| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71438906del | CA16041553 | DHCR7 | c.804del (p.Asn268LysfsTer14) c.630del (p.Asn210LysfsTer14) c.855del (p.Asn285LysfsTer14) c.840del (p.Asn280LysfsTer14) n.844del c.219del (p.Asn73LysfsTer14) c.708del (p.Asn236LysfsTer14) c.171del (p.Asn57LysfsTer14) c.54del (p.Asn18LysfsTer14) n.299del c.160del | ClinVar dbSNP |
| 11 | g.71438906A= | CA1981488550 | DHCR7 | c.804T= (p.Asn268=) c.630T= (p.Asn210=) c.855T= (p.Asn285=) c.840T= (p.Asn280=) n.844T= c.219T= (p.Asn73=) c.708T= (p.Asn236=) c.171T= (p.Asn57=) c.54T= (p.Asn18=) n.299T= c.160T= | dbSNP dbSNP |