| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.71215470A>C | CA254276 | EYA1 | c.1514T>G (p.Leu505Arg) c.1412T>G (p.Leu471Arg) c.1409T>G (p.Leu470Arg) c.*793T>G (n.*793T>G) n.1977T>G c.*1191T>G (n.*1191T>G) c.1601T>G (p.Leu534Arg) c.1496T>G (p.Leu499Arg) n.584T>G c.1493T>G (p.Leu498Arg) c.1415T>G (p.Leu472Arg) c.1511T>G (p.Leu504Arg) n.2009T>G c.1148T>G (p.Leu383Arg) c.1586T>G (p.Leu529Arg) c.1499T>G (p.Leu500Arg) c.1451T>G (p.Leu484Arg) c.1163T>G (p.Leu388Arg) c.1598T>G (p.Leu533Arg) c.1583T>G (p.Leu528Arg) | ClinVar dbSNP |
| 8 | g.71215470A= | CA1792691597 | EYA1 | c.1514T= (p.Leu505=) c.1412T= (p.Leu471=) c.1409T= (p.Leu470=) c.*793T= (n.*793T=) n.1977T= c.*1191T= (n.*1191T=) c.1601T= (p.Leu534=) c.1496T= (p.Leu499=) n.584T= c.1493T= (p.Leu498=) c.1415T= (p.Leu472=) c.1511T= (p.Leu504=) n.2009T= c.1148T= (p.Leu383=) c.1586T= (p.Leu529=) c.1499T= (p.Leu500=) c.1451T= (p.Leu484=) c.1163T= (p.Leu388=) c.1598T= (p.Leu533=) c.1583T= (p.Leu528=) | dbSNP |