Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.31580605del | CA531769316 | SRD5A2 | c.281+16del (n.281+16del) c.27-46838del (n.27-46838del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580604_31580606delinsAAG | CA1242220999 | SRD5A2 | c.281+14_281+16delinsCTT (n.281+14_281+16delinsCTT) c.27-46840_27-46838delinsCTT (n.27-46840_27-46838delinsCTT) | |
2 | g.31580605A= | CA1242221000 | SRD5A2 | c.281+15T= (n.281+15T=) c.27-46839T= (n.27-46839T=) | |
2 | g.31580605A>C | CA1028975488 | SRD5A2 | c.281+15T>G (n.281+15T>G) c.27-46839T>G (n.27-46839T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580605A>G | CA224906 | SRD5A2 | c.281+15T>C (n.281+15T>C) c.27-46839T>C (n.27-46839T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580605A>T | CA2581760312 | SRD5A2 | c.281+15T>A (n.281+15T>A) c.27-46839T>A (n.27-46839T>A) | gnomAD v4 |
2 | g.31580605_31580606del | CA531769317 | SRD5A2 | c.281+14_281+15del (n.281+14_281+15del) c.27-46840_27-46839del (n.27-46840_27-46839del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580605_31580606insTTAGGGCAGTGCGCTGCACTGGGCGCCCGCAG | CA2658512688 | SRD5A2 | c.281+14_281+15insCTGCGGGCGCCCAGTGCAGCGCACTGCCCTAA (n.281+14_281+15insCTGCGGGCGCCCAGTGCAGCGCACTGCCCTAA) c.27-46840_27-46839insCTGCGGGCGCCCAGTGCAGCGCACTGCCCTAA (n.27-46840_27-46839insCTGCGGGCGCCCAGTGCAGCGCACTGCCCTAA) | gnomAD v4 |
2 | g.31580606G>A | CA45142044 | SRD5A2 | c.281+14C>T (n.281+14C>T) c.27-46840C>T (n.27-46840C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580606G= | CA1242221001 | SRD5A2 | c.281+14C= (n.281+14C=) c.27-46840C= (n.27-46840C=) | |
2 | g.31580606G>T | CA531769318 | SRD5A2 | c.281+14C>A (n.281+14C>A) c.27-46840C>A (n.27-46840C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580607G>A | CA1028975495 | SRD5A2 | c.281+13C>T (n.281+13C>T) c.27-46841C>T (n.27-46841C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580607G>C | CA224905 | SRD5A2 | c.281+13C>G (n.281+13C>G) c.27-46841C>G (n.27-46841C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580607G= | CA1242221002 | SRD5A2 | c.281+13C= (n.281+13C=) c.27-46841C= (n.27-46841C=) | |
2 | g.31580607G>T | CA2658512689 | SRD5A2 | c.281+13C>A (n.281+13C>A) c.27-46841C>A (n.27-46841C>A) | ClinVar gnomAD v4 |
2 | g.31580608G>A | CA531769319 | SRD5A2 | c.281+12C>T (n.281+12C>T) c.27-46842C>T (n.27-46842C>T) | dbSNP gnomAD v2 |
2 | g.31580608G>C | CA2658512690 | SRD5A2 | c.281+12C>G (n.281+12C>G) c.27-46842C>G (n.27-46842C>G) | gnomAD v4 |
2 | g.31580608G= | CA1242221003 | SRD5A2 | c.281+12C= (n.281+12C=) c.27-46842C= (n.27-46842C=) | |
2 | g.31580609A= | CA1242221004 | SRD5A2 | c.281+11T= (n.281+11T=) c.27-46843T= (n.27-46843T=) | |
2 | g.31580609A>C | CA2658512691 | SRD5A2 | c.281+11T>G (n.281+11T>G) c.27-46843T>G (n.27-46843T>G) | gnomAD v4 |
2 | g.31580609A>G | CA1599993 | SRD5A2 | c.281+11T>C (n.281+11T>C) c.27-46843T>C (n.27-46843T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580613dup | CA2576929421 | SRD5A2 | c.281+11dup (n.281+11dup) c.27-46843dup (n.27-46843dup) | |
2 | g.31580613del | CA2658512692 | SRD5A2 | c.281+11del (n.281+11del) c.27-46843del (n.27-46843del) | gnomAD v4 |
2 | g.31580610A= | CA1242221005 | SRD5A2 | c.281+10T= (n.281+10T=) c.27-46844T= (n.27-46844T=) | |
2 | g.31580610A>G | CA531769320 | SRD5A2 | c.281+10T>C (n.281+10T>C) c.27-46844T>C (n.27-46844T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580610A>T | CA2658512693 | SRD5A2 | c.281+10T>A (n.281+10T>A) c.27-46844T>A (n.27-46844T>A) | gnomAD v4 |
2 | g.31580611A>G | CA2658512694 | SRD5A2 | c.281+9T>C (n.281+9T>C) c.27-46845T>C (n.27-46845T>C) | gnomAD v4 |
2 | g.31580612A>C | CA2658512695 | SRD5A2 | c.281+8T>G (n.281+8T>G) c.27-46846T>G (n.27-46846T>G) | gnomAD v4 |
2 | g.31580613A>C | CA2658512696 | SRD5A2 | c.281+7T>G (n.281+7T>G) c.27-46847T>G (n.27-46847T>G) | gnomAD v4 |
2 | g.31580613A>G | CA2658512697 | SRD5A2 | c.281+7T>C (n.281+7T>C) c.27-46847T>C (n.27-46847T>C) | gnomAD v4 |
2 | g.31580613A>T | CA2658512698 | SRD5A2 | c.281+7T>A (n.281+7T>A) c.27-46847T>A (n.27-46847T>A) | gnomAD v4 |
2 | g.31580614C>A | CA2658512699 | SRD5A2 | c.281+6G>T (n.281+6G>T) c.27-46848G>T (n.27-46848G>T) | gnomAD v4 |
2 | g.31580614C>T | CA2658512700 | SRD5A2 | c.281+6G>A (n.281+6G>A) c.27-46848G>A (n.27-46848G>A) | gnomAD v4 |
2 | g.31580615G>A | CA1242221007 | SRD5A2 | c.281+5C>T (n.281+5C>T) c.27-46849C>T (n.27-46849C>T) | dbSNP gnomAD v4 |
2 | g.31580615G= | CA1242221006 | SRD5A2 | c.281+5C= (n.281+5C=) c.27-46849C= (n.27-46849C=) | |
2 | g.31580615G>T | CA2658512701 | SRD5A2 | c.281+5C>A (n.281+5C>A) c.27-46849C>A (n.27-46849C>A) | gnomAD v4 |
2 | g.31580616C>A | CA2658512702 | SRD5A2 | c.281+4G>T (n.281+4G>T) c.27-46850G>T (n.27-46850G>T) | gnomAD v4 |
2 | g.31580616C>T | CA2658512703 | SRD5A2 | c.281+4G>A (n.281+4G>A) c.27-46850G>A (n.27-46850G>A) | gnomAD v4 |
2 | g.31580617T>C | CA2658512704 | SRD5A2 | c.281+3A>G (n.281+3A>G) c.27-46851A>G (n.27-46851A>G) | gnomAD v4 |
2 | g.31580618A>C | CA346598750 | SRD5A2 | c.281+2T>G (n.281+2T>G) c.27-46852T>G (n.27-46852T>G) | |
2 | g.31580618A>G | CA346598751 | SRD5A2 | c.281+2T>C (n.281+2T>C) c.27-46852T>C (n.27-46852T>C) | ClinVar gnomAD v4 |
2 | g.31580618A>T | CA346598749 | SRD5A2 | c.281+2T>A (n.281+2T>A) c.27-46852T>A (n.27-46852T>A) | gnomAD v4 |
2 | g.31580618_31580619delinsAC | CA1242221008 | SRD5A2 | c.281+1_281+2delinsGT (n.281+1_281+2delinsGT) c.27-46853_27-46852delinsGT (n.27-46853_27-46852delinsGT) | |
2 | g.31580619C>A | CA346598752 | SRD5A2 | c.281+1G>T (n.281+1G>T) c.27-46853G>T (n.27-46853G>T) | gnomAD v4 |
2 | g.31580619C>G | CA346598753 | SRD5A2 | c.281+1G>C (n.281+1G>C) c.27-46853G>C (n.27-46853G>C) | |
2 | g.31580619C>T | CA346598754 | SRD5A2 | c.281+1G>A (n.281+1G>A) c.27-46853G>A (n.27-46853G>A) | |
2 | g.31580620del | CA1599994 | SRD5A2 | c.281+1del c.27-46853del (n.27-46853del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580620C>A | CA346598755 | SRD5A2 | c.281G>T (p.Arg94Met) c.27-46854G>T (n.27-46854G>T) | gnomAD v4 |
2 | g.31580620C= | CA1242221009 | SRD5A2 | c.281G= (p.Arg94=) c.27-46854G= (n.27-46854G=) | |
2 | g.31580620C>G | CA346598756 | SRD5A2 | c.281G>C (p.Arg94Thr) c.27-46854G>C (n.27-46854G>C) | |
2 | g.31580620C>T | CA346598757 | SRD5A2 | c.281G>A (p.Arg94Lys) c.27-46854G>A (n.27-46854G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580621T>A | CA346598758 | SRD5A2 | c.280A>T (p.Arg94Trp) c.27-46855A>T (n.27-46855A>T) | gnomAD v4 |
2 | g.31580621T>C | CA346598759 | SRD5A2 | c.280A>G (p.Arg94Gly) c.27-46855A>G (n.27-46855A>G) | dbSNP gnomAD v4 |
2 | g.31580621T>G | CA425626829 | SRD5A2 | c.280A>C (p.Arg94=) c.27-46855A>C (n.27-46855A>C) | |
2 | g.31580621T= | CA1242221010 | SRD5A2 | c.280A= (p.Arg94=) c.27-46855A= (n.27-46855A=) | |
2 | g.31580622G>A | CA425626830 | SRD5A2 | c.279C>T (p.His93=) c.27-46856C>T (n.27-46856C>T) | gnomAD v4 |
2 | g.31580622G>C | CA346598760 | SRD5A2 | c.279C>G (p.His93Gln) c.27-46856C>G (n.27-46856C>G) | |
2 | g.31580622G>T | CA346598761 | SRD5A2 | c.279C>A (p.His93Gln) c.27-46856C>A (n.27-46856C>A) | gnomAD v4 |
2 | g.31580623T>A | CA346598762 | SRD5A2 | c.278A>T (p.His93Leu) c.27-46857A>T (n.27-46857A>T) | gnomAD v4 |
2 | g.31580623T>C | CA346598763 | SRD5A2 | c.278A>G (p.His93Arg) c.27-46857A>G (n.27-46857A>G) | |
2 | g.31580623T>G | CA346598764 | SRD5A2 | c.278A>C (p.His93Pro) c.27-46857A>C (n.27-46857A>C) | gnomAD v4 |
2 | g.31580624G>A | CA346598765 | SRD5A2 | c.277C>T (p.His93Tyr) c.27-46858C>T (n.27-46858C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580624G>C | CA346598767 | SRD5A2 | c.277C>G (p.His93Asp) c.27-46858C>G (n.27-46858C>G) | gnomAD v4 |
2 | g.31580624G= | CA1242221011 | SRD5A2 | c.277C= (p.His93=) c.27-46858C= (n.27-46858C=) | |
2 | g.31580624G>T | CA346598766 | SRD5A2 | c.277C>A (p.His93Asn) c.27-46858C>A (n.27-46858C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580625G>A | CA425626835 | SRD5A2 | c.276C>T (p.Phe92=) c.27-46859C>T (n.27-46859C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580625G>C | CA346598768 | SRD5A2 | c.276C>G (p.Phe92Leu) c.27-46859C>G (n.27-46859C>G) | |
2 | g.31580625G= | CA1242221012 | SRD5A2 | c.276C= (p.Phe92=) c.27-46859C= (n.27-46859C=) | |
2 | g.31580625G>T | CA45142045 | SRD5A2 | c.276C>A (p.Phe92Leu) c.27-46859C>A (n.27-46859C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580626A= | CA1242221013 | SRD5A2 | c.275T= (p.Phe92=) c.27-46860T= (n.27-46860T=) | |
2 | g.31580626A>C | CA346598769 | SRD5A2 | c.275T>G (p.Phe92Cys) c.27-46860T>G (n.27-46860T>G) | |
2 | g.31580626A>G | CA346598770 | SRD5A2 | c.275T>C (p.Phe92Ser) c.27-46860T>C (n.27-46860T>C) | gnomAD v4 |
2 | g.31580626A>T | CA346598771 | SRD5A2 | c.275T>A (p.Phe92Tyr) c.27-46860T>A (n.27-46860T>A) | dbSNP gnomAD v2 |
2 | g.31580627A>C | CA346598772 | SRD5A2 | c.274T>G (p.Phe92Val) c.27-46861T>G (n.27-46861T>G) | |
2 | g.31580627A>G | CA346598773 | SRD5A2 | c.274T>C (p.Phe92Leu) c.27-46861T>C (n.27-46861T>C) | gnomAD v4 |
2 | g.31580627A>T | CA346598774 | SRD5A2 | c.274T>A (p.Phe92Ile) c.27-46861T>A (n.27-46861T>A) | gnomAD v4 |
2 | g.31580628G>A | CA224903 | SRD5A2 | c.273C>T (p.Tyr91=) c.27-46862C>T (n.27-46862C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580628G>C | CA346598775 | SRD5A2 | c.273C>G (p.Tyr91Ter) c.27-46862C>G (n.27-46862C>G) | gnomAD v4 |
2 | g.31580628G= | CA1242221014 | SRD5A2 | c.273C= (p.Tyr91=) c.27-46862C= (n.27-46862C=) | |
2 | g.31580628G>T | CA346598776 | SRD5A2 | c.273C>A (p.Tyr91Ter) c.27-46862C>A (n.27-46862C>A) | gnomAD v4 |
2 | g.31580629T>A | CA346598779 | SRD5A2 | c.272A>T (p.Tyr91Phe) c.27-46863A>T (n.27-46863A>T) | gnomAD v4 |
2 | g.31580629T>C | CA346598778 | SRD5A2 | c.272A>G (p.Tyr91Cys) c.27-46863A>G (n.27-46863A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580629T>G | CA346598777 | SRD5A2 | c.272A>C (p.Tyr91Ser) c.27-46863A>C (n.27-46863A>C) | |
2 | g.31580629T= | CA1242221015 | SRD5A2 | c.272A= (p.Tyr91=) c.27-46863A= (n.27-46863A=) | |
2 | g.31580630A= | CA1242221016 | SRD5A2 | c.271T= (p.Tyr91=) c.27-46864T= (n.27-46864T=) | |
2 | g.31580630A>C | CA1599995 | SRD5A2 | c.271T>G (p.Tyr91Asp) c.27-46864T>G (n.27-46864T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580630A>G | CA1599996 | SRD5A2 | c.271T>C (p.Tyr91His) c.27-46864T>C (n.27-46864T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580630A>T | CA346598780 | SRD5A2 | c.271T>A (p.Tyr91Asn) c.27-46864T>A (n.27-46864T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580631A= | CA1242221017 | SRD5A2 | c.270T= (p.His90=) c.27-46865T= (n.27-46865T=) | |
2 | g.31580631A>C | CA346598781 | SRD5A2 | c.270T>G (p.His90Gln) c.27-46865T>G (n.27-46865T>G) | |
2 | g.31580631A>G | CA1599997 | SRD5A2 | c.270T>C (p.His90=) c.27-46865T>C (n.27-46865T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31580631A>T | CA346598782 | SRD5A2 | c.270T>A (p.His90Gln) c.27-46865T>A (n.27-46865T>A) | |
2 | g.31580632T>A | CA346598783 | SRD5A2 | c.269A>T (p.His90Leu) c.27-46866A>T (n.27-46866A>T) | |
2 | g.31580632T>C | CA346598784 | SRD5A2 | c.269A>G (p.His90Arg) c.27-46866A>G (n.27-46866A>G) | gnomAD v4 |
2 | g.31580632T>G | CA346598785 | SRD5A2 | c.269A>C (p.His90Pro) c.27-46866A>C (n.27-46866A>C) | |
2 | g.31580633G>A | CA346598786 | SRD5A2 | c.268C>T (p.His90Tyr) c.27-46867C>T (n.27-46867C>T) | gnomAD v4 |
2 | g.31580633G>C | CA346598787 | SRD5A2 | c.268C>G (p.His90Asp) c.27-46867C>G (n.27-46867C>G) | gnomAD v4 |
2 | g.31580633G>T | CA346598788 | SRD5A2 | c.268C>A (p.His90Asn) c.27-46867C>A (n.27-46867C>A) | gnomAD v4 |
2 | g.31580634T>A | CA425626868 | SRD5A2 | c.267A>T (p.Leu89=) c.27-46868A>T (n.27-46868A>T) | gnomAD v4 |
2 | g.31580634T>C | CA1599998 | SRD5A2 | c.267A>G (p.Leu89=) c.27-46868A>G (n.27-46868A>G) | dbSNP ExAC gnomAD v2 |
2 | g.31580634T>G | CA425626871 | SRD5A2 | c.267A>C (p.Leu89=) c.27-46868A>C (n.27-46868A>C) | |
2 | g.31580634T= | CA1242221018 | SRD5A2 | c.267A= (p.Leu89=) c.27-46868A= (n.27-46868A=) | |
2 | g.31580634dup | CA2586969042 | SRD5A2 | c.267dup (p.His90ThrfsTer?) c.27-46868dup (n.27-46868dup) | |
2 | g.31580635A= | CA1242221019 | SRD5A2 | c.266T= (p.Leu89=) c.27-46869T= (n.27-46869T=) | |
2 | g.31580635A>C | CA346598789 | SRD5A2 | c.266T>G (p.Leu89Arg) c.27-46869T>G (n.27-46869T>G) | |
2 | g.31580635A>G | CA346598790 | SRD5A2 | c.266T>C (p.Leu89Pro) c.27-46869T>C (n.27-46869T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580635A>T | CA346598791 | SRD5A2 | c.266T>A (p.Leu89Gln) c.27-46869T>A (n.27-46869T>A) | |
2 | g.31580636G>A | CA425626883 | SRD5A2 | c.265C>T (p.Leu89=) c.27-46870C>T (n.27-46870C>T) | dbSNP gnomAD v4 |
2 | g.31580636G>C | CA224901 | SRD5A2 | c.265C>G (p.Leu89Val) c.27-46870C>G (n.27-46870C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580636G= | CA1242221020 | SRD5A2 | c.265C= (p.Leu89=) c.27-46870C= (n.27-46870C=) | |
2 | g.31580636G>T | CA346598792 | SRD5A2 | c.265C>A (p.Leu89Ile) c.27-46870C>A (n.27-46870C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580636_31580637delinsCA | CA2740092818 | SRD5A2 | c.264_265delinsTG (p.Leu89Val) c.27-46871_27-46870delinsTG (n.27-46871_27-46870delinsTG) | ClinVar |
2 | g.31580637G>A | CA425626886 | SRD5A2 | c.264C>T (p.Cys88=) c.27-46871C>T (n.27-46871C>T) | dbSNP gnomAD v4 |
2 | g.31580637G>C | CA10615096 | SRD5A2 | c.264C>G (p.Cys88Trp) c.27-46871C>G (n.27-46871C>G) | ClinVar dbSNP |
2 | g.31580637G= | CA1242221021 | SRD5A2 | c.264C= (p.Cys88=) c.27-46871C= (n.27-46871C=) | |
2 | g.31580637G>T | CA346598793 | SRD5A2 | c.264C>A (p.Cys88Ter) c.27-46871C>A (n.27-46871C>A) | gnomAD v4 |
2 | g.31580638C>A | CA45142046 | SRD5A2 | c.263G>T (p.Cys88Phe) c.27-46872G>T (n.27-46872G>T) | dbSNP gnomAD v4 |
2 | g.31580638C= | CA1242221022 | SRD5A2 | c.263G= (p.Cys88=) c.27-46872G= (n.27-46872G=) | |
2 | g.31580638C>G | CA346598794 | SRD5A2 | c.263G>C (p.Cys88Ser) c.27-46872G>C (n.27-46872G>C) | |
2 | g.31580638C>T | CA45142047 | SRD5A2 | c.263G>A (p.Cys88Tyr) c.27-46872G>A (n.27-46872G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580639A>C | CA346598795 | SRD5A2 | c.262T>G (p.Cys88Gly) c.27-46873T>G (n.27-46873T>G) | |
2 | g.31580639A>G | CA346598796 | SRD5A2 | c.262T>C (p.Cys88Arg) c.27-46873T>C (n.27-46873T>C) | |
2 | g.31580639A>T | CA346598797 | SRD5A2 | c.262T>A (p.Cys88Ser) c.27-46873T>A (n.27-46873T>A) | |
2 | g.31580640G>A | CA425626903 | SRD5A2 | c.261C>T (p.Phe87=) c.27-46874C>T (n.27-46874C>T) | dbSNP |
2 | g.31580640G>C | CA346598798 | SRD5A2 | c.261C>G (p.Phe87Leu) c.27-46874C>G (n.27-46874C>G) | |
2 | g.31580640G= | CA1242221023 | SRD5A2 | c.261C= (p.Phe87=) c.27-46874C= (n.27-46874C=) | |
2 | g.31580640G>T | CA346598799 | SRD5A2 | c.261C>A (p.Phe87Leu) c.27-46874C>A (n.27-46874C>A) | gnomAD v4 |
2 | g.31580641A>C | CA346598800 | SRD5A2 | c.260T>G (p.Phe87Cys) c.27-46875T>G (n.27-46875T>G) | gnomAD v4 |
2 | g.31580641A>G | CA346598801 | SRD5A2 | c.260T>C (p.Phe87Ser) c.27-46875T>C (n.27-46875T>C) | gnomAD v4 |
2 | g.31580641A>T | CA346598802 | SRD5A2 | c.260T>A (p.Phe87Tyr) c.27-46875T>A (n.27-46875T>A) | |
2 | g.31580642A>C | CA346598805 | SRD5A2 | c.259T>G (p.Phe87Val) c.27-46876T>G (n.27-46876T>G) | |
2 | g.31580642A>G | CA346598804 | SRD5A2 | c.259T>C (p.Phe87Leu) c.27-46876T>C (n.27-46876T>C) | |
2 | g.31580642A>T | CA346598803 | SRD5A2 | c.259T>A (p.Phe87Ile) c.27-46876T>A (n.27-46876T>A) | |
2 | g.31580643G>A | CA425626910 | SRD5A2 | c.258C>T (p.Leu86=) c.27-46877C>T (n.27-46877C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.31580643G>C | CA224899 | SRD5A2 | c.258C>G (p.Leu86=) c.27-46877C>G (n.27-46877C>G) | ClinVar dbSNP gnomAD v4 |
2 | g.31580643G= | CA1242221024 | SRD5A2 | c.258C= (p.Leu86=) c.27-46877C= (n.27-46877C=) | |
2 | g.31580643G>T | CA425626911 | SRD5A2 | c.258C>A (p.Leu86=) c.27-46877C>A (n.27-46877C>A) | gnomAD v4 |
2 | g.31580644A= | CA1242221025 | SRD5A2 | c.257T= (p.Leu86=) c.27-46878T= (n.27-46878T=) | |
2 | g.31580644A>C | CA346598806 | SRD5A2 | c.257T>G (p.Leu86Arg) c.27-46878T>G (n.27-46878T>G) | |
2 | g.31580644A>G | CA346598807 | SRD5A2 | c.257T>C (p.Leu86Pro) c.27-46878T>C (n.27-46878T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580644A>T | CA346598808 | SRD5A2 | c.257T>A (p.Leu86His) c.27-46878T>A (n.27-46878T>A) | |
2 | g.31580645G>A | CA346598809 | SRD5A2 | c.256C>T (p.Leu86Phe) c.27-46879C>T (n.27-46879C>T) | gnomAD v4 |
2 | g.31580645G>C | CA1599999 | SRD5A2 | c.256C>G (p.Leu86Val) c.27-46879C>G (n.27-46879C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31580645G= | CA1242221026 | SRD5A2 | c.256C= (p.Leu86=) c.27-46879C= (n.27-46879C=) | |
2 | g.31580645G>T | CA346598810 | SRD5A2 | c.256C>A (p.Leu86Ile) c.27-46879C>A (n.27-46879C>A) | gnomAD v4 |
2 | g.31580646G>A | CA425626925 | SRD5A2 | c.255C>T (p.Gly85=) c.27-46880C>T (n.27-46880C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580646G>C | CA425626930 | SRD5A2 | c.255C>G (p.Gly85=) c.27-46880C>G (n.27-46880C>G) | |
2 | g.31580646G= | CA1242221027 | SRD5A2 | c.255C= (p.Gly85=) c.27-46880C= (n.27-46880C=) | |
2 | g.31580646G>T | CA45142048 | SRD5A2 | c.255C>A (p.Gly85=) c.27-46880C>A (n.27-46880C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580647C>A | CA346598811 | SRD5A2 | c.254G>T (p.Gly85Val) c.27-46881G>T (n.27-46881G>T) | gnomAD v4 |
2 | g.31580647C= | CA1242221028 | SRD5A2 | c.254G= (p.Gly85=) c.27-46881G= (n.27-46881G=) | |
2 | g.31580647C>G | CA346598812 | SRD5A2 | c.254G>C (p.Gly85Ala) c.27-46881G>C (n.27-46881G>C) | |
2 | g.31580647C>T | CA346598813 | SRD5A2 | c.254G>A (p.Gly85Asp) c.27-46881G>A (n.27-46881G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580648C>A | CA346598814 | SRD5A2 | c.253G>T (p.Gly85Cys) c.27-46882G>T (n.27-46882G>T) | gnomAD v4 |
2 | g.31580648C= | CA1242221029 | SRD5A2 | c.253G= (p.Gly85=) c.27-46882G= (n.27-46882G=) | |
2 | g.31580648C>G | CA346598815 | SRD5A2 | c.253G>C (p.Gly85Arg) c.27-46882G>C (n.27-46882G>C) | |
2 | g.31580648C>T | CA1600000 | SRD5A2 | c.253G>A (p.Gly85Ser) c.27-46882G>A (n.27-46882G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31580649C>A | CA425626944 | SRD5A2 | c.252G>T (p.Leu84=) c.27-46883G>T (n.27-46883G>T) | gnomAD v4 |
2 | g.31580649C>G | CA425626945 | SRD5A2 | c.252G>C (p.Leu84=) c.27-46883G>C (n.27-46883G>C) | |
2 | g.31580649C>T | CA425626946 | SRD5A2 | c.252G>A (p.Leu84=) c.27-46883G>A (n.27-46883G>A) | |
2 | g.31580650A>C | CA346598818 | SRD5A2 | c.251T>G (p.Leu84Arg) c.27-46884T>G (n.27-46884T>G) | |
2 | g.31580650A>G | CA346598816 | SRD5A2 | c.251T>C (p.Leu84Pro) c.27-46884T>C (n.27-46884T>C) | |
2 | g.31580650A>T | CA346598817 | SRD5A2 | c.251T>A (p.Leu84Gln) c.27-46884T>A (n.27-46884T>A) | |
2 | g.31580651G>A | CA425626950 | SRD5A2 | c.250C>T (p.Leu84=) c.27-46885C>T (n.27-46885C>T) | |
2 | g.31580651G>C | CA346598819 | SRD5A2 | c.250C>G (p.Leu84Val) c.27-46885C>G (n.27-46885C>G) | |
2 | g.31580651G= | CA1242221030 | SRD5A2 | c.250C= (p.Leu84=) c.27-46885C= (n.27-46885C=) | |
2 | g.31580651G>T | CA1600001 | SRD5A2 | c.250C>A (p.Leu84Met) c.27-46885C>A (n.27-46885C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580652A= | CA1242221031 | SRD5A2 | c.249T= (p.Leu83=) c.27-46886T= (n.27-46886T=) | |
2 | g.31580652A>C | CA45142049 | SRD5A2 | c.249T>G (p.Leu83=) c.27-46886T>G (n.27-46886T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580652A>G | CA425626953 | SRD5A2 | c.249T>C (p.Leu83=) c.27-46886T>C (n.27-46886T>C) | |
2 | g.31580652A>T | CA425626955 | SRD5A2 | c.249T>A (p.Leu83=) c.27-46886T>A (n.27-46886T>A) | |
2 | g.31580652_31580653del | CA2658512705 | SRD5A2 | c.248_249del (p.Leu83ProfsTer?) c.27-46887_27-46886del (n.27-46887_27-46886del) | gnomAD v4 |
2 | g.31580653dup | CA646614596 | SRD5A2 | c.249dup (p.Leu84SerfsTer?) c.27-46886dup (n.27-46886dup) | COSMIC |
2 | g.31580652_31580663delinsAAGTACCGTCCC | CA1242221032 | SRD5A2 | c.238_249delinsGGGACGGTACTT (p.Gly80=) c.27-46897_27-46886delinsGGGACGGTACTT (n.27-46897_27-46886delinsGGGACGGTACTT) | |
2 | g.31580653A>C | CA346598820 | SRD5A2 | c.248T>G (p.Leu83Arg) c.27-46887T>G (n.27-46887T>G) | |
2 | g.31580653A>G | CA346598821 | SRD5A2 | c.248T>C (p.Leu83Pro) c.27-46887T>C (n.27-46887T>C) | |
2 | g.31580653A>T | CA346598822 | SRD5A2 | c.248T>A (p.Leu83His) c.27-46887T>A (n.27-46887T>A) | COSMIC |
2 | g.31580655_31580665del | CA531769321 | SRD5A2 | c.238_248del (p.Gly80SerfsTer?) c.27-46897_27-46887del (n.27-46897_27-46887del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580654G>A | CA346598823 | SRD5A2 | c.247C>T (p.Leu83Phe) c.27-46888C>T (n.27-46888C>T) | |
2 | g.31580654G>C | CA346598824 | SRD5A2 | c.247C>G (p.Leu83Val) c.27-46888C>G (n.27-46888C>G) | |
2 | g.31580654G>T | CA346598825 | SRD5A2 | c.247C>A (p.Leu83Ile) c.27-46888C>A (n.27-46888C>A) | gnomAD v4 |
2 | g.31580655T>A | CA425626963 | SRD5A2 | c.246A>T (p.Val82=) c.27-46889A>T (n.27-46889A>T) | |
2 | g.31580655T>C | CA425626968 | SRD5A2 | c.246A>G (p.Val82=) c.27-46889A>G (n.27-46889A>G) | |
2 | g.31580655T>G | CA425626966 | SRD5A2 | c.246A>C (p.Val82=) c.27-46889A>C (n.27-46889A>C) | dbSNP |
2 | g.31580655T= | CA1242221033 | SRD5A2 | c.246A= (p.Val82=) c.27-46889A= (n.27-46889A=) | |
2 | g.31580656A>C | CA346598826 | SRD5A2 | c.245T>G (p.Val82Gly) c.27-46890T>G (n.27-46890T>G) | |
2 | g.31580656A>G | CA346598827 | SRD5A2 | c.245T>C (p.Val82Ala) c.27-46890T>C (n.27-46890T>C) | |
2 | g.31580656A>T | CA346598828 | SRD5A2 | c.245T>A (p.Val82Glu) c.27-46890T>A (n.27-46890T>A) | |
2 | g.31580657C>A | CA346598831 | SRD5A2 | c.244G>T (p.Val82Leu) c.27-46891G>T (n.27-46891G>T) | gnomAD v4 |
2 | g.31580657C>G | CA346598830 | SRD5A2 | c.244G>C (p.Val82Leu) c.27-46891G>C (n.27-46891G>C) | |
2 | g.31580657C>T | CA346598829 | SRD5A2 | c.244G>A (p.Val82Ile) c.27-46891G>A (n.27-46891G>A) | |
2 | g.31580658C>A | CA1600002 | SRD5A2 | c.243G>T (p.Thr81=) c.27-46892G>T (n.27-46892G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580658C= | CA1242221034 | SRD5A2 | c.243G= (p.Thr81=) c.27-46892G= (n.27-46892G=) | |
2 | g.31580658C>G | CA425626988 | SRD5A2 | c.243G>C (p.Thr81=) c.27-46892G>C (n.27-46892G>C) | gnomAD v4 |
2 | g.31580658C>T | CA425626990 | SRD5A2 | c.243G>A (p.Thr81=) c.27-46892G>A (n.27-46892G>A) | COSMIC |
2 | g.31580659G>A | CA346598834 | SRD5A2 | c.242C>T (p.Thr81Met) c.27-46893C>T (n.27-46893C>T) | dbSNP gnomAD v4 |
2 | g.31580659G>C | CA346598832 | SRD5A2 | c.242C>G (p.Thr81Arg) c.27-46893C>G (n.27-46893C>G) | |
2 | g.31580659G= | CA1242221035 | SRD5A2 | c.242C= (p.Thr81=) c.27-46893C= (n.27-46893C=) | |
2 | g.31580659G>T | CA346598833 | SRD5A2 | c.242C>A (p.Thr81Lys) c.27-46893C>A (n.27-46893C>A) | gnomAD v4 |
2 | g.31580660T>A | CA346598835 | SRD5A2 | c.241A>T (p.Thr81Ser) c.27-46894A>T (n.27-46894A>T) | gnomAD v4 |
2 | g.31580660T>C | CA346598836 | SRD5A2 | c.241A>G (p.Thr81Ala) c.27-46894A>G (n.27-46894A>G) | gnomAD v4 |
2 | g.31580660T>G | CA346598837 | SRD5A2 | c.241A>C (p.Thr81Pro) c.27-46894A>C (n.27-46894A>C) | |
2 | g.31580661C>A | CA425627004 | SRD5A2 | c.240G>T (p.Gly80=) c.27-46895G>T (n.27-46895G>T) | gnomAD v4 |
2 | g.31580661C>G | CA425627006 | SRD5A2 | c.240G>C (p.Gly80=) c.27-46895G>C (n.27-46895G>C) | |
2 | g.31580661C>T | CA425627008 | SRD5A2 | c.240G>A (p.Gly80=) c.27-46895G>A (n.27-46895G>A) | gnomAD v4 |
2 | g.31580661_31580662insA | CA2586969043 | SRD5A2 | c.239_240insT (p.Thr81AspfsTer?) c.27-46896_27-46895insT (n.27-46896_27-46895insT) | |
2 | g.31580662C>A | CA346598840 | SRD5A2 | c.239G>T (p.Gly80Val) c.27-46896G>T (n.27-46896G>T) | gnomAD v4 |
2 | g.31580662C>G | CA346598839 | SRD5A2 | c.239G>C (p.Gly80Ala) c.27-46896G>C (n.27-46896G>C) | |
2 | g.31580662C>T | CA346598838 | SRD5A2 | c.239G>A (p.Gly80Glu) c.27-46896G>A (n.27-46896G>A) | gnomAD v4 |
2 | g.31580663C>A | CA346598841 | SRD5A2 | c.238G>T (p.Gly80Trp) c.27-46897G>T (n.27-46897G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580663C= | CA1242221036 | SRD5A2 | c.238G= (p.Gly80=) c.27-46897G= (n.27-46897G=) | |
2 | g.31580663C>G | CA346598842 | SRD5A2 | c.238G>C (p.Gly80Arg) c.27-46897G>C (n.27-46897G>C) | |
2 | g.31580663C>T | CA346598843 | SRD5A2 | c.238G>A (p.Gly80Arg) c.27-46897G>A (n.27-46897G>A) | gnomAD v4 |
2 | g.31580664A>C | CA425627044 | SRD5A2 | c.237T>G (p.Pro79=) c.27-46898T>G (n.27-46898T>G) | |
2 | g.31580664A>G | CA425627039 | SRD5A2 | c.237T>C (p.Pro79=) c.27-46898T>C (n.27-46898T>C) | |
2 | g.31580664A>T | CA425627034 | SRD5A2 | c.237T>A (p.Pro79=) c.27-46898T>A (n.27-46898T>A) | gnomAD v4 |
2 | g.31580665G>A | CA346598844 | SRD5A2 | c.236C>T (p.Pro79Leu) c.27-46899C>T (n.27-46899C>T) | |
2 | g.31580665G>C | CA346598845 | SRD5A2 | c.236C>G (p.Pro79Arg) c.27-46899C>G (n.27-46899C>G) | |
2 | g.31580665G>T | CA346598846 | SRD5A2 | c.236C>A (p.Pro79His) c.27-46899C>A (n.27-46899C>A) | gnomAD v4 |
2 | g.31580666del | CA2658512706 | SRD5A2 | c.236del (p.Pro79LeufsTer?) c.27-46899del (n.27-46899del) | gnomAD v4 |
2 | g.31580666G>A | CA346598847 | SRD5A2 | c.235C>T (p.Pro79Ser) c.27-46900C>T (n.27-46900C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580666G>C | CA346598849 | SRD5A2 | c.235C>G (p.Pro79Ala) c.27-46900C>G (n.27-46900C>G) | gnomAD v4 |
2 | g.31580666G= | CA1242221037 | SRD5A2 | c.235C= (p.Pro79=) c.27-46900C= (n.27-46900C=) | |
2 | g.31580666G>T | CA346598848 | SRD5A2 | c.235C>A (p.Pro79Thr) c.27-46900C>A (n.27-46900C>A) | dbSNP gnomAD v4 |
2 | g.31580667T>A | CA425627051 | SRD5A2 | c.234A>T (p.Pro78=) c.27-46901A>T (n.27-46901A>T) | |
2 | g.31580667T>C | CA425627052 | SRD5A2 | c.234A>G (p.Pro78=) c.27-46901A>G (n.27-46901A>G) | |
2 | g.31580667T>G | CA425627053 | SRD5A2 | c.234A>C (p.Pro78=) c.27-46901A>C (n.27-46901A>C) | dbSNP gnomAD v2 |
2 | g.31580667T= | CA1242221038 | SRD5A2 | c.234A= (p.Pro78=) c.27-46901A= (n.27-46901A=) | |
2 | g.31580668G>A | CA346598850 | SRD5A2 | c.233C>T (p.Pro78Leu) c.27-46902C>T (n.27-46902C>T) | |
2 | g.31580668G>C | CA346598851 | SRD5A2 | c.233C>G (p.Pro78Arg) c.27-46902C>G (n.27-46902C>G) | |
2 | g.31580668G>T | CA346598852 | SRD5A2 | c.233C>A (p.Pro78Gln) c.27-46902C>A (n.27-46902C>A) | gnomAD v4 |
2 | g.31580669G>A | CA346598853 | SRD5A2 | c.232C>T (p.Pro78Ser) c.27-46903C>T (n.27-46903C>T) | |
2 | g.31580669G>C | CA45142050 | SRD5A2 | c.232C>G (p.Pro78Ala) c.27-46903C>G (n.27-46903C>G) | dbSNP |
2 | g.31580669G= | CA1242221039 | SRD5A2 | c.232C= (p.Pro78=) c.27-46903C= (n.27-46903C=) | |
2 | g.31580669G>T | CA346598854 | SRD5A2 | c.232C>A (p.Pro78Thr) c.27-46903C>A (n.27-46903C>A) | dbSNP gnomAD v4 |
2 | g.31580670C>A | CA425627062 | SRD5A2 | c.231G>T (p.Gly77=) c.27-46904G>T (n.27-46904G>T) | dbSNP gnomAD v4 |
2 | g.31580670C= | CA1242221040 | SRD5A2 | c.231G= (p.Gly77=) c.27-46904G= (n.27-46904G=) | |
2 | g.31580670C>G | CA425627066 | SRD5A2 | c.231G>C (p.Gly77=) c.27-46904G>C (n.27-46904G>C) | |
2 | g.31580670C>T | CA1600003 | SRD5A2 | c.231G>A (p.Gly77=) c.27-46904G>A (n.27-46904G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580671C>A | CA346598855 | SRD5A2 | c.230G>T (p.Gly77Val) c.27-46905G>T (n.27-46905G>T) | gnomAD v4 |
2 | g.31580671C= | CA1242221041 | SRD5A2 | c.230G= (p.Gly77=) c.27-46905G= (n.27-46905G=) | |
2 | g.31580671C>G | CA346598856 | SRD5A2 | c.230G>C (p.Gly77Ala) c.27-46905G>C (n.27-46905G>C) | |
2 | g.31580671C>T | CA10613215 | SRD5A2 | c.230G>A (p.Gly77Glu) c.27-46905G>A (n.27-46905G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.31580671_31580672insT | CA2586969044 | SRD5A2 | c.229_230insA (p.Gly77GlufsTer?) c.27-46906_27-46905insA (n.27-46906_27-46905insA) | |
2 | g.31580672C>A | CA346598858 | SRD5A2 | c.229G>T (p.Gly77Trp) c.27-46906G>T (n.27-46906G>T) | gnomAD v4 |
2 | g.31580672C= | CA1242221042 | SRD5A2 | c.229G= (p.Gly77=) c.27-46906G= (n.27-46906G=) | |
2 | g.31580672C>G | CA1600004 | SRD5A2 | c.229G>C (p.Gly77Arg) c.27-46906G>C (n.27-46906G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31580672C>T | CA346598857 | SRD5A2 | c.229G>A (p.Gly77Arg) c.27-46906G>A (n.27-46906G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580673G>A | CA1600005 | SRD5A2 | c.228C>T (p.Phe76=) c.27-46907C>T (n.27-46907C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31580673G>C | CA346598859 | SRD5A2 | c.228C>G (p.Phe76Leu) c.27-46907C>G (n.27-46907C>G) | |
2 | g.31580673G= | CA1242221043 | SRD5A2 | c.228C= (p.Phe76=) c.27-46907C= (n.27-46907C=) | |
2 | g.31580673G>T | CA346598860 | SRD5A2 | c.228C>A (p.Phe76Leu) c.27-46907C>A (n.27-46907C>A) | gnomAD v4 |
2 | g.31580673_31580684delinsA | CA2586969045 | SRD5A2 | c.217_228delinsT (p.Leu73TrpfsTer?) c.27-46918_27-46907delinsT (n.27-46918_27-46907delinsT) | |
2 | g.31580674A>C | CA346598861 | SRD5A2 | c.227T>G (p.Phe76Cys) c.27-46908T>G (n.27-46908T>G) | |
2 | g.31580674A>G | CA346598862 | SRD5A2 | c.227T>C (p.Phe76Ser) c.27-46908T>C (n.27-46908T>C) | |
2 | g.31580674A>T | CA346598863 | SRD5A2 | c.227T>A (p.Phe76Tyr) c.27-46908T>A (n.27-46908T>A) | |
2 | g.31580675A>C | CA346598864 | SRD5A2 | c.226T>G (p.Phe76Val) c.27-46909T>G (n.27-46909T>G) | |
2 | g.31580675A>G | CA346598865 | SRD5A2 | c.226T>C (p.Phe76Leu) c.27-46909T>C (n.27-46909T>C) | |
2 | g.31580675A>T | CA346598866 | SRD5A2 | c.226T>A (p.Phe76Ile) c.27-46909T>A (n.27-46909T>A) | |
2 | g.31580681_31580686dup | CA2749376898 | SRD5A2 | c.221_226dup (p.Leu75_Phe76insSerLeu) c.27-46914_27-46909dup (n.27-46914_27-46909dup) | |
2 | g.31580676G>A | CA425627096 | SRD5A2 | c.225C>T (p.Leu75=) c.27-46910C>T (n.27-46910C>T) | dbSNP gnomAD v2 |
2 | g.31580676G>C | CA1600006 | SRD5A2 | c.225C>G (p.Leu75=) c.27-46910C>G (n.27-46910C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31580676G= | CA1242221044 | SRD5A2 | c.225C= (p.Leu75=) c.27-46910C= (n.27-46910C=) | |
2 | g.31580676G>T | CA425627098 | SRD5A2 | c.225C>A (p.Leu75=) c.27-46910C>A (n.27-46910C>A) | gnomAD v4 |
2 | g.31580677A>C | CA346598867 | SRD5A2 | c.224T>G (p.Leu75Arg) c.27-46911T>G (n.27-46911T>G) | |
2 | g.31580677A>G | CA346598868 | SRD5A2 | c.224T>C (p.Leu75Pro) c.27-46911T>C (n.27-46911T>C) | |
2 | g.31580677A>T | CA346598869 | SRD5A2 | c.224T>A (p.Leu75His) c.27-46911T>A (n.27-46911T>A) | |
2 | g.31580678G>A | CA346598872 | SRD5A2 | c.223C>T (p.Leu75Phe) c.27-46912C>T (n.27-46912C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580678G>C | CA346598870 | SRD5A2 | c.223C>G (p.Leu75Val) c.27-46912C>G (n.27-46912C>G) | gnomAD v4 |
2 | g.31580678G= | CA1242221045 | SRD5A2 | c.223C= (p.Leu75=) c.27-46912C= (n.27-46912C=) | |
2 | g.31580678G>T | CA346598871 | SRD5A2 | c.223C>A (p.Leu75Ile) c.27-46912C>A (n.27-46912C>A) | gnomAD v4 |
2 | g.31580679G>A | CA425627114 | SRD5A2 | c.222C>T (p.Ser74=) c.27-46913C>T (n.27-46913C>T) | dbSNP gnomAD v2 |
2 | g.31580679G>C | CA425627115 | SRD5A2 | c.222C>G (p.Ser74=) c.27-46913C>G (n.27-46913C>G) | |
2 | g.31580679G= | CA1242221046 | SRD5A2 | c.222C= (p.Ser74=) c.27-46913C= (n.27-46913C=) | |
2 | g.31580679G>T | CA425627116 | SRD5A2 | c.222C>A (p.Ser74=) c.27-46913C>A (n.27-46913C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580680G>A | CA346598873 | SRD5A2 | c.221C>T (p.Ser74Phe) c.27-46914C>T (n.27-46914C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580680G>C | CA346598874 | SRD5A2 | c.221C>G (p.Ser74Cys) c.27-46914C>G (n.27-46914C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580680G= | CA1242221047 | SRD5A2 | c.221C= (p.Ser74=) c.27-46914C= (n.27-46914C=) | |
2 | g.31580680G>T | CA346598875 | SRD5A2 | c.221C>A (p.Ser74Tyr) c.27-46914C>A (n.27-46914C>A) | gnomAD v4 |
2 | g.31580681A>C | CA346598876 | SRD5A2 | c.220T>G (p.Ser74Ala) c.27-46915T>G (n.27-46915T>G) | |
2 | g.31580681A>G | CA346598877 | SRD5A2 | c.220T>C (p.Ser74Pro) c.27-46915T>C (n.27-46915T>C) | |
2 | g.31580681A>T | CA346598878 | SRD5A2 | c.220T>A (p.Ser74Thr) c.27-46915T>A (n.27-46915T>A) | |
2 | g.31580682G>A | CA425627132 | SRD5A2 | c.219C>T (p.Leu73=) c.27-46916C>T (n.27-46916C>T) | gnomAD v4 |
2 | g.31580682G>C | CA425627133 | SRD5A2 | c.219C>G (p.Leu73=) c.27-46916C>G (n.27-46916C>G) | gnomAD v4 |
2 | g.31580682G= | CA1242221048 | SRD5A2 | c.219C= (p.Leu73=) c.27-46916C= (n.27-46916C=) | |
2 | g.31580682G>T | CA425627135 | SRD5A2 | c.219C>A (p.Leu73=) c.27-46916C>A (n.27-46916C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580682_31580683delinsGA | CA1242221049 | SRD5A2 | c.218_219delinsTC (p.Leu73=) c.27-46917_27-46916delinsTC (n.27-46917_27-46916delinsTC) | |
2 | g.31580683del | CA658822360 | SRD5A2 | c.218del (p.Leu73ProfsTer?) c.27-46917del (n.27-46917del) | ClinVar dbSNP |
2 | g.31580683A= | CA1242221050 | SRD5A2 | c.218T= (p.Leu73=) c.27-46917T= (n.27-46917T=) | |
2 | g.31580683A>C | CA346598879 | SRD5A2 | c.218T>G (p.Leu73Arg) c.27-46917T>G (n.27-46917T>G) | |
2 | g.31580683A>G | CA346598880 | SRD5A2 | c.218T>C (p.Leu73Pro) c.27-46917T>C (n.27-46917T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580683A>T | CA346598881 | SRD5A2 | c.218T>A (p.Leu73His) c.27-46917T>A (n.27-46917T>A) | |
2 | g.31580684G>A | CA346598882 | SRD5A2 | c.217C>T (p.Leu73Phe) c.27-46918C>T (n.27-46918C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580684G>C | CA346598883 | SRD5A2 | c.217C>G (p.Leu73Val) c.27-46918C>G (n.27-46918C>G) | |
2 | g.31580684G= | CA1242221051 | SRD5A2 | c.217C= (p.Leu73=) c.27-46918C= (n.27-46918C=) | |
2 | g.31580684G>T | CA346598884 | SRD5A2 | c.217C>A (p.Leu73Ile) c.27-46918C>A (n.27-46918C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580687dup | CA2586969046 | SRD5A2 | c.217dup (p.Leu73ProfsTer?) c.27-46918dup (n.27-46918dup) | |
2 | g.31580687del | CA2830782450 | SRD5A2 | c.217del (p.Leu73SerfsTer?) c.27-46918del (n.27-46918del) | |
2 | g.31580686_31580687del | CA2658512707 | SRD5A2 | c.216_217del (p.Ser74ProfsTer?) c.27-46919_27-46918del (n.27-46919_27-46918del) | gnomAD v4 |
2 | g.31580685G>A | CA425627141 | SRD5A2 | c.216C>T (p.Pro72=) c.27-46919C>T (n.27-46919C>T) | gnomAD v4 |
2 | g.31580685G>C | CA425627143 | SRD5A2 | c.216C>G (p.Pro72=) c.27-46919C>G (n.27-46919C>G) | |
2 | g.31580685G>T | CA425627142 | SRD5A2 | c.216C>A (p.Pro72=) c.27-46919C>A (n.27-46919C>A) | gnomAD v4 |
2 | g.31580686G>A | CA346598887 | SRD5A2 | c.215C>T (p.Pro72Leu) c.27-46920C>T (n.27-46920C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580686G>C | CA346598886 | SRD5A2 | c.215C>G (p.Pro72Arg) c.27-46920C>G (n.27-46920C>G) | dbSNP |
2 | g.31580686G= | CA1242221052 | SRD5A2 | c.215C= (p.Pro72=) c.27-46920C= (n.27-46920C=) | |
2 | g.31580686G>T | CA346598885 | SRD5A2 | c.215C>A (p.Pro72His) c.27-46920C>A (n.27-46920C>A) | |
2 | g.31580687G>A | CA224897 | SRD5A2 | c.214C>T (p.Pro72Ser) c.27-46921C>T (n.27-46921C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.31580687G>C | CA346598888 | SRD5A2 | c.214C>G (p.Pro72Ala) c.27-46921C>G (n.27-46921C>G) | |
2 | g.31580687G= | CA1242221053 | SRD5A2 | c.214C= (p.Pro72=) c.27-46921C= (n.27-46921C=) | |
2 | g.31580687G>T | CA346598889 | SRD5A2 | c.214C>A (p.Pro72Thr) c.27-46921C>A (n.27-46921C>A) | |
2 | g.31580687_31580688insTCC | CA2658512708 | SRD5A2 | c.213_214insGGA (p.Gln71_Pro72insGly) c.27-46922_27-46921insGGA (n.27-46922_27-46921insGGA) | gnomAD v4 |
2 | g.31580688C>A | CA346598890 | SRD5A2 | c.213G>T (p.Gln71His) c.27-46922G>T (n.27-46922G>T) | gnomAD v4 |
2 | g.31580688C= | CA1242221054 | SRD5A2 | c.213G= (p.Gln71=) c.27-46922G= (n.27-46922G=) | |
2 | g.31580688C>G | CA346598891 | SRD5A2 | c.213G>C (p.Gln71His) c.27-46922G>C (n.27-46922G>C) | |
2 | g.31580688C>T | CA425627155 | SRD5A2 | c.213G>A (p.Gln71=) c.27-46922G>A (n.27-46922G>A) | dbSNP gnomAD v4 |
2 | g.31580689T>A | CA346598892 | SRD5A2 | c.212A>T (p.Gln71Leu) c.27-46923A>T (n.27-46923A>T) | |
2 | g.31580689T>C | CA346598893 | SRD5A2 | c.212A>G (p.Gln71Arg) c.27-46923A>G (n.27-46923A>G) | |
2 | g.31580689T>G | CA346598894 | SRD5A2 | c.212A>C (p.Gln71Pro) c.27-46923A>C (n.27-46923A>C) | |
2 | g.31580690G>A | CA16609845 | SRD5A2 | c.211C>T (p.Gln71Ter) c.27-46924C>T (n.27-46924C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580690G>C | CA346598895 | SRD5A2 | c.211C>G (p.Gln71Glu) c.27-46924C>G (n.27-46924C>G) | |
2 | g.31580690G= | CA1242221055 | SRD5A2 | c.211C= (p.Gln71=) c.27-46924C= (n.27-46924C=) | |
2 | g.31580690G>T | CA346598896 | SRD5A2 | c.211C>A (p.Gln71Lys) c.27-46924C>A (n.27-46924C>A) | gnomAD v4 |
2 | g.31580690_31580691insTT | CA2658512709 | SRD5A2 | c.210_211insAA (p.Gln71AsnfsTer?) c.27-46925_27-46924insAA (n.27-46925_27-46924insAA) | gnomAD v4 |
2 | g.31580691C>A | CA425627161 | SRD5A2 | c.210G>T (p.Arg70=) c.27-46925G>T (n.27-46925G>T) | gnomAD v4 |
2 | g.31580691C= | CA1242221056 | SRD5A2 | c.210G= (p.Arg70=) c.27-46925G= (n.27-46925G=) | |
2 | g.31580691C>G | CA425627163 | SRD5A2 | c.210G>C (p.Arg70=) c.27-46925G>C (n.27-46925G>C) | |
2 | g.31580691C>T | CA224895 | SRD5A2 | c.210G>A (p.Arg70=) c.27-46925G>A (n.27-46925G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580692C>A | CA346598897 | SRD5A2 | c.209G>T (p.Arg70Leu) c.27-46926G>T (n.27-46926G>T) | gnomAD v4 |
2 | g.31580692C= | CA1242221057 | SRD5A2 | c.209G= (p.Arg70=) c.27-46926G= (n.27-46926G=) | |
2 | g.31580692C>G | CA346598898 | SRD5A2 | c.209G>C (p.Arg70Pro) c.27-46926G>C (n.27-46926G>C) | |
2 | g.31580692C>T | CA224893 | SRD5A2 | c.209G>A (p.Arg70Gln) c.27-46926G>A (n.27-46926G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.31580693G>A | CA1600007 | SRD5A2 | c.208C>T (p.Arg70Trp) c.27-46927C>T (n.27-46927C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580693G>C | CA346598899 | SRD5A2 | c.208C>G (p.Arg70Gly) c.27-46927C>G (n.27-46927C>G) | |
2 | g.31580693G= | CA1242221058 | SRD5A2 | c.208C= (p.Arg70=) c.27-46927C= (n.27-46927C=) | |
2 | g.31580693G>T | CA425627171 | SRD5A2 | c.208C>A (p.Arg70=) c.27-46927C>A (n.27-46927C>A) | gnomAD v4 |
2 | g.31580695del | CA2658512710 | SRD5A2 | c.208del (p.Arg70GlyfsTer?) c.27-46927del (n.27-46927del) | gnomAD v4 |
2 | g.31580694G>A | CA224891 | SRD5A2 | c.207C>T (p.Ala69=) c.27-46928C>T (n.27-46928C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.31580694G>C | CA425627175 | SRD5A2 | c.207C>G (p.Ala69=) c.27-46928C>G (n.27-46928C>G) | |
2 | g.31580694G= | CA1242221059 | SRD5A2 | c.207C= (p.Ala69=) c.27-46928C= (n.27-46928C=) | |
2 | g.31580694G>T | CA425627176 | SRD5A2 | c.207C>A (p.Ala69=) c.27-46928C>A (n.27-46928C>A) | |
2 | g.31580695G>A | CA346598900 | SRD5A2 | c.206C>T (p.Ala69Val) c.27-46929C>T (n.27-46929C>T) | |
2 | g.31580695G>C | CA346598901 | SRD5A2 | c.206C>G (p.Ala69Gly) c.27-46929C>G (n.27-46929C>G) | |
2 | g.31580695G>T | CA346598902 | SRD5A2 | c.206C>A (p.Ala69Asp) c.27-46929C>A (n.27-46929C>A) | gnomAD v4 |
2 | g.31580696C>A | CA346598903 | SRD5A2 | c.205G>T (p.Ala69Ser) c.27-46930G>T (n.27-46930G>T) | ClinVar dbSNP gnomAD v4 |
2 | g.31580696C= | CA1242221060 | SRD5A2 | c.205G= (p.Ala69=) c.27-46930G= (n.27-46930G=) | |
2 | g.31580696C>G | CA346598904 | SRD5A2 | c.205G>C (p.Ala69Pro) c.27-46930G>C (n.27-46930G>C) | |
2 | g.31580696C>T | CA346598905 | SRD5A2 | c.205G>A (p.Ala69Thr) c.27-46930G>A (n.27-46930G>A) | gnomAD v4 |
2 | g.31580697G>A | CA1600008 | SRD5A2 | c.204C>T (p.Leu68=) c.27-46931C>T (n.27-46931C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31580697G>C | CA425627206 | SRD5A2 | c.204C>G (p.Leu68=) c.27-46931C>G (n.27-46931C>G) | |
2 | g.31580697G= | CA1242221061 | SRD5A2 | c.204C= (p.Leu68=) c.27-46931C= (n.27-46931C=) | |
2 | g.31580697G>T | CA1600009 | SRD5A2 | c.204C>A (p.Leu68=) c.27-46931C>A (n.27-46931C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31580698A>C | CA346598906 | SRD5A2 | c.203T>G (p.Leu68Arg) c.27-46932T>G (n.27-46932T>G) | |
2 | g.31580698A>G | CA346598907 | SRD5A2 | c.203T>C (p.Leu68Pro) c.27-46932T>C (n.27-46932T>C) | |
2 | g.31580698A>T | CA346598908 | SRD5A2 | c.203T>A (p.Leu68His) c.27-46932T>A (n.27-46932T>A) | |
2 | g.31580699G>A | CA346598909 | SRD5A2 | c.202C>T (p.Leu68Phe) c.27-46933C>T (n.27-46933C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580699G>C | CA346598910 | SRD5A2 | c.202C>G (p.Leu68Val) c.27-46933C>G (n.27-46933C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580699G= | CA1242221062 | SRD5A2 | c.202C= (p.Leu68=) c.27-46933C= (n.27-46933C=) | |
2 | g.31580699G>T | CA346598911 | SRD5A2 | c.202C>A (p.Leu68Ile) c.27-46933C>A (n.27-46933C>A) | gnomAD v4 |
2 | g.31580700G>A | CA1600010 | SRD5A2 | c.201C>T (p.Ile67=) c.27-46934C>T (n.27-46934C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31580700G>C | CA346598912 | SRD5A2 | c.201C>G (p.Ile67Met) c.27-46934C>G (n.27-46934C>G) | |
2 | g.31580700G= | CA1242221063 | SRD5A2 | c.201C= (p.Ile67=) c.27-46934C= (n.27-46934C=) | |
2 | g.31580700G>T | CA425627221 | SRD5A2 | c.201C>A (p.Ile67=) c.27-46934C>A (n.27-46934C>A) | |
2 | g.31580701A= | CA1242221064 | SRD5A2 | c.200T= (p.Ile67=) c.27-46935T= (n.27-46935T=) | |
2 | g.31580701A>C | CA45142051 | SRD5A2 | c.200T>G (p.Ile67Ser) c.27-46935T>G (n.27-46935T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31580701A>G | CA346598913 | SRD5A2 | c.200T>C (p.Ile67Thr) c.27-46935T>C (n.27-46935T>C) | |
2 | g.31580701A>T | CA346598914 | SRD5A2 | c.200T>A (p.Ile67Asn) c.27-46935T>A (n.27-46935T>A) | |
2 | g.31580702T>A | CA1600011 | SRD5A2 | c.199A>T (p.Ile67Phe) c.27-46936A>T (n.27-46936A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31580702T>C | CA346598915 | SRD5A2 | c.199A>G (p.Ile67Val) c.27-46936A>G (n.27-46936A>G) | |
2 | g.31580702T>G | CA346598916 | SRD5A2 | c.199A>C (p.Ile67Leu) c.27-46936A>C (n.27-46936A>C) | |
2 | g.31580702T= | CA1242221065 | SRD5A2 | c.199A= (p.Ile67=) c.27-46936A= (n.27-46936A=) | |
2 | g.31580703C>A | CA1600012 | SRD5A2 | c.198G>T (p.Gly66=) c.27-46937G>T (n.27-46937G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31580703C= | CA1242221066 | SRD5A2 | c.198G= (p.Gly66=) c.27-46937G= (n.27-46937G=) | |
2 | g.31580703C>G | CA425627229 | SRD5A2 | c.198G>C (p.Gly66=) c.27-46937G>C (n.27-46937G>C) | gnomAD v4 |
2 | g.31580703C>T | CA425627230 | SRD5A2 | c.198G>A (p.Gly66=) c.27-46937G>A (n.27-46937G>A) | |
2 | g.31580706del | CA2658512711 | SRD5A2 | c.198del (p.Ile67SerfsTer?) c.27-46937del (n.27-46937del) | gnomAD v4 |
2 | g.31580704_31580712del | CA2658512712 | SRD5A2 | c.190_198del (p.Pro64_Gly66del) c.27-46945_27-46937del (n.27-46945_27-46937del) | gnomAD v4 |
2 | g.31580704C>A | CA346598917 | SRD5A2 | c.197G>T (p.Gly66Val) c.27-46938G>T (n.27-46938G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31580704C= | CA1242221067 | SRD5A2 | c.197G= (p.Gly66=) c.27-46938G= (n.27-46938G=) | |
2 | g.31580704C>G | CA346598918 | SRD5A2 | c.197G>C (p.Gly66Ala) c.27-46938G>C (n.27-46938G>C) | |
2 | g.31580704C>T | CA346598919 | SRD5A2 | c.197G>A (p.Gly66Glu) c.27-46938G>A (n.27-46938G>A) | COSMIC |
2 | g.31580705C>A | CA346598920 | SRD5A2 | c.196G>T (p.Gly66Trp) c.27-46939G>T (n.27-46939G>T) | gnomAD v4 |
2 | g.31580705C= | CA1242221068 | SRD5A2 | c.196G= (p.Gly66=) c.27-46939G= (n.27-46939G=) | |
2 | g.31580705C>G | CA346598921 | SRD5A2 | c.196G>C (p.Gly66Arg) c.27-46939G>C (n.27-46939G>C) | |
2 | g.31580705C>T | CA1600013 | SRD5A2 | c.196G>A (p.Gly66Arg) c.27-46939G>A (n.27-46939G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |