No. | Chr | Position | Reference | Variant | EnsemblTranscriptID | EnsemblGeneID | Gene_Start | Gene_End | EnsemblProteinID | Gene | strand | Uniprot | cChange | pChange | Nature | dbSNP | Freq | EVS | phastCons | SIFT | Polyphen | HGMD | type | samples |
---|
1 | 16 | 89985633 | T | +C | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 1 |
2 | 16 | 89985643 | C | T | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | - | - | 5'_UTR | rs190819948 | 0.0016 | T=0/C=8166;T=2/C=3920;T=2/C=12086 | - | - | - | - | het | 2 |
3 | 16 | 89985750 | C | +A | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | c.84_85insA | p.N29NA | non-syn | NA | - | - | lod=13:243 | - | - | - | het | 3 |
4 | 16 | 89985792 | C | T | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | c.126C>T | p.D42D | syn | NA | - | T=1/C=8369;T=0/C=4038;T=1/C=12407 | lod=177:522 | - | - | - | het | 1 |
5 | 16 | 89985844 | G | T | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | c.178G>T | p.V60L | non-syn | rs1805005 | 0.1259 | T=1137/G=7385;T=98/G=4236;T=1235/G=11621 | lod=62:410 | DAMAGING | - | Fair hair, association with | hom | 6 |
6 | 16 | 89985844 | G | T | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | c.178G>T | p.V60L | non-syn | rs1805005 | 0.1259 | T=1137/G=7385;T=98/G=4236;T=1235/G=11621 | lod=62:410 | DAMAGING | - | Fair hair, association with | het | 193 |
7 | 16 | 89985866 | G | A | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | c.200G>A | p.R67Q | non-syn | rs34090186 | 0.0014 | A=2/G=8536;A=0/G=4366;A=2/G=12902 | lod=136:494 | DAMAGING | - | - | het | 2 |
8 | 16 | 89985913 | T | C | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | c.247T>C | p.S83P | non-syn | rs34474212 | - | C=9/T=8557;C=1/T=4377;C=10/T=12934 | lod=18:278 | DAMAGING | - | Red hair, association with | het | 1 |
9 | 16 | 89985918 | C | A | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | c.252C>A | p.D84E | non-syn | rs1805006 | 0.01 | A=86/C=8490;A=8/C=4374;A=94/C=12864 | lod=104:466 | DAMAGING | - | Melanoma, association with | het | 20 |
10 | 16 | 89985940 | G | A | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | c.274G>A | p.V92M | non-syn | rs2228479 | 0.1538 | A=735/G=7833;A=85/G=4299;A=820/G=12132 | lod=90:450 | DAMAGING | - | Ephelides, increased risk, association with | het | 139 |
11 | 16 | 89985940 | G | A | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | c.274G>A | p.V92M | non-syn | rs2228479 | 0.1538 | A=735/G=7833;A=85/G=4299;A=820/G=12132 | lod=90:450 | DAMAGING | - | Ephelides, increased risk, association with | hom | 11 |
12 | 16 | 89985950 | C | T | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | c.284C>T | p.T95M | non-syn | rs34158934 | - | T=5/C=8569;T=3/C=4379;T=8/C=12948 | lod=90:450 | DAMAGING | - | Melanoma ? | het | 3 |
13 | 16 | 89985958 | A | G | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | c.292A>G | p.I98V | non-syn | NA | - | G=0/A=8572;G=1/A=4379;G=1/A=12951 | lod=74:429 | DAMAGING | - | - | het | 2 |
14 | 16 | 89986025 | T | C | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | c.359T>C | p.I120T | non-syn | rs33932559 | 0.0322 | C=2/T=8596;C=0/T=4392;C=2/T=12988 | lod=18:278 | DAMAGING | - | - | het | 4 |
15 | 16 | 89986030 | G | A | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | c.364G>A | p.V122M | non-syn | rs201192930 | - | A=1/G=8599;A=1/G=4391;A=2/G=12990 | lod=198:534 | DAMAGING | - | HGMD | het | 1 |
16 | 16 | 89986091 | G | A | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | c.425G>A | p.R142H | non-syn | rs11547464 | 0.0054 | A=64/G=8536;A=3/G=4393;A=67/G=12929 | lod=204:538 | DAMAGING | - | Red hair, association with | het | 13 |
17 | 16 | 89986111 | G | A | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | c.445G>A | p.A149T | non-syn | NA | - | A=1/G=8599;A=1/G=4395;A=2/G=12994 | lod=204:538 | DAMAGING | - | HGMD | het | 2 |
18 | 16 | 89986117 | C | T | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | c.451C>T | p.R151C | non-syn | rs1805007 | 0.056 | T=655/C=7945;T=75/C=4321;T=730/C=12266 | lod=146:502 | DAMAGING | - | UV-induced skin damage, vulnerability to | het | 98 |
19 | 16 | 89986117 | C | T | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | c.451C>T | p.R151C | non-syn | rs1805007 | 0.056 | T=655/C=7945;T=75/C=4321;T=730/C=12266 | lod=146:502 | DAMAGING | - | UV-induced skin damage, vulnerability to | hom | 4 |
20 | 16 | 89986121 | A | C | ENST00000556922 | ENSG00000198211 | 89985573 | 90002500 | ENSP00000451560 | TUBB3 | 1 | - | c.455A>C | p.Y152S | non-syn | NA | - | - | lod=146:502 | DAMAGING | - | - | het | 1 |