| Code . | AA Change . | SIFT . | Polyphen . | Mutation Taster . | Mutation Assessor . | CADD . |
|---|---|---|---|---|---|---|
| UC2766SGR | c.C2104T (p.R702W) | D | D | N | M | 24.1 |
| UC2766SGR | c.C2050T (p.R684W) | D | B | N | M | 23.2 |
| UC3356SGR | c.C2104T (p.R702W) | D | D | N | M | 24.1 |
| UC537SGR | c.A866G (p.Asn289S) | T | B | D | M | 0.03 |
| CD4885SGR | c.G2722C (p.Gly908R) | D | D | D | L | 31 |
| CD4885SGR | c.C2104T (p.R702W) | D | D | N | M | 24.1 |
| CD4081SGR | c.3019dupC (p.L1007Profs) | . | . | . | . | . |
| UC5173SGR | c.C2104T (p.R702W) | D | D | N | M | 24.1 |
| UC3964SGR | c.3019dupC (p.L1007Profs) | . | . | . | . | . |
| UC5425SGR | c.T743G (p.L248R) | D | D | D | M | 25.3 |
| Code . | AA Change . | SIFT . | Polyphen . | Mutation Taster . | Mutation Assessor . | CADD . |
|---|---|---|---|---|---|---|
| UC2766SGR | c.C2104T (p.R702W) | D | D | N | M | 24.1 |
| UC2766SGR | c.C2050T (p.R684W) | D | B | N | M | 23.2 |
| UC3356SGR | c.C2104T (p.R702W) | D | D | N | M | 24.1 |
| UC537SGR | c.A866G (p.Asn289S) | T | B | D | M | 0.03 |
| CD4885SGR | c.G2722C (p.Gly908R) | D | D | D | L | 31 |
| CD4885SGR | c.C2104T (p.R702W) | D | D | N | M | 24.1 |
| CD4081SGR | c.3019dupC (p.L1007Profs) | . | . | . | . | . |
| UC5173SGR | c.C2104T (p.R702W) | D | D | N | M | 24.1 |
| UC3964SGR | c.3019dupC (p.L1007Profs) | . | . | . | . | . |
| UC5425SGR | c.T743G (p.L248R) | D | D | D | M | 25.3 |
Three major variants in bold.
Abbreviations: nsSNP, nonsynonymous SNPs; VUS, variant of uncertain significance; AA change, amino acid change; CLINSIG, clinical significance. SIFT (sorting intolerant from tolerant): D, deleterious; T, tolerated. Polyphen (polymorphism phenotyping): D, probably damaging; P, possibly damaging; B, benign. CADD (combined annotation dependent depletion). Mutation Taster: A, disease causing (predicted as disease causing in ClinVar); D, disease causing; N, polymorphism; P, polymorphism-automatic (predicted as neutral in ClinVar). Mutation Assessor: H, high; M, medium; L, low; N, neutral.
| Code . | AA Change . | SIFT . | Polyphen . | Mutation Taster . | Mutation Assessor . | CADD . |
|---|---|---|---|---|---|---|
| UC2766SGR | c.C2104T (p.R702W) | D | D | N | M | 24.1 |
| UC2766SGR | c.C2050T (p.R684W) | D | B | N | M | 23.2 |
| UC3356SGR | c.C2104T (p.R702W) | D | D | N | M | 24.1 |
| UC537SGR | c.A866G (p.Asn289S) | T | B | D | M | 0.03 |
| CD4885SGR | c.G2722C (p.Gly908R) | D | D | D | L | 31 |
| CD4885SGR | c.C2104T (p.R702W) | D | D | N | M | 24.1 |
| CD4081SGR | c.3019dupC (p.L1007Profs) | . | . | . | . | . |
| UC5173SGR | c.C2104T (p.R702W) | D | D | N | M | 24.1 |
| UC3964SGR | c.3019dupC (p.L1007Profs) | . | . | . | . | . |
| UC5425SGR | c.T743G (p.L248R) | D | D | D | M | 25.3 |
| Code . | AA Change . | SIFT . | Polyphen . | Mutation Taster . | Mutation Assessor . | CADD . |
|---|---|---|---|---|---|---|
| UC2766SGR | c.C2104T (p.R702W) | D | D | N | M | 24.1 |
| UC2766SGR | c.C2050T (p.R684W) | D | B | N | M | 23.2 |
| UC3356SGR | c.C2104T (p.R702W) | D | D | N | M | 24.1 |
| UC537SGR | c.A866G (p.Asn289S) | T | B | D | M | 0.03 |
| CD4885SGR | c.G2722C (p.Gly908R) | D | D | D | L | 31 |
| CD4885SGR | c.C2104T (p.R702W) | D | D | N | M | 24.1 |
| CD4081SGR | c.3019dupC (p.L1007Profs) | . | . | . | . | . |
| UC5173SGR | c.C2104T (p.R702W) | D | D | N | M | 24.1 |
| UC3964SGR | c.3019dupC (p.L1007Profs) | . | . | . | . | . |
| UC5425SGR | c.T743G (p.L248R) | D | D | D | M | 25.3 |
Three major variants in bold.
Abbreviations: nsSNP, nonsynonymous SNPs; VUS, variant of uncertain significance; AA change, amino acid change; CLINSIG, clinical significance. SIFT (sorting intolerant from tolerant): D, deleterious; T, tolerated. Polyphen (polymorphism phenotyping): D, probably damaging; P, possibly damaging; B, benign. CADD (combined annotation dependent depletion). Mutation Taster: A, disease causing (predicted as disease causing in ClinVar); D, disease causing; N, polymorphism; P, polymorphism-automatic (predicted as neutral in ClinVar). Mutation Assessor: H, high; M, medium; L, low; N, neutral.
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