| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.43432448T>A | CA392112131 | TP53BP1 | c.3421A>T (p.Lys1141Ter) c.3406A>T (p.Lys1136Ter) c.1294A>T c.85-4280A>T n.3534A>T c.541A>T (p.Lys181Ter) n.3533A>T n.3304-4280A>T n.3305-4280A>T | dbSNP |
| 15 | g.43432448T>G | CA7524945 | TP53BP1 | c.3421A>C (p.Lys1141Gln) c.3406A>C (p.Lys1136Gln) c.1294A>C c.85-4280A>C n.3534A>C c.541A>C (p.Lys181Gln) n.3533A>C n.3304-4280A>C n.3305-4280A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43432448T= | CA2173181956 | TP53BP1 | c.3421A= (p.Lys1141=) c.3406A= (p.Lys1136=) c.1294A= c.85-4280A= n.3534A= c.541A= (p.Lys181=) n.3533A= n.3304-4280A= n.3305-4280A= | dbSNP |