| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133456597dup | CA117760 | ADAMTS13 | c.3602dup (p.Leu1202ValfsTer?) c.3509dup (p.Leu1171ValfsTer?) c.158dup (p.Leu54ValfsTer?) c.*1071dup (n.*1071dup) c.3770dup (p.Leu1258ValfsTer?) n.2418dup n.2437dup c.3380dup (p.Leu1128ValfsTer?) c.2786dup (p.Leu930ValfsTer?) c.2780dup (p.Leu928ValfsTer?) c.2435dup (p.Leu813ValfsTer?) c.2036dup (p.Leu680ValfsTer?) c.3758dup (p.Leu1254ValfsTer?) n.2439dup | ClinVar dbSNP |
| 9 | g.133456597T= | CA3165433000 | ADAMTS13 | c.3602T= (p.Leu1201=) c.3509T= (p.Leu1170=) c.158T= (p.Leu53=) c.*1071T= (n.*1071T=) c.3770T= (p.Leu1257=) n.2418T= n.2437T= c.3380T= (p.Leu1127=) c.2786T= (p.Leu929=) c.2780T= (p.Leu927=) c.2435T= (p.Leu812=) c.2036T= (p.Leu679=) c.3758T= (p.Leu1253=) n.2439T= | dbSNP |