| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.156876496G>C | CA256262 | NTRK1 | c.1549G>C (p.Gly517Arg) c.*321G>C (n.*321G>C) c.1729G>C (p.Gly577Arg) c.1720G>C (p.Gly574Arg) c.1711G>C (p.Gly571Arg) c.1621G>C (p.Gly541Arg) n.2182G>C | ClinVar dbSNP |
| 1 | g.156876496G>T | CA342938590 | NTRK1 | c.1549G>T (p.Gly517Cys) c.*321G>T (n.*321G>T) c.1729G>T (p.Gly577Cys) c.1720G>T (p.Gly574Cys) c.1711G>T (p.Gly571Cys) c.1621G>T (p.Gly541Cys) n.2182G>T | dbSNP |
| 1 | g.156876496G>A | CA1169449 | NTRK1 | c.1549G>A (p.Gly517Ser) c.*321G>A (n.*321G>A) c.1729G>A (p.Gly577Ser) c.1720G>A (p.Gly574Ser) c.1711G>A (p.Gly571Ser) c.1621G>A (p.Gly541Ser) n.2182G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |