| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.30986418G>A | CA2632803488 | HSD3B7 | c.323-5G>A (n.323-5G>A) c.446-5G>A (n.446-5G>A) | gnomAD v4 |
| 16 | g.30986420C>A | CA622171139 | HSD3B7 | c.323-3C>A (n.323-3C>A) c.446-3C>A (n.446-3C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986420C= | CA2216821699 | HSD3B7 | c.323-3C= (n.323-3C=) c.446-3C= (n.446-3C=) | |
| 16 | g.30986420C>T | CA976326885 | HSD3B7 | c.323-3C>T (n.323-3C>T) c.446-3C>T (n.446-3C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986421A>C | CA395639781 | HSD3B7 | c.323-2A>C (n.323-2A>C) c.446-2A>C (n.446-2A>C) | |
| 16 | g.30986421A>G | CA395639783 | HSD3B7 | c.323-2A>G (n.323-2A>G) c.446-2A>G (n.446-2A>G) | |
| 16 | g.30986421A>T | CA395639785 | HSD3B7 | c.323-2A>T (n.323-2A>T) c.446-2A>T (n.446-2A>T) | |
| 16 | g.30986422_30986425dup | CA622171140 | HSD3B7 | c.323-1_325dup c.446-1_448dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986422G>A | CA395639790 | HSD3B7 | c.323-1G>A (n.323-1G>A) c.446-1G>A (n.446-1G>A) | gnomAD v4 |
| 16 | g.30986422G>C | CA395639786 | HSD3B7 | c.323-1G>C (n.323-1G>C) c.446-1G>C (n.446-1G>C) | gnomAD v4 |
| 16 | g.30986422G= | CA2216821708 | HSD3B7 | c.323-1G= (n.323-1G=) c.446-1G= (n.446-1G=) | |
| 16 | g.30986422G>T | CA395639788 | HSD3B7 | c.323-1G>T (n.323-1G>T) c.446-1G>T (n.446-1G>T) | dbSNP gnomAD v4 |
| 16 | g.30986423G>A | CA395639792 | HSD3B7 | c.323G>A (p.Gly108Asp) c.446G>A (p.Gly149Asp) | |
| 16 | g.30986423G>C | CA395639795 | HSD3B7 | c.323G>C (p.Gly108Ala) c.446G>C (p.Gly149Ala) | gnomAD v4 |
| 16 | g.30986423G= | CA2216821711 | HSD3B7 | c.323G= (p.Gly108=) c.446G= (p.Gly149=) | |
| 16 | g.30986423G>T | CA280561825 | HSD3B7 | c.323G>T (p.Gly108Val) c.446G>T (p.Gly149Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986424T>A | CA494920026 | HSD3B7 | c.324T>A (p.Gly108=) c.447T>A (p.Gly149=) | |
| 16 | g.30986424T>C | CA494920025 | HSD3B7 | c.324T>C (p.Gly108=) c.447T>C (p.Gly149=) | dbSNP |
| 16 | g.30986424T>G | CA494920024 | HSD3B7 | c.324T>G (p.Gly108=) c.447T>G (p.Gly149=) | |
| 16 | g.30986424T= | CA2216821712 | HSD3B7 | c.324T= (p.Gly108=) c.447T= (p.Gly149=) | |
| 16 | g.30986425A>C | CA395639798 | HSD3B7 | c.325A>C (p.Thr109Pro) c.448A>C (p.Thr150Pro) | |
| 16 | g.30986425A>G | CA395639800 | HSD3B7 | c.325A>G (p.Thr109Ala) c.448A>G (p.Thr150Ala) | |
| 16 | g.30986425A>T | CA395639802 | HSD3B7 | c.325A>T (p.Thr109Ser) c.448A>T (p.Thr150Ser) | |
| 16 | g.30986426C>A | CA395639804 | HSD3B7 | c.326C>A (p.Thr109Asn) c.449C>A (p.Thr150Asn) | |
| 16 | g.30986426C>G | CA395639806 | HSD3B7 | c.326C>G (p.Thr109Ser) c.449C>G (p.Thr150Ser) | |
| 16 | g.30986426C>T | CA395639807 | HSD3B7 | c.326C>T (p.Thr109Ile) c.449C>T (p.Thr150Ile) | |
| 16 | g.30986427C>A | CA494920027 | HSD3B7 | c.327C>A (p.Thr109=) c.450C>A (p.Thr150=) | gnomAD v4 |
| 16 | g.30986427C= | CA2216821715 | HSD3B7 | c.327C= (p.Thr109=) c.450C= (p.Thr150=) | |
| 16 | g.30986427C>G | CA494920028 | HSD3B7 | c.327C>G (p.Thr109=) c.450C>G (p.Thr150=) | |
| 16 | g.30986427C>T | CA494920029 | HSD3B7 | c.327C>T (p.Thr109=) c.450C>T (p.Thr150=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986428C>A | CA494920030 | HSD3B7 | c.328C>A (p.Arg110=) c.451C>A (p.Arg151=) | |
| 16 | g.30986428C= | CA2216821719 | HSD3B7 | c.328C= (p.Arg110=) c.451C= (p.Arg151=) | |
| 16 | g.30986428C>G | CA395639810 | HSD3B7 | c.328C>G (p.Arg110Gly) c.451C>G (p.Arg151Gly) | |
| 16 | g.30986428C>T | CA8017967 | HSD3B7 | c.328C>T (p.Arg110Trp) c.451C>T (p.Arg151Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986429G>A | CA8017968 | HSD3B7 | c.329G>A (p.Arg110Gln) c.452G>A (p.Arg151Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986429G>C | CA395639816 | HSD3B7 | c.329G>C (p.Arg110Pro) c.452G>C (p.Arg151Pro) | |
| 16 | g.30986429G= | CA2216821724 | HSD3B7 | c.329G= (p.Arg110=) c.452G= (p.Arg151=) | |
| 16 | g.30986429G>T | CA395639814 | HSD3B7 | c.329G>T (p.Arg110Leu) c.452G>T (p.Arg151Leu) | |
| 16 | g.30986430G>A | CA494920031 | HSD3B7 | c.330G>A (p.Arg110=) c.453G>A (p.Arg151=) | |
| 16 | g.30986430G>C | CA494920032 | HSD3B7 | c.330G>C (p.Arg110=) c.453G>C (p.Arg151=) | |
| 16 | g.30986430G>T | CA494920033 | HSD3B7 | c.330G>T (p.Arg110=) c.453G>T (p.Arg151=) | |
| 16 | g.30986431A= | CA2216821733 | HSD3B7 | c.331A= (p.Asn111=) c.454A= (p.Asn152=) | |
| 16 | g.30986431A>C | CA8017969 | HSD3B7 | c.331A>C (p.Asn111His) c.454A>C (p.Asn152His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986431A>G | CA395639820 | HSD3B7 | c.331A>G (p.Asn111Asp) c.454A>G (p.Asn152Asp) | |
| 16 | g.30986431A>T | CA395639821 | HSD3B7 | c.331A>T (p.Asn111Tyr) c.454A>T (p.Asn152Tyr) | |
| 16 | g.30986432A>C | CA395639822 | HSD3B7 | c.332A>C (p.Asn111Thr) c.455A>C (p.Asn152Thr) | |
| 16 | g.30986432A>G | CA395639824 | HSD3B7 | c.332A>G (p.Asn111Ser) c.455A>G (p.Asn152Ser) | |
| 16 | g.30986432A>T | CA395639826 | HSD3B7 | c.332A>T (p.Asn111Ile) c.455A>T (p.Asn152Ile) | |
| 16 | g.30986433C>A | CA395639828 | HSD3B7 | c.333C>A (p.Asn111Lys) c.456C>A (p.Asn152Lys) | gnomAD v4 |
| 16 | g.30986433C= | CA2216821741 | HSD3B7 | c.333C= (p.Asn111=) c.456C= (p.Asn152=) |