All of V2294

ID Consequence Gene/Location Detail Geno Type CHD Type
S4214 missense_variant EGLN1 NM_022051.2:c.380G>C C isolated CHD: TOF/DORV/PTA/TGA/AVSD
S4215 missense_variant EGLN1 NM_022051.2:c.380G>C G/G isolated CHD: TOF/DORV/PTA/TGA/AVSD

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