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 | 12 | 32832266 | G | T | ENST00000266481 | ENSG00000087470 | 32832134 | 32898486 | ENSP00000266481 | DNM1L | 1 | DNM1L_HUMAN | - | - | 5'_UTR | rs114505859 | 0.0966 | T=65/G=8535;T=477/G=3929;T=542/G=12464 | - | TOLERATED | - | - | het | 21 |
2 | 12 | 32832266 | G | T | ENST00000358214 | ENSG00000087470 | 32832134 | 32898486 | ENSP00000350948 | DNM1L | 1 | - | - | - | 5'_UTR | rs114505859 | 0.0966 | T=65/G=8535;T=477/G=3929;T=542/G=12464 | - | TOLERATED | - | - | het | 21 |
3 | 12 | 32832266 | G | T | ENST00000381000 | ENSG00000087470 | 32832134 | 32898486 | ENSP00000370388 | DNM1L | 1 | - | - | - | 5'_UTR | rs114505859 | 0.0966 | T=65/G=8535;T=477/G=3929;T=542/G=12464 | - | TOLERATED | - | - | het | 21 |
4 | 12 | 32832266 | G | T | ENST00000413295 | ENSG00000087470 | 32832134 | 32898486 | ENSP00000396030 | DNM1L | 1 | - | - | - | 5'_UTR | rs114505859 | 0.0966 | T=65/G=8535;T=477/G=3929;T=542/G=12464 | - | TOLERATED | - | - | het | 21 |
5 | 12 | 32832266 | G | T | ENST00000414834 | ENSG00000087470 | 32832134 | 32898486 | ENSP00000404160 | DNM1L | 1 | - | - | - | 5'_UTR | rs114505859 | 0.0966 | T=65/G=8535;T=477/G=3929;T=542/G=12464 | - | TOLERATED | - | - | het | 21 |
6 | 12 | 32832266 | G | T | ENST00000434676 | ENSG00000087470 | 32832134 | 32898486 | ENSP00000390090 | DNM1L | 1 | - | - | - | 5'_UTR | rs114505859 | 0.0966 | T=65/G=8535;T=477/G=3929;T=542/G=12464 | - | TOLERATED | - | - | het | 21 |
7 | 12 | 32832266 | G | T | ENST00000452533 | ENSG00000087470 | 32832134 | 32898486 | ENSP00000415131 | DNM1L | 1 | DNM1L_HUMAN | - | - | 5'_UTR | rs114505859 | 0.0966 | T=65/G=8535;T=477/G=3929;T=542/G=12464 | - | TOLERATED | - | - | het | 21 |
8 | 12 | 32832266 | G | T | ENST00000546649 | ENSG00000087470 | 32832134 | 32898486 | ENSP00000448936 | DNM1L | 1 | - | - | - | 5'_UTR | rs114505859 | 0.0966 | T=65/G=8535;T=477/G=3929;T=542/G=12464 | - | TOLERATED | - | - | het | 21 |
9 | 12 | 32832266 | G | T | ENST00000547312 | ENSG00000087470 | 32832134 | 32898486 | ENSP00000448610 | DNM1L | 1 | DNM1L_HUMAN | - | - | 5'_UTR | rs114505859 | 0.0966 | T=65/G=8535;T=477/G=3929;T=542/G=12464 | - | TOLERATED | - | - | het | 21 |
10 | 12 | 32832266 | G | T | ENST00000547932 | ENSG00000087470 | 32832134 | 32898486 | - | DNM1L | 1 | - | c.13G>T | p.G5C | non-syn | rs114505859 | 0.0966 | T=65/G=8535;T=477/G=3929;T=542/G=12464 | - | TOLERATED | - | - | het | 21 |
11 | 12 | 32832266 | G | T | ENST00000548671 | ENSG00000087470 | 32832134 | 32898486 | - | DNM1L | 1 | - | c.32G>T | p.R11L | non-syn | rs114505859 | 0.0966 | T=65/G=8535;T=477/G=3929;T=542/G=12464 | - | TOLERATED | - | - | het | 21 |
12 | 12 | 32832266 | G | T | ENST00000549701 | ENSG00000087470 | 32832134 | 32898486 | ENSP00000450399 | DNM1L | 1 | DNM1L_HUMAN | - | - | 5'_UTR | rs114505859 | 0.0966 | T=65/G=8535;T=477/G=3929;T=542/G=12464 | - | TOLERATED | - | - | het | 21 |
13 | 12 | 32832266 | G | T | ENST00000550011 | ENSG00000087470 | 32832134 | 32898486 | - | DNM1L | 1 | - | c.17G>T | p.R6L | non-syn | rs114505859 | 0.0966 | T=65/G=8535;T=477/G=3929;T=542/G=12464 | - | TOLERATED | - | - | het | 21 |
14 | 12 | 32832266 | G | T | ENST00000550154 | ENSG00000087470 | 32832134 | 32898486 | ENSP00000447013 | DNM1L | 1 | - | - | - | 5'_UTR | rs114505859 | 0.0966 | T=65/G=8535;T=477/G=3929;T=542/G=12464 | - | TOLERATED | - | - | het | 21 |
15 | 12 | 32832266 | G | T | ENST00000551076 | ENSG00000087470 | 32832134 | 32898486 | - | DNM1L | 1 | - | c.17G>T | p.R6L | non-syn | rs114505859 | 0.0966 | T=65/G=8535;T=477/G=3929;T=542/G=12464 | - | TOLERATED | - | - | het | 21 |
16 | 12 | 32832266 | G | T | ENST00000551476 | ENSG00000087470 | 32832134 | 32898486 | ENSP00000447845 | DNM1L | 1 | - | - | - | 5'_UTR | rs114505859 | 0.0966 | T=65/G=8535;T=477/G=3929;T=542/G=12464 | - | TOLERATED | - | - | het | 21 |
17 | 12 | 32832266 | G | T | ENST00000551643 | ENSG00000087470 | 32832134 | 32898486 | ENSP00000450401 | DNM1L | 1 | - | - | - | 5'_UTR | rs114505859 | 0.0966 | T=65/G=8535;T=477/G=3929;T=542/G=12464 | - | TOLERATED | - | - | het | 21 |
18 | 12 | 32832266 | G | T | ENST00000553257 | ENSG00000087470 | 32832134 | 32898486 | ENSP00000449089 | DNM1L | 1 | DNM1L_HUMAN | - | - | 5'_UTR | rs114505859 | 0.0966 | T=65/G=8535;T=477/G=3929;T=542/G=12464 | - | TOLERATED | - | - | het | 21 |
19 | 12 | 32832273 | A | G | ENST00000266481 | ENSG00000087470 | 32832134 | 32898486 | ENSP00000266481 | DNM1L | 1 | DNM1L_HUMAN | - | - | 5'_UTR | rs191084732 | 0.0044 | G=1/A=8597;G=31/A=4373;G=32/A=12970 | - | - | - | - | het | 1 |
20 | 12 | 32832273 | A | G | ENST00000358214 | ENSG00000087470 | 32832134 | 32898486 | ENSP00000350948 | DNM1L | 1 | - | - | - | 5'_UTR | rs191084732 | 0.0044 | G=1/A=8597;G=31/A=4373;G=32/A=12970 | - | - | - | - | het | 1 |