| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.56552484C>A | CA364513898 | DST | c.9417G>T (p.Met3139Ile) c.9951G>T (p.Met3317Ile) c.9537G>T (p.Met3179Ile) c.16308G>T (p.Met5436Ile) c.8439G>T (p.Met2813Ile) c.15675G>T (p.Met5225Ile) c.16209G>T (p.Met5403Ile) c.16023G>T (p.Met5341Ile) c.15894G>T (p.Met5298Ile) c.15795G>T (p.Met5265Ile) c.15774G>T (p.Met5258Ile) c.15753G>T (p.Met5251Ile) c.14697G>T (p.Met4899Ile) c.16236G>T (p.Met5412Ile) c.9978G>T (p.Met3326Ile) c.16335G>T (p.Met5445Ile) c.16272G>T (p.Met5424Ile) c.16101G>T (p.Met5367Ile) c.15711G>T (p.Met5237Ile) c.10902G>T (p.Met3634Ile) c.10077G>T (p.Met3359Ile) c.9843G>T (p.Met3281Ile) c.9765G>T (p.Met3255Ile) c.15654G>T (p.Met5218Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.56552484C>T | CA3867697 | DST | c.9417G>A (p.Met3139Ile) c.9951G>A (p.Met3317Ile) c.9537G>A (p.Met3179Ile) c.16308G>A (p.Met5436Ile) c.8439G>A (p.Met2813Ile) c.15675G>A (p.Met5225Ile) c.16209G>A (p.Met5403Ile) c.16023G>A (p.Met5341Ile) c.15894G>A (p.Met5298Ile) c.15795G>A (p.Met5265Ile) c.15774G>A (p.Met5258Ile) c.15753G>A (p.Met5251Ile) c.14697G>A (p.Met4899Ile) c.16236G>A (p.Met5412Ile) c.9978G>A (p.Met3326Ile) c.16335G>A (p.Met5445Ile) c.16272G>A (p.Met5424Ile) c.16101G>A (p.Met5367Ile) c.15711G>A (p.Met5237Ile) c.10902G>A (p.Met3634Ile) c.10077G>A (p.Met3359Ile) c.9843G>A (p.Met3281Ile) c.9765G>A (p.Met3255Ile) c.15654G>A (p.Met5218Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |