Patient number | Exon/Intron | Nucleotide change | Amino acid change | Type | MutationTaster | SIFT | PROVEAN | PolyPhen-2 | HSF | Ref. |
---|---|---|---|---|---|---|---|---|---|---|
001 | IVS42 | c.8559-2A > G | – | Heterozygous | Disease causing | – | – | – | Potential alteration of splicing | [17] |
002 | EX19 | c.4217C > A | p.Ser1406X | Heterozygous | Disease causing | Damaging | Deleterious | – | – | Novel |
002 | EX61 | c.11780A > G | p.Asp3927Gly | Heterozygous | Disease causing | Tolerated | Deleterious | Probably damaging (Score 0.911) | – | Novel |
003 | IVS58 | c.11389 + 3A > T | – | Heterozygous | Disease causing | – | – | – | Potential alteration of splicing | SCV000579424.1 |
004 | EX42 | c.8232G > C | p.Trp2744Cys | Heterozygous | Disease causing | Damaging | Deleterious | Probably damaging(Score 1.000) | – | [18] |
004 | IVS42 | c.8559-2A > G | – | Heterozygous | Disease causing | – | – | – | Potential alteration of splicing | [17] |