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 | 17 | 39766102 | C | T | ENST00000301653 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000301653 | KRT16 | -1 | K1C16_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 1 |
2 | 17 | 39766504 | A | G | ENST00000301653 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000301653 | KRT16 | -1 | K1C16_HUMAN | - | - | -16bp 3'_splice_site | rs7406899 | 0.9652 | G=8204/A=394;G=4366/A=40;G=12570/A=434 | - | - | - | - | hom | 436 |
3 | 17 | 39766504 | A | G | ENST00000301653 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000301653 | KRT16 | -1 | K1C16_HUMAN | - | - | -16bp 3'_splice_site | rs7406899 | 0.9652 | G=8204/A=394;G=4366/A=40;G=12570/A=434 | - | - | - | - | het | 34 |
4 | 17 | 39766694 | C | G | ENST00000301653 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000301653 | KRT16 | -1 | K1C16_HUMAN | c.1169G>C | p.R390P | non-syn | NA | - | G=1/C=8599;G=0/C=4406;G=1/C=13005 | lod=26:317 | - | D | - | het | 1 |
5 | 17 | 39766694 | C | G | ENST00000593067 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000467124 | KRT16 | -1 | - | c.455G>C | p.R152P | non-syn | NA | - | G=1/C=8599;G=0/C=4406;G=1/C=13005 | lod=26:317 | - | D | - | het | 1 |
6 | 17 | 39766695 | G | A | ENST00000301653 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000301653 | KRT16 | -1 | K1C16_HUMAN | c.1168C>T | p.R390C | non-syn | rs141569849 | - | - | lod=26:317 | - | D | - | het | 3 |
7 | 17 | 39766695 | G | A | ENST00000593067 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000467124 | KRT16 | -1 | - | c.454C>T | p.R152C | non-syn | rs141569849 | - | - | lod=26:317 | - | D | - | het | 3 |
8 | 17 | 39767105 | C | T | ENST00000301653 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000301653 | KRT16 | -1 | K1C16_HUMAN | - | - | +1bp 5'_splice_site | NA | - | - | lod=148:503 | - | - | - | het | 1 |
9 | 17 | 39767105 | C | T | ENST00000593067 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000467124 | KRT16 | -1 | - | - | - | +1bp 5'_splice_site | NA | - | - | lod=148:503 | - | - | - | het | 1 |
10 | 17 | 39767136 | C | T | ENST00000301653 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000301653 | KRT16 | -1 | K1C16_HUMAN | c.1029G>A | p.L343L | syn | NA | - | - | lod=80:437 | - | - | - | het | 1 |
11 | 17 | 39767136 | C | T | ENST00000593067 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000467124 | KRT16 | -1 | - | c.315G>A | p.L105L | syn | NA | - | - | lod=80:437 | - | - | - | het | 1 |
12 | 17 | 39767329 | G | A | ENST00000301653 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000301653 | KRT16 | -1 | K1C16_HUMAN | c.925C>T | p.L309L | syn | rs142668383 | 0.001 | A=7/G=8593;A=0/G=4406;A=7/G=12999 | lod=61:409 | - | - | - | het | 2 |
13 | 17 | 39767329 | G | A | ENST00000593067 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000467124 | KRT16 | -1 | - | c.211C>T | p.L71L | syn | rs142668383 | 0.001 | A=7/G=8593;A=0/G=4406;A=7/G=12999 | lod=61:409 | - | - | - | het | 2 |
14 | 17 | 39767367 | A | G | ENST00000301653 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000301653 | KRT16 | -1 | K1C16_HUMAN | c.887T>C | p.M296T | non-syn | rs145649029 | 0.00193 | G=5/A=8595;G=0/A=4406;G=5/A=13001 | - | - | D | - | het | 3 |
15 | 17 | 39767367 | A | G | ENST00000593067 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000467124 | KRT16 | -1 | - | c.173T>C | p.M58T | non-syn | rs145649029 | 0.00193 | G=5/A=8595;G=0/A=4406;G=5/A=13001 | - | - | D | - | het | 3 |
16 | 17 | 39767594 | T | C | ENST00000301653 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000301653 | KRT16 | -1 | K1C16_HUMAN | - | - | +3bp 5'_splice_site | rs113890856 | 0.0179 | C=0/T=8600;C=31/T=4375;C=31/T=12975 | lod=65:415 | - | - | - | het | 1 |
17 | 17 | 39767594 | T | C | ENST00000593067 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000467124 | KRT16 | -1 | - | - | - | +3bp 5'_splice_site | rs113890856 | 0.0179 | C=0/T=8600;C=31/T=4375;C=31/T=12975 | lod=65:415 | - | - | - | het | 1 |
18 | 17 | 39767706 | T | C | ENST00000301653 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000301653 | KRT16 | -1 | K1C16_HUMAN | c.662A>G | p.N221S | non-syn | NA | - | - | lod=43:371 | - | P | - | het | 1 |
19 | 17 | 39767706 | T | C | ENST00000593067 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000467124 | KRT16 | -1 | - | - | - | 5'_UTR | NA | - | - | lod=43:371 | - | P | - | het | 1 |
20 | 17 | 39767724 | G | C | ENST00000301653 | ENSG00000186832 | 39766030 | 39772151 | ENSP00000301653 | KRT16 | -1 | K1C16_HUMAN | c.644C>G | p.T215S | non-syn | rs147423442 | - | C=50/G=8550;C=6/G=4400;C=56/G=12950 | - | - | B | - | het | 18 |