| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.158614301A>T | CA343013528 | SPTA1 | c.6794T>A (p.Ile2265Asn) n.235T>A n.226T>A c.6776T>A (p.Ile2259Asn) | dbSNP gnomAD v4 |
| 1 | g.158614301A>G | CA1181833 | SPTA1 | c.6794T>C (p.Ile2265Thr) n.235T>C n.226T>C c.6776T>C (p.Ile2259Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |