| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16169810G>A | CA278636288 | ABCC6 | c.2831C>T (p.Thr944Ile) c.2656C>T (n.2656C>T) c.*40C>T (n.*40C>T) c.2798C>T (p.Thr933Ile) c.2489C>T (p.Thr830Ile) n.3066C>T n.3067C>T n.2693C>T c.2663C>T (p.Thr888Ile) c.2867C>T (p.Thr956Ile) n.3012C>T | ClinVar dbSNP |
| 16 | g.16169810G>T | CA7925772 | ABCC6 | c.2831C>A (p.Thr944Asn) c.2656C>A (n.2656C>A) c.*40C>A (n.*40C>A) c.2798C>A (p.Thr933Asn) c.2489C>A (p.Thr830Asn) n.3066C>A n.3067C>A n.2693C>A c.2663C>A (p.Thr888Asn) c.2867C>A (p.Thr956Asn) n.3012C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16169810G>C | CA394884952 | ABCC6 | c.2831C>G (p.Thr944Ser) c.2656C>G (n.2656C>G) c.*40C>G (n.*40C>G) c.2798C>G (p.Thr933Ser) c.2489C>G (p.Thr830Ser) n.3066C>G n.3067C>G n.2693C>G c.2663C>G (p.Thr888Ser) c.2867C>G (p.Thr956Ser) n.3012C>G | dbSNP gnomAD v3 gnomAD v4 |