| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.45175340_45175343del | CA7169373 | FANCM | c.798_801del (p.Lys267IlefsTer12) c.2379_2382del (p.Lys794IlefsTer12) c.2427_2430del (p.Lys810IlefsTer12) c.*1397_*1400del (n.*1397_*1400del) c.2586_2589del (p.Lys863IlefsTer12) c.*611_*614del (n.*611_*614del) c.2430_2433del (p.Lys811IlefsTer12) n.2534_2537del c.584_587del c.1403_1406del c.2508_2511del (p.Lys837IlefsTer12) c.1134_1137del (p.Lys379IlefsTer12) c.600_603del (p.Lys201IlefsTer12) c.1623_1626del (p.Lys542IlefsTer12) c.1401_1404del (p.Lys468IlefsTer12) n.2678_2681del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.45175343del | CA2573149956 | FANCM | c.801del (p.Asp268IlefsTer12) c.2382del (p.Asp795IlefsTer12) c.2430del (p.Asp811IlefsTer12) c.*1400del (n.*1400del) c.2589del (p.Asp864IlefsTer12) c.*614del (n.*614del) c.2433del (p.Asp812IlefsTer12) n.2537del c.587del c.1406del c.2511del (p.Asp838IlefsTer12) c.1137del (p.Asp380IlefsTer12) c.603del (p.Asp202IlefsTer12) c.1626del (p.Asp543IlefsTer12) c.1404del (p.Asp469IlefsTer12) n.2681del | ClinVar dbSNP gnomAD v4 |
| 14 | g.45175343dup | CA614273453 | FANCM | c.801dup (p.Asp268ArgfsTer4) c.2382dup (p.Asp795ArgfsTer4) c.2430dup (p.Asp811ArgfsTer4) c.*1400dup (n.*1400dup) c.2589dup (p.Asp864ArgfsTer4) c.*614dup (n.*614dup) c.2433dup (p.Asp812ArgfsTer4) n.2537dup c.587dup c.1406dup c.2511dup (p.Asp838ArgfsTer4) c.1137dup (p.Asp380ArgfsTer4) c.603dup (p.Asp202ArgfsTer4) c.1626dup (p.Asp543ArgfsTer4) c.1404dup (p.Asp469ArgfsTer4) n.2681dup | dbSNP gnomAD v2 gnomAD v4 |