| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.29193706T>A | CA346462293 | ALK,CLIP4 | c.1923-3222T>A (n.1923-3222T>A) c.4381A>T (p.Ile1461Phe) c.1608A>T n.1258A>T c.1177A>T (p.Ile393Phe) c.1261A>T (p.Ile421Phe) c.3250A>T (p.Ile1084Phe) c.1534A>T (p.Ile512Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.29193706T>C | CA156632 | ALK,CLIP4 | c.1923-3222T>C (n.1923-3222T>C) c.4381A>G (p.Ile1461Val) c.1608A>G n.1258A>G c.1177A>G (p.Ile393Val) c.1261A>G (p.Ile421Val) c.3250A>G (p.Ile1084Val) c.1534A>G (p.Ile512Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.29193706T>G | CA346462295 | ALK,CLIP4 | c.1923-3222T>G (n.1923-3222T>G) c.4381A>C (p.Ile1461Leu) c.1608A>C n.1258A>C c.1177A>C (p.Ile393Leu) c.1261A>C (p.Ile421Leu) c.3250A>C (p.Ile1084Leu) c.1534A>C (p.Ile512Leu) | dbSNP gnomAD v3 gnomAD v4 |