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Table 1 Previously reported genetic variants of COL2A1 causing the OMIA 001926-9913 bulldog calf syndrome in cattle

From: A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle

Inheritance Type of variant Varianta Breed References
AD, mosaicism Missense g.32307658G > A
p.Gly960Arg
Holstein [13]
AD, mosaicism Splicing g.32305226G > A Holstein [8]
AD, mosaicism Missense g.32301746G > A
p.Gly600Asp
Charolais × Salers [12]
AD, de novo Missense g.32303739G > A
p.Gly720Ser
Holstein [12]
AD, mosaicism Missense g.32308008G > A
p.Gly996Ser
Holstein [9]
AD, de novo Missense g.32308734G > A
p.Gly1056Ser
Holstein [14]
  1. AD autosomal dominant, OMIA Online Mendelian Inheritance in Animals, https://omia.org/home/
  2. aGiven positions correspond to chromosome 5 of the ARS-UCD1.2 assembly and NP_001001135.2