| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435475C>G | CA6162260 | DHCR7 | c.1328G>C (p.Arg443Pro) c.1154G>C (p.Arg385Pro) c.1379G>C (p.Arg460Pro) c.1364G>C (p.Arg455Pro) c.*91G>C (n.*91G>C) n.1368G>C c.743G>C (p.Arg248Pro) c.1232G>C (p.Arg411Pro) c.829G>C (n.829G>C) c.578G>C (p.Arg193Pro) c.319+2337G>C | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.71435475C>A | CA6162262 | DHCR7 | c.1328G>T (p.Arg443Leu) c.1154G>T (p.Arg385Leu) c.1379G>T (p.Arg460Leu) c.1364G>T (p.Arg455Leu) c.*91G>T (n.*91G>T) n.1368G>T c.743G>T (p.Arg248Leu) c.1232G>T (p.Arg411Leu) c.829G>T (n.829G>T) c.578G>T (p.Arg193Leu) c.319+2337G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435475C>T | CA6162261 | DHCR7 | c.1328G>A (p.Arg443His) c.1154G>A (p.Arg385His) c.1379G>A (p.Arg460His) c.1364G>A (p.Arg455His) c.*91G>A (n.*91G>A) n.1368G>A c.743G>A (p.Arg248His) c.1232G>A (p.Arg411His) c.829G>A (n.829G>A) c.578G>A (p.Arg193His) c.319+2337G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |