Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.32081419C>T | CA170658 | TNXB | c.3991G>A (p.Gly1331Arg) c.4732G>A (p.Gly1578Arg) c.4252G>A (p.Gly1418Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32081419C>G | CA363431924 | TNXB | c.3991G>C (p.Gly1331Arg) c.4732G>C (p.Gly1578Arg) c.4252G>C (p.Gly1418Arg) | dbSNP |