| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49648546G>A | CA257978 | CHAT | c.1321G>A (p.Glu441Lys) c.*158G>A (n.*158G>A) c.184G>A (p.Glu62Lys) c.967G>A (p.Glu323Lys) c.1075G>A (p.Glu359Lys) c.*1052G>A (n.*1052G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49648546G>C | CA376742476 | CHAT | c.1321G>C (p.Glu441Gln) c.*158G>C (n.*158G>C) c.184G>C (p.Glu62Gln) c.967G>C (p.Glu323Gln) c.1075G>C (p.Glu359Gln) c.*1052G>C (n.*1052G>C) | dbSNP |
| 10 | g.49648546G>T | CA376742478 | CHAT | c.1321G>T (p.Glu441Ter) c.*158G>T (n.*158G>T) c.184G>T (p.Glu62Ter) c.967G>T (p.Glu323Ter) c.1075G>T (p.Glu359Ter) c.*1052G>T (n.*1052G>T) | dbSNP |