| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.26026879C>A | CA204948 | MYO18B | c.6905C>A (p.Ser2302Ter) c.6908C>A (p.Ser2303Ter) n.5476C>A c.*4363C>A (n.*4363C>A) c.754C>A c.7034C>A (p.Ser2345Ter) c.7031C>A (p.Ser2344Ter) c.6551C>A (p.Ser2184Ter) c.6902C>A (p.Ser2301Ter) c.4370C>A (p.Ser1457Ter) c.4367C>A (p.Ser1456Ter) | ClinVar dbSNP gnomAD v4 |
| 22 | g.26026879C>T | CA10161643 | MYO18B | c.6905C>T (p.Ser2302Leu) c.6908C>T (p.Ser2303Leu) n.5476C>T c.*4363C>T (n.*4363C>T) c.754C>T c.7034C>T (p.Ser2345Leu) c.7031C>T (p.Ser2344Leu) c.6551C>T (p.Ser2184Leu) c.6902C>T (p.Ser2301Leu) c.4370C>T (p.Ser1457Leu) c.4367C>T (p.Ser1456Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.26026879C= | CA2399004286 | MYO18B | c.6905C= (p.Ser2302=) c.6908C= (p.Ser2303=) n.5476C= c.*4363C= (n.*4363C=) c.754C= c.7034C= (p.Ser2345=) c.7031C= (p.Ser2344=) c.6551C= (p.Ser2184=) c.6902C= (p.Ser2301=) c.4370C= (p.Ser1457=) c.4367C= (p.Ser1456=) | dbSNP |