| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.36104605dup | CA259974 | WDR62 | c.4226dup (p.Ser1410GlufsTer?) c.4241dup (p.Ser1415GlufsTer?) c.*4101dup (n.*4101dup) c.2321dup c.986dup c.4235dup (p.Ser1413GlufsTer?) c.3890dup (p.Ser1298GlufsTer?) c.*3623dup (n.*3623dup) c.842dup (p.Ser282GlufsTer?) n.1744dup n.2890dup c.3992dup (p.Ser1332GlufsTer?) c.*2621dup (n.*2621dup) c.974dup c.1256dup n.2742dup c.*3544dup (n.*3544dup) n.2173dup n.2086dup c.*1573dup (n.*1573dup) n.2292dup c.4130dup (p.Ser1378GlufsTer?) c.3233dup (p.Ser1079GlufsTer?) c.2819dup (p.Ser941GlufsTer?) c.2672dup (p.Ser892GlufsTer?) c.1988dup (p.Ser664GlufsTer?) | ClinVar dbSNP gnomAD v4 |
| 19 | g.36104605T= | CA3233714352 | WDR62 | c.4226T= (p.Leu1409=) c.4241T= (p.Leu1414=) c.*4101T= (n.*4101T=) c.2321T= c.986T= c.4235T= (p.Leu1412=) c.3890T= (p.Leu1297=) c.*3623T= (n.*3623T=) c.842T= (p.Leu281=) n.1744T= n.2890T= c.3992T= (p.Leu1331=) c.*2621T= (n.*2621T=) c.974T= c.1256T= n.2742T= c.*3544T= (n.*3544T=) n.2173T= n.2086T= c.*1573T= (n.*1573T=) n.2292T= c.4130T= (p.Leu1377=) c.3233T= (p.Leu1078=) c.2819T= (p.Leu940=) c.2672T= (p.Leu891=) c.1988T= (p.Leu663=) | dbSNP dbSNP |