Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.124500611C>ACA374888507NR5A1c.349G>T (p.Gly117Cys)
c.39+337G>T (n.39+337G>T)
c.88G>T (p.Gly30Cys)
9g.124500611C>GCA374888508NR5A1c.349G>C (p.Gly117Arg)
c.39+337G>C (n.39+337G>C)
c.88G>C (p.Gly30Arg)
9g.124500611C>TCA374888512NR5A1c.349G>A (p.Gly117Ser)
c.39+337G>A (n.39+337G>A)
c.88G>A (p.Gly30Ser)
 gnomAD v4
9g.124500612A>CCA374888515NR5A1c.348T>G (p.Asn116Lys)
c.39+336T>G (n.39+336T>G)
c.87T>G (p.Asn29Lys)
9g.124500612A>GCA467208211NR5A1c.348T>C (p.Asn116=)
c.39+336T>C (n.39+336T>C)
c.87T>C (p.Asn29=)
9g.124500612A>TCA374888517NR5A1c.348T>A (p.Asn116Lys)
c.39+336T>A (n.39+336T>A)
c.87T>A (p.Asn29Lys)
9g.124500613T>ACA374888520NR5A1c.347A>T (p.Asn116Ile)
c.39+335A>T (n.39+335A>T)
c.86A>T (p.Asn29Ile)
9g.124500613T>CCA374888526NR5A1c.347A>G (p.Asn116Ser)
c.39+335A>G (n.39+335A>G)
c.86A>G (p.Asn29Ser)
 dbSNP gnomAD v4
9g.124500613T>GCA374888523NR5A1c.347A>C (p.Asn116Thr)
c.39+335A>C (n.39+335A>C)
c.86A>C (p.Asn29Thr)
9g.124500613T=CA1878469534NR5A1c.347A= (p.Asn116=)
c.39+335A= (n.39+335A=)
c.86A= (p.Asn29=)
9g.124500614T>ACA374888533NR5A1c.346A>T (p.Asn116Tyr)
c.39+334A>T (n.39+334A>T)
c.85A>T (p.Asn29Tyr)
9g.124500614T>CCA374888539NR5A1c.346A>G (p.Asn116Asp)
c.39+334A>G (n.39+334A>G)
c.85A>G (p.Asn29Asp)
9g.124500614T>GCA374888535NR5A1c.346A>C (p.Asn116His)
c.39+334A>C (n.39+334A>C)
c.85A>C (p.Asn29His)
9g.124500615G>ACA467208213NR5A1c.345C>T (p.Ala115=)
c.39+333C>T (n.39+333C>T)
c.84C>T (p.Ala28=)
9g.124500615G>CCA467208214NR5A1c.345C>G (p.Ala115=)
c.39+333C>G (n.39+333C>G)
c.84C>G (p.Ala28=)
 gnomAD v4
9g.124500615G>TCA467208215NR5A1c.345C>A (p.Ala115=)
c.39+333C>A (n.39+333C>A)
c.84C>A (p.Ala28=)
9g.124500616G>ACA374888542NR5A1c.344C>T (p.Ala115Val)
c.39+332C>T (n.39+332C>T)
c.83C>T (p.Ala28Val)
9g.124500616G>CCA374888544NR5A1c.344C>G (p.Ala115Gly)
c.39+332C>G (n.39+332C>G)
c.83C>G (p.Ala28Gly)
9g.124500616G>TCA374888546NR5A1c.344C>A (p.Ala115Asp)
c.39+332C>A (n.39+332C>A)
c.83C>A (p.Ala28Asp)
9g.124500617C>ACA374888548NR5A1c.343G>T (p.Ala115Ser)
c.39+331G>T (n.39+331G>T)
c.82G>T (p.Ala28Ser)
9g.124500617C>GCA374888550NR5A1c.343G>C (p.Ala115Pro)
c.39+331G>C (n.39+331G>C)
c.82G>C (p.Ala28Pro)
9g.124500617C>TCA374888553NR5A1c.343G>A (p.Ala115Thr)
c.39+331G>A (n.39+331G>A)
c.82G>A (p.Ala28Thr)
 ClinVar
9g.124500618C>ACA467208216NR5A1c.342G>T (p.Arg114=)
c.39+330G>T (n.39+330G>T)
c.81G>T (p.Arg27=)
9g.124500618C>GCA467208218NR5A1c.342G>C (p.Arg114=)
c.39+330G>C (n.39+330G>C)
c.81G>C (p.Arg27=)
9g.124500618C>TCA467208220NR5A1c.342G>A (p.Arg114=)
c.39+330G>A (n.39+330G>A)
c.81G>A (p.Arg27=)
9g.124500619C>ACA374888555NR5A1c.341G>T (p.Arg114Leu)
c.39+329G>T (n.39+329G>T)
c.80G>T (p.Arg27Leu)
9g.124500619C=CA1878469538NR5A1c.341G= (p.Arg114=)
c.39+329G= (n.39+329G=)
c.80G= (p.Arg27=)
9g.124500619C>GCA374888558NR5A1c.341G>C (p.Arg114Pro)
c.39+329G>C (n.39+329G>C)
c.80G>C (p.Arg27Pro)
 dbSNP gnomAD v2 gnomAD v4
9g.124500619C>TCA5235500NR5A1c.341G>A (p.Arg114Gln)
c.39+329G>A (n.39+329G>A)
c.80G>A (p.Arg27Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.124500620G>ACA5235501NR5A1c.340C>T (p.Arg114Trp)
c.39+328C>T (n.39+328C>T)
c.79C>T (p.Arg27Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.124500620G>CCA374888565NR5A1c.340C>G (p.Arg114Gly)
c.39+328C>G (n.39+328C>G)
c.79C>G (p.Arg27Gly)
 dbSNP
9g.124500620G=CA1878469542NR5A1c.340C= (p.Arg114=)
c.39+328C= (n.39+328C=)
c.79C= (p.Arg27=)
9g.124500620G>TCA467208222NR5A1c.340C>A (p.Arg114=)
c.39+328C>A (n.39+328C>A)
c.79C>A (p.Arg27=)
 dbSNP gnomAD v3 gnomAD v4
9g.124500621A=CA1878469545NR5A1c.339T= (p.Ile113=)
c.39+327T= (n.39+327T=)
c.78T= (p.Ile26=)
9g.124500621A>CCA374888568NR5A1c.339T>G (p.Ile113Met)
c.39+327T>G (n.39+327T>G)
c.78T>G (p.Ile26Met)
9g.124500621A>GCA467208223NR5A1c.339T>C (p.Ile113=)
c.39+327T>C (n.39+327T>C)
c.78T>C (p.Ile26=)
9g.124500621A>TCA467208224NR5A1c.339T>A (p.Ile113=)
c.39+327T>A (n.39+327T>A)
c.78T>A (p.Ile26=)
 ClinVar dbSNP
9g.124500622delCA2695211098NR5A1c.339del (p.Arg114GlyfsTer?)
c.39+327del (n.39+327del)
c.78del (p.Arg27GlyfsTer?)
9g.124500622A>CCA374888572NR5A1c.338T>G (p.Ile113Ser)
c.39+326T>G (n.39+326T>G)
c.77T>G (p.Ile26Ser)
9g.124500622A>GCA374888574NR5A1c.338T>C (p.Ile113Thr)
c.39+326T>C (n.39+326T>C)
c.77T>C (p.Ile26Thr)
9g.124500622A>TCA374888576NR5A1c.338T>A (p.Ile113Asn)
c.39+326T>A (n.39+326T>A)
c.77T>A (p.Ile26Asn)
9g.124500623T>ACA374888581NR5A1c.337A>T (p.Ile113Phe)
c.39+325A>T (n.39+325A>T)
c.76A>T (p.Ile26Phe)
9g.124500623T>CCA374888583NR5A1c.337A>G (p.Ile113Val)
c.39+325A>G (n.39+325A>G)
c.76A>G (p.Ile26Val)
9g.124500623T>GCA374888586NR5A1c.337A>C (p.Ile113Leu)
c.39+325A>C (n.39+325A>C)
c.76A>C (p.Ile26Leu)
9g.124500624C>ACA374888588NR5A1c.336G>T (p.Gln112His)
c.39+324G>T (n.39+324G>T)
c.75G>T (p.Gln25His)
 dbSNP gnomAD v4
9g.124500624C=CA1878469550NR5A1c.336G= (p.Gln112=)
c.39+324G= (n.39+324G=)
c.75G= (p.Gln25=)
9g.124500624C>GCA374888591NR5A1c.336G>C (p.Gln112His)
c.39+324G>C (n.39+324G>C)
c.75G>C (p.Gln25His)
9g.124500624C>TCA467208226NR5A1c.336G>A (p.Gln112=)
c.39+324G>A (n.39+324G>A)
c.75G>A (p.Gln25=)
 gnomAD v3 gnomAD v4
9g.124500625T>ACA374888595NR5A1c.335A>T (p.Gln112Leu)
c.39+323A>T (n.39+323A>T)
c.74A>T (p.Gln25Leu)
9g.124500625T>CCA374888597NR5A1c.335A>G (p.Gln112Arg)
c.39+323A>G (n.39+323A>G)
c.74A>G (p.Gln25Arg)
9g.124500625T>GCA374888600NR5A1c.335A>C (p.Gln112Pro)
c.39+323A>C (n.39+323A>C)
c.74A>C (p.Gln25Pro)
9g.124500626G>ACA374888606NR5A1c.334C>T (p.Gln112Ter)
c.39+322C>T (n.39+322C>T)
c.73C>T (p.Gln25Ter)
 ClinVar dbSNP gnomAD v4
9g.124500626G>CCA374888607NR5A1c.334C>G (p.Gln112Glu)
c.39+322C>G (n.39+322C>G)
c.73C>G (p.Gln25Glu)
9g.124500626G=CA1878469554NR5A1c.334C= (p.Gln112=)
c.39+322C= (n.39+322C=)
c.73C= (p.Gln25=)
9g.124500626G>TCA374888604NR5A1c.334C>A (p.Gln112Lys)
c.39+322C>A (n.39+322C>A)
c.73C>A (p.Gln25Lys)
9g.124500627T>ACA467208228NR5A1c.333A>T (p.Ala111=)
c.39+321A>T (n.39+321A>T)
c.72A>T (p.Ala24=)
9g.124500627T>CCA467208230NR5A1c.333A>G (p.Ala111=)
c.39+321A>G (n.39+321A>G)
c.72A>G (p.Ala24=)
 dbSNP gnomAD v2 gnomAD v4
9g.124500627T>GCA467208231NR5A1c.333A>C (p.Ala111=)
c.39+321A>C (n.39+321A>C)
c.72A>C (p.Ala24=)
9g.124500627T=CA1878469558NR5A1c.333A= (p.Ala111=)
c.39+321A= (n.39+321A=)
c.72A= (p.Ala24=)
9g.124500628G>ACA374888608NR5A1c.332C>T (p.Ala111Val)
c.39+320C>T (n.39+320C>T)
c.71C>T (p.Ala24Val)
9g.124500628G>CCA374888609NR5A1c.332C>G (p.Ala111Gly)
c.39+320C>G (n.39+320C>G)
c.71C>G (p.Ala24Gly)
9g.124500628G>TCA374888610NR5A1c.332C>A (p.Ala111Glu)
c.39+320C>A (n.39+320C>A)
c.71C>A (p.Ala24Glu)
9g.124500629C>ACA374888613NR5A1c.331G>T (p.Ala111Ser)
c.39+319G>T (n.39+319G>T)
c.70G>T (p.Ala24Ser)
9g.124500629C>GCA374888615NR5A1c.331G>C (p.Ala111Pro)
c.39+319G>C (n.39+319G>C)
c.70G>C (p.Ala24Pro)
9g.124500629C>TCA374888617NR5A1c.331G>A (p.Ala111Thr)
c.39+319G>A (n.39+319G>A)
c.70G>A (p.Ala24Thr)
9g.124500629_124500632delinsCCTTCA1878469561NR5A1c.328_331delinsAAGG (p.Lys110=)
c.39+316_39+319delinsAAGG (n.39+316_39+319delinsAAGG)
c.67_70delinsAAGG (p.Lys23=)
9g.124500630C>ACA374888620NR5A1c.330G>T (p.Lys110Asn)
c.39+318G>T (n.39+318G>T)
c.69G>T (p.Lys23Asn)
9g.124500630C>GCA374888622NR5A1c.330G>C (p.Lys110Asn)
c.39+318G>C (n.39+318G>C)
c.69G>C (p.Lys23Asn)
9g.124500630C>TCA467208233NR5A1c.330G>A (p.Lys110=)
c.39+318G>A (n.39+318G>A)
c.69G>A (p.Lys23=)
 gnomAD v4
9g.124500635_124500637delCA5235502NR5A1c.328_330del (p.Lys110del)
c.39+316_39+318del (n.39+316_39+318del)
c.67_69del (p.Lys23del)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500631T>ACA374888627NR5A1c.329A>T (p.Lys110Met)
c.39+317A>T (n.39+317A>T)
c.68A>T (p.Lys23Met)
9g.124500631T>CCA374888629NR5A1c.329A>G (p.Lys110Arg)
c.39+317A>G (n.39+317A>G)
c.68A>G (p.Lys23Arg)
9g.124500631T>GCA374888631NR5A1c.329A>C (p.Lys110Thr)
c.39+317A>C (n.39+317A>C)
c.68A>C (p.Lys23Thr)
9g.124500632T>ACA374888640NR5A1c.328A>T (p.Lys110Ter)
c.39+316A>T (n.39+316A>T)
c.67A>T (p.Lys23Ter)
9g.124500632T>CCA374888635NR5A1c.328A>G (p.Lys110Glu)
c.39+316A>G (n.39+316A>G)
c.67A>G (p.Lys23Glu)
9g.124500632T>GCA374888636NR5A1c.328A>C (p.Lys110Gln)
c.39+316A>C (n.39+316A>C)
c.67A>C (p.Lys23Gln)
9g.124500633C>ACA374888644NR5A1c.327G>T (p.Lys109Asn)
c.39+315G>T (n.39+315G>T)
c.66G>T (p.Lys22Asn)
9g.124500633C>GCA374888646NR5A1c.327G>C (p.Lys109Asn)
c.39+315G>C (n.39+315G>C)
c.66G>C (p.Lys22Asn)
9g.124500633C>TCA467208235NR5A1c.327G>A (p.Lys109=)
c.39+315G>A (n.39+315G>A)
c.66G>A (p.Lys22=)
 gnomAD v4
9g.124500634T>ACA374888649NR5A1c.326A>T (p.Lys109Met)
c.39+314A>T (n.39+314A>T)
c.65A>T (p.Lys22Met)
9g.124500634T>CCA374888650NR5A1c.326A>G (p.Lys109Arg)
c.39+314A>G (n.39+314A>G)
c.65A>G (p.Lys22Arg)
 gnomAD v4
9g.124500634T>GCA374888653NR5A1c.326A>C (p.Lys109Thr)
c.39+314A>C (n.39+314A>C)
c.65A>C (p.Lys22Thr)
9g.124500635T>ACA374888657NR5A1c.325A>T (p.Lys109Ter)
c.39+313A>T (n.39+313A>T)
c.64A>T (p.Lys22Ter)
9g.124500635T>CCA374888660NR5A1c.325A>G (p.Lys109Glu)
c.39+313A>G (n.39+313A>G)
c.64A>G (p.Lys22Glu)
9g.124500635T>GCA374888661NR5A1c.325A>C (p.Lys109Gln)
c.39+313A>C (n.39+313A>C)
c.64A>C (p.Lys22Gln)
9g.124500636C>ACA374888665NR5A1c.324G>T (p.Gln108His)
c.39+312G>T (n.39+312G>T)
c.63G>T (p.Gln21His)
9g.124500636C>GCA374888667NR5A1c.324G>C (p.Gln108His)
c.39+312G>C (n.39+312G>C)
c.63G>C (p.Gln21His)
9g.124500636C>TCA467208237NR5A1c.324G>A (p.Gln108=)
c.39+312G>A (n.39+312G>A)
c.63G>A (p.Gln21=)
9g.124500637delCA2837994537NR5A1c.323del (p.Gln108ArgfsTer?)
c.39+311del (n.39+311del)
c.62del (p.Gln21ArgfsTer?)
9g.124500637T>ACA374888670NR5A1c.323A>T (p.Gln108Leu)
c.39+311A>T (n.39+311A>T)
c.62A>T (p.Gln21Leu)
9g.124500637T>CCA374888673NR5A1c.323A>G (p.Gln108Arg)
c.39+311A>G (n.39+311A>G)
c.62A>G (p.Gln21Arg)
9g.124500637T>GCA374888675NR5A1c.323A>C (p.Gln108Pro)
c.39+311A>C (n.39+311A>C)
c.62A>C (p.Gln21Pro)
9g.124500638G>ACA374888682NR5A1c.322C>T (p.Gln108Ter)
c.39+310C>T (n.39+310C>T)
c.61C>T (p.Gln21Ter)
9g.124500638G>CCA374888685NR5A1c.322C>G (p.Gln108Glu)
c.39+310C>G (n.39+310C>G)
c.61C>G (p.Gln21Glu)
9g.124500638G>TCA374888680NR5A1c.322C>A (p.Gln108Lys)
c.39+310C>A (n.39+310C>A)
c.61C>A (p.Gln21Lys)
9g.124500638dupCA2842889851NR5A1c.322dup (p.Gln108ProfsTer?)
c.39+310dup (n.39+310dup)
c.61dup (p.Gln21ProfsTer?)
9g.124500639C>ACA374888688NR5A1c.321G>T (p.Gln107His)
c.39+309G>T (n.39+309G>T)
c.60G>T (p.Gln20His)
9g.124500639C>GCA374888691NR5A1c.321G>C (p.Gln107His)
c.39+309G>C (n.39+309G>C)
c.60G>C (p.Gln20His)
9g.124500639C>TCA467208238NR5A1c.321G>A (p.Gln107=)
c.39+309G>A (n.39+309G>A)
c.60G>A (p.Gln20=)
9g.124500640T>ACA374888695NR5A1c.320A>T (p.Gln107Leu)
c.39+308A>T (n.39+308A>T)
c.59A>T (p.Gln20Leu)
9g.124500640T>CCA374888698NR5A1c.320A>G (p.Gln107Arg)
c.39+308A>G (n.39+308A>G)
c.59A>G (p.Gln20Arg)
9g.124500640T>GCA374888700NR5A1c.320A>C (p.Gln107Pro)
c.39+308A>C (n.39+308A>C)
c.59A>C (p.Gln20Pro)
9g.124500641G>ACA374888703NR5A1c.319C>T (p.Gln107Ter)
c.39+307C>T (n.39+307C>T)
c.58C>T (p.Gln20Ter)
9g.124500641G>CCA374888707NR5A1c.319C>G (p.Gln107Glu)
c.39+307C>G (n.39+307C>G)
c.58C>G (p.Gln20Glu)
9g.124500641G>TCA374888709NR5A1c.319C>A (p.Gln107Lys)
c.39+307C>A (n.39+307C>A)
c.58C>A (p.Gln20Lys)
9g.124500642T>ACA374888712NR5A1c.318A>T (p.Lys106Asn)
c.39+306A>T (n.39+306A>T)
c.57A>T (p.Lys19Asn)
9g.124500642T>CCA467208241NR5A1c.318A>G (p.Lys106=)
c.39+306A>G (n.39+306A>G)
c.57A>G (p.Lys19=)
9g.124500642T>GCA374888713NR5A1c.318A>C (p.Lys106Asn)
c.39+306A>C (n.39+306A>C)
c.57A>C (p.Lys19Asn)
9g.124500643T>ACA374888715NR5A1c.317A>T (p.Lys106Ile)
c.39+305A>T (n.39+305A>T)
c.56A>T (p.Lys19Ile)
9g.124500643T>CCA374888718NR5A1c.317A>G (p.Lys106Arg)
c.39+305A>G (n.39+305A>G)
c.56A>G (p.Lys19Arg)
9g.124500643T>GCA374888719NR5A1c.317A>C (p.Lys106Thr)
c.39+305A>C (n.39+305A>C)
c.56A>C (p.Lys19Thr)
9g.124500643_124500648delinsGCCTTCTTCTCA2695211099NR5A1c.312_317delinsAGAAGAAGGC (p.Leu105GlufsTer?)
c.39+300_39+305delinsAGAAGAAGGC (n.39+300_39+305delinsAGAAGAAGGC)
c.51_56delinsAGAAGAAGGC (p.Leu18GlufsTer?)
9g.124500644T>ACA374888727NR5A1c.316A>T (p.Lys106Ter)
c.39+304A>T (n.39+304A>T)
c.55A>T (p.Lys19Ter)
9g.124500644T>CCA374888724NR5A1c.316A>G (p.Lys106Glu)
c.39+304A>G (n.39+304A>G)
c.55A>G (p.Lys19Glu)
9g.124500644T>GCA374888722NR5A1c.316A>C (p.Lys106Gln)
c.39+304A>C (n.39+304A>C)
c.55A>C (p.Lys19Gln)
 gnomAD v4
9g.124500645C>ACA467208243NR5A1c.315G>T (p.Leu105=)
c.39+303G>T (n.39+303G>T)
c.54G>T (p.Leu18=)
9g.124500645C=CA1878469565NR5A1c.315G= (p.Leu105=)
c.39+303G= (n.39+303G=)
c.54G= (p.Leu18=)
9g.124500645C>GCA5235503NR5A1c.315G>C (p.Leu105=)
c.39+303G>C (n.39+303G>C)
c.54G>C (p.Leu18=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500645C>TCA5235504NR5A1c.315G>A (p.Leu105=)
c.39+303G>A (n.39+303G>A)
c.54G>A (p.Leu18=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500646A>CCA374888732NR5A1c.314T>G (p.Leu105Arg)
c.39+302T>G (n.39+302T>G)
c.53T>G (p.Leu18Arg)
9g.124500646A>GCA374888734NR5A1c.314T>C (p.Leu105Pro)
c.39+302T>C (n.39+302T>C)
c.53T>C (p.Leu18Pro)
9g.124500646A>TCA374888735NR5A1c.314T>A (p.Leu105Gln)
c.39+302T>A (n.39+302T>A)
c.53T>A (p.Leu18Gln)
9g.124500647G>ACA467208246NR5A1c.313C>T (p.Leu105=)
c.39+301C>T (n.39+301C>T)
c.52C>T (p.Leu18=)
9g.124500647G>CCA374888737NR5A1c.313C>G (p.Leu105Val)
c.39+301C>G (n.39+301C>G)
c.52C>G (p.Leu18Val)
9g.124500647G>TCA374888739NR5A1c.313C>A (p.Leu105Met)
c.39+301C>A (n.39+301C>A)
c.52C>A (p.Leu18Met)
9g.124500648G>ACA5235505NR5A1c.312C>T (p.Ala104=)
c.39+300C>T (n.39+300C>T)
c.51C>T (p.Ala17=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500648G>CCA467208248NR5A1c.312C>G (p.Ala104=)
c.39+300C>G (n.39+300C>G)
c.51C>G (p.Ala17=)
9g.124500648G=CA1878469567NR5A1c.312C= (p.Ala104=)
c.39+300C= (n.39+300C=)
c.51C= (p.Ala17=)
9g.124500648G>TCA467208249NR5A1c.312C>A (p.Ala104=)
c.39+300C>A (n.39+300C>A)
c.51C>A (p.Ala17=)
9g.124500649G>ACA374888745NR5A1c.311C>T (p.Ala104Val)
c.39+299C>T (n.39+299C>T)
c.50C>T (p.Ala17Val)
9g.124500649G>CCA374888747NR5A1c.311C>G (p.Ala104Gly)
c.39+299C>G (n.39+299C>G)
c.50C>G (p.Ala17Gly)
9g.124500649G>TCA374888749NR5A1c.311C>A (p.Ala104Asp)
c.39+299C>A (n.39+299C>A)
c.50C>A (p.Ala17Asp)
 gnomAD v4
9g.124500650C>ACA374888750NR5A1c.310G>T (p.Ala104Ser)
c.39+298G>T (n.39+298G>T)
c.49G>T (p.Ala17Ser)
9g.124500650C>GCA374888752NR5A1c.310G>C (p.Ala104Pro)
c.39+298G>C (n.39+298G>C)
c.49G>C (p.Ala17Pro)
9g.124500650C>TCA374888753NR5A1c.310G>A (p.Ala104Thr)
c.39+298G>A (n.39+298G>A)
c.49G>A (p.Ala17Thr)
 gnomAD v4
9g.124500654_124500659delCA2695211100NR5A1c.305_310del (p.Asp102_Arg103del)
c.39+293_39+298del (n.39+293_39+298del)
c.44_49del (p.Asp15_Arg16del)
9g.124500651C>ACA467208251NR5A1c.309G>T (p.Arg103=)
c.39+297G>T (n.39+297G>T)
c.48G>T (p.Arg16=)
9g.124500651C>GCA467208252NR5A1c.309G>C (p.Arg103=)
c.39+297G>C (n.39+297G>C)
c.48G>C (p.Arg16=)
9g.124500651C>TCA467208253NR5A1c.309G>A (p.Arg103=)
c.39+297G>A (n.39+297G>A)
c.48G>A (p.Arg16=)
9g.124500652C>ACA374888757NR5A1c.308G>T (p.Arg103Leu)
c.39+296G>T (n.39+296G>T)
c.47G>T (p.Arg16Leu)
 dbSNP gnomAD v3 gnomAD v4
9g.124500652C=CA1878469569NR5A1c.308G= (p.Arg103=)
c.39+296G= (n.39+296G=)
c.47G= (p.Arg16=)
9g.124500652C>GCA374888759NR5A1c.308G>C (p.Arg103Pro)
c.39+296G>C (n.39+296G>C)
c.47G>C (p.Arg16Pro)
 gnomAD v4
9g.124500652C>TCA374888755NR5A1c.308G>A (p.Arg103Gln)
c.39+296G>A (n.39+296G>A)
c.47G>A (p.Arg16Gln)
 dbSNP gnomAD v2 gnomAD v4
9g.124500653G>ACA199729205NR5A1c.307C>T (p.Arg103Trp)
c.39+295C>T (n.39+295C>T)
c.46C>T (p.Arg16Trp)
 dbSNP gnomAD v3 gnomAD v4
9g.124500653G>CCA374888762NR5A1c.307C>G (p.Arg103Gly)
c.39+295C>G (n.39+295C>G)
c.46C>G (p.Arg16Gly)
9g.124500653G=CA1878469573NR5A1c.307C= (p.Arg103=)
c.39+295C= (n.39+295C=)
c.46C= (p.Arg16=)
9g.124500653G>TCA467208257NR5A1c.307C>A (p.Arg103=)
c.39+295C>A (n.39+295C>A)
c.46C>A (p.Arg16=)
9g.124500654G>ACA199729207NR5A1c.306C>T (p.Asp102=)
c.39+294C>T (n.39+294C>T)
c.45C>T (p.Asp15=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.124500654G>CCA374888763NR5A1c.306C>G (p.Asp102Glu)
c.39+294C>G (n.39+294C>G)
c.45C>G (p.Asp15Glu)
9g.124500654G=CA1878469577NR5A1c.306C= (p.Asp102=)
c.39+294C= (n.39+294C=)
c.45C= (p.Asp15=)
9g.124500654G>TCA374888764NR5A1c.306C>A (p.Asp102Glu)
c.39+294C>A (n.39+294C>A)
c.45C>A (p.Asp15Glu)
9g.124500655T>ACA374888765NR5A1c.305A>T (p.Asp102Val)
c.39+293A>T (n.39+293A>T)
c.44A>T (p.Asp15Val)
9g.124500655T>CCA374888766NR5A1c.305A>G (p.Asp102Gly)
c.39+293A>G (n.39+293A>G)
c.44A>G (p.Asp15Gly)
9g.124500655T>GCA374888767NR5A1c.305A>C (p.Asp102Ala)
c.39+293A>C (n.39+293A>C)
c.44A>C (p.Asp15Ala)
 dbSNP
9g.124500656C>ACA374888769NR5A1c.304G>T (p.Asp102Tyr)
c.39+292G>T (n.39+292G>T)
c.43G>T (p.Asp15Tyr)
9g.124500656C>GCA374888771NR5A1c.304G>C (p.Asp102His)
c.39+292G>C (n.39+292G>C)
c.43G>C (p.Asp15His)
9g.124500656C>TCA374888772NR5A1c.304G>A (p.Asp102Asn)
c.39+292G>A (n.39+292G>A)
c.43G>A (p.Asp15Asn)
9g.124500658delCA2739291256NR5A1c.304del (p.Asp102ThrfsTer4)
c.39+292del (n.39+292del)
c.43del (p.Asp15ThrfsTer4)
9g.124500658_124500674delCA2695211101NR5A1c.288_304del (p.Met98GlyfsTer?)
c.39+276_39+292del (n.39+276_39+292del)
c.27_43del (p.Met11GlyfsTer?)
9g.124500657C>ACA467208261NR5A1c.303G>T (p.Arg101=)
c.39+291G>T (n.39+291G>T)
c.42G>T (p.Arg14=)
9g.124500657C>GCA467208262NR5A1c.303G>C (p.Arg101=)
c.39+291G>C (n.39+291G>C)
c.42G>C (p.Arg14=)
9g.124500657C>TCA467208263NR5A1c.303G>A (p.Arg101=)
c.39+291G>A (n.39+291G>A)
c.42G>A (p.Arg14=)
9g.124500658C>ACA374888775NR5A1c.302G>T (p.Arg101Leu)
c.39+290G>T (n.39+290G>T)
c.41G>T (p.Arg14Leu)
9g.124500658C=CA1878469582NR5A1c.302G= (p.Arg101=)
c.39+290G= (n.39+290G=)
c.41G= (p.Arg14=)
9g.124500658C>GCA374888782NR5A1c.302G>C (p.Arg101Pro)
c.39+290G>C (n.39+290G>C)
c.41G>C (p.Arg14Pro)
9g.124500658C>TCA5235506NR5A1c.302G>A (p.Arg101Gln)
c.39+290G>A (n.39+290G>A)
c.41G>A (p.Arg14Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500659G>ACA374888800NR5A1c.301C>T (p.Arg101Trp)
c.39+289C>T (n.39+289C>T)
c.40C>T (p.Arg14Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500659G>CCA374888799NR5A1c.301C>G (p.Arg101Gly)
c.39+289C>G (n.39+289C>G)
c.40C>G (p.Arg14Gly)
9g.124500659G=CA1878469585NR5A1c.301C= (p.Arg101=)
c.39+289C= (n.39+289C=)
c.40C= (p.Arg14=)
9g.124500659G>TCA467208264NR5A1c.301C>A (p.Arg101=)
c.39+289C>A (n.39+289C>A)
c.40C>A (p.Arg14=)
9g.124500660C>ACA374888801NR5A1c.300G>T (p.Lys100Asn)
c.39+288G>T (n.39+288G>T)
c.39G>T (p.Lys13Asn)
9g.124500660C>GCA374888803NR5A1c.300G>C (p.Lys100Asn)
c.39+288G>C (n.39+288G>C)
c.39G>C (p.Lys13Asn)
9g.124500660C>TCA467208265NR5A1c.300G>A (p.Lys100=)
c.39+288G>A (n.39+288G>A)
c.39G>A (p.Lys13=)
9g.124500661T>ACA374888808NR5A1c.299A>T (p.Lys100Met)
c.39+287A>T (n.39+287A>T)
c.38A>T (p.Lys13Met)
9g.124500661T>CCA374888810NR5A1c.299A>G (p.Lys100Arg)
c.39+287A>G (n.39+287A>G)
c.38A>G (p.Lys13Arg)
9g.124500661T>GCA374888812NR5A1c.299A>C (p.Lys100Thr)
c.39+287A>C (n.39+287A>C)
c.38A>C (p.Lys13Thr)
9g.124500662T>ACA374888813NR5A1c.298A>T (p.Lys100Ter)
c.39+286A>T (n.39+286A>T)
c.37A>T (p.Lys13Ter)
9g.124500662T>CCA374888814NR5A1c.298A>G (p.Lys100Glu)
c.39+286A>G (n.39+286A>G)
c.37A>G (p.Lys13Glu)
9g.124500662T>GCA374888815NR5A1c.298A>C (p.Lys100Gln)
c.39+286A>C (n.39+286A>C)
c.37A>C (p.Lys13Gln)
9g.124500663G>ACA467208269NR5A1c.297C>T (p.Tyr99=)
c.39+285C>T (n.39+285C>T)
c.36C>T (p.Tyr12=)
9g.124500663G>CCA374888817NR5A1c.297C>G (p.Tyr99Ter)
c.39+285C>G (n.39+285C>G)
c.36C>G (p.Tyr12Ter)
9g.124500663G>TCA374888818NR5A1c.297C>A (p.Tyr99Ter)
c.39+285C>A (n.39+285C>A)
c.36C>A (p.Tyr12Ter)
9g.124500664T>ACA374888819NR5A1c.296A>T (p.Tyr99Phe)
c.39+284A>T (n.39+284A>T)
c.35A>T (p.Tyr12Phe)
9g.124500664T>CCA374888821NR5A1c.296A>G (p.Tyr99Cys)
c.39+284A>G (n.39+284A>G)
c.35A>G (p.Tyr12Cys)
9g.124500664T>GCA374888822NR5A1c.296A>C (p.Tyr99Ser)
c.39+284A>C (n.39+284A>C)
c.35A>C (p.Tyr12Ser)
9g.124500665A>CCA374888823NR5A1c.295T>G (p.Tyr99Asp)
c.39+283T>G (n.39+283T>G)
c.34T>G (p.Tyr12Asp)
9g.124500665A>GCA374888826NR5A1c.295T>C (p.Tyr99His)
c.39+283T>C (n.39+283T>C)
c.34T>C (p.Tyr12His)
9g.124500665A>TCA374888825NR5A1c.295T>A (p.Tyr99Asn)
c.39+283T>A (n.39+283T>A)
c.34T>A (p.Tyr12Asn)
9g.124500666C>ACA374888829NR5A1c.294G>T (p.Met98Ile)
c.39+282G>T (n.39+282G>T)
c.33G>T (p.Met11Ile)
9g.124500666C>GCA374888833NR5A1c.294G>C (p.Met98Ile)
c.39+282G>C (n.39+282G>C)
c.33G>C (p.Met11Ile)
9g.124500666C>TCA374888831NR5A1c.294G>A (p.Met98Ile)
c.39+282G>A (n.39+282G>A)
c.33G>A (p.Met11Ile)
9g.124500667A=CA1878469591NR5A1c.293T= (p.Met98=)
c.39+281T= (n.39+281T=)
c.32T= (p.Met11=)
9g.124500667A>CCA374888836NR5A1c.293T>G (p.Met98Arg)
c.39+281T>G (n.39+281T>G)
c.32T>G (p.Met11Arg)
9g.124500667A>GCA5235507NR5A1c.293T>C (p.Met98Thr)
c.39+281T>C (n.39+281T>C)
c.32T>C (p.Met11Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500667A>TCA374888837NR5A1c.293T>A (p.Met98Lys)
c.39+281T>A (n.39+281T>A)
c.32T>A (p.Met11Lys)
9g.124500668T>ACA374888842NR5A1c.292A>T (p.Met98Leu)
c.39+280A>T (n.39+280A>T)
c.31A>T (p.Met11Leu)
9g.124500668T>CCA374888846NR5A1c.292A>G (p.Met98Val)
c.39+280A>G (n.39+280A>G)
c.31A>G (p.Met11Val)
9g.124500668T>GCA374888844NR5A1c.292A>C (p.Met98Leu)
c.39+280A>C (n.39+280A>C)
c.31A>C (p.Met11Leu)
9g.124500669C>ACA467208274NR5A1c.291G>T (p.Pro97=)
c.39+279G>T (n.39+279G>T)
c.30G>T (p.Pro10=)
 dbSNP
9g.124500669C=CA1878469597NR5A1c.291G= (p.Pro97=)
c.39+279G= (n.39+279G=)
c.30G= (p.Pro10=)
9g.124500669C>GCA199729218NR5A1c.291G>C (p.Pro97=)
c.39+279G>C (n.39+279G>C)
c.30G>C (p.Pro10=)
 dbSNP
9g.124500669C>TCA5235508NR5A1c.291G>A (p.Pro97=)
c.39+279G>A (n.39+279G>A)
c.30G>A (p.Pro10=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500670G>ACA374888855NR5A1c.290C>T (p.Pro97Leu)
c.39+278C>T (n.39+278C>T)
c.29C>T (p.Pro10Leu)
 dbSNP gnomAD v2 gnomAD v4
9g.124500670G>CCA374888851NR5A1c.290C>G (p.Pro97Arg)
c.39+278C>G (n.39+278C>G)
c.29C>G (p.Pro10Arg)
9g.124500670G=CA1878469600NR5A1c.290C= (p.Pro97=)
c.39+278C= (n.39+278C=)
c.29C= (p.Pro10=)
9g.124500670G>TCA374888853NR5A1c.290C>A (p.Pro97Gln)
c.39+278C>A (n.39+278C>A)
c.29C>A (p.Pro10Gln)
9g.124500671G>ACA374888858NR5A1c.289C>T (p.Pro97Ser)
c.39+277C>T (n.39+277C>T)
c.28C>T (p.Pro10Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.124500671G>CCA374888859NR5A1c.289C>G (p.Pro97Ala)
c.39+277C>G (n.39+277C>G)
c.28C>G (p.Pro10Ala)
9g.124500671G=CA1878469603NR5A1c.289C= (p.Pro97=)
c.39+277C= (n.39+277C=)
c.28C= (p.Pro10=)
9g.124500671G>TCA374888860NR5A1c.289C>A (p.Pro97Thr)
c.39+277C>A (n.39+277C>A)
c.28C>A (p.Pro10Thr)
9g.124500672C>ACA467208277NR5A1c.288G>T (p.Gly96=)
c.39+276G>T (n.39+276G>T)
c.27G>T (p.Gly9=)
9g.124500672C=CA1878469606NR5A1c.288G= (p.Gly96=)
c.39+276G= (n.39+276G=)
c.27G= (p.Gly9=)
9g.124500672C>GCA467208278NR5A1c.288G>C (p.Gly96=)
c.39+276G>C (n.39+276G>C)
c.27G>C (p.Gly9=)
9g.124500672C>TCA467208279NR5A1c.288G>A (p.Gly96=)
c.39+276G>A (n.39+276G>A)
c.27G>A (p.Gly9=)
 dbSNP
9g.124500673C>ACA374888861NR5A1c.287G>T (p.Gly96Val)
c.39+275G>T (n.39+275G>T)
c.26G>T (p.Gly9Val)
9g.124500673C>GCA374888863NR5A1c.287G>C (p.Gly96Ala)
c.39+275G>C (n.39+275G>C)
c.26G>C (p.Gly9Ala)
9g.124500673C>TCA374888865NR5A1c.287G>A (p.Gly96Glu)
c.39+275G>A (n.39+275G>A)
c.26G>A (p.Gly9Glu)
9g.124500674C>ACA374888868NR5A1c.286G>T (p.Gly96Trp)
c.39+274G>T (n.39+274G>T)
c.25G>T (p.Gly9Trp)
9g.124500674C>GCA374888869NR5A1c.286G>C (p.Gly96Arg)
c.39+274G>C (n.39+274G>C)
c.25G>C (p.Gly9Arg)
9g.124500674C>TCA374888870NR5A1c.286G>A (p.Gly96Arg)
c.39+274G>A (n.39+274G>A)
c.25G>A (p.Gly9Arg)
 gnomAD v4 COSMIC
9g.124500675A=CA1878469609NR5A1c.285T= (p.Phe95=)
c.39+273T= (n.39+273T=)
c.24T= (p.Phe8=)
9g.124500675A>CCA374888873NR5A1c.285T>G (p.Phe95Leu)
c.39+273T>G (n.39+273T>G)
c.24T>G (p.Phe8Leu)
9g.124500675A>GCA467208283NR5A1c.285T>C (p.Phe95=)
c.39+273T>C (n.39+273T>C)
c.24T>C (p.Phe8=)
 dbSNP gnomAD v3 gnomAD v4
9g.124500675A>TCA374888875NR5A1c.285T>A (p.Phe95Leu)
c.39+273T>A (n.39+273T>A)
c.24T>A (p.Phe8Leu)
9g.124500676A>CCA374888878NR5A1c.284T>G (p.Phe95Cys)
c.39+272T>G (n.39+272T>G)
c.23T>G (p.Phe8Cys)
9g.124500676A>GCA374888884NR5A1c.284T>C (p.Phe95Ser)
c.39+272T>C (n.39+272T>C)
c.23T>C (p.Phe8Ser)
 ClinVar dbSNP
9g.124500676A>TCA374888881NR5A1c.284T>A (p.Phe95Tyr)
c.39+272T>A (n.39+272T>A)
c.23T>A (p.Phe8Tyr)
9g.124500677A>CCA374888888NR5A1c.283T>G (p.Phe95Val)
c.39+271T>G (n.39+271T>G)
c.22T>G (p.Phe8Val)
9g.124500677A>GCA374888889NR5A1c.283T>C (p.Phe95Leu)
c.39+271T>C (n.39+271T>C)
c.22T>C (p.Phe8Leu)
9g.124500677A>TCA374888891NR5A1c.283T>A (p.Phe95Ile)
c.39+271T>A (n.39+271T>A)
c.22T>A (p.Phe8Ile)
9g.124500678C>ACA374888896NR5A1c.282G>T (p.Lys94Asn)
c.39+270G>T (n.39+270G>T)
c.21G>T (p.Lys7Asn)
9g.124500678C>GCA374888898NR5A1c.282G>C (p.Lys94Asn)
c.39+270G>C (n.39+270G>C)
c.21G>C (p.Lys7Asn)
9g.124500678C>TCA467208285NR5A1c.282G>A (p.Lys94=)
c.39+270G>A (n.39+270G>A)
c.21G>A (p.Lys7=)
 gnomAD v4
9g.124500679T>ACA374888902NR5A1c.281A>T (p.Lys94Met)
c.39+269A>T (n.39+269A>T)
c.20A>T (p.Lys7Met)
9g.124500679T>CCA374888905NR5A1c.281A>G (p.Lys94Arg)
c.39+269A>G (n.39+269A>G)
c.20A>G (p.Lys7Arg)
9g.124500679T>GCA374888908NR5A1c.281A>C (p.Lys94Thr)
c.39+269A>C (n.39+269A>C)
c.20A>C (p.Lys7Thr)
9g.124500680T>ACA374888912NR5A1c.280A>T (p.Lys94Ter)
c.39+268A>T (n.39+268A>T)
c.19A>T (p.Lys7Ter)
9g.124500680T>CCA374888915NR5A1c.280A>G (p.Lys94Glu)
c.39+268A>G (n.39+268A>G)
c.19A>G (p.Lys7Glu)
9g.124500680T>GCA374888918NR5A1c.280A>C (p.Lys94Gln)
c.39+268A>C (n.39+268A>C)
c.19A>C (p.Lys7Gln)
9g.124500681G>ACA467208287NR5A1c.279C>T (p.Asn93=)
c.39+267C>T (n.39+267C>T)
c.18C>T (p.Asn6=)
 dbSNP gnomAD v2 gnomAD v4
9g.124500681G>CCA374888922NR5A1c.279C>G (p.Asn93Lys)
c.39+267C>G (n.39+267C>G)
c.18C>G (p.Asn6Lys)
9g.124500681G=CA1878469611NR5A1c.279C= (p.Asn93=)
c.39+267C= (n.39+267C=)
c.18C= (p.Asn6=)
9g.124500681G>TCA374888925NR5A1c.279C>A (p.Asn93Lys)
c.39+267C>A (n.39+267C>A)
c.18C>A (p.Asn6Lys)
9g.124500682T>ACA374888930NR5A1c.278A>T (p.Asn93Ile)
c.39+266A>T (n.39+266A>T)
c.17A>T (p.Asn6Ile)
9g.124500682T>CCA374888933NR5A1c.278A>G (p.Asn93Ser)
c.39+266A>G (n.39+266A>G)
c.17A>G (p.Asn6Ser)
9g.124500682T>GCA374888935NR5A1c.278A>C (p.Asn93Thr)
c.39+266A>C (n.39+266A>C)
c.17A>C (p.Asn6Thr)
9g.124500683T>ACA374888938NR5A1c.277A>T (p.Asn93Tyr)
c.39+265A>T (n.39+265A>T)
c.16A>T (p.Asn6Tyr)
9g.124500683T>CCA374888940NR5A1c.277A>G (p.Asn93Asp)
c.39+265A>G (n.39+265A>G)
c.16A>G (p.Asn6Asp)
9g.124500683T>GCA374888943NR5A1c.277A>C (p.Asn93His)
c.39+265A>C (n.39+265A>C)
c.16A>C (p.Asn6His)
9g.124500684C>ACA467208290NR5A1c.276G>T (p.Arg92=)
c.39+264G>T (n.39+264G>T)
c.15G>T (p.Arg5=)
9g.124500684C=CA1878469614NR5A1c.276G= (p.Arg92=)
c.39+264G= (n.39+264G=)
c.15G= (p.Arg5=)
9g.124500684C>GCA467208291NR5A1c.276G>C (p.Arg92=)
c.39+264G>C (n.39+264G>C)
c.15G>C (p.Arg5=)
9g.124500684C>TCA199729224NR5A1c.276G>A (p.Arg92=)
c.39+264G>A (n.39+264G>A)
c.15G>A (p.Arg5=)
 dbSNP gnomAD v3 gnomAD v4
9g.124500685C>ACA374888957NR5A1c.275G>T (p.Arg92Leu)
c.39+263G>T (n.39+263G>T)
c.14G>T (p.Arg5Leu)
9g.124500685C=CA1878469616NR5A1c.275G= (p.Arg92=)
c.39+263G= (n.39+263G=)
c.14G= (p.Arg5=)
9g.124500685C>GCA374888960NR5A1c.275G>C (p.Arg92Pro)
c.39+263G>C (n.39+263G>C)
c.14G>C (p.Arg5Pro)
9g.124500685C>TCA122711NR5A1c.275G>A (p.Arg92Gln)
c.39+263G>A (n.39+263G>A)
c.14G>A (p.Arg5Gln)
 ClinVar dbSNP gnomAD v4
9g.124500686G>ACA10588831NR5A1c.274C>T (p.Arg92Trp)
c.39+262C>T (n.39+262C>T)
c.13C>T (p.Arg5Trp)
 ClinVar dbSNP
9g.124500686G>CCA374888970NR5A1c.274C>G (p.Arg92Gly)
c.39+262C>G (n.39+262C>G)
c.13C>G (p.Arg5Gly)
9g.124500686G=CA1878469626NR5A1c.274C= (p.Arg92=)
c.39+262C= (n.39+262C=)
c.13C= (p.Arg5=)
9g.124500686G>TCA467208293NR5A1c.274C>A (p.Arg92=)
c.39+262C>A (n.39+262C>A)
c.13C>A (p.Arg5=)
9g.124500687G>ACA467208294NR5A1c.273C>T (p.Gly91=)
c.39+261C>T (n.39+261C>T)
c.12C>T (p.Gly4=)
9g.124500687G>CCA467208296NR5A1c.273C>G (p.Gly91=)
c.39+261C>G (n.39+261C>G)
c.12C>G (p.Gly4=)
9g.124500687G>TCA467208295NR5A1c.273C>A (p.Gly91=)
c.39+261C>A (n.39+261C>A)
c.12C>A (p.Gly4=)
9g.124500688C>ACA374888977NR5A1c.272G>T (p.Gly91Val)
c.39+260G>T (n.39+260G>T)
c.11G>T (p.Gly4Val)
9g.124500688C>GCA374888974NR5A1c.272G>C (p.Gly91Ala)
c.39+260G>C (n.39+260G>C)
c.11G>C (p.Gly4Ala)
9g.124500688C>TCA374888975NR5A1c.272G>A (p.Gly91Asp)
c.39+260G>A (n.39+260G>A)
c.11G>A (p.Gly4Asp)
9g.124500689C>ACA374888981NR5A1c.271G>T (p.Gly91Cys)
c.39+259G>T (n.39+259G>T)
c.10G>T (p.Gly4Cys)
9g.124500689C=CA1878469631NR5A1c.271G= (p.Gly91=)
c.39+259G= (n.39+259G=)
c.10G= (p.Gly4=)
9g.124500689C>GCA374888983NR5A1c.271G>C (p.Gly91Arg)
c.39+259G>C (n.39+259G>C)
c.10G>C (p.Gly4Arg)
9g.124500689C>TCA122717NR5A1c.271G>A (p.Gly91Ser)
c.39+259G>A (n.39+259G>A)
c.10G>A (p.Gly4Ser)
 ClinVar dbSNP
9g.124500690A>CCA467208300NR5A1c.270T>G (p.Gly90=)
c.39+258T>G (n.39+258T>G)
c.9T>G (p.Gly3=)
9g.124500690A>GCA467208301NR5A1c.270T>C (p.Gly90=)
c.39+258T>C (n.39+258T>C)
c.9T>C (p.Gly3=)
 gnomAD v4
9g.124500690A>TCA467208302NR5A1c.270T>A (p.Gly90=)
c.39+258T>A (n.39+258T>A)
c.9T>A (p.Gly3=)
9g.124500691C>ACA374888989NR5A1c.269G>T (p.Gly90Val)
c.39+257G>T (n.39+257G>T)
c.8G>T (p.Gly3Val)
9g.124500691C>GCA374888991NR5A1c.269G>C (p.Gly90Ala)
c.39+257G>C (n.39+257G>C)
c.8G>C (p.Gly3Ala)
 ClinVar
9g.124500691C>TCA374888994NR5A1c.269G>A (p.Gly90Asp)
c.39+257G>A (n.39+257G>A)
c.8G>A (p.Gly3Asp)
9g.124500694dupCA2842889852NR5A1c.269dup (p.Gly91TrpfsTer?)
c.39+257dup (n.39+257dup)
c.8dup (p.Gly4TrpfsTer?)
9g.124500692C>ACA374888999NR5A1c.268G>T (p.Gly90Cys)
c.39+256G>T (n.39+256G>T)
c.7G>T (p.Gly3Cys)
9g.124500692C>GCA374889002NR5A1c.268G>C (p.Gly90Arg)
c.39+256G>C (n.39+256G>C)
c.7G>C (p.Gly3Arg)
9g.124500692C>TCA374889005NR5A1c.268G>A (p.Gly90Ser)
c.39+256G>A (n.39+256G>A)
c.7G>A (p.Gly3Ser)
 COSMIC
9g.124500693C>ACA374889008NR5A1c.267G>T (p.Arg89Ser)
c.39+255G>T (n.39+255G>T)
c.6G>T (p.Arg2Ser)
9g.124500693C=CA1878469634NR5A1c.267G= (p.Arg89=)
c.39+255G= (n.39+255G=)
c.6G= (p.Arg2=)
9g.124500693C>GCA374889010NR5A1c.267G>C (p.Arg89Ser)
c.39+255G>C (n.39+255G>C)
c.6G>C (p.Arg2Ser)
9g.124500693C>TCA467208304NR5A1c.267G>A (p.Arg89=)
c.39+255G>A (n.39+255G>A)
c.6G>A (p.Arg2=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500694C>ACA374889023NR5A1c.266G>T (p.Arg89Met)
c.39+254G>T (n.39+254G>T)
c.5G>T (p.Arg2Met)
9g.124500694C>GCA374889021NR5A1c.266G>C (p.Arg89Thr)
c.39+254G>C (n.39+254G>C)
c.5G>C (p.Arg2Thr)
9g.124500694C>TCA374889015NR5A1c.266G>A (p.Arg89Lys)
c.39+254G>A (n.39+254G>A)
c.5G>A (p.Arg2Lys)
9g.124500695delCA2695211102NR5A1c.265del (p.Arg89GlyfsTer17)
c.39+253del (n.39+253del)
c.4del (p.Arg2GlyfsTer17)
9g.124500695T>ACA374889027NR5A1c.265A>T (p.Arg89Trp)
c.39+253A>T (n.39+253A>T)
c.4A>T (p.Arg2Trp)
9g.124500695T>CCA374889032NR5A1c.265A>G (p.Arg89Gly)
c.39+253A>G (n.39+253A>G)
c.4A>G (p.Arg2Gly)
9g.124500695T>GCA467208305NR5A1c.265A>C (p.Arg89=)
c.39+253A>C (n.39+253A>C)
c.4A>C (p.Arg2=)
9g.124500696C>ACA374889038NR5A1c.264G>T (p.Met88Ile)
c.39+252G>T (n.39+252G>T)
c.3G>T (p.Met1Ile)
9g.124500696C>GCA374889041NR5A1c.264G>C (p.Met88Ile)
c.39+252G>C (n.39+252G>C)
c.3G>C (p.Met1Ile)
9g.124500696C>TCA374889043NR5A1c.264G>A (p.Met88Ile)
c.39+252G>A (n.39+252G>A)
c.3G>A (p.Met1Ile)
9g.124500697A>CCA374889047NR5A1c.263T>G (p.Met88Arg)
c.39+251T>G (n.39+251T>G)
c.2T>G (p.Met1Arg)
9g.124500697A>GCA374889049NR5A1c.263T>C (p.Met88Thr)
c.39+251T>C (n.39+251T>C)
c.2T>C (p.Met1Thr)
 ClinVar
9g.124500697A>TCA374889052NR5A1c.263T>A (p.Met88Lys)
c.39+251T>A (n.39+251T>A)
c.2T>A (p.Met1Lys)
9g.124500698T>ACA374889055NR5A1c.262A>T (p.Met88Leu)
c.39+250A>T (n.39+250A>T)
c.1A>T (p.Met1Leu)
9g.124500698T>CCA374889057NR5A1c.262A>G (p.Met88Val)
c.39+250A>G (n.39+250A>G)
c.1A>G (p.Met1Val)
 gnomAD v4
9g.124500698T>GCA374889059NR5A1c.262A>C (p.Met88Leu)
c.39+250A>C (n.39+250A>C)
c.1A>C (p.Met1Leu)
9g.124500699A>CCA467208309NR5A1c.261T>G (p.Arg87=)
c.39+249T>G (n.39+249T>G)
c.-1T>G (n.-1T>G)
9g.124500699A>GCA467208310NR5A1c.261T>C (p.Arg87=)
c.39+249T>C (n.39+249T>C)
c.-1T>C (n.-1T>C)
 gnomAD v4
9g.124500699A>TCA467208311NR5A1c.261T>A (p.Arg87=)
c.39+249T>A (n.39+249T>A)
c.-1T>A (n.-1T>A)
9g.124500700C>ACA374889063NR5A1c.260G>T (p.Arg87Leu)
c.39+248G>T (n.39+248G>T)
c.-2G>T (n.-2G>T)
9g.124500700C=CA1878469642NR5A1c.260G= (p.Arg87=)
c.39+248G= (n.39+248G=)
c.-2G= (n.-2G=)
9g.124500700C>GCA374889067NR5A1c.260G>C (p.Arg87Pro)
c.39+248G>C (n.39+248G>C)
c.-2G>C (n.-2G>C)
9g.124500700C>TCA374889070NR5A1c.260G>A (p.Arg87His)
c.39+248G>A (n.39+248G>A)
c.-2G>A (n.-2G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.124500701G>ACA199729238NR5A1c.259C>T (p.Arg87Cys)
c.39+247C>T (n.39+247C>T)
c.-3C>T (n.-3C>T)
 ClinVar dbSNP gnomAD v4
9g.124500701G>CCA374889076NR5A1c.259C>G (p.Arg87Gly)
c.39+247C>G (n.39+247C>G)
c.-3C>G (n.-3C>G)
9g.124500701G=CA1878469646NR5A1c.259C= (p.Arg87=)
c.39+247C= (n.39+247C=)
c.-3C= (n.-3C=)
9g.124500701G>TCA374889078NR5A1c.259C>A (p.Arg87Ser)
c.39+247C>A (n.39+247C>A)
c.-3C>A (n.-3C>A)
 gnomAD v4
9g.124500702G>ACA467208312NR5A1c.258C>T (p.Asp86=)
c.39+246C>T (n.39+246C>T)
c.-4C>T (n.-4C>T)
9g.124500702G>CCA374889083NR5A1c.258C>G (p.Asp86Glu)
c.39+246C>G (n.39+246C>G)
c.-4C>G (n.-4C>G)
9g.124500702G>TCA374889086NR5A1c.258C>A (p.Asp86Glu)
c.39+246C>A (n.39+246C>A)
c.-4C>A (n.-4C>A)
9g.124500703T>ACA5235509NR5A1c.257A>T (p.Asp86Val)
c.39+245A>T (n.39+245A>T)
c.-5A>T (n.-5A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500703T>CCA374889093NR5A1c.257A>G (p.Asp86Gly)
c.39+245A>G (n.39+245A>G)
c.-5A>G (n.-5A>G)
9g.124500703T>GCA374889096NR5A1c.257A>C (p.Asp86Ala)
c.39+245A>C (n.39+245A>C)
c.-5A>C (n.-5A>C)
9g.124500703T=CA1878469650NR5A1c.257A= (p.Asp86=)
c.39+245A= (n.39+245A=)
c.-5A= (n.-5A=)
9g.124500704C>ACA374889099NR5A1c.256G>T (p.Asp86Tyr)
c.39+244G>T (n.39+244G>T)
c.-6G>T (n.-6G>T)
9g.124500704C=CA1878469654NR5A1c.256G= (p.Asp86=)
c.39+244G= (n.39+244G=)
c.-6G= (n.-6G=)
9g.124500704C>GCA374889102NR5A1c.256G>C (p.Asp86His)
c.39+244G>C (n.39+244G>C)
c.-6G>C (n.-6G>C)
9g.124500704C>TCA374889106NR5A1c.256G>A (p.Asp86Asn)
c.39+244G>A (n.39+244G>A)
c.-6G>A (n.-6G>A)
 dbSNP gnomAD v3 gnomAD v4
9g.124500705A>CCA467208314NR5A1c.255T>G (p.Ala85=)
c.39+243T>G (n.39+243T>G)
c.-7T>G (n.-7T>G)
9g.124500705A>GCA467208315NR5A1c.255T>C (p.Ala85=)
c.39+243T>C (n.39+243T>C)
c.-7T>C (n.-7T>C)
9g.124500705A>TCA467208316NR5A1c.255T>A (p.Ala85=)
c.39+243T>A (n.39+243T>A)
c.-7T>A (n.-7T>A)
9g.124500706G>ACA374889110NR5A1c.254C>T (p.Ala85Val)
c.39+242C>T (n.39+242C>T)
c.-8C>T (n.-8C>T)
9g.124500706G>CCA374889114NR5A1c.254C>G (p.Ala85Gly)
c.39+242C>G (n.39+242C>G)
c.-8C>G (n.-8C>G)
9g.124500706G>TCA374889118NR5A1c.254C>A (p.Ala85Asp)
c.39+242C>A (n.39+242C>A)
c.-8C>A (n.-8C>A)
9g.124500710_124500711delCA2695211103NR5A1c.253_254del (p.Ala85Ter)
c.39+241_39+242del (n.39+241_39+242del)
c.-9_-8del (n.-9_-8del)
9g.124500707C>ACA374889120NR5A1c.253G>T (p.Ala85Ser)
c.39+241G>T (n.39+241G>T)
c.-9G>T (n.-9G>T)
9g.124500707C=CA1878469657NR5A1c.253G= (p.Ala85=)
c.39+241G= (n.39+241G=)
c.-9G= (n.-9G=)
9g.124500707C>GCA374889119NR5A1c.253G>C (p.Ala85Pro)
c.39+241G>C (n.39+241G>C)
c.-9G>C (n.-9G>C)
9g.124500707C>TCA199729248NR5A1c.253G>A (p.Ala85Thr)
c.39+241G>A (n.39+241G>A)
c.-9G>A (n.-9G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.124500708G>ACA5235510NR5A1c.252C>T (p.Arg84=)
c.39+240C>T (n.39+240C>T)
c.-10C>T (n.-10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500708G>CCA199729257NR5A1c.252C>G (p.Arg84=)
c.39+240C>G (n.39+240C>G)
c.-10C>G (n.-10C>G)
 dbSNP gnomAD v2 gnomAD v4
9g.124500708G=CA1878469661NR5A1c.252C= (p.Arg84=)
c.39+240C= (n.39+240C=)
c.-10C= (n.-10C=)
9g.124500708G>TCA467208323NR5A1c.252C>A (p.Arg84=)
c.39+240C>A (n.39+240C>A)
c.-10C>A (n.-10C>A)
9g.124500710_124500756delCA2695199408NR5A1c.245-39_252del
c.39+194_39+240del (n.39+194_39+240del)
c.-17-39_-10del
 ClinVar
9g.124500709C>ACA374889123NR5A1c.251G>T (p.Arg84Leu)
c.39+239G>T (n.39+239G>T)
c.-11G>T (n.-11G>T)
 dbSNP
9g.124500709C=CA1878469665NR5A1c.251G= (p.Arg84=)
c.39+239G= (n.39+239G=)
c.-11G= (n.-11G=)
9g.124500709C>GCA374889127NR5A1c.251G>C (p.Arg84Pro)
c.39+239G>C (n.39+239G>C)
c.-11G>C (n.-11G>C)
9g.124500709C>TCA5235511NR5A1c.251G>A (p.Arg84His)
c.39+239G>A (n.39+239G>A)
c.-11G>A (n.-11G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500710G>ACA374889133NR5A1c.250C>T (p.Arg84Cys)
c.39+238C>T (n.39+238C>T)
c.-12C>T (n.-12C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.124500710G>CCA374889137NR5A1c.250C>G (p.Arg84Gly)
c.39+238C>G (n.39+238C>G)
c.-12C>G (n.-12C>G)
9g.124500710G=CA1878469668NR5A1c.250C= (p.Arg84=)
c.39+238C= (n.39+238C=)
c.-12C= (n.-12C=)
9g.124500710G>TCA374889139NR5A1c.250C>A (p.Arg84Ser)
c.39+238C>A (n.39+238C>A)
c.-12C>A (n.-12C>A)
 gnomAD v4
9g.124500711C>ACA467208328NR5A1c.249G>T (p.Val83=)
c.39+237G>T (n.39+237G>T)
c.-13G>T (n.-13G>T)
9g.124500711C=CA1878469672NR5A1c.249G= (p.Val83=)
c.39+237G= (n.39+237G=)
c.-13G= (n.-13G=)
9g.124500711C>GCA467208330NR5A1c.249G>C (p.Val83=)
c.39+237G>C (n.39+237G>C)
c.-13G>C (n.-13G>C)
 dbSNP
9g.124500711C>TCA467208331NR5A1c.249G>A (p.Val83=)
c.39+237G>A (n.39+237G>A)
c.-13G>A (n.-13G>A)
 dbSNP

Number of alleles fetched