Fig. 2: Graphic visualization of the different types of haplotypes identified. | European Journal of Human Genetics

Fig. 2: Graphic visualization of the different types of haplotypes identified.

From: Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution

Fig. 2

A wildtype configuration. B CYP21A1P intact, pathogenic variant in CYP21A2. C CYP21A2 deleted, two copies of CYP21A1P. D CYP21A2 deleted, three copies of CYP21A1P. E CYP21A2 deleted, one copy of CYP21A1P. F two copies of CYP21A1P and pathogenic variant in CYP21A2. G Chimera where the majority of CYP21A2 is replaced by CYP21A1P. H Chimera where part of CYP21A2 is replaced by CYP21A1P. I CYP21A1P deleted, pathogenic variant in CYP21A2. J Allele where only a CYP21A2/CYP21A1P chimera is present (no intact pseudogene or gene).

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