Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340398_32341353del | CA2582073544 | BRCA2 | c.6043_6841+157del c.5674_6472+157del n.6043_6841+157del | |
13 | g.32340998_32341002delinsTACTC | CA2082816651 | BRCA2 | c.6643_6647delinsTACTC (p.Tyr2215=) c.6274_6278delinsTACTC (p.Tyr2092=) n.6643_6647delinsTACTC | |
13 | g.32340998_32341003delinsTACTCC | CA2082816652 | BRCA2 | c.6643_6648delinsTACTCC (p.Tyr2215=) c.6274_6279delinsTACTCC (p.Tyr2092=) n.6643_6648delinsTACTCC | |
13 | g.32340999_32341000delinsAC | CA2082816667 | BRCA2 | c.6644_6645delinsAC (p.Tyr2215=) c.6275_6276delinsAC (p.Tyr2092=) n.6644_6645delinsAC | |
13 | g.32340999_32341002del | CA024249 | BRCA2 | c.6644_6647del (p.Tyr2215SerfsTer13) c.6275_6278del (p.Tyr2092SerfsTer13) n.6644_6647del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340999_32341003delinsACTCC | CA2082816669 | BRCA2 | c.6644_6648delinsACTCC (p.Tyr2215=) c.6275_6279delinsACTCC (p.Tyr2092=) n.6644_6648delinsACTCC | |
13 | g.32341000_32341004del | CA024252 | BRCA2 | c.6645_6649del (p.Tyr2215Ter) c.6276_6280del (p.Tyr2092Ter) n.6645_6649del | ClinVar dbSNP |
13 | g.32341000del | CA658761144 | BRCA2 | c.6645del (p.Ser2216ProfsTer13) c.6276del (p.Ser2093ProfsTer13) n.6645del | ClinVar dbSNP |
13 | g.32341000C>A | CA387790368 | BRCA2 | c.6645C>A (p.Tyr2215Ter) c.6276C>A (p.Tyr2092Ter) n.6645C>A | ClinVar dbSNP |
13 | g.32341000C= | CA2082816693 | BRCA2 | c.6645C= (p.Tyr2215=) c.6276C= (p.Tyr2092=) n.6645C= | |
13 | g.32341000C>G | CA024254 | BRCA2 | c.6645C>G (p.Tyr2215Ter) c.6276C>G (p.Tyr2092Ter) n.6645C>G | ClinVar dbSNP |
13 | g.32341000C>T | CA483439355 | BRCA2 | c.6645C>T (p.Tyr2215=) c.6276C>T (p.Tyr2092=) n.6645C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32341000_32341003del | CA10589397 | BRCA2 | c.6645_6648del (p.Tyr2215Ter) c.6276_6279del (p.Tyr2092Ter) n.6645_6648del | ClinVar dbSNP |
13 | g.32341001T>A | CA387790371 | BRCA2 | c.6646T>A (p.Ser2216Thr) c.6277T>A (p.Ser2093Thr) n.6646T>A | |
13 | g.32341001T>C | CA387790374 | BRCA2 | c.6646T>C (p.Ser2216Pro) c.6277T>C (p.Ser2093Pro) n.6646T>C | |
13 | g.32341001T>G | CA247514266 | BRCA2 | c.6646T>G (p.Ser2216Ala) c.6277T>G (p.Ser2093Ala) n.6646T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32341001T= | CA2082816705 | BRCA2 | c.6646T= (p.Ser2216=) c.6277T= (p.Ser2093=) n.6646T= | |
13 | g.32341002C>A | CA387790378 | BRCA2 | c.6647C>A (p.Ser2216Tyr) c.6278C>A (p.Ser2093Tyr) n.6647C>A | dbSNP |
13 | g.32341002C= | CA2082816709 | BRCA2 | c.6647C= (p.Ser2216=) c.6278C= (p.Ser2093=) n.6647C= | |
13 | g.32341002C>G | CA387790379 | BRCA2 | c.6647C>G (p.Ser2216Cys) c.6278C>G (p.Ser2093Cys) n.6647C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32341002C>T | CA387790382 | BRCA2 | c.6647C>T (p.Ser2216Phe) c.6278C>T (p.Ser2093Phe) n.6647C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32341003C>A | CA483439357 | BRCA2 | c.6648C>A (p.Ser2216=) c.6279C>A (p.Ser2093=) n.6648C>A | |
13 | g.32341003C>G | CA483439361 | BRCA2 | c.6648C>G (p.Ser2216=) c.6279C>G (p.Ser2093=) n.6648C>G | |
13 | g.32341003C>T | CA483439359 | BRCA2 | c.6648C>T (p.Ser2216=) c.6279C>T (p.Ser2093=) n.6648C>T | |
13 | g.32341003_32341004dup | CA2573149195 | BRCA2 | c.6648_6649dup (p.Lys2217ThrfsTer13) c.6279_6280dup (p.Lys2094ThrfsTer13) n.6648_6649dup | ClinVar dbSNP |
13 | g.32341004A= | CA2082816725 | BRCA2 | c.6649A= (p.Lys2217=) c.6280A= (p.Lys2094=) n.6649A= | |
13 | g.32341004A>C | CA387790383 | BRCA2 | c.6649A>C (p.Lys2217Gln) c.6280A>C (p.Lys2094Gln) n.6649A>C | |
13 | g.32341004A>G | CA387790385 | BRCA2 | c.6649A>G (p.Lys2217Glu) c.6280A>G (p.Lys2094Glu) n.6649A>G | ClinVar dbSNP |
13 | g.32341004A>T | CA387790387 | BRCA2 | c.6649A>T (p.Lys2217Ter) c.6280A>T (p.Lys2094Ter) n.6649A>T | ClinVar dbSNP |
13 | g.32341004_32341009delinsAAAGAT | CA2082816724 | BRCA2 | c.6649_6654delinsAAAGAT (p.Lys2217=) c.6280_6285delinsAAAGAT (p.Lys2094=) n.6649_6654delinsAAAGAT | |
13 | g.32341005A= | CA2082816742 | BRCA2 | c.6650A= (p.Lys2217=) c.6281A= (p.Lys2094=) n.6650A= | |
13 | g.32341005A>C | CA387790392 | BRCA2 | c.6650A>C (p.Lys2217Thr) c.6281A>C (p.Lys2094Thr) n.6650A>C | |
13 | g.32341005A>G | CA387790393 | BRCA2 | c.6650A>G (p.Lys2217Arg) c.6281A>G (p.Lys2094Arg) n.6650A>G | ClinVar dbSNP |
13 | g.32341005A>T | CA387790397 | BRCA2 | c.6650A>T (p.Lys2217Ile) c.6281A>T (p.Lys2094Ile) n.6650A>T | |
13 | g.32341005_32341009del | CA645294074 | BRCA2 | c.6650_6654del (p.Lys2217IlefsTer6) c.6281_6285del (p.Lys2094IlefsTer6) n.6650_6654del | ClinVar dbSNP |
13 | g.32341006A= | CA2082816754 | BRCA2 | c.6651A= (p.Lys2217=) c.6282A= (p.Lys2094=) n.6651A= | |
13 | g.32341006A>C | CA387790398 | BRCA2 | c.6651A>C (p.Lys2217Asn) c.6282A>C (p.Lys2094Asn) n.6651A>C | |
13 | g.32341006A>G | CA483439362 | BRCA2 | c.6651A>G (p.Lys2217=) c.6282A>G (p.Lys2094=) n.6651A>G | |
13 | g.32341006A>T | CA387790399 | BRCA2 | c.6651A>T (p.Lys2217Asn) c.6282A>T (p.Lys2094Asn) n.6651A>T | |
13 | g.32341006_32341007delinsAG | CA2082816751 | BRCA2 | c.6651_6652delinsAG (p.Lys2217=) c.6282_6283delinsAG (p.Lys2094=) n.6651_6652delinsAG | |
13 | g.32341009_32341032del | CA2697551748 | BRCA2 | c.6654_6677del (p.Asp2218_Thr2225del) c.6285_6308del (p.Asp2095_Thr2102del) n.6654_6677del | ClinVar |
13 | g.32341007del | CA645294075 | BRCA2 | c.6652del (p.Asp2218IlefsTer11) c.6283del (p.Asp2095IlefsTer11) n.6652del | ClinVar dbSNP |
13 | g.32341007G>A | CA387790405 | BRCA2 | c.6652G>A (p.Asp2218Asn) c.6283G>A (p.Asp2095Asn) n.6652G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32341007G>C | CA024261 | BRCA2 | c.6652G>C (p.Asp2218His) c.6283G>C (p.Asp2095His) n.6652G>C | ClinVar dbSNP gnomAD v4 |
13 | g.32341007G= | CA2082816769 | BRCA2 | c.6652G= (p.Asp2218=) c.6283G= (p.Asp2095=) n.6652G= | |
13 | g.32341007G>T | CA387790401 | BRCA2 | c.6652G>T (p.Asp2218Tyr) c.6283G>T (p.Asp2095Tyr) n.6652G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32341007dup | CA024258 | BRCA2 | c.6652dup (p.Asp2218GlyfsTer7) c.6283dup (p.Asp2095GlyfsTer7) n.6652dup | ClinVar dbSNP |
13 | g.32341008A= | CA2082816776 | BRCA2 | c.6653A= (p.Asp2218=) c.6284A= (p.Asp2095=) n.6653A= | |
13 | g.32341008A>C | CA387790407 | BRCA2 | c.6653A>C (p.Asp2218Ala) c.6284A>C (p.Asp2095Ala) n.6653A>C | dbSNP |
13 | g.32341008A>G | CA387790409 | BRCA2 | c.6653A>G (p.Asp2218Gly) c.6284A>G (p.Asp2095Gly) n.6653A>G |