这种突变发生在ENSMUSG00000062949基因的第27个内含子(位置57,491,646),是一个G变A的转换,影响了内含子/外显子的剪接位点。(来源:J:71802, J:94077, J:171924)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count