| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32354860_32355660del | CA2499222270 | BRCA2 | c.7008-1_7435+372del c.6639-1_7066+372del n.7008-1_7435+372del c.6912-1_7339+372del | ClinVar dbSNP |
| 13 | g.32355003_32355004delinsCA | CA2082809283 | BRCA2 | c.7150_7151delinsCA (p.Gln2384=) c.6781_6782delinsCA (p.Gln2261=) n.7150_7151delinsCA c.7054_7055delinsCA (p.Gln2352=) | |
| 13 | g.32355003_32355005delinsCAA | CA2082809282 | BRCA2 | c.7150_7152delinsCAA (p.Gln2384=) c.6781_6783delinsCAA (p.Gln2261=) n.7150_7152delinsCAA c.7054_7056delinsCAA (p.Gln2352=) | |
| 13 | g.32355004A>C | CA387739188 | BRCA2 | c.7151A>C (p.Gln2384Pro) c.6782A>C (p.Gln2261Pro) n.7151A>C c.7055A>C (p.Gln2352Pro) | |
| 13 | g.32355004A>G | CA387739186 | BRCA2 | c.7151A>G (p.Gln2384Arg) c.6782A>G (p.Gln2261Arg) n.7151A>G c.7055A>G (p.Gln2352Arg) | dbSNP |
| 13 | g.32355004A>T | CA387739182 | BRCA2 | c.7151A>T (p.Gln2384Leu) c.6782A>T (p.Gln2261Leu) n.7151A>T c.7055A>T (p.Gln2352Leu) | |
| 13 | g.32355004_32355005del | CA024907 | BRCA2 | c.7151_7152del (p.Gln2384ArgfsTer7) c.6782_6783del (p.Gln2261ArgfsTer7) n.7151_7152del c.7055_7056del (p.Gln2352ArgfsTer7) | ClinVar dbSNP |
| 13 | g.32355005del | CA10589414 | BRCA2 | c.7152del (p.Val2385PhefsTer9) c.6783del (p.Val2262PhefsTer9) n.7152del c.7056del (p.Val2353PhefsTer9) | ClinVar dbSNP |
| 13 | g.32355005A= | CA2082809299 | BRCA2 | c.7152A= (p.Gln2384=) c.6783A= (p.Gln2261=) n.7152A= c.7056A= (p.Gln2352=) | |
| 13 | g.32355005A>C | CA387739199 | BRCA2 | c.7152A>C (p.Gln2384His) c.6783A>C (p.Gln2261His) n.7152A>C c.7056A>C (p.Gln2352His) | |
| 13 | g.32355005A>G | CA024909 | BRCA2 | c.7152A>G (p.Gln2384=) c.6783A>G (p.Gln2261=) n.7152A>G c.7056A>G (p.Gln2352=) | ClinVar dbSNP |
| 13 | g.32355005A>T | CA387739221 | BRCA2 | c.7152A>T (p.Gln2384His) c.6783A>T (p.Gln2261His) n.7152A>T c.7056A>T (p.Gln2352His) | dbSNP |
| 13 | g.32355006G>A | CA387739249 | BRCA2 | c.7153G>A (p.Val2385Ile) c.6784G>A (p.Val2262Ile) n.7153G>A c.7057G>A (p.Val2353Ile) | ClinVar dbSNP |
| 13 | g.32355006G>C | CA387739255 | BRCA2 | c.7153G>C (p.Val2385Leu) c.6784G>C (p.Val2262Leu) n.7153G>C c.7057G>C (p.Val2353Leu) | dbSNP |
| 13 | g.32355006G= | CA2082809304 | BRCA2 | c.7153G= (p.Val2385=) c.6784G= (p.Val2262=) n.7153G= c.7057G= (p.Val2353=) | |
| 13 | g.32355006G>T | CA387739258 | BRCA2 | c.7153G>T (p.Val2385Phe) c.6784G>T (p.Val2262Phe) n.7153G>T c.7057G>T (p.Val2353Phe) | |
| 13 | g.32355007T>A | CA387739263 | BRCA2 | c.7154T>A (p.Val2385Asp) c.6785T>A (p.Val2262Asp) n.7154T>A c.7058T>A (p.Val2353Asp) | dbSNP |
| 13 | g.32355007T>C | CA387739276 | BRCA2 | c.7154T>C (p.Val2385Ala) c.6785T>C (p.Val2262Ala) n.7154T>C c.7058T>C (p.Val2353Ala) | ClinVar dbSNP |
| 13 | g.32355007T>G | CA387739266 | BRCA2 | c.7154T>G (p.Val2385Gly) c.6785T>G (p.Val2262Gly) n.7154T>G c.7058T>G (p.Val2353Gly) | ClinVar dbSNP |
| 13 | g.32355007T= | CA2082809311 | BRCA2 | c.7154T= (p.Val2385=) c.6785T= (p.Val2262=) n.7154T= c.7058T= (p.Val2353=) | |
| 13 | g.32355009dup | CA024911 | BRCA2 | c.7156dup (p.Ser2386PhefsTer6) c.6787dup (p.Ser2263PhefsTer6) n.7156dup c.7060dup (p.Ser2354PhefsTer6) | ClinVar dbSNP |
| 13 | g.32355008T>A | CA483439480 | BRCA2 | c.7155T>A (p.Val2385=) c.6786T>A (p.Val2262=) n.7155T>A c.7059T>A (p.Val2353=) | dbSNP |
| 13 | g.32355008T>C | CA483439481 | BRCA2 | c.7155T>C (p.Val2385=) c.6786T>C (p.Val2262=) n.7155T>C c.7059T>C (p.Val2353=) | dbSNP |
| 13 | g.32355008T>G | CA483439483 | BRCA2 | c.7155T>G (p.Val2385=) c.6786T>G (p.Val2262=) n.7155T>G c.7059T>G (p.Val2353=) | |
| 13 | g.32355008_32355015dup | CA2499222273 | BRCA2 | c.7155_7162dup (p.Thr2388IlefsTer9) c.6786_6793dup (p.Thr2265IlefsTer9) n.7155_7162dup c.7059_7066dup (p.Thr2356IlefsTer9) | ClinVar dbSNP |
| 13 | g.32355009T>A | CA387739283 | BRCA2 | c.7156T>A (p.Ser2386Thr) c.6787T>A (p.Ser2263Thr) n.7156T>A c.7060T>A (p.Ser2354Thr) | dbSNP |
| 13 | g.32355009T>C | CA6941065 | BRCA2 | c.7156T>C (p.Ser2386Pro) c.6787T>C (p.Ser2263Pro) n.7156T>C c.7060T>C (p.Ser2354Pro) | dbSNP ExAC gnomAD v2 |
| 13 | g.32355009T>G | CA387739290 | BRCA2 | c.7156T>G (p.Ser2386Ala) c.6787T>G (p.Ser2263Ala) n.7156T>G c.7060T>G (p.Ser2354Ala) | dbSNP |
| 13 | g.32355009T= | CA2082809321 | BRCA2 | c.7156T= (p.Ser2386=) c.6787T= (p.Ser2263=) n.7156T= c.7060T= (p.Ser2354=) | |
| 13 | g.32355010C>A | CA387739291 | BRCA2 | c.7157C>A (p.Ser2386Tyr) c.6788C>A (p.Ser2263Tyr) n.7157C>A c.7061C>A (p.Ser2354Tyr) | dbSNP gnomAD v4 |
| 13 | g.32355010C= | CA2082809326 | BRCA2 | c.7157C= (p.Ser2386=) c.6788C= (p.Ser2263=) n.7157C= c.7061C= (p.Ser2354=) | |
| 13 | g.32355010C>G | CA387739292 | BRCA2 | c.7157C>G (p.Ser2386Cys) c.6788C>G (p.Ser2263Cys) n.7157C>G c.7061C>G (p.Ser2354Cys) | dbSNP |
| 13 | g.32355010C>T | CA387739293 | BRCA2 | c.7157C>T (p.Ser2386Phe) c.6788C>T (p.Ser2263Phe) n.7157C>T c.7061C>T (p.Ser2354Phe) | dbSNP |
| 13 | g.32355011T>A | CA483439613 | BRCA2 | c.7158T>A (p.Ser2386=) c.6789T>A (p.Ser2263=) n.7158T>A c.7062T>A (p.Ser2354=) | dbSNP |
| 13 | g.32355011T>C | CA247468407 | BRCA2 | c.7158T>C (p.Ser2386=) c.6789T>C (p.Ser2263=) n.7158T>C c.7062T>C (p.Ser2354=) | dbSNP |
| 13 | g.32355011T>G | CA483439618 | BRCA2 | c.7158T>G (p.Ser2386=) c.6789T>G (p.Ser2263=) n.7158T>G c.7062T>G (p.Ser2354=) | |
| 13 | g.32355011T= | CA2082809330 | BRCA2 | c.7158T= (p.Ser2386=) c.6789T= (p.Ser2263=) n.7158T= c.7062T= (p.Ser2354=) | |
| 13 | g.32355012G>A | CA387739300 | BRCA2 | c.7159G>A (p.Ala2387Thr) c.6790G>A (p.Ala2264Thr) n.7159G>A c.7063G>A (p.Ala2355Thr) | ClinVar dbSNP |
| 13 | g.32355012G>C | CA387739295 | BRCA2 | c.7159G>C (p.Ala2387Pro) c.6790G>C (p.Ala2264Pro) n.7159G>C c.7063G>C (p.Ala2355Pro) | dbSNP |
| 13 | g.32355012G= | CA2082809336 | BRCA2 | c.7159G= (p.Ala2387=) c.6790G= (p.Ala2264=) n.7159G= c.7063G= (p.Ala2355=) | |
| 13 | g.32355012G>T | CA387739296 | BRCA2 | c.7159G>T (p.Ala2387Ser) c.6790G>T (p.Ala2264Ser) n.7159G>T c.7063G>T (p.Ala2355Ser) | dbSNP |
| 13 | g.32355013C>A | CA387739307 | BRCA2 | c.7160C>A (p.Ala2387Asp) c.6791C>A (p.Ala2264Asp) n.7160C>A c.7064C>A (p.Ala2355Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355013C= | CA2082809344 | BRCA2 | c.7160C= (p.Ala2387=) c.6791C= (p.Ala2264=) n.7160C= c.7064C= (p.Ala2355=) | |
| 13 | g.32355013C>G | CA387739314 | BRCA2 | c.7160C>G (p.Ala2387Gly) c.6791C>G (p.Ala2264Gly) n.7160C>G c.7064C>G (p.Ala2355Gly) | dbSNP |
| 13 | g.32355013C>T | CA024915 | BRCA2 | c.7160C>T (p.Ala2387Val) c.6791C>T (p.Ala2264Val) n.7160C>T c.7064C>T (p.Ala2355Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355014T>A | CA483439626 | BRCA2 | c.7161T>A (p.Ala2387=) c.6792T>A (p.Ala2264=) n.7161T>A c.7065T>A (p.Ala2355=) | dbSNP |
| 13 | g.32355014T>C | CA483439622 | BRCA2 | c.7161T>C (p.Ala2387=) c.6792T>C (p.Ala2264=) n.7161T>C c.7065T>C (p.Ala2355=) | dbSNP gnomAD v4 |
| 13 | g.32355014T>G | CA483439621 | BRCA2 | c.7161T>G (p.Ala2387=) c.6792T>G (p.Ala2264=) n.7161T>G c.7065T>G (p.Ala2355=) | |
| 13 | g.32355015A= | CA2082809350 | BRCA2 | c.7162A= (p.Thr2388=) c.6793A= (p.Thr2265=) n.7162A= c.7066A= (p.Thr2356=) | |
| 13 | g.32355015A>C | CA387739345 | BRCA2 | c.7162A>C (p.Thr2388Pro) c.6793A>C (p.Thr2265Pro) n.7162A>C c.7066A>C (p.Thr2356Pro) | dbSNP |