Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89740849_89740851dup | CA2241890759 | FANCA,ZNF276 | c.*2266_*2268dup (n.*2266_*2268dup) c.3788_3790dup (p.Phe1263_Ser1264insPhe) c.2358_2360dup (n.2358_2360dup) n.3749_3751dup c.*3023_*3025dup (n.*3023_*3025dup) c.3659_3661dup (p.Phe1220_Ser1221insPhe) c.*3220_*3222dup (n.*3220_*3222dup) c.*2603_*2605dup (n.*2603_*2605dup) n.1031_1033dup c.118_120dup c.30-745_30-743dup n.73_75dup c.266_268dup (p.Phe89_Ser90insPhe) c.497_499dup c.2765_2767dup (p.Phe922_Ser923insPhe) n.3831_3833dup n.3692_3694dup n.3658_3660dup n.4603_4605dup n.4486_4488dup n.4520_4522dup n.4426_4428dup | dbSNP |
16 | g.89740849_89740851del | CA159322 | FANCA,ZNF276 | c.*2266_*2268del (n.*2266_*2268del) c.3788_3790del (p.Phe1263del) c.2358_2360del (n.2358_2360del) n.3749_3751del c.*3023_*3025del (n.*3023_*3025del) c.3659_3661del (p.Phe1220del) c.*3220_*3222del (n.*3220_*3222del) c.*2603_*2605del (n.*2603_*2605del) n.1031_1033del c.118_120del c.30-745_30-743del n.73_75del c.266_268del (p.Phe89del) c.497_499del c.2765_2767del (p.Phe922del) n.3831_3833del n.3692_3694del n.3658_3660del n.4603_4605del n.4486_4488del n.4520_4522del n.4426_4428del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |