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World J Clin Pediatr. Jun 9, 2026; 15(2): 114189
Published online Jun 9, 2026. doi: 10.5409/wjcp.v15.i2.114189
Table 2 Genetic variants identified in patients
Patients
Gene
GRCh38
Nucleotide change
Amino acid change
db SNP, MAF%
CADD
SIFTcat
PolyPhenCat
Patient 1TRPM4Chr19:49200722, NM 017636.4: C.C2890Ap.Arg964Serrs749078579, 0.001592%26DeleteriousPD
Patient 2TRPM4Chr19:49210799NM 017636.4: C.A3418Tp.Lys1140TerNo data45NANA
Patient 2MYPNChr10: 68201958 NM 032578.4: C.A3623Tp.Asp1208ValNo data32DeleteriousPD


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