Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31526127T>ACA425566425SRD5A2c.*69A>T (n.*69A>T)
gnomAD v3 gnomAD v4
2g.31526127T>CCA425566426SRD5A2c.*69A>G (n.*69A>G)
2g.31526127T>GCA425566427SRD5A2c.*69A>C (n.*69A>C)
gnomAD v3 gnomAD v4
2g.31526127_31526129delinsTACCA1242195904SRD5A2c.*67_*69delinsGTA (n.*67_*69delinsGTA)
2g.31526128A>CCA425566428SRD5A2c.*68T>G (n.*68T>G)
2g.31526128A>GCA425566429SRD5A2c.*68T>C (n.*68T>C)
gnomAD v4
2g.31526128A>TCA425566430SRD5A2c.*68T>A (n.*68T>A)
gnomAD v4
2g.31526129_31526130delCA1242195905SRD5A2c.*67_*68del (n.*67_*68del)
dbSNP gnomAD v4
2g.31526129C>ACA425566431SRD5A2c.*67G>T (n.*67G>T)
gnomAD v4
2g.31526129C>GCA425566433SRD5A2c.*67G>C (n.*67G>C)
2g.31526129C>TCA425566432SRD5A2c.*67G>A (n.*67G>A)
gnomAD v3 gnomAD v4
2g.31526130A>CCA425566434SRD5A2c.*66T>G (n.*66T>G)
gnomAD v4
2g.31526130A>GCA425566435SRD5A2c.*66T>C (n.*66T>C)
gnomAD v4
2g.31526130A>TCA425566436SRD5A2c.*66T>A (n.*66T>A)
2g.31526131G>ACA425566437SRD5A2c.*65C>T (n.*65C>T)
dbSNP gnomAD v4
2g.31526131G>CCA425566438SRD5A2c.*65C>G (n.*65C>G)
dbSNP gnomAD v4
2g.31526131G=CA1242195906SRD5A2c.*65C= (n.*65C=)
2g.31526131G>TCA425566439SRD5A2c.*65C>A (n.*65C>A)
2g.31526132T>ACA425566440SRD5A2c.*64A>T (n.*64A>T)
gnomAD v3 gnomAD v4
2g.31526132T>CCA425566441SRD5A2c.*64A>G (n.*64A>G)
2g.31526132T>GCA425566442SRD5A2c.*64A>C (n.*64A>C)
2g.31526133T>ACA425566443SRD5A2c.*63A>T (n.*63A>T)
2g.31526133T>CCA425566444SRD5A2c.*63A>G (n.*63A>G)
2g.31526133T>GCA425566445SRD5A2c.*63A>C (n.*63A>C)
2g.31526134T>ACA425566447SRD5A2c.*62A>T (n.*62A>T)
2g.31526134T>CCA425566448SRD5A2c.*62A>G (n.*62A>G)
2g.31526134T>GCA425566446SRD5A2c.*62A>C (n.*62A>C)
2g.31526135C>ACA425566449SRD5A2c.*61G>T (n.*61G>T)
2g.31526135C>GCA425566450SRD5A2c.*61G>C (n.*61G>C)
gnomAD v3 gnomAD v4
2g.31526135C>TCA425566451SRD5A2c.*61G>A (n.*61G>A)
2g.31526136A>CCA425566452SRD5A2c.*60T>G (n.*60T>G)
2g.31526136A>GCA425566453SRD5A2c.*60T>C (n.*60T>C)
gnomAD v4
2g.31526136A>TCA425566454SRD5A2c.*60T>A (n.*60T>A)
gnomAD v4
2g.31526136dupCA2658512514SRD5A2c.*60dup (n.*60dup)
gnomAD v4
2g.31526137G>ACA425566457SRD5A2c.*59C>T (n.*59C>T)
2g.31526137G>CCA425566456SRD5A2c.*59C>G (n.*59C>G)
2g.31526137G>TCA425566455SRD5A2c.*59C>A (n.*59C>A)
gnomAD v3 gnomAD v4
2g.31526138C>ACA425566458SRD5A2c.*58G>T (n.*58G>T)
gnomAD v4
2g.31526138C>GCA425566459SRD5A2c.*58G>C (n.*58G>C)
2g.31526138C>TCA425566460SRD5A2c.*58G>A (n.*58G>A)
gnomAD v4
2g.31526139A>CCA425566461SRD5A2c.*57T>G (n.*57T>G)
2g.31526139A>GCA425566462SRD5A2c.*57T>C (n.*57T>C)
gnomAD v4
2g.31526139A>TCA425566463SRD5A2c.*57T>A (n.*57T>A)
2g.31526140G>ACA425566464SRD5A2c.*56C>T (n.*56C>T)
2g.31526140G>CCA425566466SRD5A2c.*56C>G (n.*56C>G)
2g.31526140G>TCA425566465SRD5A2c.*56C>A (n.*56C>A)
gnomAD v4
2g.31526141C>ACA425566467SRD5A2c.*55G>T (n.*55G>T)
gnomAD v3 gnomAD v4
2g.31526141C=CA1242195907SRD5A2c.*55G= (n.*55G=)
2g.31526141C>GCA425566468SRD5A2c.*55G>C (n.*55G>C)
2g.31526141C>TCA45135967SRD5A2c.*55G>A (n.*55G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31526142T>ACA425566469SRD5A2c.*54A>T (n.*54A>T)
2g.31526142T>CCA425566470SRD5A2c.*54A>G (n.*54A>G)
gnomAD v4
2g.31526142T>GCA425566471SRD5A2c.*54A>C (n.*54A>C)
2g.31526143T>ACA425566472SRD5A2c.*53A>T (n.*53A>T)
2g.31526143T>CCA425566473SRD5A2c.*53A>G (n.*53A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31526143T>GCA425566474SRD5A2c.*53A>C (n.*53A>C)
2g.31526143T=CA1242195908SRD5A2c.*53A= (n.*53A=)
2g.31526144G>ACA425566475SRD5A2c.*52C>T (n.*52C>T)
gnomAD v4
2g.31526144G>CCA425566476SRD5A2c.*52C>G (n.*52C>G)
dbSNP gnomAD v4
2g.31526144G=CA1242195909SRD5A2c.*52C= (n.*52C=)
2g.31526144G>TCA425566477SRD5A2c.*52C>A (n.*52C>A)
dbSNP gnomAD v3 gnomAD v4
2g.31526145A>CCA425566478SRD5A2c.*51T>G (n.*51T>G)
2g.31526145A>GCA425566480SRD5A2c.*51T>C (n.*51T>C)
2g.31526145A>TCA425566479SRD5A2c.*51T>A (n.*51T>A)
gnomAD v4
2g.31526146C>ACA1599841SRD5A2c.*50G>T (n.*50G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31526146C=CA1242195910SRD5A2c.*50G= (n.*50G=)
2g.31526146C>GCA425566481SRD5A2c.*50G>C (n.*50G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31526146C>TCA425566482SRD5A2c.*50G>A (n.*50G>A)
gnomAD v4
2g.31526147A=CA1242195911SRD5A2c.*49T= (n.*49T=)
2g.31526147A>CCA425566483SRD5A2c.*49T>G (n.*49T>G)
2g.31526147A>GCA1599842SRD5A2c.*49T>C (n.*49T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31526147A>TCA425566484SRD5A2c.*49T>A (n.*49T>A)
2g.31526147dupCA2658512515SRD5A2c.*49dup (n.*49dup)
gnomAD v4
2g.31526148G>ACA425566485SRD5A2c.*48C>T (n.*48C>T)
gnomAD v4
2g.31526148G>CCA425566486SRD5A2c.*48C>G (n.*48C>G)
dbSNP
2g.31526148G=CA1242195912SRD5A2c.*48C= (n.*48C=)
2g.31526148G>TCA425566487SRD5A2c.*48C>A (n.*48C>A)
gnomAD v4
2g.31526149T>ACA425566488SRD5A2c.*47A>T (n.*47A>T)
2g.31526149T>CCA425566489SRD5A2c.*47A>G (n.*47A>G)
dbSNP gnomAD v3 gnomAD v4
2g.31526149T>GCA425566490SRD5A2c.*47A>C (n.*47A>C)
2g.31526149T=CA1242195913SRD5A2c.*47A= (n.*47A=)
2g.31526150T>ACA425566493SRD5A2c.*46A>T (n.*46A>T)
2g.31526150T>CCA425566492SRD5A2c.*46A>G (n.*46A>G)
gnomAD v4
2g.31526150T>GCA425566491SRD5A2c.*46A>C (n.*46A>C)
2g.31526151T>ACA425566494SRD5A2c.*45A>T (n.*45A>T)
2g.31526151T>CCA425566495SRD5A2c.*45A>G (n.*45A>G)
gnomAD v4
2g.31526151T>GCA425566496SRD5A2c.*45A>C (n.*45A>C)
2g.31526152T>ACA425566497SRD5A2c.*44A>T (n.*44A>T)
2g.31526152T>CCA425566498SRD5A2c.*44A>G (n.*44A>G)
2g.31526152T>GCA425566499SRD5A2c.*44A>C (n.*44A>C)
gnomAD v4
2g.31526152_31526158delinsTCATCAGCA1242195914SRD5A2c.*38_*44delinsCTGATGA (n.*38_*44delinsCTGATGA)
2g.31526153C>ACA425566500SRD5A2c.*43G>T (n.*43G>T)
gnomAD v4
2g.31526153C=CA1242195916SRD5A2c.*43G= (n.*43G=)
2g.31526153C>GCA425566501SRD5A2c.*43G>C (n.*43G>C)
dbSNP gnomAD v3 gnomAD v4
2g.31526153C>TCA1599843SRD5A2c.*43G>A (n.*43G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31526156_31526161delCA1242195915SRD5A2c.*38_*43del (n.*38_*43del)
dbSNP
2g.31526154A=CA1242195917SRD5A2c.*42T= (n.*42T=)
2g.31526154A>CCA425566502SRD5A2c.*42T>G (n.*42T>G)
2g.31526154A>GCA425566503SRD5A2c.*42T>C (n.*42T>C)
dbSNP
2g.31526154A>TCA425566504SRD5A2c.*42T>A (n.*42T>A)
2g.31526155T>ACA425566505SRD5A2c.*41A>T (n.*41A>T)
dbSNP gnomAD v4
2g.31526155T>CCA425566506SRD5A2c.*41A>G (n.*41A>G)
gnomAD v4
2g.31526155T>GCA45135968SRD5A2c.*41A>C (n.*41A>C)
dbSNP
2g.31526155T=CA1242195918SRD5A2c.*41A= (n.*41A=)
2g.31526156C>ACA425566507SRD5A2c.*40G>T (n.*40G>T)
gnomAD v4
2g.31526156C>GCA425566509SRD5A2c.*40G>C (n.*40G>C)
gnomAD v4
2g.31526156C>TCA425566508SRD5A2c.*40G>A (n.*40G>A)
gnomAD v4
2g.31526157delCA2658512516SRD5A2c.*39del (n.*39del)
gnomAD v4
2g.31526157A=CA1242195919SRD5A2c.*39T= (n.*39T=)
2g.31526157A>CCA425566510SRD5A2c.*39T>G (n.*39T>G)
2g.31526157A>GCA45135969SRD5A2c.*39T>C (n.*39T>C)
dbSNP
2g.31526157A>TCA425566511SRD5A2c.*39T>A (n.*39T>A)
2g.31526158G>ACA425566512SRD5A2c.*38C>T (n.*38C>T)
gnomAD v4
2g.31526158G>CCA425566513SRD5A2c.*38C>G (n.*38C>G)
dbSNP gnomAD v3 gnomAD v4
2g.31526158G=CA1242195920SRD5A2c.*38C= (n.*38C=)
2g.31526158G>TCA425566514SRD5A2c.*38C>A (n.*38C>A)
gnomAD v4
2g.31526159C>ACA425566515SRD5A2c.*37G>T (n.*37G>T)
gnomAD v4
2g.31526159C>GCA425566516SRD5A2c.*37G>C (n.*37G>C)
2g.31526159C>TCA425566517SRD5A2c.*37G>A (n.*37G>A)
gnomAD v4
2g.31526160A>CCA425566518SRD5A2c.*36T>G (n.*36T>G)
2g.31526160A>GCA425566519SRD5A2c.*36T>C (n.*36T>C)
2g.31526160A>TCA425566520SRD5A2c.*36T>A (n.*36T>A)
2g.31526161T>ACA425566521SRD5A2c.*35A>T (n.*35A>T)
gnomAD v4
2g.31526161T>CCA1599844SRD5A2c.*35A>G (n.*35A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31526161T>GCA425566522SRD5A2c.*35A>C (n.*35A>C)
2g.31526161T=CA1242195921SRD5A2c.*35A= (n.*35A=)
2g.31526162T>ACA425566523SRD5A2c.*34A>T (n.*34A>T)
2g.31526162T>CCA425566525SRD5A2c.*34A>G (n.*34A>G)
2g.31526162T>GCA425566524SRD5A2c.*34A>C (n.*34A>C)
gnomAD v4
2g.31526164_31526165delCA2576929359SRD5A2c.*33_*34del (n.*33_*34del)
2g.31526163G>ACA45135970SRD5A2c.*33C>T (n.*33C>T)
dbSNP gnomAD v2 gnomAD v4
2g.31526163G>CCA425566526SRD5A2c.*33C>G (n.*33C>G)
2g.31526163G=CA1242195922SRD5A2c.*33C= (n.*33C=)
2g.31526163G>TCA425566527SRD5A2c.*33C>A (n.*33C>A)
gnomAD v4
2g.31526164T>ACA425566528SRD5A2c.*32A>T (n.*32A>T)
2g.31526164T>CCA425566529SRD5A2c.*32A>G (n.*32A>G)
gnomAD v4
2g.31526164T>GCA425566530SRD5A2c.*32A>C (n.*32A>C)
2g.31526165G>ACA425566531SRD5A2c.*31C>T (n.*31C>T)
gnomAD v4
2g.31526165G>CCA425566532SRD5A2c.*31C>G (n.*31C>G)
2g.31526165G>TCA425566533SRD5A2c.*31C>A (n.*31C>A)
gnomAD v4
2g.31526167delCA2658512517SRD5A2c.*31del (n.*31del)
gnomAD v4
2g.31526166G>ACA425566536SRD5A2c.*30C>T (n.*30C>T)
gnomAD v4
2g.31526166G>CCA425566535SRD5A2c.*30C>G (n.*30C>G)
2g.31526166G>TCA425566534SRD5A2c.*30C>A (n.*30C>A)
gnomAD v4
2g.31526167G>ACA425566537SRD5A2c.*29C>T (n.*29C>T)
dbSNP gnomAD v2 gnomAD v4
2g.31526167G>CCA425566538SRD5A2c.*29C>G (n.*29C>G)
dbSNP gnomAD v2 gnomAD v4
2g.31526167G=CA1242195923SRD5A2c.*29C= (n.*29C=)
2g.31526167G>TCA425566539SRD5A2c.*29C>A (n.*29C>A)
gnomAD v4
2g.31526168A>CCA425566540SRD5A2c.*28T>G (n.*28T>G)
2g.31526168A>GCA425566541SRD5A2c.*28T>C (n.*28T>C)
gnomAD v4
2g.31526168A>TCA425566542SRD5A2c.*28T>A (n.*28T>A)
gnomAD v4
2g.31526169G>ACA425566543SRD5A2c.*27C>T (n.*27C>T)
gnomAD v4
2g.31526169G>CCA425566544SRD5A2c.*27C>G (n.*27C>G)
2g.31526169G>TCA425566545SRD5A2c.*27C>A (n.*27C>A)
gnomAD v4
2g.31526170C>ACA45135971SRD5A2c.*26G>T (n.*26G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31526170C=CA1242195924SRD5A2c.*26G= (n.*26G=)
2g.31526170C>GCA425566546SRD5A2c.*26G>C (n.*26G>C)
2g.31526170C>TCA425566547SRD5A2c.*26G>A (n.*26G>A)
gnomAD v4
2g.31526171T>ACA425566550SRD5A2c.*25A>T (n.*25A>T)
gnomAD v4
2g.31526171T>CCA425566548SRD5A2c.*25A>G (n.*25A>G)
gnomAD v4
2g.31526171T>GCA425566549SRD5A2c.*25A>C (n.*25A>C)
2g.31526172C>ACA425566551SRD5A2c.*24G>T (n.*24G>T)
2g.31526172C=CA1242195925SRD5A2c.*24G= (n.*24G=)
2g.31526172C>GCA425566552SRD5A2c.*24G>C (n.*24G>C)
gnomAD v4
2g.31526172C>TCA425566553SRD5A2c.*24G>A (n.*24G>A)
dbSNP gnomAD v2 gnomAD v4
2g.31526173T>ACA425566554SRD5A2c.*23A>T (n.*23A>T)
gnomAD v4
2g.31526173T>CCA425566555SRD5A2c.*23A>G (n.*23A>G)
gnomAD v4
2g.31526173T>GCA425566556SRD5A2c.*23A>C (n.*23A>C)
gnomAD v4
2g.31526174G>ACA425566557SRD5A2c.*22C>T (n.*22C>T)
gnomAD v4
2g.31526174G>CCA425566558SRD5A2c.*22C>G (n.*22C>G)
2g.31526174G=CA1242195926SRD5A2c.*22C= (n.*22C=)
2g.31526174G>TCA425566559SRD5A2c.*22C>A (n.*22C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31526175C>ACA425566560SRD5A2c.*21G>T (n.*21G>T)
gnomAD v4
2g.31526175C>GCA425566561SRD5A2c.*21G>C (n.*21G>C)
2g.31526175C>TCA425566562SRD5A2c.*21G>A (n.*21G>A)
gnomAD v4
2g.31526176T>ACA425566564SRD5A2c.*20A>T (n.*20A>T)
2g.31526176T>CCA425566565SRD5A2c.*20A>G (n.*20A>G)
2g.31526176T>GCA425566563SRD5A2c.*20A>C (n.*20A>C)
2g.31526177C>ACA425566566SRD5A2c.*19G>T (n.*19G>T)
gnomAD v4
2g.31526177C=CA1242195927SRD5A2c.*19G= (n.*19G=)
2g.31526177C>GCA425566567SRD5A2c.*19G>C (n.*19G>C)
2g.31526177C>TCA425566568SRD5A2c.*19G>A (n.*19G>A)
dbSNP gnomAD v2 gnomAD v4
2g.31526178C>ACA425566569SRD5A2c.*18G>T (n.*18G>T)
gnomAD v4
2g.31526178C=CA1242195928SRD5A2c.*18G= (n.*18G=)
2g.31526178C>GCA45135972SRD5A2c.*18G>C (n.*18G>C)
dbSNP gnomAD v4
2g.31526178C>TCA425566570SRD5A2c.*18G>A (n.*18G>A)
2g.31526179T>ACA425566573SRD5A2c.*17A>T (n.*17A>T)
2g.31526179T>CCA425566571SRD5A2c.*17A>G (n.*17A>G)
gnomAD v4
2g.31526179T>GCA425566572SRD5A2c.*17A>C (n.*17A>C)
2g.31526183dupCA2749374950SRD5A2c.*17dup (n.*17dup)
2g.31526183delCA2658512518SRD5A2c.*17del (n.*17del)
gnomAD v4
2g.31526180T>ACA425566574SRD5A2c.*16A>T (n.*16A>T)
2g.31526180T>CCA425566575SRD5A2c.*16A>G (n.*16A>G)
2g.31526180T>GCA425566576SRD5A2c.*16A>C (n.*16A>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31526180T=CA1242195929SRD5A2c.*16A= (n.*16A=)
2g.31526181T>ACA425566577SRD5A2c.*15A>T (n.*15A>T)
2g.31526181T>CCA425566578SRD5A2c.*15A>G (n.*15A>G)
dbSNP gnomAD v4
2g.31526181T>GCA425566579SRD5A2c.*15A>C (n.*15A>C)
2g.31526181T=CA1242195930SRD5A2c.*15A= (n.*15A=)
2g.31526182T>ACA425566580SRD5A2c.*14A>T (n.*14A>T)
2g.31526182T>CCA45135973SRD5A2c.*14A>G (n.*14A>G)
dbSNP
2g.31526182T>GCA425566581SRD5A2c.*14A>C (n.*14A>C)
2g.31526182T=CA1242195931SRD5A2c.*14A= (n.*14A=)
2g.31526183T>ACA425566582SRD5A2c.*13A>T (n.*13A>T)
gnomAD v4
2g.31526183T>CCA425566583SRD5A2c.*13A>G (n.*13A>G)
gnomAD v4
2g.31526183T>GCA425566584SRD5A2c.*13A>C (n.*13A>C)
2g.31526184A>CCA425566585SRD5A2c.*12T>G (n.*12T>G)
2g.31526184A>GCA425566586SRD5A2c.*12T>C (n.*12T>C)
2g.31526184A>TCA425566587SRD5A2c.*12T>A (n.*12T>A)
gnomAD v4
2g.31526185A>CCA425566588SRD5A2c.*11T>G (n.*11T>G)
2g.31526185A>GCA425566589SRD5A2c.*11T>C (n.*11T>C)
gnomAD v4
2g.31526185A>TCA425566590SRD5A2c.*11T>A (n.*11T>A)
2g.31526185_31526186delinsATCA1242195932SRD5A2c.*10_*11delinsAT (n.*10_*11delinsAT)
2g.31526186T>ACA425566591SRD5A2c.*10A>T (n.*10A>T)
2g.31526186T>CCA425566592SRD5A2c.*10A>G (n.*10A>G)
gnomAD v4
2g.31526186T>GCA425566593SRD5A2c.*10A>C (n.*10A>C)
2g.31526188delCA531769395SRD5A2c.*10del (n.*10del)
dbSNP gnomAD v2 gnomAD v4
2g.31526187T>ACA425566594SRD5A2c.*9A>T (n.*9A>T)
2g.31526187T>CCA425566596SRD5A2c.*9A>G (n.*9A>G)
dbSNP gnomAD v2 gnomAD v4
2g.31526187T>GCA425566595SRD5A2c.*9A>C (n.*9A>C)
2g.31526187T=CA1242195933SRD5A2c.*9A= (n.*9A=)
2g.31526188T>ACA425566597SRD5A2c.*8A>T (n.*8A>T)
2g.31526188T>CCA425566598SRD5A2c.*8A>G (n.*8A>G)
dbSNP gnomAD v2 gnomAD v4
2g.31526188T>GCA425566599SRD5A2c.*8A>C (n.*8A>C)
2g.31526188T=CA1242195934SRD5A2c.*8A= (n.*8A=)
2g.31526189G>ACA425566600SRD5A2c.*7C>T (n.*7C>T)
gnomAD v4
2g.31526189G>CCA425566601SRD5A2c.*7C>G (n.*7C>G)
gnomAD v4
2g.31526189G>TCA425566602SRD5A2c.*7C>A (n.*7C>A)
gnomAD v4
2g.31526190G>ACA425566603SRD5A2c.*6C>T (n.*6C>T)
gnomAD v4
2g.31526190G>CCA425566604SRD5A2c.*6C>G (n.*6C>G)
2g.31526190G>TCA425566605SRD5A2c.*6C>A (n.*6C>A)
gnomAD v4 COSMIC
2g.31526191T>ACA425566606SRD5A2c.*5A>T (n.*5A>T)
2g.31526191T>CCA425566607SRD5A2c.*5A>G (n.*5A>G)
2g.31526191T>GCA425566608SRD5A2c.*5A>C (n.*5A>C)
2g.31526192delCA2658512519SRD5A2c.*5del (n.*5del)
gnomAD v4
2g.31526192T>ACA425566610SRD5A2c.*4A>T (n.*4A>T)
2g.31526192T>CCA1599845SRD5A2c.*4A>G (n.*4A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31526192T>GCA425566609SRD5A2c.*4A>C (n.*4A>C)
2g.31526192T=CA1242195935SRD5A2c.*4A= (n.*4A=)
2g.31526193C>ACA425566611SRD5A2c.*3G>T (n.*3G>T)
gnomAD v4
2g.31526193C=CA1242195936SRD5A2c.*3G= (n.*3G=)
2g.31526193C>GCA425566612SRD5A2c.*3G>C (n.*3G>C)
dbSNP gnomAD v2
2g.31526193C>TCA425566613SRD5A2c.*3G>A (n.*3G>A)
dbSNP gnomAD v4
2g.31526194C>ACA425566614SRD5A2c.*2G>T (n.*2G>T)
gnomAD v4
2g.31526194C>GCA425566615SRD5A2c.*2G>C (n.*2G>C)
gnomAD v4
2g.31526194C>TCA425566616SRD5A2c.*2G>A (n.*2G>A)
ClinVar gnomAD v4
2g.31526195T>ACA425566617SRD5A2c.*1A>T (n.*1A>T)
gnomAD v4
2g.31526195T>CCA425566618SRD5A2c.*1A>G (n.*1A>G)
gnomAD v4
2g.31526195T>GCA425566619SRD5A2c.*1A>C (n.*1A>C)
dbSNP gnomAD v2 gnomAD v4
2g.31526195T=CA1242195937SRD5A2c.*1A= (n.*1A=)
2g.31526196T>ACA346597678SRD5A2c.765A>T (p.Ter255Tyr)
c.543A>T (p.Ter181Tyr)
c.510A>T (p.Ter170Tyr)
2g.31526196T>CCA425566620SRD5A2c.765A>G (p.Ter255=)
c.543A>G (p.Ter181=)
c.510A>G (p.Ter170=)
gnomAD v4
2g.31526196T>GCA346597679SRD5A2c.765A>C (p.Ter255Tyr)
c.543A>C (p.Ter181Tyr)
c.510A>C (p.Ter170Tyr)
2g.31526197T>ACA346597681SRD5A2c.764A>T (p.Ter255Leu)
c.542A>T (p.Ter181Leu)
c.509A>T (p.Ter170Leu)
gnomAD v4
2g.31526197T>CCA425566621SRD5A2c.764A>G (p.Ter255=)
c.542A>G (p.Ter181=)
c.509A>G (p.Ter170=)
2g.31526197T>GCA346597680SRD5A2c.764A>C (p.Ter255Ser)
c.542A>C (p.Ter181Ser)
c.509A>C (p.Ter170Ser)
dbSNP gnomAD v4
2g.31526197T=CA1242195938SRD5A2c.764A= (p.Ter255=)
c.542A= (p.Ter181=)
c.509A= (p.Ter170=)
2g.31526198A=CA1242195939SRD5A2c.763T= (p.Ter255=)
c.541T= (p.Ter181=)
c.508T= (p.Ter170=)
2g.31526198A>CCA346597682SRD5A2c.763T>G (p.Ter255Glu)
c.541T>G (p.Ter181Glu)
c.508T>G (p.Ter170Glu)
2g.31526198A>GCA346597683SRD5A2c.763T>C (p.Ter255Gln)
c.541T>C (p.Ter181Gln)
c.508T>C (p.Ter170Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31526198A>TCA346597684SRD5A2c.763T>A (p.Ter255Lys)
c.541T>A (p.Ter181Lys)
c.508T>A (p.Ter170Lys)
gnomAD v4
2g.31526201delCA2658512520SRD5A2c.763del (p.Ter255LysextTer24)
c.541del (p.Ter181LysextTer24)
c.508del (p.Ter170LysextTer24)
gnomAD v4
2g.31526199A>CCA346597685SRD5A2c.762T>G (p.Phe254Leu)
c.540T>G (p.Phe180Leu)
c.507T>G (p.Phe169Leu)
2g.31526199A>GCA425566622SRD5A2c.762T>C (p.Phe254=)
c.540T>C (p.Phe180=)
c.507T>C (p.Phe169=)
gnomAD v4
2g.31526199A>TCA346597686SRD5A2c.762T>A (p.Phe254Leu)
c.540T>A (p.Phe180Leu)
c.507T>A (p.Phe169Leu)
2g.31526200A>CCA346597687SRD5A2c.761T>G (p.Phe254Cys)
c.539T>G (p.Phe180Cys)
c.506T>G (p.Phe169Cys)
2g.31526200A>GCA346597688SRD5A2c.761T>C (p.Phe254Ser)
c.539T>C (p.Phe180Ser)
c.506T>C (p.Phe169Ser)
gnomAD v4
2g.31526200A>TCA346597689SRD5A2c.761T>A (p.Phe254Tyr)
c.539T>A (p.Phe180Tyr)
c.506T>A (p.Phe169Tyr)
2g.31526201A>CCA346597690SRD5A2c.760T>G (p.Phe254Val)
c.538T>G (p.Phe180Val)
c.505T>G (p.Phe169Val)
2g.31526201A>GCA346597692SRD5A2c.760T>C (p.Phe254Leu)
c.538T>C (p.Phe180Leu)
c.505T>C (p.Phe169Leu)
gnomAD v4
2g.31526201A>TCA346597691SRD5A2c.760T>A (p.Phe254Ile)
c.538T>A (p.Phe180Ile)
c.505T>A (p.Phe169Ile)
2g.31526202G>ACA425566623SRD5A2c.759C>T (p.Ile253=)
c.537C>T (p.Ile179=)
c.504C>T (p.Ile168=)
2g.31526202G>CCA346597693SRD5A2c.759C>G (p.Ile253Met)
c.537C>G (p.Ile179Met)
c.504C>G (p.Ile168Met)
gnomAD v4
2g.31526202G>TCA425566624SRD5A2c.759C>A (p.Ile253=)
c.537C>A (p.Ile179=)
c.504C>A (p.Ile168=)
gnomAD v4
2g.31526203A>CCA346597694SRD5A2c.758T>G (p.Ile253Ser)
c.536T>G (p.Ile179Ser)
c.503T>G (p.Ile168Ser)
gnomAD v4
2g.31526203A>GCA346597695SRD5A2c.758T>C (p.Ile253Thr)
c.536T>C (p.Ile179Thr)
c.503T>C (p.Ile168Thr)
gnomAD v4
2g.31526203A>TCA346597696SRD5A2c.758T>A (p.Ile253Asn)
c.536T>A (p.Ile179Asn)
c.503T>A (p.Ile168Asn)
gnomAD v4
2g.31526204T>ACA346597697SRD5A2c.757A>T (p.Ile253Phe)
c.535A>T (p.Ile179Phe)
c.502A>T (p.Ile168Phe)
2g.31526204T>CCA346597699SRD5A2c.757A>G (p.Ile253Val)
c.535A>G (p.Ile179Val)
c.502A>G (p.Ile168Val)
gnomAD v4
2g.31526204T>GCA346597698SRD5A2c.757A>C (p.Ile253Leu)
c.535A>C (p.Ile179Leu)
c.502A>C (p.Ile168Leu)
COSMIC
2g.31526205G>ACA425566625SRD5A2c.756C>T (p.Phe252=)
c.534C>T (p.Phe178=)
c.501C>T (p.Phe167=)
2g.31526205G>CCA346597700SRD5A2c.756C>G (p.Phe252Leu)
c.534C>G (p.Phe178Leu)
c.501C>G (p.Phe167Leu)
2g.31526205G>TCA346597701SRD5A2c.756C>A (p.Phe252Leu)
c.534C>A (p.Phe178Leu)
c.501C>A (p.Phe167Leu)
gnomAD v4
2g.31526206A>CCA346597702SRD5A2c.755T>G (p.Phe252Cys)
c.533T>G (p.Phe178Cys)
c.500T>G (p.Phe167Cys)
2g.31526206A>GCA346597703SRD5A2c.755T>C (p.Phe252Ser)
c.533T>C (p.Phe178Ser)
c.500T>C (p.Phe167Ser)
gnomAD v4
2g.31526206A>TCA346597704SRD5A2c.755T>A (p.Phe252Tyr)
c.533T>A (p.Phe178Tyr)
c.500T>A (p.Phe167Tyr)
2g.31526207dupCA2586968870SRD5A2c.755dup (p.Ile253HisfsTer8)
c.533dup (p.Ile179HisfsTer8)
c.500dup (p.Ile168HisfsTer8)
2g.31526207A>CCA346597705SRD5A2c.754T>G (p.Phe252Val)
c.532T>G (p.Phe178Val)
c.499T>G (p.Phe167Val)
2g.31526207A>GCA346597706SRD5A2c.754T>C (p.Phe252Leu)
c.532T>C (p.Phe178Leu)
c.499T>C (p.Phe167Leu)
gnomAD v4
2g.31526207A>TCA346597707SRD5A2c.754T>A (p.Phe252Ile)
c.532T>A (p.Phe178Ile)
c.499T>A (p.Phe167Ile)
gnomAD v4
2g.31526207_31526208delinsATCA1242195940SRD5A2c.753_754delinsAT (p.Pro251=)
c.531_532delinsAT (p.Pro177=)
c.498_499delinsAT (p.Pro166=)
2g.31526208delCA340076SRD5A2c.753del (p.Phe252SerfsTer27)
c.531del (p.Phe178SerfsTer27)
c.498del (p.Phe167SerfsTer27)
ClinVar dbSNP
2g.31526208T>ACA425566628SRD5A2c.753A>T (p.Pro251=)
c.531A>T (p.Pro177=)
c.498A>T (p.Pro166=)
gnomAD v4
2g.31526208T>CCA425566627SRD5A2c.753A>G (p.Pro251=)
c.531A>G (p.Pro177=)
c.498A>G (p.Pro166=)
gnomAD v4
2g.31526208T>GCA425566626SRD5A2c.753A>C (p.Pro251=)
c.531A>C (p.Pro177=)
c.498A>C (p.Pro166=)
2g.31526209G>ACA45135974SRD5A2c.752C>T (p.Pro251Leu)
c.530C>T (p.Pro177Leu)
c.497C>T (p.Pro166Leu)
dbSNP gnomAD v4
2g.31526209G>CCA346597708SRD5A2c.752C>G (p.Pro251Arg)
c.530C>G (p.Pro177Arg)
c.497C>G (p.Pro166Arg)
2g.31526209G=CA1242195941SRD5A2c.752C= (p.Pro251=)
c.530C= (p.Pro177=)
c.497C= (p.Pro166=)
2g.31526209G>TCA346597709SRD5A2c.752C>A (p.Pro251Gln)
c.530C>A (p.Pro177Gln)
c.497C>A (p.Pro166Gln)
2g.31526210G>ACA346597710SRD5A2c.751C>T (p.Pro251Ser)
c.529C>T (p.Pro177Ser)
c.496C>T (p.Pro166Ser)
gnomAD v4
2g.31526210G>CCA346597712SRD5A2c.751C>G (p.Pro251Ala)
c.529C>G (p.Pro177Ala)
c.496C>G (p.Pro166Ala)
2g.31526210G>TCA346597711SRD5A2c.751C>A (p.Pro251Thr)
c.529C>A (p.Pro177Thr)
c.496C>A (p.Pro166Thr)
gnomAD v4
2g.31526211A>CCA346597713SRD5A2c.750T>G (p.Ile250Met)
c.528T>G (p.Ile176Met)
c.495T>G (p.Ile165Met)
2g.31526211A>GCA425566629SRD5A2c.750T>C (p.Ile250=)
c.528T>C (p.Ile176=)
c.495T>C (p.Ile165=)
gnomAD v4
2g.31526211A>TCA425566630SRD5A2c.750T>A (p.Ile250=)
c.528T>A (p.Ile176=)
c.495T>A (p.Ile165=)
gnomAD v4
2g.31526212A=CA1242195942SRD5A2c.749T= (p.Ile250=)
c.527T= (p.Ile176=)
c.494T= (p.Ile165=)
2g.31526212A>CCA346597714SRD5A2c.749T>G (p.Ile250Ser)
c.527T>G (p.Ile176Ser)
c.494T>G (p.Ile165Ser)
2g.31526212A>GCA346597715SRD5A2c.749T>C (p.Ile250Thr)
c.527T>C (p.Ile176Thr)
c.494T>C (p.Ile165Thr)
dbSNP gnomAD v2 gnomAD v4
2g.31526212A>TCA346597716SRD5A2c.749T>A (p.Ile250Asn)
c.527T>A (p.Ile176Asn)
c.494T>A (p.Ile165Asn)
2g.31526213T>ACA346597717SRD5A2c.748A>T (p.Ile250Phe)
c.526A>T (p.Ile176Phe)
c.493A>T (p.Ile165Phe)
2g.31526213T>CCA346597718SRD5A2c.748A>G (p.Ile250Val)
c.526A>G (p.Ile176Val)
c.493A>G (p.Ile165Val)
2g.31526213T>GCA346597719SRD5A2c.748A>C (p.Ile250Leu)
c.526A>C (p.Ile176Leu)
c.493A>C (p.Ile165Leu)
dbSNP gnomAD v2 gnomAD v4
2g.31526213T=CA1242195943SRD5A2c.748A= (p.Ile250=)
c.526A= (p.Ile176=)
c.493A= (p.Ile165=)
2g.31526214A>CCA425566631SRD5A2c.747T>G (p.Leu249=)
c.525T>G (p.Leu175=)
c.492T>G (p.Leu164=)
2g.31526214A>GCA425566633SRD5A2c.747T>C (p.Leu249=)
c.525T>C (p.Leu175=)
c.492T>C (p.Leu164=)
2g.31526214A>TCA425566632SRD5A2c.747T>A (p.Leu249=)
c.525T>A (p.Leu175=)
c.492T>A (p.Leu164=)
ClinVar gnomAD v4
2g.31526215A>CCA346597720SRD5A2c.746T>G (p.Leu249Arg)
c.524T>G (p.Leu175Arg)
c.491T>G (p.Leu164Arg)
gnomAD v4
2g.31526215A>GCA346597721SRD5A2c.746T>C (p.Leu249Pro)
c.524T>C (p.Leu175Pro)
c.491T>C (p.Leu164Pro)
gnomAD v4
2g.31526215A>TCA346597722SRD5A2c.746T>A (p.Leu249His)
c.524T>A (p.Leu175His)
c.491T>A (p.Leu164His)
gnomAD v4
2g.31526216G>ACA346597723SRD5A2c.745C>T (p.Leu249Phe)
c.523C>T (p.Leu175Phe)
c.490C>T (p.Leu164Phe)
gnomAD v4
2g.31526216G>CCA346597724SRD5A2c.745C>G (p.Leu249Val)
c.523C>G (p.Leu175Val)
c.490C>G (p.Leu164Val)
2g.31526216G>TCA346597725SRD5A2c.745C>A (p.Leu249Ile)
c.523C>A (p.Leu175Ile)
c.490C>A (p.Leu164Ile)
gnomAD v4
2g.31526217G>ACA425566634SRD5A2c.744C>T (p.Ala248=)
c.522C>T (p.Ala174=)
c.489C>T (p.Ala163=)
gnomAD v4
2g.31526217G>CCA425566635SRD5A2c.744C>G (p.Ala248=)
c.522C>G (p.Ala174=)
c.489C>G (p.Ala163=)
2g.31526217G>TCA425566636SRD5A2c.744C>A (p.Ala248=)
c.522C>A (p.Ala174=)
c.489C>A (p.Ala163=)
gnomAD v4
2g.31526218G>ACA346597728SRD5A2c.743C>T (p.Ala248Val)
c.521C>T (p.Ala174Val)
c.488C>T (p.Ala163Val)
2g.31526218G>CCA346597726SRD5A2c.743C>G (p.Ala248Gly)
c.521C>G (p.Ala174Gly)
c.488C>G (p.Ala163Gly)
2g.31526218G>TCA346597727SRD5A2c.743C>A (p.Ala248Asp)
c.521C>A (p.Ala174Asp)
c.488C>A (p.Ala163Asp)
ClinVar gnomAD v4
2g.31526219C>ACA346597729SRD5A2c.742G>T (p.Ala248Ser)
c.520G>T (p.Ala174Ser)
c.487G>T (p.Ala163Ser)
gnomAD v4
2g.31526219C>GCA346597730SRD5A2c.742G>C (p.Ala248Pro)
c.520G>C (p.Ala174Pro)
c.487G>C (p.Ala163Pro)
2g.31526219C>TCA346597731SRD5A2c.742G>A (p.Ala248Thr)
c.520G>A (p.Ala174Thr)
c.487G>A (p.Ala163Thr)
gnomAD v4
2g.31526220T>ACA346597732SRD5A2c.741A>T (p.Lys247Asn)
c.519A>T (p.Lys173Asn)
c.486A>T (p.Lys162Asn)
2g.31526220T>CCA425566637SRD5A2c.741A>G (p.Lys247=)
c.519A>G (p.Lys173=)
c.486A>G (p.Lys162=)
2g.31526220T>GCA346597733SRD5A2c.741A>C (p.Lys247Asn)
c.519A>C (p.Lys173Asn)
c.486A>C (p.Lys162Asn)
2g.31526221T>ACA346597734SRD5A2c.740A>T (p.Lys247Ile)
c.518A>T (p.Lys173Ile)
c.485A>T (p.Lys162Ile)
2g.31526221T>CCA346597735SRD5A2c.740A>G (p.Lys247Arg)
c.518A>G (p.Lys173Arg)
c.485A>G (p.Lys162Arg)
gnomAD v4
2g.31526221T>GCA346597736SRD5A2c.740A>C (p.Lys247Thr)
c.518A>C (p.Lys173Thr)
c.485A>C (p.Lys162Thr)
2g.31526222T>ACA346597737SRD5A2c.739A>T (p.Lys247Ter)
c.517A>T (p.Lys173Ter)
c.484A>T (p.Lys162Ter)
gnomAD v4
2g.31526222T>CCA346597738SRD5A2c.739A>G (p.Lys247Glu)
c.517A>G (p.Lys173Glu)
c.484A>G (p.Lys162Glu)
gnomAD v4
2g.31526222T>GCA346597739SRD5A2c.739A>C (p.Lys247Gln)
c.517A>C (p.Lys173Gln)
c.484A>C (p.Lys162Gln)
2g.31526223C>ACA425566638SRD5A2c.738G>T (p.Arg246=)
c.516G>T (p.Arg172=)
c.483G>T (p.Arg161=)
2g.31526223C>GCA425566639SRD5A2c.738G>C (p.Arg246=)
c.516G>C (p.Arg172=)
c.483G>C (p.Arg161=)
2g.31526223C>TCA425566640SRD5A2c.738G>A (p.Arg246=)
c.516G>A (p.Arg172=)
c.483G>A (p.Arg161=)
gnomAD v4
2g.31526224delCA2658512521SRD5A2c.738del (p.Ala248ProfsTer?)
c.516del (p.Ala174ProfsTer?)
c.483del (p.Ala163ProfsTer?)
gnomAD v4
2g.31526224C>ACA346597741SRD5A2c.737G>T (p.Arg246Leu)
c.515G>T (p.Arg172Leu)
c.482G>T (p.Arg161Leu)
gnomAD v4
2g.31526224C=CA1242195944SRD5A2c.737G= (p.Arg246=)
c.515G= (p.Arg172=)
c.482G= (p.Arg161=)
2g.31526224C>GCA346597740SRD5A2c.737G>C (p.Arg246Pro)
c.515G>C (p.Arg172Pro)
c.482G>C (p.Arg161Pro)
gnomAD v4
2g.31526224C>TCA1599846SRD5A2c.737G>A (p.Arg246Gln)
c.515G>A (p.Arg172Gln)
c.482G>A (p.Arg161Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.31526224_31526225insTCA2586968871SRD5A2c.736_737insA (p.Arg246GlnfsTer15)
c.514_515insA (p.Arg172GlnfsTer15)
c.481_482insA (p.Arg161GlnfsTer15)
2g.31526225G>ACA340064SRD5A2c.736C>T (p.Arg246Trp)
c.514C>T (p.Arg172Trp)
c.481C>T (p.Arg161Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31526225G>CCA346597742SRD5A2c.736C>G (p.Arg246Gly)
c.514C>G (p.Arg172Gly)
c.481C>G (p.Arg161Gly)
2g.31526225G=CA1242195945SRD5A2c.736C= (p.Arg246=)
c.514C= (p.Arg172=)
c.481C= (p.Arg161=)
2g.31526225G>TCA425566641SRD5A2c.736C>A (p.Arg246=)
c.514C>A (p.Arg172=)
c.481C>A (p.Arg161=)
gnomAD v4
2g.31526226A>CCA425566642SRD5A2c.735T>G (p.Ser245=)
c.513T>G (p.Ser171=)
c.480T>G (p.Ser160=)
2g.31526226A>GCA425566643SRD5A2c.735T>C (p.Ser245=)
c.513T>C (p.Ser171=)
c.480T>C (p.Ser160=)
gnomAD v4
2g.31526226A>TCA425566644SRD5A2c.735T>A (p.Ser245=)
c.513T>A (p.Ser171=)
c.480T>A (p.Ser160=)
gnomAD v4
2g.31526227G>ACA346597743SRD5A2c.734C>T (p.Ser245Phe)
c.512C>T (p.Ser171Phe)
c.479C>T (p.Ser160Phe)
2g.31526227G>CCA346597744SRD5A2c.734C>G (p.Ser245Cys)
c.512C>G (p.Ser171Cys)
c.479C>G (p.Ser160Cys)
2g.31526227G=CA1242195946SRD5A2c.734C= (p.Ser245=)
c.512C= (p.Ser171=)
c.479C= (p.Ser160=)
2g.31526227G>TCA1599847SRD5A2c.734C>A (p.Ser245Tyr)
c.512C>A (p.Ser171Tyr)
c.479C>A (p.Ser160Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched