Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.93585189_93585192delCA2674596579NR2F1c.91_94del (p.Gly31SerfsTer?)
c.166_169del (p.Gly56SerfsTer?)
c.85-72_85-69del (n.85-72_85-69del)
gnomAD v4
5g.93585191C>ACA445722073NR2F1c.93C>A (p.Gly31=)
c.168C>A (p.Gly56=)
c.85-70C>A (n.85-70C>A)
gnomAD v4
5g.93585191C>GCA445722075NR2F1c.93C>G (p.Gly31=)
c.168C>G (p.Gly56=)
c.85-70C>G (n.85-70C>G)
5g.93585191C>TCA445722074NR2F1c.93C>T (p.Gly31=)
c.168C>T (p.Gly56=)
c.85-70C>T (n.85-70C>T)
5g.93585192C>ACA360525673NR2F1c.94C>A (p.Gln32Lys)
c.169C>A (p.Gln57Lys)
c.85-69C>A (n.85-69C>A)
5g.93585192C=CA1564182766NR2F1c.94C= (p.Gln32=)
c.169C= (p.Gln57=)
c.85-69C= (n.85-69C=)
5g.93585192C>GCA360525674NR2F1c.94C>G (p.Gln32Glu)
c.169C>G (p.Gln57Glu)
c.85-69C>G (n.85-69C>G)
5g.93585192C>TCA360525675NR2F1c.94C>T (p.Gln32Ter)
c.169C>T (p.Gln57Ter)
c.85-69C>T (n.85-69C>T)
ClinVar dbSNP
5g.93585193A>CCA360525676NR2F1c.95A>C (p.Gln32Pro)
c.170A>C (p.Gln57Pro)
c.85-68A>C (n.85-68A>C)
5g.93585193A>GCA360525677NR2F1c.95A>G (p.Gln32Arg)
c.170A>G (p.Gln57Arg)
c.85-68A>G (n.85-68A>G)
5g.93585193A>TCA360525678NR2F1c.95A>T (p.Gln32Leu)
c.170A>T (p.Gln57Leu)
c.85-68A>T (n.85-68A>T)
5g.93585194G>ACA445722076NR2F1c.96G>A (p.Gln32=)
c.171G>A (p.Gln57=)
c.85-67G>A (n.85-67G>A)
5g.93585194G>CCA360525680NR2F1c.96G>C (p.Gln32His)
c.171G>C (p.Gln57His)
c.85-67G>C (n.85-67G>C)
5g.93585194G=CA1564182767NR2F1c.96G= (p.Gln32=)
c.171G= (p.Gln57=)
c.85-67G= (n.85-67G=)
5g.93585194G>TCA360525679NR2F1c.96G>T (p.Gln32His)
c.171G>T (p.Gln57His)
c.85-67G>T (n.85-67G>T)
dbSNP gnomAD v3 gnomAD v4
5g.93585194_93585209delCA2674596588NR2F1c.96_111del (p.Gly34ProfsTer?)
c.171_186del (p.Gly59ProfsTer?)
c.85-67_85-52del (n.85-67_85-52del)
gnomAD v4
5g.93585194_93585212delinsGCCCGGAGCGCCCGCCACCCA1564182768NR2F1c.96_114delinsGCCCGGAGCGCCCGCCACC (p.Gln32=)
c.171_189delinsGCCCGGAGCGCCCGCCACC (p.Gln57=)
c.85-67_85-49delinsGCCCGGAGCGCCCGCCACC (n.85-67_85-49delinsGCCCGGAGCGCCCGCCACC)
5g.93585195C>ACA123266248NR2F1c.97C>A (p.Pro33Thr)
c.172C>A (p.Pro58Thr)
c.85-66C>A (n.85-66C>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.93585195C=CA1564182769NR2F1c.97C= (p.Pro33=)
c.172C= (p.Pro58=)
c.85-66C= (n.85-66C=)
5g.93585195C>GCA360525681NR2F1c.97C>G (p.Pro33Ala)
c.172C>G (p.Pro58Ala)
c.85-66C>G (n.85-66C>G)
gnomAD v4
5g.93585195C>TCA360525682NR2F1c.97C>T (p.Pro33Ser)
c.172C>T (p.Pro58Ser)
c.85-66C>T (n.85-66C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.93585200_93585217delCA561258797NR2F1c.102_119del (p.Ala35_Gly40del)
c.177_194del (p.Ala60_Gly65del)
c.85-61_85-44del (n.85-61_85-44del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.93585196C>ACA360525683NR2F1c.98C>A (p.Pro33His)
c.173C>A (p.Pro58His)
c.85-65C>A (n.85-65C>A)
ClinVar gnomAD v3 gnomAD v4
5g.93585196C>GCA360525684NR2F1c.98C>G (p.Pro33Arg)
c.173C>G (p.Pro58Arg)
c.85-65C>G (n.85-65C>G)
5g.93585196C>TCA360525685NR2F1c.98C>T (p.Pro33Leu)
c.173C>T (p.Pro58Leu)
c.85-65C>T (n.85-65C>T)
5g.93585197C>ACA445722077NR2F1c.99C>A (p.Pro33=)
c.174C>A (p.Pro58=)
c.85-64C>A (n.85-64C>A)
ClinVar dbSNP
5g.93585197C=CA1564182770NR2F1c.99C= (p.Pro33=)
c.174C= (p.Pro58=)
c.85-64C= (n.85-64C=)
5g.93585197C>GCA445722078NR2F1c.99C>G (p.Pro33=)
c.174C>G (p.Pro58=)
c.85-64C>G (n.85-64C>G)
dbSNP
5g.93585197C>TCA445722079NR2F1c.99C>T (p.Pro33=)
c.174C>T (p.Pro58=)
c.85-64C>T (n.85-64C>T)
dbSNP gnomAD v2 gnomAD v4
5g.93585198G>ACA360525688NR2F1c.100G>A (p.Gly34Arg)
c.175G>A (p.Gly59Arg)
c.85-63G>A (n.85-63G>A)
5g.93585198G>CCA360525686NR2F1c.100G>C (p.Gly34Arg)
c.175G>C (p.Gly59Arg)
c.85-63G>C (n.85-63G>C)
5g.93585198G>TCA360525687NR2F1c.100G>T (p.Gly34Ter)
c.175G>T (p.Gly59Ter)
c.85-63G>T (n.85-63G>T)
5g.93585199G>ACA360525689NR2F1c.101G>A (p.Gly34Glu)
c.176G>A (p.Gly59Glu)
c.85-62G>A (n.85-62G>A)
5g.93585199G>CCA360525690NR2F1c.101G>C (p.Gly34Ala)
c.176G>C (p.Gly59Ala)
c.85-62G>C (n.85-62G>C)
gnomAD v4
5g.93585199G>TCA360525691NR2F1c.101G>T (p.Gly34Val)
c.176G>T (p.Gly59Val)
c.85-62G>T (n.85-62G>T)
5g.93585200A=CA1564182771NR2F1c.102A= (p.Gly34=)
c.177A= (p.Gly59=)
c.85-61A= (n.85-61A=)
5g.93585200A>CCA445722082NR2F1c.102A>C (p.Gly34=)
c.177A>C (p.Gly59=)
c.85-61A>C (n.85-61A>C)
5g.93585200A>GCA445722080NR2F1c.102A>G (p.Gly34=)
c.177A>G (p.Gly59=)
c.85-61A>G (n.85-61A>G)
dbSNP gnomAD v3 gnomAD v4
5g.93585200A>TCA445722081NR2F1c.102A>T (p.Gly34=)
c.177A>T (p.Gly59=)
c.85-61A>T (n.85-61A>T)
5g.93585201G>ACA360525692NR2F1c.103G>A (p.Ala35Thr)
c.178G>A (p.Ala60Thr)
c.85-60G>A (n.85-60G>A)
5g.93585201G>CCA360525693NR2F1c.103G>C (p.Ala35Pro)
c.178G>C (p.Ala60Pro)
c.85-60G>C (n.85-60G>C)
5g.93585201G>TCA360525694NR2F1c.103G>T (p.Ala35Ser)
c.178G>T (p.Ala60Ser)
c.85-60G>T (n.85-60G>T)
5g.93585202C>ACA360525696NR2F1c.104C>A (p.Ala35Glu)
c.179C>A (p.Ala60Glu)
c.85-59C>A (n.85-59C>A)
5g.93585202C=CA1564182772NR2F1c.104C= (p.Ala35=)
c.179C= (p.Ala60=)
c.85-59C= (n.85-59C=)
5g.93585202C>GCA360525697NR2F1c.104C>G (p.Ala35Gly)
c.179C>G (p.Ala60Gly)
c.85-59C>G (n.85-59C>G)
5g.93585202C>TCA360525695NR2F1c.104C>T (p.Ala35Val)
c.179C>T (p.Ala60Val)
c.85-59C>T (n.85-59C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.93585203G>ACA445722083NR2F1c.105G>A (p.Ala35=)
c.180G>A (p.Ala60=)
c.85-58G>A (n.85-58G>A)
dbSNP gnomAD v4
5g.93585203G>CCA445722084NR2F1c.105G>C (p.Ala35=)
c.180G>C (p.Ala60=)
c.85-58G>C (n.85-58G>C)
5g.93585203G=CA1564182773NR2F1c.105G= (p.Ala35=)
c.180G= (p.Ala60=)
c.85-58G= (n.85-58G=)
5g.93585203G>TCA445722085NR2F1c.105G>T (p.Ala35=)
c.180G>T (p.Ala60=)
c.85-58G>T (n.85-58G>T)
dbSNP gnomAD v4
5g.93585204C>ACA360525699NR2F1c.106C>A (p.Pro36Thr)
c.181C>A (p.Pro61Thr)
c.85-57C>A (n.85-57C>A)
5g.93585204C>GCA360525698NR2F1c.106C>G (p.Pro36Ala)
c.181C>G (p.Pro61Ala)
c.85-57C>G (n.85-57C>G)
5g.93585204C>TCA360525700NR2F1c.106C>T (p.Pro36Ser)
c.181C>T (p.Pro61Ser)
c.85-57C>T (n.85-57C>T)
5g.93585208_93585216delCA2767488838NR2F1c.110_118del (p.Ala37_Pro39del)
c.185_193del (p.Ala62_Pro64del)
c.85-53_85-45del (n.85-53_85-45del)
5g.93585205C>ACA360525701NR2F1c.107C>A (p.Pro36His)
c.182C>A (p.Pro61His)
c.85-56C>A (n.85-56C>A)
5g.93585205C>GCA360525703NR2F1c.107C>G (p.Pro36Arg)
c.182C>G (p.Pro61Arg)
c.85-56C>G (n.85-56C>G)
5g.93585205C>TCA360525702NR2F1c.107C>T (p.Pro36Leu)
c.182C>T (p.Pro61Leu)
c.85-56C>T (n.85-56C>T)
5g.93585206C>ACA445722087NR2F1c.108C>A (p.Pro36=)
c.183C>A (p.Pro61=)
c.85-55C>A (n.85-55C>A)
gnomAD v4
5g.93585206C=CA1564182774NR2F1c.108C= (p.Pro36=)
c.183C= (p.Pro61=)
c.85-55C= (n.85-55C=)
5g.93585206C>GCA445722086NR2F1c.108C>G (p.Pro36=)
c.183C>G (p.Pro61=)
c.85-55C>G (n.85-55C>G)
5g.93585206C>TCA16042631NR2F1c.108C>T (p.Pro36=)
c.183C>T (p.Pro61=)
c.85-55C>T (n.85-55C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.93585207G>ACA360525706NR2F1c.109G>A (p.Ala37Thr)
c.184G>A (p.Ala62Thr)
c.85-54G>A (n.85-54G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.93585207G>CCA360525704NR2F1c.109G>C (p.Ala37Pro)
c.184G>C (p.Ala62Pro)
c.85-54G>C (n.85-54G>C)
ClinVar
5g.93585207G=CA1564182775NR2F1c.109G= (p.Ala37=)
c.184G= (p.Ala62=)
c.85-54G= (n.85-54G=)
5g.93585207G>TCA360525705NR2F1c.109G>T (p.Ala37Ser)
c.184G>T (p.Ala62Ser)
c.85-54G>T (n.85-54G>T)
gnomAD v4
5g.93585208C>ACA360525707NR2F1c.110C>A (p.Ala37Asp)
c.185C>A (p.Ala62Asp)
c.85-53C>A (n.85-53C>A)
5g.93585208C>GCA360525708NR2F1c.110C>G (p.Ala37Gly)
c.185C>G (p.Ala62Gly)
c.85-53C>G (n.85-53C>G)
5g.93585208C>TCA360525709NR2F1c.110C>T (p.Ala37Val)
c.185C>T (p.Ala62Val)
c.85-53C>T (n.85-53C>T)
dbSNP
5g.93585209C>ACA445722088NR2F1c.111C>A (p.Ala37=)
c.186C>A (p.Ala62=)
c.85-52C>A (n.85-52C>A)
dbSNP gnomAD v4
5g.93585209C=CA1564182776NR2F1c.111C= (p.Ala37=)
c.186C= (p.Ala62=)
c.85-52C= (n.85-52C=)
5g.93585209C>GCA445722089NR2F1c.111C>G (p.Ala37=)
c.186C>G (p.Ala62=)
c.85-52C>G (n.85-52C>G)
5g.93585209C>TCA445722090NR2F1c.111C>T (p.Ala37=)
c.186C>T (p.Ala62=)
c.85-52C>T (n.85-52C>T)
gnomAD v4
5g.93585210A=CA1564182777NR2F1c.112A= (p.Thr38=)
c.187A= (p.Thr63=)
c.85-51A= (n.85-51A=)
5g.93585210A>CCA360525710NR2F1c.112A>C (p.Thr38Pro)
c.187A>C (p.Thr63Pro)
c.85-51A>C (n.85-51A>C)
5g.93585210A>GCA360525711NR2F1c.112A>G (p.Thr38Ala)
c.187A>G (p.Thr63Ala)
c.85-51A>G (n.85-51A>G)
5g.93585210A>TCA360525712NR2F1c.112A>T (p.Thr38Ser)
c.187A>T (p.Thr63Ser)
c.85-51A>T (n.85-51A>T)
5g.93585211C>ACA360525716NR2F1c.113C>A (p.Thr38Asn)
c.188C>A (p.Thr63Asn)
c.85-50C>A (n.85-50C>A)
dbSNP gnomAD v4
5g.93585211C=CA1564182778NR2F1c.113C= (p.Thr38=)
c.188C= (p.Thr63=)
c.85-50C= (n.85-50C=)
5g.93585211C>GCA360525715NR2F1c.113C>G (p.Thr38Ser)
c.188C>G (p.Thr63Ser)
c.85-50C>G (n.85-50C>G)
gnomAD v4
5g.93585211C>TCA360525714NR2F1c.113C>T (p.Thr38Ile)
c.188C>T (p.Thr63Ile)
c.85-50C>T (n.85-50C>T)
dbSNP gnomAD v4
5g.93585215dupCA360525713NR2F1c.117dup (p.Gly40ArgfsTer?)
c.192dup (p.Gly65ArgfsTer?)
c.85-46dup (n.85-46dup)
dbSNP
5g.93585215delCA2674596621NR2F1c.117del (p.Gly40AlafsTer?)
c.192del (p.Gly65AlafsTer?)
c.85-46del (n.85-46del)
gnomAD v4
5g.93585212C>ACA445722091NR2F1c.114C>A (p.Thr38=)
c.189C>A (p.Thr63=)
c.85-49C>A (n.85-49C>A)
5g.93585212C=CA1564182779NR2F1c.114C= (p.Thr38=)
c.189C= (p.Thr63=)
c.85-49C= (n.85-49C=)
5g.93585212C>GCA445722092NR2F1c.114C>G (p.Thr38=)
c.189C>G (p.Thr63=)
c.85-49C>G (n.85-49C>G)
5g.93585212C>TCA445722093NR2F1c.114C>T (p.Thr38=)
c.189C>T (p.Thr63=)
c.85-49C>T (n.85-49C>T)
ClinVar dbSNP
5g.93585213_93585223delCA2674596625NR2F1c.115_125del (p.Pro39GlyfsTer?)
c.190_200del (p.Pro64GlyfsTer?)
c.85-48_85-38del (n.85-48_85-38del)
gnomAD v4
5g.93585213C>ACA360525717NR2F1c.115C>A (p.Pro39Thr)
c.190C>A (p.Pro64Thr)
c.85-48C>A (n.85-48C>A)
5g.93585213C>GCA360525718NR2F1c.115C>G (p.Pro39Ala)
c.190C>G (p.Pro64Ala)
c.85-48C>G (n.85-48C>G)
gnomAD v4
5g.93585213C>TCA360525719NR2F1c.115C>T (p.Pro39Ser)
c.190C>T (p.Pro64Ser)
c.85-48C>T (n.85-48C>T)
5g.93585214C>ACA360525721NR2F1c.116C>A (p.Pro39His)
c.191C>A (p.Pro64His)
c.85-47C>A (n.85-47C>A)
5g.93585214C=CA1564182780NR2F1c.116C= (p.Pro39=)
c.191C= (p.Pro64=)
c.85-47C= (n.85-47C=)
5g.93585214C>GCA360525720NR2F1c.116C>G (p.Pro39Arg)
c.191C>G (p.Pro64Arg)
c.85-47C>G (n.85-47C>G)
5g.93585214C>TCA3343109NR2F1c.116C>T (p.Pro39Leu)
c.191C>T (p.Pro64Leu)
c.85-47C>T (n.85-47C>T)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
5g.93585215C>ACA445722094NR2F1c.117C>A (p.Pro39=)
c.192C>A (p.Pro64=)
c.85-46C>A (n.85-46C>A)
5g.93585215C=CA1564182781NR2F1c.117C= (p.Pro39=)
c.192C= (p.Pro64=)
c.85-46C= (n.85-46C=)
5g.93585215C>GCA445722095NR2F1c.117C>G (p.Pro39=)
c.192C>G (p.Pro64=)
c.85-46C>G (n.85-46C>G)
5g.93585215C>TCA3343110NR2F1c.117C>T (p.Pro39=)
c.192C>T (p.Pro64=)
c.85-46C>T (n.85-46C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.93585216G>ACA123266249NR2F1c.118G>A (p.Gly40Ser)
c.193G>A (p.Gly65Ser)
c.85-45G>A (n.85-45G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.93585216G>CCA123266250NR2F1c.118G>C (p.Gly40Arg)
c.193G>C (p.Gly65Arg)
c.85-45G>C (n.85-45G>C)
dbSNP
5g.93585216G=CA1564182782NR2F1c.118G= (p.Gly40=)
c.193G= (p.Gly65=)
c.85-45G= (n.85-45G=)
5g.93585216G>TCA360525722NR2F1c.118G>T (p.Gly40Cys)
c.193G>T (p.Gly65Cys)
c.85-45G>T (n.85-45G>T)
dbSNP gnomAD v2
5g.93585217G>ACA360525723NR2F1c.119G>A (p.Gly40Asp)
c.194G>A (p.Gly65Asp)
c.85-44G>A (n.85-44G>A)
5g.93585217G>CCA360525724NR2F1c.119G>C (p.Gly40Ala)
c.194G>C (p.Gly65Ala)
c.85-44G>C (n.85-44G>C)
5g.93585217G>TCA360525725NR2F1c.119G>T (p.Gly40Val)
c.194G>T (p.Gly65Val)
c.85-44G>T (n.85-44G>T)
5g.93585218C>ACA445722096NR2F1c.120C>A (p.Gly40=)
c.195C>A (p.Gly65=)
c.85-43C>A (n.85-43C>A)
5g.93585218C>GCA445722097NR2F1c.120C>G (p.Gly40=)
c.195C>G (p.Gly65=)
c.85-43C>G (n.85-43C>G)
5g.93585218C>TCA445722098NR2F1c.120C>T (p.Gly40=)
c.195C>T (p.Gly65=)
c.85-43C>T (n.85-43C>T)
5g.93585219A>CCA360525726NR2F1c.121A>C (p.Thr41Pro)
c.196A>C (p.Thr66Pro)
c.85-42A>C (n.85-42A>C)
5g.93585219A>GCA360525727NR2F1c.121A>G (p.Thr41Ala)
c.196A>G (p.Thr66Ala)
c.85-42A>G (n.85-42A>G)
5g.93585219A>TCA360525728NR2F1c.121A>T (p.Thr41Ser)
c.196A>T (p.Thr66Ser)
c.85-42A>T (n.85-42A>T)
5g.93585220C>ACA360525729NR2F1c.122C>A (p.Thr41Lys)
c.197C>A (p.Thr66Lys)
c.85-41C>A (n.85-41C>A)
5g.93585220C>GCA360525730NR2F1c.122C>G (p.Thr41Arg)
c.197C>G (p.Thr66Arg)
c.85-41C>G (n.85-41C>G)
gnomAD v4
5g.93585220C>TCA360525731NR2F1c.122C>T (p.Thr41Met)
c.197C>T (p.Thr66Met)
c.85-41C>T (n.85-41C>T)
ClinVar dbSNP gnomAD v4
5g.93585221G>ACA445722099NR2F1c.123G>A (p.Thr41=)
c.198G>A (p.Thr66=)
c.85-40G>A (n.85-40G>A)
gnomAD v4
5g.93585221G>CCA445722100NR2F1c.123G>C (p.Thr41=)
c.198G>C (p.Thr66=)
c.85-40G>C (n.85-40G>C)
5g.93585221G>TCA445722101NR2F1c.123G>T (p.Thr41=)
c.198G>T (p.Thr66=)
c.85-40G>T (n.85-40G>T)
5g.93585222G>ACA360525732NR2F1c.124G>A (p.Ala42Thr)
c.199G>A (p.Ala67Thr)
c.85-39G>A (n.85-39G>A)
5g.93585222G>CCA360525734NR2F1c.124G>C (p.Ala42Pro)
c.199G>C (p.Ala67Pro)
c.85-39G>C (n.85-39G>C)
5g.93585222G>TCA360525733NR2F1c.124G>T (p.Ala42Ser)
c.199G>T (p.Ala67Ser)
c.85-39G>T (n.85-39G>T)
gnomAD v4
5g.93585223C>ACA360525735NR2F1c.125C>A (p.Ala42Glu)
c.200C>A (p.Ala67Glu)
c.85-38C>A (n.85-38C>A)
5g.93585223C>GCA360525736NR2F1c.125C>G (p.Ala42Gly)
c.200C>G (p.Ala67Gly)
c.85-38C>G (n.85-38C>G)
5g.93585223C>TCA360525737NR2F1c.125C>T (p.Ala42Val)
c.200C>T (p.Ala67Val)
c.85-38C>T (n.85-38C>T)
gnomAD v4
5g.93585224G>ACA445722102NR2F1c.126G>A (p.Ala42=)
c.201G>A (p.Ala67=)
c.85-37G>A (n.85-37G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.93585224G>CCA445722103NR2F1c.126G>C (p.Ala42=)
c.201G>C (p.Ala67=)
c.85-37G>C (n.85-37G>C)
5g.93585224G=CA1564182783NR2F1c.126G= (p.Ala42=)
c.201G= (p.Ala67=)
c.85-37G= (n.85-37G=)
5g.93585224G>TCA445722104NR2F1c.126G>T (p.Ala42=)
c.201G>T (p.Ala67=)
c.85-37G>T (n.85-37G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.93585228dupCA2578360807NR2F1c.130dup (p.Asp44GlyfsTer?)
c.205dup (p.Asp69GlyfsTer?)
c.85-33dup (n.85-33dup)
5g.93585225G>ACA360525738NR2F1c.127G>A (p.Gly43Arg)
c.202G>A (p.Gly68Arg)
c.85-36G>A (n.85-36G>A)
5g.93585225G>CCA360525739NR2F1c.127G>C (p.Gly43Arg)
c.202G>C (p.Gly68Arg)
c.85-36G>C (n.85-36G>C)
5g.93585225G>TCA360525740NR2F1c.127G>T (p.Gly43Trp)
c.202G>T (p.Gly68Trp)
c.85-36G>T (n.85-36G>T)
5g.93585226G>ACA360525741NR2F1c.128G>A (p.Gly43Glu)
c.203G>A (p.Gly68Glu)
c.85-35G>A (n.85-35G>A)
gnomAD v4
5g.93585226G>CCA360525742NR2F1c.128G>C (p.Gly43Ala)
c.203G>C (p.Gly68Ala)
c.85-35G>C (n.85-35G>C)
5g.93585226G>TCA360525743NR2F1c.128G>T (p.Gly43Val)
c.203G>T (p.Gly68Val)
c.85-35G>T (n.85-35G>T)
5g.93585227G>ACA445722106NR2F1c.129G>A (p.Gly43=)
c.204G>A (p.Gly68=)
c.85-34G>A (n.85-34G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.93585227G>CCA445722105NR2F1c.129G>C (p.Gly43=)
c.204G>C (p.Gly68=)
c.85-34G>C (n.85-34G>C)
5g.93585227G=CA1564182784NR2F1c.129G= (p.Gly43=)
c.204G= (p.Gly68=)
c.85-34G= (n.85-34G=)
5g.93585227G>TCA445722107NR2F1c.129G>T (p.Gly43=)
c.204G>T (p.Gly68=)
c.85-34G>T (n.85-34G>T)
5g.93585228G>ACA360525744NR2F1c.130G>A (p.Asp44Asn)
c.205G>A (p.Asp69Asn)
c.85-33G>A (n.85-33G>A)
dbSNP gnomAD v2
5g.93585228G>CCA360525745NR2F1c.130G>C (p.Asp44His)
c.205G>C (p.Asp69His)
c.85-33G>C (n.85-33G>C)
gnomAD v4
5g.93585228G=CA1564182785NR2F1c.130G= (p.Asp44=)
c.205G= (p.Asp69=)
c.85-33G= (n.85-33G=)
5g.93585228G>TCA360525746NR2F1c.130G>T (p.Asp44Tyr)
c.205G>T (p.Asp69Tyr)
c.85-33G>T (n.85-33G>T)
5g.93585229A=CA1564182786NR2F1c.131A= (p.Asp44=)
c.206A= (p.Asp69=)
c.85-32A= (n.85-32A=)
5g.93585229A>CCA360525748NR2F1c.131A>C (p.Asp44Ala)
c.206A>C (p.Asp69Ala)
c.85-32A>C (n.85-32A>C)
5g.93585229A>GCA360525749NR2F1c.131A>G (p.Asp44Gly)
c.206A>G (p.Asp69Gly)
c.85-32A>G (n.85-32A>G)
dbSNP gnomAD v4 COSMIC
5g.93585229A>TCA360525747NR2F1c.131A>T (p.Asp44Val)
c.206A>T (p.Asp69Val)
c.85-32A>T (n.85-32A>T)
5g.93585230C>ACA360525750NR2F1c.132C>A (p.Asp44Glu)
c.207C>A (p.Asp69Glu)
c.85-31C>A (n.85-31C>A)
5g.93585230C>GCA360525751NR2F1c.132C>G (p.Asp44Glu)
c.207C>G (p.Asp69Glu)
c.85-31C>G (n.85-31C>G)
gnomAD v4
5g.93585230C>TCA445722108NR2F1c.132C>T (p.Asp44=)
c.207C>T (p.Asp69=)
c.85-31C>T (n.85-31C>T)
5g.93585231A=CA1564182787NR2F1c.133A= (p.Lys45=)
c.208A= (p.Lys70=)
c.85-30A= (n.85-30A=)
5g.93585231A>CCA360525752NR2F1c.133A>C (p.Lys45Gln)
c.208A>C (p.Lys70Gln)
c.85-30A>C (n.85-30A>C)
5g.93585231A>GCA360525753NR2F1c.133A>G (p.Lys45Glu)
c.208A>G (p.Lys70Glu)
c.85-30A>G (n.85-30A>G)
gnomAD v4
5g.93585231A>TCA360525754NR2F1c.133A>T (p.Lys45Ter)
c.208A>T (p.Lys70Ter)
c.85-30A>T (n.85-30A>T)
5g.93585231_93585234delCA2573052548NR2F1c.133_136del (p.Lys45AlafsTer?)
c.208_211del (p.Lys70AlafsTer?)
c.85-30_85-27del (n.85-30_85-27del)
ClinVar dbSNP
5g.93585232A>CCA360525757NR2F1c.134A>C (p.Lys45Thr)
c.209A>C (p.Lys70Thr)
c.85-29A>C (n.85-29A>C)
5g.93585232A>GCA360525755NR2F1c.134A>G (p.Lys45Arg)
c.209A>G (p.Lys70Arg)
c.85-29A>G (n.85-29A>G)
gnomAD v4
5g.93585232A>TCA360525756NR2F1c.134A>T (p.Lys45Met)
c.209A>T (p.Lys70Met)
c.85-29A>T (n.85-29A>T)
5g.93585238_93585243dupCA561258798NR2F1c.140_145dup (p.Gly48_Pro49insGlnGly)
c.215_220dup (p.Gly73_Pro74insGlnGly)
c.85-23_85-18dup (n.85-23_85-18dup)
dbSNP gnomAD v2 gnomAD v4
5g.93585233G>ACA445722109NR2F1c.135G>A (p.Lys45=)
c.210G>A (p.Lys70=)
c.85-28G>A (n.85-28G>A)
gnomAD v4
5g.93585233G>CCA360525758NR2F1c.135G>C (p.Lys45Asn)
c.210G>C (p.Lys70Asn)
c.85-28G>C (n.85-28G>C)
ClinVar
5g.93585233G>TCA360525759NR2F1c.135G>T (p.Lys45Asn)
c.210G>T (p.Lys70Asn)
c.85-28G>T (n.85-28G>T)
5g.93585240_93585260delCA2674596664NR2F1c.142_162del (p.Gly48_Gln54del)
c.217_237del (p.Gly73_Gln79del)
c.85-21_85-1del (n.85-21_85-1del)
gnomAD v4
5g.93585234G>ACA360525760NR2F1c.136G>A (p.Gly46Ser)
c.211G>A (p.Gly71Ser)
c.85-27G>A (n.85-27G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.93585234G>CCA360525761NR2F1c.136G>C (p.Gly46Arg)
c.211G>C (p.Gly71Arg)
c.85-27G>C (n.85-27G>C)
5g.93585234G=CA1564182788NR2F1c.136G= (p.Gly46=)
c.211G= (p.Gly71=)
c.85-27G= (n.85-27G=)
5g.93585234G>TCA360525762NR2F1c.136G>T (p.Gly46Cys)
c.211G>T (p.Gly71Cys)
c.85-27G>T (n.85-27G>T)
5g.93585235G>ACA360525765NR2F1c.137G>A (p.Gly46Asp)
c.212G>A (p.Gly71Asp)
c.85-26G>A (n.85-26G>A)
5g.93585235G>CCA360525763NR2F1c.137G>C (p.Gly46Ala)
c.212G>C (p.Gly71Ala)
c.85-26G>C (n.85-26G>C)
5g.93585235G>TCA360525764NR2F1c.137G>T (p.Gly46Val)
c.212G>T (p.Gly71Val)
c.85-26G>T (n.85-26G>T)
5g.93585236C>ACA445722110NR2F1c.138C>A (p.Gly46=)
c.213C>A (p.Gly71=)
c.85-25C>A (n.85-25C>A)
gnomAD v4
5g.93585236C=CA1564182789NR2F1c.138C= (p.Gly46=)
c.213C= (p.Gly71=)
c.85-25C= (n.85-25C=)
5g.93585236C>GCA445722111NR2F1c.138C>G (p.Gly46=)
c.213C>G (p.Gly71=)
c.85-25C>G (n.85-25C>G)
5g.93585236C>TCA445722112NR2F1c.138C>T (p.Gly46=)
c.213C>T (p.Gly71=)
c.85-25C>T (n.85-25C>T)
dbSNP
5g.93585237C>ACA360525766NR2F1c.139C>A (p.Gln47Lys)
c.214C>A (p.Gln72Lys)
c.85-24C>A (n.85-24C>A)
gnomAD v4
5g.93585237C>GCA360525768NR2F1c.139C>G (p.Gln47Glu)
c.214C>G (p.Gln72Glu)
c.85-24C>G (n.85-24C>G)
5g.93585237C>TCA360525767NR2F1c.139C>T (p.Gln47Ter)
c.214C>T (p.Gln72Ter)
c.85-24C>T (n.85-24C>T)
5g.93585238A>CCA360525769NR2F1c.140A>C (p.Gln47Pro)
c.215A>C (p.Gln72Pro)
c.85-23A>C (n.85-23A>C)
5g.93585238A>GCA360525770NR2F1c.140A>G (p.Gln47Arg)
c.215A>G (p.Gln72Arg)
c.85-23A>G (n.85-23A>G)
gnomAD v4
5g.93585238A>TCA360525771NR2F1c.140A>T (p.Gln47Leu)
c.215A>T (p.Gln72Leu)
c.85-23A>T (n.85-23A>T)
5g.93585239G>ACA445722113NR2F1c.141G>A (p.Gln47=)
c.216G>A (p.Gln72=)
c.85-22G>A (n.85-22G>A)
5g.93585239G>CCA360525772NR2F1c.141G>C (p.Gln47His)
c.216G>C (p.Gln72His)
c.85-22G>C (n.85-22G>C)
5g.93585239G>TCA360525773NR2F1c.141G>T (p.Gln47His)
c.216G>T (p.Gln72His)
c.85-22G>T (n.85-22G>T)
gnomAD v4
5g.93585240G>ACA360525774NR2F1c.142G>A (p.Gly48Ser)
c.217G>A (p.Gly73Ser)
c.85-21G>A (n.85-21G>A)
5g.93585240G>CCA360525775NR2F1c.142G>C (p.Gly48Arg)
c.217G>C (p.Gly73Arg)
c.85-21G>C (n.85-21G>C)
5g.93585240G>TCA360525776NR2F1c.142G>T (p.Gly48Cys)
c.217G>T (p.Gly73Cys)
c.85-21G>T (n.85-21G>T)
5g.93585241G>ACA360525777NR2F1c.143G>A (p.Gly48Asp)
c.218G>A (p.Gly73Asp)
c.85-20G>A (n.85-20G>A)
ClinVar dbSNP
5g.93585241G>CCA360525778NR2F1c.143G>C (p.Gly48Ala)
c.218G>C (p.Gly73Ala)
c.85-20G>C (n.85-20G>C)
5g.93585241G>TCA360525779NR2F1c.143G>T (p.Gly48Val)
c.218G>T (p.Gly73Val)
c.85-20G>T (n.85-20G>T)
gnomAD v4
5g.93585242C>ACA445722114NR2F1c.144C>A (p.Gly48=)
c.219C>A (p.Gly73=)
c.85-19C>A (n.85-19C>A)
5g.93585242C=CA1564182790NR2F1c.144C= (p.Gly48=)
c.219C= (p.Gly73=)
c.85-19C= (n.85-19C=)
5g.93585242C>GCA445722115NR2F1c.144C>G (p.Gly48=)
c.219C>G (p.Gly73=)
c.85-19C>G (n.85-19C>G)
5g.93585242C>TCA445722116NR2F1c.144C>T (p.Gly48=)
c.219C>T (p.Gly73=)
c.85-19C>T (n.85-19C>T)
dbSNP gnomAD v2
5g.93585243C>ACA360525782NR2F1c.145C>A (p.Pro49Thr)
c.220C>A (p.Pro74Thr)
c.85-18C>A (n.85-18C>A)
5g.93585243C>GCA360525781NR2F1c.145C>G (p.Pro49Ala)
c.220C>G (p.Pro74Ala)
c.85-18C>G (n.85-18C>G)
5g.93585243C>TCA360525780NR2F1c.145C>T (p.Pro49Ser)
c.220C>T (p.Pro74Ser)
c.85-18C>T (n.85-18C>T)
ClinVar gnomAD v4
5g.93585244C>ACA360525783NR2F1c.146C>A (p.Pro49Gln)
c.221C>A (p.Pro74Gln)
c.85-17C>A (n.85-17C>A)
gnomAD v4
5g.93585244C=CA1564182791NR2F1c.146C= (p.Pro49=)
c.221C= (p.Pro74=)
c.85-17C= (n.85-17C=)
5g.93585244C>GCA360525784NR2F1c.146C>G (p.Pro49Arg)
c.221C>G (p.Pro74Arg)
c.85-17C>G (n.85-17C>G)
5g.93585244C>TCA3343111NR2F1c.146C>T (p.Pro49Leu)
c.221C>T (p.Pro74Leu)
c.85-17C>T (n.85-17C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.93585245G>ACA445722117NR2F1c.147G>A (p.Pro49=)
c.222G>A (p.Pro74=)
c.85-16G>A (n.85-16G>A)
5g.93585245G>CCA445722118NR2F1c.147G>C (p.Pro49=)
c.222G>C (p.Pro74=)
c.85-16G>C (n.85-16G>C)
5g.93585245G>TCA445722119NR2F1c.147G>T (p.Pro49=)
c.222G>T (p.Pro74=)
c.85-16G>T (n.85-16G>T)
gnomAD v4
5g.93585246C>ACA360525785NR2F1c.148C>A (p.Pro50Thr)
c.223C>A (p.Pro75Thr)
c.85-15C>A (n.85-15C>A)
gnomAD v4
5g.93585246C=CA1564182792NR2F1c.148C= (p.Pro50=)
c.223C= (p.Pro75=)
c.85-15C= (n.85-15C=)
5g.93585246C>GCA360525786NR2F1c.148C>G (p.Pro50Ala)
c.223C>G (p.Pro75Ala)
c.85-15C>G (n.85-15C>G)
5g.93585246C>TCA360525787NR2F1c.148C>T (p.Pro50Ser)
c.223C>T (p.Pro75Ser)
c.85-15C>T (n.85-15C>T)
dbSNP
5g.93585247C>ACA360525788NR2F1c.149C>A (p.Pro50His)
c.224C>A (p.Pro75His)
c.85-14C>A (n.85-14C>A)
COSMIC
5g.93585247C>GCA360525789NR2F1c.149C>G (p.Pro50Arg)
c.224C>G (p.Pro75Arg)
c.85-14C>G (n.85-14C>G)
5g.93585247C>TCA360525790NR2F1c.149C>T (p.Pro50Leu)
c.224C>T (p.Pro75Leu)
c.85-14C>T (n.85-14C>T)
5g.93585248C>ACA445722121NR2F1c.150C>A (p.Pro50=)
c.225C>A (p.Pro75=)
c.85-13C>A (n.85-13C>A)
gnomAD v4
5g.93585248C>GCA445722122NR2F1c.150C>G (p.Pro50=)
c.225C>G (p.Pro75=)
c.85-13C>G (n.85-13C>G)
5g.93585248C>TCA445722120NR2F1c.150C>T (p.Pro50=)
c.225C>T (p.Pro75=)
c.85-13C>T (n.85-13C>T)
gnomAD v4
5g.93585249G>ACA16604948NR2F1c.151G>A (p.Gly51Ser)
c.226G>A (p.Gly76Ser)
c.85-12G>A (n.85-12G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.93585249G>CCA3343112NR2F1c.151G>C (p.Gly51Arg)
c.226G>C (p.Gly76Arg)
c.85-12G>C (n.85-12G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.93585249G=CA1564182793NR2F1c.151G= (p.Gly51=)
c.226G= (p.Gly76=)
c.85-12G= (n.85-12G=)
5g.93585249G>TCA360525791NR2F1c.151G>T (p.Gly51Cys)
c.226G>T (p.Gly76Cys)
c.85-12G>T (n.85-12G>T)
gnomAD v4
5g.93585250G>ACA360525794NR2F1c.152G>A (p.Gly51Asp)
c.227G>A (p.Gly76Asp)
c.85-11G>A (n.85-11G>A)
5g.93585250G>CCA360525793NR2F1c.152G>C (p.Gly51Ala)
c.227G>C (p.Gly76Ala)
c.85-11G>C (n.85-11G>C)
5g.93585250G>TCA360525792NR2F1c.152G>T (p.Gly51Val)
c.227G>T (p.Gly76Val)
c.85-11G>T (n.85-11G>T)
5g.93585251T>ACA445722125NR2F1c.153T>A (p.Gly51=)
c.228T>A (p.Gly76=)
c.85-10T>A (n.85-10T>A)
5g.93585251T>CCA445722124NR2F1c.153T>C (p.Gly51=)
c.228T>C (p.Gly76=)
c.85-10T>C (n.85-10T>C)
5g.93585251T>GCA445722123NR2F1c.153T>G (p.Gly51=)
c.228T>G (p.Gly76=)
c.85-10T>G (n.85-10T>G)
5g.93585252T>ACA360525797NR2F1c.154T>A (p.Ser52Thr)
c.229T>A (p.Ser77Thr)
c.85-9T>A (n.85-9T>A)
5g.93585252T>CCA360525795NR2F1c.154T>C (p.Ser52Pro)
c.229T>C (p.Ser77Pro)
c.85-9T>C (n.85-9T>C)
5g.93585252T>GCA360525796NR2F1c.154T>G (p.Ser52Ala)
c.229T>G (p.Ser77Ala)
c.85-9T>G (n.85-9T>G)
5g.93585253C>ACA360525798NR2F1c.155C>A (p.Ser52Ter)
c.230C>A (p.Ser77Ter)
c.85-8C>A (n.85-8C>A)
gnomAD v4
5g.93585253C>GCA360525799NR2F1c.155C>G (p.Ser52Trp)
c.230C>G (p.Ser77Trp)
c.85-8C>G (n.85-8C>G)
5g.93585253C>TCA360525800NR2F1c.155C>T (p.Ser52Leu)
c.230C>T (p.Ser77Leu)
c.85-8C>T (n.85-8C>T)
gnomAD v4
5g.93585254G>ACA445722126NR2F1c.156G>A (p.Ser52=)
c.231G>A (p.Ser77=)
c.85-7G>A (n.85-7G>A)
dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.93585254G>CCA445722128NR2F1c.156G>C (p.Ser52=)
c.231G>C (p.Ser77=)
c.85-7G>C (n.85-7G>C)
ClinVar dbSNP
5g.93585254G=CA1564182794NR2F1c.156G= (p.Ser52=)
c.231G= (p.Ser77=)
c.85-7G= (n.85-7G=)
5g.93585254G>TCA445722127NR2F1c.156G>T (p.Ser52=)
c.231G>T (p.Ser77=)
c.85-7G>T (n.85-7G>T)
gnomAD v4
5g.93585255G>ACA360525803NR2F1c.157G>A (p.Gly53Ser)
c.232G>A (p.Gly78Ser)
c.85-6G>A (n.85-6G>A)
dbSNP gnomAD v2 gnomAD v4
5g.93585255G>CCA360525802NR2F1c.157G>C (p.Gly53Arg)
c.232G>C (p.Gly78Arg)
c.85-6G>C (n.85-6G>C)
5g.93585255G=CA1564182795NR2F1c.157G= (p.Gly53=)
c.232G= (p.Gly78=)
c.85-6G= (n.85-6G=)
5g.93585255G>TCA360525801NR2F1c.157G>T (p.Gly53Cys)
c.232G>T (p.Gly78Cys)
c.85-6G>T (n.85-6G>T)
gnomAD v4
5g.93585256G>ACA360525804NR2F1c.158G>A (p.Gly53Asp)
c.233G>A (p.Gly78Asp)
c.85-5G>A (n.85-5G>A)
dbSNP gnomAD v2 gnomAD v4
5g.93585256G>CCA360525805NR2F1c.158G>C (p.Gly53Ala)
c.233G>C (p.Gly78Ala)
c.85-5G>C (n.85-5G>C)
ClinVar
5g.93585256G=CA1564182796NR2F1c.158G= (p.Gly53=)
c.233G= (p.Gly78=)
c.85-5G= (n.85-5G=)
5g.93585256G>TCA360525806NR2F1c.158G>T (p.Gly53Val)
c.233G>T (p.Gly78Val)
c.85-5G>T (n.85-5G>T)
5g.93585257C>ACA445722129NR2F1c.159C>A (p.Gly53=)
c.234C>A (p.Gly78=)
c.85-4C>A (n.85-4C>A)
5g.93585257C>GCA445722130NR2F1c.159C>G (p.Gly53=)
c.234C>G (p.Gly78=)
c.85-4C>G (n.85-4C>G)
5g.93585257C>TCA445722131NR2F1c.159C>T (p.Gly53=)
c.234C>T (p.Gly78=)
c.85-4C>T (n.85-4C>T)
5g.93585258C>ACA360525807NR2F1c.160C>A (p.Gln54Lys)
c.235C>A (p.Gln79Lys)
c.85-3C>A (n.85-3C>A)
gnomAD v4
5g.93585258C>GCA360525808NR2F1c.160C>G (p.Gln54Glu)
c.235C>G (p.Gln79Glu)
c.85-3C>G (n.85-3C>G)
5g.93585258C>TCA360525809NR2F1c.160C>T (p.Gln54Ter)
c.235C>T (p.Gln79Ter)
c.85-3C>T (n.85-3C>T)
5g.93585259A>CCA360525810NR2F1c.161A>C (p.Gln54Pro)
c.236A>C (p.Gln79Pro)
c.85-2A>C (n.85-2A>C)
5g.93585259A>GCA360525812NR2F1c.161A>G (p.Gln54Arg)
c.236A>G (p.Gln79Arg)
c.85-2A>G (n.85-2A>G)
gnomAD v4
5g.93585259A>TCA360525811NR2F1c.161A>T (p.Gln54Leu)
c.236A>T (p.Gln79Leu)
c.85-2A>T (n.85-2A>T)
5g.93585260G>ACA3343114NR2F1c.162G>A (p.Gln54=)
c.237G>A (p.Gln79=)
c.85-1G>A (n.85-1G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.93585260G>CCA3343113NR2F1c.162G>C (p.Gln54His)
c.237G>C (p.Gln79His)
c.85-1G>C (n.85-1G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.93585260G=CA1564182797NR2F1c.162G= (p.Gln54=)
c.237G= (p.Gln79=)
c.85-1G= (n.85-1G=)
5g.93585260G>TCA360525813NR2F1c.162G>T (p.Gln54His)
c.237G>T (p.Gln79His)
c.85-1G>T (n.85-1G>T)
5g.93585263_93585278delCA2697546266NR2F1c.165_180del (p.Gln56AlafsTer?)
c.240_255del (p.Gln81AlafsTer?)
c.87_102del
ClinVar
5g.93585261A>CCA360525814NR2F1c.163A>C (p.Ser55Arg)
c.238A>C (p.Ser80Arg)
c.85A>C (p.Ser29Arg)
5g.93585261A>GCA360525815NR2F1c.163A>G (p.Ser55Gly)
c.238A>G (p.Ser80Gly)
c.85A>G (p.Ser29Gly)
5g.93585261A>TCA360525816NR2F1c.163A>T (p.Ser55Cys)
c.238A>T (p.Ser80Cys)
c.85A>T (p.Ser29Cys)
5g.93585262G>ACA360525817NR2F1c.164G>A (p.Ser55Asn)
c.239G>A (p.Ser80Asn)
c.86G>A (p.Ser29Asn)
gnomAD v4
5g.93585262G>CCA360525818NR2F1c.164G>C (p.Ser55Thr)
c.239G>C (p.Ser80Thr)
c.86G>C (p.Ser29Thr)
5g.93585262G=CA1564182798NR2F1c.164G= (p.Ser55=)
c.239G= (p.Ser80=)
c.86G= (p.Ser29=)
5g.93585262G>TCA360525819NR2F1c.164G>T (p.Ser55Ile)
c.239G>T (p.Ser80Ile)
c.86G>T (p.Ser29Ile)
ClinVar dbSNP gnomAD v4
5g.93585263C>ACA360525820NR2F1c.165C>A (p.Ser55Arg)
c.240C>A (p.Ser80Arg)
c.87C>A (p.Ser29Arg)
gnomAD v4
5g.93585263C>GCA360525821NR2F1c.165C>G (p.Ser55Arg)
c.240C>G (p.Ser80Arg)
c.87C>G (p.Ser29Arg)
5g.93585263C>TCA445722132NR2F1c.165C>T (p.Ser55=)
c.240C>T (p.Ser80=)
c.87C>T (p.Ser29=)
5g.93585264C>ACA360525824NR2F1c.166C>A (p.Gln56Lys)
c.241C>A (p.Gln81Lys)
c.88C>A (p.Gln30Lys)
5g.93585264C>GCA360525823NR2F1c.166C>G (p.Gln56Glu)
c.241C>G (p.Gln81Glu)
c.88C>G (p.Gln30Glu)
5g.93585264C>TCA360525822NR2F1c.166C>T (p.Gln56Ter)
c.241C>T (p.Gln81Ter)
c.88C>T (p.Gln30Ter)
5g.93585265A>CCA360525825NR2F1c.167A>C (p.Gln56Pro)
c.242A>C (p.Gln81Pro)
c.89A>C (p.Gln30Pro)
5g.93585265A>GCA360525826NR2F1c.167A>G (p.Gln56Arg)
c.242A>G (p.Gln81Arg)
c.89A>G (p.Gln30Arg)
gnomAD v4
5g.93585265A>TCA360525827NR2F1c.167A>T (p.Gln56Leu)
c.242A>T (p.Gln81Leu)
c.89A>T (p.Gln30Leu)
5g.93585266G>ACA445722133NR2F1c.168G>A (p.Gln56=)
c.243G>A (p.Gln81=)
c.90G>A (p.Gln30=)
dbSNP gnomAD v4
5g.93585266G>CCA360525828NR2F1c.168G>C (p.Gln56His)
c.243G>C (p.Gln81His)
c.90G>C (p.Gln30His)
5g.93585266G=CA1564182799NR2F1c.168G= (p.Gln56=)
c.243G= (p.Gln81=)
c.90G= (p.Gln30=)
5g.93585266G>TCA360525829NR2F1c.168G>T (p.Gln56His)
c.243G>T (p.Gln81His)
c.90G>T (p.Gln30His)
gnomAD v4
5g.93585267C>ACA360525830NR2F1c.169C>A (p.Gln57Lys)
c.244C>A (p.Gln82Lys)
c.91C>A (p.Gln31Lys)
5g.93585267C>GCA360525831NR2F1c.169C>G (p.Gln57Glu)
c.244C>G (p.Gln82Glu)
c.91C>G (p.Gln31Glu)
5g.93585267C>TCA360525832NR2F1c.169C>T (p.Gln57Ter)
c.244C>T (p.Gln82Ter)
c.91C>T (p.Gln31Ter)
ClinVar dbSNP gnomAD v4
5g.93585268A>CCA360525833NR2F1c.170A>C (p.Gln57Pro)
c.245A>C (p.Gln82Pro)
c.92A>C (p.Gln31Pro)
5g.93585268A>GCA360525835NR2F1c.170A>G (p.Gln57Arg)
c.245A>G (p.Gln82Arg)
c.92A>G (p.Gln31Arg)
gnomAD v4
5g.93585268A>TCA360525834NR2F1c.170A>T (p.Gln57Leu)
c.245A>T (p.Gln82Leu)
c.92A>T (p.Gln31Leu)
5g.93585269G>ACA445722134NR2F1c.171G>A (p.Gln57=)
c.246G>A (p.Gln82=)
c.93G>A (p.Gln31=)
ClinVar gnomAD v4
5g.93585269G>CCA360525836NR2F1c.171G>C (p.Gln57His)
c.246G>C (p.Gln82His)
c.93G>C (p.Gln31His)
5g.93585269G>TCA360525837NR2F1c.171G>T (p.Gln57His)
c.246G>T (p.Gln82His)
c.93G>T (p.Gln31His)
5g.93585270C>ACA360525838NR2F1c.172C>A (p.His58Asn)
c.247C>A (p.His83Asn)
c.94C>A (p.His32Asn)
gnomAD v4
5g.93585270C=CA1564182800NR2F1c.172C= (p.His58=)
c.247C= (p.His83=)
c.94C= (p.His32=)
5g.93585270C>GCA360525839NR2F1c.172C>G (p.His58Asp)
c.247C>G (p.His83Asp)
c.94C>G (p.His32Asp)
5g.93585270C>TCA360525840NR2F1c.172C>T (p.His58Tyr)
c.247C>T (p.His83Tyr)
c.94C>T (p.His32Tyr)
dbSNP gnomAD v2 gnomAD v4
5g.93585271A>CCA360525841NR2F1c.173A>C (p.His58Pro)
c.248A>C (p.His83Pro)
c.95A>C (p.His32Pro)
5g.93585271A>GCA360525843NR2F1c.173A>G (p.His58Arg)
c.248A>G (p.His83Arg)
c.95A>G (p.His32Arg)
5g.93585271A>TCA360525842NR2F1c.173A>T (p.His58Leu)
c.248A>T (p.His83Leu)
c.95A>T (p.His32Leu)
5g.93585272C>ACA360525844NR2F1c.174C>A (p.His58Gln)
c.249C>A (p.His83Gln)
c.96C>A (p.His32Gln)
dbSNP gnomAD v4
5g.93585272C=CA1564182801NR2F1c.174C= (p.His58=)
c.249C= (p.His83=)
c.96C= (p.His32=)
5g.93585272C>GCA360525845NR2F1c.174C>G (p.His58Gln)
c.249C>G (p.His83Gln)
c.96C>G (p.His32Gln)
5g.93585272C>TCA445722135NR2F1c.174C>T (p.His58=)
c.249C>T (p.His83=)
c.96C>T (p.His32=)
dbSNP gnomAD v2 gnomAD v4
5g.93585273A=CA1564182802NR2F1c.175A= (p.Ile59=)
c.250A= (p.Ile84=)
c.97A= (p.Ile33=)
5g.93585273A>CCA360525846NR2F1c.175A>C (p.Ile59Leu)
c.250A>C (p.Ile84Leu)
c.97A>C (p.Ile33Leu)
5g.93585273A>GCA360525847NR2F1c.175A>G (p.Ile59Val)
c.250A>G (p.Ile84Val)
c.97A>G (p.Ile33Val)
dbSNP
5g.93585273A>TCA360525848NR2F1c.175A>T (p.Ile59Phe)
c.250A>T (p.Ile84Phe)
c.97A>T (p.Ile33Phe)
5g.93585274T>ACA360525849NR2F1c.176T>A (p.Ile59Asn)
c.251T>A (p.Ile84Asn)
c.98T>A (p.Ile33Asn)
5g.93585274T>CCA360525850NR2F1c.176T>C (p.Ile59Thr)
c.251T>C (p.Ile84Thr)
c.98T>C (p.Ile33Thr)
5g.93585274T>GCA360525851NR2F1c.176T>G (p.Ile59Ser)
c.251T>G (p.Ile84Ser)
c.98T>G (p.Ile33Ser)
5g.93585275C>ACA445722137NR2F1c.177C>A (p.Ile59=)
c.252C>A (p.Ile84=)
c.99C>A (p.Ile33=)
gnomAD v4
5g.93585275C=CA1564182803NR2F1c.177C= (p.Ile59=)
c.252C= (p.Ile84=)
c.99C= (p.Ile33=)
5g.93585275C>GCA3343115NR2F1c.177C>G (p.Ile59Met)
c.252C>G (p.Ile84Met)
c.99C>G (p.Ile33Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.93585275C>TCA445722136NR2F1c.177C>T (p.Ile59=)
c.252C>T (p.Ile84=)
c.99C>T (p.Ile33=)
gnomAD v4
5g.93585276G>ACA360525852NR2F1c.178G>A (p.Glu60Lys)
c.253G>A (p.Glu85Lys)
c.100G>A (p.Glu34Lys)
dbSNP gnomAD v2
5g.93585276G>CCA360525853NR2F1c.178G>C (p.Glu60Gln)
c.253G>C (p.Glu85Gln)
c.100G>C (p.Glu34Gln)
5g.93585276G=CA1564182804NR2F1c.178G= (p.Glu60=)
c.253G= (p.Glu85=)
c.100G= (p.Glu34=)
5g.93585276G>TCA360525854NR2F1c.178G>T (p.Glu60Ter)
c.253G>T (p.Glu85Ter)
c.100G>T (p.Glu34Ter)
dbSNP gnomAD v4
5g.93585277A>CCA360525855NR2F1c.179A>C (p.Glu60Ala)
c.254A>C (p.Glu85Ala)
c.101A>C (p.Glu34Ala)
5g.93585277A>GCA360525857NR2F1c.179A>G (p.Glu60Gly)
c.254A>G (p.Glu85Gly)
c.101A>G (p.Glu34Gly)
5g.93585277A>TCA360525856NR2F1c.179A>T (p.Glu60Val)
c.254A>T (p.Glu85Val)
c.101A>T (p.Glu34Val)
5g.93585278G>ACA3343116NR2F1c.180G>A (p.Glu60=)
c.255G>A (p.Glu85=)
c.102G>A (p.Glu34=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.93585278G>CCA360525858NR2F1c.180G>C (p.Glu60Asp)
c.255G>C (p.Glu85Asp)
c.102G>C (p.Glu34Asp)
ClinVar dbSNP
5g.93585278G=CA1564182805NR2F1c.180G= (p.Glu60=)
c.255G= (p.Glu85=)
c.102G= (p.Glu34=)
5g.93585278G>TCA360525859NR2F1c.180G>T (p.Glu60Asp)
c.255G>T (p.Glu85Asp)
c.102G>T (p.Glu34Asp)
gnomAD v4
5g.93585279T>ACA360525860NR2F1c.181T>A (p.Cys61Ser)
c.256T>A (p.Cys86Ser)
c.103T>A (p.Cys35Ser)
5g.93585279T>CCA360525861NR2F1c.181T>C (p.Cys61Arg)
c.256T>C (p.Cys86Arg)
c.103T>C (p.Cys35Arg)
ClinVar dbSNP gnomAD v4
5g.93585279T>GCA360525862NR2F1c.181T>G (p.Cys61Gly)
c.256T>G (p.Cys86Gly)
c.103T>G (p.Cys35Gly)
5g.93585279T=CA1564182806NR2F1c.181T= (p.Cys61=)
c.256T= (p.Cys86=)
c.103T= (p.Cys35=)
5g.93585280G>ACA360525863NR2F1c.182G>A (p.Cys61Tyr)
c.257G>A (p.Cys86Tyr)
c.104G>A (p.Cys35Tyr)
5g.93585280G>CCA360525864NR2F1c.182G>C (p.Cys61Ser)
c.257G>C (p.Cys86Ser)
c.104G>C (p.Cys35Ser)
5g.93585280G=CA1564182807NR2F1c.182G= (p.Cys61=)
c.257G= (p.Cys86=)
c.104G= (p.Cys35=)
5g.93585280G>TCA360525865NR2F1c.182G>T (p.Cys61Phe)
c.257G>T (p.Cys86Phe)
c.104G>T (p.Cys35Phe)
ClinVar dbSNP
5g.93585281C>ACA360525866NR2F1c.183C>A (p.Cys61Ter)
c.258C>A (p.Cys86Ter)
c.105C>A (p.Cys35Ter)
5g.93585281C=CA1564182808NR2F1c.183C= (p.Cys61=)
c.258C= (p.Cys86=)
c.105C= (p.Cys35=)
5g.93585281C>GCA360525867NR2F1c.183C>G (p.Cys61Trp)
c.258C>G (p.Cys86Trp)
c.105C>G (p.Cys35Trp)
5g.93585281C>TCA3343117NR2F1c.183C>T (p.Cys61=)
c.258C>T (p.Cys86=)
c.105C>T (p.Cys35=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.93585282G>ACA360525870NR2F1c.184G>A (p.Val62Met)
c.259G>A (p.Val87Met)
c.106G>A (p.Val36Met)
gnomAD v4
5g.93585282G>CCA360525869NR2F1c.184G>C (p.Val62Leu)
c.259G>C (p.Val87Leu)
c.106G>C (p.Val36Leu)
5g.93585282G>TCA360525868NR2F1c.184G>T (p.Val62Leu)
c.259G>T (p.Val87Leu)
c.106G>T (p.Val36Leu)
5g.93585283T>ACA360525871NR2F1c.185T>A (p.Val62Glu)
c.260T>A (p.Val87Glu)
c.107T>A (p.Val36Glu)
5g.93585283T>CCA360525872NR2F1c.185T>C (p.Val62Ala)
c.260T>C (p.Val87Ala)
c.107T>C (p.Val36Ala)
5g.93585283T>GCA360525873NR2F1c.185T>G (p.Val62Gly)
c.260T>G (p.Val87Gly)
c.107T>G (p.Val36Gly)
5g.93585284G>ACA445722138NR2F1c.186G>A (p.Val62=)
c.261G>A (p.Val87=)
c.108G>A (p.Val36=)
dbSNP gnomAD v2 gnomAD v4
5g.93585284G>CCA445722139NR2F1c.186G>C (p.Val62=)
c.261G>C (p.Val87=)
c.108G>C (p.Val36=)
5g.93585284G=CA1564182809NR2F1c.186G= (p.Val62=)
c.261G= (p.Val87=)
c.108G= (p.Val36=)
5g.93585284G>TCA445722140NR2F1c.186G>T (p.Val62=)
c.261G>T (p.Val87=)
c.108G>T (p.Val36=)
gnomAD v4
5g.93585285G>ACA10588406NR2F1c.187G>A (p.Val63Met)
c.262G>A (p.Val88Met)
c.109G>A (p.Val37Met)
ClinVar dbSNP gnomAD v4
5g.93585285G>CCA360525874NR2F1c.187G>C (p.Val63Leu)
c.262G>C (p.Val88Leu)
c.109G>C (p.Val37Leu)
5g.93585285G=CA1564182810NR2F1c.187G= (p.Val63=)
c.262G= (p.Val88=)
c.109G= (p.Val37=)
5g.93585285G>TCA360525875NR2F1c.187G>T (p.Val63Leu)
c.262G>T (p.Val88Leu)
c.109G>T (p.Val37Leu)
5g.93585286T>ACA360525876NR2F1c.188T>A (p.Val63Glu)
c.263T>A (p.Val88Glu)
c.110T>A (p.Val37Glu)
gnomAD v4
5g.93585286T>CCA360525877NR2F1c.188T>C (p.Val63Ala)
c.263T>C (p.Val88Ala)
c.110T>C (p.Val37Ala)
5g.93585286T>GCA360525878NR2F1c.188T>G (p.Val63Gly)
c.263T>G (p.Val88Gly)
c.110T>G (p.Val37Gly)
5g.93585287G>ACA445722144NR2F1c.189G>A (p.Val63=)
c.264G>A (p.Val88=)
c.111G>A (p.Val37=)
dbSNP gnomAD v2 gnomAD v4
5g.93585287G>CCA445722145NR2F1c.189G>C (p.Val63=)
c.264G>C (p.Val88=)
c.111G>C (p.Val37=)
5g.93585287G=CA1564182811NR2F1c.189G= (p.Val63=)
c.264G= (p.Val88=)
c.111G= (p.Val37=)
5g.93585287G>TCA445722146NR2F1c.189G>T (p.Val63=)
c.264G>T (p.Val88=)
c.111G>T (p.Val37=)
dbSNP gnomAD v2
5g.93585288T>ACA360525879NR2F1c.190T>A (p.Cys64Ser)
c.265T>A (p.Cys89Ser)
c.112T>A (p.Cys38Ser)
5g.93585288T>CCA360525880NR2F1c.190T>C (p.Cys64Arg)
c.265T>C (p.Cys89Arg)
c.112T>C (p.Cys38Arg)
ClinVar dbSNP
5g.93585288T>GCA360525881NR2F1c.190T>G (p.Cys64Gly)
c.265T>G (p.Cys89Gly)
c.112T>G (p.Cys38Gly)
ClinVar
5g.93585288T=CA1564182812NR2F1c.190T= (p.Cys64=)
c.265T= (p.Cys89=)
c.112T= (p.Cys38=)
5g.93585289G>ACA360525884NR2F1c.191G>A (p.Cys64Tyr)
c.266G>A (p.Cys89Tyr)
c.113G>A (p.Cys38Tyr)
ClinVar gnomAD v4
5g.93585289G>CCA360525882NR2F1c.191G>C (p.Cys64Ser)
c.266G>C (p.Cys89Ser)
c.113G>C (p.Cys38Ser)
5g.93585289G>TCA360525883NR2F1c.191G>T (p.Cys64Phe)
c.266G>T (p.Cys89Phe)
c.113G>T (p.Cys38Phe)
5g.93585290C>ACA360525885NR2F1c.192C>A (p.Cys64Ter)
c.267C>A (p.Cys89Ter)
c.114C>A (p.Cys38Ter)
5g.93585290C=CA1564182813NR2F1c.192C= (p.Cys64=)
c.267C= (p.Cys89=)
c.114C= (p.Cys38=)
5g.93585290C>GCA360525886NR2F1c.192C>G (p.Cys64Trp)
c.267C>G (p.Cys89Trp)
c.114C>G (p.Cys38Trp)
5g.93585290C>TCA445722147NR2F1c.192C>T (p.Cys64=)
c.267C>T (p.Cys89=)
c.114C>T (p.Cys38=)
dbSNP gnomAD v2 gnomAD v4
5g.93585291G>ACA360525887NR2F1c.193G>A (p.Gly65Arg)
c.268G>A (p.Gly90Arg)
c.115G>A (p.Gly39Arg)
5g.93585291G>CCA360525888NR2F1c.193G>C (p.Gly65Arg)
c.268G>C (p.Gly90Arg)
c.115G>C (p.Gly39Arg)
5g.93585291G>TCA360525889NR2F1c.193G>T (p.Gly65Trp)
c.268G>T (p.Gly90Trp)
c.115G>T (p.Gly39Trp)

Number of alleles fetched