Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.30986546C>T | CA2632803650 | HSD3B7 | c.431+15C>T (n.431+15C>T) c.554+15C>T (n.554+15C>T) | gnomAD v4 |
16 | g.30986547T>G | CA622171160 | HSD3B7 | c.431+16T>G (n.431+16T>G) c.554+16T>G (n.554+16T>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30986547T= | CA2216822068 | HSD3B7 | c.431+16T= (n.431+16T=) c.554+16T= (n.554+16T=) | |
16 | g.30986548C= | CA2216822074 | HSD3B7 | c.431+17C= (n.431+17C=) c.554+17C= (n.554+17C=) | |
16 | g.30986548C>T | CA8017988 | HSD3B7 | c.431+17C>T (n.431+17C>T) c.554+17C>T (n.554+17C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986549T>C | CA622171161 | HSD3B7 | c.431+18T>C (n.431+18T>C) c.554+18T>C (n.554+18T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986549T= | CA2216822080 | HSD3B7 | c.431+18T= (n.431+18T=) c.554+18T= (n.554+18T=) | |
16 | g.30986554C= | CA2216822085 | HSD3B7 | c.431+23C= (n.431+23C=) c.554+23C= (n.554+23C=) | |
16 | g.30986554C>T | CA719897775 | HSD3B7 | c.431+23C>T (n.431+23C>T) c.554+23C>T (n.554+23C>T) | dbSNP |
16 | g.30986556C= | CA2216822090 | HSD3B7 | c.431+25C= (n.431+25C=) c.554+25C= (n.554+25C=) | |
16 | g.30986556C>G | CA2632803656 | HSD3B7 | c.431+25C>G (n.431+25C>G) c.554+25C>G (n.554+25C>G) | gnomAD v4 |
16 | g.30986556C>T | CA8017990 | HSD3B7 | c.431+25C>T (n.431+25C>T) c.554+25C>T (n.554+25C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30986556_30986560delinsCTAAG | CA2216822088 | HSD3B7 | c.431+25_431+29delinsCTAAG (n.431+25_431+29delinsCTAAG) c.554+25_554+29delinsCTAAG (n.554+25_554+29delinsCTAAG) | |
16 | g.30986557T>C | CA719897777 | HSD3B7 | c.431+26T>C (n.431+26T>C) c.554+26T>C (n.554+26T>C) | dbSNP |
16 | g.30986557T= | CA2216822100 | HSD3B7 | c.431+26T= (n.431+26T=) c.554+26T= (n.554+26T=) | |
16 | g.30986557dup | CA8017989 | HSD3B7 | c.431+26dup (n.431+26dup) c.554+26dup (n.554+26dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30986557_30986560del | CA622171162 | HSD3B7 | c.431+26_431+29del (n.431+26_431+29del) c.554+26_554+29del (n.554+26_554+29del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986558A>G | CA2575973592 | HSD3B7 | c.431+27A>G (n.431+27A>G) c.554+27A>G (n.554+27A>G) | |
16 | g.30986562G>A | CA2575973593 | HSD3B7 | c.431+31G>A (n.431+31G>A) c.554+31G>A (n.554+31G>A) | |
16 | g.30986563C= | CA2216822103 | HSD3B7 | c.431+32C= (n.431+32C=) c.554+32C= (n.554+32C=) | |
16 | g.30986563C>G | CA622171163 | HSD3B7 | c.431+32C>G (n.431+32C>G) c.554+32C>G (n.554+32C>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30986563C>T | CA2632803672 | HSD3B7 | c.431+32C>T (n.431+32C>T) c.554+32C>T (n.554+32C>T) | gnomAD v4 |
16 | g.30986564C= | CA2216822107 | HSD3B7 | c.431+33C= (n.431+33C=) c.554+33C= (n.554+33C=) | |
16 | g.30986564C>G | CA8017991 | HSD3B7 | c.431+33C>G (n.431+33C>G) c.554+33C>G (n.554+33C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30986565C= | CA2216822111 | HSD3B7 | c.431+34C= (n.431+34C=) c.554+34C= (n.554+34C=) | |
16 | g.30986565C>G | CA622171164 | HSD3B7 | c.431+34C>G (n.431+34C>G) c.554+34C>G (n.554+34C>G) | dbSNP gnomAD v2 |
16 | g.30986566A>G | CA2575973594 | HSD3B7 | c.431+35A>G (n.431+35A>G) c.554+35A>G (n.554+35A>G) | |
16 | g.30986571C>A | CA2575973595 | HSD3B7 | c.432-34C>A (n.432-34C>A) c.555-34C>A (n.555-34C>A) | |
16 | g.30986572C= | CA2216822113 | HSD3B7 | c.432-33C= (n.432-33C=) c.555-33C= (n.555-33C=) | |
16 | g.30986572C>T | CA2216822114 | HSD3B7 | c.432-33C>T (n.432-33C>T) c.555-33C>T (n.555-33C>T) | dbSNP gnomAD v4 |
16 | g.30986574C>T | CA2632803679 | HSD3B7 | c.432-31C>T (n.432-31C>T) c.555-31C>T (n.555-31C>T) | gnomAD v4 |
16 | g.30986575A>G | CA2632803681 | HSD3B7 | c.432-30A>G (n.432-30A>G) c.555-30A>G (n.555-30A>G) | gnomAD v4 |
16 | g.30986576del | CA2806494006 | HSD3B7 | c.432-29del (n.432-29del) c.555-29del (n.555-29del) | |
16 | g.30986577C= | CA2216822116 | HSD3B7 | c.432-28C= (n.432-28C=) c.555-28C= (n.555-28C=) | |
16 | g.30986577C>T | CA8017992 | HSD3B7 | c.432-28C>T (n.432-28C>T) c.555-28C>T (n.555-28C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30986581G>A | CA8017993 | HSD3B7 | c.432-24G>A (n.432-24G>A) c.555-24G>A (n.555-24G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30986581G= | CA2216822117 | HSD3B7 | c.432-24G= (n.432-24G=) c.555-24G= (n.555-24G=) | |
16 | g.30986582_30986583del | CA2632803683 | HSD3B7 | c.432-23_432-22del (n.432-23_432-22del) c.555-23_555-22del (n.555-23_555-22del) | gnomAD v4 |
16 | g.30986584T>C | CA622171166 | HSD3B7 | c.432-21T>C (n.432-21T>C) c.555-21T>C (n.555-21T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986584T= | CA2216822120 | HSD3B7 | c.432-21T= (n.432-21T=) c.555-21T= (n.555-21T=) | |
16 | g.30986584_30986588delinsTCTTC | CA2216822123 | HSD3B7 | c.432-21_432-17delinsTCTTC (n.432-21_432-17delinsTCTTC) c.555-21_555-17delinsTCTTC (n.555-21_555-17delinsTCTTC) | |
16 | g.30986585C= | CA2216822129 | HSD3B7 | c.432-20C= (n.432-20C=) c.555-20C= (n.555-20C=) | |
16 | g.30986585C>T | CA719897782 | HSD3B7 | c.432-20C>T (n.432-20C>T) c.555-20C>T (n.555-20C>T) | dbSNP gnomAD v4 |
16 | g.30986589_30986592del | CA8017994 | HSD3B7 | c.432-16_432-13del (n.432-16_432-13del) c.555-16_555-13del (n.555-16_555-13del) | dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.30986586T>A | CA280561979 | HSD3B7 | c.432-19T>A (n.432-19T>A) c.555-19T>A (n.555-19T>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.30986586T>C | CA8017995 | HSD3B7 | c.432-19T>C (n.432-19T>C) c.555-19T>C (n.555-19T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986586T= | CA2216822131 | HSD3B7 | c.432-19T= (n.432-19T=) c.555-19T= (n.555-19T=) | |
16 | g.30986588C>T | CA2575973596 | HSD3B7 | c.432-17C>T (n.432-17C>T) c.555-17C>T (n.555-17C>T) | gnomAD v4 |
16 | g.30986591T>C | CA622171168 | HSD3B7 | c.432-14T>C (n.432-14T>C) c.555-14T>C (n.555-14T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986591T= | CA2216822140 | HSD3B7 | c.432-14T= (n.432-14T=) c.555-14T= (n.555-14T=) | |
16 | g.30986591_30986594delinsTCTC | CA2216822136 | HSD3B7 | c.432-14_432-11delinsTCTC (n.432-14_432-11delinsTCTC) c.555-14_555-11delinsTCTC (n.555-14_555-11delinsTCTC) | |
16 | g.30986592C= | CA2216822142 | HSD3B7 | c.432-13C= (n.432-13C=) c.555-13C= (n.555-13C=) | |
16 | g.30986592C>T | CA8017996 | HSD3B7 | c.432-13C>T (n.432-13C>T) c.555-13C>T (n.555-13C>T) | dbSNP ExAC gnomAD v2 |
16 | g.30986596_30986598del | CA280561988 | HSD3B7 | c.432-9_432-7del (n.432-9_432-7del) c.555-9_555-7del (n.555-9_555-7del) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.30986593T>G | CA2575973597 | HSD3B7 | c.432-12T>G (n.432-12T>G) c.555-12T>G (n.555-12T>G) | |
16 | g.30986594C>G | CA2632803697 | HSD3B7 | c.432-11C>G (n.432-11C>G) c.555-11C>G (n.555-11C>G) | gnomAD v4 |
16 | g.30986597C>G | CA2632803698 | HSD3B7 | c.432-8C>G (n.432-8C>G) c.555-8C>G (n.555-8C>G) | gnomAD v4 |
16 | g.30986598C>T | CA2632803699 | HSD3B7 | c.432-7C>T (n.432-7C>T) c.555-7C>T (n.555-7C>T) | gnomAD v4 |
16 | g.30986599C>A | CA2632803701 | HSD3B7 | c.432-6C>A (n.432-6C>A) c.555-6C>A (n.555-6C>A) | gnomAD v4 |
16 | g.30986599C>T | CA2632803702 | HSD3B7 | c.432-6C>T (n.432-6C>T) c.555-6C>T (n.555-6C>T) | gnomAD v4 |
16 | g.30986600A>G | CA2632803704 | HSD3B7 | c.432-5A>G (n.432-5A>G) c.555-5A>G (n.555-5A>G) | gnomAD v4 |
16 | g.30986602C>A | CA622171169 | HSD3B7 | c.432-3C>A (n.432-3C>A) c.555-3C>A (n.555-3C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986602C= | CA2216822147 | HSD3B7 | c.432-3C= (n.432-3C=) c.555-3C= (n.555-3C=) | |
16 | g.30986602C>T | CA719897801 | HSD3B7 | c.432-3C>T (n.432-3C>T) c.555-3C>T (n.555-3C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.30986603del | CA2632803708 | HSD3B7 | c.432-2del (n.432-2del) c.555-2del (n.555-2del) | gnomAD v4 |
16 | g.30986603A>C | CA395640421 | HSD3B7 | c.432-2A>C (n.432-2A>C) c.555-2A>C (n.555-2A>C) | |
16 | g.30986603A>G | CA395640423 | HSD3B7 | c.432-2A>G (n.432-2A>G) c.555-2A>G (n.555-2A>G) | gnomAD v4 |
16 | g.30986603A>T | CA395640425 | HSD3B7 | c.432-2A>T (n.432-2A>T) c.555-2A>T (n.555-2A>T) | |
16 | g.30986604G>A | CA395640433 | HSD3B7 | c.432-1G>A (n.432-1G>A) c.555-1G>A (n.555-1G>A) | |
16 | g.30986604G>C | CA395640431 | HSD3B7 | c.432-1G>C (n.432-1G>C) c.555-1G>C (n.555-1G>C) | |
16 | g.30986604G= | CA2216822157 | HSD3B7 | c.432-1G= (n.432-1G=) c.555-1G= (n.555-1G=) | |
16 | g.30986604G>T | CA395640427 | HSD3B7 | c.432-1G>T (n.432-1G>T) c.555-1G>T (n.555-1G>T) | dbSNP |
16 | g.30986604_30986632delinsGGGGCAACGAAGACACCCCATACGAAGCA | CA2216822154 | HSD3B7 | c.432-1_459delinsGGGGCAACGAAGACACCCCATACGAAGCA c.555-1_582delinsGGGGCAACGAAGACACCCCATACGAAGCA | |
16 | g.30986605G>A | CA494920658 | HSD3B7 | c.432G>A (p.Arg144=) c.555G>A (p.Arg185=) | |
16 | g.30986605G>C | CA395640434 | HSD3B7 | c.432G>C (p.Arg144Ser) c.555G>C (p.Arg185Ser) | |
16 | g.30986605G>T | CA395640436 | HSD3B7 | c.432G>T (p.Arg144Ser) c.555G>T (p.Arg185Ser) | |
16 | g.30986606_30986633del | CA8017997 | HSD3B7 | c.433_460del (p.Gly145CysfsTer?) c.556_583del (p.Gly186CysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30986606G>A | CA395640440 | HSD3B7 | c.433G>A (p.Gly145Ser) c.556G>A (p.Gly186Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.30986606G>C | CA395640442 | HSD3B7 | c.433G>C (p.Gly145Arg) c.556G>C (p.Gly186Arg) | |
16 | g.30986606G= | CA2216822165 | HSD3B7 | c.433G= (p.Gly145=) c.556G= (p.Gly186=) | |
16 | g.30986606G>T | CA395640444 | HSD3B7 | c.433G>T (p.Gly145Cys) c.556G>T (p.Gly186Cys) | |
16 | g.30986607G>A | CA395640446 | HSD3B7 | c.434G>A (p.Gly145Asp) c.557G>A (p.Gly186Asp) | gnomAD v4 |
16 | g.30986607G>C | CA395640450 | HSD3B7 | c.434G>C (p.Gly145Ala) c.557G>C (p.Gly186Ala) | |
16 | g.30986607G>T | CA395640448 | HSD3B7 | c.434G>T (p.Gly145Val) c.557G>T (p.Gly186Val) | gnomAD v4 |
16 | g.30986608C>A | CA494920660 | HSD3B7 | c.435C>A (p.Gly145=) c.558C>A (p.Gly186=) | |
16 | g.30986608C>G | CA494920661 | HSD3B7 | c.435C>G (p.Gly145=) c.558C>G (p.Gly186=) | |
16 | g.30986608C>T | CA494920662 | HSD3B7 | c.435C>T (p.Gly145=) c.558C>T (p.Gly186=) | |
16 | g.30986609A>C | CA395640452 | HSD3B7 | c.436A>C (p.Asn146His) c.559A>C (p.Asn187His) | |
16 | g.30986609A>G | CA395640455 | HSD3B7 | c.436A>G (p.Asn146Asp) c.559A>G (p.Asn187Asp) | |
16 | g.30986609A>T | CA395640456 | HSD3B7 | c.436A>T (p.Asn146Tyr) c.559A>T (p.Asn187Tyr) | |
16 | g.30986610A>C | CA395640459 | HSD3B7 | c.437A>C (p.Asn146Thr) c.560A>C (p.Asn187Thr) | |
16 | g.30986610A>G | CA395640461 | HSD3B7 | c.437A>G (p.Asn146Ser) c.560A>G (p.Asn187Ser) | |
16 | g.30986610A>T | CA395640462 | HSD3B7 | c.437A>T (p.Asn146Ile) c.560A>T (p.Asn187Ile) | |
16 | g.30986611C>A | CA395640466 | HSD3B7 | c.438C>A (p.Asn146Lys) c.561C>A (p.Asn187Lys) | |
16 | g.30986611C= | CA2216822175 | HSD3B7 | c.438C= (p.Asn146=) c.561C= (p.Asn187=) | |
16 | g.30986611C>G | CA395640467 | HSD3B7 | c.438C>G (p.Asn146Lys) c.561C>G (p.Asn187Lys) | |
16 | g.30986611C>T | CA280561997 | HSD3B7 | c.438C>T (p.Asn146=) c.561C>T (p.Asn187=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.30986612G>A | CA115827 | HSD3B7 | c.439G>A (p.Glu147Lys) c.562G>A (p.Glu188Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.30986612G>C | CA395640470 | HSD3B7 | c.439G>C (p.Glu147Gln) c.562G>C (p.Glu188Gln) | |
16 | g.30986612G= | CA2216822183 | HSD3B7 | c.439G= (p.Glu147=) c.562G= (p.Glu188=) | |
16 | g.30986612G>T | CA395640472 | HSD3B7 | c.439G>T (p.Glu147Ter) c.562G>T (p.Glu188Ter) | |
16 | g.30986613A>C | CA395640477 | HSD3B7 | c.440A>C (p.Glu147Ala) c.563A>C (p.Glu188Ala) | |
16 | g.30986613A>G | CA395640475 | HSD3B7 | c.440A>G (p.Glu147Gly) c.563A>G (p.Glu188Gly) | |
16 | g.30986613A>T | CA395640474 | HSD3B7 | c.440A>T (p.Glu147Val) c.563A>T (p.Glu188Val) | |
16 | g.30986614A>C | CA395640479 | HSD3B7 | c.441A>C (p.Glu147Asp) c.564A>C (p.Glu188Asp) | |
16 | g.30986614A>G | CA494920667 | HSD3B7 | c.441A>G (p.Glu147=) c.564A>G (p.Glu188=) | |
16 | g.30986614A>T | CA395640481 | HSD3B7 | c.441A>T (p.Glu147Asp) c.564A>T (p.Glu188Asp) | |
16 | g.30986615G>A | CA395640482 | HSD3B7 | c.442G>A (p.Asp148Asn) c.565G>A (p.Asp189Asn) | gnomAD v4 |
16 | g.30986615G>C | CA395640483 | HSD3B7 | c.442G>C (p.Asp148His) c.565G>C (p.Asp189His) | |
16 | g.30986615G>T | CA395640485 | HSD3B7 | c.442G>T (p.Asp148Tyr) c.565G>T (p.Asp189Tyr) | |
16 | g.30986616A= | CA2216822184 | HSD3B7 | c.443A= (p.Asp148=) c.566A= (p.Asp189=) | |
16 | g.30986616A>C | CA395640488 | HSD3B7 | c.443A>C (p.Asp148Ala) c.566A>C (p.Asp189Ala) | |
16 | g.30986616A>G | CA395640490 | HSD3B7 | c.443A>G (p.Asp148Gly) c.566A>G (p.Asp189Gly) | |
16 | g.30986616A>T | CA8017998 | HSD3B7 | c.443A>T (p.Asp148Val) c.566A>T (p.Asp189Val) | dbSNP ExAC gnomAD v2 |
16 | g.30986617C>A | CA395640492 | HSD3B7 | c.444C>A (p.Asp148Glu) c.567C>A (p.Asp189Glu) | |
16 | g.30986617C= | CA2216822190 | HSD3B7 | c.444C= (p.Asp148=) c.567C= (p.Asp189=) | |
16 | g.30986617C>G | CA395640494 | HSD3B7 | c.444C>G (p.Asp148Glu) c.567C>G (p.Asp189Glu) | |
16 | g.30986617C>T | CA494920669 | HSD3B7 | c.444C>T (p.Asp148=) c.567C>T (p.Asp189=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.30986618A= | CA2216822198 | HSD3B7 | c.445A= (p.Thr149=) c.568A= (p.Thr190=) | |
16 | g.30986618A>C | CA395640497 | HSD3B7 | c.445A>C (p.Thr149Pro) c.568A>C (p.Thr190Pro) | |
16 | g.30986618A>G | CA395640498 | HSD3B7 | c.445A>G (p.Thr149Ala) c.568A>G (p.Thr190Ala) | |
16 | g.30986618A>T | CA8017999 | HSD3B7 | c.445A>T (p.Thr149Ser) c.568A>T (p.Thr190Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30986619C>A | CA395640505 | HSD3B7 | c.446C>A (p.Thr149Asn) c.569C>A (p.Thr190Asn) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30986619C= | CA2216822201 | HSD3B7 | c.446C= (p.Thr149=) c.569C= (p.Thr190=) | |
16 | g.30986619C>G | CA395640503 | HSD3B7 | c.446C>G (p.Thr149Ser) c.569C>G (p.Thr190Ser) | |
16 | g.30986619C>T | CA395640501 | HSD3B7 | c.446C>T (p.Thr149Ile) c.569C>T (p.Thr190Ile) | gnomAD v4 |
16 | g.30986620C>A | CA494920671 | HSD3B7 | c.447C>A (p.Thr149=) c.570C>A (p.Thr190=) | |
16 | g.30986620C>G | CA494920673 | HSD3B7 | c.447C>G (p.Thr149=) c.570C>G (p.Thr190=) | |
16 | g.30986620C>T | CA494920675 | HSD3B7 | c.447C>T (p.Thr149=) c.570C>T (p.Thr190=) | COSMIC |
16 | g.30986621C>A | CA395640508 | HSD3B7 | c.448C>A (p.Pro150Thr) c.571C>A (p.Pro191Thr) | |
16 | g.30986621C= | CA2216822206 | HSD3B7 | c.448C= (p.Pro150=) c.571C= (p.Pro191=) | |
16 | g.30986621C>G | CA395640510 | HSD3B7 | c.448C>G (p.Pro150Ala) c.571C>G (p.Pro191Ala) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30986621C>T | CA395640512 | HSD3B7 | c.448C>T (p.Pro150Ser) c.571C>T (p.Pro191Ser) | |
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.30986641dup | CA2841871972 | HSD3B7 | c.468dup (p.His157AlafsTer?) c.591dup (p.His198AlafsTer?) | |
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 |