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Table 2 Pathogenic PIK3R1 allelic variants in individuals with SHORT syndrome

From: SHORT syndrome in a two-year-old girl – case report

  DNA nucleotide change Protein amino acid change References
1 c.1465G>A p.Glu489Lys [11, 24]
2 c.1615_1617delATT p.Ile539del [11, 24]
3 c.1892G>A p.Arg631Gln [24]
4 c.1906_1907delAA p.Asn636ProfsTer17 [24]
5 c.1906_1907insC p.Asn636Thrfs*18 [1]
6 c.1929_1933delTGGCA p.Asp643Aspfs*8 [8]
7 c.1943dupT p.Arg649ProfsTer5 [11, 24]
8 c.1945C>T p.Arg649Trp [1, 3, 8, 11, 12, 24]
9 c.1971T>G p.Tyr657Ter [11, 24]
10 c.1956dupT p.Lys653* newly described