Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.7633209G>C | CA397896558 | SHBG | c.1066G>C (p.Asp356His) c.892G>C (p.Asp298His) c.858G>C (p.Lys286Asn) c.721G>C (p.Asp241His) c.*428G>C (n.*428G>C) c.*1024G>C (n.*1024G>C) c.547G>C (p.Asp183His) c.615G>C (p.Lys205Asn) c.225G>C (p.Lys75Asn) c.730G>C (p.Asp244His) c.684G>C (p.Lys228Asn) c.318G>C (p.Lys106Asn) c.1012G>C (p.Asp338His) c.478G>C (p.Asp160His) c.385G>C (p.Asp129His) c.522G>C (p.Lys174Asn) c.640G>C (p.Asp214His) c.718G>C (p.Asp240His) | dbSNP |
17 | g.7633209G>A | CA8354480 | SHBG | c.1066G>A (p.Asp356Asn) c.892G>A (p.Asp298Asn) c.858G>A (p.Lys286=) c.721G>A (p.Asp241Asn) c.*428G>A (n.*428G>A) c.*1024G>A (n.*1024G>A) c.547G>A (p.Asp183Asn) c.615G>A (p.Lys205=) c.225G>A (p.Lys75=) c.730G>A (p.Asp244Asn) c.684G>A (p.Lys228=) c.318G>A (p.Lys106=) c.1012G>A (p.Asp338Asn) c.478G>A (p.Asp160Asn) c.385G>A (p.Asp129Asn) c.522G>A (p.Lys174=) c.640G>A (p.Asp214Asn) c.718G>A (p.Asp240Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |