Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.10705375del | CA16044177 | PIEZO2 | c.5696del (p.Leu1899ArgfsTer5) c.704del (p.Leu235ArgfsTer5) c.5960del (p.Leu1987ArgfsTer5) c.5621del (p.Leu1874ArgfsTer5) c.5474del (p.Leu1825ArgfsTer5) c.5827del (n.5827del) c.5753del (p.Leu1918ArgfsTer5) c.5663del (p.Leu1888ArgfsTer5) c.5714del (p.Leu1905ArgfsTer5) n.6750del | ClinVar dbSNP |
18 | g.10705375A= | CA2284425240 | PIEZO2 | c.5696T= (p.Leu1899=) c.704T= (p.Leu235=) c.5960T= (p.Leu1987=) c.5621T= (p.Leu1874=) c.5474T= (p.Leu1825=) c.5827T= (n.5827T=) c.5753T= (p.Leu1918=) c.5663T= (p.Leu1888=) c.5714T= (p.Leu1905=) n.6750T= | dbSNP dbSNP |