Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31526164_31526165delCA2576929359SRD5A2c.*33_*34del (n.*33_*34del)
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
2g.31526228A>CCA346597745SRD5A2c.733T>G (p.Ser245Ala)
c.511T>G (p.Ser171Ala)
c.478T>G (p.Ser160Ala)
2g.31526228A>GCA346597746SRD5A2c.733T>C (p.Ser245Pro)
c.511T>C (p.Ser171Pro)
c.478T>C (p.Ser160Pro)
2g.31526228A>TCA346597747SRD5A2c.733T>A (p.Ser245Thr)
c.511T>A (p.Ser171Thr)
c.478T>A (p.Ser160Thr)
2g.31526229T>ACA346597748SRD5A2c.732A>T (p.Lys244Asn)
c.510A>T (p.Lys170Asn)
c.477A>T (p.Lys159Asn)
2g.31526229T>CCA425566645SRD5A2c.732A>G (p.Lys244=)
c.510A>G (p.Lys170=)
c.477A>G (p.Lys159=)
2g.31526229T>GCA346597749SRD5A2c.732A>C (p.Lys244Asn)
c.510A>C (p.Lys170Asn)
c.477A>C (p.Lys159Asn)
2g.31526230T>ACA346597750SRD5A2c.731A>T (p.Lys244Ile)
c.509A>T (p.Lys170Ile)
c.476A>T (p.Lys159Ile)
2g.31526230T>CCA346597751SRD5A2c.731A>G (p.Lys244Arg)
c.509A>G (p.Lys170Arg)
c.476A>G (p.Lys159Arg)
2g.31526230T>GCA346597752SRD5A2c.731A>C (p.Lys244Thr)
c.509A>C (p.Lys170Thr)
c.476A>C (p.Lys159Thr)
2g.31526231T>ACA346597753SRD5A2c.730A>T (p.Lys244Ter)
c.508A>T (p.Lys170Ter)
c.475A>T (p.Lys159Ter)
dbSNP
2g.31526231T>CCA346597754SRD5A2c.730A>G (p.Lys244Glu)
c.508A>G (p.Lys170Glu)
c.475A>G (p.Lys159Glu)
dbSNP gnomAD v2 gnomAD v4
2g.31526231T>GCA346597755SRD5A2c.730A>C (p.Lys244Gln)
c.508A>C (p.Lys170Gln)
c.475A>C (p.Lys159Gln)
2g.31526231T=CA1242195947SRD5A2c.730A= (p.Lys244=)
c.508A= (p.Lys170=)
c.475A= (p.Lys159=)
2g.31526231_31526232delinsTGCA1242195948SRD5A2c.729_730delinsCA (p.Pro243=)
c.507_508delinsCA (p.Pro169=)
c.474_475delinsCA (p.Pro158=)
2g.31526232G>ACA425566646SRD5A2c.729C>T (p.Pro243=)
c.507C>T (p.Pro169=)
c.474C>T (p.Pro158=)
dbSNP gnomAD v3 gnomAD v4
2g.31526232G>CCA425566647SRD5A2c.729C>G (p.Pro243=)
c.507C>G (p.Pro169=)
c.474C>G (p.Pro158=)
2g.31526232G=CA1242195949SRD5A2c.729C= (p.Pro243=)
c.507C= (p.Pro169=)
c.474C= (p.Pro158=)
2g.31526232G>TCA425566648SRD5A2c.729C>A (p.Pro243=)
c.507C>A (p.Pro169=)
c.474C>A (p.Pro158=)
gnomAD v4
2g.31526235delCA658823245SRD5A2c.729del (p.Lys244AsnfsTer?)
c.507del (p.Lys170AsnfsTer?)
c.474del (p.Lys159AsnfsTer?)
ClinVar dbSNP
2g.31526233G>ACA346597757SRD5A2c.728C>T (p.Pro243Leu)
c.506C>T (p.Pro169Leu)
c.473C>T (p.Pro158Leu)
gnomAD v4
2g.31526233G>CCA45135975SRD5A2c.728C>G (p.Pro243Arg)
c.506C>G (p.Pro169Arg)
c.473C>G (p.Pro158Arg)
dbSNP gnomAD v3 gnomAD v4
2g.31526233G=CA1242195950SRD5A2c.728C= (p.Pro243=)
c.506C= (p.Pro169=)
c.473C= (p.Pro158=)
2g.31526233G>TCA346597756SRD5A2c.728C>A (p.Pro243His)
c.506C>A (p.Pro169His)
c.473C>A (p.Pro158His)
gnomAD v4
2g.31526234G>ACA346597758SRD5A2c.727C>T (p.Pro243Ser)
c.505C>T (p.Pro169Ser)
c.472C>T (p.Pro158Ser)
gnomAD v4
2g.31526234G>CCA346597759SRD5A2c.727C>G (p.Pro243Ala)
c.505C>G (p.Pro169Ala)
c.472C>G (p.Pro158Ala)
2g.31526234G=CA1242195951SRD5A2c.727C= (p.Pro243=)
c.505C= (p.Pro169=)
c.472C= (p.Pro158=)
2g.31526234G>TCA346597760SRD5A2c.727C>A (p.Pro243Thr)
c.505C>A (p.Pro169Thr)
c.472C>A (p.Pro158Thr)
gnomAD v4
2g.31526239_31526259dupCA531769396SRD5A2c.707_727dup (p.Tyr242_Pro243insLeuLysMetPheGluAspTyr)
c.485_505dup (p.Tyr168_Pro169insLeuLysMetPheGluAspTyr)
c.452_472dup (p.Tyr157_Pro158insLeuLysMetPheGluAspTyr)
dbSNP gnomAD v2 gnomAD v4
2g.31526235G>ACA425566649SRD5A2c.726C>T (p.Tyr242=)
c.504C>T (p.Tyr168=)
c.471C>T (p.Tyr157=)
gnomAD v4
2g.31526235G>CCA346597761SRD5A2c.726C>G (p.Tyr242Ter)
c.504C>G (p.Tyr168Ter)
c.471C>G (p.Tyr157Ter)
2g.31526235G>TCA346597762SRD5A2c.726C>A (p.Tyr242Ter)
c.504C>A (p.Tyr168Ter)
c.471C>A (p.Tyr157Ter)
gnomAD v4
2g.31526235_31526236insATTCTGAGCA1242195952SRD5A2c.726_727insTCAGAATC (p.Pro243SerfsTer?)
c.504_505insTCAGAATC (p.Pro169SerfsTer?)
c.471_472insTCAGAATC (p.Pro158SerfsTer?)
dbSNP
2g.31526236T>ACA346597763SRD5A2c.725A>T (p.Tyr242Phe)
c.503A>T (p.Tyr168Phe)
c.470A>T (p.Tyr157Phe)
2g.31526236T>CCA346597764SRD5A2c.725A>G (p.Tyr242Cys)
c.503A>G (p.Tyr168Cys)
c.470A>G (p.Tyr157Cys)
ClinVar dbSNP gnomAD v4
2g.31526236T>GCA346597765SRD5A2c.725A>C (p.Tyr242Ser)
c.503A>C (p.Tyr168Ser)
c.470A>C (p.Tyr157Ser)
2g.31526236T=CA1242195953SRD5A2c.725A= (p.Tyr242=)
c.503A= (p.Tyr168=)
c.470A= (p.Tyr157=)
2g.31526237A=CA1242195954SRD5A2c.724T= (p.Tyr242=)
c.502T= (p.Tyr168=)
c.469T= (p.Tyr157=)
2g.31526237A>CCA346597766SRD5A2c.724T>G (p.Tyr242Asp)
c.502T>G (p.Tyr168Asp)
c.469T>G (p.Tyr157Asp)
2g.31526237A>GCA346597767SRD5A2c.724T>C (p.Tyr242His)
c.502T>C (p.Tyr168His)
c.469T>C (p.Tyr157His)
dbSNP gnomAD v4
2g.31526237A>TCA346597768SRD5A2c.724T>A (p.Tyr242Asn)
c.502T>A (p.Tyr168Asn)
c.469T>A (p.Tyr157Asn)
2g.31526238G>ACA425566650SRD5A2c.723C>T (p.Asp241=)
c.501C>T (p.Asp167=)
c.468C>T (p.Asp156=)
gnomAD v4
2g.31526238G>CCA346597770SRD5A2c.723C>G (p.Asp241Glu)
c.501C>G (p.Asp167Glu)
c.468C>G (p.Asp156Glu)
gnomAD v4
2g.31526238G>TCA346597769SRD5A2c.723C>A (p.Asp241Glu)
c.501C>A (p.Asp167Glu)
c.468C>A (p.Asp156Glu)
gnomAD v4
2g.31526239T>ACA346597771SRD5A2c.722A>T (p.Asp241Val)
c.500A>T (p.Asp167Val)
c.467A>T (p.Asp156Val)
2g.31526239T>CCA346597772SRD5A2c.722A>G (p.Asp241Gly)
c.500A>G (p.Asp167Gly)
c.467A>G (p.Asp156Gly)
2g.31526239T>GCA346597773SRD5A2c.722A>C (p.Asp241Ala)
c.500A>C (p.Asp167Ala)
c.467A>C (p.Asp156Ala)
2g.31526240C>ACA45135976SRD5A2c.721G>T (p.Asp241Tyr)
c.499G>T (p.Asp167Tyr)
c.466G>T (p.Asp156Tyr)
dbSNP gnomAD v4
2g.31526240C=CA1242195955SRD5A2c.721G= (p.Asp241=)
c.499G= (p.Asp167=)
c.466G= (p.Asp156=)
2g.31526240C>GCA346597774SRD5A2c.721G>C (p.Asp241His)
c.499G>C (p.Asp167His)
c.466G>C (p.Asp156His)
2g.31526240C>TCA346597775SRD5A2c.721G>A (p.Asp241Asn)
c.499G>A (p.Asp167Asn)
c.466G>A (p.Asp156Asn)
gnomAD v4
2g.31526241C>ACA346597776SRD5A2c.720G>T (p.Glu240Asp)
c.498G>T (p.Glu166Asp)
c.465G>T (p.Glu155Asp)
gnomAD v4
2g.31526241C>GCA346597777SRD5A2c.720G>C (p.Glu240Asp)
c.498G>C (p.Glu166Asp)
c.465G>C (p.Glu155Asp)
2g.31526241C>TCA425566651SRD5A2c.720G>A (p.Glu240=)
c.498G>A (p.Glu166=)
c.465G>A (p.Glu155=)
gnomAD v4
2g.31526242T>ACA346597778SRD5A2c.719A>T (p.Glu240Val)
c.497A>T (p.Glu166Val)
c.464A>T (p.Glu155Val)
gnomAD v4
2g.31526242T>CCA346597779SRD5A2c.719A>G (p.Glu240Gly)
c.497A>G (p.Glu166Gly)
c.464A>G (p.Glu155Gly)
gnomAD v4
2g.31526242T>GCA346597780SRD5A2c.719A>C (p.Glu240Ala)
c.497A>C (p.Glu166Ala)
c.464A>C (p.Glu155Ala)
2g.31526243C>ACA346597781SRD5A2c.718G>T (p.Glu240Ter)
c.496G>T (p.Glu166Ter)
c.463G>T (p.Glu155Ter)
gnomAD v4
2g.31526243C>GCA346597782SRD5A2c.718G>C (p.Glu240Gln)
c.496G>C (p.Glu166Gln)
c.463G>C (p.Glu155Gln)
2g.31526243C>TCA346597783SRD5A2c.718G>A (p.Glu240Lys)
c.496G>A (p.Glu166Lys)
c.463G>A (p.Glu155Lys)
gnomAD v4
2g.31526244A>CCA346597784SRD5A2c.717T>G (p.Phe239Leu)
c.495T>G (p.Phe165Leu)
c.462T>G (p.Phe154Leu)
2g.31526244A>GCA425566652SRD5A2c.717T>C (p.Phe239=)
c.495T>C (p.Phe165=)
c.462T>C (p.Phe154=)
2g.31526244A>TCA346597785SRD5A2c.717T>A (p.Phe239Leu)
c.495T>A (p.Phe165Leu)
c.462T>A (p.Phe154Leu)
2g.31526245A=CA1242195956SRD5A2c.716T= (p.Phe239=)
c.494T= (p.Phe165=)
c.461T= (p.Phe154=)
2g.31526245A>CCA346597786SRD5A2c.716T>G (p.Phe239Cys)
c.494T>G (p.Phe165Cys)
c.461T>G (p.Phe154Cys)
gnomAD v4
2g.31526245A>GCA346597787SRD5A2c.716T>C (p.Phe239Ser)
c.494T>C (p.Phe165Ser)
c.461T>C (p.Phe154Ser)
dbSNP gnomAD v2 gnomAD v4
2g.31526245A>TCA346597788SRD5A2c.716T>A (p.Phe239Tyr)
c.494T>A (p.Phe165Tyr)
c.461T>A (p.Phe154Tyr)
2g.31526246A=CA1242195957SRD5A2c.715T= (p.Phe239=)
c.493T= (p.Phe165=)
c.460T= (p.Phe154=)
2g.31526246A>CCA346597789SRD5A2c.715T>G (p.Phe239Val)
c.493T>G (p.Phe165Val)
c.460T>G (p.Phe154Val)
2g.31526246A>GCA346597790SRD5A2c.715T>C (p.Phe239Leu)
c.493T>C (p.Phe165Leu)
c.460T>C (p.Phe154Leu)
dbSNP
2g.31526246A>TCA346597791SRD5A2c.715T>A (p.Phe239Ile)
c.493T>A (p.Phe165Ile)
c.460T>A (p.Phe154Ile)
gnomAD v4
2g.31526247C>ACA346597792SRD5A2c.714G>T (p.Met238Ile)
c.492G>T (p.Met164Ile)
c.459G>T (p.Met153Ile)
gnomAD v4
2g.31526247C>GCA346597793SRD5A2c.714G>C (p.Met238Ile)
c.492G>C (p.Met164Ile)
c.459G>C (p.Met153Ile)
2g.31526247C>TCA346597794SRD5A2c.714G>A (p.Met238Ile)
c.492G>A (p.Met164Ile)
c.459G>A (p.Met153Ile)
gnomAD v4
2g.31526247_31526248insGTTTCA2586968872SRD5A2c.713_714insAAAC (p.Met238IlefsTer4)
c.491_492insAAAC (p.Met164IlefsTer4)
c.458_459insAAAC (p.Met153IlefsTer4)
2g.31526248A>CCA346597795SRD5A2c.713T>G (p.Met238Arg)
c.491T>G (p.Met164Arg)
c.458T>G (p.Met153Arg)
2g.31526248A>GCA346597796SRD5A2c.713T>C (p.Met238Thr)
c.491T>C (p.Met164Thr)
c.458T>C (p.Met153Thr)
2g.31526248A>TCA346597797SRD5A2c.713T>A (p.Met238Lys)
c.491T>A (p.Met164Lys)
c.458T>A (p.Met153Lys)
gnomAD v4
2g.31526249T>ACA346597799SRD5A2c.712A>T (p.Met238Leu)
c.490A>T (p.Met164Leu)
c.457A>T (p.Met153Leu)
2g.31526249T>CCA346597800SRD5A2c.712A>G (p.Met238Val)
c.490A>G (p.Met164Val)
c.457A>G (p.Met153Val)
gnomAD v4
2g.31526249T>GCA346597798SRD5A2c.712A>C (p.Met238Leu)
c.490A>C (p.Met164Leu)
c.457A>C (p.Met153Leu)
2g.31526250C>ACA346597802SRD5A2c.711G>T (p.Lys237Asn)
c.489G>T (p.Lys163Asn)
c.456G>T (p.Lys152Asn)
gnomAD v4
2g.31526250C>GCA346597801SRD5A2c.711G>C (p.Lys237Asn)
c.489G>C (p.Lys163Asn)
c.456G>C (p.Lys152Asn)
COSMIC
2g.31526250C>TCA425566653SRD5A2c.711G>A (p.Lys237=)
c.489G>A (p.Lys163=)
c.456G>A (p.Lys152=)
2g.31526251T>ACA346597803SRD5A2c.710A>T (p.Lys237Met)
c.488A>T (p.Lys163Met)
c.455A>T (p.Lys152Met)
gnomAD v4
2g.31526251T>CCA346597804SRD5A2c.710A>G (p.Lys237Arg)
c.488A>G (p.Lys163Arg)
c.455A>G (p.Lys152Arg)
2g.31526251T>GCA346597805SRD5A2c.710A>C (p.Lys237Thr)
c.488A>C (p.Lys163Thr)
c.455A>C (p.Lys152Thr)
2g.31526252T>ACA346597806SRD5A2c.709A>T (p.Lys237Ter)
c.487A>T (p.Lys163Ter)
c.454A>T (p.Lys152Ter)
gnomAD v4
2g.31526252T>CCA346597807SRD5A2c.709A>G (p.Lys237Glu)
c.487A>G (p.Lys163Glu)
c.454A>G (p.Lys152Glu)
gnomAD v4
2g.31526252T>GCA346597808SRD5A2c.709A>C (p.Lys237Gln)
c.487A>C (p.Lys163Gln)
c.454A>C (p.Lys152Gln)
2g.31526253G>ACA425566654SRD5A2c.708C>T (p.Leu236=)
c.486C>T (p.Leu162=)
c.453C>T (p.Leu151=)
gnomAD v4
2g.31526253G>CCA425566655SRD5A2c.708C>G (p.Leu236=)
c.486C>G (p.Leu162=)
c.453C>G (p.Leu151=)
2g.31526253G>TCA425566656SRD5A2c.708C>A (p.Leu236=)
c.486C>A (p.Leu162=)
c.453C>A (p.Leu151=)
gnomAD v4
2g.31526254A>CCA346597809SRD5A2c.707T>G (p.Leu236Arg)
c.485T>G (p.Leu162Arg)
c.452T>G (p.Leu151Arg)
2g.31526254A>GCA346597810SRD5A2c.707T>C (p.Leu236Pro)
c.485T>C (p.Leu162Pro)
c.452T>C (p.Leu151Pro)
gnomAD v4
2g.31526254A>TCA346597811SRD5A2c.707T>A (p.Leu236His)
c.485T>A (p.Leu162His)
c.452T>A (p.Leu151His)
2g.31526255G>ACA346597812SRD5A2c.706C>T (p.Leu236Phe)
c.484C>T (p.Leu162Phe)
c.451C>T (p.Leu151Phe)
dbSNP gnomAD v4
2g.31526255G>CCA346597813SRD5A2c.706C>G (p.Leu236Val)
c.484C>G (p.Leu162Val)
c.451C>G (p.Leu151Val)
2g.31526255G=CA1242195958SRD5A2c.706C= (p.Leu236=)
c.484C= (p.Leu162=)
c.451C= (p.Leu151=)
2g.31526255G>TCA346597814SRD5A2c.706C>A (p.Leu236Ile)
c.484C>A (p.Leu162Ile)
c.451C>A (p.Leu151Ile)
gnomAD v4
2g.31526256G>ACA1599848SRD5A2c.705C>T (p.Tyr235=)
c.483C>T (p.Tyr161=)
c.450C>T (p.Tyr150=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
2g.31526256G>CCA346597816SRD5A2c.705C>G (p.Tyr235Ter)
c.483C>G (p.Tyr161Ter)
c.450C>G (p.Tyr150Ter)
2g.31526256G=CA1242195959SRD5A2c.705C= (p.Tyr235=)
c.483C= (p.Tyr161=)
c.450C= (p.Tyr150=)
2g.31526256G>TCA346597815SRD5A2c.705C>A (p.Tyr235Ter)
c.483C>A (p.Tyr161Ter)
c.450C>A (p.Tyr150Ter)
gnomAD v4
2g.31526257T>ACA1599849SRD5A2c.704A>T (p.Tyr235Phe)
c.482A>T (p.Tyr161Phe)
c.449A>T (p.Tyr150Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31526257T>CCA346597817SRD5A2c.704A>G (p.Tyr235Cys)
c.482A>G (p.Tyr161Cys)
c.449A>G (p.Tyr150Cys)
2g.31526257T>GCA346597818SRD5A2c.704A>C (p.Tyr235Ser)
c.482A>C (p.Tyr161Ser)
c.449A>C (p.Tyr150Ser)
gnomAD v4
2g.31526257T=CA1242195960SRD5A2c.704A= (p.Tyr235=)
c.482A= (p.Tyr161=)
c.449A= (p.Tyr150=)
2g.31526258A>CCA346597819SRD5A2c.703T>G (p.Tyr235Asp)
c.481T>G (p.Tyr161Asp)
c.448T>G (p.Tyr150Asp)
2g.31526258A>GCA346597820SRD5A2c.703T>C (p.Tyr235His)
c.481T>C (p.Tyr161His)
c.448T>C (p.Tyr150His)
ClinVar gnomAD v4
2g.31526258A>TCA346597821SRD5A2c.703T>A (p.Tyr235Asn)
c.481T>A (p.Tyr161Asn)
c.448T>A (p.Tyr150Asn)
2g.31526259G>ACA425566657SRD5A2c.702C>T (p.Phe234=)
c.480C>T (p.Phe160=)
c.447C>T (p.Phe149=)
2g.31526259G>CCA224922SRD5A2c.702C>G (p.Phe234Leu)
c.480C>G (p.Phe160Leu)
c.447C>G (p.Phe149Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31526259G=CA1242195961SRD5A2c.702C= (p.Phe234=)
c.480C= (p.Phe160=)
c.447C= (p.Phe149=)
2g.31526259G>TCA346597822SRD5A2c.702C>A (p.Phe234Leu)
c.480C>A (p.Phe160Leu)
c.447C>A (p.Phe149Leu)
gnomAD v4
2g.31526260A>CCA346597823SRD5A2c.701T>G (p.Phe234Cys)
c.479T>G (p.Phe160Cys)
c.446T>G (p.Phe149Cys)
2g.31526260A>GCA346597824SRD5A2c.701T>C (p.Phe234Ser)
c.479T>C (p.Phe160Ser)
c.446T>C (p.Phe149Ser)
gnomAD v4
2g.31526260A>TCA346597825SRD5A2c.701T>A (p.Phe234Tyr)
c.479T>A (p.Phe160Tyr)
c.446T>A (p.Phe149Tyr)
2g.31526261A=CA1242195962SRD5A2c.700T= (p.Phe234=)
c.478T= (p.Phe160=)
c.445T= (p.Phe149=)
2g.31526261A>CCA346597827SRD5A2c.700T>G (p.Phe234Val)
c.478T>G (p.Phe160Val)
c.445T>G (p.Phe149Val)
2g.31526261A>GCA346597828SRD5A2c.700T>C (p.Phe234Leu)
c.478T>C (p.Phe160Leu)
c.445T>C (p.Phe149Leu)
dbSNP gnomAD v2
2g.31526261A>TCA346597826SRD5A2c.700T>A (p.Phe234Ile)
c.478T>A (p.Phe160Ile)
c.445T>A (p.Phe149Ile)
2g.31526262C>ACA346597829SRD5A2c.699G>T (p.Arg233Ser)
c.477G>T (p.Arg159Ser)
c.444G>T (p.Arg148Ser)
gnomAD v4
2g.31526262C=CA1242195963SRD5A2c.699G= (p.Arg233=)
c.477G= (p.Arg159=)
c.444G= (p.Arg148=)
2g.31526262C>GCA346597830SRD5A2c.699G>C (p.Arg233Ser)
c.477G>C (p.Arg159Ser)
c.444G>C (p.Arg148Ser)
2g.31526262C>TCA1599850SRD5A2c.699G>A (p.Arg233=)
c.477G>A (p.Arg159=)
c.444G>A (p.Arg148=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31526263delCA2658512522SRD5A2c.699del
c.477del
c.444del
gnomAD v4
2g.31526263C>ACA346597831SRD5A2c.699-1G>T (n.699-1G>T)
c.477-1G>T (n.477-1G>T)
c.444-1G>T (n.444-1G>T)
gnomAD v4
2g.31526263C>GCA346597832SRD5A2c.699-1G>C (n.699-1G>C)
c.477-1G>C (n.477-1G>C)
c.444-1G>C (n.444-1G>C)
2g.31526263C>TCA346597833SRD5A2c.699-1G>A (n.699-1G>A)
c.477-1G>A (n.477-1G>A)
c.444-1G>A (n.444-1G>A)
ClinVar gnomAD v4
2g.31526264T>ACA346597834SRD5A2c.699-2A>T (n.699-2A>T)
c.477-2A>T (n.477-2A>T)
c.444-2A>T (n.444-2A>T)
gnomAD v4
2g.31526264T>CCA45135977SRD5A2c.699-2A>G (n.699-2A>G)
c.477-2A>G (n.477-2A>G)
c.444-2A>G (n.444-2A>G)
dbSNP gnomAD v4
2g.31526264T>GCA346597835SRD5A2c.699-2A>C (n.699-2A>C)
c.477-2A>C (n.477-2A>C)
c.444-2A>C (n.444-2A>C)
gnomAD v4
2g.31526264T=CA1242195964SRD5A2c.699-2A= (n.699-2A=)
c.477-2A= (n.477-2A=)
c.444-2A= (n.444-2A=)

Number of alleles fetched