| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71438966C>T | CA381703366 | DHCR7 | c.744G>A (p.Trp248Ter) c.570G>A (p.Trp190Ter) c.795G>A (p.Trp265Ter) c.780G>A (p.Trp260Ter) n.784G>A c.159G>A (p.Trp53Ter) c.648G>A (p.Trp216Ter) c.111G>A (p.Trp37Ter) n.239G>A c.100G>A | ClinVar dbSNP |
| 11 | g.71438966C>A | CA253942 | DHCR7 | c.744G>T (p.Trp248Cys) c.570G>T (p.Trp190Cys) c.795G>T (p.Trp265Cys) c.780G>T (p.Trp260Cys) n.784G>T c.159G>T (p.Trp53Cys) c.648G>T (p.Trp216Cys) c.111G>T (p.Trp37Cys) n.239G>T c.100G>T | ClinVar dbSNP |
| 11 | g.71438966C= | CA1981488576 | DHCR7 | c.744G= (p.Trp248=) c.570G= (p.Trp190=) c.795G= (p.Trp265=) c.780G= (p.Trp260=) n.784G= c.159G= (p.Trp53=) c.648G= (p.Trp216=) c.111G= (p.Trp37=) n.239G= c.100G= | dbSNP |
| 11 | g.71438966C>G | CA381703365 | DHCR7 | c.744G>C (p.Trp248Cys) c.570G>C (p.Trp190Cys) c.795G>C (p.Trp265Cys) c.780G>C (p.Trp260Cys) n.784G>C c.159G>C (p.Trp53Cys) c.648G>C (p.Trp216Cys) c.111G>C (p.Trp37Cys) n.239G>C c.100G>C | dbSNP gnomAD v4 |