| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644722C>T | CA16604827 | BTD | c.806C>T (p.Ala269Val) c.399+2665C>T (n.399+2665C>T) c.165+2665C>T (n.165+2665C>T) c.866C>T (p.Ala289Val) c.872C>T (p.Ala291Val) c.584C>T (p.Ala195Val) c.*2584C>T (n.*2584C>T) | ClinVar dbSNP |
| 3 | g.15644722C>A | CA351607392 | BTD | c.806C>A (p.Ala269Asp) c.399+2665C>A (n.399+2665C>A) c.165+2665C>A (n.165+2665C>A) c.866C>A (p.Ala289Asp) c.872C>A (p.Ala291Asp) c.584C>A (p.Ala195Asp) c.*2584C>A (n.*2584C>A) | dbSNP gnomAD v4 |
| 3 | g.15644722C= | CA1347664330 | BTD | c.806C= (p.Ala269=) c.399+2665C= (n.399+2665C=) c.165+2665C= (n.165+2665C=) c.866C= (p.Ala289=) c.872C= (p.Ala291=) c.584C= (p.Ala195=) c.*2584C= (n.*2584C=) | dbSNP |