| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.102669004G>A | CA115141 | MANBA | c.1414C>T (p.Gln472Ter) c.1276C>T (p.Gln426Ter) c.*128C>T (n.*128C>T) c.944C>T c.*396C>T (n.*396C>T) c.*130C>T (n.*130C>T) c.1153C>T (n.1153C>T) c.1105C>T (p.Gln369Ter) n.1401C>T c.370C>T (p.Gln124Ter) c.31C>T (p.Gln11Ter) c.913C>T (p.Gln305Ter) c.628C>T (p.Gln210Ter) c.1201C>T (p.Gln401Ter) | ClinVar dbSNP gnomAD v4 |
| 4 | g.102669004G>C | CA3026951 | MANBA | c.1414C>G (p.Gln472Glu) c.1276C>G (p.Gln426Glu) c.*128C>G (n.*128C>G) c.944C>G c.*396C>G (n.*396C>G) c.*130C>G (n.*130C>G) c.1153C>G (n.1153C>G) c.1105C>G (p.Gln369Glu) n.1401C>G c.370C>G (p.Gln124Glu) c.31C>G (p.Gln11Glu) c.913C>G (p.Gln305Glu) c.628C>G (p.Gln210Glu) c.1201C>G (p.Gln401Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |