| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.39666063G>C | CA399306011 | TCAP | c.458G>C (p.Arg153Pro) c.386G>C (p.Arg129Pro) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666063G>A | CA134926 | TCAP | c.458G>A (p.Arg153His) c.386G>A (p.Arg129His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666063G= | CA2259200893 | TCAP | c.458G= (p.Arg153=) c.386G= (p.Arg129=) | dbSNP |
| 17 | g.39666063G>T | CA399306014 | TCAP | c.458G>T (p.Arg153Leu) c.386G>T (p.Arg129Leu) | dbSNP gnomAD v4 |