| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108687510dup | CA259043 | COL4A5 | c.4344dup (p.Pro1449SerfsTer?) c.4326dup (p.Pro1443SerfsTer?) n.838dup c.140dup c.4335dup (p.Pro1446SerfsTer?) c.4020dup (p.Pro1341SerfsTer?) c.1917dup (p.Pro640SerfsTer?) c.4359dup (p.Pro1454SerfsTer?) c.4350dup (p.Pro1451SerfsTer?) c.4341dup (p.Pro1448SerfsTer?) c.2679dup (p.Pro894SerfsTer?) | dbSNP |
| X | g.108687510T= | CA2450719224 | COL4A5 | c.4344T= (p.Gly1448=) c.4326T= (p.Gly1442=) n.838T= c.140T= c.4335T= (p.Gly1445=) c.4020T= (p.Gly1340=) c.1917T= (p.Gly639=) c.4359T= (p.Gly1453=) c.4350T= (p.Gly1450=) c.4341T= (p.Gly1447=) c.2679T= (p.Gly893=) | dbSNP dbSNP |