| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71438985C>T | CA341830 | DHCR7 | c.725G>A (p.Arg242His) c.551G>A (p.Arg184His) c.776G>A (p.Arg259His) c.761G>A (p.Arg254His) n.765G>A c.140G>A (p.Arg47His) c.629G>A (p.Arg210His) c.92G>A (p.Arg31His) n.220G>A c.81G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71438985C= | CA1981488590 | DHCR7 | c.725G= (p.Arg242=) c.551G= (p.Arg184=) c.776G= (p.Arg259=) c.761G= (p.Arg254=) n.765G= c.140G= (p.Arg47=) c.629G= (p.Arg210=) c.92G= (p.Arg31=) n.220G= c.81G= | dbSNP |
| 11 | g.71438985C>A | CA381703398 | DHCR7 | c.725G>T (p.Arg242Leu) c.551G>T (p.Arg184Leu) c.776G>T (p.Arg259Leu) c.761G>T (p.Arg254Leu) n.765G>T c.140G>T (p.Arg47Leu) c.629G>T (p.Arg210Leu) c.92G>T (p.Arg31Leu) n.220G>T c.81G>T | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.71438985C>G | CA381703399 | DHCR7 | c.725G>C (p.Arg242Pro) c.551G>C (p.Arg184Pro) c.776G>C (p.Arg259Pro) c.761G>C (p.Arg254Pro) n.765G>C c.140G>C (p.Arg47Pro) c.629G>C (p.Arg210Pro) c.92G>C (p.Arg31Pro) n.220G>C c.81G>C | ClinVar dbSNP |