| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23950159G>T | CA8917248 | LAMA3 | c.4815G>T (p.Lys1605Asn) c.9642G>T (p.Lys3214Asn) c.6237G>T (p.Lys2079Asn) c.9474G>T (p.Lys3158Asn) c.4647G>T (p.Lys1549Asn) c.163G>T n.4220G>T c.9669G>T (p.Lys3223Asn) c.9660G>T (p.Lys3220Asn) c.9651G>T (p.Lys3217Asn) c.9537G>T (p.Lys3179Asn) c.9372G>T (p.Lys3124Asn) c.7521G>T (p.Lys2507Asn) c.5211G>T (p.Lys1737Asn) n.9910G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 18 | g.23950159G= | CA2290343608 | LAMA3 | c.4815G= (p.Lys1605=) c.9642G= (p.Lys3214=) c.6237G= (p.Lys2079=) c.9474G= (p.Lys3158=) c.4647G= (p.Lys1549=) c.163G= n.4220G= c.9669G= (p.Lys3223=) c.9660G= (p.Lys3220=) c.9651G= (p.Lys3217=) c.9537G= (p.Lys3179=) c.9372G= (p.Lys3124=) c.7521G= (p.Lys2507=) c.5211G= (p.Lys1737=) n.9910G= | dbSNP |
| 18 | g.23950159G>C | CA402052146 | LAMA3 | c.4815G>C (p.Lys1605Asn) c.9642G>C (p.Lys3214Asn) c.6237G>C (p.Lys2079Asn) c.9474G>C (p.Lys3158Asn) c.4647G>C (p.Lys1549Asn) c.163G>C n.4220G>C c.9669G>C (p.Lys3223Asn) c.9660G>C (p.Lys3220Asn) c.9651G>C (p.Lys3217Asn) c.9537G>C (p.Lys3179Asn) c.9372G>C (p.Lys3124Asn) c.7521G>C (p.Lys2507Asn) c.5211G>C (p.Lys1737Asn) n.9910G>C | dbSNP gnomAD v4 |