| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435466C>G | CA381700763 | DHCR7 | c.1337G>C (p.Arg446Pro) c.1163G>C (p.Arg388Pro) c.1388G>C (p.Arg463Pro) c.1373G>C (p.Arg458Pro) c.*100G>C (n.*100G>C) n.1377G>C c.752G>C (p.Arg251Pro) c.1241G>C (p.Arg414Pro) c.838G>C (n.838G>C) c.587G>C (p.Arg196Pro) c.319+2346G>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.71435466C>T | CA6162258 | DHCR7 | c.1337G>A (p.Arg446Gln) c.1163G>A (p.Arg388Gln) c.1388G>A (p.Arg463Gln) c.1373G>A (p.Arg458Gln) c.*100G>A (n.*100G>A) n.1377G>A c.752G>A (p.Arg251Gln) c.1241G>A (p.Arg414Gln) c.838G>A (n.838G>A) c.587G>A (p.Arg196Gln) c.319+2346G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |