Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.50489817G>ACA10319002MIOXc.819G>A (p.Gly273=)
c.805G>A (p.Ala269Thr)
c.688G>A (p.Ala230Thr)
c.759G>A (p.Gly253=)
c.681G>A (p.Gly227=)
n.3315G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50489817G>CCA412150510MIOXc.819G>C (p.Gly273=)
c.805G>C (p.Ala269Pro)
c.688G>C (p.Ala230Pro)
c.759G>C (p.Gly253=)
c.681G>C (p.Gly227=)
n.3315G>C
22g.50489817G=CA2410885346MIOXc.819G= (p.Gly273=)
c.805G= (p.Ala269=)
c.688G= (p.Ala230=)
c.759G= (p.Gly253=)
c.681G= (p.Gly227=)
n.3315G=
22g.50489817G>TCA412150507MIOXc.819G>T (p.Gly273=)
c.805G>T (p.Ala269Ser)
c.688G>T (p.Ala230Ser)
c.759G>T (p.Gly253=)
c.681G>T (p.Gly227=)
n.3315G>T
 gnomAD v4
22g.50489818C>ACA412150511MIOXc.820C>A (p.Leu274Ile)
c.806C>A (p.Ala269Asp)
c.689C>A (p.Ala230Asp)
c.760C>A (p.Leu254Ile)
c.682C>A (p.Leu228Ile)
n.3316C>A
22g.50489818C=CA2410885347MIOXc.820C= (p.Leu274=)
c.806C= (p.Ala269=)
c.689C= (p.Ala230=)
c.760C= (p.Leu254=)
c.682C= (p.Leu228=)
n.3316C=
22g.50489818C>GCA412150512MIOXc.820C>G (p.Leu274Val)
c.806C>G (p.Ala269Gly)
c.689C>G (p.Ala230Gly)
c.760C>G (p.Leu254Val)
c.682C>G (p.Leu228Val)
n.3316C>G
 dbSNP gnomAD v2 gnomAD v4
22g.50489818C>TCA412150514MIOXc.820C>T (p.Leu274Phe)
c.806C>T (p.Ala269Val)
c.689C>T (p.Ala230Val)
c.760C>T (p.Leu254Phe)
c.682C>T (p.Leu228Phe)
n.3316C>T
22g.50489819T>ACA412150517MIOXc.821T>A (p.Leu274His)
c.807T>A (p.Ala269=)
c.690T>A (p.Ala230=)
c.761T>A (p.Leu254His)
c.683T>A (p.Leu228His)
n.3317T>A
22g.50489819T>CCA412150520MIOXc.821T>C (p.Leu274Pro)
c.807T>C (p.Ala269=)
c.690T>C (p.Ala230=)
c.761T>C (p.Leu254Pro)
c.683T>C (p.Leu228Pro)
n.3317T>C
22g.50489819T>GCA412150521MIOXc.821T>G (p.Leu274Arg)
c.807T>G (p.Ala269=)
c.690T>G (p.Ala230=)
c.761T>G (p.Leu254Arg)
c.683T>G (p.Leu228Arg)
n.3317T>G
 dbSNP gnomAD v3 gnomAD v4
22g.50489819T=CA2410885348MIOXc.821T= (p.Leu274=)
c.807T= (p.Ala269=)
c.690T= (p.Ala230=)
c.761T= (p.Leu254=)
c.683T= (p.Leu228=)
n.3317T=
22g.50489820C>ACA10319003MIOXc.822C>A (p.Leu274=)
c.808C>A (p.His270Asn)
c.691C>A (p.His231Asn)
c.762C>A (p.Leu254=)
c.684C>A (p.Leu228=)
n.3318C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50489820C=CA2410885349MIOXc.822C= (p.Leu274=)
c.808C= (p.His270=)
c.691C= (p.His231=)
c.762C= (p.Leu254=)
c.684C= (p.Leu228=)
n.3318C=
22g.50489820C>GCA412150522MIOXc.822C>G (p.Leu274=)
c.808C>G (p.His270Asp)
c.691C>G (p.His231Asp)
c.762C>G (p.Leu254=)
c.684C>G (p.Leu228=)
n.3318C>G
22g.50489820C>TCA325521872MIOXc.822C>T (p.Leu274=)
c.808C>T (p.His270Tyr)
c.691C>T (p.His231Tyr)
c.762C>T (p.Leu254=)
c.684C>T (p.Leu228=)
n.3318C>T
 dbSNP gnomAD v3 gnomAD v4
22g.50489821A>CCA412150524MIOXc.823A>C (p.Ile275Leu)
c.809A>C (p.His270Pro)
c.692A>C (p.His231Pro)
c.763A>C (p.Ile255Leu)
c.685A>C (p.Ile229Leu)
n.3319A>C
22g.50489821A>GCA412150527MIOXc.823A>G (p.Ile275Val)
c.809A>G (p.His270Arg)
c.692A>G (p.His231Arg)
c.763A>G (p.Ile255Val)
c.685A>G (p.Ile229Val)
n.3319A>G
22g.50489821A>TCA412150532MIOXc.823A>T (p.Ile275Phe)
c.809A>T (p.His270Leu)
c.692A>T (p.His231Leu)
c.763A>T (p.Ile255Phe)
c.685A>T (p.Ile229Phe)
n.3319A>T
22g.50489822T>ACA412150540MIOXc.824T>A (p.Ile275Asn)
c.810T>A (p.His270Gln)
c.693T>A (p.His231Gln)
c.764T>A (p.Ile255Asn)
c.686T>A (p.Ile229Asn)
n.3320T>A
22g.50489822T>CCA412150539MIOXc.824T>C (p.Ile275Thr)
c.810T>C (p.His270=)
c.693T>C (p.His231=)
c.764T>C (p.Ile255Thr)
c.686T>C (p.Ile229Thr)
n.3320T>C
22g.50489822T>GCA412150538MIOXc.824T>G (p.Ile275Ser)
c.810T>G (p.His270Gln)
c.693T>G (p.His231Gln)
c.764T>G (p.Ile255Ser)
c.686T>G (p.Ile229Ser)
n.3320T>G
22g.50489823T>ACA412150541MIOXc.825T>A (p.Ile275=)
c.811T>A (p.Ter271Arg)
c.694T>A (p.Ter232Arg)
c.765T>A (p.Ile255=)
c.687T>A (p.Ile229=)
n.3321T>A
22g.50489823T>CCA412150566MIOXc.825T>C (p.Ile275=)
c.811T>C (p.Ter271Arg)
c.694T>C (p.Ter232Arg)
c.765T>C (p.Ile255=)
c.687T>C (p.Ile229=)
n.3321T>C
22g.50489823T>GCA412150551MIOXc.825T>G (p.Ile275Met)
c.811T>G (p.Ter271Gly)
c.694T>G (p.Ter232Gly)
c.765T>G (p.Ile255Met)
c.687T>G (p.Ile229Met)
n.3321T>G
22g.50489824G>ACA412150568MIOXc.826G>A (p.Asp276Asn)
c.812G>A (p.Ter271=)
c.695G>A (p.Ter232=)
c.766G>A (p.Asp256Asn)
c.688G>A (p.Asp230Asn)
n.3322G>A
22g.50489824G>CCA412150571MIOXc.826G>C (p.Asp276His)
c.812G>C (p.Ter271Ser)
c.695G>C (p.Ter232Ser)
c.766G>C (p.Asp256His)
c.688G>C (p.Asp230His)
n.3322G>C
22g.50489824G>TCA412150569MIOXc.826G>T (p.Asp276Tyr)
c.812G>T (p.Ter271Leu)
c.695G>T (p.Ter232Leu)
c.766G>T (p.Asp256Tyr)
c.688G>T (p.Asp230Tyr)
n.3322G>T
 gnomAD v4
22g.50489825A>CCA412150574MIOXc.827A>C (p.Asp276Ala)
c.813A>C (p.Ter271Cys)
c.696A>C (p.Ter232Cys)
c.767A>C (p.Asp256Ala)
c.689A>C (p.Asp230Ala)
n.3323A>C
22g.50489825A>GCA412150580MIOXc.827A>G (p.Asp276Gly)
c.813A>G (p.Ter271Trp)
c.696A>G (p.Ter232Trp)
c.767A>G (p.Asp256Gly)
c.689A>G (p.Asp230Gly)
n.3323A>G
22g.50489825A>TCA412150578MIOXc.827A>T (p.Asp276Val)
c.813A>T (p.Ter271Cys)
c.696A>T (p.Ter232Cys)
c.767A>T (p.Asp256Val)
c.689A>T (p.Asp230Val)
n.3323A>T
22g.50489826C>ACA412150583MIOXc.828C>A (p.Asp276Glu)
c.*1C>A (n.*1C>A)
c.768C>A (p.Asp256Glu)
c.690C>A (p.Asp230Glu)
n.3324C>A
 gnomAD v4
22g.50489826C=CA2410885350MIOXc.828C= (p.Asp276=)
c.*1C= (n.*1C=)
c.768C= (p.Asp256=)
c.690C= (p.Asp230=)
n.3324C=
22g.50489826C>GCA412150586MIOXc.828C>G (p.Asp276Glu)
c.*1C>G (n.*1C>G)
c.768C>G (p.Asp256Glu)
c.690C>G (p.Asp230Glu)
n.3324C>G
22g.50489826C>TCA10319004MIOXc.828C>T (p.Asp276=)
c.*1C>T (n.*1C>T)
c.768C>T (p.Asp256=)
c.690C>T (p.Asp230=)
n.3324C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50489827A>CCA412150595MIOXc.829A>C (p.Lys277Gln)
c.*2A>C (n.*2A>C)
c.769A>C (p.Lys257Gln)
c.691A>C (p.Lys231Gln)
n.3325A>C
22g.50489827A>GCA412150598MIOXc.829A>G (p.Lys277Glu)
c.*2A>G (n.*2A>G)
c.769A>G (p.Lys257Glu)
c.691A>G (p.Lys231Glu)
n.3325A>G
22g.50489827A>TCA412150600MIOXc.829A>T (p.Lys277Ter)
c.*2A>T (n.*2A>T)
c.769A>T (p.Lys257Ter)
c.691A>T (p.Lys231Ter)
n.3325A>T
22g.50489828A>CCA412150607MIOXc.830A>C (p.Lys277Thr)
c.*3A>C (n.*3A>C)
c.770A>C (p.Lys257Thr)
c.692A>C (p.Lys231Thr)
n.3326A>C
22g.50489828A>GCA412150601MIOXc.830A>G (p.Lys277Arg)
c.*3A>G (n.*3A>G)
c.770A>G (p.Lys257Arg)
c.692A>G (p.Lys231Arg)
n.3326A>G
22g.50489828A>TCA412150604MIOXc.830A>T (p.Lys277Met)
c.*3A>T (n.*3A>T)
c.770A>T (p.Lys257Met)
c.692A>T (p.Lys231Met)
n.3326A>T
22g.50489829G>ACA515385220MIOXc.831G>A (p.Lys277=)
c.*4G>A (n.*4G>A)
c.771G>A (p.Lys257=)
c.693G>A (p.Lys231=)
n.3327G>A
22g.50489829G>CCA325521880MIOXc.831G>C (p.Lys277Asn)
c.*4G>C (n.*4G>C)
c.771G>C (p.Lys257Asn)
c.693G>C (p.Lys231Asn)
n.3327G>C
 dbSNP gnomAD v4
22g.50489829G=CA2410885351MIOXc.831G= (p.Lys277=)
c.*4G= (n.*4G=)
c.771G= (p.Lys257=)
c.693G= (p.Lys231=)
n.3327G=
22g.50489829G>TCA412150608MIOXc.831G>T (p.Lys277Asn)
c.*4G>T (n.*4G>T)
c.771G>T (p.Lys257Asn)
c.693G>T (p.Lys231Asn)
n.3327G>T
 dbSNP gnomAD v2 gnomAD v4
22g.50489830T>ACA412150611MIOXc.832T>A (p.Tyr278Asn)
c.*5T>A (n.*5T>A)
c.772T>A (p.Tyr258Asn)
c.694T>A (p.Tyr232Asn)
n.3328T>A
22g.50489830T>CCA412150616MIOXc.832T>C (p.Tyr278His)
c.*5T>C (n.*5T>C)
c.772T>C (p.Tyr258His)
c.694T>C (p.Tyr232His)
n.3328T>C
22g.50489830T>GCA412150621MIOXc.832T>G (p.Tyr278Asp)
c.*5T>G (n.*5T>G)
c.772T>G (p.Tyr258Asp)
c.694T>G (p.Tyr232Asp)
n.3328T>G
22g.50489831A>CCA412150623MIOXc.833A>C (p.Tyr278Ser)
c.*6A>C (n.*6A>C)
c.773A>C (p.Tyr258Ser)
c.695A>C (p.Tyr232Ser)
n.3329A>C
22g.50489831A>GCA412150626MIOXc.833A>G (p.Tyr278Cys)
c.*6A>G (n.*6A>G)
c.773A>G (p.Tyr258Cys)
c.695A>G (p.Tyr232Cys)
n.3329A>G
 ClinVar

Number of alleles fetched