Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.149981314T>C | CA202204 | SLC26A2 | c.1721T>C (p.Ile574Thr) c.372+2963T>C (n.372+2963T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149981314T>A | CA361708593 | SLC26A2 | c.1721T>A (p.Ile574Asn) c.372+2963T>A (n.372+2963T>A) | dbSNP |
5 | g.149981314T>G | CA361708595 | SLC26A2 | c.1721T>G (p.Ile574Ser) c.372+2963T>G (n.372+2963T>G) | dbSNP |