Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.156876441G>T | CA342938474 | NTRK1 | c.1494G>T (p.Gln498His) c.*266G>T (n.*266G>T) c.1674G>T (p.Gln558His) c.1665G>T (p.Gln555His) c.1656G>T (p.Gln552His) c.1566G>T (p.Gln522His) n.2127G>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.156876441G>A | CA1169435 | NTRK1 | c.1494G>A (p.Gln498=) c.*266G>A (n.*266G>A) c.1674G>A (p.Gln558=) c.1665G>A (p.Gln555=) c.1656G>A (p.Gln552=) c.1566G>A (p.Gln522=) n.2127G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.156876441G>C | CA1169436 | NTRK1 | c.1494G>C (p.Gln498His) c.*266G>C (n.*266G>C) c.1674G>C (p.Gln558His) c.1665G>C (p.Gln555His) c.1656G>C (p.Gln552His) c.1566G>C (p.Gln522His) n.2127G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.156876441G= | CA1139773135 | NTRK1 | c.1494G= (p.Gln498=) c.*266G= (n.*266G=) c.1674G= (p.Gln558=) c.1665G= (p.Gln555=) c.1656G= (p.Gln552=) c.1566G= (p.Gln522=) n.2127G= | dbSNP |