| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.30986171A>C | CA395639583 | HSD3B7 | c.289A>C (p.Ser97Arg) c.412A>C (p.Ser138Arg) | |
| 16 | g.30986171A>G | CA395639581 | HSD3B7 | c.289A>G (p.Ser97Gly) c.412A>G (p.Ser138Gly) | gnomAD v4 |
| 16 | g.30986171A>T | CA395639579 | HSD3B7 | c.289A>T (p.Ser97Cys) c.412A>T (p.Ser138Cys) | |
| 16 | g.30986172G>A | CA395639584 | HSD3B7 | c.290G>A (p.Ser97Asn) c.413G>A (p.Ser138Asn) | |
| 16 | g.30986172G>C | CA395639587 | HSD3B7 | c.290G>C (p.Ser97Thr) c.413G>C (p.Ser138Thr) | |
| 16 | g.30986172G>T | CA395639589 | HSD3B7 | c.290G>T (p.Ser97Ile) c.413G>T (p.Ser138Ile) | |
| 16 | g.30986173T>A | CA395639590 | HSD3B7 | c.291T>A (p.Ser97Arg) c.414T>A (p.Ser138Arg) | |
| 16 | g.30986173T>C | CA494920778 | HSD3B7 | c.291T>C (p.Ser97=) c.414T>C (p.Ser138=) | |
| 16 | g.30986173T>G | CA395639592 | HSD3B7 | c.291T>G (p.Ser97Arg) c.414T>G (p.Ser138Arg) | |
| 16 | g.30986173T= | CA2216821152 | HSD3B7 | c.291T= (p.Ser97=) c.414T= (p.Ser138=) | |
| 16 | g.30986174C>A | CA395639598 | HSD3B7 | c.292C>A (p.Pro98Thr) c.415C>A (p.Pro139Thr) | |
| 16 | g.30986174C= | CA2216821159 | HSD3B7 | c.292C= (p.Pro98=) c.415C= (p.Pro139=) | |
| 16 | g.30986174C>G | CA280561605 | HSD3B7 | c.292C>G (p.Pro98Ala) c.415C>G (p.Pro139Ala) | dbSNP |
| 16 | g.30986174C>T | CA395639595 | HSD3B7 | c.292C>T (p.Pro98Ser) c.415C>T (p.Pro139Ser) | |
| 16 | g.30986176dup | CA115825 | HSD3B7 | c.294dup (p.Lys99GlnfsTer5) c.417dup (p.Lys140GlnfsTer5) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986175C>A | CA395639601 | HSD3B7 | c.293C>A (p.Pro98His) c.416C>A (p.Pro139His) | |
| 16 | g.30986175C= | CA2216821165 | HSD3B7 | c.293C= (p.Pro98=) c.416C= (p.Pro139=) | |
| 16 | g.30986175C>G | CA395639603 | HSD3B7 | c.293C>G (p.Pro98Arg) c.416C>G (p.Pro139Arg) | |
| 16 | g.30986175C>T | CA8017945 | HSD3B7 | c.293C>T (p.Pro98Leu) c.416C>T (p.Pro139Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986176C>A | CA494920781 | HSD3B7 | c.294C>A (p.Pro98=) c.417C>A (p.Pro139=) | |
| 16 | g.30986176C>G | CA494920780 | HSD3B7 | c.294C>G (p.Pro98=) c.417C>G (p.Pro139=) | |
| 16 | g.30986176C>T | CA494920783 | HSD3B7 | c.294C>T (p.Pro98=) c.417C>T (p.Pro139=) | |
| 16 | g.30986176_30986177delinsCA | CA2216821169 | HSD3B7 | c.294_295delinsCA (p.Pro98=) c.417_418delinsCA (p.Pro139=) | |
| 16 | g.30986177A>C | CA395639606 | HSD3B7 | c.295A>C (p.Lys99Gln) c.418A>C (p.Lys140Gln) | |
| 16 | g.30986177A>G | CA395639608 | HSD3B7 | c.295A>G (p.Lys99Glu) c.418A>G (p.Lys140Glu) | dbSNP |
| 16 | g.30986177A>T | CA395639609 | HSD3B7 | c.295A>T (p.Lys99Ter) c.418A>T (p.Lys140Ter) | |
| 16 | g.30986178del | CA2216821173 | HSD3B7 | c.296del (p.Lys99ArgfsTer14) c.419del (p.Lys140ArgfsTer14) | dbSNP gnomAD v4 |
| 16 | g.30986178A>C | CA395639610 | HSD3B7 | c.296A>C (p.Lys99Thr) c.419A>C (p.Lys140Thr) | |
| 16 | g.30986178A>G | CA395639614 | HSD3B7 | c.296A>G (p.Lys99Arg) c.419A>G (p.Lys140Arg) | |
| 16 | g.30986178A>T | CA395639612 | HSD3B7 | c.296A>T (p.Lys99Met) c.419A>T (p.Lys140Met) | |
| 16 | g.30986178_30986191delinsAGACCATCCATGAG | CA2216821176 | HSD3B7 | c.296_309delinsAGACCATCCATGAG (p.Lys99=) c.419_432delinsAGACCATCCATGAG (p.Lys140=) | |
| 16 | g.30986179G>A | CA494920784 | HSD3B7 | c.297G>A (p.Lys99=) c.420G>A (p.Lys140=) | |
| 16 | g.30986179G>C | CA395639616 | HSD3B7 | c.297G>C (p.Lys99Asn) c.420G>C (p.Lys140Asn) | |
| 16 | g.30986179G>T | CA395639618 | HSD3B7 | c.297G>T (p.Lys99Asn) c.420G>T (p.Lys140Asn) | |
| 16 | g.30986180_30986192del | CA622171165 | HSD3B7 | c.298_310del (p.Thr100SerfsTer9) c.421_433del (p.Thr141SerfsTer9) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986180del | CA2632803148 | HSD3B7 | c.298del (p.Thr100ProfsTer13) c.421del (p.Thr141ProfsTer13) | gnomAD v4 |
| 16 | g.30986180A= | CA2216821181 | HSD3B7 | c.298A= (p.Thr100=) c.421A= (p.Thr141=) | |
| 16 | g.30986180A>C | CA395639620 | HSD3B7 | c.298A>C (p.Thr100Pro) c.421A>C (p.Thr141Pro) | dbSNP |
| 16 | g.30986180A>G | CA395639622 | HSD3B7 | c.298A>G (p.Thr100Ala) c.421A>G (p.Thr141Ala) | |
| 16 | g.30986180A>T | CA395639625 | HSD3B7 | c.298A>T (p.Thr100Ser) c.421A>T (p.Thr141Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986180_30986184delinsACCAT | CA2216821182 | HSD3B7 | c.298_302delinsACCAT (p.Thr100=) c.421_425delinsACCAT (p.Thr141=) | |
| 16 | g.30986181C>A | CA395639627 | HSD3B7 | c.299C>A (p.Thr100Asn) c.422C>A (p.Thr141Asn) | |
| 16 | g.30986181C= | CA2216821186 | HSD3B7 | c.299C= (p.Thr100=) c.422C= (p.Thr141=) | |
| 16 | g.30986181C>G | CA395639629 | HSD3B7 | c.299C>G (p.Thr100Ser) c.422C>G (p.Thr141Ser) | |
| 16 | g.30986181C>T | CA395639631 | HSD3B7 | c.299C>T (p.Thr100Ile) c.422C>T (p.Thr141Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986185_30986188del | CA622171167 | HSD3B7 | c.303_306del (p.Ile101MetfsTer11) c.426_429del (p.Ile142MetfsTer11) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986182C>A | CA494920785 | HSD3B7 | c.300C>A (p.Thr100=) c.423C>A (p.Thr141=) | |
| 16 | g.30986182C>G | CA494920786 | HSD3B7 | c.300C>G (p.Thr100=) c.423C>G (p.Thr141=) | gnomAD v4 |
| 16 | g.30986182C>T | CA494920787 | HSD3B7 | c.300C>T (p.Thr100=) c.423C>T (p.Thr141=) | gnomAD v4 |
| 16 | g.30986183A>C | CA395639634 | HSD3B7 | c.301A>C (p.Ile101Leu) c.424A>C (p.Ile142Leu) | |
| 16 | g.30986183A>G | CA395639636 | HSD3B7 | c.301A>G (p.Ile101Val) c.424A>G (p.Ile142Val) | gnomAD v4 |
| 16 | g.30986183A>T | CA395639638 | HSD3B7 | c.301A>T (p.Ile101Phe) c.424A>T (p.Ile142Phe) | |
| 16 | g.30986184T>A | CA395639643 | HSD3B7 | c.302T>A (p.Ile101Asn) c.425T>A (p.Ile142Asn) | gnomAD v4 |
| 16 | g.30986184T>C | CA395639642 | HSD3B7 | c.302T>C (p.Ile101Thr) c.425T>C (p.Ile142Thr) | ClinVar dbSNP |
| 16 | g.30986184T>G | CA395639640 | HSD3B7 | c.302T>G (p.Ile101Ser) c.425T>G (p.Ile142Ser) | |
| 16 | g.30986184T= | CA2216821192 | HSD3B7 | c.302T= (p.Ile101=) c.425T= (p.Ile142=) | |
| 16 | g.30986185C>A | CA494920788 | HSD3B7 | c.303C>A (p.Ile101=) c.426C>A (p.Ile142=) | |
| 16 | g.30986185C= | CA2216821197 | HSD3B7 | c.303C= (p.Ile101=) c.426C= (p.Ile142=) | |
| 16 | g.30986185C>G | CA395639645 | HSD3B7 | c.303C>G (p.Ile101Met) c.426C>G (p.Ile142Met) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986185C>T | CA494920789 | HSD3B7 | c.303C>T (p.Ile101=) c.426C>T (p.Ile142=) | |
| 16 | g.30986186C>A | CA395639651 | HSD3B7 | c.304C>A (p.His102Asn) c.427C>A (p.His143Asn) | |
| 16 | g.30986186C= | CA2216821205 | HSD3B7 | c.304C= (p.His102=) c.427C= (p.His143=) | |
| 16 | g.30986186C>G | CA395639648 | HSD3B7 | c.304C>G (p.His102Asp) c.427C>G (p.His143Asp) | |
| 16 | g.30986186C>T | CA8017946 | HSD3B7 | c.304C>T (p.His102Tyr) c.427C>T (p.His143Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 16 | g.30986187A= | CA2216821212 | HSD3B7 | c.305A= (p.His102=) c.428A= (p.His143=) | |
| 16 | g.30986187A>C | CA395639652 | HSD3B7 | c.305A>C (p.His102Pro) c.428A>C (p.His143Pro) | |
| 16 | g.30986187A>G | CA395639654 | HSD3B7 | c.305A>G (p.His102Arg) c.428A>G (p.His143Arg) | dbSNP |
| 16 | g.30986187A>T | CA395639656 | HSD3B7 | c.305A>T (p.His102Leu) c.428A>T (p.His143Leu) | |
| 16 | g.30986188T>A | CA395639658 | HSD3B7 | c.306T>A (p.His102Gln) c.429T>A (p.His143Gln) | |
| 16 | g.30986188T>C | CA494920790 | HSD3B7 | c.306T>C (p.His102=) c.429T>C (p.His143=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986188T>G | CA395639660 | HSD3B7 | c.306T>G (p.His102Gln) c.429T>G (p.His143Gln) | gnomAD v4 |
| 16 | g.30986188T= | CA2216821214 | HSD3B7 | c.306T= (p.His102=) c.429T= (p.His143=) | |
| 16 | g.30986189G>A | CA280561612 | HSD3B7 | c.307G>A (p.Glu103Lys) c.430G>A (p.Glu144Lys) | dbSNP |
| 16 | g.30986189G>C | CA395639663 | HSD3B7 | c.307G>C (p.Glu103Gln) c.430G>C (p.Glu144Gln) | |
| 16 | g.30986189G= | CA2216821219 | HSD3B7 | c.307G= (p.Glu103=) c.430G= (p.Glu144=) | |
| 16 | g.30986189G>T | CA395639665 | HSD3B7 | c.307G>T (p.Glu103Ter) c.430G>T (p.Glu144Ter) | |
| 16 | g.30986190A= | CA2216821226 | HSD3B7 | c.308A= (p.Glu103=) c.431A= (p.Glu144=) | |
| 16 | g.30986190A>C | CA395639667 | HSD3B7 | c.308A>C (p.Glu103Ala) c.431A>C (p.Glu144Ala) | |
| 16 | g.30986190A>G | CA280561620 | HSD3B7 | c.308A>G (p.Glu103Gly) c.431A>G (p.Glu144Gly) | dbSNP |
| 16 | g.30986190A>T | CA395639670 | HSD3B7 | c.308A>T (p.Glu103Val) c.431A>T (p.Glu144Val) | dbSNP gnomAD v4 |
| 16 | g.30986191G>A | CA494920791 | HSD3B7 | c.309G>A (p.Glu103=) c.432G>A (p.Glu144=) | gnomAD v4 COSMIC COSMIC |
| 16 | g.30986191G>C | CA395639674 | HSD3B7 | c.309G>C (p.Glu103Asp) c.432G>C (p.Glu144Asp) | |
| 16 | g.30986191G= | CA2216821230 | HSD3B7 | c.309G= (p.Glu103=) c.432G= (p.Glu144=) | |
| 16 | g.30986191G>T | CA395639672 | HSD3B7 | c.309G>T (p.Glu103Asp) c.432G>T (p.Glu144Asp) | dbSNP |
| 16 | g.30986192G>A | CA395639677 | HSD3B7 | c.310G>A (p.Val104Ile) c.433G>A (p.Val145Ile) | dbSNP gnomAD v2 |
| 16 | g.30986192G>C | CA395639679 | HSD3B7 | c.310G>C (p.Val104Leu) c.433G>C (p.Val145Leu) | |
| 16 | g.30986192G= | CA2216821234 | HSD3B7 | c.310G= (p.Val104=) c.433G= (p.Val145=) | |
| 16 | g.30986192G>T | CA395639681 | HSD3B7 | c.310G>T (p.Val104Phe) c.433G>T (p.Val145Phe) | |
| 16 | g.30986193T>A | CA395639683 | HSD3B7 | c.311T>A (p.Val104Asp) c.434T>A (p.Val145Asp) | |
| 16 | g.30986193T>C | CA395639685 | HSD3B7 | c.311T>C (p.Val104Ala) c.434T>C (p.Val145Ala) | |
| 16 | g.30986193T>G | CA395639687 | HSD3B7 | c.311T>G (p.Val104Gly) c.434T>G (p.Val145Gly) | |
| 16 | g.30986194C>A | CA494920792 | HSD3B7 | c.312C>A (p.Val104=) c.435C>A (p.Val145=) | |
| 16 | g.30986194C>G | CA494920793 | HSD3B7 | c.312C>G (p.Val104=) c.435C>G (p.Val145=) | |
| 16 | g.30986194C>T | CA494920794 | HSD3B7 | c.312C>T (p.Val104=) c.435C>T (p.Val145=) | |
| 16 | g.30986195A>C | CA395639688 | HSD3B7 | c.313A>C (p.Asn105His) c.436A>C (p.Asn146His) | |
| 16 | g.30986195A>G | CA395639690 | HSD3B7 | c.313A>G (p.Asn105Asp) c.436A>G (p.Asn146Asp) | |
| 16 | g.30986195A>T | CA395639692 | HSD3B7 | c.313A>T (p.Asn105Tyr) c.436A>T (p.Asn146Tyr) | |
| 16 | g.30986196A= | CA2216821237 | HSD3B7 | c.314A= (p.Asn105=) c.437A= (p.Asn146=) | |
| 16 | g.30986196A>C | CA395639695 | HSD3B7 | c.314A>C (p.Asn105Thr) c.437A>C (p.Asn146Thr) | |
| 16 | g.30986196A>G | CA395639697 | HSD3B7 | c.314A>G (p.Asn105Ser) c.437A>G (p.Asn146Ser) | dbSNP |
| 16 | g.30986196A>T | CA395639699 | HSD3B7 | c.314A>T (p.Asn105Ile) c.437A>T (p.Asn146Ile) | |
| 16 | g.30986197C>A | CA395639704 | HSD3B7 | c.315C>A (p.Asn105Lys) c.438C>A (p.Asn146Lys) | |
| 16 | g.30986197C= | CA2216821241 | HSD3B7 | c.315C= (p.Asn105=) c.438C= (p.Asn146=) | |
| 16 | g.30986197C>G | CA395639702 | HSD3B7 | c.315C>G (p.Asn105Lys) c.438C>G (p.Asn146Lys) | |
| 16 | g.30986197C>T | CA8017947 | HSD3B7 | c.315C>T (p.Asn105=) c.438C>T (p.Asn146=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986198G>A | CA8017948 | HSD3B7 | c.316G>A (p.Val106Met) c.439G>A (p.Val147Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986198G>C | CA395639707 | HSD3B7 | c.316G>C (p.Val106Leu) c.439G>C (p.Val147Leu) | gnomAD v4 |
| 16 | g.30986198G= | CA2216821248 | HSD3B7 | c.316G= (p.Val106=) c.439G= (p.Val147=) | |
| 16 | g.30986198G>T | CA395639709 | HSD3B7 | c.316G>T (p.Val106Leu) c.439G>T (p.Val147Leu) | |
| 16 | g.30986199T>A | CA395639711 | HSD3B7 | c.317T>A (p.Val106Glu) c.440T>A (p.Val147Glu) | |
| 16 | g.30986199T>C | CA395639712 | HSD3B7 | c.317T>C (p.Val106Ala) c.440T>C (p.Val147Ala) | |
| 16 | g.30986199T>G | CA395639714 | HSD3B7 | c.317T>G (p.Val106Gly) c.440T>G (p.Val147Gly) | |
| 16 | g.30986200G>A | CA494920795 | HSD3B7 | c.318G>A (p.Val106=) c.441G>A (p.Val147=) | |
| 16 | g.30986200G>C | CA494920796 | HSD3B7 | c.318G>C (p.Val106=) c.441G>C (p.Val147=) | |
| 16 | g.30986200G>T | CA494920797 | HSD3B7 | c.318G>T (p.Val106=) c.441G>T (p.Val147=) | |
| 16 | g.30986201C>A | CA395639721 | HSD3B7 | c.319C>A (p.Gln107Lys) c.442C>A (p.Gln148Lys) | |
| 16 | g.30986201C= | CA2216821252 | HSD3B7 | c.319C= (p.Gln107=) c.442C= (p.Gln148=) | |
| 16 | g.30986201C>G | CA395639716 | HSD3B7 | c.319C>G (p.Gln107Glu) c.442C>G (p.Gln148Glu) | |
| 16 | g.30986201C>T | CA395639719 | HSD3B7 | c.319C>T (p.Gln107Ter) c.442C>T (p.Gln148Ter) | dbSNP gnomAD v4 |
| 16 | g.30986202A>C | CA395639722 | HSD3B7 | c.320A>C (p.Gln107Pro) c.443A>C (p.Gln148Pro) | |
| 16 | g.30986202A>G | CA395639724 | HSD3B7 | c.320A>G (p.Gln107Arg) c.443A>G (p.Gln148Arg) | |
| 16 | g.30986202A>T | CA395639725 | HSD3B7 | c.320A>T (p.Gln107Leu) c.443A>T (p.Gln148Leu) | |
| 16 | g.30986203G>A | CA494920798 | HSD3B7 | c.321G>A (p.Gln107=) c.444G>A (p.Gln148=) | |
| 16 | g.30986203G>C | CA395639728 | HSD3B7 | c.321G>C (p.Gln107His) c.444G>C (p.Gln148His) | |
| 16 | g.30986203G>T | CA395639730 | HSD3B7 | c.321G>T (p.Gln107His) c.444G>T (p.Gln148His) | gnomAD v4 |
| 16 | g.30986204G>A | CA395639732 | HSD3B7 | c.322G>A (p.Gly108Ser) c.445G>A (p.Gly149Ser) | gnomAD v4 |
| 16 | g.30986204G>C | CA395639735 | HSD3B7 | c.322G>C (p.Gly108Arg) c.445G>C (p.Gly149Arg) | |
| 16 | g.30986204G>T | CA395639734 | HSD3B7 | c.322G>T (p.Gly108Cys) c.445G>T (p.Gly149Cys) | |
| 16 | g.30986205G>A | CA395639737 | HSD3B7 | c.322+1G>A (n.322+1G>A) c.445+1G>A (n.445+1G>A) | gnomAD v4 |
| 16 | g.30986205G>C | CA395639739 | HSD3B7 | c.322+1G>C (n.322+1G>C) c.445+1G>C (n.445+1G>C) | |
| 16 | g.30986205G= | CA2216821253 | HSD3B7 | c.322+1G= (n.322+1G=) c.445+1G= (n.445+1G=) | |
| 16 | g.30986205G>T | CA115826 | HSD3B7 | c.322+1G>T (n.322+1G>T) c.445+1G>T (n.445+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986206T>A | CA395639742 | HSD3B7 | c.322+2T>A (n.322+2T>A) c.445+2T>A (n.445+2T>A) | |
| 16 | g.30986206T>C | CA395639744 | HSD3B7 | c.322+2T>C (n.322+2T>C) c.445+2T>C (n.445+2T>C) | |
| 16 | g.30986206T>G | CA395639750 | HSD3B7 | c.322+2T>G (n.322+2T>G) c.445+2T>G (n.445+2T>G) | |
| 16 | g.30986207G>A | CA494920800 | HSD3B7 | c.322+3G>A (n.322+3G>A) c.445+3G>A (n.445+3G>A) | gnomAD v4 |
| 16 | g.30986207G>C | CA494920801 | HSD3B7 | c.322+3G>C (n.322+3G>C) c.445+3G>C (n.445+3G>C) | |
| 16 | g.30986207G>T | CA494920799 | HSD3B7 | c.322+3G>T (n.322+3G>T) c.445+3G>T (n.445+3G>T) | |
| 16 | g.30986208A>C | CA494920802 | HSD3B7 | c.322+4A>C (n.322+4A>C) c.445+4A>C (n.445+4A>C) | |
| 16 | g.30986208A>G | CA494920803 | HSD3B7 | c.322+4A>G (n.322+4A>G) c.445+4A>G (n.445+4A>G) | gnomAD v4 |
| 16 | g.30986208A>T | CA494920804 | HSD3B7 | c.322+4A>T (n.322+4A>T) c.445+4A>T (n.445+4A>T) | |
| 16 | g.30986209G>A | CA494920805 | HSD3B7 | c.322+5G>A (n.322+5G>A) c.445+5G>A (n.445+5G>A) | dbSNP |
| 16 | g.30986209G>C | CA494920806 | HSD3B7 | c.322+5G>C (n.322+5G>C) c.445+5G>C (n.445+5G>C) | |
| 16 | g.30986209G= | CA2216821257 | HSD3B7 | c.322+5G= (n.322+5G=) c.445+5G= (n.445+5G=) | |
| 16 | g.30986209G>T | CA494920807 | HSD3B7 | c.322+5G>T (n.322+5G>T) c.445+5G>T (n.445+5G>T) | |
| 16 | g.30986210G>A | CA494920808 | HSD3B7 | c.322+6G>A (n.322+6G>A) c.445+6G>A (n.445+6G>A) | dbSNP gnomAD v4 |
| 16 | g.30986210G>C | CA494920809 | HSD3B7 | c.322+6G>C (n.322+6G>C) c.445+6G>C (n.445+6G>C) | |
| 16 | g.30986210G= | CA2216821259 | HSD3B7 | c.322+6G= (n.322+6G=) c.445+6G= (n.445+6G=) | |
| 16 | g.30986210G>T | CA494920810 | HSD3B7 | c.322+6G>T (n.322+6G>T) c.445+6G>T (n.445+6G>T) | |
| 16 | g.30986211A= | CA2216821262 | HSD3B7 | c.322+7A= (n.322+7A=) c.445+7A= (n.445+7A=) | |
| 16 | g.30986211A>C | CA494920811 | HSD3B7 | c.322+7A>C (n.322+7A>C) c.445+7A>C (n.445+7A>C) | |
| 16 | g.30986211A>G | CA8017949 | HSD3B7 | c.322+7A>G (n.322+7A>G) c.445+7A>G (n.445+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986211A>T | CA494920812 | HSD3B7 | c.322+7A>T (n.322+7A>T) c.445+7A>T (n.445+7A>T) | |
| 16 | g.30986212G>A | CA494920814 | HSD3B7 | c.322+8G>A (n.322+8G>A) c.445+8G>A (n.445+8G>A) | |
| 16 | g.30986212G>C | CA494920815 | HSD3B7 | c.322+8G>C (n.322+8G>C) c.445+8G>C (n.445+8G>C) | dbSNP |
| 16 | g.30986212G>T | CA494920813 | HSD3B7 | c.322+8G>T (n.322+8G>T) c.445+8G>T (n.445+8G>T) | |
| 16 | g.30986215C= | CA2216821265 | HSD3B7 | c.322+11C= (n.322+11C=) c.445+11C= (n.445+11C=) | |
| 16 | g.30986215C>G | CA719897398 | HSD3B7 | c.322+11C>G (n.322+11C>G) c.445+11C>G (n.445+11C>G) | dbSNP gnomAD v4 |
| 16 | g.30986217G>A | CA2632803164 | HSD3B7 | c.322+13G>A (n.322+13G>A) c.445+13G>A (n.445+13G>A) | gnomAD v4 |
| 16 | g.30986219A= | CA2216821269 | HSD3B7 | c.322+15A= (n.322+15A=) c.445+15A= (n.445+15A=) | |
| 16 | g.30986219A>C | CA2216821270 | HSD3B7 | c.322+15A>C (n.322+15A>C) c.445+15A>C (n.445+15A>C) | dbSNP |
| 16 | g.30986219A>T | CA2632803166 | HSD3B7 | c.322+15A>T (n.322+15A>T) c.445+15A>T (n.445+15A>T) | gnomAD v4 |
| 16 | g.30986220C= | CA2216821277 | HSD3B7 | c.322+16C= (n.322+16C=) c.445+16C= (n.445+16C=) | |
| 16 | g.30986220C>T | CA622171170 | HSD3B7 | c.322+16C>T (n.322+16C>T) c.445+16C>T (n.445+16C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986221A= | CA2216821283 | HSD3B7 | c.322+17A= (n.322+17A=) c.445+17A= (n.445+17A=) | |
| 16 | g.30986221A>C | CA8017950 | HSD3B7 | c.322+17A>C (n.322+17A>C) c.445+17A>C (n.445+17A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986221A>G | CA280561652 | HSD3B7 | c.322+17A>G (n.322+17A>G) c.445+17A>G (n.445+17A>G) | dbSNP |
| 16 | g.30986222C= | CA2216821293 | HSD3B7 | c.322+18C= (n.322+18C=) c.445+18C= (n.445+18C=) | |
| 16 | g.30986222C>G | CA2632803169 | HSD3B7 | c.322+18C>G (n.322+18C>G) c.445+18C>G (n.445+18C>G) | gnomAD v4 |
| 16 | g.30986222C>T | CA8017951 | HSD3B7 | c.322+18C>T (n.322+18C>T) c.445+18C>T (n.445+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986224_30986226dup | CA622171171 | HSD3B7 | c.322+20_322+22dup (n.322+20_322+22dup) c.445+20_445+22dup (n.445+20_445+22dup) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986224C>G | CA2632803170 | HSD3B7 | c.322+20C>G (n.322+20C>G) c.445+20C>G (n.445+20C>G) | gnomAD v4 |
| 16 | g.30986227G>A | CA622171172 | HSD3B7 | c.322+23G>A (n.322+23G>A) c.445+23G>A (n.445+23G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986227G= | CA2216821295 | HSD3B7 | c.322+23G= (n.322+23G=) c.445+23G= (n.445+23G=) | |
| 16 | g.30986228G>A | CA622171173 | HSD3B7 | c.322+24G>A (n.322+24G>A) c.445+24G>A (n.445+24G>A) | dbSNP gnomAD v2 |
| 16 | g.30986228G= | CA2216821298 | HSD3B7 | c.322+24G= (n.322+24G=) c.445+24G= (n.445+24G=) | |
| 16 | g.30986229C>A | CA2575973566 | HSD3B7 | c.322+25C>A (n.322+25C>A) c.445+25C>A (n.445+25C>A) | |
| 16 | g.30986230C>A | CA2632803171 | HSD3B7 | c.322+26C>A (n.322+26C>A) c.445+26C>A (n.445+26C>A) | gnomAD v4 |
| 16 | g.30986230C= | CA2216821302 | HSD3B7 | c.322+26C= (n.322+26C=) c.445+26C= (n.445+26C=) | |
| 16 | g.30986230C>T | CA622171174 | HSD3B7 | c.322+26C>T (n.322+26C>T) c.445+26C>T (n.445+26C>T) | dbSNP gnomAD v2 |
| 16 | g.30986231A= | CA2216821303 | HSD3B7 | c.322+27A= (n.322+27A=) c.445+27A= (n.445+27A=) | |
| 16 | g.30986231A>T | CA622171175 | HSD3B7 | c.322+27A>T (n.322+27A>T) c.445+27A>T (n.445+27A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986232T>C | CA622171177 | HSD3B7 | c.322+28T>C (n.322+28T>C) c.445+28T>C (n.445+28T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986232T= | CA2216821306 | HSD3B7 | c.322+28T= (n.322+28T=) c.445+28T= (n.445+28T=) | |
| 16 | g.30986233C= | CA2216821313 | HSD3B7 | c.322+29C= (n.322+29C=) c.445+29C= (n.445+29C=) | |
| 16 | g.30986233C>T | CA622171178 | HSD3B7 | c.322+29C>T (n.322+29C>T) c.445+29C>T (n.445+29C>T) | dbSNP gnomAD v2 |
| 16 | g.30986234T>C | CA2632803172 | HSD3B7 | c.322+30T>C (n.322+30T>C) c.445+30T>C (n.445+30T>C) | gnomAD v4 |
| 16 | g.30986236G>C | CA8017952 | HSD3B7 | c.322+32G>C (n.322+32G>C) c.445+32G>C (n.445+32G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986236G= | CA2216821340 | HSD3B7 | c.322+32G= (n.322+32G=) c.445+32G= (n.445+32G=) | |
| 16 | g.30986236G>T | CA2632803173 | HSD3B7 | c.322+32G>T (n.322+32G>T) c.445+32G>T (n.445+32G>T) | gnomAD v4 |
| 16 | g.30986237C= | CA2216821343 | HSD3B7 | c.322+33C= (n.322+33C=) c.445+33C= (n.445+33C=) | |
| 16 | g.30986237C>T | CA622171121 | HSD3B7 | c.322+33C>T (n.322+33C>T) c.445+33C>T (n.445+33C>T) | dbSNP gnomAD v2 |
| 16 | g.30986238C>A | CA2575973567 | HSD3B7 | c.322+34C>A (n.322+34C>A) c.445+34C>A (n.445+34C>A) | |
| 16 | g.30986238C= | CA2216821351 | HSD3B7 | c.322+34C= (n.322+34C=) c.445+34C= (n.445+34C=) | |
| 16 | g.30986238C>T | CA8017953 | HSD3B7 | c.322+34C>T (n.322+34C>T) c.445+34C>T (n.445+34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986238_30986242dup | CA719897445 | HSD3B7 | c.322+34_322+38dup (n.322+34_322+38dup) c.445+34_445+38dup (n.445+34_445+38dup) | dbSNP gnomAD v4 |
| 16 | g.30986243_30986246del | CA622171122 | HSD3B7 | c.322+39_322+42del (n.322+39_322+42del) c.445+39_445+42del (n.445+39_445+42del) | gnomAD v2 gnomAD v4 |
| 16 | g.30986240G>C | CA622171123 | HSD3B7 | c.322+36G>C (n.322+36G>C) c.445+36G>C (n.445+36G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986240G= | CA2216821353 | HSD3B7 | c.322+36G= (n.322+36G=) c.445+36G= (n.445+36G=) | |
| 16 | g.30986240G>T | CA2632803179 | HSD3B7 | c.322+36G>T (n.322+36G>T) c.445+36G>T (n.445+36G>T) | gnomAD v4 |
| 16 | g.30986241T>A | CA2216821357 | HSD3B7 | c.322+37T>A (n.322+37T>A) c.445+37T>A (n.445+37T>A) | dbSNP gnomAD v4 |
| 16 | g.30986241T= | CA2216821356 | HSD3B7 | c.322+37T= (n.322+37T=) c.445+37T= (n.445+37T=) | |
| 16 | g.30986244G>A | CA2216821363 | HSD3B7 | c.322+40G>A (n.322+40G>A) c.445+40G>A (n.445+40G>A) | dbSNP gnomAD v4 |
| 16 | g.30986244G= | CA2216821361 | HSD3B7 | c.322+40G= (n.322+40G=) c.445+40G= (n.445+40G=) | |
| 16 | g.30986247C= | CA2216821366 | HSD3B7 | c.322+43C= (n.322+43C=) c.445+43C= (n.445+43C=) | |
| 16 | g.30986247C>T | CA719897451 | HSD3B7 | c.322+43C>T (n.322+43C>T) c.445+43C>T (n.445+43C>T) | dbSNP gnomAD v4 |
| 16 | g.30986250dup | CA2732097950 | HSD3B7 | c.322+46dup (n.322+46dup) c.445+46dup (n.445+46dup) | dbSNP |
| 16 | g.30986248C= | CA2216821369 | HSD3B7 | c.322+44C= (n.322+44C=) c.445+44C= (n.445+44C=) | |
| 16 | g.30986248C>T | CA8017954 | HSD3B7 | c.322+44C>T (n.322+44C>T) c.445+44C>T (n.445+44C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986249C>A | CA2521001430 | HSD3B7 | c.322+45C>A (n.322+45C>A) c.445+45C>A (n.445+45C>A) | gnomAD v4 |
| 16 | g.30986249C>G | CA2632803185 | HSD3B7 | c.322+45C>G (n.322+45C>G) c.445+45C>G (n.445+45C>G) | gnomAD v4 |
| 16 | g.30986250C= | CA2216821377 | HSD3B7 | c.322+46C= (n.322+46C=) c.445+46C= (n.445+46C=) | |
| 16 | g.30986250C>T | CA8017955 | HSD3B7 | c.322+46C>T (n.322+46C>T) c.445+46C>T (n.445+46C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986251A>G | CA2632803192 | HSD3B7 | c.322+47A>G (n.322+47A>G) c.445+47A>G (n.445+47A>G) | gnomAD v4 |
| 16 | g.30986251A>T | CA2575973568 | HSD3B7 | c.322+47A>T (n.322+47A>T) c.445+47A>T (n.445+47A>T) | |
| 16 | g.30986252C= | CA2216821378 | HSD3B7 | c.322+48C= (n.322+48C=) c.445+48C= (n.445+48C=) | |
| 16 | g.30986252C>G | CA2216821379 | HSD3B7 | c.322+48C>G (n.322+48C>G) c.445+48C>G (n.445+48C>G) | dbSNP |
| 16 | g.30986254_30986255del | CA2632803194 | HSD3B7 | c.322+50_322+51del (n.322+50_322+51del) c.445+50_445+51del (n.445+50_445+51del) | gnomAD v4 |
| 16 | g.30986253T>C | CA2632803196 | HSD3B7 | c.322+49T>C (n.322+49T>C) c.445+49T>C (n.445+49T>C) | gnomAD v4 |
| 16 | g.30986253T>G | CA2632803198 | HSD3B7 | c.322+49T>G (n.322+49T>G) c.445+49T>G (n.445+49T>G) | gnomAD v4 |
| 16 | g.30986254C>A | CA2632803200 | HSD3B7 | c.322+50C>A (n.322+50C>A) c.445+50C>A (n.445+50C>A) | gnomAD v4 |
| 16 | g.30986254_30986260delinsCTGTCTT | CA2216821381 | HSD3B7 | c.322+50_322+56delinsCTGTCTT (n.322+50_322+56delinsCTGTCTT) c.445+50_445+56delinsCTGTCTT (n.445+50_445+56delinsCTGTCTT) | |
| 16 | g.30986257_30986262del | CA976326816 | HSD3B7 | c.322+53_322+58del (n.322+53_322+58del) c.445+53_445+58del (n.445+53_445+58del) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986258C>A | CA2632803203 | HSD3B7 | c.322+54C>A (n.322+54C>A) c.445+54C>A (n.445+54C>A) | gnomAD v4 |
| 16 | g.30986258C= | CA2216821383 | HSD3B7 | c.322+54C= (n.322+54C=) c.445+54C= (n.445+54C=) | |
| 16 | g.30986258C>T | CA2216821384 | HSD3B7 | c.322+54C>T (n.322+54C>T) c.445+54C>T (n.445+54C>T) | dbSNP |
| 16 | g.30986260T>A | CA8017956 | HSD3B7 | c.322+56T>A (n.322+56T>A) c.445+56T>A (n.445+56T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986260T= | CA2216821386 | HSD3B7 | c.322+56T= (n.322+56T=) c.445+56T= (n.445+56T=) | |
| 16 | g.30986262G>A | CA719897457 | HSD3B7 | c.322+58G>A (n.322+58G>A) c.445+58G>A (n.445+58G>A) | dbSNP |
| 16 | g.30986262G= | CA2216821388 | HSD3B7 | c.322+58G= (n.322+58G=) c.445+58G= (n.445+58G=) | |
| 16 | g.30986263G>T | CA2632803208 | HSD3B7 | c.322+59G>T (n.322+59G>T) c.445+59G>T (n.445+59G>T) | gnomAD v4 |
| 16 | g.30986264C>T | CA2632803209 | HSD3B7 | c.322+60C>T (n.322+60C>T) c.445+60C>T (n.445+60C>T) | gnomAD v4 |
| 16 | g.30986265C= | CA2216821391 | HSD3B7 | c.322+61C= (n.322+61C=) c.445+61C= (n.445+61C=) | |
| 16 | g.30986265C>G | CA280561705 | HSD3B7 | c.322+61C>G (n.322+61C>G) c.445+61C>G (n.445+61C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986265C>T | CA2632803214 | HSD3B7 | c.322+61C>T (n.322+61C>T) c.445+61C>T (n.445+61C>T) | gnomAD v4 |
| 16 | g.30986268G>A | CA2632803218 | HSD3B7 | c.322+64G>A (n.322+64G>A) c.445+64G>A (n.445+64G>A) | gnomAD v4 |
| 16 | g.30986269A= | CA2216821395 | HSD3B7 | c.322+65A= (n.322+65A=) c.445+65A= (n.445+65A=) | |
| 16 | g.30986269A>C | CA2216821397 | HSD3B7 | c.322+65A>C (n.322+65A>C) c.445+65A>C (n.445+65A>C) | dbSNP |
| 16 | g.30986269A>G | CA2575973569 | HSD3B7 | c.322+65A>G (n.322+65A>G) c.445+65A>G (n.445+65A>G) | |
| 16 | g.30986270C>A | CA2632803220 | HSD3B7 | c.322+66C>A (n.322+66C>A) c.445+66C>A (n.445+66C>A) | gnomAD v4 |
| 16 | g.30986270C= | CA2216821400 | HSD3B7 | c.322+66C= (n.322+66C=) c.445+66C= (n.445+66C=) | |
| 16 | g.30986270C>G | CA2575973570 | HSD3B7 | c.322+66C>G (n.322+66C>G) c.445+66C>G (n.445+66C>G) | gnomAD v4 |
| 16 | g.30986270C>T | CA622171124 | HSD3B7 | c.322+66C>T (n.322+66C>T) c.445+66C>T (n.445+66C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986271C>A | CA2575973571 | HSD3B7 | c.322+67C>A (n.322+67C>A) c.445+67C>A (n.445+67C>A) | gnomAD v4 |
| 16 | g.30986271C>G | CA2632803227 | HSD3B7 | c.322+67C>G (n.322+67C>G) c.445+67C>G (n.445+67C>G) | gnomAD v4 |
| 16 | g.30986271C>T | CA2570055256 | HSD3B7 | c.322+67C>T (n.322+67C>T) c.445+67C>T (n.445+67C>T) | gnomAD v4 |