Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.124500238C>ACA374885993NR5A1c.722G>T (p.Arg241Leu)
c.74G>T (p.Arg25Leu)
c.461G>T (p.Arg154Leu)
 gnomAD v4
9g.124500238C=CA1878468328NR5A1c.722G= (p.Arg241=)
c.74G= (p.Arg25=)
c.461G= (p.Arg154=)
9g.124500238C>GCA374885996NR5A1c.722G>C (p.Arg241Pro)
c.74G>C (p.Arg25Pro)
c.461G>C (p.Arg154Pro)
9g.124500238C>TCA5235412NR5A1c.722G>A (p.Arg241Gln)
c.74G>A (p.Arg25Gln)
c.461G>A (p.Arg154Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500239G>ACA374886000NR5A1c.721C>T (p.Arg241Trp)
c.73C>T (p.Arg25Trp)
c.460C>T (p.Arg154Trp)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
9g.124500239G>CCA374886002NR5A1c.721C>G (p.Arg241Gly)
c.73C>G (p.Arg25Gly)
c.460C>G (p.Arg154Gly)
 dbSNP
9g.124500239G=CA1878468332NR5A1c.721C= (p.Arg241=)
c.73C= (p.Arg25=)
c.460C= (p.Arg154=)
9g.124500239G>TCA467208186NR5A1c.721C>A (p.Arg241=)
c.73C>A (p.Arg25=)
c.460C>A (p.Arg154=)
9g.124500240C>ACA467208187NR5A1c.720G>T (p.Val240=)
c.72G>T (p.Val24=)
c.459G>T (p.Val153=)
9g.124500240C=CA1878468335NR5A1c.720G= (p.Val240=)
c.72G= (p.Val24=)
c.459G= (p.Val153=)
9g.124500240C>GCA467208189NR5A1c.720G>C (p.Val240=)
c.72G>C (p.Val24=)
c.459G>C (p.Val153=)
 gnomAD v4
9g.124500240C>TCA5235413NR5A1c.720G>A (p.Val240=)
c.72G>A (p.Val24=)
c.459G>A (p.Val153=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500241A=CA1878468339NR5A1c.719T= (p.Val240=)
c.71T= (p.Val24=)
c.458T= (p.Val153=)
9g.124500241A>CCA374886008NR5A1c.719T>G (p.Val240Gly)
c.71T>G (p.Val24Gly)
c.458T>G (p.Val153Gly)
 dbSNP
9g.124500241A>GCA374886010NR5A1c.719T>C (p.Val240Ala)
c.71T>C (p.Val24Ala)
c.458T>C (p.Val153Ala)
9g.124500241A>TCA374886013NR5A1c.719T>A (p.Val240Glu)
c.71T>A (p.Val24Glu)
c.458T>A (p.Val153Glu)
9g.124500242C>ACA374886019NR5A1c.718G>T (p.Val240Leu)
c.70G>T (p.Val24Leu)
c.457G>T (p.Val153Leu)
9g.124500242C>GCA374886017NR5A1c.718G>C (p.Val240Leu)
c.70G>C (p.Val24Leu)
c.457G>C (p.Val153Leu)
9g.124500242C>TCA374886015NR5A1c.718G>A (p.Val240Met)
c.70G>A (p.Val24Met)
c.457G>A (p.Val153Met)
 gnomAD v4
9g.124500243C>ACA374886023NR5A1c.717G>T (p.Gln239His)
c.69G>T (p.Gln23His)
c.456G>T (p.Gln152His)
9g.124500243C=CA1878468345NR5A1c.717G= (p.Gln239=)
c.69G= (p.Gln23=)
c.456G= (p.Gln152=)
9g.124500243C>GCA374886026NR5A1c.717G>C (p.Gln239His)
c.69G>C (p.Gln23His)
c.456G>C (p.Gln152His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.124500243C>TCA467208194NR5A1c.717G>A (p.Gln239=)
c.69G>A (p.Gln23=)
c.456G>A (p.Gln152=)
9g.124500244T>ACA374886028NR5A1c.716A>T (p.Gln239Leu)
c.68A>T (p.Gln23Leu)
c.455A>T (p.Gln152Leu)
9g.124500244T>CCA374886029NR5A1c.716A>G (p.Gln239Arg)
c.68A>G (p.Gln23Arg)
c.455A>G (p.Gln152Arg)
 dbSNP gnomAD v3 gnomAD v4
9g.124500244T>GCA374886031NR5A1c.716A>C (p.Gln239Pro)
c.68A>C (p.Gln23Pro)
c.455A>C (p.Gln152Pro)
9g.124500244T=CA1878468347NR5A1c.716A= (p.Gln239=)
c.68A= (p.Gln23=)
c.455A= (p.Gln152=)
9g.124500245G>ACA374886035NR5A1c.715C>T (p.Gln239Ter)
c.67C>T (p.Gln23Ter)
c.454C>T (p.Gln152Ter)
9g.124500245G>CCA374886037NR5A1c.715C>G (p.Gln239Glu)
c.67C>G (p.Gln23Glu)
c.454C>G (p.Gln152Glu)
9g.124500245G>TCA374886040NR5A1c.715C>A (p.Gln239Lys)
c.67C>A (p.Gln23Lys)
c.454C>A (p.Gln152Lys)
9g.124500246G>ACA467208198NR5A1c.714C>T (p.Asp238=)
c.66C>T (p.Asp22=)
c.453C>T (p.Asp151=)
 gnomAD v4
9g.124500246G>CCA374886043NR5A1c.714C>G (p.Asp238Glu)
c.66C>G (p.Asp22Glu)
c.453C>G (p.Asp151Glu)
9g.124500246G>TCA374886044NR5A1c.714C>A (p.Asp238Glu)
c.66C>A (p.Asp22Glu)
c.453C>A (p.Asp151Glu)
9g.124500247T>ACA374886050NR5A1c.713A>T (p.Asp238Val)
c.65A>T (p.Asp22Val)
c.452A>T (p.Asp151Val)
9g.124500247T>CCA5235414NR5A1c.713A>G (p.Asp238Gly)
c.65A>G (p.Asp22Gly)
c.452A>G (p.Asp151Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500247T>GCA374886054NR5A1c.713A>C (p.Asp238Ala)
c.65A>C (p.Asp22Ala)
c.452A>C (p.Asp151Ala)
9g.124500247T=CA1878468350NR5A1c.713A= (p.Asp238=)
c.65A= (p.Asp22=)
c.452A= (p.Asp151=)
9g.124500248C>ACA374886059NR5A1c.712G>T (p.Asp238Tyr)
c.64G>T (p.Asp22Tyr)
c.451G>T (p.Asp151Tyr)
 dbSNP gnomAD v2
9g.124500248C=CA1878468354NR5A1c.712G= (p.Asp238=)
c.64G= (p.Asp22=)
c.451G= (p.Asp151=)
9g.124500248C>GCA374886058NR5A1c.712G>C (p.Asp238His)
c.64G>C (p.Asp22His)
c.451G>C (p.Asp151His)
9g.124500248C>TCA5235415NR5A1c.712G>A (p.Asp238Asn)
c.64G>A (p.Asp22Asn)
c.451G>A (p.Asp151Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500249C>ACA374886060NR5A1c.711G>T (p.Glu237Asp)
c.63G>T (p.Glu21Asp)
c.450G>T (p.Glu150Asp)
 gnomAD v4
9g.124500249C>GCA374886062NR5A1c.711G>C (p.Glu237Asp)
c.63G>C (p.Glu21Asp)
c.450G>C (p.Glu150Asp)
9g.124500249C>TCA467208201NR5A1c.711G>A (p.Glu237=)
c.63G>A (p.Glu21=)
c.450G>A (p.Glu150=)
 gnomAD v4
9g.124500250T>ACA374886065NR5A1c.710A>T (p.Glu237Val)
c.62A>T (p.Glu21Val)
c.449A>T (p.Glu150Val)
9g.124500250T>CCA374886067NR5A1c.710A>G (p.Glu237Gly)
c.62A>G (p.Glu21Gly)
c.449A>G (p.Glu150Gly)
9g.124500250T>GCA374886069NR5A1c.710A>C (p.Glu237Ala)
c.62A>C (p.Glu21Ala)
c.449A>C (p.Glu150Ala)
9g.124500251C>ACA374886072NR5A1c.709G>T (p.Glu237Ter)
c.61G>T (p.Glu21Ter)
c.448G>T (p.Glu150Ter)
9g.124500251C>GCA374886073NR5A1c.709G>C (p.Glu237Gln)
c.61G>C (p.Glu21Gln)
c.448G>C (p.Glu150Gln)
9g.124500251C>TCA374886077NR5A1c.709G>A (p.Glu237Lys)
c.61G>A (p.Glu21Lys)
c.448G>A (p.Glu150Lys)
9g.124500252A>CCA374886081NR5A1c.708T>G (p.Asp236Glu)
c.60T>G (p.Asp20Glu)
c.447T>G (p.Asp149Glu)
9g.124500252A>GCA467208204NR5A1c.708T>C (p.Asp236=)
c.60T>C (p.Asp20=)
c.447T>C (p.Asp149=)
9g.124500252A>TCA374886083NR5A1c.708T>A (p.Asp236Glu)
c.60T>A (p.Asp20Glu)
c.447T>A (p.Asp149Glu)
9g.124500253T>ACA374886088NR5A1c.707A>T (p.Asp236Val)
c.59A>T (p.Asp20Val)
c.446A>T (p.Asp149Val)
 dbSNP gnomAD v2
9g.124500253T>CCA374886091NR5A1c.707A>G (p.Asp236Gly)
c.59A>G (p.Asp20Gly)
c.446A>G (p.Asp149Gly)
9g.124500253T>GCA374886094NR5A1c.707A>C (p.Asp236Ala)
c.59A>C (p.Asp20Ala)
c.446A>C (p.Asp149Ala)
9g.124500253T=CA1878468358NR5A1c.707A= (p.Asp236=)
c.59A= (p.Asp20=)
c.446A= (p.Asp149=)
9g.124500254C>ACA374886096NR5A1c.706G>T (p.Asp236Tyr)
c.58G>T (p.Asp20Tyr)
c.445G>T (p.Asp149Tyr)
 gnomAD v4
9g.124500254C=CA1878468362NR5A1c.706G= (p.Asp236=)
c.58G= (p.Asp20=)
c.445G= (p.Asp149=)
9g.124500254C>GCA374886099NR5A1c.706G>C (p.Asp236His)
c.58G>C (p.Asp20His)
c.445G>C (p.Asp149His)
 dbSNP gnomAD v2 gnomAD v4
9g.124500254C>TCA374886102NR5A1c.706G>A (p.Asp236Asn)
c.58G>A (p.Asp20Asn)
c.445G>A (p.Asp149Asn)
 gnomAD v4
9g.124500255C>ACA467208210NR5A1c.705G>T (p.Pro235=)
c.57G>T (p.Pro19=)
c.444G>T (p.Pro148=)
 gnomAD v4
9g.124500255C=CA1878468365NR5A1c.705G= (p.Pro235=)
c.57G= (p.Pro19=)
c.444G= (p.Pro148=)
9g.124500255C>GCA467208207NR5A1c.705G>C (p.Pro235=)
c.57G>C (p.Pro19=)
c.444G>C (p.Pro148=)
 gnomAD v4
9g.124500255C>TCA5235416NR5A1c.705G>A (p.Pro235=)
c.57G>A (p.Pro19=)
c.444G>A (p.Pro148=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500256G>ACA5235417NR5A1c.704C>T (p.Pro235Leu)
c.56C>T (p.Pro19Leu)
c.443C>T (p.Pro148Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500256G>CCA374886109NR5A1c.704C>G (p.Pro235Arg)
c.56C>G (p.Pro19Arg)
c.443C>G (p.Pro148Arg)
9g.124500256G=CA1878468370NR5A1c.704C= (p.Pro235=)
c.56C= (p.Pro19=)
c.443C= (p.Pro148=)
9g.124500256G>TCA374886112NR5A1c.704C>A (p.Pro235Gln)
c.56C>A (p.Pro19Gln)
c.443C>A (p.Pro148Gln)
 gnomAD v4
9g.124500257G>ACA374886115NR5A1c.703C>T (p.Pro235Ser)
c.55C>T (p.Pro19Ser)
c.442C>T (p.Pro148Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.124500257G>CCA374886119NR5A1c.703C>G (p.Pro235Ala)
c.55C>G (p.Pro19Ala)
c.442C>G (p.Pro148Ala)
9g.124500257G=CA1878468372NR5A1c.703C= (p.Pro235=)
c.55C= (p.Pro19=)
c.442C= (p.Pro148=)
9g.124500257G>TCA374886121NR5A1c.703C>A (p.Pro235Thr)
c.55C>A (p.Pro19Thr)
c.442C>A (p.Pro148Thr)
9g.124500258C>ACA374886125NR5A1c.702G>T (p.Glu234Asp)
c.54G>T (p.Glu18Asp)
c.441G>T (p.Glu147Asp)
9g.124500258C>GCA374886128NR5A1c.702G>C (p.Glu234Asp)
c.54G>C (p.Glu18Asp)
c.441G>C (p.Glu147Asp)
9g.124500258C>TCA467208212NR5A1c.702G>A (p.Glu234=)
c.54G>A (p.Glu18=)
c.441G>A (p.Glu147=)
 gnomAD v4 COSMIC COSMIC
9g.124500259T>ACA374886131NR5A1c.701A>T (p.Glu234Val)
c.53A>T (p.Glu18Val)
c.440A>T (p.Glu147Val)
9g.124500259T>CCA374886132NR5A1c.701A>G (p.Glu234Gly)
c.53A>G (p.Glu18Gly)
c.440A>G (p.Glu147Gly)
 COSMIC COSMIC
9g.124500259T>GCA374886135NR5A1c.701A>C (p.Glu234Ala)
c.53A>C (p.Glu18Ala)
c.440A>C (p.Glu147Ala)
9g.124500260C>ACA374886138NR5A1c.700G>T (p.Glu234Ter)
c.52G>T (p.Glu18Ter)
c.439G>T (p.Glu147Ter)
9g.124500260C>GCA374886141NR5A1c.700G>C (p.Glu234Gln)
c.52G>C (p.Glu18Gln)
c.439G>C (p.Glu147Gln)
9g.124500260C>TCA374886142NR5A1c.700G>A (p.Glu234Lys)
c.52G>A (p.Glu18Lys)
c.439G>A (p.Glu147Lys)
 COSMIC COSMIC
9g.124500260_124500269delinsCCAGCTGCAGCA1878468376NR5A1c.691_700delinsCTGCAGCTGG (p.Leu231=)
c.43_52delinsCTGCAGCTGG (p.Leu15=)
c.430_439delinsCTGCAGCTGG (p.Leu144=)
9g.124500261C>ACA467208217NR5A1c.699G>T (p.Leu233=)
c.51G>T (p.Leu17=)
c.438G>T (p.Leu146=)
9g.124500261C>GCA467208219NR5A1c.699G>C (p.Leu233=)
c.51G>C (p.Leu17=)
c.438G>C (p.Leu146=)
9g.124500261C>TCA467208221NR5A1c.699G>A (p.Leu233=)
c.51G>A (p.Leu17=)
c.438G>A (p.Leu146=)
9g.124500270_124500278dupCA2695211083NR5A1c.691_699dup (p.Leu233_Glu234insLeuGlnLeu)
c.43_51dup
c.430_438dup (p.Leu146_Glu147insLeuGlnLeu)
9g.124500270_124500278delCA122724NR5A1c.691_699del (p.Leu231_Leu233del)
c.43_51del
c.430_438del (p.Leu144_Leu146del)
 ClinVar dbSNP
9g.124500262A>CCA374886150NR5A1c.698T>G (p.Leu233Arg)
c.50T>G (p.Leu17Arg)
c.437T>G (p.Leu146Arg)
9g.124500262A>GCA374886147NR5A1c.698T>C (p.Leu233Pro)
c.50T>C (p.Leu17Pro)
c.437T>C (p.Leu146Pro)
9g.124500262A>TCA374886152NR5A1c.698T>A (p.Leu233Gln)
c.50T>A (p.Leu17Gln)
c.437T>A (p.Leu146Gln)
9g.124500263G>ACA199728742NR5A1c.697C>T (p.Leu233=)
c.49C>T (p.Leu17=)
c.436C>T (p.Leu146=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500263G>CCA199728740NR5A1c.697C>G (p.Leu233Val)
c.49C>G (p.Leu17Val)
c.436C>G (p.Leu146Val)
 dbSNP gnomAD v3 gnomAD v4
9g.124500263G=CA1878468387NR5A1c.697C= (p.Leu233=)
c.49C= (p.Leu17=)
c.436C= (p.Leu146=)
9g.124500263G>TCA374886160NR5A1c.697C>A (p.Leu233Met)
c.49C>A (p.Leu17Met)
c.436C>A (p.Leu146Met)
 gnomAD v4
9g.124500264C>ACA374886162NR5A1c.696G>T (p.Gln232His)
c.48G>T (p.Gln16His)
c.435G>T (p.Gln145His)
9g.124500264C>GCA374886163NR5A1c.696G>C (p.Gln232His)
c.48G>C (p.Gln16His)
c.435G>C (p.Gln145His)
9g.124500264C>TCA467208225NR5A1c.696G>A (p.Gln232=)
c.48G>A (p.Gln16=)
c.435G>A (p.Gln145=)
9g.124500265T>ACA374886166NR5A1c.695A>T (p.Gln232Leu)
c.47A>T (p.Gln16Leu)
c.434A>T (p.Gln145Leu)
9g.124500265T>CCA374886168NR5A1c.695A>G (p.Gln232Arg)
c.47A>G (p.Gln16Arg)
c.434A>G (p.Gln145Arg)
9g.124500265T>GCA374886171NR5A1c.695A>C (p.Gln232Pro)
c.47A>C (p.Gln16Pro)
c.434A>C (p.Gln145Pro)
9g.124500266G>ACA374886174NR5A1c.694C>T (p.Gln232Ter)
c.46C>T (p.Gln16Ter)
c.433C>T (p.Gln145Ter)
 gnomAD v4
9g.124500266G>CCA374886177NR5A1c.694C>G (p.Gln232Glu)
c.46C>G (p.Gln16Glu)
c.433C>G (p.Gln145Glu)
9g.124500266G>TCA374886178NR5A1c.694C>A (p.Gln232Lys)
c.46C>A (p.Gln16Lys)
c.433C>A (p.Gln145Lys)
 gnomAD v4
9g.124500268_124500273delCA2691611002NR5A1c.689_694del (p.Leu230_Leu231del)
c.41_46del
c.428_433del (p.Leu143_Leu144del)
 gnomAD v4
9g.124500267C>ACA467208227NR5A1c.693G>T (p.Leu231=)
c.45G>T (p.Leu15=)
c.432G>T (p.Leu144=)
 dbSNP gnomAD v2 gnomAD v4
9g.124500267C=CA1878468391NR5A1c.693G= (p.Leu231=)
c.45G= (p.Leu15=)
c.432G= (p.Leu144=)
9g.124500267C>GCA467208229NR5A1c.693G>C (p.Leu231=)
c.45G>C (p.Leu15=)
c.432G>C (p.Leu144=)
9g.124500267C>TCA5235418NR5A1c.693G>A (p.Leu231=)
c.45G>A (p.Leu15=)
c.432G>A (p.Leu144=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500268A>CCA374886192NR5A1c.692T>G (p.Leu231Arg)
c.44T>G (p.Leu15Arg)
c.431T>G (p.Leu144Arg)
9g.124500268A>GCA374886190NR5A1c.692T>C (p.Leu231Pro)
c.44T>C (p.Leu15Pro)
c.431T>C (p.Leu144Pro)
9g.124500268A>TCA374886188NR5A1c.692T>A (p.Leu231Gln)
c.44T>A (p.Leu15Gln)
c.431T>A (p.Leu144Gln)
9g.124500269G>ACA467208232NR5A1c.691C>T (p.Leu231=)
c.43C>T (p.Leu15=)
c.430C>T (p.Leu144=)
 dbSNP gnomAD v2 gnomAD v4
9g.124500269G>CCA374886195NR5A1c.691C>G (p.Leu231Val)
c.43C>G (p.Leu15Val)
c.430C>G (p.Leu144Val)
9g.124500269G=CA1878468394NR5A1c.691C= (p.Leu231=)
c.43C= (p.Leu15=)
c.430C= (p.Leu144=)
9g.124500269G>TCA374886198NR5A1c.691C>A (p.Leu231Met)
c.43C>A (p.Leu15Met)
c.430C>A (p.Leu144Met)
9g.124500271_124500300delCA2695211084NR5A1c.662_691del (p.Pro221_Leu230del)
c.40-26_43del
c.401_430del (p.Pro134_Leu143del)
9g.124500270C>ACA199728752NR5A1c.690G>T (p.Leu230=)
c.42G>T (p.Leu14=)
c.429G>T (p.Leu143=)
 dbSNP
9g.124500270C=CA1878468397NR5A1c.690G= (p.Leu230=)
c.42G= (p.Leu14=)
c.429G= (p.Leu143=)
9g.124500270C>GCA467208234NR5A1c.690G>C (p.Leu230=)
c.42G>C (p.Leu14=)
c.429G>C (p.Leu143=)
9g.124500270C>TCA5235419NR5A1c.690G>A (p.Leu230=)
c.42G>A (p.Leu14=)
c.429G>A (p.Leu143=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500271A=CA1878468400NR5A1c.689T= (p.Leu230=)
c.41T= (p.Leu14=)
c.428T= (p.Leu143=)
9g.124500271A>CCA374886206NR5A1c.689T>G (p.Leu230Arg)
c.41T>G (p.Leu14Arg)
c.428T>G (p.Leu143Arg)
9g.124500271A>GCA374886208NR5A1c.689T>C (p.Leu230Pro)
c.41T>C (p.Leu14Pro)
c.428T>C (p.Leu143Pro)
9g.124500271A>TCA374886211NR5A1c.689T>A (p.Leu230Gln)
c.41T>A (p.Leu14Gln)
c.428T>A (p.Leu143Gln)
 dbSNP gnomAD v3 gnomAD v4
9g.124500272G>ACA467208236NR5A1c.688C>T (p.Leu230=)
c.40C>T (p.Leu14=)
c.427C>T (p.Leu143=)
9g.124500272G>CCA374886216NR5A1c.688C>G (p.Leu230Val)
c.40C>G (p.Leu14Val)
c.427C>G (p.Leu143Val)
 dbSNP
9g.124500272G=CA1878468404NR5A1c.688C= (p.Leu230=)
c.40C= (p.Leu14=)
c.427C= (p.Leu143=)
9g.124500272G>TCA374886229NR5A1c.688C>A (p.Leu230Met)
c.40C>A (p.Leu14Met)
c.427C>A (p.Leu143Met)
9g.124500273C>ACA374886232NR5A1c.687G>T (p.Gln229His)
c.40-1G>T (n.40-1G>T)
c.426G>T (p.Gln142His)
9g.124500273C>GCA374886234NR5A1c.687G>C (p.Gln229His)
c.40-1G>C (n.40-1G>C)
c.426G>C (p.Gln142His)
9g.124500273C>TCA374886236NR5A1c.687G>A (p.Gln229=)
c.40-1G>A (n.40-1G>A)
c.426G>A (p.Gln142=)
9g.124500274T>ACA374886241NR5A1c.686A>T (p.Gln229Leu)
c.40-2A>T (n.40-2A>T)
c.425A>T (p.Gln142Leu)
9g.124500274T>CCA5235420NR5A1c.686A>G (p.Gln229Arg)
c.40-2A>G (n.40-2A>G)
c.425A>G (p.Gln142Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500274T>GCA374886243NR5A1c.686A>C (p.Gln229Pro)
c.40-2A>C (n.40-2A>C)
c.425A>C (p.Gln142Pro)
9g.124500274T=CA1878468415NR5A1c.686A= (p.Gln229=)
c.40-2A= (n.40-2A=)
c.425A= (p.Gln142=)
9g.124500275G>ACA374886248NR5A1c.685C>T (p.Gln229Ter)
c.40-3C>T (n.40-3C>T)
c.424C>T (p.Gln142Ter)
9g.124500275G>CCA199728756NR5A1c.685C>G (p.Gln229Glu)
c.40-3C>G (n.40-3C>G)
c.424C>G (p.Gln142Glu)
 dbSNP
9g.124500275G=CA1878468424NR5A1c.685C= (p.Gln229=)
c.40-3C= (n.40-3C=)
c.424C= (p.Gln142=)
9g.124500275G>TCA374886250NR5A1c.685C>A (p.Gln229Lys)
c.40-3C>A (n.40-3C>A)
c.424C>A (p.Gln142Lys)
 gnomAD v4
9g.124500276C>ACA5235421NR5A1c.684G>T (p.Leu228=)
c.40-4G>T (n.40-4G>T)
c.423G>T (p.Leu141=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500276C=CA1878468430NR5A1c.684G= (p.Leu228=)
c.40-4G= (n.40-4G=)
c.423G= (p.Leu141=)
9g.124500276C>GCA467208240NR5A1c.684G>C (p.Leu228=)
c.40-4G>C (n.40-4G>C)
c.423G>C (p.Leu141=)
9g.124500276C>TCA467208239NR5A1c.684G>A (p.Leu228=)
c.40-4G>A (n.40-4G>A)
c.423G>A (p.Leu141=)
9g.124500277A>CCA374886261NR5A1c.683T>G (p.Leu228Arg)
c.40-5T>G (n.40-5T>G)
c.422T>G (p.Leu141Arg)
9g.124500277A>GCA374886257NR5A1c.683T>C (p.Leu228Pro)
c.40-5T>C (n.40-5T>C)
c.422T>C (p.Leu141Pro)
9g.124500277A>TCA374886259NR5A1c.683T>A (p.Leu228Gln)
c.40-5T>A (n.40-5T>A)
c.422T>A (p.Leu141Gln)
9g.124500278G>ACA199728763NR5A1c.682C>T (p.Leu228=)
c.40-6C>T (n.40-6C>T)
c.421C>T (p.Leu141=)
 dbSNP gnomAD v3 gnomAD v4
9g.124500278G>CCA374886263NR5A1c.682C>G (p.Leu228Val)
c.40-6C>G (n.40-6C>G)
c.421C>G (p.Leu141Val)
9g.124500278G=CA1878468435NR5A1c.682C= (p.Leu228=)
c.40-6C= (n.40-6C=)
c.421C= (p.Leu141=)
9g.124500278G>TCA374886265NR5A1c.682C>A (p.Leu228Met)
c.40-6C>A (n.40-6C>A)
c.421C>A (p.Leu141Met)
9g.124500279G>ACA199728773NR5A1c.681C>T (p.Ile227=)
c.40-7C>T (n.40-7C>T)
c.420C>T (p.Ile140=)
 dbSNP gnomAD v4
9g.124500279G>CCA374886267NR5A1c.681C>G (p.Ile227Met)
c.40-7C>G (n.40-7C>G)
c.420C>G (p.Ile140Met)
9g.124500279G=CA1878468439NR5A1c.681C= (p.Ile227=)
c.40-7C= (n.40-7C=)
c.420C= (p.Ile140=)
9g.124500279G>TCA467208242NR5A1c.681C>A (p.Ile227=)
c.40-7C>A (n.40-7C>A)
c.420C>A (p.Ile140=)
 gnomAD v4
9g.124500280A>CCA374886270NR5A1c.680T>G (p.Ile227Ser)
c.40-8T>G (n.40-8T>G)
c.419T>G (p.Ile140Ser)
9g.124500280A>GCA374886272NR5A1c.680T>C (p.Ile227Thr)
c.40-8T>C (n.40-8T>C)
c.419T>C (p.Ile140Thr)
9g.124500280A>TCA374886274NR5A1c.680T>A (p.Ile227Asn)
c.40-8T>A (n.40-8T>A)
c.419T>A (p.Ile140Asn)
9g.124500281T>ACA374886276NR5A1c.679A>T (p.Ile227Phe)
c.40-9A>T (n.40-9A>T)
c.418A>T (p.Ile140Phe)
9g.124500281T>CCA374886278NR5A1c.679A>G (p.Ile227Val)
c.40-9A>G (n.40-9A>G)
c.418A>G (p.Ile140Val)
 gnomAD v4
9g.124500281T>GCA374886280NR5A1c.679A>C (p.Ile227Leu)
c.40-9A>C (n.40-9A>C)
c.418A>C (p.Ile140Leu)
9g.124500282G>ACA467208244NR5A1c.678C>T (p.Leu226=)
c.40-10C>T (n.40-10C>T)
c.417C>T (p.Leu139=)
 dbSNP
9g.124500282G>CCA467208245NR5A1c.678C>G (p.Leu226=)
c.40-10C>G (n.40-10C>G)
c.417C>G (p.Leu139=)
9g.124500282G>TCA467208247NR5A1c.678C>A (p.Leu226=)
c.40-10C>A (n.40-10C>A)
c.417C>A (p.Leu139=)
9g.124500283A>CCA374886287NR5A1c.677T>G (p.Leu226Arg)
c.40-11T>G (n.40-11T>G)
c.416T>G (p.Leu139Arg)
9g.124500283A>GCA374886283NR5A1c.677T>C (p.Leu226Pro)
c.40-11T>C (n.40-11T>C)
c.416T>C (p.Leu139Pro)
 gnomAD v4
9g.124500283A>TCA374886285NR5A1c.677T>A (p.Leu226His)
c.40-11T>A (n.40-11T>A)
c.416T>A (p.Leu139His)
9g.124500284G>ACA5235422NR5A1c.676C>T (p.Leu226Phe)
c.40-12C>T (n.40-12C>T)
c.415C>T (p.Leu139Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500284G>CCA374886291NR5A1c.676C>G (p.Leu226Val)
c.40-12C>G (n.40-12C>G)
c.415C>G (p.Leu139Val)
9g.124500284G=CA1878468440NR5A1c.676C= (p.Leu226=)
c.40-12C= (n.40-12C=)
c.415C= (p.Leu139=)
9g.124500284G>TCA374886292NR5A1c.676C>A (p.Leu226Ile)
c.40-12C>A (n.40-12C>A)
c.415C>A (p.Leu139Ile)
 gnomAD v4
9g.124500285C>ACA374886295NR5A1c.675G>T (p.Glu225Asp)
c.40-13G>T (n.40-13G>T)
c.414G>T (p.Glu138Asp)
9g.124500285C=CA1878468442NR5A1c.675G= (p.Glu225=)
c.40-13G= (n.40-13G=)
c.414G= (p.Glu138=)
9g.124500285C>GCA374886297NR5A1c.675G>C (p.Glu225Asp)
c.40-13G>C (n.40-13G>C)
c.414G>C (p.Glu138Asp)
9g.124500285C>TCA467208250NR5A1c.675G>A (p.Glu225=)
c.40-13G>A (n.40-13G>A)
c.414G>A (p.Glu138=)
 dbSNP gnomAD v3 gnomAD v4
9g.124500286T>ACA374886300NR5A1c.674A>T (p.Glu225Val)
c.40-14A>T (n.40-14A>T)
c.413A>T (p.Glu138Val)
9g.124500286T>CCA374886302NR5A1c.674A>G (p.Glu225Gly)
c.40-14A>G (n.40-14A>G)
c.413A>G (p.Glu138Gly)
9g.124500286T>GCA374886303NR5A1c.674A>C (p.Glu225Ala)
c.40-14A>C (n.40-14A>C)
c.413A>C (p.Glu138Ala)
9g.124500287C>ACA374886305NR5A1c.673G>T (p.Glu225Ter)
c.40-15G>T (n.40-15G>T)
c.412G>T (p.Glu138Ter)
9g.124500287C=CA1878468446NR5A1c.673G= (p.Glu225=)
c.40-15G= (n.40-15G=)
c.412G= (p.Glu138=)
9g.124500287C>GCA374886306NR5A1c.673G>C (p.Glu225Gln)
c.40-15G>C (n.40-15G>C)
c.412G>C (p.Glu138Gln)
9g.124500287C>TCA374886308NR5A1c.673G>A (p.Glu225Lys)
c.40-15G>A (n.40-15G>A)
c.412G>A (p.Glu138Lys)
 dbSNP gnomAD v2 gnomAD v4
9g.124500288A>CCA467208254NR5A1c.672T>G (p.Pro224=)
c.40-16T>G (n.40-16T>G)
c.411T>G (p.Pro137=)
9g.124500288A>GCA467208255NR5A1c.672T>C (p.Pro224=)
c.40-16T>C (n.40-16T>C)
c.411T>C (p.Pro137=)
 gnomAD v4
9g.124500288A>TCA467208256NR5A1c.672T>A (p.Pro224=)
c.40-16T>A (n.40-16T>A)
c.411T>A (p.Pro137=)
9g.124500289G>ACA374886313NR5A1c.671C>T (p.Pro224Leu)
c.40-17C>T (n.40-17C>T)
c.410C>T (p.Pro137Leu)
9g.124500289G>CCA374886315NR5A1c.671C>G (p.Pro224Arg)
c.40-17C>G (n.40-17C>G)
c.410C>G (p.Pro137Arg)
9g.124500289G>TCA374886311NR5A1c.671C>A (p.Pro224His)
c.40-17C>A (n.40-17C>A)
c.410C>A (p.Pro137His)
9g.124500290G>ACA374886318NR5A1c.670C>T (p.Pro224Ser)
c.40-18C>T (n.40-18C>T)
c.409C>T (p.Pro137Ser)
 dbSNP gnomAD v2
9g.124500290G>CCA374886320NR5A1c.670C>G (p.Pro224Ala)
c.40-18C>G (n.40-18C>G)
c.409C>G (p.Pro137Ala)
9g.124500290G=CA1878468450NR5A1c.670C= (p.Pro224=)
c.40-18C= (n.40-18C=)
c.409C= (p.Pro137=)
9g.124500290G>TCA374886322NR5A1c.670C>A (p.Pro224Thr)
c.40-18C>A (n.40-18C>A)
c.409C>A (p.Pro137Thr)
 dbSNP gnomAD v2
9g.124500291C>ACA467208258NR5A1c.669G>T (p.Val223=)
c.40-19G>T (n.40-19G>T)
c.408G>T (p.Val136=)
9g.124500291C>GCA467208260NR5A1c.669G>C (p.Val223=)
c.40-19G>C (n.40-19G>C)
c.408G>C (p.Val136=)
9g.124500291C>TCA467208259NR5A1c.669G>A (p.Val223=)
c.40-19G>A (n.40-19G>A)
c.408G>A (p.Val136=)
 gnomAD v4
9g.124500292A>CCA374886324NR5A1c.668T>G (p.Val223Gly)
c.40-20T>G (n.40-20T>G)
c.407T>G (p.Val136Gly)
9g.124500292A>GCA374886325NR5A1c.668T>C (p.Val223Ala)
c.40-20T>C (n.40-20T>C)
c.407T>C (p.Val136Ala)
9g.124500292A>TCA374886327NR5A1c.668T>A (p.Val223Glu)
c.40-20T>A (n.40-20T>A)
c.407T>A (p.Val136Glu)
9g.124500293C>ACA374886329NR5A1c.667G>T (p.Val223Leu)
c.40-21G>T (n.40-21G>T)
c.406G>T (p.Val136Leu)
 dbSNP gnomAD v3 gnomAD v4
9g.124500293C=CA1878468456NR5A1c.667G= (p.Val223=)
c.40-21G= (n.40-21G=)
c.406G= (p.Val136=)
9g.124500293C>GCA374886330NR5A1c.667G>C (p.Val223Leu)
c.40-21G>C (n.40-21G>C)
c.406G>C (p.Val136Leu)
9g.124500293C>TCA5235423NR5A1c.667G>A (p.Val223Met)
c.40-21G>A (n.40-21G>A)
c.406G>A (p.Val136Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500293_124500294delinsCGCA1878468460NR5A1c.666_667delinsCG (p.Asn222=)
c.40-22_40-21delinsCG (n.40-22_40-21delinsCG)
c.405_406delinsCG (p.Asn135=)
9g.124500294delCA122719NR5A1c.666del (p.Asn222LysfsTer?)
c.40-22del (n.40-22del)
c.405del (p.Asn135LysfsTer?)
 ClinVar dbSNP
9g.124500294G>ACA5235424NR5A1c.666C>T (p.Asn222=)
c.40-22C>T (n.40-22C>T)
c.405C>T (p.Asn135=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500294G>CCA374886336NR5A1c.666C>G (p.Asn222Lys)
c.40-22C>G (n.40-22C>G)
c.405C>G (p.Asn135Lys)
9g.124500294G=CA1878468463NR5A1c.666C= (p.Asn222=)
c.40-22C= (n.40-22C=)
c.405C= (p.Asn135=)
9g.124500294G>TCA374886338NR5A1c.666C>A (p.Asn222Lys)
c.40-22C>A (n.40-22C>A)
c.405C>A (p.Asn135Lys)
 dbSNP gnomAD v2 gnomAD v4
9g.124500295T>ACA374886345NR5A1c.665A>T (p.Asn222Ile)
c.40-23A>T (n.40-23A>T)
c.404A>T (p.Asn135Ile)
9g.124500295T>CCA374886343NR5A1c.665A>G (p.Asn222Ser)
c.40-23A>G (n.40-23A>G)
c.404A>G (p.Asn135Ser)
9g.124500295T>GCA374886341NR5A1c.665A>C (p.Asn222Thr)
c.40-23A>C (n.40-23A>C)
c.404A>C (p.Asn135Thr)
9g.124500296T>ACA374886348NR5A1c.664A>T (p.Asn222Tyr)
c.40-24A>T (n.40-24A>T)
c.403A>T (p.Asn135Tyr)
9g.124500296T>CCA374886349NR5A1c.664A>G (p.Asn222Asp)
c.40-24A>G (n.40-24A>G)
c.403A>G (p.Asn135Asp)
9g.124500296T>GCA374886351NR5A1c.664A>C (p.Asn222His)
c.40-24A>C (n.40-24A>C)
c.403A>C (p.Asn135His)
 dbSNP
9g.124500296T=CA1878468470NR5A1c.664A= (p.Asn222=)
c.40-24A= (n.40-24A=)
c.403A= (p.Asn135=)
9g.124500297G>ACA467208266NR5A1c.663C>T (p.Pro221=)
c.40-25C>T (n.40-25C>T)
c.402C>T (p.Pro134=)
9g.124500297G>CCA467208267NR5A1c.663C>G (p.Pro221=)
c.40-25C>G (n.40-25C>G)
c.402C>G (p.Pro134=)
9g.124500297G>TCA467208268NR5A1c.663C>A (p.Pro221=)
c.40-25C>A (n.40-25C>A)
c.402C>A (p.Pro134=)
9g.124500298G>ACA374886355NR5A1c.662C>T (p.Pro221Leu)
c.40-26C>T (n.40-26C>T)
c.401C>T (p.Pro134Leu)
 gnomAD v4
9g.124500298G>CCA374886357NR5A1c.662C>G (p.Pro221Arg)
c.40-26C>G (n.40-26C>G)
c.401C>G (p.Pro134Arg)
9g.124500298G=CA1878468478NR5A1c.662C= (p.Pro221=)
c.40-26C= (n.40-26C=)
c.401C= (p.Pro134=)
9g.124500298G>TCA5235425NR5A1c.662C>A (p.Pro221His)
c.40-26C>A (n.40-26C>A)
c.401C>A (p.Pro134His)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500299G>ACA374886359NR5A1c.661C>T (p.Pro221Ser)
c.40-27C>T (n.40-27C>T)
c.400C>T (p.Pro134Ser)
 gnomAD v4
9g.124500299G>CCA199728792NR5A1c.661C>G (p.Pro221Ala)
c.40-27C>G (n.40-27C>G)
c.400C>G (p.Pro134Ala)
 dbSNP gnomAD v4
9g.124500299G=CA1878468483NR5A1c.661C= (p.Pro221=)
c.40-27C= (n.40-27C=)
c.400C= (p.Pro134=)
9g.124500299G>TCA374886361NR5A1c.661C>A (p.Pro221Thr)
c.40-27C>A (n.40-27C>A)
c.400C>A (p.Pro134Thr)
9g.124500300C>ACA467208272NR5A1c.660G>T (p.Gly220=)
c.40-28G>T (n.40-28G>T)
c.399G>T (p.Gly133=)
 dbSNP
9g.124500300C=CA1878468487NR5A1c.660G= (p.Gly220=)
c.40-28G= (n.40-28G=)
c.399G= (p.Gly133=)
9g.124500300C>GCA467208271NR5A1c.660G>C (p.Gly220=)
c.40-28G>C (n.40-28G>C)
c.399G>C (p.Gly133=)
9g.124500300C>TCA467208270NR5A1c.660G>A (p.Gly220=)
c.40-28G>A (n.40-28G>A)
c.399G>A (p.Gly133=)
 dbSNP gnomAD v2 gnomAD v4
9g.124500301C>ACA374886363NR5A1c.659G>T (p.Gly220Val)
c.40-29G>T (n.40-29G>T)
c.398G>T (p.Gly133Val)
9g.124500301C>GCA374886364NR5A1c.659G>C (p.Gly220Ala)
c.40-29G>C (n.40-29G>C)
c.398G>C (p.Gly133Ala)
9g.124500301C>TCA374886366NR5A1c.659G>A (p.Gly220Glu)
c.40-29G>A (n.40-29G>A)
c.398G>A (p.Gly133Glu)
9g.124500302C>ACA374886372NR5A1c.658G>T (p.Gly220Trp)
c.40-30G>T (n.40-30G>T)
c.397G>T (p.Gly133Trp)
9g.124500302C>GCA374886370NR5A1c.658G>C (p.Gly220Arg)
c.40-30G>C (n.40-30G>C)
c.397G>C (p.Gly133Arg)
9g.124500302C>TCA374886368NR5A1c.658G>A (p.Gly220Arg)
c.40-30G>A (n.40-30G>A)
c.397G>A (p.Gly133Arg)
 gnomAD v4
9g.124500303T>ACA467208273NR5A1c.657A>T (p.Gly219=)
c.40-31A>T (n.40-31A>T)
c.396A>T (p.Gly132=)
9g.124500303T>CCA467208275NR5A1c.657A>G (p.Gly219=)
c.40-31A>G (n.40-31A>G)
c.396A>G (p.Gly132=)
9g.124500303T>GCA467208276NR5A1c.657A>C (p.Gly219=)
c.40-31A>C (n.40-31A>C)
c.396A>C (p.Gly132=)
 gnomAD v4
9g.124500304C>ACA374886374NR5A1c.656G>T (p.Gly219Val)
c.40-32G>T (n.40-32G>T)
c.395G>T (p.Gly132Val)
9g.124500304C>GCA374886379NR5A1c.656G>C (p.Gly219Ala)
c.40-32G>C (n.40-32G>C)
c.395G>C (p.Gly132Ala)
9g.124500304C>TCA374886377NR5A1c.656G>A (p.Gly219Glu)
c.40-32G>A (n.40-32G>A)
c.395G>A (p.Gly132Glu)
9g.124500305C>ACA374886382NR5A1c.655G>T (p.Gly219Ter)
c.40-33G>T (n.40-33G>T)
c.394G>T (p.Gly132Ter)
 gnomAD v4
9g.124500305C>GCA374886384NR5A1c.655G>C (p.Gly219Arg)
c.40-33G>C (n.40-33G>C)
c.394G>C (p.Gly132Arg)
9g.124500305C>TCA374886386NR5A1c.655G>A (p.Gly219Arg)
c.40-33G>A (n.40-33G>A)
c.394G>A (p.Gly132Arg)
9g.124500306A>CCA467208280NR5A1c.654T>G (p.Ser218=)
c.40-34T>G (n.40-34T>G)
c.393T>G (p.Ser131=)
9g.124500306A>GCA467208281NR5A1c.654T>C (p.Ser218=)
c.40-34T>C (n.40-34T>C)
c.393T>C (p.Ser131=)
9g.124500306A>TCA467208282NR5A1c.654T>A (p.Ser218=)
c.40-34T>A (n.40-34T>A)
c.393T>A (p.Ser131=)
9g.124500307G>ACA374886387NR5A1c.653C>T (p.Ser218Phe)
c.40-35C>T (n.40-35C>T)
c.392C>T (p.Ser131Phe)
9g.124500307G>CCA374886388NR5A1c.653C>G (p.Ser218Cys)
c.40-35C>G (n.40-35C>G)
c.392C>G (p.Ser131Cys)
9g.124500307G>TCA374886390NR5A1c.653C>A (p.Ser218Tyr)
c.40-35C>A (n.40-35C>A)
c.392C>A (p.Ser131Tyr)
9g.124500308A>CCA374886391NR5A1c.652T>G (p.Ser218Ala)
c.40-36T>G (n.40-36T>G)
c.391T>G (p.Ser131Ala)
9g.124500308A>GCA374886393NR5A1c.652T>C (p.Ser218Pro)
c.40-36T>C (n.40-36T>C)
c.391T>C (p.Ser131Pro)
9g.124500308A>TCA374886396NR5A1c.652T>A (p.Ser218Thr)
c.40-36T>A (n.40-36T>A)
c.391T>A (p.Ser131Thr)
9g.124500309G>ACA467208284NR5A1c.651C>T (p.Phe217=)
c.40-37C>T (n.40-37C>T)
c.390C>T (p.Phe130=)
 gnomAD v4
9g.124500309G>CCA374886399NR5A1c.651C>G (p.Phe217Leu)
c.40-37C>G (n.40-37C>G)
c.390C>G (p.Phe130Leu)
9g.124500309G>TCA374886401NR5A1c.651C>A (p.Phe217Leu)
c.40-37C>A (n.40-37C>A)
c.390C>A (p.Phe130Leu)
9g.124500310A>CCA374886407NR5A1c.650T>G (p.Phe217Cys)
c.40-38T>G (n.40-38T>G)
c.389T>G (p.Phe130Cys)
9g.124500310A>GCA374886403NR5A1c.650T>C (p.Phe217Ser)
c.40-38T>C (n.40-38T>C)
c.389T>C (p.Phe130Ser)
9g.124500310A>TCA374886405NR5A1c.650T>A (p.Phe217Tyr)
c.40-38T>A (n.40-38T>A)
c.389T>A (p.Phe130Tyr)
9g.124500311A>CCA374886409NR5A1c.649T>G (p.Phe217Val)
c.40-39T>G (n.40-39T>G)
c.388T>G (p.Phe130Val)
9g.124500311A>GCA374886411NR5A1c.649T>C (p.Phe217Leu)
c.40-39T>C (n.40-39T>C)
c.388T>C (p.Phe130Leu)
9g.124500311A>TCA374886413NR5A1c.649T>A (p.Phe217Ile)
c.40-39T>A (n.40-39T>A)
c.388T>A (p.Phe130Ile)
9g.124500312G>ACA467208286NR5A1c.648C>T (p.Pro216=)
c.40-40C>T (n.40-40C>T)
c.387C>T (p.Pro129=)
9g.124500312G>CCA467208288NR5A1c.648C>G (p.Pro216=)
c.40-40C>G (n.40-40C>G)
c.387C>G (p.Pro129=)
9g.124500312G>TCA467208289NR5A1c.648C>A (p.Pro216=)
c.40-40C>A (n.40-40C>A)
c.387C>A (p.Pro129=)
 gnomAD v4
9g.124500313G>ACA5235426NR5A1c.647C>T (p.Pro216Leu)
c.40-41C>T (n.40-41C>T)
c.386C>T (p.Pro129Leu)
 dbSNP ExAC gnomAD v2
9g.124500313G>CCA374886417NR5A1c.647C>G (p.Pro216Arg)
c.40-41C>G (n.40-41C>G)
c.386C>G (p.Pro129Arg)
9g.124500313G=CA1878468493NR5A1c.647C= (p.Pro216=)
c.40-41C= (n.40-41C=)
c.386C= (p.Pro129=)
9g.124500313G>TCA374886419NR5A1c.647C>A (p.Pro216His)
c.40-41C>A (n.40-41C>A)
c.386C>A (p.Pro129His)
9g.124500314G>ACA374886423NR5A1c.646C>T (p.Pro216Ser)
c.40-42C>T (n.40-42C>T)
c.385C>T (p.Pro129Ser)
9g.124500314G>CCA374886425NR5A1c.646C>G (p.Pro216Ala)
c.40-42C>G (n.40-42C>G)
c.385C>G (p.Pro129Ala)
9g.124500314G=CA1878468498NR5A1c.646C= (p.Pro216=)
c.40-42C= (n.40-42C=)
c.385C= (p.Pro129=)
9g.124500314G>TCA374886427NR5A1c.646C>A (p.Pro216Thr)
c.40-42C>A (n.40-42C>A)
c.385C>A (p.Pro129Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.124500315C>ACA374886430NR5A1c.645G>T (p.Glu215Asp)
c.40-43G>T (n.40-43G>T)
c.384G>T (p.Glu128Asp)
9g.124500315C=CA1878468502NR5A1c.645G= (p.Glu215=)
c.40-43G= (n.40-43G=)
c.384G= (p.Glu128=)
9g.124500315C>GCA374886432NR5A1c.645G>C (p.Glu215Asp)
c.40-43G>C (n.40-43G>C)
c.384G>C (p.Glu128Asp)
9g.124500315C>TCA467208292NR5A1c.645G>A (p.Glu215=)
c.40-43G>A (n.40-43G>A)
c.384G>A (p.Glu128=)
 dbSNP
9g.124500315dupCA2695211085NR5A1c.645dup (p.Pro216AlafsTer10)
c.40-43dup (n.40-43dup)
c.384dup (p.Pro129AlafsTer10)
9g.124500316T>ACA374886438NR5A1c.644A>T (p.Glu215Val)
c.40-44A>T (n.40-44A>T)
c.383A>T (p.Glu128Val)
9g.124500316T>CCA374886441NR5A1c.644A>G (p.Glu215Gly)
c.40-44A>G (n.40-44A>G)
c.383A>G (p.Glu128Gly)
9g.124500316T>GCA374886436NR5A1c.644A>C (p.Glu215Ala)
c.40-44A>C (n.40-44A>C)
c.383A>C (p.Glu128Ala)
 gnomAD v4
9g.124500317C>ACA374886444NR5A1c.643G>T (p.Glu215Ter)
c.40-45G>T (n.40-45G>T)
c.382G>T (p.Glu128Ter)
9g.124500317C>GCA374886446NR5A1c.643G>C (p.Glu215Gln)
c.40-45G>C (n.40-45G>C)
c.382G>C (p.Glu128Gln)
 gnomAD v4
9g.124500317C>TCA374886447NR5A1c.643G>A (p.Glu215Lys)
c.40-45G>A (n.40-45G>A)
c.382G>A (p.Glu128Lys)
9g.124500318T>ACA467208297NR5A1c.642A>T (p.Pro214=)
c.40-46A>T (n.40-46A>T)
c.381A>T (p.Pro127=)
 gnomAD v4
9g.124500318T>CCA467208298NR5A1c.642A>G (p.Pro214=)
c.40-46A>G (n.40-46A>G)
c.381A>G (p.Pro127=)
 dbSNP gnomAD v2 gnomAD v4
9g.124500318T>GCA467208299NR5A1c.642A>C (p.Pro214=)
c.40-46A>C (n.40-46A>C)
c.381A>C (p.Pro127=)
9g.124500318T=CA1878468602NR5A1c.642A= (p.Pro214=)
c.40-46A= (n.40-46A=)
c.381A= (p.Pro127=)
9g.124500319G>ACA374886450NR5A1c.641C>T (p.Pro214Leu)
c.40-47C>T (n.40-47C>T)
c.380C>T (p.Pro127Leu)
9g.124500319G>CCA374886452NR5A1c.641C>G (p.Pro214Arg)
c.40-47C>G (n.40-47C>G)
c.380C>G (p.Pro127Arg)
9g.124500319G=CA1878468608NR5A1c.641C= (p.Pro214=)
c.40-47C= (n.40-47C=)
c.380C= (p.Pro127=)
9g.124500319G>TCA374886454NR5A1c.641C>A (p.Pro214Gln)
c.40-47C>A (n.40-47C>A)
c.380C>A (p.Pro127Gln)
9g.124500320G>ACA374886461NR5A1c.640C>T (p.Pro214Ser)
c.40-48C>T (n.40-48C>T)
c.379C>T (p.Pro127Ser)
9g.124500320G>CCA374886457NR5A1c.640C>G (p.Pro214Ala)
c.40-48C>G (n.40-48C>G)
c.379C>G (p.Pro127Ala)
9g.124500320G>TCA374886459NR5A1c.640C>A (p.Pro214Thr)
c.40-48C>A (n.40-48C>A)
c.379C>A (p.Pro127Thr)
 gnomAD v4
9g.124500321_124500324dupCA1878468636NR5A1c.637_640dup (p.Pro214LeufsTer13)
c.40-51_40-48dup (n.40-51_40-48dup)
c.376_379dup (p.Pro127LeufsTer13)
 ClinVar dbSNP
9g.124500321G>ACA467208303NR5A1c.639C>T (p.Tyr213=)
c.40-49C>T (n.40-49C>T)
c.378C>T (p.Tyr126=)
 dbSNP gnomAD v2 gnomAD v4
9g.124500321G>CCA374886463NR5A1c.639C>G (p.Tyr213Ter)
c.40-49C>G (n.40-49C>G)
c.378C>G (p.Tyr126Ter)
9g.124500321G=CA1878468640NR5A1c.639C= (p.Tyr213=)
c.40-49C= (n.40-49C=)
c.378C= (p.Tyr126=)
9g.124500321G>TCA5235427NR5A1c.639C>A (p.Tyr213Ter)
c.40-49C>A (n.40-49C>A)
c.378C>A (p.Tyr126Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500322T>ACA374886468NR5A1c.638A>T (p.Tyr213Phe)
c.40-50A>T (n.40-50A>T)
c.377A>T (p.Tyr126Phe)
9g.124500322T>CCA374886470NR5A1c.638A>G (p.Tyr213Cys)
c.40-50A>G (n.40-50A>G)
c.377A>G (p.Tyr126Cys)
9g.124500322T>GCA374886472NR5A1c.638A>C (p.Tyr213Ser)
c.40-50A>C (n.40-50A>C)
c.377A>C (p.Tyr126Ser)
9g.124500323A=CA1878468645NR5A1c.637T= (p.Tyr213=)
c.40-51T= (n.40-51T=)
c.376T= (p.Tyr126=)
9g.124500323A>CCA374886475NR5A1c.637T>G (p.Tyr213Asp)
c.40-51T>G (n.40-51T>G)
c.376T>G (p.Tyr126Asp)
9g.124500323A>GCA374886481NR5A1c.637T>C (p.Tyr213His)
c.40-51T>C (n.40-51T>C)
c.376T>C (p.Tyr126His)
 dbSNP gnomAD v2 gnomAD v4
9g.124500323A>TCA374886478NR5A1c.637T>A (p.Tyr213Asn)
c.40-51T>A (n.40-51T>A)
c.376T>A (p.Tyr126Asn)
9g.124500323_124500330delCA2695211086NR5A1c.630_637del (p.Tyr211ProfsTer12)
c.40-58_40-51del (n.40-58_40-51del)
c.369_376del (p.Tyr124ProfsTer12)
9g.124500324G>ACA467208306NR5A1c.636C>T (p.Gly212=)
c.40-52C>T (n.40-52C>T)
c.375C>T (p.Gly125=)
 gnomAD v4
9g.124500324G>CCA467208307NR5A1c.636C>G (p.Gly212=)
c.40-52C>G (n.40-52C>G)
c.375C>G (p.Gly125=)
9g.124500324G>TCA467208308NR5A1c.636C>A (p.Gly212=)
c.40-52C>A (n.40-52C>A)
c.375C>A (p.Gly125=)
9g.124500325_124500331delCA2695211087NR5A1c.630_636del (p.Tyr211ThrfsTer?)
c.40-58_40-52del (n.40-58_40-52del)
c.369_375del (p.Tyr124ThrfsTer?)
9g.124500325C>ACA374886483NR5A1c.635G>T (p.Gly212Val)
c.40-53G>T (n.40-53G>T)
c.374G>T (p.Gly125Val)
9g.124500325C>GCA374886484NR5A1c.635G>C (p.Gly212Ala)
c.40-53G>C (n.40-53G>C)
c.374G>C (p.Gly125Ala)
9g.124500325C>TCA374886486NR5A1c.635G>A (p.Gly212Asp)
c.40-53G>A (n.40-53G>A)
c.374G>A (p.Gly125Asp)
9g.124500326C>ACA374886490NR5A1c.634G>T (p.Gly212Cys)
c.40-54G>T (n.40-54G>T)
c.373G>T (p.Gly125Cys)
 gnomAD v4
9g.124500326C=CA1878468654NR5A1c.634G= (p.Gly212=)
c.40-54G= (n.40-54G=)
c.373G= (p.Gly125=)
9g.124500326C>GCA374886492NR5A1c.634G>C (p.Gly212Arg)
c.40-54G>C (n.40-54G>C)
c.373G>C (p.Gly125Arg)
9g.124500326C>TCA128718NR5A1c.634G>A (p.Gly212Ser)
c.40-54G>A (n.40-54G>A)
c.373G>A (p.Gly125Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500327G>ACA5235428NR5A1c.633C>T (p.Tyr211=)
c.40-55C>T (n.40-55C>T)
c.372C>T (p.Tyr124=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500327G>CCA374886495NR5A1c.633C>G (p.Tyr211Ter)
c.40-55C>G (n.40-55C>G)
c.372C>G (p.Tyr124Ter)
9g.124500327G=CA1878468663NR5A1c.633C= (p.Tyr211=)
c.40-55C= (n.40-55C=)
c.372C= (p.Tyr124=)
9g.124500327G>TCA374886497NR5A1c.633C>A (p.Tyr211Ter)
c.40-55C>A (n.40-55C>A)
c.372C>A (p.Tyr124Ter)
 gnomAD v4
9g.124500327_124500331delinsTTACTCA2695211088NR5A1c.629_633delinsAGTAA (p.Pro210GlnfsTer2)
c.40-59_40-55delinsAGTAA (n.40-59_40-55delinsAGTAA)
c.368_372delinsAGTAA (p.Pro123GlnfsTer2)
9g.124500328T>ACA374886500NR5A1c.632A>T (p.Tyr211Phe)
c.40-56A>T (n.40-56A>T)
c.371A>T (p.Tyr124Phe)
9g.124500328T>CCA5235429NR5A1c.632A>G (p.Tyr211Cys)
c.40-56A>G (n.40-56A>G)
c.371A>G (p.Tyr124Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500328T>GCA374886505NR5A1c.632A>C (p.Tyr211Ser)
c.40-56A>C (n.40-56A>C)
c.371A>C (p.Tyr124Ser)
9g.124500328T=CA1878468667NR5A1c.632A= (p.Tyr211=)
c.40-56A= (n.40-56A=)
c.371A= (p.Tyr124=)
9g.124500329A>CCA374886508NR5A1c.631T>G (p.Tyr211Asp)
c.40-57T>G (n.40-57T>G)
c.370T>G (p.Tyr124Asp)
9g.124500329A>GCA374886512NR5A1c.631T>C (p.Tyr211His)
c.40-57T>C (n.40-57T>C)
c.370T>C (p.Tyr124His)
9g.124500329A>TCA374886510NR5A1c.631T>A (p.Tyr211Asn)
c.40-57T>A (n.40-57T>A)
c.370T>A (p.Tyr124Asn)
9g.124500330delCA2695211089NR5A1c.630del (p.Tyr211ThrfsTer?)
c.40-58del (n.40-58del)
c.369del (p.Tyr124ThrfsTer?)
9g.124500330C>ACA5235431NR5A1c.630G>T (p.Pro210=)
c.40-58G>T (n.40-58G>T)
c.369G>T (p.Pro123=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500330C=CA1878468675NR5A1c.630G= (p.Pro210=)
c.40-58G= (n.40-58G=)
c.369G= (p.Pro123=)
9g.124500330C>GCA467208319NR5A1c.630G>C (p.Pro210=)
c.40-58G>C (n.40-58G>C)
c.369G>C (p.Pro123=)
9g.124500330C>TCA5235430NR5A1c.630G>A (p.Pro210=)
c.40-58G>A (n.40-58G>A)
c.369G>A (p.Pro123=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.124500331G>ACA199728830NR5A1c.629C>T (p.Pro210Leu)
c.40-59C>T (n.40-59C>T)
c.368C>T (p.Pro123Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500331G>CCA374886518NR5A1c.629C>G (p.Pro210Arg)
c.40-59C>G (n.40-59C>G)
c.368C>G (p.Pro123Arg)
9g.124500331G=CA1878468678NR5A1c.629C= (p.Pro210=)
c.40-59C= (n.40-59C=)
c.368C= (p.Pro123=)
9g.124500331G>TCA374886520NR5A1c.629C>A (p.Pro210Gln)
c.40-59C>A (n.40-59C>A)
c.368C>A (p.Pro123Gln)
9g.124500332G>ACA374886522NR5A1c.628C>T (p.Pro210Ser)
c.40-60C>T (n.40-60C>T)
c.367C>T (p.Pro123Ser)
 gnomAD v4
9g.124500332G>CCA374886523NR5A1c.628C>G (p.Pro210Ala)
c.40-60C>G (n.40-60C>G)
c.367C>G (p.Pro123Ala)
9g.124500332G=CA1878468681NR5A1c.628C= (p.Pro210=)
c.40-60C= (n.40-60C=)
c.367C= (p.Pro123=)
9g.124500332G>TCA374886526NR5A1c.628C>A (p.Pro210Thr)
c.40-60C>A (n.40-60C>A)
c.367C>A (p.Pro123Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.124500333C>ACA467208325NR5A1c.627G>T (p.Leu209=)
c.40-61G>T (n.40-61G>T)
c.366G>T (p.Leu122=)
 gnomAD v4
9g.124500333C=CA1878468683NR5A1c.627G= (p.Leu209=)
c.40-61G= (n.40-61G=)
c.366G= (p.Leu122=)
9g.124500333C>GCA467208327NR5A1c.627G>C (p.Leu209=)
c.40-61G>C (n.40-61G>C)
c.366G>C (p.Leu122=)
9g.124500333C>TCA467208326NR5A1c.627G>A (p.Leu209=)
c.40-61G>A (n.40-61G>A)
c.366G>A (p.Leu122=)
 dbSNP gnomAD v2
9g.124500334A=CA1878468686NR5A1c.626T= (p.Leu209=)
c.40-62T= (n.40-62T=)
c.365T= (p.Leu122=)
9g.124500334A>CCA374886529NR5A1c.626T>G (p.Leu209Arg)
c.40-62T>G (n.40-62T>G)
c.365T>G (p.Leu122Arg)
9g.124500334A>GCA374886530NR5A1c.626T>C (p.Leu209Pro)
c.40-62T>C (n.40-62T>C)
c.365T>C (p.Leu122Pro)
9g.124500334A>TCA374886532NR5A1c.626T>A (p.Leu209Gln)
c.40-62T>A (n.40-62T>A)
c.365T>A (p.Leu122Gln)
 dbSNP gnomAD v2 gnomAD v4
9g.124500335G>ACA467208329NR5A1c.625C>T (p.Leu209=)
c.40-63C>T (n.40-63C>T)
c.364C>T (p.Leu122=)
9g.124500335G>CCA374886533NR5A1c.625C>G (p.Leu209Val)
c.40-63C>G (n.40-63C>G)
c.364C>G (p.Leu122Val)
9g.124500335G>TCA374886536NR5A1c.625C>A (p.Leu209Met)
c.40-63C>A (n.40-63C>A)
c.364C>A (p.Leu122Met)
 gnomAD v4
9g.124500336C>ACA467208332NR5A1c.624G>T (p.Gly208=)
c.40-64G>T (n.40-64G>T)
c.363G>T (p.Gly121=)
 gnomAD v4
9g.124500336C>GCA467208333NR5A1c.624G>C (p.Gly208=)
c.40-64G>C (n.40-64G>C)
c.363G>C (p.Gly121=)
9g.124500336C>TCA467208334NR5A1c.624G>A (p.Gly208=)
c.40-64G>A (n.40-64G>A)
c.363G>A (p.Gly121=)
9g.124500338delCA2691611071NR5A1c.624del (p.Leu209CysfsTer?)
c.40-64del (n.40-64del)
c.363del (p.Leu122CysfsTer?)
 gnomAD v4
9g.124500337C>ACA374886539NR5A1c.623G>T (p.Gly208Val)
c.40-65G>T (n.40-65G>T)
c.362G>T (p.Gly121Val)
 gnomAD v4
9g.124500337C=CA1878468690NR5A1c.623G= (p.Gly208=)
c.40-65G= (n.40-65G=)
c.362G= (p.Gly121=)
9g.124500337C>GCA374886540NR5A1c.623G>C (p.Gly208Ala)
c.40-65G>C (n.40-65G>C)
c.362G>C (p.Gly121Ala)
9g.124500337C>TCA374886541NR5A1c.623G>A (p.Gly208Glu)
c.40-65G>A (n.40-65G>A)
c.362G>A (p.Gly121Glu)
 dbSNP gnomAD v2 gnomAD v4
9g.124500338C>ACA374886548NR5A1c.622G>T (p.Gly208Trp)
c.40-66G>T (n.40-66G>T)
c.361G>T (p.Gly121Trp)
9g.124500338C>GCA374886545NR5A1c.622G>C (p.Gly208Arg)
c.40-66G>C (n.40-66G>C)
c.361G>C (p.Gly121Arg)
9g.124500338C>TCA374886544NR5A1c.622G>A (p.Gly208Arg)
c.40-66G>A (n.40-66G>A)
c.361G>A (p.Gly121Arg)

Number of alleles fetched