UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.30986414_30986416del | CA2632803468 | HSD3B7 | c.323-9_323-7del (n.323-9_323-7del) c.446-9_446-7del (n.446-9_446-7del) | gnomAD v4 |
| 16 | g.30986416C>A | CA2806494004 | HSD3B7 | c.323-7C>A (n.323-7C>A) c.446-7C>A (n.446-7C>A) | |
| 16 | g.30986416C= | CA2216821694 | HSD3B7 | c.323-7C= (n.323-7C=) c.446-7C= (n.446-7C=) | |
| 16 | g.30986416C>T | CA2216821695 | HSD3B7 | c.323-7C>T (n.323-7C>T) c.446-7C>T (n.446-7C>T) | dbSNP |
| 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>G | CA2806494005 | HSD3B7 | c.323-3C>G (n.323-3C>G) c.446-3C>G (n.446-3C>G) | |
| 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=) | |
| 16 | g.30986433C>G | CA395639830 | HSD3B7 | c.333C>G (p.Asn111Lys) c.456C>G (p.Asn152Lys) | dbSNP |
| 16 | g.30986433C>T | CA8017970 | HSD3B7 | c.333C>T (p.Asn111=) c.456C>T (p.Asn152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986434G>A | CA8017971 | HSD3B7 | c.334G>A (p.Val112Met) c.457G>A (p.Val153Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986434G>C | CA8017972 | HSD3B7 | c.334G>C (p.Val112Leu) c.457G>C (p.Val153Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986434G= | CA2216821747 | HSD3B7 | c.334G= (p.Val112=) c.457G= (p.Val153=) | |
| 16 | g.30986434G>T | CA395639834 | HSD3B7 | c.334G>T (p.Val112Leu) c.457G>T (p.Val153Leu) | |
| 16 | g.30986435T>A | CA395639839 | HSD3B7 | c.335T>A (p.Val112Glu) c.458T>A (p.Val153Glu) | |
| 16 | g.30986435T>C | CA395639841 | HSD3B7 | c.335T>C (p.Val112Ala) c.458T>C (p.Val153Ala) | gnomAD v4 |
| 16 | g.30986435T>G | CA395639837 | HSD3B7 | c.335T>G (p.Val112Gly) c.458T>G (p.Val153Gly) | |
| 16 | g.30986436G>A | CA494920034 | HSD3B7 | c.336G>A (p.Val112=) c.459G>A (p.Val153=) | |
| 16 | g.30986436G>C | CA494920035 | HSD3B7 | c.336G>C (p.Val112=) c.459G>C (p.Val153=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986436G= | CA2216821758 | HSD3B7 | c.336G= (p.Val112=) c.459G= (p.Val153=) | |
| 16 | g.30986436G>T | CA494920036 | HSD3B7 | c.336G>T (p.Val112=) c.459G>T (p.Val153=) | |
| 16 | g.30986437A>C | CA395639843 | HSD3B7 | c.337A>C (p.Ile113Leu) c.460A>C (p.Ile154Leu) | |
| 16 | g.30986437A>G | CA395639845 | HSD3B7 | c.337A>G (p.Ile113Val) c.460A>G (p.Ile154Val) | |
| 16 | g.30986437A>T | CA395639847 | HSD3B7 | c.337A>T (p.Ile113Phe) c.460A>T (p.Ile154Phe) | |
| 16 | g.30986438T>A | CA395639849 | HSD3B7 | c.338T>A (p.Ile113Asn) c.461T>A (p.Ile154Asn) | |
| 16 | g.30986438T>C | CA395639851 | HSD3B7 | c.338T>C (p.Ile113Thr) c.461T>C (p.Ile154Thr) | dbSNP COSMIC |
| 16 | g.30986438T>G | CA395639853 | HSD3B7 | c.338T>G (p.Ile113Ser) c.461T>G (p.Ile154Ser) | |
| 16 | g.30986438T= | CA2216821762 | HSD3B7 | c.338T= (p.Ile113=) c.461T= (p.Ile154=) | |
| 16 | g.30986439C>A | CA494920040 | HSD3B7 | c.339C>A (p.Ile113=) c.462C>A (p.Ile154=) | |
| 16 | g.30986439C= | CA2216821767 | HSD3B7 | c.339C= (p.Ile113=) c.462C= (p.Ile154=) | |
| 16 | g.30986439C>G | CA395639855 | HSD3B7 | c.339C>G (p.Ile113Met) c.462C>G (p.Ile154Met) | |
| 16 | g.30986439C>T | CA8017973 | HSD3B7 | c.339C>T (p.Ile113=) c.462C>T (p.Ile154=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986440G>A | CA280561851 | HSD3B7 | c.340G>A (p.Glu114Lys) c.463G>A (p.Glu155Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986440G>C | CA395639859 | HSD3B7 | c.340G>C (p.Glu114Gln) c.463G>C (p.Glu155Gln) | COSMIC |
| 16 | g.30986440G= | CA2216821773 | HSD3B7 | c.340G= (p.Glu114=) c.463G= (p.Glu155=) | |
| 16 | g.30986440G>T | CA395639862 | HSD3B7 | c.340G>T (p.Glu114Ter) c.463G>T (p.Glu155Ter) | |
| 16 | g.30986441A>C | CA395639864 | HSD3B7 | c.341A>C (p.Glu114Ala) c.464A>C (p.Glu155Ala) | |
| 16 | g.30986441A>G | CA395639866 | HSD3B7 | c.341A>G (p.Glu114Gly) c.464A>G (p.Glu155Gly) | |
| 16 | g.30986441A>T | CA395639867 | HSD3B7 | c.341A>T (p.Glu114Val) c.464A>T (p.Glu155Val) | |
| 16 | g.30986442G>A | CA494920041 | HSD3B7 | c.342G>A (p.Glu114=) c.465G>A (p.Glu155=) | |
| 16 | g.30986442G>C | CA395639870 | HSD3B7 | c.342G>C (p.Glu114Asp) c.465G>C (p.Glu155Asp) | |
| 16 | g.30986442G>T | CA395639869 | HSD3B7 | c.342G>T (p.Glu114Asp) c.465G>T (p.Glu155Asp) | |
| 16 | g.30986443G>A | CA395639872 | HSD3B7 | c.343G>A (p.Ala115Thr) c.466G>A (p.Ala156Thr) | |
| 16 | g.30986443G>C | CA395639875 | HSD3B7 | c.343G>C (p.Ala115Pro) c.466G>C (p.Ala156Pro) | |
| 16 | g.30986443G>T | CA395639874 | HSD3B7 | c.343G>T (p.Ala115Ser) c.466G>T (p.Ala156Ser) | gnomAD v4 |
| 16 | g.30986444C>A | CA395639876 | HSD3B7 | c.344C>A (p.Ala115Asp) c.467C>A (p.Ala156Asp) | gnomAD v4 |
| 16 | g.30986444C>G | CA395639878 | HSD3B7 | c.344C>G (p.Ala115Gly) c.467C>G (p.Ala156Gly) | |
| 16 | g.30986444C>T | CA395639880 | HSD3B7 | c.344C>T (p.Ala115Val) c.467C>T (p.Ala156Val) | |
| 16 | g.30986445T>A | CA494920042 | HSD3B7 | c.345T>A (p.Ala115=) c.468T>A (p.Ala156=) | |
| 16 | g.30986445T>C | CA494920044 | HSD3B7 | c.345T>C (p.Ala115=) c.468T>C (p.Ala156=) | COSMIC |
| 16 | g.30986445T>G | CA494920043 | HSD3B7 | c.345T>G (p.Ala115=) c.468T>G (p.Ala156=) | |
| 16 | g.30986446T>A | CA395639882 | HSD3B7 | c.346T>A (p.Cys116Ser) c.469T>A (p.Cys157Ser) | |
| 16 | g.30986446T>C | CA280561857 | HSD3B7 | c.346T>C (p.Cys116Arg) c.469T>C (p.Cys157Arg) | dbSNP |
| 16 | g.30986446T>G | CA395639885 | HSD3B7 | c.346T>G (p.Cys116Gly) c.469T>G (p.Cys157Gly) | |
| 16 | g.30986446T= | CA2216821774 | HSD3B7 | c.346T= (p.Cys116=) c.469T= (p.Cys157=) | |
| 16 | g.30986447G>A | CA395639887 | HSD3B7 | c.347G>A (p.Cys116Tyr) c.470G>A (p.Cys157Tyr) | dbSNP |
| 16 | g.30986447G>C | CA395639889 | HSD3B7 | c.347G>C (p.Cys116Ser) c.470G>C (p.Cys157Ser) | |
| 16 | g.30986447G= | CA2216821781 | HSD3B7 | c.347G= (p.Cys116=) c.470G= (p.Cys157=) | |
| 16 | g.30986447G>T | CA395639891 | HSD3B7 | c.347G>T (p.Cys116Phe) c.470G>T (p.Cys157Phe) | dbSNP gnomAD v2 |
| 16 | g.30986448T>A | CA395639893 | HSD3B7 | c.348T>A (p.Cys116Ter) c.471T>A (p.Cys157Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986448T>C | CA494920046 | HSD3B7 | c.348T>C (p.Cys116=) c.471T>C (p.Cys157=) | gnomAD v4 |
| 16 | g.30986448T>G | CA395639895 | HSD3B7 | c.348T>G (p.Cys116Trp) c.471T>G (p.Cys157Trp) | |
| 16 | g.30986448T= | CA2216821786 | HSD3B7 | c.348T= (p.Cys116=) c.471T= (p.Cys157=) | |
| 16 | g.30986449G>A | CA395639902 | HSD3B7 | c.349G>A (p.Val117Met) c.472G>A (p.Val158Met) | |
| 16 | g.30986449G>C | CA395639900 | HSD3B7 | c.349G>C (p.Val117Leu) c.472G>C (p.Val158Leu) | |
| 16 | g.30986449G>T | CA395639898 | HSD3B7 | c.349G>T (p.Val117Leu) c.472G>T (p.Val158Leu) | |
| 16 | g.30986450T>A | CA395639904 | HSD3B7 | c.350T>A (p.Val117Glu) c.473T>A (p.Val158Glu) | |
| 16 | g.30986450T>C | CA395639905 | HSD3B7 | c.350T>C (p.Val117Ala) c.473T>C (p.Val158Ala) | |
| 16 | g.30986450T>G | CA395639907 | HSD3B7 | c.350T>G (p.Val117Gly) c.473T>G (p.Val158Gly) | |
| 16 | g.30986451G>A | CA8017974 | HSD3B7 | c.351G>A (p.Val117=) c.474G>A (p.Val158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986451G>C | CA494920050 | HSD3B7 | c.351G>C (p.Val117=) c.474G>C (p.Val158=) | |
| 16 | g.30986451G= | CA2216821791 | HSD3B7 | c.351G= (p.Val117=) c.474G= (p.Val158=) | |
| 16 | g.30986451G>T | CA494920052 | HSD3B7 | c.351G>T (p.Val117=) c.474G>T (p.Val158=) | gnomAD v4 |
| 16 | g.30986452C>A | CA395639909 | HSD3B7 | c.352C>A (p.Gln118Lys) c.475C>A (p.Gln159Lys) | |
| 16 | g.30986452C>G | CA395639911 | HSD3B7 | c.352C>G (p.Gln118Glu) c.475C>G (p.Gln159Glu) | |
| 16 | g.30986452C>T | CA395639913 | HSD3B7 | c.352C>T (p.Gln118Ter) c.475C>T (p.Gln159Ter) | |
| 16 | g.30986453A>C | CA395639914 | HSD3B7 | c.353A>C (p.Gln118Pro) c.476A>C (p.Gln159Pro) | |
| 16 | g.30986453A>G | CA395639916 | HSD3B7 | c.353A>G (p.Gln118Arg) c.476A>G (p.Gln159Arg) | |
| 16 | g.30986453A>T | CA395639917 | HSD3B7 | c.353A>T (p.Gln118Leu) c.476A>T (p.Gln159Leu) | |
| 16 | g.30986454G>A | CA494920055 | HSD3B7 | c.354G>A (p.Gln118=) c.477G>A (p.Gln159=) | dbSNP |
| 16 | g.30986454G>C | CA395639918 | HSD3B7 | c.354G>C (p.Gln118His) c.477G>C (p.Gln159His) | |
| 16 | g.30986454G= | CA2216821799 | HSD3B7 | c.354G= (p.Gln118=) c.477G= (p.Gln159=) | |
| 16 | g.30986454G>T | CA395639921 | HSD3B7 | c.354G>T (p.Gln118His) c.477G>T (p.Gln159His) | gnomAD v4 |
| 16 | g.30986455A>C | CA395639925 | HSD3B7 | c.355A>C (p.Thr119Pro) c.478A>C (p.Thr160Pro) | |
| 16 | g.30986455A>G | CA395639926 | HSD3B7 | c.355A>G (p.Thr119Ala) c.478A>G (p.Thr160Ala) | |
| 16 | g.30986455A>T | CA395639923 | HSD3B7 | c.355A>T (p.Thr119Ser) c.478A>T (p.Thr160Ser) | |
| 16 | g.30986456C>A | CA395639928 | HSD3B7 | c.356C>A (p.Thr119Asn) c.479C>A (p.Thr160Asn) | |
| 16 | g.30986456C>G | CA395639930 | HSD3B7 | c.356C>G (p.Thr119Ser) c.479C>G (p.Thr160Ser) | |
| 16 | g.30986456C>T | CA395639931 | HSD3B7 | c.356C>T (p.Thr119Ile) c.479C>T (p.Thr160Ile) | gnomAD v4 |
| 16 | g.30986457C>A | CA494920059 | HSD3B7 | c.357C>A (p.Thr119=) c.480C>A (p.Thr160=) | |
| 16 | g.30986457C= | CA2216821814 | HSD3B7 | c.357C= (p.Thr119=) c.480C= (p.Thr160=) | |
| 16 | g.30986457C>G | CA8017976 | HSD3B7 | c.357C>G (p.Thr119=) c.480C>G (p.Thr160=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986457C>T | CA8017975 | HSD3B7 | c.357C>T (p.Thr119=) c.480C>T (p.Thr160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986458G>A | CA8017977 | HSD3B7 | c.358G>A (p.Gly120Arg) c.481G>A (p.Gly161Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986458G>C | CA395639939 | HSD3B7 | c.358G>C (p.Gly120Arg) c.481G>C (p.Gly161Arg) | |
| 16 | g.30986458G= | CA2216821828 | HSD3B7 | c.358G= (p.Gly120=) c.481G= (p.Gly161=) | |
| 16 | g.30986458G>T | CA395639938 | HSD3B7 | c.358G>T (p.Gly120Ter) c.481G>T (p.Gly161Ter) | |
| 16 | g.30986459G>A | CA395639943 | HSD3B7 | c.359G>A (p.Gly120Glu) c.482G>A (p.Gly161Glu) | gnomAD v4 COSMIC |
| 16 | g.30986459G>C | CA395639945 | HSD3B7 | c.359G>C (p.Gly120Ala) c.482G>C (p.Gly161Ala) | |
| 16 | g.30986459G>T | CA395639947 | HSD3B7 | c.359G>T (p.Gly120Val) c.482G>T (p.Gly161Val) | |
| 16 | g.30986460A>C | CA494920063 | HSD3B7 | c.360A>C (p.Gly120=) c.483A>C (p.Gly161=) | |
| 16 | g.30986460A>G | CA494920064 | HSD3B7 | c.360A>G (p.Gly120=) c.483A>G (p.Gly161=) | |
| 16 | g.30986460A>T | CA494920062 | HSD3B7 | c.360A>T (p.Gly120=) c.483A>T (p.Gly161=) | |
| 16 | g.30986461A>C | CA395639948 | HSD3B7 | c.361A>C (p.Thr121Pro) c.484A>C (p.Thr162Pro) | |
| 16 | g.30986461A>G | CA395639950 | HSD3B7 | c.361A>G (p.Thr121Ala) c.484A>G (p.Thr162Ala) | |
| 16 | g.30986461A>T | CA395639952 | HSD3B7 | c.361A>T (p.Thr121Ser) c.484A>T (p.Thr162Ser) | |
| 16 | g.30986462C>A | CA395639954 | HSD3B7 | c.362C>A (p.Thr121Lys) c.485C>A (p.Thr162Lys) | |
| 16 | g.30986462C>G | CA395639958 | HSD3B7 | c.362C>G (p.Thr121Arg) c.485C>G (p.Thr162Arg) | |
| 16 | g.30986462C>T | CA395639956 | HSD3B7 | c.362C>T (p.Thr121Ile) c.485C>T (p.Thr162Ile) | |
| 16 | g.30986463A>C | CA494920069 | HSD3B7 | c.363A>C (p.Thr121=) c.486A>C (p.Thr162=) | |
| 16 | g.30986463A>G | CA494920071 | HSD3B7 | c.363A>G (p.Thr121=) c.486A>G (p.Thr162=) | |
| 16 | g.30986463A>T | CA494920072 | HSD3B7 | c.363A>T (p.Thr121=) c.486A>T (p.Thr162=) | |
| 16 | g.30986464C>A | CA494920073 | HSD3B7 | c.364C>A (p.Arg122=) c.487C>A (p.Arg163=) | |
| 16 | g.30986464C= | CA2216821832 | HSD3B7 | c.364C= (p.Arg122=) c.487C= (p.Arg163=) | |
| 16 | g.30986464C>G | CA395639960 | HSD3B7 | c.364C>G (p.Arg122Gly) c.487C>G (p.Arg163Gly) | |
| 16 | g.30986464C>T | CA8017978 | HSD3B7 | c.364C>T (p.Arg122Trp) c.487C>T (p.Arg163Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986465G>A | CA8017979 | HSD3B7 | c.365G>A (p.Arg122Gln) c.488G>A (p.Arg163Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986465G>C | CA395639964 | HSD3B7 | c.365G>C (p.Arg122Pro) c.488G>C (p.Arg163Pro) | |
| 16 | g.30986465G= | CA2216821836 | HSD3B7 | c.365G= (p.Arg122=) c.488G= (p.Arg163=) | |
| 16 | g.30986465G>T | CA395639966 | HSD3B7 | c.365G>T (p.Arg122Leu) c.488G>T (p.Arg163Leu) | |
| 16 | g.30986466G>A | CA494920077 | HSD3B7 | c.366G>A (p.Arg122=) c.489G>A (p.Arg163=) | |
| 16 | g.30986466G>C | CA494920075 | HSD3B7 | c.366G>C (p.Arg122=) c.489G>C (p.Arg163=) | |
| 16 | g.30986466G= | CA2216821849 | HSD3B7 | c.366G= (p.Arg122=) c.489G= (p.Arg163=) | |
| 16 | g.30986466G>T | CA494920076 | HSD3B7 | c.366G>T (p.Arg122=) c.489G>T (p.Arg163=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986467T>A | CA395639968 | HSD3B7 | c.367T>A (p.Phe123Ile) c.490T>A (p.Phe164Ile) | |
| 16 | g.30986467T>C | CA8017980 | HSD3B7 | c.367T>C (p.Phe123Leu) c.490T>C (p.Phe164Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986467T>G | CA395639970 | HSD3B7 | c.367T>G (p.Phe123Val) c.490T>G (p.Phe164Val) | |
| 16 | g.30986467T= | CA2216821853 | HSD3B7 | c.367T= (p.Phe123=) c.490T= (p.Phe164=) | |
| 16 | g.30986468T>A | CA395639972 | HSD3B7 | c.368T>A (p.Phe123Tyr) c.491T>A (p.Phe164Tyr) | |
| 16 | g.30986468T>C | CA395639974 | HSD3B7 | c.368T>C (p.Phe123Ser) c.491T>C (p.Phe164Ser) | |
| 16 | g.30986468T>G | CA395639976 | HSD3B7 | c.368T>G (p.Phe123Cys) c.491T>G (p.Phe164Cys) | |
| 16 | g.30986469C>A | CA395639978 | HSD3B7 | c.369C>A (p.Phe123Leu) c.492C>A (p.Phe164Leu) | |
| 16 | g.30986469C= | CA2216821858 | HSD3B7 | c.369C= (p.Phe123=) c.492C= (p.Phe164=) | |
| 16 | g.30986469C>G | CA395639980 | HSD3B7 | c.369C>G (p.Phe123Leu) c.492C>G (p.Phe164Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986469C>T | CA494920081 | HSD3B7 | c.369C>T (p.Phe123=) c.492C>T (p.Phe164=) | |
| 16 | g.30986470C>A | CA395639982 | HSD3B7 | c.370C>A (p.Leu124Met) c.493C>A (p.Leu165Met) | COSMIC |
| 16 | g.30986470C>G | CA395639984 | HSD3B7 | c.370C>G (p.Leu124Val) c.493C>G (p.Leu165Val) | |
| 16 | g.30986470C>T | CA494920083 | HSD3B7 | c.370C>T (p.Leu124=) c.493C>T (p.Leu165=) | |
| 16 | g.30986471T>A | CA395639986 | HSD3B7 | c.371T>A (p.Leu124Gln) c.494T>A (p.Leu165Gln) | |
| 16 | g.30986471T>C | CA395639989 | HSD3B7 | c.371T>C (p.Leu124Pro) c.494T>C (p.Leu165Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986471T>G | CA395639988 | HSD3B7 | c.371T>G (p.Leu124Arg) c.494T>G (p.Leu165Arg) | |
| 16 | g.30986471T= | CA2216821865 | HSD3B7 | c.371T= (p.Leu124=) c.494T= (p.Leu165=) | |
| 16 | g.30986472G>A | CA494920087 | HSD3B7 | c.372G>A (p.Leu124=) c.495G>A (p.Leu165=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986472G>C | CA494920084 | HSD3B7 | c.372G>C (p.Leu124=) c.495G>C (p.Leu165=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986472G= | CA2216821874 | HSD3B7 | c.372G= (p.Leu124=) c.495G= (p.Leu165=) | |
| 16 | g.30986472G>T | CA494920086 | HSD3B7 | c.372G>T (p.Leu124=) c.495G>T (p.Leu165=) | |
| 16 | g.30986473del | CA2575973588 | HSD3B7 | c.373del (p.Val125SerfsTer?) c.496del (p.Val166SerfsTer?) | |
| 16 | g.30986473G>A | CA395639991 | HSD3B7 | c.373G>A (p.Val125Ile) c.496G>A (p.Val166Ile) | gnomAD v4 |
| 16 | g.30986473G>C | CA395639993 | HSD3B7 | c.373G>C (p.Val125Leu) c.496G>C (p.Val166Leu) | |
| 16 | g.30986473G>T | CA395639995 | HSD3B7 | c.373G>T (p.Val125Phe) c.496G>T (p.Val166Phe) | |
| 16 | g.30986474T>A | CA395639996 | HSD3B7 | c.374T>A (p.Val125Asp) c.497T>A (p.Val166Asp) | |
| 16 | g.30986474T>C | CA395639998 | HSD3B7 | c.374T>C (p.Val125Ala) c.497T>C (p.Val166Ala) | |
| 16 | g.30986474T>G | CA395640000 | HSD3B7 | c.374T>G (p.Val125Gly) c.497T>G (p.Val166Gly) | |
| 16 | g.30986475C>A | CA494920088 | HSD3B7 | c.375C>A (p.Val125=) c.498C>A (p.Val166=) | gnomAD v4 |
| 16 | g.30986475C= | CA2216821877 | HSD3B7 | c.375C= (p.Val125=) c.498C= (p.Val166=) | |
| 16 | g.30986475C>G | CA494920089 | HSD3B7 | c.375C>G (p.Val125=) c.498C>G (p.Val166=) | |
| 16 | g.30986475C>T | CA494920091 | HSD3B7 | c.375C>T (p.Val125=) c.498C>T (p.Val166=) | dbSNP gnomAD v4 |
| 16 | g.30986476T>A | CA395640002 | HSD3B7 | c.376T>A (p.Tyr126Asn) c.499T>A (p.Tyr167Asn) | |
| 16 | g.30986476T>C | CA395640004 | HSD3B7 | c.376T>C (p.Tyr126His) c.499T>C (p.Tyr167His) | |
| 16 | g.30986476T>G | CA395640006 | HSD3B7 | c.376T>G (p.Tyr126Asp) c.499T>G (p.Tyr167Asp) | |
| 16 | g.30986477A>C | CA395640008 | HSD3B7 | c.377A>C (p.Tyr126Ser) c.500A>C (p.Tyr167Ser) | |
| 16 | g.30986477A>G | CA395640009 | HSD3B7 | c.377A>G (p.Tyr126Cys) c.500A>G (p.Tyr167Cys) | |
| 16 | g.30986477A>T | CA395640011 | HSD3B7 | c.377A>T (p.Tyr126Phe) c.500A>T (p.Tyr167Phe) | |
| 16 | g.30986478C>A | CA395640015 | HSD3B7 | c.378C>A (p.Tyr126Ter) c.501C>A (p.Tyr167Ter) | |
| 16 | g.30986478C= | CA2216821881 | HSD3B7 | c.378C= (p.Tyr126=) c.501C= (p.Tyr167=) | |
| 16 | g.30986478C>G | CA395640013 | HSD3B7 | c.378C>G (p.Tyr126Ter) c.501C>G (p.Tyr167Ter) | |
| 16 | g.30986478C>T | CA494920094 | HSD3B7 | c.378C>T (p.Tyr126=) c.501C>T (p.Tyr167=) | dbSNP gnomAD v4 |
| 16 | g.30986479A>C | CA395640018 | HSD3B7 | c.379A>C (p.Thr127Pro) c.502A>C (p.Thr168Pro) | |
| 16 | g.30986479A>G | CA395640019 | HSD3B7 | c.379A>G (p.Thr127Ala) c.502A>G (p.Thr168Ala) | |
| 16 | g.30986479A>T | CA395640021 | HSD3B7 | c.379A>T (p.Thr127Ser) c.502A>T (p.Thr168Ser) | |
| 16 | g.30986480C>A | CA395640023 | HSD3B7 | c.380C>A (p.Thr127Asn) c.503C>A (p.Thr168Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986480C= | CA2216821887 | HSD3B7 | c.380C= (p.Thr127=) c.503C= (p.Thr168=) | |
| 16 | g.30986480C>G | CA395640024 | HSD3B7 | c.380C>G (p.Thr127Ser) c.503C>G (p.Thr168Ser) | gnomAD v4 |
| 16 | g.30986480C>T | CA395640026 | HSD3B7 | c.380C>T (p.Thr127Ile) c.503C>T (p.Thr168Ile) | |
| 16 | g.30986481C>A | CA494920097 | HSD3B7 | c.381C>A (p.Thr127=) c.504C>A (p.Thr168=) | |
| 16 | g.30986481C= | CA2216821891 | HSD3B7 | c.381C= (p.Thr127=) c.504C= (p.Thr168=) | |
| 16 | g.30986481C>G | CA494920098 | HSD3B7 | c.381C>G (p.Thr127=) c.504C>G (p.Thr168=) | gnomAD v4 |
| 16 | g.30986481C>T | CA280561909 | HSD3B7 | c.381C>T (p.Thr127=) c.504C>T (p.Thr168=) | dbSNP |
| 16 | g.30986482A= | CA2216821897 | HSD3B7 | c.382A= (p.Ser128=) c.505A= (p.Ser169=) | |
| 16 | g.30986482A>C | CA395640032 | HSD3B7 | c.382A>C (p.Ser128Arg) c.505A>C (p.Ser169Arg) | |
| 16 | g.30986482A>G | CA395640028 | HSD3B7 | c.382A>G (p.Ser128Gly) c.505A>G (p.Ser169Gly) | dbSNP |
| 16 | g.30986482A>T | CA395640030 | HSD3B7 | c.382A>T (p.Ser128Cys) c.505A>T (p.Ser169Cys) | |
| 16 | g.30986483G>A | CA8017981 | HSD3B7 | c.383G>A (p.Ser128Asn) c.506G>A (p.Ser169Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986483G>C | CA395640034 | HSD3B7 | c.383G>C (p.Ser128Thr) c.506G>C (p.Ser169Thr) | |
| 16 | g.30986483G= | CA2216821907 | HSD3B7 | c.383G= (p.Ser128=) c.506G= (p.Ser169=) | |
| 16 | g.30986483G>T | CA395640036 | HSD3B7 | c.383G>T (p.Ser128Ile) c.506G>T (p.Ser169Ile) | |
| 16 | g.30986484C>A | CA395640037 | HSD3B7 | c.384C>A (p.Ser128Arg) c.507C>A (p.Ser169Arg) | |
| 16 | g.30986484C>G | CA395640038 | HSD3B7 | c.384C>G (p.Ser128Arg) c.507C>G (p.Ser169Arg) | |
| 16 | g.30986484C>T | CA494920104 | HSD3B7 | c.384C>T (p.Ser128=) c.507C>T (p.Ser169=) | |
| 16 | g.30986485A= | CA2216821913 | HSD3B7 | c.385A= (p.Ser129=) c.508A= (p.Ser170=) | |
| 16 | g.30986485A>C | CA395640041 | HSD3B7 | c.385A>C (p.Ser129Arg) c.508A>C (p.Ser170Arg) | |
| 16 | g.30986485A>G | CA16607411 | HSD3B7 | c.385A>G (p.Ser129Gly) c.508A>G (p.Ser170Gly) | ClinVar dbSNP |
| 16 | g.30986485A>T | CA395640042 | HSD3B7 | c.385A>T (p.Ser129Cys) c.508A>T (p.Ser170Cys) | |
| 16 | g.30986486G>A | CA395640046 | HSD3B7 | c.386G>A (p.Ser129Asn) c.509G>A (p.Ser170Asn) | |
| 16 | g.30986486G>C | CA395640048 | HSD3B7 | c.386G>C (p.Ser129Thr) c.509G>C (p.Ser170Thr) | gnomAD v4 |
| 16 | g.30986486G>T | CA395640050 | HSD3B7 | c.386G>T (p.Ser129Ile) c.509G>T (p.Ser170Ile) | |
| 16 | g.30986487C>A | CA395640052 | HSD3B7 | c.387C>A (p.Ser129Arg) c.510C>A (p.Ser170Arg) | |
| 16 | g.30986487C= | CA2216821924 | HSD3B7 | c.387C= (p.Ser129=) c.510C= (p.Ser170=) | |
| 16 | g.30986487C>G | CA395640054 | HSD3B7 | c.387C>G (p.Ser129Arg) c.510C>G (p.Ser170Arg) | |
| 16 | g.30986487C>T | CA494920106 | HSD3B7 | c.387C>T (p.Ser129=) c.510C>T (p.Ser170=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986488A= | CA2216821932 | HSD3B7 | c.388A= (p.Met130=) c.511A= (p.Met171=) | |
| 16 | g.30986488A>C | CA395640060 | HSD3B7 | c.388A>C (p.Met130Leu) c.511A>C (p.Met171Leu) | |
| 16 | g.30986488A>G | CA395640058 | HSD3B7 | c.388A>G (p.Met130Val) c.511A>G (p.Met171Val) | ClinVar dbSNP gnomAD v4 |
| 16 | g.30986488A>T | CA395640056 | HSD3B7 | c.388A>T (p.Met130Leu) c.511A>T (p.Met171Leu) | |
| 16 | g.30986489T>A | CA395640062 | HSD3B7 | c.389T>A (p.Met130Lys) c.512T>A (p.Met171Lys) | |
| 16 | g.30986489T>C | CA395640064 | HSD3B7 | c.389T>C (p.Met130Thr) c.512T>C (p.Met171Thr) | |
| 16 | g.30986489T>G | CA395640066 | HSD3B7 | c.389T>G (p.Met130Arg) c.512T>G (p.Met171Arg) | |
| 16 | g.30986490G>A | CA395640068 | HSD3B7 | c.390G>A (p.Met130Ile) c.513G>A (p.Met171Ile) | |
| 16 | g.30986490G>C | CA395640070 | HSD3B7 | c.390G>C (p.Met130Ile) c.513G>C (p.Met171Ile) | dbSNP gnomAD v4 |
| 16 | g.30986490G= | CA2216821935 | HSD3B7 | c.390G= (p.Met130=) c.513G= (p.Met171=) | |
| 16 | g.30986490G>T | CA395640072 | HSD3B7 | c.390G>T (p.Met130Ile) c.513G>T (p.Met171Ile) | |
| 16 | g.30986491G>A | CA395640075 | HSD3B7 | c.391G>A (p.Glu131Lys) c.514G>A (p.Glu172Lys) | gnomAD v4 |
| 16 | g.30986491G>C | CA395640079 | HSD3B7 | c.391G>C (p.Glu131Gln) c.514G>C (p.Glu172Gln) | |
| 16 | g.30986491G>T | CA395640077 | HSD3B7 | c.391G>T (p.Glu131Ter) c.514G>T (p.Glu172Ter) | |
| 16 | g.30986492A>C | CA395640279 | HSD3B7 | c.392A>C (p.Glu131Ala) c.515A>C (p.Glu172Ala) | |
| 16 | g.30986492A>G | CA395640280 | HSD3B7 | c.392A>G (p.Glu131Gly) c.515A>G (p.Glu172Gly) | |
| 16 | g.30986492A>T | CA395640281 | HSD3B7 | c.392A>T (p.Glu131Val) c.515A>T (p.Glu172Val) | |
| 16 | g.30986493A>C | CA395640282 | HSD3B7 | c.393A>C (p.Glu131Asp) c.516A>C (p.Glu172Asp) | |
| 16 | g.30986493A>G | CA494920594 | HSD3B7 | c.393A>G (p.Glu131=) c.516A>G (p.Glu172=) | |
| 16 | g.30986493A>T | CA395640283 | HSD3B7 | c.393A>T (p.Glu131Asp) c.516A>T (p.Glu172Asp) | |
| 16 | g.30986494G>A | CA395640284 | HSD3B7 | c.394G>A (p.Val132Ile) c.517G>A (p.Val173Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986494G>C | CA395640285 | HSD3B7 | c.394G>C (p.Val132Leu) c.517G>C (p.Val173Leu) | |
| 16 | g.30986494G= | CA2216821940 | HSD3B7 | c.394G= (p.Val132=) c.517G= (p.Val173=) | |
| 16 | g.30986494G>T | CA395640286 | HSD3B7 | c.394G>T (p.Val132Phe) c.517G>T (p.Val173Phe) | |
| 16 | g.30986495T>A | CA395640287 | HSD3B7 | c.395T>A (p.Val132Asp) c.518T>A (p.Val173Asp) | |
| 16 | g.30986495T>C | CA395640288 | HSD3B7 | c.395T>C (p.Val132Ala) c.518T>C (p.Val173Ala) | |
| 16 | g.30986495T>G | CA395640289 | HSD3B7 | c.395T>G (p.Val132Gly) c.518T>G (p.Val173Gly) | |
| 16 | g.30986496T>A | CA494920600 | HSD3B7 | c.396T>A (p.Val132=) c.519T>A (p.Val173=) | |
| 16 | g.30986496T>C | CA494920601 | HSD3B7 | c.396T>C (p.Val132=) c.519T>C (p.Val173=) | |
| 16 | g.30986496T>G | CA494920603 | HSD3B7 | c.396T>G (p.Val132=) c.519T>G (p.Val173=) | |
| 16 | g.30986497G>A | CA395640290 | HSD3B7 | c.397G>A (p.Val133Met) c.520G>A (p.Val174Met) | ClinVar gnomAD v4 |
| 16 | g.30986497G>C | CA395640291 | HSD3B7 | c.397G>C (p.Val133Leu) c.520G>C (p.Val174Leu) | |
| 16 | g.30986497G= | CA2216821945 | HSD3B7 | c.397G= (p.Val133=) c.520G= (p.Val174=) | |
| 16 | g.30986497G>T | CA8017982 | HSD3B7 | c.397G>T (p.Val133Leu) c.520G>T (p.Val174Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986498T>A | CA395640292 | HSD3B7 | c.398T>A (p.Val133Glu) c.521T>A (p.Val174Glu) | |
| 16 | g.30986498T>C | CA395640294 | HSD3B7 | c.398T>C (p.Val133Ala) c.521T>C (p.Val174Ala) | |
| 16 | g.30986498T>G | CA395640293 | HSD3B7 | c.398T>G (p.Val133Gly) c.521T>G (p.Val174Gly) | |
| 16 | g.30986499G>A | CA494920608 | HSD3B7 | c.399G>A (p.Val133=) c.522G>A (p.Val174=) | |
| 16 | g.30986499G>C | CA494920609 | HSD3B7 | c.399G>C (p.Val133=) c.522G>C (p.Val174=) | |
| 16 | g.30986499G>T | CA494920610 | HSD3B7 | c.399G>T (p.Val133=) c.522G>T (p.Val174=) | |
| 16 | g.30986502dup | CA2695223277 | HSD3B7 | c.402dup (p.Pro135AlafsTer2) c.525dup (p.Pro176AlafsTer2) | |
| 16 | g.30986500G>A | CA280561913 | HSD3B7 | c.400G>A (p.Gly134Arg) c.523G>A (p.Gly175Arg) | dbSNP gnomAD v4 |
| 16 | g.30986500G>C | CA395640295 | HSD3B7 | c.400G>C (p.Gly134Arg) c.523G>C (p.Gly175Arg) | |
| 16 | g.30986500G= | CA2216821953 | HSD3B7 | c.400G= (p.Gly134=) c.523G= (p.Gly175=) | |
| 16 | g.30986500G>T | CA395640296 | HSD3B7 | c.400G>T (p.Gly134Trp) c.523G>T (p.Gly175Trp) | |
| 16 | g.30986501G>A | CA395640297 | HSD3B7 | c.401G>A (p.Gly134Glu) c.524G>A (p.Gly175Glu) | |
| 16 | g.30986501G>C | CA395640298 | HSD3B7 | c.401G>C (p.Gly134Ala) c.524G>C (p.Gly175Ala) | |
| 16 | g.30986501G>T | CA395640299 | HSD3B7 | c.401G>T (p.Gly134Val) c.524G>T (p.Gly175Val) | |
| 16 | g.30986502G>A | CA494920612 | HSD3B7 | c.402G>A (p.Gly134=) c.525G>A (p.Gly175=) | |
| 16 | g.30986502G>C | CA494920613 | HSD3B7 | c.402G>C (p.Gly134=) c.525G>C (p.Gly175=) | |
| 16 | g.30986502G>T | CA494920614 | HSD3B7 | c.402G>T (p.Gly134=) c.525G>T (p.Gly175=) | |
| 16 | g.30986503C>A | CA395640300 | HSD3B7 | c.403C>A (p.Pro135Thr) c.526C>A (p.Pro176Thr) | |
| 16 | g.30986503C>G | CA395640301 | HSD3B7 | c.403C>G (p.Pro135Ala) c.526C>G (p.Pro176Ala) | |
| 16 | g.30986503C>T | CA395640302 | HSD3B7 | c.403C>T (p.Pro135Ser) c.526C>T (p.Pro176Ser) | |
| 16 | g.30986504C>A | CA395640303 | HSD3B7 | c.404C>A (p.Pro135His) c.527C>A (p.Pro176His) | |
| 16 | g.30986504C>G | CA395640304 | HSD3B7 | c.404C>G (p.Pro135Arg) c.527C>G (p.Pro176Arg) | |
| 16 | g.30986504C>T | CA395640305 | HSD3B7 | c.404C>T (p.Pro135Leu) c.527C>T (p.Pro176Leu) | |
| 16 | g.30986505T>A | CA494920618 | HSD3B7 | c.405T>A (p.Pro135=) c.528T>A (p.Pro176=) | |
| 16 | g.30986505T>C | CA494920620 | HSD3B7 | c.405T>C (p.Pro135=) c.528T>C (p.Pro176=) | |
| 16 | g.30986505T>G | CA494920619 | HSD3B7 | c.405T>G (p.Pro135=) c.528T>G (p.Pro176=) | |
| 16 | g.30986506A>C | CA395640308 | HSD3B7 | c.406A>C (p.Asn136His) c.529A>C (p.Asn177His) | |
| 16 | g.30986506A>G | CA395640306 | HSD3B7 | c.406A>G (p.Asn136Asp) c.529A>G (p.Asn177Asp) | |
| 16 | g.30986506A>T | CA395640307 | HSD3B7 | c.406A>T (p.Asn136Tyr) c.529A>T (p.Asn177Tyr) | |
| 16 | g.30986507A= | CA2216821958 | HSD3B7 | c.407A= (p.Asn136=) c.530A= (p.Asn177=) | |
| 16 | g.30986507A>C | CA395640309 | HSD3B7 | c.407A>C (p.Asn136Thr) c.530A>C (p.Asn177Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986507A>G | CA395640310 | HSD3B7 | c.407A>G (p.Asn136Ser) c.530A>G (p.Asn177Ser) | |
| 16 | g.30986507A>T | CA395640311 | HSD3B7 | c.407A>T (p.Asn136Ile) c.530A>T (p.Asn177Ile) | |
| 16 | g.30986508C>A | CA395640312 | HSD3B7 | c.408C>A (p.Asn136Lys) c.531C>A (p.Asn177Lys) | |
| 16 | g.30986508C= | CA2216821963 | HSD3B7 | c.408C= (p.Asn136=) c.531C= (p.Asn177=) | |
| 16 | g.30986508C>G | CA395640313 | HSD3B7 | c.408C>G (p.Asn136Lys) c.531C>G (p.Asn177Lys) | |
| 16 | g.30986508C>T | CA494920625 | HSD3B7 | c.408C>T (p.Asn136=) c.531C>T (p.Asn177=) | dbSNP |
| 16 | g.30986509A>C | CA395640314 | HSD3B7 | c.409A>C (p.Thr137Pro) c.532A>C (p.Thr178Pro) | |
| 16 | g.30986509A>G | CA395640315 | HSD3B7 | c.409A>G (p.Thr137Ala) c.532A>G (p.Thr178Ala) | |
| 16 | g.30986509A>T | CA395640316 | HSD3B7 | c.409A>T (p.Thr137Ser) c.532A>T (p.Thr178Ser) | |
| 16 | g.30986510C>A | CA395640317 | HSD3B7 | c.410C>A (p.Thr137Asn) c.533C>A (p.Thr178Asn) | |
| 16 | g.30986510C= | CA2216821968 | HSD3B7 | c.410C= (p.Thr137=) c.533C= (p.Thr178=) | |
| 16 | g.30986510C>G | CA395640318 | HSD3B7 | c.410C>G (p.Thr137Ser) c.533C>G (p.Thr178Ser) | |
| 16 | g.30986510C>T | CA8017983 | HSD3B7 | c.410C>T (p.Thr137Ile) c.533C>T (p.Thr178Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986511C>A | CA494920627 | HSD3B7 | c.411C>A (p.Thr137=) c.534C>A (p.Thr178=) | gnomAD v4 |
| 16 | g.30986511C= | CA2216821974 | HSD3B7 | c.411C= (p.Thr137=) c.534C= (p.Thr178=) | |
| 16 | g.30986511C>G | CA494920628 | HSD3B7 | c.411C>G (p.Thr137=) c.534C>G (p.Thr178=) | gnomAD v4 |
| 16 | g.30986511C>T | CA494920629 | HSD3B7 | c.411C>T (p.Thr137=) c.534C>T (p.Thr178=) | |
| 16 | g.30986512A>C | CA395640321 | HSD3B7 | c.412A>C (p.Lys138Gln) c.535A>C (p.Lys179Gln) | |
| 16 | g.30986512A>G | CA395640320 | HSD3B7 | c.412A>G (p.Lys138Glu) c.535A>G (p.Lys179Glu) | |
| 16 | g.30986512A>T | CA395640319 | HSD3B7 | c.412A>T (p.Lys138Ter) c.535A>T (p.Lys179Ter) | |
| 16 | g.30986512_30986513insCCTTCTA | CA719897694 | HSD3B7 | c.412_413insCCTTCTA (p.Lys138ThrfsTer3) c.535_536insCCTTCTA (p.Lys179ThrfsTer3) | dbSNP |
| 16 | g.30986514del | CA2575973590 | HSD3B7 | c.414del (p.Gly139ValfsTer?) c.537del (p.Gly180ValfsTer?) | |
| 16 | g.30986513A= | CA2216821981 | HSD3B7 | c.413A= (p.Lys138=) c.536A= (p.Lys179=) | |
| 16 | g.30986513A>C | CA395640322 | HSD3B7 | c.413A>C (p.Lys138Thr) c.536A>C (p.Lys179Thr) | dbSNP |
| 16 | g.30986513A>G | CA395640323 | HSD3B7 | c.413A>G (p.Lys138Arg) c.536A>G (p.Lys179Arg) | |
| 16 | g.30986513A>T | CA395640325 | HSD3B7 | c.413A>T (p.Lys138Ile) c.536A>T (p.Lys179Ile) | |
| 16 | g.30986514A>C | CA395640327 | HSD3B7 | c.414A>C (p.Lys138Asn) c.537A>C (p.Lys179Asn) | |
| 16 | g.30986514A>G | CA494920633 | HSD3B7 | c.414A>G (p.Lys138=) c.537A>G (p.Lys179=) | |
| 16 | g.30986514A>T | CA395640328 | HSD3B7 | c.414A>T (p.Lys138Asn) c.537A>T (p.Lys179Asn) | |
| 16 | g.30986515G>A | CA8017984 | HSD3B7 | c.415G>A (p.Gly139Ser) c.538G>A (p.Gly180Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986515G>C | CA395640330 | HSD3B7 | c.415G>C (p.Gly139Arg) c.538G>C (p.Gly180Arg) | |
| 16 | g.30986515G= | CA2216821985 | HSD3B7 | c.415G= (p.Gly139=) c.538G= (p.Gly180=) | |
| 16 | g.30986515G>T | CA395640332 | HSD3B7 | c.415G>T (p.Gly139Cys) c.538G>T (p.Gly180Cys) | |
| 16 | g.30986516G>A | CA395640334 | HSD3B7 | c.416G>A (p.Gly139Asp) c.539G>A (p.Gly180Asp) | |
| 16 | g.30986516G>C | CA395640335 | HSD3B7 | c.416G>C (p.Gly139Ala) c.539G>C (p.Gly180Ala) | |
| 16 | g.30986516G>T | CA395640336 | HSD3B7 | c.416G>T (p.Gly139Val) c.539G>T (p.Gly180Val) |