NO. | Mutation type | Trivial name (Protein effect) | Systematic name (DNA level) | PolyPhen-2 | PROVEAN | MutationTaster |
---|---|---|---|---|---|---|
1 | Splice | IVS4-14C > T | c.442-14 C > T | Polymorphism | ||
2 | IVS8 + 16 T > A | c.912 + 16 T > A | Polymorphism | |||
3 | IVS10-13delT | c.1066-13delT | Polymorphism | |||
4 | IVS11-3 T > G | c.1200-3 T > G | Disease-causing | |||
5 | p.Tyr154* | c.462C > A | Disease-causing | |||
6 | Nonsense | p.Tyr268* | c.804C > A | Disease-causing | ||
7 | p.Arg155Valfs*40 | c.463delC | Disease-causing | |||
8 | Frameshift | p.Ser231Valfs*52 | c.690-691insG | Disease-causing | ||
9 | p.Leu194Glufs*6 | c.580C > GA | Disease-causing | |||
10 | p.Asp75His | c.223 G > C | Damaging | Neutral | Disease-causing | |
11 | p.Ile94Val | c.280 A > G | Benign | Neutral | Disease-causing | |
12 | p.Gly188Val | c.563G > T | Damaging | Deleterious | Disease-causing | |
13 | p.Cys203Ser | c.607 T > A | Damaging | Deleterious | Disease-causing | |
14 | p.Leu227Val | c.679C > G | Damaging | Deleterious | Disease-causing | |
15 | Missense | p.Glu228Asp | c.684A > C | Benign | Neutral | Disease-causing |
16 | p.Ser250Phe | c.749C > T | Damaging | Deleterious | Disease-causing | |
17 | p.Ser310Cys | c.929C > G | Damaging | Deleterious | Disease-causing | |
18 | p.Ser339Phe | c.992 T > C | Damaging | Deleterious | Disease-causing | |
19 | p.Lys341Asn | c.1023G > C | Damaging | Deleterious | Disease-causing | |
20 | p.Pro362Ser | c.1084 C > T | Damaging | Deleterious | Disease-causing | |
21 | p.Pro366Ala | c.1096 C > G | Benign | Deleterious | Disease-causing | |
22 | p.Leu444Phe | c.1330 C > T | Damaging | Deleterious | Disease-causing |