CO: Alleles by mutation

GRCh38.p12PositionSubstitutionEffectTemplatedAlleles
5' region
00del Exon 1CO*N.01
Exon 1
112112C>TP38SCO*01N.05
113113C>TP38LCO*M.01
133133G>AA45TCo(A45T)
134134C>TA45VCO*02
140140A>GQ47RCO(Q47R)
232232delGCO*01N.04
307307insTCO*N.02
IVS 1
Exon 2
502502G>AA168TCO(A168T)
IVS 2
Exon 3
576576C>AN192KCO*01N.03
601601delGCO*01N.06
IVS 3
Exon 4 and 3' utr