ID | Mutation | gnomAD | CADD | SIFT | Polyphen-2 | Mutationtster | GERP++ | Pathogenicity Classification | References |
---|---|---|---|---|---|---|---|---|---|
1 | c.72C > A(p. Cys24Stop) | 0 | 24 | Deleterious (0) | Damaging (1) | Disease Causing (1) | Yes (5.27) | Likely Pathogenic | [11] |
2 | c.137 T > A (p.Leu46Gln) | 0 | 23.8 | Tolerated (0.1) | Damaging (1.0) | Disease Causing (1) | Yes (4.07) | Uncertain Significance | [12] |
3 | c.172A > G(p.Lys58Glu) | 0.000006 | 26.9 | Deleterious (0) | Damaging (0.99) | Disease Causing (1) | Yes (5.96) | Uncertain Significance | [12] |
4 | c.259C > T(p.Arg87Cys) | 0.00001 | 31 | Deleterious (0) | Damaging (0.94) | Disease Causing (1) | Yes (5.3) | Uncertain Significance | [12] |
5 | c.349G > A (p.Asp117Asn) | 0.00000397 | 23.9 | Tolerated(0.12) | Benign(0.186) | Disease Causing (1) | Yes (5.65) | Likely Pathogenic | This study |
6 | c.413G > A (p.Arg138His) | 0.000028 | 34 | Deleterious (0) | Damaging (1) | Disease Causing (1) | Yes (6.17) | Uncertain Significance | [11] |
7 | c.448C > T(p.Arg150Cys) | 0.00005 | 32 | Deleterious (0) | Damaging (1) | Disease Causing (1) | Yes (5.3) | Likely Pathogenic | [12] |
8 | c.598C > G(p.Leu200Val) | 0.00003 | 26.7 | Deleterious (0) | Damaging (1) | Disease Causing (1) | Yes (4.38) | Likely Pathogenic | [1] |
9 | c.647G > A(p.Arg216Gln) | 0.00000797 | 23.4 | Tolerated(0.15) | Damaging(0.989) | Disease Causing (1) | Yes (5.18) | Uncertain Significance | [10] |
10 | c.697C > T(p.Arg233Cys) | 0 | 33 | Deleterious(0) | Damaging(0.999) | Disease Causing (1) | Yes (5.3) | Uncertain Significance | [10] |
11 | c.828delTinsGTATCCCTAGTATTTCTACTA (p.Gly277TyrfsTer3) | 0 | / | / | / | / | / | Likely Pathogenic | [11] |
12 | c.908 T > C (p.Leu303Pro) | 0.000008 | 24.2 | Deleterious (0) | Benign(0.047) | Disease Causing (1) | Yes (5.78) | Likely Pathogenic | This study |
13 | c.980G > A(p.Arg327Gln) | 0.000004 | 34 | Deleterious (0) | Damaging (1) | Disease Causing (1) | Yes (3.95) | Uncertain Significance | [12] |
14 | c.1010A > G(p.Tyr337Cys) | 0.000004 | 28.3 | Deleterious (0) | Damaging (1) | Disease Causing (1) | Yes (5.67) | Uncertain Significance | [4] |
15 | c.1102G > T(p.Val368Leu) | 0.000008 | 25.9 | Deleterious (0) | Damaging (0.99) | Disease Causing (1) | Yes (5.67) | Likely Pathogenic | [1] |
16 | c.1439G > A(p.Arg480His) | 0.000074 | 35 | Deleterious (0) | Damaging (1) | Disease Causing (1) | Yes (5.5) | Likely pathogenic | [11] |