Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.6305487G>A | CA448646379 | F13A1 | c.183C>T (p.Asn61=) c.345C>T (p.Asn115=) c.257C>T n.168C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6305487G>T | CA126621 | F13A1 | c.183C>A (p.Asn61Lys) c.345C>A (p.Asn115Lys) c.257C>A n.168C>A | ClinVar dbSNP gnomAD v4 |
6 | g.6305487G>C | CA362742294 | F13A1 | c.183C>G (p.Asn61Lys) c.345C>G (p.Asn115Lys) c.257C>G n.168C>G | dbSNP gnomAD v4 |