277Gly) | ClinVar dbSNP |
13 | g.32398439A>T | CA387767103 | BRCA2 | c.*449A>T (n.*449A>T) c.*1293A>T (n.*1293A>T) c.9557A>T (p.Glu3186Val) c.*1488A>T (n.*1488A>T) c.9875A>T (p.Glu3292Val) c.2342A>T (p.Glu781Val) n.2053A>T c.9926A>T (p.Glu3309Val) c.9934A>T (n.9934A>T) n.514A>T c.9830A>T (p.Glu3277Val) | ClinVar dbSNP |
13 | g.32398440A>C | CA387767106 | BRCA2 | c.*450A>C (n.*450A>C) c.*1294A>C (n.*1294A>C) c.9558A>C (p.Glu3186Asp) c.*1489A>C (n.*1489A>C) c.9876A>C (p.Glu3292Asp) c.2343A>C (p.Glu781Asp) n.2054A>C c.9927A>C (p.Glu3309Asp) c.9935A>C (n.9935A>C) n.515A>C c.9831A>C (p.Glu3277Asp) | dbSNP |
13 | g.32398440A>G | CA483440007 | BRCA2 | c.*450A>G (n.*450A>G) c.*1294A>G (n.*1294A>G) c.9558A>G (p.Glu3186=) c.*1489A>G (n.*1489A>G) c.9876A>G (p.Glu3292=) c.2343A>G (p.Glu781=) n.2054A>G c.9927A>G (p.Glu3309=) c.9935A>G (n.9935A>G) n.515A>G c.9831A>G (p.Glu3277=) | dbSNP |
13 | g.32398440A>T | CA387767111 | BRCA2 | c.*450A>T (n.*450A>T) c.*1294A>T (n.*1294A>T) c.9558A>T (p.Glu3186Asp) c.*1489A>T (n.*1489A>T) c.9876A>T (p.Glu3292Asp) c.2343A>T (p.Glu781Asp) n.2054A>T c.9927A>T (p.Glu3309Asp) c.9935A>T (n.9935A>T) n.515A>T c.9831A>T (p.Glu3277Asp) | |
13 | g.32398441A>C | CA387767113 | BRCA2 | c.*451A>C (n.*451A>C) c.*1295A>C (n.*1295A>C) c.9559A>C (p.Thr3187Pro) c.*1490A>C (n.*1490A>C) c.9877A>C (p.Thr3293Pro) c.2344A>C (p.Thr782Pro) n.2055A>C c.9928A>C (p.Thr3310Pro) c.9936A>C (n.9936A>C) n.516A>C c.9832A>C (p.Thr3278Pro) | |
13 | g.32398441A>G | CA387767117 | BRCA2 | c.*451A>G (n.*451A>G) c.*1295A>G (n.*1295A>G) c.9559A>G (p.Thr3187Ala) c.*1490A>G (n.*1490A>G) c.9877A>G (p.Thr3293Ala) c.2344A>G (p.Thr782Ala) n.2055A>G c.9928A>G (p.Thr3310Ala) c.9936A>G (n.9936A>G) n.516A>G c.9832A>G (p.Thr3278Ala) | |
13 | g.32398441A>T | CA387767120 | BRCA2 | c.*451A>T (n.*451A>T) c.*1295A>T (n.*1295A>T) c.9559A>T (p.Thr3187Ser) c.*1490A>T (n.*1490A>T) c.9877A>T (p.Thr3293Ser) c.2344A>T (p.Thr782Ser) n.2055A>T c.9928A>T (p.Thr3310Ser) c.9936A>T (n.9936A>T) n.516A>T c.9832A>T (p.Thr3278Ser) | |
13 | g.32398442C>A | CA387767121 | BRCA2 | c.*452C>A (n.*452C>A) c.*1296C>A (n.*1296C>A) c.9560C>A (p.Thr3187Lys) c.*1491C>A (n.*1491C>A) c.9878C>A (p.Thr3293Lys) c.2345C>A (p.Thr782Lys) n.2056C>A c.9929C>A (p.Thr3310Lys) c.9937C>A (n.9937C>A) n.517C>A c.9833C>A (p.Thr3278Lys) | dbSNP |
13 | g.32398442C>G | CA387767124 | BRCA2 | c.*452C>G (n.*452C>G) c.*1296C>G (n.*1296C>G) c.9560C>G (p.Thr3187Arg) c.*1491C>G (n.*1491C>G) c.9878C>G (p.Thr3293Arg) c.2345C>G (p.Thr782Arg) n.2056C>G c.9929C>G (p.Thr3310Arg) c.9937C>G (n.9937C>G) n.517C>G c.9833C>G (p.Thr3278Arg) | dbSNP |
13 | g.32398442C>T | CA387767127 | BRCA2 | c.*452C>T (n.*452C>T) c.*1296C>T (n.*1296C>T) c.9560C>T (p.Thr3187Ile) c.*1491C>T (n.*1491C>T) c.9878C>T (p.Thr3293Ile) c.2345C>T (p.Thr782Ile) n.2056C>T c.9929C>T (p.Thr3310Ile) c.9937C>T (n.9937C>T) n.517C>T c.9833C>T (p.Thr3278Ile) | dbSNP |
13 | g.32398443A= | CA2082836008 | BRCA2 | c.*453A= (n.*453A=) c.*1297A= (n.*1297A=) c.9561A= (p.Thr3187=) c.*1492A= (n.*1492A=) c.9879A= (p.Thr3293=) c.2346A= (p.Thr782=) n.2057A= c.9930A= (p.Thr3310=) c.9938A= (n.9938A=) n.518A= c.9834A= (p.Thr3278=) | |
13 | g.32398443A>C | CA6941457 | BRCA2 | c.*453A>C (n.*453A>C) c.*1297A>C (n.*1297A>C) c.9561A>C (p.Thr3187=) c.*1492A>C (n.*1492A>C) c.9879A>C (p.Thr3293=) c.2346A>C (p.Thr782=) n.2057A>C c.9930A>C (p.Thr3310=) c.9938A>C (n.9938A>C) n.518A>C c.9834A>C (p.Thr3278=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398443A>G | CA483440009 | BRCA2 | c.*453A>G (n.*453A>G) c.*1297A>G (n.*1297A>G) c.9561A>G (p.Thr3187=) c.*1492A>G (n.*1492A>G) c.9879A>G (p.Thr3293=) c.2346A>G (p.Thr782=) n.2057A>G c.9930A>G (p.Thr3310=) c.9938A>G (n.9938A>G) n.518A>G c.9834A>G (p.Thr3278=) | ClinVar |
13 | g.32398443A>T | CA483440010 | BRCA2 | c.*453A>T (n.*453A>T) c.*1297A>T (n.*1297A>T) c.9561A>T (p.Thr3187=) c.*1492A>T (n.*1492A>T) c.9879A>T (p.Thr3293=) c.2346A>T (p.Thr782=) n.2057A>T c.9930A>T (p.Thr3310=) c.9938A>T (n.9938A>T) n.518A>T c.9834A>T (p.Thr3278=) | |
13 | g.32398444C>A | CA387767137 | BRCA2 | c.*454C>A (n.*454C>A) c.*1298C>A (n.*1298C>A) c.9562C>A (p.Pro3188Thr) c.*1493C>A (n.*1493C>A) c.9880C>A (p.Pro3294Thr) c.2347C>A (p.Pro783Thr) n.2058C>A c.9931C>A (p.Pro3311Thr) c.9939C>A (n.9939C>A) n.519C>A c.9835C>A (p.Pro3279Thr) | dbSNP gnomAD v2 |
13 | g.32398444C= | CA2082836020 | BRCA2 | c.*454C= (n.*454C=) c.*1298C= (n.*1298C=) c.9562C= (p.Pro3188=) c.*1493C= (n.*1493C=) c.9880C= (p.Pro3294=) c.2347C= (p.Pro783=) n.2058C= c.9931C= (p.Pro3311=) c.9939C= (n.9939C=) n.519C= c.9835C= (p.Pro3279=) | |
13 | g.32398444C>G | CA387767140 | BRCA2 | c.*454C>G (n.*454C>G) c.*1298C>G (n.*1298C>G) c.9562C>G (p.Pro3188Ala) c.*1493C>G (n.*1493C>G) c.9880C>G (p.Pro3294Ala) c.2347C>G (p.Pro783Ala) n.2058C>G c.9931C>G (p.Pro3311Ala) c.9939C>G (n.9939C>G) n.519C>G c.9835C>G (p.Pro3279Ala) | dbSNP |
13 | g.32398444C>T | CA387767135 | BRCA2 | c.*454C>T (n.*454C>T) c.*1298C>T (n.*1298C>T) c.9562C>T (p.Pro3188Ser) c.*1493C>T (n.*1493C>T) c.9880C>T (p.Pro3294Ser) c.2347C>T (p.Pro783Ser) n.2058C>T c.9931C>T (p.Pro3311Ser) c.9939C>T (n.9939C>T) n.519C>T c.9835C>T (p.Pro3279Ser) | ClinVar dbSNP |
13 | g.32398446del | CA2580087471 | BRCA2 | c.*456del (n.*456del) c.*1300del (n.*1300del) c.9564del (p.Ile3189Ter) c.*1495del (n.*1495del) c.9882del (p.Ile3295Ter) c.2349del (p.Ile784Ter) n.2060del c.9933del (p.Ile3312Ter) c.9941del (n.9941del) n.521del c.9837del (p.Ile3280Ter) | ClinVar gnomAD v4 |
13 | g.32398445C>A | CA387767144 | BRCA2 | c.*455C>A (n.*455C>A) c.*1299C>A (n.*1299C>A) c.9563C>A (p.Pro3188His) c.*1494C>A (n.*1494C>A) c.9881C>A (p.Pro3294His) c.2348C>A (p.Pro783His) n.2059C>A c.9932C>A (p.Pro3311His) c.9940C>A (n.9940C>A) n.520C>A c.9836C>A (p.Pro3279His) | dbSNP gnomAD v2 |
13 | g.32398445C= | CA2082836033 | BRCA2 | c.*455C= (n.*455C=) c.*1299C= (n.*1299C=) c.9563C= (p.Pro3188=) c.*1494C= (n.*1494C=) c.9881C= (p.Pro3294=) c.2348C= (p.Pro783=) n.2059C= c.9932C= (p.Pro3311=) c.9940C= (n.9940C=) n.520C= c.9836C= (p.Pro3279=) | |
13 | g.32398445C>G | CA16619799 | BRCA2 | c.*455C>G (n.*455C>G) c.*1299C>G (n.*1299C>G) c.9563C>G (p.Pro3188Arg) c.*1494C>G (n.*1494C>G) c.9881C>G (p.Pro3294Arg) c.2348C>G (p.Pro783Arg) n.2059C>G c.9932C>G (p.Pro3311Arg) c.9940C>G (n.9940C>G) n.520C>G c.9836C>G (p.Pro3279Arg) | ClinVar dbSNP |
13 | g.32398445C>T | CA16614260 | BRCA2 | c.*455C>T (n.*455C>T) c.*1299C>T (n.*1299C>T) c.9563C>T (p.Pro3188Leu) c.*1494C>T (n.*1494C>T) c.9881C>T (p.Pro3294Leu) c.2348C>T (p.Pro783Leu) n.2059C>T c.9932C>T (p.Pro3311Leu) c.9940C>T (n.9940C>T) n.520C>T c.9836C>T (p.Pro3279Leu) | ClinVar dbSNP |
13 | g.32398446C>A | CA483440011 | BRCA2 | c.*456C>A (n.*456C>A) c.*1300C>A (n.*1300C>A) c.9564C>A (p.Pro3188=) c.*1495C>A (n.*1495C>A) c.9882C>A (p.Pro3294=) c.2349C>A (p.Pro783=) n.2060C>A c.9933C>A (p.Pro3311=) c.9941C>A (n.9941C>A) n.521C>A c.9837C>A (p.Pro3279=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398446C= | CA2082836040 | BRCA2 | c.*456C= (n.*456C=) c.*1300C= (n.*1300C=) c.9564C= (p.Pro3188=) c.*1495C= (n.*1495C=) c.9882C= (p.Pro3294=) c.2349C= (p.Pro783=) n.2060C= c.9933C= (p.Pro3311=) c.9941C= (n.9941C=) n.521C= c.9837C= (p.Pro3279=) | |
13 | g.32398446C>G | CA483440013 | BRCA2 | c.*456C>G (n.*456C>G) c.*1300C>G (n.*1300C>G) c.9564C>G (p.Pro3188=) c.*1495C>G (n.*1495C>G) c.9882C>G (p.Pro3294=) c.2349C>G (p.Pro783=) n.2060C>G c.9933C>G (p.Pro3311=) c.9941C>G (n.9941C>G) n.521C>G c.9837C>G (p.Pro3279=) | dbSNP |
13 | g.32398446C>T | CA483440012 | BRCA2 | c.*456C>T (n.*456C>T) c.*1300C>T (n.*1300C>T) c.9564C>T (p.Pro3188=) c.*1495C>T (n.*1495C>T) c.9882C>T (p.Pro3294=) c.2349C>T (p.Pro783=) n.2060C>T c.9933C>T (p.Pro3311=) c.9941C>T (n.9941C>T) n.521C>T c.9837C>T (p.Pro3279=) | ClinVar dbSNP |
13 | g.32398447A= | CA2082836046 | BRCA2 | c.*457A= (n.*457A=) c.*1301A= (n.*1301A=) c.9565A= (p.Ile3189=) c.*1496A= (n.*1496A=) c.9883A= (p.Ile3295=) c.2350A= (p.Ile784=) n.2061A= c.9934A= (p.Ile3312=) c.9942A= (n.9942A=) n.522A= c.9838A= (p.Ile3280=) | |
13 | g.32398447A>C | CA387767149 | BRCA2 | c.*457A>C (n.*457A>C) c.*1301A>C (n.*1301A>C) c.9565A>C (p.Ile3189Leu) c.*1496A>C (n.*1496A>C) c.9883A>C (p.Ile3295Leu) c.2350A>C (p.Ile784Leu) n.2061A>C c.9934A>C (p.Ile3312Leu) c.9942A>C (n.9942A>C) n.522A>C c.9838A>C (p.Ile3280Leu) | |
13 | g.32398447A>G | CA026337 | BRCA2 | c.*457A>G (n.*457A>G) c.*1301A>G (n.*1301A>G) c.9565A>G (p.Ile3189Val) c.*1496A>G (n.*1496A>G) c.9883A>G (p.Ile3295Val) c.2350A>G (p.Ile784Val) n.2061A>G c.9934A>G (p.Ile3312Val) c.9942A>G (n.9942A>G) n.522A>G c.9838A>G (p.Ile3280Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398447A>T | CA387767153 | BRCA2 | c.*457A>T (n.*457A>T) c.*1301A>T (n.*1301A>T) c.9565A>T (p.Ile3189Leu) c.*1496A>T (n.*1496A>T) c.9883A>T (p.Ile3295Leu) c.2350A>T (p.Ile784Leu) n.2061A>T c.9934A>T (p.Ile3312Leu) c.9942A>T (n.9942A>T) n.522A>T c.9838A>T (p.Ile3280Leu) | dbSNP |
13 | g.32398448T>A | CA387767159 | BRCA2 | c.*458T>A (n.*458T>A) c.*1302T>A (n.*1302T>A) c.9566T>A (p.Ile3189Lys) c.*1497T>A (n.*1497T>A) c.9884T>A (p.Ile3295Lys) c.2351T>A (p.Ile784Lys) n.2062T>A c.9935T>A (p.Ile3312Lys) c.9943T>A (n.9943T>A) n.523T>A c.9839T>A (p.Ile3280Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398448T>C | CA387767162 | BRCA2 | c.*458T>C (n.*458T>C) c.*1302T>C (n.*1302T>C) c.9566T>C (p.Ile3189Thr) c.*1497T>C (n.*1497T>C) c.9884T>C (p.Ile3295Thr) c.2351T>C (p.Ile784Thr) n.2062T>C c.9935T>C (p.Ile3312Thr) c.9943T>C (n.9943T>C) n.523T>C c.9839T>C (p.Ile3280Thr) | gnomAD v4 |
13 | g.32398448T>G | CA387767166 | BRCA2 | c.*458T>G (n.*458T>G) c.*1302T>G (n.*1302T>G) c.9566T>G (p.Ile3189Arg) c.*1497T>G (n.*1497T>G) c.9884T>G (p.Ile3295Arg) c.2351T>G (p.Ile784Arg) n.2062T>G c.9935T>G (p.Ile3312Arg) c.9943T>G (n.9943T>G) n.523T>G c.9839T>G (p.Ile3280Arg) | |
13 | g.32398448T= | CA2082836061 | BRCA2 | c.*458T= (n.*458T=) c.*1302T= (n.*1302T=) c.9566T= (p.Ile3189=) c.*1497T= (n.*1497T=) c.9884T= (p.Ile3295=) c.2351T= (p.Ile784=) n.2062T= c.9935T= (p.Ile3312=) c.9943T= (n.9943T=) n.523T= c.9839T= (p.Ile3280=) | |
13 | g.32398448_32398452delinsTAAAG | CA2082836055 | BRCA2 | c.*458_*462delinsTAAAG (n.*458_*462delinsTAAAG) c.*1302_*1306delinsTAAAG (n.*1302_*1306delinsTAAAG) c.9566_9570delinsTAAAG (p.Ile3189=) c.*1497_*1501delinsTAAAG (n.*1497_*1501delinsTAAAG) c.9884_9888delinsTAAAG (p.Ile3295=) c.2351_2355delinsTAAAG (p.Ile784=) n.2062_2066delinsTAAAG c.9935_9939delinsTAAAG (p.Ile3312=) c.9943_9947delinsTAAAG (n.9943_9947delinsTAAAG) c.9839_9843delinsTAAAG (p.Ile3280=) | |
13 | g.32398449A= | CA2082836072 | BRCA2 | c.*459A= (n.*459A=) c.*1303A= (n.*1303A=) c.9567A= (p.Ile3189=) c.*1498A= (n.*1498A=) c.9885A= (p.Ile3295=) c.2352A= (p.Ile784=) n.2063A= c.9936A= (p.Ile3312=) c.9944A= (n.9944A=) c.9840A= (p.Ile3280=) | |
13 | g.32398449A>C | CA483440017 | BRCA2 | c.*459A>C (n.*459A>C) c.*1303A>C (n.*1303A>C) c.9567A>C (p.Ile3189=) c.*1498A>C (n.*1498A>C) c.9885A>C (p.Ile3295=) c.2352A>C (p.Ile784=) n.2063A>C c.9936A>C (p.Ile3312=) c.9944A>C (n.9944A>C) c.9840A>C (p.Ile3280=) | |
13 | g.32398449A>G | CA026338 | BRCA2 | c.*459A>G (n.*459A>G) c.*1303A>G (n.*1303A>G) c.9567A>G (p.Ile3189Met) c.*1498A>G (n.*1498A>G) c.9885A>G (p.Ile3295Met) c.2352A>G (p.Ile784Met) n.2063A>G c.9936A>G (p.Ile3312Met) c.9944A>G (n.9944A>G) c.9840A>G (p.Ile3280Met) | ClinVar dbSNP gnomAD v4 |
13 | g.32398449A>T | CA483440018 | BRCA2 | c.*459A>T (n.*459A>T) c.*1303A>T (n.*1303A>T) c.9567A>T (p.Ile3189=) c.*1498A>T (n.*1498A>T) c.9885A>T (p.Ile3295=) c.2352A>T (p.Ile784=) n.2063A>T c.9936A>T (p.Ile3312=) c.9944A>T (n.9944A>T) c.9840A>T (p.Ile3280=) | dbSNP |
13 | g.32398452_32398455del | CA16619800 | BRCA2 | c.*462_*465del (n.*462_*465del) c.*1306_*1309del (n.*1306_*1309del) c.9570_9573del (p.Lys3192AsnfsTer2) c.*1501_*1504del (n.*1501_*1504del) c.9888_9891del (p.Lys3298AsnfsTer2) c.2355_2358del (p.Lys787AsnfsTer2) n.2066_2069del c.9939_9942del (p.Lys3315AsnfsTer2) c.9947_9950del (n.9947_9950del) c.9843_9846del (p.Lys3283AsnfsTer2) | ClinVar dbSNP |
13 | g.32398450A= | CA2082836081 | BRCA2 | c.*460A= (n.*460A=) c.*1304A= (n.*1304A=) c.9568A= (p.Lys3190=) c.*1499A= (n.*1499A=) c.9886A= (p.Lys3296=) c.2353A= (p.Lys785=) n.2064A= c.9937A= (p.Lys3313=) c.9945A= (n.9945A=) c.9841A= (p.Lys3281=) | |
13 | g.32398450A>C | CA387767182 | BRCA2 | c.*460A>C (n.*460A>C) c.*1304A>C (n.*1304A>C) c.9568A>C (p.Lys3190Gln) c.*1499A>C (n.*1499A>C) c.9886A>C (p.Lys3296Gln) c.2353A>C (p.Lys785Gln) n.2064A>C c.9937A>C (p.Lys3313Gln) c.9945A>C (n.9945A>C) c.9841A>C (p.Lys3281Gln) | COSMIC COSMIC |
13 | g.32398450A>G | CA10577502 | BRCA2 | c.*460A>G (n.*460A>G) c.*1304A>G (n.*1304A>G) c.9568A>G (p.Lys3190Glu) c.*1499A>G (n.*1499A>G) c.9886A>G (p.Lys3296Glu) c.2353A>G (p.Lys785Glu) n.2064A>G c.9937A>G (p.Lys3313Glu) c.9945A>G (n.9945A>G) c.9841A>G (p.Lys3281Glu) | ClinVar dbSNP |
13 | g.32398450A>T | CA387767187 | BRCA2 | c.*460A>T (n.*460A>T) c.*1304A>T (n.*1304A>T) c.9568A>T (p.Lys3190Ter) c.*1499A>T (n.*1499A>T) c.9886A>T (p.Lys3296Ter) c.2353A>T (p.Lys785Ter) n.2064A>T c.9937A>T (p.Lys3313Ter) c.9945A>T (n.9945A>T) c.9841A>T (p.Lys3281Ter) | dbSNP |
13 | g.32398451A= | CA2082836086 | BRCA2 | c.*461A= (n.*461A=) c.*1305A= (n.*1305A=) c.9569A= (p.Lys3190=) c.*1500A= (n.*1500A=) c.9887A= (p.Lys3296=) c.2354A= (p.Lys785=) n.2065A= c.9938A= (p.Lys3313=) c.9946A= (n.9946A=) c.9842A= (p.Lys3281=) | |
13 | g.32398451A>C | CA387767190 | BRCA2 | c.*461A>C (n.*461A>C) c.*1305A>C (n.*1305A>C) c.9569A>C (p.Lys3190Thr) c.*1500A>C (n.*1500A>C) c.9887A>C (p.Lys3296Thr) c.2354A>C (p.Lys785Thr) n.2065A>C c.9938A>C (p.Lys3313Thr) c.9946A>C (n.9946A>C) c.9842A>C (p.Lys3281Thr) | COSMIC COSMIC |
13 | g.32398451A>G | CA387767194 | BRCA2 | c.*461A>G (n.*461A>G) c.*1305A>G (n.*1305A>G) c.9569A>G (p.Lys3190Arg) c.*1500A>G (n.*1500A>G) c.9887A>G (p.Lys3296Arg) c.2354A>G (p.Lys785Arg) n.2065A>G c.9938A>G (p.Lys3313Arg) c.9946A>G (n.9946A>G) c.9842A>G (p.Lys3281Arg) | ClinVar dbSNP |
13 | g.32398451A>T | CA387767197 | BRCA2 | c.*461A>T (n.*461A>T) c.*1305A>T (n.*1305A>T) c.9569A>T (p.Lys3190Met) c.*1500A>T (n.*1500A>T) c.9887A>T (p.Lys3296Met) c.2354A>T (p.Lys785Met) n.2065A>T c.9938A>T (p.Lys3313Met) c.9946A>T (n.9946A>T) c.9842A>T (p.Lys3281Met) | |
13 | g.32398452G>A | CA483440019 | BRCA2 | c.*462G>A (n.*462G>A) c.*1306G>A (n.*1306G>A) c.9570G>A (p.Lys3190=) c.*1501G>A (n.*1501G>A) c.9888G>A (p.Lys3296=) c.2355G>A (p.Lys785=) n.2066G>A c.9939G>A (p.Lys3313=) c.9947G>A (n.9947G>A) c.9843G>A (p.Lys3281=) | ClinVar dbSNP gnomAD v2 |
13 | g.32398452G>C | CA387767200 | BRCA2 | c.*462G>C (n.*462G>C) c.*1306G>C (n.*1306G>C) c.9570G>C (p.Lys3190Asn) c.*1501G>C (n.*1501G>C) c.9888G>C (p.Lys3296Asn) c.2355G>C (p.Lys785Asn) n.2066G>C c.9939G>C (p.Lys3313Asn) c.9947G>C (n.9947G>C) c.9843G>C (p.Lys3281Asn) | ClinVar dbSNP |
13 | g.32398452G= | CA2082836096 | BRCA2 | c.*462G= (n.*462G=) c.*1306G= (n.*1306G=) c.9570G= (p.Lys3190=) c.*1501G= (n.*1501G=) c.9888G= (p.Lys3296=) c.2355G= (p.Lys785=) n.2066G= c.9939G= (p.Lys3313=) c.9947G= (n.9947G=) c.9843G= (p.Lys3281=) | |
13 | g.32398452G>T | CA387767204 | BRCA2 | c.*462G>T (n.*462G>T) c.*1306G>T (n.*1306G>T) c.9570G>T (p.Lys3190Asn) c.*1501G>T (n.*1501G>T) c.9888G>T (p.Lys3296Asn) c.2355G>T (p.Lys785Asn) n.2066G>T c.9939G>T (p.Lys3313Asn) c.9947G>T (n.9947G>T) c.9843G>T (p.Lys3281Asn) | ClinVar dbSNP |
13 | g.32398452_32398453delinsGA | CA2082836100 | BRCA2 | c.*462_*463delinsGA (n.*462_*463delinsGA) c.*1306_*1307delinsGA (n.*1306_*1307delinsGA) c.9570_9571delinsGA (p.Lys3190=) c.*1501_*1502delinsGA (n.*1501_*1502delinsGA) c.9888_9889delinsGA (p.Lys3296=) c.2355_2356delinsGA (p.Lys785=) n.2066_2067delinsGA c.9939_9940delinsGA (p.Lys3313=) c.9947_9948delinsGA (n.9947_9948delinsGA) c.9843_9844delinsGA (p.Lys3281=) | |
13 | g.32398453A= | CA2082836116 | BRCA2 | c.*463A= (n.*463A=) c.*1307A= (n.*1307A=) c.9571A= (p.Lys3191=) c.*1502A= (n.*1502A=) c.9889A= (p.Lys3297=) c.2356A= (p.Lys786=) n.2067A= c.9940A= (p.Lys3314=) c.9948A= (n.9948A=) c.9844A= (p.Lys3282=) | |
13 | g.32398453A>C | CA387767228 | BRCA2 | c.*463A>C (n.*463A>C) c.*1307A>C (n.*1307A>C) c.9571A>C (p.Lys3191Gln) c.*1502A>C (n.*1502A>C) c.9889A>C (p.Lys3297Gln) c.2356A>C (p.Lys786Gln) n.2067A>C c.9940A>C (p.Lys3314Gln) c.9948A>C (n.9948A>C) c.9844A>C (p.Lys3282Gln) | |
13 | g.32398453A>G | CA387767214 | BRCA2 | c.*463A>G (n.*463A>G) c.*1307A>G (n.*1307A>G) c.9571A>G (p.Lys3191Glu) c.*1502A>G (n.*1502A>G) c.9889A>G (p.Lys3297Glu) c.2356A>G (p.Lys786Glu) n.2067A>G c.9940A>G (p.Lys3314Glu) c.9948A>G (n.9948A>G) c.9844A>G (p.Lys3282Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398453A>T | CA387767225 | BRCA2 | c.*463A>T (n.*463A>T) c.*1307A>T (n.*1307A>T) c.9571A>T (p.Lys3191Ter) c.*1502A>T (n.*1502A>T) c.9889A>T (p.Lys3297Ter) c.2356A>T (p.Lys786Ter) n.2067A>T c.9940A>T (p.Lys3314Ter) c.9948A>T (n.9948A>T) c.9844A>T (p.Lys3282Ter) | dbSNP |
13 | g.32398458dup | CA645586596 | BRCA2 | c.*468dup (n.*468dup) c.*1312dup (n.*1312dup) c.9576dup (p.Glu3193ArgfsTer11) c.*1507dup (n.*1507dup) c.9894dup (p.Glu3299ArgfsTer11) c.2361dup (p.Glu788ArgfsTer11) n.2072dup c.9945dup (p.Glu3316ArgfsTer11) c.9953dup (n.9953dup) c.9849dup (p.Glu3284ArgfsTer11) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32398458del | CA026341 | BRCA2 | c.*468del (n.*468del) c.*1312del (n.*1312del) c.9576del (p.Glu3193AsnfsTer2) c.*1507del (n.*1507del) c.9894del (p.Glu3299AsnfsTer2) c.2361del (p.Glu788AsnfsTer2) n.2072del c.9945del (p.Glu3316AsnfsTer2) c.9953del (n.9953del) c.9849del (p.Glu3284AsnfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398454A= | CA2082836127 | BRCA2 | c.*464A= (n.*464A=) c.*1308A= (n.*1308A=) c.9572A= (p.Lys3191=) c.*1503A= (n.*1503A=) c.9890A= (p.Lys3297=) c.2357A= (p.Lys786=) n.2068A= c.9941A= (p.Lys3314=) c.9949A= (n.9949A=) c.9845A= (p.Lys3282=) | |
13 | g.32398454A>C | CA387767232 | BRCA2 | c.*464A>C (n.*464A>C) c.*1308A>C (n.*1308A>C) c.9572A>C (p.Lys3191Thr) c.*1503A>C (n.*1503A>C) c.9890A>C (p.Lys3297Thr) c.2357A>C (p.Lys786Thr) n.2068A>C c.9941A>C (p.Lys3314Thr) c.9949A>C (n.9949A>C) c.9845A>C (p.Lys3282Thr) | |
13 | g.32398454A>G | CA387767235 | BRCA2 | c.*464A>G (n.*464A>G) c.*1308A>G (n.*1308A>G) c.9572A>G (p.Lys3191Arg) c.*1503A>G (n.*1503A>G) c.9890A>G (p.Lys3297Arg) c.2357A>G (p.Lys786Arg) n.2068A>G c.9941A>G (p.Lys3314Arg) c.9949A>G (n.9949A>G) c.9845A>G (p.Lys3282Arg) | ClinVar dbSNP |
13 | g.32398454A>T | CA387767238 | BRCA2 | c.*464A>T (n.*464A>T) c.*1308A>T (n.*1308A>T) c.9572A>T (p.Lys3191Ile) c.*1503A>T (n.*1503A>T) c.9890A>T (p.Lys3297Ile) c.2357A>T (p.Lys786Ile) n.2068A>T c.9941A>T (p.Lys3314Ile) c.9949A>T (n.9949A>T) c.9845A>T (p.Lys3282Ile) | dbSNP |
13 | g.32398455A= | CA2082836132 | BRCA2 | c.*465A= (n.*465A=) c.*1309A= (n.*1309A=) c.9573A= (p.Lys3191=) c.*1504A= (n.*1504A=) c.9891A= (p.Lys3297=) c.2358A= (p.Lys786=) n.2069A= c.9942A= (p.Lys3314=) c.9950A= (n.9950A=) c.9846A= (p.Lys3282=) | |
13 | g.32398455A>C | CA16613986 | BRCA2 | c.*465A>C (n.*465A>C) c.*1309A>C (n.*1309A>C) c.9573A>C (p.Lys3191Asn) c.*1504A>C (n.*1504A>C) c.9891A>C (p.Lys3297Asn) c.2358A>C (p.Lys786Asn) n.2069A>C c.9942A>C (p.Lys3314Asn) c.9950A>C (n.9950A>C) c.9846A>C (p.Lys3282Asn) | ClinVar dbSNP |
13 | g.32398455A>G | CA483440024 | BRCA2 | c.*465A>G (n.*465A>G) c.*1309A>G (n.*1309A>G) c.9573A>G (p.Lys3191=) c.*1504A>G (n.*1504A>G) c.9891A>G (p.Lys3297=) c.2358A>G (p.Lys786=) n.2069A>G c.9942A>G (p.Lys3314=) c.9950A>G (n.9950A>G) c.9846A>G (p.Lys3282=) | |
13 | g.32398455A>T | CA387767247 | BRCA2 | c.*465A>T (n.*465A>T) c.*1309A>T (n.*1309A>T) c.9573A>T (p.Lys3191Asn) c.*1504A>T (n.*1504A>T) c.9891A>T (p.Lys3297Asn) c.2358A>T (p.Lys786Asn) n.2069A>T c.9942A>T (p.Lys3314Asn) c.9950A>T (n.9950A>T) c.9846A>T (p.Lys3282Asn) | dbSNP |
13 | g.32398457_32398461del | CA2573053833 | BRCA2 | c.*467_*471del (n.*467_*471del) c.*1311_*1315del (n.*1311_*1315del) c.9575_9579del (p.Lys3192ThrfsTer10) c.*1506_*1510del (n.*1506_*1510del) c.9893_9897del (p.Lys3298ThrfsTer10) c.2360_2364del (p.Lys787ThrfsTer10) n.2071_2075del c.9944_9948del (p.Lys3315ThrfsTer10) c.9952_9956del (n.9952_9956del) c.9848_9852del (p.Lys3283ThrfsTer10) | ClinVar dbSNP |
13 | g.32398456A>C | CA387767251 | BRCA2 | c.*466A>C (n.*466A>C) c.*1310A>C (n.*1310A>C) c.9574A>C (p.Lys3192Gln) c.*1505A>C (n.*1505A>C) c.9892A>C (p.Lys3298Gln) c.2359A>C (p.Lys787Gln) n.2070A>C c.9943A>C (p.Lys3315Gln) c.9951A>C (n.9951A>C) c.9847A>C (p.Lys3283Gln) | |
13 | g.32398456A>G | CA387767254 | BRCA2 | c.*466A>G (n.*466A>G) c.*1310A>G (n.*1310A>G) c.9574A>G (p.Lys3192Glu) c.*1505A>G (n.*1505A>G) c.9892A>G (p.Lys3298Glu) c.2359A>G (p.Lys787Glu) n.2070A>G c.9943A>G (p.Lys3315Glu) c.9951A>G (n.9951A>G) c.9847A>G (p.Lys3283Glu) | |
13 | g.32398456A>T | CA387767256 | BRCA2 | c.*466A>T (n.*466A>T) c.*1310A>T (n.*1310A>T) c.9574A>T (p.Lys3192Ter) c.*1505A>T (n.*1505A>T) c.9892A>T (p.Lys3298Ter) c.2359A>T (p.Lys787Ter) n.2070A>T c.9943A>T (p.Lys3315Ter) c.9951A>T (n.9951A>T) c.9847A>T (p.Lys3283Ter) | dbSNP |
13 | g.32398456_32398459delinsAAAG | CA2082836138 | BRCA2 | c.*466_*469delinsAAAG (n.*466_*469delinsAAAG) c.*1310_*1313delinsAAAG (n.*1310_*1313delinsAAAG) c.9574_9577delinsAAAG (p.Lys3192=) c.*1505_*1508delinsAAAG (n.*1505_*1508delinsAAAG) c.9892_9895delinsAAAG (p.Lys3298=) c.2359_2362delinsAAAG (p.Lys787=) n.2070_2073delinsAAAG c.9943_9946delinsAAAG (p.Lys3315=) c.9951_9954delinsAAAG (n.9951_9954delinsAAAG) c.9847_9850delinsAAAG (p.Lys3283=) | |
13 | g.32398457A= | CA2082836142 | BRCA2 | c.*467A= (n.*467A=) c.*1311A= (n.*1311A=) c.9575A= (p.Lys3192=) c.*1506A= (n.*1506A=) c.9893A= (p.Lys3298=) c.2360A= (p.Lys787=) n.2071A= c.9944A= (p.Lys3315=) c.9952A= (n.9952A=) c.9848A= (p.Lys3283=) | |
13 | g.32398457A>C | CA10579851 | BRCA2 | c.*467A>C (n.*467A>C) c.*1311A>C (n.*1311A>C) c.9575A>C (p.Lys3192Thr) c.*1506A>C (n.*1506A>C) c.9893A>C (p.Lys3298Thr) c.2360A>C (p.Lys787Thr) n.2071A>C c.9944A>C (p.Lys3315Thr) c.9952A>C (n.9952A>C) c.9848A>C (p.Lys3283Thr) | ClinVar dbSNP |
13 | g.32398457A>G | CA387767260 | BRCA2 | c.*467A>G (n.*467A>G) c.*1311A>G (n.*1311A>G) c.9575A>G (p.Lys3192Arg) c.*1506A>G (n.*1506A>G) c.9893A>G (p.Lys3298Arg) c.2360A>G (p.Lys787Arg) n.2071A>G c.9944A>G (p.Lys3315Arg) c.9952A>G (n.9952A>G) c.9848A>G (p.Lys3283Arg) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32398457A>T | CA387767266 | BRCA2 | c.*467A>T (n.*467A>T) c.*1311A>T (n.*1311A>T) c.9575A>T (p.Lys3192Ile) c.*1506A>T (n.*1506A>T) c.9893A>T (p.Lys3298Ile) c.2360A>T (p.Lys787Ile) n.2071A>T c.9944A>T (p.Lys3315Ile) c.9952A>T (n.9952A>T) c.9848A>T (p.Lys3283Ile) | dbSNP |
13 | g.32398459_32398461del | CA916080545 | BRCA2 | c.*469_*471del (n.*469_*471del) c.*1313_*1315del (n.*1313_*1315del) c.9577_9579del (p.Glu3193del) c.*1508_*1510del (n.*1508_*1510del) c.9895_9897del (p.Glu3299del) c.2362_2364del (p.Glu788del) n.2073_2075del c.9946_9948del (p.Glu3316del) c.9954_9956del (n.9954_9956del) c.9850_9852del (p.Glu3284del) | ClinVar dbSNP |
13 | g.32398458A= | CA2082836147 | BRCA2 | c.*468A= (n.*468A=) c.*1312A= (n.*1312A=) c.9576A= (p.Lys3192=) c.*1507A= (n.*1507A=) c.9894A= (p.Lys3298=) c.2361A= (p.Lys787=) n.2072A= c.9945A= (p.Lys3315=) c.9953A= (n.9953A=) c.9849A= (p.Lys3283=) | |
13 | g.32398458A>C | CA387767267 | BRCA2 | c.*468A>C (n.*468A>C) c.*1312A>C (n.*1312A>C) c.9576A>C (p.Lys3192Asn) c.*1507A>C (n.*1507A>C) c.9894A>C (p.Lys3298Asn) c.2361A>C (p.Lys787Asn) n.2072A>C c.9945A>C (p.Lys3315Asn) c.9953A>C (n.9953A>C) c.9849A>C (p.Lys3283Asn) | |
13 | g.32398458A>G | CA026340 | BRCA2 | c.*468A>G (n.*468A>G) c.*1312A>G (n.*1312A>G) c.9576A>G (p.Lys3192=) c.*1507A>G (n.*1507A>G) c.9894A>G (p.Lys3298=) c.2361A>G (p.Lys787=) n.2072A>G c.9945A>G (p.Lys3315=) c.9953A>G (n.9953A>G) c.9849A>G (p.Lys3283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398458A>T | CA387767274 | BRCA2 | c.*468A>T (n.*468A>T) c.*1312A>T (n.*1312A>T) c.9576A>T (p.Lys3192Asn) c.*1507A>T (n.*1507A>T) c.9894A>T (p.Lys3298Asn) c.2361A>T (p.Lys787Asn) n.2072A>T c.9945A>T (p.Lys3315Asn) c.9953A>T (n.9953A>T) c.9849A>T (p.Lys3283Asn) | dbSNP |
13 | g.32398459_32398460del | CA2695217834 | BRCA2 | c.*469_*470del (n.*469_*470del) c.*1313_*1314del (n.*1313_*1314del) c.9577_9578del (p.Glu3193ThrfsTer10) c.*1508_*1509del (n.*1508_*1509del) c.9895_9896del (p.Glu3299ThrfsTer10) c.2362_2363del (p.Glu788ThrfsTer10) n.2073_2074del c.9946_9947del (p.Glu3316ThrfsTer10) c.9954_9955del (n.9954_9955del) c.9850_9851del (p.Glu3284ThrfsTer10) | |
13 | g.32398459del | CA2831039792 | BRCA2 | c.*469del (n.*469del) c.*1313del (n.*1313del) c.9577del (p.Glu3193AsnfsTer2) c.*1508del (n.*1508del) c.9895del (p.Glu3299AsnfsTer2) c.2362del (p.Glu788AsnfsTer2) n.2073del c.9946del (p.Glu3316AsnfsTer2) c.9954del (n.9954del) c.9850del (p.Glu3284AsnfsTer2) | |
13 | g.32398459G>A | CA387767277 | BRCA2 | c.*469G>A (n.*469G>A) c.*1313G>A (n.*1313G>A) c.9577G>A (p.Glu3193Lys) c.*1508G>A (n.*1508G>A) c.9895G>A (p.Glu3299Lys) c.2362G>A (p.Glu788Lys) n.2073G>A c.9946G>A (p.Glu3316Lys) c.9954G>A (n.9954G>A) c.9850G>A (p.Glu3284Lys) | ClinVar dbSNP |
13 | g.32398459G>C | CA387767278 | BRCA2 | c.*469G>C (n.*469G>C) c.*1313G>C (n.*1313G>C) c.9577G>C (p.Glu3193Gln) c.*1508G>C (n.*1508G>C) c.9895G>C (p.Glu3299Gln) c.2362G>C (p.Glu788Gln) n.2073G>C c.9946G>C (p.Glu3316Gln) c.9954G>C (n.9954G>C) c.9850G>C (p.Glu3284Gln) | dbSNP |
13 | g.32398459G= | CA2082836154 | BRCA2 | c.*469G= (n.*469G=) c.*1313G= (n.*1313G=) c.9577G= (p.Glu3193=) c.*1508G= (n.*1508G=) c.9895G= (p.Glu3299=) c.2362G= (p.Glu788=) n.2073G= c.9946G= (p.Glu3316=) c.9954G= (n.9954G=) c.9850G= (p.Glu3284=) | |
13 | g.32398459G>T | CA6941458 | BRCA2 | c.*469G>T (n.*469G>T) c.*1313G>T (n.*1313G>T) c.9577G>T (p.Glu3193Ter) c.*1508G>T (n.*1508G>T) c.9895G>T (p.Glu3299Ter) c.2362G>T (p.Glu788Ter) n.2073G>T c.9946G>T (p.Glu3316Ter) c.9954G>T (n.9954G>T) c.9850G>T (p.Glu3284Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32398460A= | CA2082836161 | BRCA2 | c.*470A= (n.*470A=) c.*1314A= (n.*1314A=) c.9578A= (p.Glu3193=) c.*1509A= (n.*1509A=) c.9896A= (p.Glu3299=) c.2363A= (p.Glu788=) n.2074A= c.9947A= (p.Glu3316=) c.9955A= (n.9955A=) c.9851A= (p.Glu3284=) | |
13 | g.32398460A>C | CA387767283 | BRCA2 | c.*470A>C (n.*470A>C) c.*1314A>C (n.*1314A>C) c.9578A>C (p.Glu3193Ala) c.*1509A>C (n.*1509A>C) c.9896A>C (p.Glu3299Ala) c.2363A>C (p.Glu788Ala) n.2074A>C c.9947A>C (p.Glu3316Ala) c.9955A>C (n.9955A>C) c.9851A>C (p.Glu3284Ala) | dbSNP |
13 | g.32398460A>G | CA387767284 | BRCA2 | c.*470A>G (n.*470A>G) c.*1314A>G (n.*1314A>G) c.9578A>G (p.Glu3193Gly) c.*1509A>G (n.*1509A>G) c.9896A>G (p.Glu3299Gly) c.2363A>G (p.Glu788Gly) n.2074A>G c.9947A>G (p.Glu3316Gly) c.9955A>G (n.9955A>G) c.9851A>G (p.Glu3284Gly) | dbSNP |
13 | g.32398460A>T | CA387767286 | BRCA2 | c.*470A>T (n.*470A>T) c.*1314A>T (n.*1314A>T) c.9578A>T (p.Glu3193Val) c.*1509A>T (n.*1509A>T) c.9896A>T (p.Glu3299Val) c.2363A>T (p.Glu788Val) n.2074A>T c.9947A>T (p.Glu3316Val) c.9955A>T (n.9955A>T) c.9851A>T (p.Glu3284Val) | ClinVar dbSNP |
13 | g.32398461A>C | CA387767289 | BRCA2 | c.*471A>C (n.*471A>C) c.*1315A>C (n.*1315A>C) c.9579A>C (p.Glu3193Asp) c.*1510A>C (n.*1510A>C) c.9897A>C (p.Glu3299Asp) c.2364A>C (p.Glu788Asp) n.2075A>C c.9948A>C (p.Glu3316Asp) c.9956A>C (n.9956A>C) c.9852A>C (p.Glu3284Asp) | dbSNP |
13 | g.32398461A>G | CA483440027 | BRCA2 | c.*471A>G (n.*471A>G) c.*1315A>G (n.*1315A>G) c.9579A>G (p.Glu3193=) c.*1510A>G (n.*1510A>G) c.9897A>G (p.Glu3299=) c.2364A>G (p.Glu788=) n.2075A>G c.9948A>G (p.Glu3316=) c.9956A>G (n.9956A>G) c.9852A>G (p.Glu3284=) | ClinVar gnomAD v4 |
13 | g.32398461A>T | CA387767292 | BRCA2 | c.*471A>T (n.*471A>T) c.*1315A>T (n.*1315A>T) c.9579A>T (p.Glu3193Asp) c.*1510A>T (n.*1510A>T) c.9897A>T (p.Glu3299Asp) c.2364A>T (p.Glu788Asp) n.2075A>T c.9948A>T (p.Glu3316Asp) c.9956A>T (n.9956A>T) c.9852A>T (p.Glu3284Asp) | dbSNP |
13 | g.32398462C>A | CA387767301 | BRCA2 | c.*472C>A (n.*472C>A) c.*1316C>A (n.*1316C>A) c.9580C>A (p.Leu3194Met) c.*1511C>A (n.*1511C>A) c.9898C>A (p.Leu3300Met) c.2365C>A (p.Leu789Met) n.2076C>A c.9949C>A (p.Leu3317Met) c.9957C>A (n.9957C>A) c.9853C>A (p.Leu3285Met) | dbSNP |
13 | g.32398462C= | CA2082836170 | BRCA2 | c.*472C= (n.*472C=) c.*1316C= (n.*1316C=) c.9580C= (p.Leu3194=) c.*1511C= (n.*1511C=) c.9898C= (p.Leu3300=) c.2365C= (p.Leu789=) n.2076C= c.9949C= (p.Leu3317=) c.9957C= (n.9957C=) c.9853C= (p.Leu3285=) | |
13 | g.32398462C>G | CA387767297 | BRCA2 | c.*472C>G (n.*472C>G) c.*1316C>G (n.*1316C>G) c.9580C>G (p.Leu3194Val) c.*1511C>G (n.*1511C>G) c.9898C>G (p.Leu3300Val) c.2365C>G (p.Leu789Val) n.2076C>G c.9949C>G (p.Leu3317Val) c.9957C>G (n.9957C>G) c.9853C>G (p.Leu3285Val) | dbSNP |
13 | g.32398462C>T | CA026344 | BRCA2 | c.*472C>T (n.*472C>T) c.*1316C>T (n.*1316C>T) c.9580C>T (p.Leu3194=) c.*1511C>T (n.*1511C>T) c.9898C>T (p.Leu3300=) c.2365C>T (p.Leu789=) n.2076C>T c.9949C>T (p.Leu3317=) c.9957C>T (n.9957C>T) c.9853C>T (p.Leu3285=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398463T>A | CA387767306 | BRCA2 | c.*473T>A (n.*473T>A) c.*1317T>A (n.*1317T>A) c.9581T>A (p.Leu3194Gln) c.*1512T>A (n.*1512T>A) c.9899T>A (p.Leu3300Gln) c.2366T>A (p.Leu789Gln) n.2077T>A c.9950T>A (p.Leu3317Gln) c.9958T>A (n.9958T>A) c.9854T>A (p.Leu3285Gln) | ClinVar dbSNP gnomAD v4 |
13 | g.32398463T>C | CA387767309 | BRCA2 | c.*473T>C (n.*473T>C) c.*1317T>C (n.*1317T>C) c.9581T>C (p.Leu3194Pro) c.*1512T>C (n.*1512T>C) c.9899T>C (p.Leu3300Pro) c.2366T>C (p.Leu789Pro) n.2077T>C c.9950T>C (p.Leu3317Pro) c.9958T>C (n.9958T>C) c.9854T>C (p.Leu3285Pro) | |
13 | g.32398463T>G | CA387767319 | BRCA2 | c.*473T>G (n.*473T>G) c.*1317T>G (n.*1317T>G) c.9581T>G (p.Leu3194Arg) c.*1512T>G (n.*1512T>G) c.9899T>G (p.Leu3300Arg) c.2366T>G (p.Leu789Arg) n.2077T>G c.9950T>G (p.Leu3317Arg) c.9958T>G (n.9958T>G) c.9854T>G (p.Leu3285Arg) | |
13 | g.32398463T= | CA2082836175 | BRCA2 | c.*473T= (n.*473T=) c.*1317T= (n.*1317T=) c.9581T= (p.Leu3194=) c.*1512T= (n.*1512T=) c.9899T= (p.Leu3300=) c.2366T= (p.Leu789=) n.2077T= c.9950T= (p.Leu3317=) c.9958T= (n.9958T=) c.9854T= (p.Leu3285=) | |
13 | g.32398464G>A | CA336015 | BRCA2 | c.*474G>A (n.*474G>A) c.*1318G>A (n.*1318G>A) c.9582G>A (p.Leu3194=) c.*1513G>A (n.*1513G>A) c.9900G>A (p.Leu3300=) c.2367G>A (p.Leu789=) n.2078G>A c.9951G>A (p.Leu3317=) c.9959G>A (n.9959G>A) c.9855G>A (p.Leu3285=) | ClinVar dbSNP |
13 | g.32398464G>C | CA483440029 | BRCA2 | c.*474G>C (n.*474G>C) c.*1318G>C (n.*1318G>C) c.9582G>C (p.Leu3194=) c.*1513G>C (n.*1513G>C) c.9900G>C (p.Leu3300=) c.2367G>C (p.Leu789=) n.2078G>C c.9951G>C (p.Leu3317=) c.9959G>C (n.9959G>C) c.9855G>C (p.Leu3285=) | dbSNP |
13 | g.32398464G= | CA2082836184 | BRCA2 | c.*474G= (n.*474G=) c.*1318G= (n.*1318G=) c.9582G= (p.Leu3194=) c.*1513G= (n.*1513G=) c.9900G= (p.Leu3300=) c.2367G= (p.Leu789=) n.2078G= c.9951G= (p.Leu3317=) c.9959G= (n.9959G=) c.9855G= (p.Leu3285=) | |
13 | g.32398464G>T | CA483440030 | BRCA2 | c.*474G>T (n.*474G>T) c.*1318G>T (n.*1318G>T) c.9582G>T (p.Leu3194=) c.*1513G>T (n.*1513G>T) c.9900G>T (p.Leu3300=) c.2367G>T (p.Leu789=) n.2078G>T c.9951G>T (p.Leu3317=) c.9959G>T (n.9959G>T) c.9855G>T (p.Leu3285=) | dbSNP |
13 | g.32398465A= | CA2082836192 | BRCA2 | c.*475A= (n.*475A=) c.*1319A= (n.*1319A=) c.9583A= (p.Asn3195=) c.*1514A= (n.*1514A=) c.9901A= (p.Asn3301=) c.2368A= (p.Asn790=) n.2079A= c.9952A= (p.Asn3318=) c.9960A= (n.9960A=) c.9856A= (p.Asn3286=) | |
13 | g.32398465A>C | CA026346 | BRCA2 | c.*475A>C (n.*475A>C) c.*1319A>C (n.*1319A>C) c.9583A>C (p.Asn3195His) c.*1514A>C (n.*1514A>C) c.9901A>C (p.Asn3301His) c.2368A>C (p.Asn790His) n.2079A>C c.9952A>C (p.Asn3318His) c.9960A>C (n.9960A>C) c.9856A>C (p.Asn3286His) | ClinVar dbSNP gnomAD v4 |
13 | g.32398465A>G | CA387767329 | BRCA2 | c.*475A>G (n.*475A>G) c.*1319A>G (n.*1319A>G) c.9583A>G (p.Asn3195Asp) c.*1514A>G (n.*1514A>G) c.9901A>G (p.Asn3301Asp) c.2368A>G (p.Asn790Asp) n.2079A>G c.9952A>G (p.Asn3318Asp) c.9960A>G (n.9960A>G) c.9856A>G (p.Asn3286Asp) | gnomAD v4 |
13 | g.32398465A>T | CA387767332 | BRCA2 | c.*475A>T (n.*475A>T) c.*1319A>T (n.*1319A>T) c.9583A>T (p.Asn3195Tyr) c.*1514A>T (n.*1514A>T) c.9901A>T (p.Asn3301Tyr) c.2368A>T (p.Asn790Tyr) n.2079A>T c.9952A>T (p.Asn3318Tyr) c.9960A>T (n.9960A>T) c.9856A>T (p.Asn3286Tyr) | dbSNP |
13 | g.32398466A= | CA2082836202 | BRCA2 | c.*476A= (n.*476A=) c.*1320A= (n.*1320A=) c.9584A= (p.Asn3195=) c.*1515A= (n.*1515A=) c.9902A= (p.Asn3301=) c.2369A= (p.Asn790=) n.2080A= c.9953A= (p.Asn3318=) c.9961A= (n.9961A=) c.9857A= (p.Asn3286=) | |
13 | g.32398466A>C | CA387767336 | BRCA2 | c.*476A>C (n.*476A>C) c.*1320A>C (n.*1320A>C) c.9584A>C (p.Asn3195Thr) c.*1515A>C (n.*1515A>C) c.9902A>C (p.Asn3301Thr) c.2369A>C (p.Asn790Thr) n.2080A>C c.9953A>C (p.Asn3318Thr) c.9961A>C (n.9961A>C) c.9857A>C (p.Asn3286Thr) | |
13 | g.32398466A>G | CA16614407 | BRCA2 | c.*476A>G (n.*476A>G) c.*1320A>G (n.*1320A>G) c.9584A>G (p.Asn3195Ser) c.*1515A>G (n.*1515A>G) c.9902A>G (p.Asn3301Ser) c.2369A>G (p.Asn790Ser) n.2080A>G c.9953A>G (p.Asn3318Ser) c.9961A>G (n.9961A>G) c.9857A>G (p.Asn3286Ser) | ClinVar dbSNP |
13 | g.32398466A>T | CA387767339 | BRCA2 | c.*476A>T (n.*476A>T) c.*1320A>T (n.*1320A>T) c.9584A>T (p.Asn3195Ile) c.*1515A>T (n.*1515A>T) c.9902A>T (p.Asn3301Ile) c.2369A>T (p.Asn790Ile) n.2080A>T c.9953A>T (p.Asn3318Ile) c.9961A>T (n.9961A>T) c.9857A>T (p.Asn3286Ile) | dbSNP |
13 | g.32398467T>A | CA387767348 | BRCA2 | c.*477T>A (n.*477T>A) c.*1321T>A (n.*1321T>A) c.9585T>A (p.Asn3195Lys) c.*1516T>A (n.*1516T>A) c.9903T>A (p.Asn3301Lys) c.2370T>A (p.Asn790Lys) n.2081T>A c.9954T>A (p.Asn3318Lys) c.9962T>A (n.9962T>A) c.9858T>A (p.Asn3286Lys) | dbSNP |
13 | g.32398467T>C | CA483440032 | BRCA2 | c.*477T>C (n.*477T>C) c.*1321T>C (n.*1321T>C) c.9585T>C (p.Asn3195=) c.*1516T>C (n.*1516T>C) c.9903T>C (p.Asn3301=) c.2370T>C (p.Asn790=) n.2081T>C c.9954T>C (p.Asn3318=) c.9962T>C (n.9962T>C) c.9858T>C (p.Asn3286=) | dbSNP |
13 | g.32398467T>G | CA387767352 | BRCA2 | c.*477T>G (n.*477T>G) c.*1321T>G (n.*1321T>G) c.9585T>G (p.Asn3195Lys) c.*1516T>G (n.*1516T>G) c.9903T>G (p.Asn3301Lys) c.2370T>G (p.Asn790Lys) n.2081T>G c.9954T>G (p.Asn3318Lys) c.9962T>G (n.9962T>G) c.9858T>G (p.Asn3286Lys) | dbSNP |
13 | g.32398468T>A | CA387767366 | BRCA2 | c.*478T>A (n.*478T>A) c.*1322T>A (n.*1322T>A) c.9586T>A (p.Ser3196Thr) c.*1517T>A (n.*1517T>A) c.9904T>A (p.Ser3302Thr) c.2371T>A (p.Ser791Thr) n.2082T>A c.9955T>A (p.Ser3319Thr) c.9963T>A (n.9963T>A) c.9859T>A (p.Ser3287Thr) | dbSNP |
13 | g.32398468T>C | CA387767359 | BRCA2 | c.*478T>C (n.*478T>C) c.*1322T>C (n.*1322T>C) c.9586T>C (p.Ser3196Pro) c.*1517T>C (n.*1517T>C) c.9904T>C (p.Ser3302Pro) c.2371T>C (p.Ser791Pro) n.2082T>C c.9955T>C (p.Ser3319Pro) c.9963T>C (n.9963T>C) c.9859T>C (p.Ser3287Pro) | dbSNP |
13 | g.32398468T>G | CA387767356 | BRCA2 | c.*478T>G (n.*478T>G) c.*1322T>G (n.*1322T>G) c.9586T>G (p.Ser3196Ala) c.*1517T>G (n.*1517T>G) c.9904T>G (p.Ser3302Ala) c.2371T>G (p.Ser791Ala) n.2082T>G c.9955T>G (p.Ser3319Ala) c.9963T>G (n.9963T>G) c.9859T>G (p.Ser3287Ala) | |
13 | g.32398468_32398471delinsTCTC | CA2082836208 | BRCA2 | c.*478_*481delinsTCTC (n.*478_*481delinsTCTC) c.*1322_*1325delinsTCTC (n.*1322_*1325delinsTCTC) c.9586_9589delinsTCTC (p.Ser3196=) c.*1517_*1520delinsTCTC (n.*1517_*1520delinsTCTC) c.9904_9907delinsTCTC (p.Ser3302=) c.2371_2374delinsTCTC (p.Ser791=) n.2082_2085delinsTCTC c.9955_9958delinsTCTC (p.Ser3319=) c.9963_9966delinsTCTC (n.9963_9966delinsTCTC) c.9859_9862delinsTCTC (p.Ser3287=) | |
13 | g.32398469C>A | CA247509281 | BRCA2 | c.*479C>A (n.*479C>A) c.*1323C>A (n.*1323C>A) c.9587C>A (p.Ser3196Tyr) c.*1518C>A (n.*1518C>A) c.9905C>A (p.Ser3302Tyr) c.2372C>A (p.Ser791Tyr) n.2083C>A c.9956C>A (p.Ser3319Tyr) c.9964C>A (n.9964C>A) c.9860C>A (p.Ser3287Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
13 | g.32398469C= | CA2082836214 | BRCA2 | c.*479C= (n.*479C=) c.*1323C= (n.*1323C=) c.9587C= (p.Ser3196=) c.*1518C= (n.*1518C=) c.9905C= (p.Ser3302=) c.2372C= (p.Ser791=) n.2083C= c.9956C= (p.Ser3319=) c.9964C= (n.9964C=) c.9860C= (p.Ser3287=) | |
13 | g.32398469C>G | CA387767367 | BRCA2 | c.*479C>G (n.*479C>G) c.*1323C>G (n.*1323C>G) c.9587C>G (p.Ser3196Cys) c.*1518C>G (n.*1518C>G) c.9905C>G (p.Ser3302Cys) c.2372C>G (p.Ser791Cys) n.2083C>G c.9956C>G (p.Ser3319Cys) c.9964C>G (n.9964C>G) c.9860C>G (p.Ser3287Cys) | |
13 | g.32398469C>T | CA026347 | BRCA2 | c.*479C>T (n.*479C>T) c.*1323C>T (n.*1323C>T) c.9587C>T (p.Ser3196Phe) c.*1518C>T (n.*1518C>T) c.9905C>T (p.Ser3302Phe) c.2372C>T (p.Ser791Phe) n.2083C>T c.9956C>T (p.Ser3319Phe) c.9964C>T (n.9964C>T) c.9860C>T (p.Ser3287Phe) | ClinVar dbSNP gnomAD v4 |
13 | g.32398472_32398474del | CA6941459 | BRCA2 | c.*482_*484del (n.*482_*484del) c.*1326_*1328del (n.*1326_*1328del) c.9590_9592del (p.Pro3197del) c.*1521_*1523del (n.*1521_*1523del) c.9908_9910del (p.Pro3303del) c.2375_2377del (p.Pro792del) n.2086_2088del c.9959_9961del (p.Pro3320del) c.9967_9969del (n.9967_9969del) c.9863_9865del (p.Pro3288del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32398470T>A | CA483440034 | BRCA2 | c.*480T>A (n.*480T>A) c.*1324T>A (n.*1324T>A) c.9588T>A (p.Ser3196=) c.*1519T>A (n.*1519T>A) c.9906T>A (p.Ser3302=) c.2373T>A (p.Ser791=) n.2084T>A c.9957T>A (p.Ser3319=) c.9965T>A (n.9965T>A) c.9861T>A (p.Ser3287=) | |
13 | g.32398470T>C | CA483440035 | BRCA2 | c.*480T>C (n.*480T>C) c.*1324T>C (n.*1324T>C) c.9588T>C (p.Ser3196=) c.*1519T>C (n.*1519T>C) c.9906T>C (p.Ser3302=) c.2373T>C (p.Ser791=) n.2084T>C c.9957T>C (p.Ser3319=) c.9965T>C (n.9965T>C) c.9861T>C (p.Ser3287=) | |
13 | g.32398470T>G | CA483440036 | BRCA2 | c.*480T>G (n.*480T>G) c.*1324T>G (n.*1324T>G) c.9588T>G (p.Ser3196=) c.*1519T>G (n.*1519T>G) c.9906T>G (p.Ser3302=) c.2373T>G (p.Ser791=) n.2084T>G c.9957T>G (p.Ser3319=) c.9965T>G (n.9965T>G) c.9861T>G (p.Ser3287=) | |
13 | g.32398471C>A | CA387767373 | BRCA2 | c.*481C>A (n.*481C>A) c.*1325C>A (n.*1325C>A) c.9589C>A (p.Pro3197Thr) c.*1520C>A (n.*1520C>A) c.9907C>A (p.Pro3303Thr) c.2374C>A (p.Pro792Thr) n.2085C>A c.9958C>A (p.Pro3320Thr) c.9966C>A (n.9966C>A) c.9862C>A (p.Pro3288Thr) | dbSNP |
13 | g.32398471C= | CA2082836220 | BRCA2 | c.*481C= (n.*481C=) c.*1325C= (n.*1325C=) c.9589C= (p.Pro3197=) c.*1520C= (n.*1520C=) c.9907C= (p.Pro3303=) c.2374C= (p.Pro792=) n.2085C= c.9958C= (p.Pro3320=) c.9966C= (n.9966C=) c.9862C= (p.Pro3288=) | |
13 | g.32398471C>G | CA387767381 | BRCA2 | c.*481C>G (n.*481C>G) c.*1325C>G (n.*1325C>G) c.9589C>G (p.Pro3197Ala) c.*1520C>G (n.*1520C>G) c.9907C>G (p.Pro3303Ala) c.2374C>G (p.Pro792Ala) n.2085C>G c.9958C>G (p.Pro3320Ala) c.9966C>G (n.9966C>G) c.9862C>G (p.Pro3288Ala) | dbSNP |
13 | g.32398471C>T | CA387767384 | BRCA2 | c.*481C>T (n.*481C>T) c.*1325C>T (n.*1325C>T) c.9589C>T (p.Pro3197Ser) c.*1520C>T (n.*1520C>T) c.9907C>T (p.Pro3303Ser) c.2374C>T (p.Pro792Ser) n.2085C>T c.9958C>T (p.Pro3320Ser) c.9966C>T (n.9966C>T) c.9862C>T (p.Pro3288Ser) | ClinVar dbSNP |
13 | g.32398472C>A | CA387767385 | BRCA2 | c.*482C>A (n.*482C>A) c.*1326C>A (n.*1326C>A) c.9590C>A (p.Pro3197His) c.*1521C>A (n.*1521C>A) c.9908C>A (p.Pro3303His) c.2375C>A (p.Pro792His) n.2086C>A c.9959C>A (p.Pro3320His) c.9967C>A (n.9967C>A) c.9863C>A (p.Pro3288His) | dbSNP |
13 | g.32398472C= | CA2082836227 | BRCA2 | c.*482C= (n.*482C=) c.*1326C= (n.*1326C=) c.9590C= (p.Pro3197=) c.*1521C= (n.*1521C=) c.9908C= (p.Pro3303=) c.2375C= (p.Pro792=) n.2086C= c.9959C= (p.Pro3320=) c.9967C= (n.9967C=) c.9863C= (p.Pro3288=) | |
13 | g.32398472C>G | CA387767386 | BRCA2 | c.*482C>G (n.*482C>G) c.*1326C>G (n.*1326C>G) c.9590C>G (p.Pro3197Arg) c.*1521C>G (n.*1521C>G) c.9908C>G (p.Pro3303Arg) c.2375C>G (p.Pro792Arg) n.2086C>G c.9959C>G (p.Pro3320Arg) c.9967C>G (n.9967C>G) c.9863C>G (p.Pro3288Arg) | ClinVar dbSNP |
13 | g.32398472C>T | CA387767387 | BRCA2 | c.*482C>T (n.*482C>T) c.*1326C>T (n.*1326C>T) c.9590C>T (p.Pro3197Leu) c.*1521C>T (n.*1521C>T) c.9908C>T (p.Pro3303Leu) c.2375C>T (p.Pro792Leu) n.2086C>T c.9959C>T (p.Pro3320Leu) c.9967C>T (n.9967C>T) c.9863C>T (p.Pro3288Leu) | ClinVar dbSNP |
13 | g.32398473T>A | CA483440038 | BRCA2 | c.*483T>A (n.*483T>A) c.*1327T>A (n.*1327T>A) c.9591T>A (p.Pro3197=) c.*1522T>A (n.*1522T>A) c.9909T>A (p.Pro3303=) c.2376T>A (p.Pro792=) n.2087T>A c.9960T>A (p.Pro3320=) c.9968T>A (n.9968T>A) c.9864T>A (p.Pro3288=) | ClinVar dbSNP |
13 | g.32398473T>C | CA483440040 | BRCA2 | c.*483T>C (n.*483T>C) c.*1327T>C (n.*1327T>C) c.9591T>C (p.Pro3197=) c.*1522T>C (n.*1522T>C) c.9909T>C (p.Pro3303=) c.2376T>C (p.Pro792=) n.2087T>C c.9960T>C (p.Pro3320=) c.9968T>C (n.9968T>C) c.9864T>C (p.Pro3288=) | dbSNP |
13 | g.32398473T>G | CA483440039 | BRCA2 | c.*483T>G (n.*483T>G) c.*1327T>G (n.*1327T>G) c.9591T>G (p.Pro3197=) c.*1522T>G (n.*1522T>G) c.9909T>G (p.Pro3303=) c.2376T>G (p.Pro792=) n.2087T>G c.9960T>G (p.Pro3320=) c.9968T>G (n.9968T>G) c.9864T>G (p.Pro3288=) | dbSNP |
13 | g.32398474C>A | CA387767388 | BRCA2 | c.*484C>A (n.*484C>A) c.*1328C>A (n.*1328C>A) c.9592C>A (p.Gln3198Lys) c.*1523C>A (n.*1523C>A) c.9910C>A (p.Gln3304Lys) c.2377C>A (p.Gln793Lys) n.2088C>A c.9961C>A (p.Gln3321Lys) c.9969C>A (n.9969C>A) c.9865C>A (p.Gln3289Lys) | dbSNP |
13 | g.32398474C= | CA2082836234 | BRCA2 | c.*484C= (n.*484C=) c.*1328C= (n.*1328C=) c.9592C= (p.Gln3198=) c.*1523C= (n.*1523C=) c.9910C= (p.Gln3304=) c.2377C= (p.Gln793=) n.2088C= c.9961C= (p.Gln3321=) c.9969C= (n.9969C=) c.9865C= (p.Gln3289=) | |
13 | g.32398474C>G | CA387767389 | BRCA2 | c.*484C>G (n.*484C>G) c.*1328C>G (n.*1328C>G) c.9592C>G (p.Gln3198Glu) c.*1523C>G (n.*1523C>G) c.9910C>G (p.Gln3304Glu) c.2377C>G (p.Gln793Glu) n.2088C>G c.9961C>G (p.Gln3321Glu) c.9969C>G (n.9969C>G) c.9865C>G (p.Gln3289Glu) | dbSNP |
13 | g.32398474C>T | CA387767390 | BRCA2 | c.*484C>T (n.*484C>T) c.*1328C>T (n.*1328C>T) c.9592C>T (p.Gln3198Ter) c.*1523C>T (n.*1523C>T) c.9910C>T (p.Gln3304Ter) c.2377C>T (p.Gln793Ter) n.2088C>T c.9961C>T (p.Gln3321Ter) c.9969C>T (n.9969C>T) c.9865C>T (p.Gln3289Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32398475A>C | CA387767398 | BRCA2 | c.*485A>C (n.*485A>C) c.*1329A>C (n.*1329A>C) c.9593A>C (p.Gln3198Pro) c.*1524A>C (n.*1524A>C) c.9911A>C (p.Gln3304Pro) c.2378A>C (p.Gln793Pro) n.2089A>C c.9962A>C (p.Gln3321Pro) c.9970A>C (n.9970A>C) c.9866A>C (p.Gln3289Pro) | |
13 | g.32398475A>G | CA387767397 | BRCA2 | c.*485A>G (n.*485A>G) c.*1329A>G (n.*1329A>G) c.9593A>G (p.Gln3198Arg) c.*1524A>G (n.*1524A>G) c.9911A>G (p.Gln3304Arg) c.2378A>G (p.Gln793Arg) n.2089A>G c.9962A>G (p.Gln3321Arg) c.9970A>G (n.9970A>G) c.9866A>G (p.Gln3289Arg) | |
13 | g.32398475A>T | CA387767394 | BRCA2 | c.*485A>T (n.*485A>T) c.*1329A>T (n.*1329A>T) c.9593A>T (p.Gln3198Leu) c.*1524A>T (n.*1524A>T) c.9911A>T (p.Gln3304Leu) c.2378A>T (p.Gln793Leu) n.2089A>T c.9962A>T (p.Gln3321Leu) c.9970A>T (n.9970A>T) c.9866A>T (p.Gln3289Leu) | dbSNP |
13 | g.32398476G>A | CA483440043 | BRCA2 | c.*486G>A (n.*486G>A) c.*1330G>A (n.*1330G>A) c.9594G>A (p.Gln3198=) c.*1525G>A (n.*1525G>A) c.9912G>A (p.Gln3304=) c.2379G>A (p.Gln793=) n.2090G>A c.9963G>A (p.Gln3321=) c.9971G>A (n.9971G>A) c.9867G>A (p.Gln3289=) | dbSNP |
13 | g.32398476G>C | CA387767400 | BRCA2 | c.*486G>C (n.*486G>C) c.*1330G>C (n.*1330G>C) c.9594G>C (p.Gln3198His) c.*1525G>C (n.*1525G>C) c.9912G>C (p.Gln3304His) c.2379G>C (p.Gln793His) n.2090G>C c.9963G>C (p.Gln3321His) c.9971G>C (n.9971G>C) c.9867G>C (p.Gln3289His) | dbSNP |
13 | g.32398476G= | CA2082836243 | BRCA2 | c.*486G= (n.*486G=) c.*1330G= (n.*1330G=) c.9594G= (p.Gln3198=) c.*1525G= (n.*1525G=) c.9912G= (p.Gln3304=) c.2379G= (p.Gln793=) n.2090G= c.9963G= (p.Gln3321=) c.9971G= (n.9971G=) c.9867G= (p.Gln3289=) | |
13 | g.32398476G>T | CA387767403 | BRCA2 | c.*486G>T (n.*486G>T) c.*1330G>T (n.*1330G>T) c.9594G>T (p.Gln3198His) c.*1525G>T (n.*1525G>T) c.9912G>T (p.Gln3304His) c.2379G>T (p.Gln793His) n.2090G>T c.9963G>T (p.Gln3321His) c.9971G>T (n.9971G>T) c.9867G>T (p.Gln3289His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32398477A>C | CA387767406 | BRCA2 | c.*487A>C (n.*487A>C) c.*1331A>C (n.*1331A>C) c.9595A>C (p.Met3199Leu) c.*1526A>C (n.*1526A>C) c.9913A>C (p.Met3305Leu) c.2380A>C (p.Met794Leu) n.2091A>C c.9964A>C (p.Met3322Leu) c.9972A>C (n.9972A>C) c.9868A>C (p.Met3290Leu) | dbSNP |
13 | g.32398477A>G | CA387767409 | BRCA2 | c.*487A>G (n.*487A>G) c.*1331A>G (n.*1331A>G) c.9595A>G (p.Met3199Val) c.*1526A>G (n.*1526A>G) c.9913A>G (p.Met3305Val) c.2380A>G (p.Met794Val) n.2091A>G c.9964A>G (p.Met3322Val) c.9972A>G (n.9972A>G) c.9868A>G (p.Met3290Val) | |
13 | g.32398477A>T | CA387767410 | BRCA2 | c.*487A>T (n.*487A>T) c.*1331A>T (n.*1331A>T) c.9595A>T (p.Met3199Leu) c.*1526A>T (n.*1526A>T) c.9913A>T (p.Met3305Leu) c.2380A>T (p.Met794Leu) n.2091A>T c.9964A>T (p.Met3322Leu) c.9972A>T (n.9972A>T) c.9868A>T (p.Met3290Leu) | dbSNP |
13 | g.32398478T>A | CA387767415 | BRCA2 | c.*488T>A (n.*488T>A) c.*1332T>A (n.*1332T>A) c.9596T>A (p.Met3199Lys) c.*1527T>A (n.*1527T>A) c.9914T>A (p.Met3305Lys) c.2381T>A (p.Met794Lys) n.2092T>A c.9965T>A (p.Met3322Lys) c.9973T>A (n.9973T>A) c.9869T>A (p.Met3290Lys) | dbSNP |
13 | g.32398478T>C | CA387767419 | BRCA2 | c.*488T>C (n.*488T>C) c.*1332T>C (n.*1332T>C) c.9596T>C (p.Met3199Thr) c.*1527T>C (n.*1527T>C) c.9914T>C (p.Met3305Thr) c.2381T>C (p.Met794Thr) n.2092T>C c.9965T>C (p.Met3322Thr) c.9973T>C (n.9973T>C) c.9869T>C (p.Met3290Thr) | ClinVar dbSNP |
13 | g.32398478T>G | CA387767423 | BRCA2 | c.*488T>G (n.*488T>G) c.*1332T>G (n.*1332T>G) c.9596T>G (p.Met3199Arg) c.*1527T>G (n.*1527T>G) c.9914T>G (p.Met3305Arg) c.2381T>G (p.Met794Arg) n.2092T>G c.9965T>G (p.Met3322Arg) c.9973T>G (n.9973T>G) c.9869T>G (p.Met3290Arg) | dbSNP |
13 | g.32398478T= | CA2082836248 | BRCA2 | c.*488T= (n.*488T=) c.*1332T= (n.*1332T=) c.9596T= (p.Met3199=) c.*1527T= (n.*1527T=) c.9914T= (p.Met3305=) c.2381T= (p.Met794=) n.2092T= c.9965T= (p.Met3322=) c.9973T= (n.9973T=) c.9869T= (p.Met3290=) | |
13 | g.32398479G>A | CA387767426 | BRCA2 | c.*489G>A (n.*489G>A) c.*1333G>A (n.*1333G>A) c.9597G>A (p.Met3199Ile) c.*1528G>A (n.*1528G>A) c.9915G>A (p.Met3305Ile) c.2382G>A (p.Met794Ile) n.2093G>A c.9966G>A (p.Met3322Ile) c.9974G>A (n.9974G>A) c.9870G>A (p.Met3290Ile) | dbSNP |
13 | g.32398479G>C | CA387767429 | BRCA2 | c.*489G>C (n.*489G>C) c.*1333G>C (n.*1333G>C) c.9597G>C (p.Met3199Ile) c.*1528G>C (n.*1528G>C) c.9915G>C (p.Met3305Ile) c.2382G>C (p.Met794Ile) n.2093G>C c.9966G>C (p.Met3322Ile) c.9974G>C (n.9974G>C) c.9870G>C (p.Met3290Ile) | dbSNP |
13 | g.32398479G>T | CA387767430 | BRCA2 | c.*489G>T (n.*489G>T) c.*1333G>T (n.*1333G>T) c.9597G>T (p.Met3199Ile) c.*1528G>T (n.*1528G>T) c.9915G>T (p.Met3305Ile) c.2382G>T (p.Met794Ile) n.2093G>T c.9966G>T (p.Met3322Ile) c.9974G>T (n.9974G>T) c.9870G>T (p.Met3290Ile) | ClinVar dbSNP COSMIC |
13 | g.32398480A>C | CA387767431 | BRCA2 | c.*490A>C (n.*490A>C) c.*1334A>C (n.*1334A>C) c.9598A>C (p.Thr3200Pro) c.*1529A>C (n.*1529A>C) c.9916A>C (p.Thr3306Pro) c.2383A>C (p.Thr795Pro) n.2094A>C c.9967A>C (p.Thr3323Pro) c.9975A>C (n.9975A>C) c.9871A>C (p.Thr3291Pro) | dbSNP |
13 | g.32398480A>G | CA387767432 | BRCA2 | c.*490A>G (n.*490A>G) c.*1334A>G (n.*1334A>G) c.9598A>G (p.Thr3200Ala) c.*1529A>G (n.*1529A>G) c.9916A>G (p.Thr3306Ala) c.2383A>G (p.Thr795Ala) n.2094A>G c.9967A>G (p.Thr3323Ala) c.9975A>G (n.9975A>G) c.9871A>G (p.Thr3291Ala) | |
13 | g.32398480A>T | CA387767435 | BRCA2 | c.*490A>T (n.*490A>T) c.*1334A>T (n.*1334A>T) c.9598A>T (p.Thr3200Ser) c.*1529A>T (n.*1529A>T) c.9916A>T (p.Thr3306Ser) c.2383A>T (p.Thr795Ser) n.2094A>T c.9967A>T (p.Thr3323Ser) c.9975A>T (n.9975A>T) c.9871A>T (p.Thr3291Ser) | dbSNP |
13 | g.32398480dup | CA2622602759 | BRCA2 | c.*490dup (n.*490dup) c.*1334dup (n.*1334dup) c.9598dup (p.Thr3200AsnfsTer4) c.*1529dup (n.*1529dup) c.9916dup (p.Thr3306AsnfsTer4) c.2383dup (p.Thr795AsnfsTer4) n.2094dup c.9967dup (p.Thr3323AsnfsTer4) c.9975dup (n.9975dup) c.9871dup (p.Thr3291AsnfsTer4) | gnomAD v4 |
13 | g.32398481C>A | CA387767438 | BRCA2 | c.*491C>A (n.*491C>A) c.*1335C>A (n.*1335C>A) c.9599C>A (p.Thr3200Asn) c.*1530C>A (n.*1530C>A) c.9917C>A (p.Thr3306Asn) c.2384C>A (p.Thr795Asn) n.2095C>A c.9968C>A (p.Thr3323Asn) c.9976C>A (n.9976C>A) c.9872C>A (p.Thr3291Asn) | dbSNP |
13 | g.32398481C= | CA2082836257 | BRCA2 | c.*491C= (n.*491C=) c.*1335C= (n.*1335C=) c.9599C= (p.Thr3200=) c.*1530C= (n.*1530C=) c.9917C= (p.Thr3306=) c.2384C= (p.Thr795=) n.2095C= c.9968C= (p.Thr3323=) c.9976C= (n.9976C=) c.9872C= (p.Thr3291=) | |
13 | g.32398481C>G | CA387767443 | BRCA2 | c.*491C>G (n.*491C>G) c.*1335C>G (n.*1335C>G) c.9599C>G (p.Thr3200Ser) c.*1530C>G (n.*1530C>G) c.9917C>G (p.Thr3306Ser) c.2384C>G (p.Thr795Ser) n.2095C>G c.9968C>G (p.Thr3323Ser) c.9976C>G (n.9976C>G) c.9872C>G (p.Thr3291Ser) | dbSNP |
13 | g.32398481C>T | CA387767437 | BRCA2 | c.*491C>T (n.*491C>T) c.*1335C>T (n.*1335C>T) c.9599C>T (p.Thr3200Ile) c.*1530C>T (n.*1530C>T) c.9917C>T (p.Thr3306Ile) c.2384C>T (p.Thr795Ile) n.2095C>T c.9968C>T (p.Thr3323Ile) c.9976C>T (n.9976C>T) c.9872C>T (p.Thr3291Ile) | ClinVar dbSNP |
13 | g.32398482T>A | CA483440050 | BRCA2 | c.*492T>A (n.*492T>A) c.*1336T>A (n.*1336T>A) c.9600T>A (p.Thr3200=) c.*1531T>A (n.*1531T>A) c.9918T>A (p.Thr3306=) c.2385T>A (p.Thr795=) n.2096T>A c.9969T>A (p.Thr3323=) c.9977T>A (n.9977T>A) c.9873T>A (p.Thr3291=) | ClinVar |
13 | g.32398482T>C | CA483440049 | BRCA2 | c.*492T>C (n.*492T>C) c.*1336T>C (n.*1336T>C) c.9600T>C (p.Thr3200=) c.*1531T>C (n.*1531T>C) c.9918T>C (p.Thr3306=) c.2385T>C (p.Thr795=) n.2096T>C c.9969T>C (p.Thr3323=) c.9977T>C (n.9977T>C) c.9873T>C (p.Thr3291=) | |
13 | g.32398482T>G | CA483440048 | BRCA2 | c.*492T>G (n.*492T>G) c.*1336T>G (n.*1336T>G) c.9600T>G (p.Thr3200=) c.*1531T>G (n.*1531T>G) c.9918T>G (p.Thr3306=) c.2385T>G (p.Thr795=) n.2096T>G c.9969T>G (p.Thr3323=) c.9977T>G (n.9977T>G) c.9873T>G (p.Thr3291=) | |
13 | g.32398483C>A | CA387767447 | BRCA2 | c.*493C>A (n.*493C>A) c.*1337C>A (n.*1337C>A) c.9601C>A (p.Pro3201Thr) c.*1532C>A (n.*1532C>A) c.9919C>A (p.Pro3307Thr) c.2386C>A (p.Pro796Thr) n.2097C>A c.9970C>A (p.Pro3324Thr) c.9978C>A (n.9978C>A) c.9874C>A (p.Pro3292Thr) | dbSNP |
13 | g.32398483C>G | CA387767450 | BRCA2 | c.*493C>G (n.*493C>G) c.*1337C>G (n.*1337C>G) c.9601C>G (p.Pro3201Ala) c.*1532C>G (n.*1532C>G) c.9919C>G (p.Pro3307Ala) c.2386C>G (p.Pro796Ala) n.2097C>G c.9970C>G (p.Pro3324Ala) c.9978C>G (n.9978C>G) c.9874C>G (p.Pro3292Ala) | dbSNP gnomAD v4 |
13 | g.32398483C>T | CA387767454 | BRCA2 | c.*493C>T (n.*493C>T) c.*1337C>T (n.*1337C>T) c.9601C>T (p.Pro3201Ser) c.*1532C>T (n.*1532C>T) c.9919C>T (p.Pro3307Ser) c.2386C>T (p.Pro796Ser) n.2097C>T c.9970C>T (p.Pro3324Ser) c.9978C>T (n.9978C>T) c.9874C>T (p.Pro3292Ser) | ClinVar dbSNP |
13 | g.32398484C>A | CA387767460 | BRCA2 | c.*494C>A (n.*494C>A) c.*1338C>A (n.*1338C>A) c.9602C>A (p.Pro3201Gln) c.*1533C>A (n.*1533C>A) c.9920C>A (p.Pro3307Gln) c.2387C>A (p.Pro796Gln) n.2098C>A c.9971C>A (p.Pro3324Gln) c.9979C>A (n.9979C>A) c.9875C>A (p.Pro3292Gln) | ClinVar dbSNP |
13 | g.32398484C= | CA2082836267 | BRCA2 | c.*494C= (n.*494C=) c.*1338C= (n.*1338C=) c.9602C= (p.Pro3201=) c.*1533C= (n.*1533C=) c.9920C= (p.Pro3307=) c.2387C= (p.Pro796=) n.2098C= c.9971C= (p.Pro3324=) c.9979C= (n.9979C=) c.9875C= (p.Pro3292=) | |
13 | g.32398484C>G | CA387767464 | BRCA2 | c.*494C>G (n.*494C>G) c.*1338C>G (n.*1338C>G) c.9602C>G (p.Pro3201Arg) c.*1533C>G (n.*1533C>G) c.9920C>G (p.Pro3307Arg) c.2387C>G (p.Pro796Arg) n.2098C>G c.9971C>G (p.Pro3324Arg) c.9979C>G (n.9979C>G) c.9875C>G (p.Pro3292Arg) | ClinVar dbSNP |
13 | g.32398484C>T | CA387767467 | BRCA2 | c.*494C>T (n.*494C>T) c.*1338C>T (n.*1338C>T) c.9602C>T (p.Pro3201Leu) c.*1533C>T (n.*1533C>T) c.9920C>T (p.Pro3307Leu) c.2387C>T (p.Pro796Leu) n.2098C>T c.9971C>T (p.Pro3324Leu) c.9979C>T (n.9979C>T) c.9875C>T (p.Pro3292Leu) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32398485A= | CA2082836285 | BRCA2 | c.*495A= (n.*495A=) c.*1339A= (n.*1339A=) c.9603A= (p.Pro3201=) c.*1534A= (n.*1534A=) c.9921A= (p.Pro3307=) c.2388A= (p.Pro796=) n.2099A= c.9972A= (p.Pro3324=) c.9980A= (n.9980A=) c.9876A= (p.Pro3292=) | |
13 | g.32398485A>C | CA483440053 | BRCA2 | c.*495A>C (n.*495A>C) c.*1339A>C (n.*1339A>C) c.9603A>C (p.Pro3201=) c.*1534A>C (n.*1534A>C) c.9921A>C (p.Pro3307=) c.2388A>C (p.Pro796=) n.2099A>C c.9972A>C (p.Pro3324=) c.9980A>C (n.9980A>C) c.9876A>C (p.Pro3292=) | |
13 | g.32398485A>G | CA026349 | BRCA2 | c.*495A>G (n.*495A>G) c.*1339A>G (n.*1339A>G) c.9603A>G (p.Pro3201=) c.*1534A>G (n.*1534A>G) c.9921A>G (p.Pro3307=) c.2388A>G (p.Pro796=) n.2099A>G c.9972A>G (p.Pro3324=) c.9980A>G (n.9980A>G) c.9876A>G (p.Pro3292=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398485A>T | CA483440055 | BRCA2 | c.*495A>T (n.*495A>T) c.*1339A>T (n.*1339A>T) c.9603A>T (p.Pro3201=) c.*1534A>T (n.*1534A>T) c.9921A>T (p.Pro3307=) c.2388A>T (p.Pro796=) n.2099A>T c.9972A>T (p.Pro3324=) c.9980A>T (n.9980A>T) c.9876A>T (p.Pro3292=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32398486T>A | CA387767471 | BRCA2 | c.*496T>A (n.*496T>A) c.*1340T>A (n.*1340T>A) c.9604T>A (p.Phe3202Ile) c.*1535T>A (n.*1535T>A) c.9922T>A (p.Phe3308Ile) c.2389T>A (p.Phe797Ile) n.2100T>A c.9973T>A (p.Phe3325Ile) c.9981T>A (n.9981T>A) c.9877T>A (p.Phe3293Ile) | dbSNP |
13 | g.32398486T>C | CA387767473 | BRCA2 | c.*496T>C (n.*496T>C) c.*1340T>C (n.*1340T>C) c.9604T>C (p.Phe3202Leu) c.*1535T>C (n.*1535T>C) c.9922T>C (p.Phe3308Leu) c.2389T>C (p.Phe797Leu) n.2100T>C c.9973T>C (p.Phe3325Leu) c.9981T>C (n.9981T>C) c.9877T>C (p.Phe3293Leu) | ClinVar dbSNP |
13 | g.32398486T>G | CA387767475 | BRCA2 | c.*496T>G (n.*496T>G) c.*1340T>G (n.*1340T>G) c.9604T>G (p.Phe3202Val) c.*1535T>G (n.*1535T>G) c.9922T>G (p.Phe3308Val) c.2389T>G (p.Phe797Val) n.2100T>G c.9973T>G (p.Phe3325Val) c.9981T>G (n.9981T>G) c.9877T>G (p.Phe3293Val) | ClinVar dbSNP |
13 | g.32398486T= | CA2082836289 | BRCA2 | c.*496T= (n.*496T=) c.*1340T= (n.*1340T=) c.9604T= (p.Phe3202=) c.*1535T= (n.*1535T=) c.9922T= (p.Phe3308=) c.2389T= (p.Phe797=) n.2100T= c.9973T= (p.Phe3325=) c.9981T= (n.9981T=) c.9877T= (p.Phe3293=) | |
13 | g.32398488dup | CA2695217835 | BRCA2 | c.*498dup (n.*498dup) c.*1342dup (n.*1342dup) c.9606dup (p.Lys3203Ter) c.*1537dup (n.*1537dup) c.9924dup (p.Lys3309Ter) c.2391dup (p.Lys798Ter) n.2102dup c.9975dup (p.Lys3326Ter) c.9983dup (n.9983dup) c.9879dup (p.Lys3294Ter) | |
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.32398487T>A | CA387767480 | BRCA2 | c.*497T>A (n.*497T>A) c.*1341T>A (n.*1341T>A) c.9605T>A (p.Phe3202Tyr) c.*1536T>A (n.*1536T>A) c.9923T>A (p.Phe3308Tyr) c.2390T>A (p.Phe797Tyr) n.2101T>A c.9974T>A (p.Phe3325Tyr) c.9982T>A (n.9982T>A) c.9878T>A (p.Phe3293Tyr) | |
13 | g.32398487T>C | CA387767482 | BRCA2 | c.*497T>C (n.*497T>C) c.*1341T>C (n.*1341T>C) c.9605T>C (p.Phe3202Ser) c.*1536T>C (n.*1536T>C) c.9923T>C (p.Phe3308Ser) c.2390T>C (p.Phe797Ser) n.2101T>C c.9974T>C (p.Phe3325Ser) c.9982T>C (n.9982T>C) c.9878T>C (p.Phe3293Ser) | |
13 | g.32398487T>G | CA387767485 | BRCA2 | c.*497T>G (n.*497T>G) c.*1341T>G (n.*1341T>G) c.9605T>G (p.Phe3202Cys) c.*1536T>G (n.*1536T>G) c.9923T>G (p.Phe3308Cys) c.2390T>G (p.Phe797Cys) n.2101T>G c.9974T>G (p.Phe3325Cys) c.9982T>G (n.9982T>G) c.9878T>G (p.Phe3293Cys) | |
13 | g.32398488T>A | CA387767487 | BRCA2 | c.*498T>A (n.*498T>A) c.*1342T>A (n.*1342T>A) c.9606T>A (p.Phe3202Leu) c.*1537T>A (n.*1537T>A) c.9924T>A (p.Phe3308Leu) c.2391T>A (p.Phe797Leu) n.2102T>A c.9975T>A (p.Phe3325Leu) c.9983T>A (n.9983T>A) c.9879T>A (p.Phe3293Leu) | |
13 | g.32398488T>C | CA483440059 | BRCA2 | c.*498T>C (n.*498T>C) c.*1342T>C (n.*1342T>C) c.9606T>C (p.Phe3202=) c.*1537T>C (n.*1537T>C) c.9924T>C (p.Phe3308=) c.2391T>C (p.Phe797=) n.2102T>C c.9975T>C (p.Phe3325=) c.9983T>C (n.9983T>C) c.9879T>C (p.Phe3293=) | |
13 | g.32398488T>G | CA387767501 | BRCA2 | c.*498T>G (n.*498T>G) c.*1342T>G (n.*1342T>G) c.9606T>G (p.Phe3202Leu) c.*1537T>G (n.*1537T>G) c.9924T>G (p.Phe3308Leu) c.2391T>G (p.Phe797Leu) n.2102T>G c.9975T>G (p.Phe3325Leu) c.9983T>G (n.9983T>G) c.9879T>G (p.Phe3293Leu) | ClinVar |
13 | g.32398488T= | CA2082836292 | BRCA2 | c.*498T= (n.*498T=) c.*1342T= (n.*1342T=) c.9606T= (p.Phe3202=) c.*1537T= (n.*1537T=) c.9924T= (p.Phe3308=) c.2391T= (p.Phe797=) n.2102T= c.9975T= (p.Phe3325=) c.9983T= (n.9983T=) c.9879T= (p.Phe3293=) | |
13 | g.32398489A= | CA2082836301 | BRCA2 | c.*499A= (n.*499A=) c.*1343A= (n.*1343A=) c.9607A= (p.Lys3203=) c.*1538A= (n.*1538A=) c.9925A= (p.Lys3309=) c.2392A= (p.Lys798=) n.2103A= c.9976A= (p.Lys3326=) c.9984A= (n.9984A=) c.9880A= (p.Lys3294=) | |
13 | g.32398489A>C | CA387767504 | BRCA2 | c.*499A>C (n.*499A>C) c.*1343A>C (n.*1343A>C) c.9607A>C (p.Lys3203Gln) c.*1538A>C (n.*1538A>C) c.9925A>C (p.Lys3309Gln) c.2392A>C (p.Lys798Gln) n.2103A>C c.9976A>C (p.Lys3326Gln) c.9984A>C (n.9984A>C) c.9880A>C (p.Lys3294Gln) | |
13 | g.32398489A>G | CA387767507 | BRCA2 | c.*499A>G (n.*499A>G) c.*1343A>G (n.*1343A>G) c.9607A>G (p.Lys3203Glu) c.*1538A>G (n.*1538A>G) c.9925A>G (p.Lys3309Glu) c.2392A>G (p.Lys798Glu) n.2103A>G c.9976A>G (p.Lys3326Glu) c.9984A>G (n.9984A>G) c.9880A>G (p.Lys3294Glu) | |
13 | g.32398489A>T | CA026350 | BRCA2 | c.*499A>T (n.*499A>T) c.*1343A>T (n.*1343A>T) c.9607A>T (p.Lys3203Ter) c.*1538A>T (n.*1538A>T) c.9925A>T (p.Lys3309Ter) c.2392A>T (p.Lys798Ter) n.2103A>T c.9976A>T (p.Lys3326Ter) c.9984A>T (n.9984A>T) c.9880A>T (p.Lys3294Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398494dup | CA609453953 | BRCA2 | c.*504dup (n.*504dup) c.*1348dup (n.*1348dup) c.9612dup (p.Phe3205IlefsTer3) c.*1543dup (n.*1543dup) c.9930dup (p.Phe3311IlefsTer3) c.2397dup (p.Phe800IlefsTer3) n.2108dup c.9981dup (p.Phe3328IlefsTer3) c.9989dup (n.9989dup) c.9885dup (p.Phe3296IlefsTer3) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32398494del | CA2580087480 | BRCA2 | c.*504del (n.*504del) c.*1348del (n.*1348del) c.9612del (p.Lys3204AsnfsTer13) c.*1543del (n.*1543del) c.9930del (p.Lys3310AsnfsTer13) c.2397del (p.Lys799AsnfsTer13) n.2108del c.9981del (p.Lys3327AsnfsTer13) c.9989del (n.9989del) c.9885del (p.Lys3295AsnfsTer13) | ClinVar gnomAD v4 |
13 | g.32398490A= | CA2082836307 | BRCA2 | c.*500A= (n.*500A=) c.*1344A= (n.*1344A=) c.9608A= (p.Lys3203=) c.*1539A= (n.*1539A=) c.9926A= (p.Lys3309=) c.2393A= (p.Lys798=) n.2104A= c.9977A= (p.Lys3326=) c.9985A= (n.9985A=) c.9881A= (p.Lys3294=) | |
13 | g.32398490A>C | CA387767514 | BRCA2 | c.*500A>C (n.*500A>C) c.*1344A>C (n.*1344A>C) c.9608A>C (p.Lys3203Thr) c.*1539A>C (n.*1539A>C) c.9926A>C (p.Lys3309Thr) c.2393A>C (p.Lys798Thr) n.2104A>C c.9977A>C (p.Lys3326Thr) c.9985A>C (n.9985A>C) c.9881A>C (p.Lys3294Thr) | ClinVar dbSNP |
13 | g.32398490A>G | CA387767519 | BRCA2 | c.*500A>G (n.*500A>G) c.*1344A>G (n.*1344A>G) c.9608A>G (p.Lys3203Arg) c.*1539A>G (n.*1539A>G) c.9926A>G (p.Lys3309Arg) c.2393A>G (p.Lys798Arg) n.2104A>G c.9977A>G (p.Lys3326Arg) c.9985A>G (n.9985A>G) c.9881A>G (p.Lys3294Arg) | |
13 | g.32398490A>T | CA387767523 | BRCA2 | c.*500A>T (n.*500A>T) c.*1344A>T (n.*1344A>T) c.9608A>T (p.Lys3203Ile) c.*1539A>T (n.*1539A>T) c.9926A>T (p.Lys3309Ile) c.2393A>T (p.Lys798Ile) n.2104A>T c.9977A>T (p.Lys3326Ile) c.9985A>T (n.9985A>T) c.9881A>T (p.Lys3294Ile) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32398491A>C | CA387767528 | BRCA2 | c.*501A>C (n.*501A>C) c.*1345A>C (n.*1345A>C) c.9609A>C (p.Lys3203Asn) c.*1540A>C (n.*1540A>C) c.9927A>C (p.Lys3309Asn) c.2394A>C (p.Lys798Asn) n.2105A>C c.9978A>C (p.Lys3326Asn) c.9986A>C (n.9986A>C) c.9882A>C (p.Lys3294Asn) | |
13 | g.32398491A>G | CA483440062 | BRCA2 | c.*501A>G (n.*501A>G) c.*1345A>G (n.*1345A>G) c.9609A>G (p.Lys3203=) c.*1540A>G (n.*1540A>G) c.9927A>G (p.Lys3309=) c.2394A>G (p.Lys798=) n.2105A>G c.9978A>G (p.Lys3326=) c.9986A>G (n.9986A>G) c.9882A>G (p.Lys3294=) | ClinVar dbSNP |
13 | g.32398491A>T | CA387767531 | BRCA2 | c.*501A>T (n.*501A>T) c.*1345A>T (n.*1345A>T) c.9609A>T (p.Lys3203Asn) c.*1540A>T (n.*1540A>T) c.9927A>T (p.Lys3309Asn) c.2394A>T (p.Lys798Asn) n.2105A>T c.9978A>T (p.Lys3326Asn) c.9986A>T (n.9986A>T) c.9882A>T (p.Lys3294Asn) | |
13 | g.32398492A>C | CA387767533 | BRCA2 | c.*502A>C (n.*502A>C) c.*1346A>C (n.*1346A>C) c.9610A>C (p.Lys3204Gln) c.*1541A>C (n.*1541A>C) c.9928A>C (p.Lys3310Gln) c.2395A>C (p.Lys799Gln) n.2106A>C c.9979A>C (p.Lys3327Gln) c.9987A>C (n.9987A>C) c.9883A>C (p.Lys3295Gln) | |
13 | g.32398492A>G | CA387767534 | BRCA2 | c.*502A>G (n.*502A>G) c.*1346A>G (n.*1346A>G) c.9610A>G (p.Lys3204Glu) c.*1541A>G (n.*1541A>G) c.9928A>G (p.Lys3310Glu) c.2395A>G (p.Lys799Glu) n.2106A>G c.9979A>G (p.Lys3327Glu) c.9987A>G (n.9987A>G) c.9883A>G (p.Lys3295Glu) | dbSNP |
13 | g.32398492A>T | CA387767535 | BRCA2 | c.*502A>T (n.*502A>T) c.*1346A>T (n.*1346A>T) c.9610A>T (p.Lys3204Ter) c.*1541A>T (n.*1541A>T) c.9928A>T (p.Lys3310Ter) c.2395A>T (p.Lys799Ter) n.2106A>T c.9979A>T (p.Lys3327Ter) c.9987A>T (n.9987A>T) c.9883A>T (p.Lys3295Ter) | dbSNP |
13 | g.32398493A>C | CA387767541 | BRCA2 | c.*503A>C (n.*503A>C) c.*1347A>C (n.*1347A>C) c.9611A>C (p.Lys3204Thr) c.*1542A>C (n.*1542A>C) c.9929A>C (p.Lys3310Thr) c.2396A>C (p.Lys799Thr) n.2107A>C c.9980A>C (p.Lys3327Thr) c.9988A>C (n.9988A>C) c.9884A>C (p.Lys3295Thr) | gnomAD v4 |
13 | g.32398493A>G | CA387767538 | BRCA2 | c.*503A>G (n.*503A>G) c.*1347A>G (n.*1347A>G) c.9611A>G (p.Lys3204Arg) c.*1542A>G (n.*1542A>G) c.9929A>G (p.Lys3310Arg) c.2396A>G (p.Lys799Arg) n.2107A>G c.9980A>G (p.Lys3327Arg) c.9988A>G (n.9988A>G) c.9884A>G (p.Lys3295Arg) | |
13 | g.32398493A>T | CA387767536 | BRCA2 | c.*503A>T (n.*503A>T) c.*1347A>T (n.*1347A>T) c.9611A>T (p.Lys3204Ile) c.*1542A>T (n.*1542A>T) c.9929A>T (p.Lys3310Ile) c.2396A>T (p.Lys799Ile) n.2107A>T c.9980A>T (p.Lys3327Ile) c.9988A>T (n.9988A>T) c.9884A>T (p.Lys3295Ile) | dbSNP |
13 | g.32398494A= | CA2082836316 | BRCA2 | c.*504A= (n.*504A=) c.*1348A= (n.*1348A=) c.9612A= (p.Lys3204=) c.*1543A= (n.*1543A=) c.9930A= (p.Lys3310=) c.2397A= (p.Lys799=) n.2108A= c.9981A= (p.Lys3327=) c.9989A= (n.9989A=) c.9885A= (p.Lys3295=) | |
13 | g.32398494A>C | CA387767542 | BRCA2 | c.*504A>C (n.*504A>C) c.*1348A>C (n.*1348A>C) c.9612A>C (p.Lys3204Asn) c.*1543A>C (n.*1543A>C) c.9930A>C (p.Lys3310Asn) c.2397A>C (p.Lys799Asn) n.2108A>C c.9981A>C (p.Lys3327Asn) c.9989A>C (n.9989A>C) c.9885A>C (p.Lys3295Asn) | |
13 | g.32398494A>G | CA483440067 | BRCA2 | c.*504A>G (n.*504A>G) c.*1348A>G (n.*1348A>G) c.9612A>G (p.Lys3204=) c.*1543A>G (n.*1543A>G) c.9930A>G (p.Lys3310=) c.2397A>G (p.Lys799=) n.2108A>G c.9981A>G (p.Lys3327=) c.9989A>G (n.9989A>G) c.9885A>G (p.Lys3295=) | dbSNP |
13 | g.32398494A>T | CA026351 | BRCA2 | c.*504A>T (n.*504A>T) c.*1348A>T (n.*1348A>T) c.9612A>T (p.Lys3204Asn) c.*1543A>T (n.*1543A>T) c.9930A>T (p.Lys3310Asn) c.2397A>T (p.Lys799Asn) n.2108A>T c.9981A>T (p.Lys3327Asn) c.9989A>T (n.9989A>T) c.9885A>T (p.Lys3295Asn) | ClinVar dbSNP |
13 | g.32398495T>A | CA387767543 | BRCA2 | c.*505T>A (n.*505T>A) c.*1349T>A (n.*1349T>A) c.9613T>A (p.Phe3205Ile) c.*1544T>A (n.*1544T>A) c.9931T>A (p.Phe3311Ile) c.2398T>A (p.Phe800Ile) n.2109T>A c.9982T>A (p.Phe3328Ile) c.9990T>A (n.9990T>A) c.9886T>A (p.Phe3296Ile) | dbSNP |
13 | g.32398495T>C | CA387767546 | BRCA2 | c.*505T>C (n.*505T>C) c.*1349T>C (n.*1349T>C) c.9613T>C (p.Phe3205Leu) c.*1544T>C (n.*1544T>C) c.9931T>C (p.Phe3311Leu) c.2398T>C (p.Phe800Leu) n.2109T>C c.9982T>C (p.Phe3328Leu) c.9990T>C (n.9990T>C) c.9886T>C (p.Phe3296Leu) | dbSNP gnomAD v4 |
13 | g.32398495T>G | CA387767545 | BRCA2 | c.*505T>G (n.*505T>G) c.*1349T>G (n.*1349T>G) c.9613T>G (p.Phe3205Val) c.*1544T>G (n.*1544T>G) c.9931T>G (p.Phe3311Val) c.2398T>G (p.Phe800Val) n.2109T>G c.9982T>G (p.Phe3328Val) c.9990T>G (n.9990T>G) c.9886T>G (p.Phe3296Val) | |
13 | g.32398496T>A | CA387767552 | BRCA2 | c.*506T>A (n.*506T>A) c.*1350T>A (n.*1350T>A) c.9614T>A (p.Phe3205Tyr) c.*1545T>A (n.*1545T>A) c.9932T>A (p.Phe3311Tyr) c.2399T>A (p.Phe800Tyr) n.2110T>A c.9983T>A (p.Phe3328Tyr) c.9991T>A (n.9991T>A) c.9887T>A (p.Phe3296Tyr) | dbSNP |
13 | g.32398496T>C | CA387767564 | BRCA2 | c.*506T>C (n.*506T>C) c.*1350T>C (n.*1350T>C) c.9614T>C (p.Phe3205Ser) c.*1545T>C (n.*1545T>C) c.9932T>C (p.Phe3311Ser) c.2399T>C (p.Phe800Ser) n.2110T>C c.9983T>C (p.Phe3328Ser) c.9991T>C (n.9991T>C) c.9887T>C (p.Phe3296Ser) | |
13 | g.32398496T>G | CA6941460 | BRCA2 | c.*506T>G (n.*506T>G) c.*1350T>G (n.*1350T>G) c.9614T>G (p.Phe3205Cys) c.*1545T>G (n.*1545T>G) c.9932T>G (p.Phe3311Cys) c.2399T>G (p.Phe800Cys) n.2110T>G c.9983T>G (p.Phe3328Cys) c.9991T>G (n.9991T>G) c.9887T>G (p.Phe3296Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398496T= | CA2082836325 | BRCA2 | c.*506T= (n.*506T=) c.*1350T= (n.*1350T=) c.9614T= (p.Phe3205=) c.*1545T= (n.*1545T=) c.9932T= (p.Phe3311=) c.2399T= (p.Phe800=) n.2110T= c.9983T= (p.Phe3328=) c.9991T= (n.9991T=) c.9887T= (p.Phe3296=) | |
13 | g.32398497C>A | CA387767566 | BRCA2 | c.*507C>A (n.*507C>A) c.*1351C>A (n.*1351C>A) c.9615C>A (p.Phe3205Leu) c.*1546C>A (n.*1546C>A) c.9933C>A (p.Phe3311Leu) c.2400C>A (p.Phe800Leu) n.2111C>A c.9984C>A (p.Phe3328Leu) c.9992C>A (n.9992C>A) c.9888C>A (p.Phe3296Leu) | dbSNP |
13 | g.32398497C>G | CA387767569 | BRCA2 | c.*507C>G (n.*507C>G) c.*1351C>G (n.*1351C>G) c.9615C>G (p.Phe3205Leu) c.*1546C>G (n.*1546C>G) c.9933C>G (p.Phe3311Leu) c.2400C>G (p.Phe800Leu) n.2111C>G c.9984C>G (p.Phe3328Leu) c.9992C>G (n.9992C>G) c.9888C>G (p.Phe3296Leu) | dbSNP gnomAD v4 |
13 | g.32398497C>T | CA483440074 | BRCA2 | c.*507C>T (n.*507C>T) c.*1351C>T (n.*1351C>T) c.9615C>T (p.Phe3205=) c.*1546C>T (n.*1546C>T) c.9933C>T (p.Phe3311=) c.2400C>T (p.Phe800=) n.2111C>T c.9984C>T (p.Phe3328=) c.9992C>T (n.9992C>T) c.9888C>T (p.Phe3296=) | dbSNP |
13 | g.32398497_32398498delinsCA | CA2082836329 | BRCA2 | c.*507_*508delinsCA (n.*507_*508delinsCA) c.*1351_*1352delinsCA (n.*1351_*1352delinsCA) c.9615_9616delinsCA (p.Phe3205=) c.*1546_*1547delinsCA (n.*1546_*1547delinsCA) c.9933_9934delinsCA (p.Phe3311=) c.2400_2401delinsCA (p.Phe800=) n.2111_2112delinsCA c.9984_9985delinsCA (p.Phe3328=) c.9992_9993delinsCA (n.9992_9993delinsCA) c.9888_9889delinsCA (p.Phe3296=) | |
13 | g.32398498A= | CA2082836345 | BRCA2 | c.*508A= (n.*508A=) c.*1352A= (n.*1352A=) c.9616A= (p.Asn3206=) c.*1547A= (n.*1547A=) c.9934A= (p.Asn3312=) c.2401A= (p.Asn801=) n.2112A= c.9985A= (p.Asn3329=) c.9993A= (n.9993A=) c.9889A= (p.Asn3297=) | |
13 | g.32398498A>C | CA387767571 | BRCA2 | c.*508A>C (n.*508A>C) c.*1352A>C (n.*1352A>C) c.9616A>C (p.Asn3206His) c.*1547A>C (n.*1547A>C) c.9934A>C (p.Asn3312His) c.2401A>C (p.Asn801His) n.2112A>C c.9985A>C (p.Asn3329His) c.9993A>C (n.9993A>C) c.9889A>C (p.Asn3297His) | ClinVar dbSNP |
13 | g.32398498A>G | CA387767572 | BRCA2 | c.*508A>G (n.*508A>G) c.*1352A>G (n.*1352A>G) c.9616A>G (p.Asn3206Asp) c.*1547A>G (n.*1547A>G) c.9934A>G (p.Asn3312Asp) c.2401A>G (p.Asn801Asp) n.2112A>G c.9985A>G (p.Asn3329Asp) c.9993A>G (n.9993A>G) c.9889A>G (p.Asn3297Asp) | |
13 | g.32398498A>T | CA387767573 | BRCA2 | c.*508A>T (n.*508A>T) c.*1352A>T (n.*1352A>T) c.9616A>T (p.Asn3206Tyr) c.*1547A>T (n.*1547A>T) c.9934A>T (p.Asn3312Tyr) c.2401A>T (p.Asn801Tyr) n.2112A>T c.9985A>T (p.Asn3329Tyr) c.9993A>T (n.9993A>T) c.9889A>T (p.Asn3297Tyr) | dbSNP |
13 | g.32398499del | CA16619801 | BRCA2 | c.*509del (n.*509del) c.*1353del (n.*1353del) c.9617del (p.Asn3206MetfsTer11) c.*1548del (n.*1548del) c.9935del (p.Asn3312MetfsTer11) c.2402del (p.Asn801MetfsTer11) n.2113del c.9986del (p.Asn3329MetfsTer11) c.9994del (n.9994del) c.9890del (p.Asn3297MetfsTer11) | ClinVar dbSNP |
13 | g.32398498_32398499insGGCCGGGCGCGGTGGCTCACGCCTGT | CA2622602761 | BRCA2 | c.*508_*509insGGCCGGGCGCGGTGGCTCACGCCTGT (n.*508_*509insGGCCGGGCGCGGTGGCTCACGCCTGT) c.*1352_*1353insGGCCGGGCGCGGTGGCTCACGCCTGT (n.*1352_*1353insGGCCGGGCGCGGTGGCTCACGCCTGT) c.9616_9617insGGCCGGGCGCGGTGGCTCACGCCTGT (p.Asn3206ArgfsTer20) c.*1547_*1548insGGCCGGGCGCGGTGGCTCACGCCTGT (n.*1547_*1548insGGCCGGGCGCGGTGGCTCACGCCTGT) c.9934_9935insGGCCGGGCGCGGTGGCTCACGCCTGT (p.Asn3312ArgfsTer20) c.2401_2402insGGCCGGGCGCGGTGGCTCACGCCTGT (p.Asn801ArgfsTer20) n.2112_2113insGGCCGGGCGCGGTGGCTCACGCCTGT c.9985_9986insGGCCGGGCGCGGTGGCTCACGCCTGT (p.Asn3329ArgfsTer20) c.9993_9994insGGCCGGGCGCGGTGGCTCACGCCTGT (n.9993_9994insGGCCGGGCGCGGTGGCTCACGCCTGT) c.9889_9890insGGCCGGGCGCGGTGGCTCACGCCTGT (p.Asn3297ArgfsTer20) | gnomAD v4 |
13 | g.32398499A= | CA2082836367 | BRCA2 | c.*509A= (n.*509A=) c.*1353A= (n.*1353A=) c.9617A= (p.Asn3206=) c.*1548A= (n.*1548A=) c.9935A= (p.Asn3312=) c.2402A= (p.Asn801=) n.2113A= c.9986A= (p.Asn3329=) c.9994A= (n.9994A=) c.9890A= (p.Asn3297=) | |
13 | g.32398499A>C | CA6941461 | BRCA2 | c.*509A>C (n.*509A>C) c.*1353A>C (n.*1353A>C) c.9617A>C (p.Asn3206Thr) c.*1548A>C (n.*1548A>C) c.9935A>C (p.Asn3312Thr) c.2402A>C (p.Asn801Thr) n.2113A>C c.9986A>C (p.Asn3329Thr) c.9994A>C (n.9994A>C) c.9890A>C (p.Asn3297Thr) | dbSNP ExAC gnomAD v2 |
13 | g.32398499A>G | CA026352 | BRCA2 | c.*509A>G (n.*509A>G) c.*1353A>G (n.*1353A>G) c.9617A>G (p.Asn3206Ser) c.*1548A>G (n.*1548A>G) c.9935A>G (p.Asn3312Ser) c.2402A>G (p.Asn801Ser) n.2113A>G c.9986A>G (p.Asn3329Ser) c.9994A>G (n.9994A>G) c.9890A>G (p.Asn3297Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398499A>T | CA387767584 | BRCA2 | c.*509A>T (n.*509A>T) c.*1353A>T (n.*1353A>T) c.9617A>T (p.Asn3206Ile) c.*1548A>T (n.*1548A>T) c.9935A>T (p.Asn3312Ile) c.2402A>T (p.Asn801Ile) n.2113A>T c.9986A>T (p.Asn3329Ile) c.9994A>T (n.9994A>T) c.9890A>T (p.Asn3297Ile) | dbSNP COSMIC COSMIC |
13 | g.32398500T>A | CA387767586 | BRCA2 | c.*510T>A (n.*510T>A) c.*1354T>A (n.*1354T>A) c.9618T>A (p.Asn3206Lys) c.*1549T>A (n.*1549T>A) c.9936T>A (p.Asn3312Lys) c.2403T>A (p.Asn801Lys) n.2114T>A c.9987T>A (p.Asn3329Lys) c.9995T>A (n.9995T>A) c.9891T>A (p.Asn3297Lys) | dbSNP |
13 | g.32398500T>C | CA483440080 | BRCA2 | c.*510T>C (n.*510T>C) c.*1354T>C (n.*1354T>C) c.9618T>C (p.Asn3206=) c.*1549T>C (n.*1549T>C) c.9936T>C (p.Asn3312=) c.2403T>C (p.Asn801=) n.2114T>C c.9987T>C (p.Asn3329=) c.9995T>C (n.9995T>C) c.9891T>C (p.Asn3297=) | |
13 | g.32398500T>G | CA387767588 | BRCA2 | c.*510T>G (n.*510T>G) c.*1354T>G (n.*1354T>G) c.9618T>G (p.Asn3206Lys) c.*1549T>G (n.*1549T>G) c.9936T>G (p.Asn3312Lys) c.2403T>G (p.Asn801Lys) n.2114T>G c.9987T>G (p.Asn3329Lys) c.9995T>G (n.9995T>G) c.9891T>G (p.Asn3297Lys) | |
13 | g.32398501G>A | CA387767590 | BRCA2 | c.*511G>A (n.*511G>A) c.*1355G>A (n.*1355G>A) c.9619G>A (p.Glu3207Lys) c.*1550G>A (n.*1550G>A) c.9937G>A (p.Glu3313Lys) c.2404G>A (p.Glu802Lys) n.2115G>A c.9988G>A (p.Glu3330Lys) c.9996G>A (n.9996G>A) c.9892G>A (p.Glu3298Lys) | ClinVar dbSNP |
13 | g.32398501G>C | CA387767592 | BRCA2 | c.*511G>C (n.*511G>C) c.*1355G>C (n.*1355G>C) c.9619G>C (p.Glu3207Gln) c.*1550G>C (n.*1550G>C) c.9937G>C (p.Glu3313Gln) c.2404G>C (p.Glu802Gln) n.2115G>C c.9988G>C (p.Glu3330Gln) c.9996G>C (n.9996G>C) c.9892G>C (p.Glu3298Gln) | dbSNP |
13 | g.32398501G>T | CA387767593 | BRCA2 | c.*511G>T (n.*511G>T) c.*1355G>T (n.*1355G>T) c.9619G>T (p.Glu3207Ter) c.*1550G>T (n.*1550G>T) c.9937G>T (p.Glu3313Ter) c.2404G>T (p.Glu802Ter) n.2115G>T c.9988G>T (p.Glu3330Ter) c.9996G>T (n.9996G>T) c.9892G>T (p.Glu3298Ter) | dbSNP |
13 | g.32398502A>C | CA387767598 | BRCA2 | c.*512A>C (n.*512A>C) c.*1356A>C (n.*1356A>C) c.9620A>C (p.Glu3207Ala) c.*1551A>C (n.*1551A>C) c.9938A>C (p.Glu3313Ala) c.2405A>C (p.Glu802Ala) n.2116A>C c.9989A>C (p.Glu3330Ala) c.9997A>C (n.9997A>C) c.9893A>C (p.Glu3298Ala) | |
13 | g.32398502A>G | CA387767595 | BRCA2 | c.*512A>G (n.*512A>G) c.*1356A>G (n.*1356A>G) c.9620A>G (p.Glu3207Gly) c.*1551A>G (n.*1551A>G) c.9938A>G (p.Glu3313Gly) c.2405A>G (p.Glu802Gly) n.2116A>G c.9989A>G (p.Glu3330Gly) c.9997A>G (n.9997A>G) c.9893A>G (p.Glu3298Gly) | |
13 | g.32398502A>T | CA387767594 | BRCA2 | c.*512A>T (n.*512A>T) c.*1356A>T (n.*1356A>T) c.9620A>T (p.Glu3207Val) c.*1551A>T (n.*1551A>T) c.9938A>T (p.Glu3313Val) c.2405A>T (p.Glu802Val) n.2116A>T c.9989A>T (p.Glu3330Val) c.9997A>T (n.9997A>T) c.9893A>T (p.Glu3298Val) | ClinVar dbSNP |
13 | g.32398503A= | CA2082836371 | BRCA2 | c.*513A= (n.*513A=) c.*1357A= (n.*1357A=) c.9621A= (p.Glu3207=) c.*1552A= (n.*1552A=) c.9939A= (p.Glu3313=) c.2406A= (p.Glu802=) n.2117A= c.9990A= (p.Glu3330=) c.9998A= (n.9998A=) c.9894A= (p.Glu3298=) | |
13 | g.32398503A>C | CA16606711 | BRCA2 | c.*513A>C (n.*513A>C) c.*1357A>C (n.*1357A>C) c.9621A>C (p.Glu3207Asp) c.*1552A>C (n.*1552A>C) c.9939A>C (p.Glu3313Asp) c.2406A>C (p.Glu802Asp) n.2117A>C c.9990A>C (p.Glu3330Asp) c.9998A>C (n.9998A>C) c.9894A>C (p.Glu3298Asp) | ClinVar dbSNP gnomAD v4 |
13 | g.32398503A>G | CA483440090 | BRCA2 | c.*513A>G (n.*513A>G) c.*1357A>G (n.*1357A>G) c.9621A>G (p.Glu3207=) c.*1552A>G (n.*1552A>G) c.9939A>G (p.Glu3313=) c.2406A>G (p.Glu802=) n.2117A>G c.9990A>G (p.Glu3330=) c.9998A>G (n.9998A>G) c.9894A>G (p.Glu3298=) | dbSNP gnomAD v4 |
13 | g.32398503A>T | CA387767607 | BRCA2 | c.*513A>T (n.*513A>T) c.*1357A>T (n.*1357A>T) c.9621A>T (p.Glu3207Asp) c.*1552A>T (n.*1552A>T) c.9939A>T (p.Glu3313Asp) c.2406A>T (p.Glu802Asp) n.2117A>T c.9990A>T (p.Glu3330Asp) c.9998A>T (n.9998A>T) c.9894A>T (p.Glu3298Asp) | ClinVar dbSNP |
13 | g.32398503_32398505del | CA2695217836 | BRCA2 | c.*513_*515del (n.*513_*515del) c.*1357_*1359del (n.*1357_*1359del) c.9621_9623del (p.Glu3207_Ile3208delinsAsp) c.*1552_*1554del (n.*1552_*1554del) c.9939_9941del (p.Glu3313_Ile3314delinsAsp) c.2406_2408del (p.Glu802_Ile803delinsAsp) n.2117_2119del c.9990_9992del (p.Glu3330_Ile3331delinsAsp) c.9998_10000del (n.9998_10000del) c.9894_9896del (p.Glu3298_Ile3299delinsAsp) | |
13 | g.32398504A>C | CA387767609 | BRCA2 | c.*514A>C (n.*514A>C) c.*1358A>C (n.*1358A>C) c.9622A>C (p.Ile3208Leu) c.*1553A>C (n.*1553A>C) c.9940A>C (p.Ile3314Leu) c.2407A>C (p.Ile803Leu) n.2118A>C c.9991A>C (p.Ile3331Leu) c.9999A>C (n.9999A>C) c.9895A>C (p.Ile3299Leu) | |
13 | g.32398504A>G | CA387767611 | BRCA2 | c.*514A>G (n.*514A>G) c.*1358A>G (n.*1358A>G) c.9622A>G (p.Ile3208Val) c.*1553A>G (n.*1553A>G) c.9940A>G (p.Ile3314Val) c.2407A>G (p.Ile803Val) n.2118A>G c.9991A>G (p.Ile3331Val) c.9999A>G (n.9999A>G) c.9895A>G (p.Ile3299Val) | |
13 | g.32398504A>T | CA387767614 | BRCA2 | c.*514A>T (n.*514A>T) c.*1358A>T (n.*1358A>T) c.9622A>T (p.Ile3208Phe) c.*1553A>T (n.*1553A>T) c.9940A>T (p.Ile3314Phe) c.2407A>T (p.Ile803Phe) n.2118A>T c.9991A>T (p.Ile3331Phe) c.9999A>T (n.9999A>T) c.9895A>T (p.Ile3299Phe) | |
13 | g.32398505T>A | CA387767615 | BRCA2 | c.*515T>A (n.*515T>A) c.*1359T>A (n.*1359T>A) c.9623T>A (p.Ile3208Asn) c.*1554T>A (n.*1554T>A) c.9941T>A (p.Ile3314Asn) c.2408T>A (p.Ile803Asn) n.2119T>A c.9992T>A (p.Ile3331Asn) c.10000T>A (n.10000T>A) c.9896T>A (p.Ile3299Asn) | dbSNP |
13 | g.32398505T>C | CA387767616 | BRCA2 | c.*515T>C (n.*515T>C) c.*1359T>C (n.*1359T>C) c.9623T>C (p.Ile3208Thr) c.*1554T>C (n.*1554T>C) c.9941T>C (p.Ile3314Thr) c.2408T>C (p.Ile803Thr) n.2119T>C c.9992T>C (p.Ile3331Thr) c.10000T>C (n.10000T>C) c.9896T>C (p.Ile3299Thr) | dbSNP COSMIC COSMIC |
13 | g.32398505T>G | CA387767617 | BRCA2 | c.*515T>G (n.*515T>G) c.*1359T>G (n.*1359T>G) c.9623T>G (p.Ile3208Ser) c.*1554T>G (n.*1554T>G) c.9941T>G (p.Ile3314Ser) c.2408T>G (p.Ile803Ser) n.2119T>G c.9992T>G (p.Ile3331Ser) c.10000T>G (n.10000T>G) c.9896T>G (p.Ile3299Ser) | |
13 | g.32398506T>A | CA16607503 | BRCA2 | c.*516T>A (n.*516T>A) c.*1360T>A (n.*1360T>A) c.9624T>A (p.Ile3208=) c.*1555T>A (n.*1555T>A) c.9942T>A (p.Ile3314=) c.2409T>A (p.Ile803=) n.2120T>A c.9993T>A (p.Ile3331=) c.10001T>A (n.10001T>A) c.9897T>A (p.Ile3299=) | ClinVar dbSNP |
13 | g.32398506T>C | CA483440097 | BRCA2 | c.*516T>C (n.*516T>C) c.*1360T>C (n.*1360T>C) c.9624T>C (p.Ile3208=) c.*1555T>C (n.*1555T>C) c.9942T>C (p.Ile3314=) c.2409T>C (p.Ile803=) n.2120T>C c.9993T>C (p.Ile3331=) c.10001T>C (n.10001T>C) c.9897T>C (p.Ile3299=) | |
13 | g.32398506T>G | CA387767619 | BRCA2 | c.*516T>G (n.*516T>G) c.*1360T>G (n.*1360T>G) c.9624T>G (p.Ile3208Met) c.*1555T>G (n.*1555T>G) c.9942T>G (p.Ile3314Met) c.2409T>G (p.Ile803Met) n.2120T>G c.9993T>G (p.Ile3331Met) c.10001T>G (n.10001T>G) c.9897T>G (p.Ile3299Met) | |
13 | g.32398506T= | CA2082836382 | BRCA2 | c.*516T= (n.*516T=) c.*1360T= (n.*1360T=) c.9624T= (p.Ile3208=) c.*1555T= (n.*1555T=) c.9942T= (p.Ile3314=) c.2409T= (p.Ile803=) n.2120T= c.9993T= (p.Ile3331=) c.10001T= (n.10001T=) c.9897T= (p.Ile3299=) | |
13 | g.32398506_32398508delinsTTC | CA2082836383 | BRCA2 | c.*516_*518delinsTTC (n.*516_*518delinsTTC) c.*1360_*1362delinsTTC (n.*1360_*1362delinsTTC) c.9624_9626delinsTTC (p.Ile3208=) c.*1555_*1557delinsTTC (n.*1555_*1557delinsTTC) c.9942_9944delinsTTC (p.Ile3314=) c.2409_2411delinsTTC (p.Ile803=) n.2120_2122delinsTTC c.9993_9995delinsTTC (p.Ile3331=) c.10001_10003delinsTTC (n.10001_10003delinsTTC) c.9897_9899delinsTTC (p.Ile3299=) | |
13 | g.32398507T>A | CA387767623 | BRCA2 | c.*517T>A (n.*517T>A) c.*1361T>A (n.*1361T>A) c.9625T>A (p.Ser3209Thr) c.*1556T>A (n.*1556T>A) c.9943T>A (p.Ser3315Thr) c.2410T>A (p.Ser804Thr) n.2121T>A c.9994T>A (p.Ser3332Thr) c.10002T>A (n.10002T>A) c.9898T>A (p.Ser3300Thr) | dbSNP |
13 | g.32398507T>C | CA387767625 | BRCA2 | c.*517T>C (n.*517T>C) c.*1361T>C (n.*1361T>C) c.9625T>C (p.Ser3209Pro) c.*1556T>C (n.*1556T>C) c.9943T>C (p.Ser3315Pro) c.2410T>C (p.Ser804Pro) n.2121T>C c.9994T>C (p.Ser3332Pro) c.10002T>C (n.10002T>C) c.9898T>C (p.Ser3300Pro) | |
13 | g.32398507T>G | CA387767628 | BRCA2 | c.*517T>G (n.*517T>G) c.*1361T>G (n.*1361T>G) c.9625T>G (p.Ser3209Ala) c.*1556T>G (n.*1556T>G) c.9943T>G (p.Ser3315Ala) c.2410T>G (p.Ser804Ala) n.2121T>G c.9994T>G (p.Ser3332Ala) c.10002T>G (n.10002T>G) c.9898T>G (p.Ser3300Ala) | ClinVar |
13 | g.32398510_32398511del | CA026354 | BRCA2 | c.*520_*521del (n.*520_*521del) c.*1364_*1365del (n.*1364_*1365del) c.9628_9629del (p.Leu3210PhefsTer4) c.*1559_*1560del (n.*1559_*1560del) c.9946_9947del (p.Leu3316PhefsTer4) c.2413_2414del (p.Leu805PhefsTer4) n.2124_2125del c.9997_9998del (p.Leu3333PhefsTer4) c.10005_10006del (n.10005_10006del) c.9901_9902del (p.Leu3301PhefsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398508C>A | CA10579852 | BRCA2 | c.*518C>A (n.*518C>A) c.*1362C>A (n.*1362C>A) c.9626C>A (p.Ser3209Tyr) c.*1557C>A (n.*1557C>A) c.9944C>A (p.Ser3315Tyr) c.2411C>A (p.Ser804Tyr) n.2122C>A c.9995C>A (p.Ser3332Tyr) c.10003C>A (n.10003C>A) c.9899C>A (p.Ser3300Tyr) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32398508C= | CA2082836404 | BRCA2 | c.*518C= (n.*518C=) c.*1362C= (n.*1362C=) c.9626C= (p.Ser3209=) c.*1557C= (n.*1557C=) c.9944C= (p.Ser3315=) c.2411C= (p.Ser804=) n.2122C= c.9995C= (p.Ser3332=) c.10003C= (n.10003C=) c.9899C= (p.Ser3300=) | |
13 | g.32398508C>G | CA16607505 | BRCA2 | c.*518C>G (n.*518C>G) c.*1362C>G (n.*1362C>G) c.9626C>G (p.Ser3209Cys) c.*1557C>G (n.*1557C>G) c.9944C>G (p.Ser3315Cys) c.2411C>G (p.Ser804Cys) n.2122C>G c.9995C>G (p.Ser3332Cys) c.10003C>G (n.10003C>G) c.9899C>G (p.Ser3300Cys) | ClinVar dbSNP gnomAD v4 |
13 | g.32398508C>T | CA387767642 | BRCA2 | c.*518C>T (n.*518C>T) c.*1362C>T (n.*1362C>T) c.9626C>T (p.Ser3209Phe) c.*1557C>T (n.*1557C>T) c.9944C>T (p.Ser3315Phe) c.2411C>T (p.Ser804Phe) n.2122C>T c.9995C>T (p.Ser3332Phe) c.10003C>T (n.10003C>T) c.9899C>T (p.Ser3300Phe) | dbSNP |
13 | g.32398508_32398517delinsCTCTTTTGGA | CA2082836403 | BRCA2 | c.*518_*527delinsCTCTTTTGGA (n.*518_*527delinsCTCTTTTGGA) c.*1362_*1371delinsCTCTTTTGGA (n.*1362_*1371delinsCTCTTTTGGA) c.9626_9635delinsCTCTTTTGGA (p.Ser3209=) c.*1557_*1566delinsCTCTTTTGGA (n.*1557_*1566delinsCTCTTTTGGA) c.9944_9953delinsCTCTTTTGGA (p.Ser3315=) c.2411_2420delinsCTCTTTTGGA (p.Ser804=) n.2122_2131delinsCTCTTTTGGA c.9995_10004delinsCTCTTTTGGA (p.Ser3332=) c.10003_10012delinsCTCTTTTGGA (n.10003_10012delinsCTCTTTTGGA) c.9899_9908delinsCTCTTTTGGA (p.Ser3300=) | |
13 | g.32398509T>A | CA483440107 | BRCA2 | c.*519T>A (n.*519T>A) c.*1363T>A (n.*1363T>A) c.9627T>A (p.Ser3209=) c.*1558T>A (n.*1558T>A) c.9945T>A (p.Ser3315=) c.2412T>A (p.Ser804=) n.2123T>A c.9996T>A (p.Ser3332=) c.10004T>A (n.10004T>A) c.9900T>A (p.Ser3300=) | dbSNP |
13 | g.32398509T>C | CA483440113 | BRCA2 | c.*519T>C (n.*519T>C) c.*1363T>C (n.*1363T>C) c.9627T>C (p.Ser3209=) c.*1558T>C (n.*1558T>C) c.9945T>C (p.Ser3315=) c.2412T>C (p.Ser804=) n.2123T>C c.9996T>C (p.Ser3332=) c.10004T>C (n.10004T>C) c.9900T>C (p.Ser3300=) | ClinVar dbSNP |
13 | g.32398509T>G | CA483440114 | BRCA2 | c.*519T>G (n.*519T>G) c.*1363T>G (n.*1363T>G) c.9627T>G (p.Ser3209=) c.*1558T>G (n.*1558T>G) c.9945T>G (p.Ser3315=) c.2412T>G (p.Ser804=) n.2123T>G c.9996T>G (p.Ser3332=) c.10004T>G (n.10004T>G) c.9900T>G (p.Ser3300=) | |
13 | g.32398509_32398517delinsCCTTTGGG | CA913190452 | BRCA2 | c.*519_*527delinsCCTTTGGG (n.*519_*527delinsCCTTTGGG) c.*1363_*1371delinsCCTTTGGG (n.*1363_*1371delinsCCTTTGGG) c.9627_9635delinsCCTTTGGG (p.Leu3211TrpfsTer6) c.*1558_*1566delinsCCTTTGGG (n.*1558_*1566delinsCCTTTGGG) c.9945_9953delinsCCTTTGGG (p.Leu3317TrpfsTer6) c.2412_2420delinsCCTTTGGG (p.Leu806TrpfsTer6) n.2123_2131delinsCCTTTGGG c.9996_10004delinsCCTTTGGG (p.Leu3334TrpfsTer6) c.10004_10012delinsCCTTTGGG (n.10004_10012delinsCCTTTGGG) c.9900_9908delinsCCTTTGGG (p.Leu3302TrpfsTer6) | ClinVar dbSNP |