Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.31529301_31529302delinsAT | CA1242197359 | SRD5A2 | c.698+5_698+6delinsAT (n.698+5_698+6delinsAT) c.476+5_476+6delinsAT (n.476+5_476+6delinsAT) c.443+5_443+6delinsAT (n.443+5_443+6delinsAT) | |
2 | g.31529302T>A | CA2658498116 | SRD5A2 | c.698+5A>T (n.698+5A>T) c.476+5A>T (n.476+5A>T) c.443+5A>T (n.443+5A>T) | gnomAD v4 |
2 | g.31529302T>C | CA2658498117 | SRD5A2 | c.698+5A>G (n.698+5A>G) c.476+5A>G (n.476+5A>G) c.443+5A>G (n.443+5A>G) | gnomAD v4 |
2 | g.31529304del | CA531711365 | SRD5A2 | c.698+5del (n.698+5del) c.476+5del (n.476+5del) c.443+5del (n.443+5del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31529303T>G | CA531711369 | SRD5A2 | c.698+4A>C (n.698+4A>C) c.476+4A>C (n.476+4A>C) c.443+4A>C (n.443+4A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529303T= | CA1242197360 | SRD5A2 | c.698+4A= (n.698+4A=) c.476+4A= (n.476+4A=) c.443+4A= (n.443+4A=) | |
2 | g.31529305A>C | CA346597836 | SRD5A2 | c.698+2T>G (n.698+2T>G) c.476+2T>G (n.476+2T>G) c.443+2T>G (n.443+2T>G) | |
2 | g.31529305A>G | CA346597837 | SRD5A2 | c.698+2T>C (n.698+2T>C) c.476+2T>C (n.476+2T>C) c.443+2T>C (n.443+2T>C) | gnomAD v4 |
2 | g.31529305A>T | CA346597838 | SRD5A2 | c.698+2T>A (n.698+2T>A) c.476+2T>A (n.476+2T>A) c.443+2T>A (n.443+2T>A) | |
2 | g.31529306C>A | CA1599865 | SRD5A2 | c.698+1G>T (n.698+1G>T) c.476+1G>T (n.476+1G>T) c.443+1G>T (n.443+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529306C= | CA1242197361 | SRD5A2 | c.698+1G= (n.698+1G=) c.476+1G= (n.476+1G=) c.443+1G= (n.443+1G=) | |
2 | g.31529306C>G | CA346597839 | SRD5A2 | c.698+1G>C (n.698+1G>C) c.476+1G>C (n.476+1G>C) c.443+1G>C (n.443+1G>C) | |
2 | g.31529306C>T | CA346597840 | SRD5A2 | c.698+1G>A (n.698+1G>A) c.476+1G>A (n.476+1G>A) c.443+1G>A (n.443+1G>A) | dbSNP |
2 | g.31529307C>A | CA346597841 | SRD5A2 | c.698G>T (p.Arg233Met) c.476G>T (p.Arg159Met) c.443G>T (p.Arg148Met) | COSMIC |
2 | g.31529307C>G | CA346597843 | SRD5A2 | c.698G>C (p.Arg233Thr) c.476G>C (p.Arg159Thr) c.443G>C (p.Arg148Thr) | |
2 | g.31529307C>T | CA346597842 | SRD5A2 | c.698G>A (p.Arg233Lys) c.476G>A (p.Arg159Lys) c.443G>A (p.Arg148Lys) | ClinVar gnomAD v4 |
2 | g.31529308T>A | CA346597844 | SRD5A2 | c.697A>T (p.Arg233Trp) c.475A>T (p.Arg159Trp) c.442A>T (p.Arg148Trp) | |
2 | g.31529308T>C | CA1599866 | SRD5A2 | c.697A>G (p.Arg233Gly) c.475A>G (p.Arg159Gly) c.442A>G (p.Arg148Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529308T>G | CA425567393 | SRD5A2 | c.697A>C (p.Arg233=) c.475A>C (p.Arg159=) c.442A>C (p.Arg148=) | |
2 | g.31529308T= | CA1242197362 | SRD5A2 | c.697A= (p.Arg233=) c.475A= (p.Arg159=) c.442A= (p.Arg148=) | |
2 | g.31529309A= | CA1242197363 | SRD5A2 | c.696T= (p.His232=) c.474T= (p.His158=) c.441T= (p.His147=) | |
2 | g.31529309A>C | CA346597845 | SRD5A2 | c.696T>G (p.His232Gln) c.474T>G (p.His158Gln) c.441T>G (p.His147Gln) | |
2 | g.31529309A>G | CA224920 | SRD5A2 | c.696T>C (p.His232=) c.474T>C (p.His158=) c.441T>C (p.His147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529309A>T | CA346597846 | SRD5A2 | c.696T>A (p.His232Gln) c.474T>A (p.His158Gln) c.441T>A (p.His147Gln) | |
2 | g.31529310T>A | CA1599867 | SRD5A2 | c.695A>T (p.His232Leu) c.473A>T (p.His158Leu) c.440A>T (p.His147Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529310T>C | CA346597847 | SRD5A2 | c.695A>G (p.His232Arg) c.473A>G (p.His158Arg) c.440A>G (p.His147Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529310T>G | CA346597848 | SRD5A2 | c.695A>C (p.His232Pro) c.473A>C (p.His158Pro) c.440A>C (p.His147Pro) | gnomAD v4 |
2 | g.31529310T= | CA1242197364 | SRD5A2 | c.695A= (p.His232=) c.473A= (p.His158=) c.440A= (p.His147=) | |
2 | g.31529311G>A | CA346597849 | SRD5A2 | c.694C>T (p.His232Tyr) c.472C>T (p.His158Tyr) c.439C>T (p.His147Tyr) | |
2 | g.31529311G>C | CA346597850 | SRD5A2 | c.694C>G (p.His232Asp) c.472C>G (p.His158Asp) c.439C>G (p.His147Asp) | ClinVar dbSNP |
2 | g.31529311G= | CA1242197365 | SRD5A2 | c.694C= (p.His232=) c.472C= (p.His158=) c.439C= (p.His147=) | |
2 | g.31529311G>T | CA346597851 | SRD5A2 | c.694C>A (p.His232Asn) c.472C>A (p.His158Asn) c.439C>A (p.His147Asn) | |
2 | g.31529312del | CA2698934705 | SRD5A2 | c.694del (p.His232IlefsTer?) c.472del (p.His158IlefsTer?) c.439del (p.His147IlefsTer?) | dbSNP |
2 | g.31529312G>A | CA425567394 | SRD5A2 | c.693C>T (p.His231=) c.471C>T (p.His157=) c.438C>T (p.His146=) | |
2 | g.31529312G>C | CA346597852 | SRD5A2 | c.693C>G (p.His231Gln) c.471C>G (p.His157Gln) c.438C>G (p.His146Gln) | gnomAD v4 |
2 | g.31529312G>T | CA346597853 | SRD5A2 | c.693C>A (p.His231Gln) c.471C>A (p.His157Gln) c.438C>A (p.His146Gln) | |
2 | g.31529313T>A | CA346597854 | SRD5A2 | c.692A>T (p.His231Leu) c.470A>T (p.His157Leu) c.437A>T (p.His146Leu) | |
2 | g.31529313T>C | CA340081 | SRD5A2 | c.692A>G (p.His231Arg) c.470A>G (p.His157Arg) c.437A>G (p.His146Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529313T>G | CA346597855 | SRD5A2 | c.692A>C (p.His231Pro) c.470A>C (p.His157Pro) c.437A>C (p.His146Pro) | |
2 | g.31529313T= | CA1242197366 | SRD5A2 | c.692A= (p.His231=) c.470A= (p.His157=) c.437A= (p.His146=) | |
2 | g.31529314G>A | CA346597856 | SRD5A2 | c.691C>T (p.His231Tyr) c.469C>T (p.His157Tyr) c.436C>T (p.His146Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.[31529314G>A;31580732C>A] | CA2499306156 | SRD5A2 | c.[169G>T;691C>T] (p.Glu57Ter) c.[27-46966G>T;436C>T] (p.His146Tyr) | ClinVar |
2 | g.31529314G>C | CA346597857 | SRD5A2 | c.691C>G (p.His231Asp) c.469C>G (p.His157Asp) c.436C>G (p.His146Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31529314G= | CA1242197367 | SRD5A2 | c.691C= (p.His231=) c.469C= (p.His157=) c.436C= (p.His146=) | |
2 | g.31529314G>T | CA346597858 | SRD5A2 | c.691C>A (p.His231Asn) c.469C>A (p.His157Asn) c.436C>A (p.His146Asn) | |
2 | g.31529315G>A | CA425567395 | SRD5A2 | c.690C>T (p.His230=) c.468C>T (p.His156=) c.435C>T (p.His145=) | |
2 | g.31529315G>C | CA346597859 | SRD5A2 | c.690C>G (p.His230Gln) c.468C>G (p.His156Gln) c.435C>G (p.His145Gln) | |
2 | g.31529315G>T | CA346597860 | SRD5A2 | c.690C>A (p.His230Gln) c.468C>A (p.His156Gln) c.435C>A (p.His145Gln) | |
2 | g.31529316T>A | CA346597861 | SRD5A2 | c.689A>T (p.His230Leu) c.467A>T (p.His156Leu) c.434A>T (p.His145Leu) | |
2 | g.31529316T>C | CA346597862 | SRD5A2 | c.689A>G (p.His230Arg) c.467A>G (p.His156Arg) c.434A>G (p.His145Arg) |