Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32338121_32338122delinsCA | CA2082820514 | BRCA2 | c.3766_3767delinsCA (p.His1256=) c.3397_3398delinsCA (p.His1133=) n.3766_3767delinsCA | |
13 | g.32338122del | CA658823692 | BRCA2 | c.3767del (p.His1256LeufsTer3) c.3398del (p.His1133LeufsTer3) n.3767del | ClinVar dbSNP |
13 | g.32338122A= | CA2082820523 | BRCA2 | c.3767A= (p.His1256=) c.3398A= (p.His1133=) n.3767A= | |
13 | g.32338122A>C | CA018748 | BRCA2 | c.3767A>C (p.His1256Pro) c.3398A>C (p.His1133Pro) n.3767A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338122A>G | CA018755 | BRCA2 | c.3767A>G (p.His1256Arg) c.3398A>G (p.His1133Arg) n.3767A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338122A>T | CA387778245 | BRCA2 | c.3767A>T (p.His1256Leu) c.3398A>T (p.His1133Leu) n.3767A>T | |
13 | g.32338123T>A | CA387778247 | BRCA2 | c.3768T>A (p.His1256Gln) c.3399T>A (p.His1133Gln) n.3768T>A | ClinVar dbSNP |
13 | g.32338123T>C | CA483437904 | BRCA2 | c.3768T>C (p.His1256=) c.3399T>C (p.His1133=) n.3768T>C | dbSNP |
13 | g.32338123T>G | CA387778250 | BRCA2 | c.3768T>G (p.His1256Gln) c.3399T>G (p.His1133Gln) n.3768T>G | gnomAD v4 |
13 | g.32338123T= | CA2082820530 | BRCA2 | c.3768T= (p.His1256=) c.3399T= (p.His1133=) n.3768T= | |
13 | g.32338124C>A | CA16614137 | BRCA2 | c.3769C>A (p.Pro1257Thr) c.3400C>A (p.Pro1134Thr) n.3769C>A | ClinVar dbSNP |
13 | g.32338124C= | CA2082820546 | BRCA2 | c.3769C= (p.Pro1257=) c.3400C= (p.Pro1134=) n.3769C= | |
13 | g.32338124C>G | CA387778253 | BRCA2 | c.3769C>G (p.Pro1257Ala) c.3400C>G (p.Pro1134Ala) n.3769C>G | ClinVar dbSNP |
13 | g.32338124C>T | CA387778254 | BRCA2 | c.3769C>T (p.Pro1257Ser) c.3400C>T (p.Pro1134Ser) n.3769C>T | ClinVar dbSNP COSMIC COSMIC |
13 | g.32338125C>A | CA387778259 | BRCA2 | c.3770C>A (p.Pro1257Gln) c.3401C>A (p.Pro1134Gln) n.3770C>A | dbSNP gnomAD v4 |
13 | g.32338125C= | CA2082820562 | BRCA2 | c.3770C= (p.Pro1257=) c.3401C= (p.Pro1134=) n.3770C= | |
13 | g.32338125C>G | CA387778265 | BRCA2 | c.3770C>G (p.Pro1257Arg) c.3401C>G (p.Pro1134Arg) n.3770C>G | dbSNP |
13 | g.32338125C>T | CA018762 | BRCA2 | c.3770C>T (p.Pro1257Leu) c.3401C>T (p.Pro1134Leu) n.3770C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338125_32338126delinsCA | CA2082820568 | BRCA2 | c.3770_3771delinsCA (p.Pro1257=) c.3401_3402delinsCA (p.Pro1134=) n.3770_3771delinsCA | |
13 | g.32338128_32338142del | CA2580087225 | BRCA2 | c.3773_3787del (p.Ile1258_Ser1262del) c.3404_3418del (p.Ile1135_Ser1139del) n.3773_3787del | ClinVar |
13 | g.32338126A= | CA2082820580 | BRCA2 | c.3771A= (p.Pro1257=) c.3402A= (p.Pro1134=) n.3771A= | |
13 | g.32338126A>C | CA483437908 | BRCA2 | c.3771A>C (p.Pro1257=) c.3402A>C (p.Pro1134=) n.3771A>C | dbSNP |
13 | g.32338126A>G | CA018767 | BRCA2 | c.3771A>G (p.Pro1257=) c.3402A>G (p.Pro1134=) n.3771A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338126A>T | CA16614145 | BRCA2 | c.3771A>T (p.Pro1257=) c.3402A>T (p.Pro1134=) n.3771A>T | ClinVar dbSNP |
13 | g.32338127del | CA018776 | BRCA2 | c.3772del (p.Ile1258Ter) c.3403del (p.Ile1135Ter) n.3772del | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32338126_32338128delinsAAT | CA2082820577 | BRCA2 | c.3771_3773delinsAAT (p.Pro1257=) c.3402_3404delinsAAT (p.Pro1134=) n.3771_3773delinsAAT | |
13 | g.32338127A= | CA2082820598 | BRCA2 | c.3772A= (p.Ile1258=) c.3403A= (p.Ile1135=) n.3772A= | |
13 | g.32338127A>C | CA387778271 | BRCA2 | c.3772A>C (p.Ile1258Leu) c.3403A>C (p.Ile1135Leu) n.3772A>C | |
13 | g.32338127A>G | CA018772 | BRCA2 | c.3772A>G (p.Ile1258Val) c.3403A>G (p.Ile1135Val) n.3772A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338127A>T | CA387778273 | BRCA2 | c.3772A>T (p.Ile1258Leu) c.3403A>T (p.Ile1135Leu) n.3772A>T | dbSNP |
13 | g.32338128_32338129del | CA018782 | BRCA2 | c.3773_3774del (p.Ile1258LysfsTer6) c.3404_3405del (p.Ile1135LysfsTer6) n.3773_3774del | ClinVar dbSNP |
13 | g.32338128T>A | CA6940724 | BRCA2 | c.3773T>A (p.Ile1258Lys) c.3404T>A (p.Ile1135Lys) n.3773T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338128T>C | CA387778281 | BRCA2 | c.3773T>C (p.Ile1258Thr) c.3404T>C (p.Ile1135Thr) n.3773T>C | |
13 | g.32338128T>G | CA387778277 | BRCA2 | c.3773T>G (p.Ile1258Arg) c.3404T>G (p.Ile1135Arg) n.3773T>G | ClinVar dbSNP |
13 | g.32338128T= | CA2082820623 | BRCA2 | c.3773T= (p.Ile1258=) c.3404T= (p.Ile1135=) n.3773T= | |
13 | g.32338128_32338130delinsTAA | CA2082820608 | BRCA2 | c.3773_3775delinsTAA (p.Ile1258=) c.3404_3406delinsTAA (p.Ile1135=) n.3773_3775delinsTAA | |
13 | g.32338129A= | CA2082820643 | BRCA2 | c.3774A= (p.Ile1258=) c.3405A= (p.Ile1135=) n.3774A= | |
13 | g.32338129A>C | CA483437910 | BRCA2 | c.3774A>C (p.Ile1258=) c.3405A>C (p.Ile1135=) n.3774A>C | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338129A>G | CA387778283 | BRCA2 | c.3774A>G (p.Ile1258Met) c.3405A>G (p.Ile1135Met) n.3774A>G | |
13 | g.32338129A>T | CA483437912 | BRCA2 | c.3774A>T (p.Ile1258=) c.3405A>T (p.Ile1135=) n.3774A>T | dbSNP |
13 | g.32338129_32338130del | CA10586515 | BRCA2 | c.3774_3775del (p.Ile1258MetfsTer6) c.3405_3406del (p.Ile1135MetfsTer6) n.3774_3775del | ClinVar dbSNP |
13 | g.32338130A= | CA2082820658 | BRCA2 | c.3775A= (p.Ser1259=) c.3406A= (p.Ser1136=) n.3775A= | |
13 | g.32338130A>C | CA018788 | BRCA2 | c.3775A>C (p.Ser1259Arg) c.3406A>C (p.Ser1136Arg) n.3775A>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338130A>G | CA387778287 | BRCA2 | c.3775A>G (p.Ser1259Gly) c.3406A>G (p.Ser1136Gly) n.3775A>G | |
13 | g.32338130A>T | CA387778289 | BRCA2 | c.3775A>T (p.Ser1259Cys) c.3406A>T (p.Ser1136Cys) n.3775A>T | dbSNP |
13 | g.32338130_32338137dup | CA2573149335 | BRCA2 | c.3775_3782dup (p.Ser1262ValfsTer17) c.3406_3413dup (p.Ser1139ValfsTer17) n.3775_3782dup | ClinVar dbSNP |
13 | g.32338131G>A | CA6940725 | BRCA2 | c.3776G>A (p.Ser1259Asn) c.3407G>A (p.Ser1136Asn) n.3776G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338131G>C | CA387778292 | BRCA2 | c.3776G>C (p.Ser1259Thr) c.3407G>C (p.Ser1136Thr) n.3776G>C | |
13 | g.32338131G= | CA2082820668 | BRCA2 | c.3776G= (p.Ser1259=) c.3407G= (p.Ser1136=) n.3776G= | |
13 | g.32338131G>T | CA387778294 | BRCA2 | c.3776G>T (p.Ser1259Ile) c.3407G>T (p.Ser1136Ile) n.3776G>T | gnomAD v4 |