Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31529294T>CCA45136309SRD5A2c.698+13A>G (n.698+13A>G)
c.476+13A>G (n.476+13A>G)
c.443+13A>G (n.443+13A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.31529294T=CA1242197355SRD5A2c.698+13A= (n.698+13A=)
c.476+13A= (n.476+13A=)
c.443+13A= (n.443+13A=)
2g.31529295T>GCA2576929409SRD5A2c.698+12A>C (n.698+12A>C)
c.476+12A>C (n.476+12A>C)
c.443+12A>C (n.443+12A>C)
2g.31529296G=CA1242197356SRD5A2c.698+11C= (n.698+11C=)
c.476+11C= (n.476+11C=)
c.443+11C= (n.443+11C=)
2g.31529296G>TCA2658498114SRD5A2c.698+11C>A (n.698+11C>A)
c.476+11C>A (n.476+11C>A)
c.443+11C>A (n.443+11C>A)
 gnomAD v4
2g.31529301dupCA1599863SRD5A2c.698+10dup (n.698+10dup)
c.476+10dup (n.476+10dup)
c.443+10dup (n.443+10dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529298A=CA1242197357SRD5A2c.698+9T= (n.698+9T=)
c.476+9T= (n.476+9T=)
c.443+9T= (n.443+9T=)
2g.31529298A>GCA2658498115SRD5A2c.698+9T>C (n.698+9T>C)
c.476+9T>C (n.476+9T>C)
c.443+9T>C (n.443+9T>C)
 gnomAD v4
2g.31529298A>TCA531711358SRD5A2c.698+9T>A (n.698+9T>A)
c.476+9T>A (n.476+9T>A)
c.443+9T>A (n.443+9T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.31529300A=CA1242197358SRD5A2c.698+7T= (n.698+7T=)
c.476+7T= (n.476+7T=)
c.443+7T= (n.443+7T=)
2g.31529300A>CCA1599864SRD5A2c.698+7T>G (n.698+7T>G)
c.476+7T>G (n.476+7T>G)
c.443+7T>G (n.443+7T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529301A>GCA2576929411SRD5A2c.698+6T>C (n.698+6T>C)
c.476+6T>C (n.476+6T>C)
c.443+6T>C (n.443+6T>C)
 gnomAD v4
2g.31529301_31529302delinsATCA1242197359SRD5A2c.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)
2g.31529302T>ACA2658498116SRD5A2c.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
2g.31529302T>CCA2658498117SRD5A2c.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
2g.31529304delCA531711365SRD5A2c.698+5del (n.698+5del)
c.476+5del (n.476+5del)
c.443+5del (n.443+5del)
 dbSNP gnomAD v2 gnomAD v4
2g.31529303T>GCA531711369SRD5A2c.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
2g.31529303T=CA1242197360SRD5A2c.698+4A= (n.698+4A=)
c.476+4A= (n.476+4A=)
c.443+4A= (n.443+4A=)
2g.31529305A>CCA346597836SRD5A2c.698+2T>G (n.698+2T>G)
c.476+2T>G (n.476+2T>G)
c.443+2T>G (n.443+2T>G)
2g.31529305A>GCA346597837SRD5A2c.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
2g.31529305A>TCA346597838SRD5A2c.698+2T>A (n.698+2T>A)
c.476+2T>A (n.476+2T>A)
c.443+2T>A (n.443+2T>A)
2g.31529306C>ACA1599865SRD5A2c.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
2g.31529306C=CA1242197361SRD5A2c.698+1G= (n.698+1G=)
c.476+1G= (n.476+1G=)
c.443+1G= (n.443+1G=)
2g.31529306C>GCA346597839SRD5A2c.698+1G>C (n.698+1G>C)
c.476+1G>C (n.476+1G>C)
c.443+1G>C (n.443+1G>C)
2g.31529306C>TCA346597840SRD5A2c.698+1G>A (n.698+1G>A)
c.476+1G>A (n.476+1G>A)
c.443+1G>A (n.443+1G>A)
 dbSNP
2g.31529307C>ACA346597841SRD5A2c.698G>T (p.Arg233Met)
c.476G>T (p.Arg159Met)
c.443G>T (p.Arg148Met)
 COSMIC
2g.31529307C>GCA346597843SRD5A2c.698G>C (p.Arg233Thr)
c.476G>C (p.Arg159Thr)
c.443G>C (p.Arg148Thr)
2g.31529307C>TCA346597842SRD5A2c.698G>A (p.Arg233Lys)
c.476G>A (p.Arg159Lys)
c.443G>A (p.Arg148Lys)
 ClinVar gnomAD v4
2g.31529308T>ACA346597844SRD5A2c.697A>T (p.Arg233Trp)
c.475A>T (p.Arg159Trp)
c.442A>T (p.Arg148Trp)
2g.31529308T>CCA1599866SRD5A2c.697A>G (p.Arg233Gly)
c.475A>G (p.Arg159Gly)
c.442A>G (p.Arg148Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529308T>GCA425567393SRD5A2c.697A>C (p.Arg233=)
c.475A>C (p.Arg159=)
c.442A>C (p.Arg148=)
2g.31529308T=CA1242197362SRD5A2c.697A= (p.Arg233=)
c.475A= (p.Arg159=)
c.442A= (p.Arg148=)
2g.31529309A=CA1242197363SRD5A2c.696T= (p.His232=)
c.474T= (p.His158=)
c.441T= (p.His147=)
2g.31529309A>CCA346597845SRD5A2c.696T>G (p.His232Gln)
c.474T>G (p.His158Gln)
c.441T>G (p.His147Gln)
2g.31529309A>GCA224920SRD5A2c.696T>C (p.His232=)
c.474T>C (p.His158=)
c.441T>C (p.His147=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529309A>TCA346597846SRD5A2c.696T>A (p.His232Gln)
c.474T>A (p.His158Gln)
c.441T>A (p.His147Gln)
2g.31529310T>ACA1599867SRD5A2c.695A>T (p.His232Leu)
c.473A>T (p.His158Leu)
c.440A>T (p.His147Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31529310T>CCA346597847SRD5A2c.695A>G (p.His232Arg)
c.473A>G (p.His158Arg)
c.440A>G (p.His147Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31529310T>GCA346597848SRD5A2c.695A>C (p.His232Pro)
c.473A>C (p.His158Pro)
c.440A>C (p.His147Pro)
 gnomAD v4
2g.31529310T=CA1242197364SRD5A2c.695A= (p.His232=)
c.473A= (p.His158=)
c.440A= (p.His147=)
2g.31529311G>ACA346597849SRD5A2c.694C>T (p.His232Tyr)
c.472C>T (p.His158Tyr)
c.439C>T (p.His147Tyr)
2g.31529311G>CCA346597850SRD5A2c.694C>G (p.His232Asp)
c.472C>G (p.His158Asp)
c.439C>G (p.His147Asp)
 ClinVar dbSNP
2g.31529311G=CA1242197365SRD5A2c.694C= (p.His232=)
c.472C= (p.His158=)
c.439C= (p.His147=)
2g.31529311G>TCA346597851SRD5A2c.694C>A (p.His232Asn)
c.472C>A (p.His158Asn)
c.439C>A (p.His147Asn)
2g.31529312delCA2698934705SRD5A2c.694del (p.His232IlefsTer?)
c.472del (p.His158IlefsTer?)
c.439del (p.His147IlefsTer?)
 dbSNP
2g.31529312G>ACA425567394SRD5A2c.693C>T (p.His231=)
c.471C>T (p.His157=)
c.438C>T (p.His146=)
2g.31529312G>CCA346597852SRD5A2c.693C>G (p.His231Gln)
c.471C>G (p.His157Gln)
c.438C>G (p.His146Gln)
 gnomAD v4
2g.31529312G>TCA346597853SRD5A2c.693C>A (p.His231Gln)
c.471C>A (p.His157Gln)
c.438C>A (p.His146Gln)
2g.31529313T>ACA346597854SRD5A2c.692A>T (p.His231Leu)
c.470A>T (p.His157Leu)
c.437A>T (p.His146Leu)
2g.31529313T>CCA340081SRD5A2c.692A>G (p.His231Arg)
c.470A>G (p.His157Arg)
c.437A>G (p.His146Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched