All of V0246

ID Consequence Gene/Location Detail Geno Type CHD Type
S0599 missense_variant NFATC1 NM_006162.5:c.(2251T>G) Cys/Cys isolated CHD: valvulo septal defects
S0600 missense_variant NFATC1 NM_006162.5:c.(2251T>G) Cys/Gly isolated CHD: valvulo septal defects
S0601 missense_variant NFATC1 NM_006162.5:c.(2251T>G) Gly/Gly isolated CHD: valvulo septal defects
S0602 missense_variant NFATC1 NM_006162.5:c.(2251T>G) Cys/Cys+Cys/Gly isolated CHD: valvulo septal defects