Single missense mutation

DesignationISBT nameHaplotypePhenotypeClusterAlterationsFirst mentionDefinitive publication
CO(A168T)Coltonmain cluster502G>A (A168T)
2009
CO*01N.03CO*01N.03ColtonCo(a-)
Co(b-)
Co:-3
main cluster576C>A (N192K)
19991999
CO*M.01CO*M.01ColtonCo3+ weak
Co(a-)
Co(b-)
main cluster113C>T (P38L)
19941994
CO*01N.05CO*01N.05ColtonCo(a-)
Co(b-)
main cluster112C>T (P38S)
20092010
CO(Q47R)CO*01.-04ColtonCo:-4
Co(a-)
Co(b-)
Co3+
main cluster140A>G (Q47R)
20022010
CO*02CO*02
CO*B
ColtonCo(b+)
Co(a-)
Co3+
main cluster134C>T (A45V)
19941994
Co(A45T)ColtonCo(b+)
Co(a-)
main Cluster133G>A (A45T)
20102010