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.30986604_30986632delinsGGGGCAACGAAGACACCCCATACGAAGCA | CA2216822154 | HSD3B7 | c.432-1_459delinsGGGGCAACGAAGACACCCCATACGAAGCA c.555-1_582delinsGGGGCAACGAAGACACCCCATACGAAGCA | |
| 16 | g.30986606_30986633del | CA8017997 | HSD3B7 | c.433_460del (p.Gly145CysfsTer?) c.556_583del (p.Gly186CysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986622C>A | CA395640514 | HSD3B7 | c.449C>A (p.Pro150Gln) c.572C>A (p.Pro191Gln) | |
| 16 | g.30986622C= | CA2216822215 | HSD3B7 | c.449C= (p.Pro150=) c.572C= (p.Pro191=) | |
| 16 | g.30986622C>G | CA395640516 | HSD3B7 | c.449C>G (p.Pro150Arg) c.572C>G (p.Pro191Arg) | gnomAD v4 |
| 16 | g.30986622C>T | CA395640518 | HSD3B7 | c.449C>T (p.Pro150Leu) c.572C>T (p.Pro191Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986623A>C | CA494920676 | HSD3B7 | c.450A>C (p.Pro150=) c.573A>C (p.Pro191=) | |
| 16 | g.30986623A>G | CA494920677 | HSD3B7 | c.450A>G (p.Pro150=) c.573A>G (p.Pro191=) | gnomAD v4 |
| 16 | g.30986623A>T | CA494920678 | HSD3B7 | c.450A>T (p.Pro150=) c.573A>T (p.Pro191=) | |
| 16 | g.30986624T>A | CA395640520 | HSD3B7 | c.451T>A (p.Tyr151Asn) c.574T>A (p.Tyr192Asn) | |
| 16 | g.30986624T>C | CA395640522 | HSD3B7 | c.451T>C (p.Tyr151His) c.574T>C (p.Tyr192His) | dbSNP gnomAD v4 |
| 16 | g.30986624T>G | CA395640524 | HSD3B7 | c.451T>G (p.Tyr151Asp) c.574T>G (p.Tyr192Asp) | |
| 16 | g.30986624T= | CA2216822220 | HSD3B7 | c.451T= (p.Tyr151=) c.574T= (p.Tyr192=) | |
| 16 | g.30986625A>C | CA395640526 | HSD3B7 | c.452A>C (p.Tyr151Ser) c.575A>C (p.Tyr192Ser) | |
| 16 | g.30986625A>G | CA395640528 | HSD3B7 | c.452A>G (p.Tyr151Cys) c.575A>G (p.Tyr192Cys) | |
| 16 | g.30986625A>T | CA395640530 | HSD3B7 | c.452A>T (p.Tyr151Phe) c.575A>T (p.Tyr192Phe) | |
| 16 | g.30986625_30986626delinsAC | CA2216822227 | HSD3B7 | c.452_453delinsAC (p.Tyr151=) c.575_576delinsAC (p.Tyr192=) | |
| 16 | g.30986626del | CA913190930 | HSD3B7 | c.453del (p.Tyr151Ter) c.576del (p.Tyr192Ter) | ClinVar dbSNP |
| 16 | g.30986626C>A | CA395640535 | HSD3B7 | c.453C>A (p.Tyr151Ter) c.576C>A (p.Tyr192Ter) | gnomAD v4 |
| 16 | g.30986626C= | CA2216822235 | HSD3B7 | c.453C= (p.Tyr151=) c.576C= (p.Tyr192=) | |
| 16 | g.30986626C>G | CA395640533 | HSD3B7 | c.453C>G (p.Tyr151Ter) c.576C>G (p.Tyr192Ter) | |
| 16 | g.30986626C>T | CA8018000 | HSD3B7 | c.453C>T (p.Tyr151=) c.576C>T (p.Tyr192=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986627G>A | CA8018001 | HSD3B7 | c.454G>A (p.Glu152Lys) c.577G>A (p.Glu193Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986627G>C | CA395640539 | HSD3B7 | c.454G>C (p.Glu152Gln) c.577G>C (p.Glu193Gln) | |
| 16 | g.30986627G= | CA2216822248 | HSD3B7 | c.454G= (p.Glu152=) c.577G= (p.Glu193=) | |
| 16 | g.30986627G>T | CA395640541 | HSD3B7 | c.454G>T (p.Glu152Ter) c.577G>T (p.Glu193Ter) | COSMIC |
| 16 | g.30986628A>C | CA395640543 | HSD3B7 | c.455A>C (p.Glu152Ala) c.578A>C (p.Glu193Ala) | |
| 16 | g.30986628A>G | CA395640546 | HSD3B7 | c.455A>G (p.Glu152Gly) c.578A>G (p.Glu193Gly) | |
| 16 | g.30986628A>T | CA395640548 | HSD3B7 | c.455A>T (p.Glu152Val) c.578A>T (p.Glu193Val) | |
| 16 | g.30986629A>C | CA395640552 | HSD3B7 | c.456A>C (p.Glu152Asp) c.579A>C (p.Glu193Asp) | |
| 16 | g.30986629A>G | CA494920685 | HSD3B7 | c.456A>G (p.Glu152=) c.579A>G (p.Glu193=) | |
| 16 | g.30986629A>T | CA395640550 | HSD3B7 | c.456A>T (p.Glu152Asp) c.579A>T (p.Glu193Asp) | |
| 16 | g.30986630G>A | CA395640553 | HSD3B7 | c.457G>A (p.Ala153Thr) c.580G>A (p.Ala194Thr) | |
| 16 | g.30986630G>C | CA395640554 | HSD3B7 | c.457G>C (p.Ala153Pro) c.580G>C (p.Ala194Pro) | |
| 16 | g.30986630G>T | CA395640556 | HSD3B7 | c.457G>T (p.Ala153Ser) c.580G>T (p.Ala194Ser) | |
| 16 | g.30986631C>A | CA395640557 | HSD3B7 | c.458C>A (p.Ala153Glu) c.581C>A (p.Ala194Glu) | |
| 16 | g.30986631C>G | CA395640559 | HSD3B7 | c.458C>G (p.Ala153Gly) c.581C>G (p.Ala194Gly) | |
| 16 | g.30986631C>T | CA395640561 | HSD3B7 | c.458C>T (p.Ala153Val) c.581C>T (p.Ala194Val) | |
| 16 | g.30986632A>C | CA494920689 | HSD3B7 | c.459A>C (p.Ala153=) c.582A>C (p.Ala194=) | |
| 16 | g.30986632A>G | CA494920691 | HSD3B7 | c.459A>G (p.Ala153=) c.582A>G (p.Ala194=) | |
| 16 | g.30986632A>T | CA494920690 | HSD3B7 | c.459A>T (p.Ala153=) c.582A>T (p.Ala194=) | |
| 16 | g.30986633G>A | CA395640563 | HSD3B7 | c.460G>A (p.Val154Met) c.583G>A (p.Val195Met) | |
| 16 | g.30986633G>C | CA395640565 | HSD3B7 | c.460G>C (p.Val154Leu) c.583G>C (p.Val195Leu) | |
| 16 | g.30986633G>T | CA395640564 | HSD3B7 | c.460G>T (p.Val154Leu) c.583G>T (p.Val195Leu) | |
| 16 | g.30986634T>A | CA395640568 | HSD3B7 | c.461T>A (p.Val154Glu) c.584T>A (p.Val195Glu) | |
| 16 | g.30986634T>C | CA8018002 | HSD3B7 | c.461T>C (p.Val154Ala) c.584T>C (p.Val195Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986634T>G | CA395640571 | HSD3B7 | c.461T>G (p.Val154Gly) c.584T>G (p.Val195Gly) | |
| 16 | g.30986634T= | CA2216822257 | HSD3B7 | c.461T= (p.Val154=) c.584T= (p.Val195=) | |
| 16 | g.30986635G>A | CA494920694 | HSD3B7 | c.462G>A (p.Val154=) c.585G>A (p.Val195=) | |
| 16 | g.30986635G>C | CA494920695 | HSD3B7 | c.462G>C (p.Val154=) c.585G>C (p.Val195=) | |
| 16 | g.30986635G>T | CA494920696 | HSD3B7 | c.462G>T (p.Val154=) c.585G>T (p.Val195=) | |
| 16 | g.30986636C>A | CA395640574 | HSD3B7 | c.463C>A (p.His155Asn) c.586C>A (p.His196Asn) | dbSNP |
| 16 | g.30986636C= | CA2216822261 | HSD3B7 | c.463C= (p.His155=) c.586C= (p.His196=) | |
| 16 | g.30986636C>G | CA395640576 | HSD3B7 | c.463C>G (p.His155Asp) c.586C>G (p.His196Asp) | |
| 16 | g.30986636C>T | CA395640578 | HSD3B7 | c.463C>T (p.His155Tyr) c.586C>T (p.His196Tyr) | gnomAD v4 |
| 16 | g.30986637A>C | CA395640581 | HSD3B7 | c.464A>C (p.His155Pro) c.587A>C (p.His196Pro) | |
| 16 | g.30986637A>G | CA395640582 | HSD3B7 | c.464A>G (p.His155Arg) c.587A>G (p.His196Arg) | |
| 16 | g.30986637A>T | CA395640584 | HSD3B7 | c.464A>T (p.His155Leu) c.587A>T (p.His196Leu) | gnomAD v4 |
| 16 | g.30986637_30986638delinsAC | CA2216822264 | HSD3B7 | c.464_465delinsAC (p.His155=) c.587_588delinsAC (p.His196=) | |
| 16 | g.30986638del | CA622171176 | HSD3B7 | c.465del (p.His155GlnfsTer?) c.588del (p.His196GlnfsTer?) | dbSNP gnomAD v2 |
| 16 | g.30986638C>A | CA395640587 | HSD3B7 | c.465C>A (p.His155Gln) c.588C>A (p.His196Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986638C= | CA2216822271 | HSD3B7 | c.465C= (p.His155=) c.588C= (p.His196=) | |
| 16 | g.30986638C>G | CA395640588 | HSD3B7 | c.465C>G (p.His155Gln) c.588C>G (p.His196Gln) | COSMIC |
| 16 | g.30986638C>T | CA494920699 | HSD3B7 | c.465C>T (p.His155=) c.588C>T (p.His196=) | |
| 16 | g.30986639A= | CA2216822283 | HSD3B7 | c.466A= (p.Arg156=) c.589A= (p.Arg197=) | |
| 16 | g.30986639A>C | CA494920700 | HSD3B7 | c.466A>C (p.Arg156=) c.589A>C (p.Arg197=) | |
| 16 | g.30986639A>G | CA8018003 | HSD3B7 | c.466A>G (p.Arg156Gly) c.589A>G (p.Arg197Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986639A>T | CA395640589 | HSD3B7 | c.466A>T (p.Arg156Trp) c.589A>T (p.Arg197Trp) | |
| 16 | g.30986640G>A | CA395640592 | HSD3B7 | c.467G>A (p.Arg156Lys) c.590G>A (p.Arg197Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986640G>C | CA395640596 | HSD3B7 | c.467G>C (p.Arg156Thr) c.590G>C (p.Arg197Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986640G= | CA2216822289 | HSD3B7 | c.467G= (p.Arg156=) c.590G= (p.Arg197=) | |
| 16 | g.30986640G>T | CA395640594 | HSD3B7 | c.467G>T (p.Arg156Met) c.590G>T (p.Arg197Met) | |
| 16 | g.30986641G>A | CA494920701 | HSD3B7 | c.468G>A (p.Arg156=) c.591G>A (p.Arg197=) | |
| 16 | g.30986641G>C | CA395640598 | HSD3B7 | c.468G>C (p.Arg156Ser) c.591G>C (p.Arg197Ser) | gnomAD v4 |
| 16 | g.30986641G>T | CA395640599 | HSD3B7 | c.468G>T (p.Arg156Ser) c.591G>T (p.Arg197Ser) | |
| 16 | g.30986642C>A | CA395640600 | HSD3B7 | c.469C>A (p.His157Asn) c.592C>A (p.His198Asn) | |
| 16 | g.30986642C= | CA2216822293 | HSD3B7 | c.469C= (p.His157=) c.592C= (p.His198=) | |
| 16 | g.30986642C>G | CA395640601 | HSD3B7 | c.469C>G (p.His157Asp) c.592C>G (p.His198Asp) | |
| 16 | g.30986642C>T | CA395640602 | HSD3B7 | c.469C>T (p.His157Tyr) c.592C>T (p.His198Tyr) | dbSNP |
| 16 | g.30986643A= | CA2216822296 | HSD3B7 | c.470A= (p.His157=) c.593A= (p.His198=) | |
| 16 | g.30986643A>C | CA395640604 | HSD3B7 | c.470A>C (p.His157Pro) c.593A>C (p.His198Pro) | |
| 16 | g.30986643A>G | CA395640605 | HSD3B7 | c.470A>G (p.His157Arg) c.593A>G (p.His198Arg) | dbSNP |
| 16 | g.30986643A>T | CA395640606 | HSD3B7 | c.470A>T (p.His157Leu) c.593A>T (p.His198Leu) | |
| 16 | g.30986644C>A | CA8018004 | HSD3B7 | c.471C>A (p.His157Gln) c.594C>A (p.His198Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986644C= | CA2216822304 | HSD3B7 | c.471C= (p.His157=) c.594C= (p.His198=) | |
| 16 | g.30986644C>G | CA395640610 | HSD3B7 | c.471C>G (p.His157Gln) c.594C>G (p.His198Gln) | |
| 16 | g.30986644C>T | CA494920705 | HSD3B7 | c.471C>T (p.His157=) c.594C>T (p.His198=) | |
| 16 | g.30986647del | CA2695223279 | HSD3B7 | c.474del (p.Tyr159IlefsTer27) c.474del (p.Tyr159IlefsTer?) c.597del (p.Tyr200IlefsTer?) | |
| 16 | g.30986645C>A | CA395640612 | HSD3B7 | c.472C>A (p.Pro158Thr) c.595C>A (p.Pro199Thr) | |
| 16 | g.30986645C>G | CA395640615 | HSD3B7 | c.472C>G (p.Pro158Ala) c.595C>G (p.Pro199Ala) | |
| 16 | g.30986645C>T | CA395640616 | HSD3B7 | c.472C>T (p.Pro158Ser) c.595C>T (p.Pro199Ser) | gnomAD v4 |
| 16 | g.30986646C>A | CA395640623 | HSD3B7 | c.473C>A (p.Pro158His) c.596C>A (p.Pro199His) | |
| 16 | g.30986646C>G | CA395640621 | HSD3B7 | c.473C>G (p.Pro158Arg) c.596C>G (p.Pro199Arg) | |
| 16 | g.30986646C>T | CA395640619 | HSD3B7 | c.473C>T (p.Pro158Leu) c.596C>T (p.Pro199Leu) | gnomAD v4 |
| 16 | g.30986647C>A | CA494920709 | HSD3B7 | c.474C>A (p.Pro158=) c.597C>A (p.Pro199=) | |
| 16 | g.30986647C>G | CA494920707 | HSD3B7 | c.474C>G (p.Pro158=) c.597C>G (p.Pro199=) | |
| 16 | g.30986647C>T | CA494920708 | HSD3B7 | c.474C>T (p.Pro158=) c.597C>T (p.Pro199=) | |
| 16 | g.30986647_30986648delinsCT | CA2216822308 | HSD3B7 | c.474_475delinsCT (p.Pro158=) c.597_598delinsCT (p.Pro199=) | |
| 16 | g.30986648del | CA2216822314 | HSD3B7 | c.475del (p.Tyr159IlefsTer27) c.475del (p.Tyr159IlefsTer?) c.598del (p.Tyr200IlefsTer?) | dbSNP |
| 16 | g.30986648T>A | CA395640625 | HSD3B7 | c.475T>A (p.Tyr159Asn) c.598T>A (p.Tyr200Asn) | |
| 16 | g.30986648T>C | CA395640627 | HSD3B7 | c.475T>C (p.Tyr159His) c.598T>C (p.Tyr200His) | |
| 16 | g.30986648T>G | CA395640629 | HSD3B7 | c.475T>G (p.Tyr159Asp) c.598T>G (p.Tyr200Asp) | |
| 16 | g.30986649A= | CA2216822319 | HSD3B7 | c.476A= (p.Tyr159=) c.599A= (p.Tyr200=) | |
| 16 | g.30986649A>C | CA395640631 | HSD3B7 | c.476A>C (p.Tyr159Ser) c.599A>C (p.Tyr200Ser) | |
| 16 | g.30986649A>G | CA395640633 | HSD3B7 | c.476A>G (p.Tyr159Cys) c.599A>G (p.Tyr200Cys) | dbSNP |
| 16 | g.30986649A>T | CA395640635 | HSD3B7 | c.476A>T (p.Tyr159Phe) c.599A>T (p.Tyr200Phe) | |
| 16 | g.30986650T>A | CA395640637 | HSD3B7 | c.477T>A (p.Tyr159Ter) c.600T>A (p.Tyr200Ter) | |
| 16 | g.30986650T>C | CA494920711 | HSD3B7 | c.477T>C (p.Tyr159=) c.600T>C (p.Tyr200=) | |
| 16 | g.30986650T>G | CA395640638 | HSD3B7 | c.477T>G (p.Tyr159Ter) c.600T>G (p.Tyr200Ter) | |
| 16 | g.30986651C>A | CA395640640 | HSD3B7 | c.478C>A (p.Pro160Thr) c.601C>A (p.Pro201Thr) | |
| 16 | g.30986651C>G | CA395640642 | HSD3B7 | c.478C>G (p.Pro160Ala) c.601C>G (p.Pro201Ala) | |
| 16 | g.30986651C>T | CA395640644 | HSD3B7 | c.478C>T (p.Pro160Ser) c.601C>T (p.Pro201Ser) | gnomAD v4 |
| 16 | g.30986652C>A | CA395640650 | HSD3B7 | c.479C>A (p.Pro160His) c.602C>A (p.Pro201His) | |
| 16 | g.30986652C>G | CA395640649 | HSD3B7 | c.479C>G (p.Pro160Arg) c.602C>G (p.Pro201Arg) | |
| 16 | g.30986652C>T | CA395640647 | HSD3B7 | c.479C>T (p.Pro160Leu) c.602C>T (p.Pro201Leu) | COSMIC |
| 16 | g.30986653T>A | CA494920715 | HSD3B7 | c.480T>A (p.Pro160=) c.603T>A (p.Pro201=) | |
| 16 | g.30986653T>C | CA494920717 | HSD3B7 | c.480T>C (p.Pro160=) c.603T>C (p.Pro201=) | dbSNP |
| 16 | g.30986653T>G | CA494920716 | HSD3B7 | c.480T>G (p.Pro160=) c.603T>G (p.Pro201=) | gnomAD v4 |
| 16 | g.30986653T= | CA2216822321 | HSD3B7 | c.480T= (p.Pro160=) c.603T= (p.Pro201=) | |
| 16 | g.30986654T>A | CA395640651 | HSD3B7 | c.481T>A (p.Cys161Ser) c.604T>A (p.Cys202Ser) | |
| 16 | g.30986654T>C | CA395640653 | HSD3B7 | c.481T>C (p.Cys161Arg) c.604T>C (p.Cys202Arg) | |
| 16 | g.30986654T>G | CA395640656 | HSD3B7 | c.481T>G (p.Cys161Gly) c.604T>G (p.Cys202Gly) | |
| 16 | g.30986655G>A | CA395640659 | HSD3B7 | c.482G>A (p.Cys161Tyr) c.605G>A (p.Cys202Tyr) | dbSNP gnomAD v4 |
| 16 | g.30986655G>C | CA395640660 | HSD3B7 | c.482G>C (p.Cys161Ser) c.605G>C (p.Cys202Ser) | |
| 16 | g.30986655G= | CA2216822327 | HSD3B7 | c.482G= (p.Cys161=) c.605G= (p.Cys202=) | |
| 16 | g.30986655G>T | CA395640663 | HSD3B7 | c.482G>T (p.Cys161Phe) c.605G>T (p.Cys202Phe) | |
| 16 | g.30986658_30986660del | CA2695223280 | HSD3B7 | c.485_487del (p.Ser162del) c.608_610del (p.Ser203del) | |
| 16 | g.30986656C>A | CA395640665 | HSD3B7 | c.483C>A (p.Cys161Ter) c.606C>A (p.Cys202Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986656C= | CA2216822335 | HSD3B7 | c.483C= (p.Cys161=) c.606C= (p.Cys202=) | |
| 16 | g.30986656C>G | CA8018005 | HSD3B7 | c.483C>G (p.Cys161Trp) c.606C>G (p.Cys202Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986656C>T | CA494920721 | HSD3B7 | c.483C>T (p.Cys161=) c.606C>T (p.Cys202=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986657A>C | CA395640668 | HSD3B7 | c.484A>C (p.Ser162Arg) c.607A>C (p.Ser203Arg) | |
| 16 | g.30986657A>G | CA395640669 | HSD3B7 | c.484A>G (p.Ser162Gly) c.607A>G (p.Ser203Gly) | |
| 16 | g.30986657A>T | CA395640677 | HSD3B7 | c.484A>T (p.Ser162Cys) c.607A>T (p.Ser203Cys) | |
| 16 | g.30986657_30986658delinsCC | CA2695223281 | HSD3B7 | c.484_485delinsCC (p.Ser162Pro) c.607_608delinsCC (p.Ser203Pro) | |
| 16 | g.30986658G>A | CA395640684 | HSD3B7 | c.485G>A (p.Ser162Asn) c.608G>A (p.Ser203Asn) | |
| 16 | g.30986658G>C | CA395640682 | HSD3B7 | c.485G>C (p.Ser162Thr) c.608G>C (p.Ser203Thr) | |
| 16 | g.30986658G>T | CA395640680 | HSD3B7 | c.485G>T (p.Ser162Ile) c.608G>T (p.Ser203Ile) | |
| 16 | g.30986659C>A | CA395640685 | HSD3B7 | c.486C>A (p.Ser162Arg) c.609C>A (p.Ser203Arg) | |
| 16 | g.30986659C= | CA2216822338 | HSD3B7 | c.486C= (p.Ser162=) c.609C= (p.Ser203=) | |
| 16 | g.30986659C>G | CA8018006 | HSD3B7 | c.486C>G (p.Ser162Arg) c.609C>G (p.Ser203Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986659C>T | CA494920724 | HSD3B7 | c.486C>T (p.Ser162=) c.609C>T (p.Ser203=) | gnomAD v4 |
| 16 | g.30986660A>C | CA395640692 | HSD3B7 | c.487A>C (p.Lys163Gln) c.610A>C (p.Lys204Gln) | |
| 16 | g.30986660A>G | CA395640694 | HSD3B7 | c.487A>G (p.Lys163Glu) c.610A>G (p.Lys204Glu) | |
| 16 | g.30986660A>T | CA395640696 | HSD3B7 | c.487A>T (p.Lys163Ter) c.610A>T (p.Lys204Ter) | |
| 16 | g.30986661A>C | CA395640698 | HSD3B7 | c.488A>C (p.Lys163Thr) c.611A>C (p.Lys204Thr) | |
| 16 | g.30986661A>G | CA395640700 | HSD3B7 | c.488A>G (p.Lys163Arg) c.611A>G (p.Lys204Arg) | |
| 16 | g.30986661A>T | CA395640702 | HSD3B7 | c.488A>T (p.Lys163Met) c.611A>T (p.Lys204Met) | |
| 16 | g.30986662G>A | CA494920725 | HSD3B7 | c.489G>A (p.Lys163=) c.612G>A (p.Lys204=) | |
| 16 | g.30986662G>C | CA395640704 | HSD3B7 | c.489G>C (p.Lys163Asn) c.612G>C (p.Lys204Asn) | |
| 16 | g.30986662G>T | CA395640706 | HSD3B7 | c.489G>T (p.Lys163Asn) c.612G>T (p.Lys204Asn) | |
| 16 | g.30986663G>A | CA395640708 | HSD3B7 | c.490G>A (p.Ala164Thr) c.613G>A (p.Ala205Thr) | |
| 16 | g.30986663G>C | CA395640710 | HSD3B7 | c.490G>C (p.Ala164Pro) c.613G>C (p.Ala205Pro) | |
| 16 | g.30986663G>T | CA395640712 | HSD3B7 | c.490G>T (p.Ala164Ser) c.613G>T (p.Ala205Ser) | |
| 16 | g.30986664C>A | CA395640715 | HSD3B7 | c.491C>A (p.Ala164Asp) c.614C>A (p.Ala205Asp) | |
| 16 | g.30986664C>G | CA395640718 | HSD3B7 | c.491C>G (p.Ala164Gly) c.614C>G (p.Ala205Gly) | gnomAD v4 |
| 16 | g.30986664C>T | CA395640714 | HSD3B7 | c.491C>T (p.Ala164Val) c.614C>T (p.Ala205Val) | |
| 16 | g.30986665C>A | CA494920727 | HSD3B7 | c.492C>A (p.Ala164=) c.615C>A (p.Ala205=) | |
| 16 | g.30986665C= | CA2216822345 | HSD3B7 | c.492C= (p.Ala164=) c.615C= (p.Ala205=) | |
| 16 | g.30986665C>G | CA494920728 | HSD3B7 | c.492C>G (p.Ala164=) c.615C>G (p.Ala205=) | |
| 16 | g.30986665C>T | CA494920729 | HSD3B7 | c.492C>T (p.Ala164=) c.615C>T (p.Ala205=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986666C>A | CA395640722 | HSD3B7 | c.493C>A (p.Leu165Met) c.616C>A (p.Leu206Met) | |
| 16 | g.30986666C= | CA2216822353 | HSD3B7 | c.493C= (p.Leu165=) c.616C= (p.Leu206=) | |
| 16 | g.30986666C>G | CA395640724 | HSD3B7 | c.493C>G (p.Leu165Val) c.616C>G (p.Leu206Val) | dbSNP |
| 16 | g.30986666C>T | CA280562020 | HSD3B7 | c.493C>T (p.Leu165=) c.616C>T (p.Leu206=) | dbSNP gnomAD v4 |
| 16 | g.30986667T>A | CA395640727 | HSD3B7 | c.494T>A (p.Leu165Gln) c.617T>A (p.Leu206Gln) | |
| 16 | g.30986667T>C | CA395640728 | HSD3B7 | c.494T>C (p.Leu165Pro) c.617T>C (p.Leu206Pro) | |
| 16 | g.30986667T>G | CA395640730 | HSD3B7 | c.494T>G (p.Leu165Arg) c.617T>G (p.Leu206Arg) | |
| 16 | g.30986668G>A | CA494920734 | HSD3B7 | c.495G>A (p.Leu165=) c.618G>A (p.Leu206=) | |
| 16 | g.30986668G>C | CA494920732 | HSD3B7 | c.495G>C (p.Leu165=) c.618G>C (p.Leu206=) | |
| 16 | g.30986668G>T | CA494920733 | HSD3B7 | c.495G>T (p.Leu165=) c.618G>T (p.Leu206=) | |
| 16 | g.30986669G>A | CA395640732 | HSD3B7 | c.496G>A (p.Ala166Thr) c.619G>A (p.Ala207Thr) | |
| 16 | g.30986669G>C | CA395640734 | HSD3B7 | c.496G>C (p.Ala166Pro) c.619G>C (p.Ala207Pro) | |
| 16 | g.30986669G= | CA2216822357 | HSD3B7 | c.496G= (p.Ala166=) c.619G= (p.Ala207=) | |
| 16 | g.30986669G>T | CA395640736 | HSD3B7 | c.496G>T (p.Ala166Ser) c.619G>T (p.Ala207Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986670C>A | CA395640738 | HSD3B7 | c.497C>A (p.Ala166Asp) c.620C>A (p.Ala207Asp) | |
| 16 | g.30986670C>G | CA395640740 | HSD3B7 | c.497C>G (p.Ala166Gly) c.620C>G (p.Ala207Gly) | |
| 16 | g.30986670C>T | CA395640742 | HSD3B7 | c.497C>T (p.Ala166Val) c.620C>T (p.Ala207Val) | gnomAD v4 |
| 16 | g.30986670_30986673del | CA2632803894 | HSD3B7 | c.497_500del (p.Ala166GlyfsTer19) c.497_500del (p.Ala166GlyfsTer?) c.620_623del (p.Ala207GlyfsTer?) | gnomAD v4 |
| 16 | g.30986671C>A | CA494920737 | HSD3B7 | c.498C>A (p.Ala166=) c.621C>A (p.Ala207=) | |
| 16 | g.30986671C= | CA2216822362 | HSD3B7 | c.498C= (p.Ala166=) c.621C= (p.Ala207=) | |
| 16 | g.30986671C>G | CA494920739 | HSD3B7 | c.498C>G (p.Ala166=) c.621C>G (p.Ala207=) | |
| 16 | g.30986671C>T | CA8018007 | HSD3B7 | c.498C>T (p.Ala166=) c.621C>T (p.Ala207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986672G>A | CA8018009 | HSD3B7 | c.499G>A (p.Glu167Lys) c.622G>A (p.Glu208Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.30986672G>C | CA280562038 | HSD3B7 | c.499G>C (p.Glu167Gln) c.622G>C (p.Glu208Gln) | dbSNP |
| 16 | g.30986672G= | CA2216822372 | HSD3B7 | c.499G= (p.Glu167=) c.622G= (p.Glu208=) | |
| 16 | g.30986672G>T | CA8018008 | HSD3B7 | c.499G>T (p.Glu167Ter) c.622G>T (p.Glu208Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986673A= | CA2216822375 | HSD3B7 | c.500A= (p.Glu167=) c.623A= (p.Glu208=) | |
| 16 | g.30986673A>C | CA395640751 | HSD3B7 | c.500A>C (p.Glu167Ala) c.623A>C (p.Glu208Ala) | |
| 16 | g.30986673A>G | CA395640753 | HSD3B7 | c.500A>G (p.Glu167Gly) c.623A>G (p.Glu208Gly) | dbSNP |
| 16 | g.30986673A>T | CA395640755 | HSD3B7 | c.500A>T (p.Glu167Val) c.623A>T (p.Glu208Val) | |
| 16 | g.30986674G>A | CA494920743 | HSD3B7 | c.501G>A (p.Glu167=) c.624G>A (p.Glu208=) | |
| 16 | g.30986674G>C | CA395640757 | HSD3B7 | c.501G>C (p.Glu167Asp) c.624G>C (p.Glu208Asp) | |
| 16 | g.30986674G>T | CA395640758 | HSD3B7 | c.501G>T (p.Glu167Asp) c.624G>T (p.Glu208Asp) | |
| 16 | g.30986675T>A | CA395640761 | HSD3B7 | c.502T>A (p.Trp168Arg) c.625T>A (p.Trp209Arg) | |
| 16 | g.30986675T>C | CA395640762 | HSD3B7 | c.502T>C (p.Trp168Arg) c.625T>C (p.Trp209Arg) | |
| 16 | g.30986675T>G | CA395640765 | HSD3B7 | c.502T>G (p.Trp168Gly) c.625T>G (p.Trp209Gly) | |
| 16 | g.30986676G>A | CA395640767 | HSD3B7 | c.503G>A (p.Trp168Ter) c.626G>A (p.Trp209Ter) | gnomAD v4 |
| 16 | g.30986676G>C | CA395640769 | HSD3B7 | c.503G>C (p.Trp168Ser) c.626G>C (p.Trp209Ser) | |
| 16 | g.30986676G>T | CA395640770 | HSD3B7 | c.503G>T (p.Trp168Leu) c.626G>T (p.Trp209Leu) | |
| 16 | g.30986677G>A | CA395640771 | HSD3B7 | c.504G>A (p.Trp168Ter) c.627G>A (p.Trp209Ter) | COSMIC |
| 16 | g.30986677G>C | CA395640772 | HSD3B7 | c.504G>C (p.Trp168Cys) c.627G>C (p.Trp209Cys) | |
| 16 | g.30986677G>T | CA395640773 | HSD3B7 | c.504G>T (p.Trp168Cys) c.627G>T (p.Trp209Cys) | |
| 16 | g.30986678C>A | CA395640775 | HSD3B7 | c.505C>A (p.Leu169Met) c.628C>A (p.Leu210Met) | |
| 16 | g.30986678C= | CA2216822378 | HSD3B7 | c.505C= (p.Leu169=) c.628C= (p.Leu210=) | |
| 16 | g.30986678C>G | CA395640776 | HSD3B7 | c.505C>G (p.Leu169Val) c.628C>G (p.Leu210Val) | |
| 16 | g.30986678C>T | CA8018010 | HSD3B7 | c.505C>T (p.Leu169=) c.628C>T (p.Leu210=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986679T>A | CA395640778 | HSD3B7 | c.506T>A (p.Leu169Gln) c.629T>A (p.Leu210Gln) | gnomAD v4 |
| 16 | g.30986679T>C | CA395640779 | HSD3B7 | c.506T>C (p.Leu169Pro) c.629T>C (p.Leu210Pro) | |
| 16 | g.30986679T>G | CA395640782 | HSD3B7 | c.506T>G (p.Leu169Arg) c.629T>G (p.Leu210Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986679T= | CA2216822382 | HSD3B7 | c.506T= (p.Leu169=) c.629T= (p.Leu210=) | |
| 16 | g.30986680G>A | CA494920748 | HSD3B7 | c.507G>A (p.Leu169=) c.630G>A (p.Leu210=) | dbSNP |
| 16 | g.30986680G>C | CA494920749 | HSD3B7 | c.507G>C (p.Leu169=) c.630G>C (p.Leu210=) | dbSNP |
| 16 | g.30986680G= | CA2216822387 | HSD3B7 | c.507G= (p.Leu169=) c.630G= (p.Leu210=) | |
| 16 | g.30986680G>T | CA494920750 | HSD3B7 | c.507G>T (p.Leu169=) c.630G>T (p.Leu210=) | |
| 16 | g.30986681G>A | CA395640785 | HSD3B7 | c.508G>A (p.Val170Ile) c.631G>A (p.Val211Ile) | |
| 16 | g.30986681G>C | CA395640788 | HSD3B7 | c.508G>C (p.Val170Leu) c.631G>C (p.Val211Leu) | |
| 16 | g.30986681G= | CA2216822402 | HSD3B7 | c.508G= (p.Val170=) c.631G= (p.Val211=) | |
| 16 | g.30986681G>T | CA395640792 | HSD3B7 | c.508G>T (p.Val170Phe) c.631G>T (p.Val211Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986682T>A | CA395640804 | HSD3B7 | c.509T>A (p.Val170Asp) c.632T>A (p.Val211Asp) | |
| 16 | g.30986682T>C | CA395640794 | HSD3B7 | c.509T>C (p.Val170Ala) c.632T>C (p.Val211Ala) | |
| 16 | g.30986682T>G | CA8018011 | HSD3B7 | c.509T>G (p.Val170Gly) c.632T>G (p.Val211Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986682T= | CA2216822407 | HSD3B7 | c.509T= (p.Val170=) c.632T= (p.Val211=) | |
| 16 | g.30986683C>A | CA494920751 | HSD3B7 | c.510C>A (p.Val170=) c.633C>A (p.Val211=) | |
| 16 | g.30986683C>G | CA494920752 | HSD3B7 | c.510C>G (p.Val170=) c.633C>G (p.Val211=) | |
| 16 | g.30986683C>T | CA494920753 | HSD3B7 | c.510C>T (p.Val170=) c.633C>T (p.Val211=) | |
| 16 | g.30986684C>A | CA395640806 | HSD3B7 | c.511C>A (p.Leu171Met) c.634C>A (p.Leu212Met) | |
| 16 | g.30986684C= | CA2216822415 | HSD3B7 | c.511C= (p.Leu171=) c.634C= (p.Leu212=) | |
| 16 | g.30986684C>G | CA395640808 | HSD3B7 | c.511C>G (p.Leu171Val) c.634C>G (p.Leu212Val) | |
| 16 | g.30986684C>T | CA494920757 | HSD3B7 | c.511C>T (p.Leu171=) c.634C>T (p.Leu212=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986685T>A | CA395640811 | HSD3B7 | c.512T>A (p.Leu171Gln) c.635T>A (p.Leu212Gln) | |
| 16 | g.30986685T>C | CA395640815 | HSD3B7 | c.512T>C (p.Leu171Pro) c.635T>C (p.Leu212Pro) | |
| 16 | g.30986685T>G | CA395640817 | HSD3B7 | c.512T>G (p.Leu171Arg) c.635T>G (p.Leu212Arg) | |
| 16 | g.30986686G>A | CA494920758 | HSD3B7 | c.513G>A (p.Leu171=) c.636G>A (p.Leu212=) | |
| 16 | g.30986686G>C | CA494920759 | HSD3B7 | c.513G>C (p.Leu171=) c.636G>C (p.Leu212=) | |
| 16 | g.30986686G>T | CA494920760 | HSD3B7 | c.513G>T (p.Leu171=) c.636G>T (p.Leu212=) | |
| 16 | g.30986687G>A | CA8018012 | HSD3B7 | c.514G>A (p.Glu172Lys) c.637G>A (p.Glu213Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986687G>C | CA395640829 | HSD3B7 | c.514G>C (p.Glu172Gln) c.637G>C (p.Glu213Gln) | |
| 16 | g.30986687G= | CA2216822420 | HSD3B7 | c.514G= (p.Glu172=) c.637G= (p.Glu213=) | |
| 16 | g.30986687G>T | CA395640825 | HSD3B7 | c.514G>T (p.Glu172Ter) c.637G>T (p.Glu213Ter) | |
| 16 | g.30986688A>C | CA395640831 | HSD3B7 | c.515A>C (p.Glu172Ala) c.638A>C (p.Glu213Ala) | gnomAD v4 |
| 16 | g.30986688A>G | CA395640833 | HSD3B7 | c.515A>G (p.Glu172Gly) c.638A>G (p.Glu213Gly) | |
| 16 | g.30986688A>T | CA395640834 | HSD3B7 | c.515A>T (p.Glu172Val) c.638A>T (p.Glu213Val) | |
| 16 | g.30986689G>A | CA494920762 | HSD3B7 | c.516G>A (p.Glu172=) c.639G>A (p.Glu213=) | |
| 16 | g.30986689G>C | CA395640839 | HSD3B7 | c.516G>C (p.Glu172Asp) c.639G>C (p.Glu213Asp) | |
| 16 | g.30986689G>T | CA395640842 | HSD3B7 | c.516G>T (p.Glu172Asp) c.639G>T (p.Glu213Asp) | |
| 16 | g.30986690G>A | CA395640845 | HSD3B7 | c.517G>A (p.Ala173Thr) c.640G>A (p.Ala214Thr) | |
| 16 | g.30986690G>C | CA395640848 | HSD3B7 | c.517G>C (p.Ala173Pro) c.640G>C (p.Ala214Pro) | |
| 16 | g.30986690G= | CA2216822425 | HSD3B7 | c.517G= (p.Ala173=) c.640G= (p.Ala214=) | |
| 16 | g.30986690G>T | CA395640851 | HSD3B7 | c.517G>T (p.Ala173Ser) c.640G>T (p.Ala214Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986691C>A | CA395640854 | HSD3B7 | c.518C>A (p.Ala173Asp) c.641C>A (p.Ala214Asp) | |
| 16 | g.30986691C>G | CA395640855 | HSD3B7 | c.518C>G (p.Ala173Gly) c.641C>G (p.Ala214Gly) | |
| 16 | g.30986691C>T | CA395640858 | HSD3B7 | c.518C>T (p.Ala173Val) c.641C>T (p.Ala214Val) | |
| 16 | g.30986692C>A | CA494920766 | HSD3B7 | c.519C>A (p.Ala173=) c.642C>A (p.Ala214=) | |
| 16 | g.30986692C>G | CA494920768 | HSD3B7 | c.519C>G (p.Ala173=) c.642C>G (p.Ala214=) | |
| 16 | g.30986692C>T | CA494920769 | HSD3B7 | c.519C>T (p.Ala173=) c.642C>T (p.Ala214=) | gnomAD v4 |
| 16 | g.30986693A>C | CA395640866 | HSD3B7 | c.520A>C (p.Asn174His) c.643A>C (p.Asn215His) | |
| 16 | g.30986693A>G | CA395640864 | HSD3B7 | c.520A>G (p.Asn174Asp) c.643A>G (p.Asn215Asp) | |
| 16 | g.30986693A>T | CA395640861 | HSD3B7 | c.520A>T (p.Asn174Tyr) c.643A>T (p.Asn215Tyr) | |
| 16 | g.30986694A= | CA2216822430 | HSD3B7 | c.521A= (p.Asn174=) c.644A= (p.Asn215=) | |
| 16 | g.30986694A>C | CA395640870 | HSD3B7 | c.521A>C (p.Asn174Thr) c.644A>C (p.Asn215Thr) | |
| 16 | g.30986694A>G | CA8018013 | HSD3B7 | c.521A>G (p.Asn174Ser) c.644A>G (p.Asn215Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986694A>T | CA395640873 | HSD3B7 | c.521A>T (p.Asn174Ile) c.644A>T (p.Asn215Ile) | |
| 16 | g.30986695C>A | CA395640876 | HSD3B7 | c.522C>A (p.Asn174Lys) c.645C>A (p.Asn215Lys) | gnomAD v4 |
| 16 | g.30986695C= | CA2216822439 | HSD3B7 | c.522C= (p.Asn174=) c.645C= (p.Asn215=) | |
| 16 | g.30986695C>G | CA395640879 | HSD3B7 | c.522C>G (p.Asn174Lys) c.645C>G (p.Asn215Lys) | gnomAD v4 |
| 16 | g.30986695C>T | CA8018014 | HSD3B7 | c.522C>T (p.Asn174=) c.645C>T (p.Asn215=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986696G>A | CA8018015 | HSD3B7 | c.523G>A (p.Gly175Arg) c.646G>A (p.Gly216Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986696G>C | CA395640890 | HSD3B7 | c.523G>C (p.Gly175Arg) c.646G>C (p.Gly216Arg) | |
| 16 | g.30986696G= | CA2216822445 | HSD3B7 | c.523G= (p.Gly175=) c.646G= (p.Gly216=) | |
| 16 | g.30986696G>T | CA280562089 | HSD3B7 | c.523G>T (p.Gly175Trp) c.646G>T (p.Gly216Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.30986698_30986701dup | CA2632803934 | HSD3B7 | c.525_528dup (p.Lys177GlufsTer22) c.525_528dup (p.Lys177GlufsTer?) c.648_651dup (p.Lys218GlufsTer?) c.525_528dup | gnomAD v4 |
| 16 | g.30986697G>A | CA395640892 | HSD3B7 | c.524G>A (p.Gly175Glu) c.647G>A (p.Gly216Glu) | dbSNP gnomAD v4 |
| 16 | g.30986697G>C | CA395640893 | HSD3B7 | c.524G>C (p.Gly175Ala) c.647G>C (p.Gly216Ala) | |
| 16 | g.30986697G= | CA2216822450 | HSD3B7 | c.524G= (p.Gly175=) c.647G= (p.Gly216=) | |
| 16 | g.30986697G>T | CA395640894 | HSD3B7 | c.524G>T (p.Gly175Val) c.647G>T (p.Gly216Val) | |
| 16 | g.30986698G>A | CA494920774 | HSD3B7 | c.525G>A (p.Gly175=) c.648G>A (p.Gly216=) | |
| 16 | g.30986698G>C | CA494920775 | HSD3B7 | c.525G>C (p.Gly175=) c.648G>C (p.Gly216=) | |
| 16 | g.30986698G>T | CA494920776 | HSD3B7 | c.525G>T (p.Gly175=) c.648G>T (p.Gly216=) | |
| 16 | g.30986699A= | CA2216822454 | HSD3B7 | c.526A= (p.Arg176=) c.649A= (p.Arg217=) | |
| 16 | g.30986699A>C | CA494920777 | HSD3B7 | c.526A>C (p.Arg176=) c.649A>C (p.Arg217=) | |
| 16 | g.30986699A>G | CA395640896 | HSD3B7 | c.526A>G (p.Arg176Gly) c.649A>G (p.Arg217Gly) | dbSNP |
| 16 | g.30986699A>T | CA395640897 | HSD3B7 | c.526A>T (p.Arg176Trp) c.649A>T (p.Arg217Trp) | |
| 16 | g.30986700G>A | CA395640900 | HSD3B7 | c.527G>A (p.Arg176Lys) c.650G>A (p.Arg217Lys) | |
| 16 | g.30986700G>C | CA395640902 | HSD3B7 | c.527G>C (p.Arg176Thr) c.650G>C (p.Arg217Thr) | |
| 16 | g.30986700G>T | CA395640904 | HSD3B7 | c.527G>T (p.Arg176Met) c.650G>T (p.Arg217Met) | |
| 16 | g.30986701G>A | CA494920779 | HSD3B7 | c.528G>A (p.Arg176=) c.651G>A (p.Arg217=) | gnomAD v4 |
| 16 | g.30986701G>C | CA395640910 | HSD3B7 | c.528G>C (p.Arg176Ser) c.651G>C (p.Arg217Ser) | gnomAD v4 |
| 16 | g.30986701G>T | CA395640907 | HSD3B7 | c.528G>T (p.Arg176Ser) c.651G>T (p.Arg217Ser) | |
| 16 | g.30986702_30986704del | CA2632803941 | HSD3B7 | c.529_531del (p.Lys177del) c.652_654del (p.Lys218del) | gnomAD v4 |
| 16 | g.30986702A>C | CA395640913 | HSD3B7 | c.529A>C (p.Lys177Gln) c.652A>C (p.Lys218Gln) c.529A>C | |
| 16 | g.30986702A>G | CA395640916 | HSD3B7 | c.529A>G (p.Lys177Glu) c.652A>G (p.Lys218Glu) c.529A>G | |
| 16 | g.30986702A>T | CA395640918 | HSD3B7 | c.529A>T (p.Lys177Ter) c.652A>T (p.Lys218Ter) c.529A>T | gnomAD v4 |
| 16 | g.30986703A>C | CA395640921 | HSD3B7 | c.530A>C (p.Lys177Thr) c.653A>C (p.Lys218Thr) c.530A>C | |
| 16 | g.30986703A>G | CA395640925 | HSD3B7 | c.530A>G (p.Lys177Arg) c.653A>G (p.Lys218Arg) c.530A>G | |
| 16 | g.30986703A>T | CA395640926 | HSD3B7 | c.530A>T (p.Lys177Met) c.653A>T (p.Lys218Met) c.530A>T | |
| 16 | g.30986704G>A | CA494920782 | HSD3B7 | c.531G>A (p.Lys177=) c.654G>A (p.Lys218=) | |
| 16 | g.30986704G>C | CA395640930 | HSD3B7 | c.531G>C (p.Lys177Asn) c.654G>C (p.Lys218Asn) | |
| 16 | g.30986704G>T | CA395640932 | HSD3B7 | c.531G>T (p.Lys177Asn) c.654G>T (p.Lys218Asn) | |
| 16 | g.30986705G>A | CA395640935 | HSD3B7 | c.531+1G>A (n.531+1G>A) c.655G>A (p.Val219Met) | ClinVar |
| 16 | g.30986705G>C | CA395640938 | HSD3B7 | c.531+1G>C (n.531+1G>C) c.655G>C (p.Val219Leu) | |
| 16 | g.30986705G>T | CA395640941 | HSD3B7 | c.531+1G>T (n.531+1G>T) c.655G>T (p.Val219Leu) | |
| 16 | g.30986706T>A | CA395640942 | HSD3B7 | c.531+2T>A (n.531+2T>A) c.656T>A (p.Val219Glu) | |
| 16 | g.30986706T>C | CA395640943 | HSD3B7 | c.531+2T>C (n.531+2T>C) c.656T>C (p.Val219Ala) | gnomAD v4 |
| 16 | g.30986706T>G | CA280562092 | HSD3B7 | c.531+2T>G (n.531+2T>G) c.656T>G (p.Val219Gly) | dbSNP |
| 16 | g.30986706T= | CA2216822463 | HSD3B7 | c.531+2T= (n.531+2T=) c.656T= (p.Val219=) | |
| 16 | g.30986707G>A | CA280562095 | HSD3B7 | c.531+3G>A (n.531+3G>A) c.657G>A (p.Val219=) | dbSNP |
| 16 | g.30986707G= | CA2216822471 | HSD3B7 | c.531+3G= (n.531+3G=) c.657G= (p.Val219=) | |
| 16 | g.30986712C>T | CA645572533 | HSD3B7 | c.531+8C>T (n.531+8C>T) | COSMIC |
| 16 | g.30986713A= | CA2216822473 | HSD3B7 | c.531+9A= (n.531+9A=) | |
| 16 | g.30986713A>C | CA622171179 | HSD3B7 | c.531+9A>C (n.531+9A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986715A= | CA2216822479 | HSD3B7 | c.531+11A= (n.531+11A=) | |
| 16 | g.30986715A>G | CA622171180 | HSD3B7 | c.531+11A>G (n.531+11A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986717A= | CA2216822487 | HSD3B7 | c.531+13A= (n.531+13A=) | |
| 16 | g.30986717A>T | CA622171181 | HSD3B7 | c.531+13A>T (n.531+13A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986718_30986721delinsAAGG | CA2216822495 | HSD3B7 | c.531+14_531+17delinsAAGG (n.531+14_531+17delinsAAGG) | |
| 16 | g.30986719_30986720delinsAG | CA2216822501 | HSD3B7 | c.531+15_531+16delinsAG (n.531+15_531+16delinsAG) | |
| 16 | g.30986722_30986724del | CA8018016 | HSD3B7 | c.531+18_531+20del (n.531+18_531+20del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986720G>A | CA280562104 | HSD3B7 | c.531+16G>A (n.531+16G>A) | dbSNP gnomAD v4 |
| 16 | g.30986720G= | CA2216822503 | HSD3B7 | c.531+16G= (n.531+16G=) | |
| 16 | g.30986721del | CA2216822502 | HSD3B7 | c.531+17del (n.531+17del) | dbSNP |
| 16 | g.30986722A>C | CA2632803949 | HSD3B7 | c.531+18A>C (n.531+18A>C) | gnomAD v4 |