| 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 |
| 17 | g.7633209G= | CA2245888590 | SHBG | c.1066G= (p.Asp356=) c.892G= (p.Asp298=) c.858G= (p.Lys286=) c.721G= (p.Asp241=) c.*428G= (n.*428G=) c.*1024G= (n.*1024G=) c.547G= (p.Asp183=) c.615G= (p.Lys205=) c.225G= (p.Lys75=) c.730G= (p.Asp244=) c.684G= (p.Lys228=) c.318G= (p.Lys106=) c.1012G= (p.Asp338=) c.478G= (p.Asp160=) c.385G= (p.Asp129=) c.522G= (p.Lys174=) c.640G= (p.Asp214=) c.718G= (p.Asp240=) | dbSNP |