| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.30615623G>A | CA10184846 | TCN2 | n.2253G>A c.776G>A (p.Arg259His) c.*342G>A (n.*342G>A) c.623G>A (p.Arg208His) c.806G>A (p.Arg269His) c.767G>A (p.Arg256His) c.764G>A (p.Arg255His) c.695G>A (p.Arg232His) c.701G>A (p.Arg234His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.30615623G>C | CA113848 | TCN2 | n.2253G>C c.776G>C (p.Arg259Pro) c.*342G>C (n.*342G>C) c.623G>C (p.Arg208Pro) c.806G>C (p.Arg269Pro) c.767G>C (p.Arg256Pro) c.764G>C (p.Arg255Pro) c.695G>C (p.Arg232Pro) c.701G>C (p.Arg234Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.30615623G>T | CA411213055 | TCN2 | n.2253G>T c.776G>T (p.Arg259Leu) c.*342G>T (n.*342G>T) c.623G>T (p.Arg208Leu) c.806G>T (p.Arg269Leu) c.767G>T (p.Arg256Leu) c.764G>T (p.Arg255Leu) c.695G>T (p.Arg232Leu) c.701G>T (p.Arg234Leu) | dbSNP gnomAD v4 |
| 22 | g.30615623G= | CA2401111673 | TCN2 | n.2253G= c.776G= (p.Arg259=) c.*342G= (n.*342G=) c.623G= (p.Arg208=) c.806G= (p.Arg269=) c.767G= (p.Arg256=) c.764G= (p.Arg255=) c.695G= (p.Arg232=) c.701G= (p.Arg234=) | dbSNP |