COL3A1 Splice 1/10 Natera 2022
DYNC1H1 chr14:101980529 p.Val314Ile 33.7% 3679/16152 82 90% 8/10 5 +
FAM157A p.Trp70_Gln71ins(14) 1/10 Tempus 2022
GTF3C5 chr9:133057893 p.Glu503_Glu506del 20.0% 571/3954 6/10
SMC5 chr9:70298024 p.Arg371Lys 8.0% 258/6892 17% 2/10 1