| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.6452001G>A | CA116850 | ESPN | c.260G>A c.532G>A (p.Asp178Asn) c.298G>A (p.Asp100Asn) c.285G>A c.2230G>A (p.Asp744Asn) c.355G>A (p.Asp119Asn) c.295G>A (p.Asp99Asn) n.285G>A c.379G>A (p.Asp127Asn) c.2167G>A (p.Asp723Asn) c.2140G>A (p.Asp714Asn) c.1771G>A (p.Asp591Asn) c.1108G>A (p.Asp370Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.6452001G>T | CA560429 | ESPN | c.260G>T c.532G>T (p.Asp178Tyr) c.298G>T (p.Asp100Tyr) c.285G>T c.2230G>T (p.Asp744Tyr) c.355G>T (p.Asp119Tyr) c.295G>T (p.Asp99Tyr) n.285G>T c.379G>T (p.Asp127Tyr) c.2167G>T (p.Asp723Tyr) c.2140G>T (p.Asp714Tyr) c.1771G>T (p.Asp591Tyr) c.1108G>T (p.Asp370Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6452001G>C | CA338099696 | ESPN | c.260G>C c.532G>C (p.Asp178His) c.298G>C (p.Asp100His) c.285G>C c.2230G>C (p.Asp744His) c.355G>C (p.Asp119His) c.295G>C (p.Asp99His) n.285G>C c.379G>C (p.Asp127His) c.2167G>C (p.Asp723His) c.2140G>C (p.Asp714His) c.1771G>C (p.Asp591His) c.1108G>C (p.Asp370His) | dbSNP gnomAD v4 |