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 |
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1 | 1 | 46713430 | C | A | ENST00000371975 | ENSG00000085999 | 46713360 | 46744145 | ENSP00000361043 | RAD54L | 1 | RAD54_HUMAN | - | - | 5'_UTR | NA | - | - | lod=61:409 | - | - | - | het | 2 |
2 | 1 | 46713430 | C | A | ENST00000442598 | ENSG00000085999 | 46713360 | 46744145 | ENSP00000396113 | RAD54L | 1 | RAD54_HUMAN | - | - | +12bp 5'_splice_site | NA | - | - | lod=61:409 | - | - | - | het | 2 |
3 | 1 | 46713430 | C | A | ENST00000463715 | ENSG00000085999 | 46713360 | 46744145 | - | RAD54L | 1 | - | - | - | +12bp 5'_splice_site | NA | - | - | lod=61:409 | - | - | - | het | 2 |
4 | 1 | 46713430 | C | A | ENST00000493985 | ENSG00000085999 | 46713360 | 46744145 | - | RAD54L | 1 | - | - | - | +12bp 5'_splice_site | NA | - | - | lod=61:409 | - | - | - | het | 2 |
5 | 1 | 46713478 | T | G | ENST00000371975 | ENSG00000085999 | 46713360 | 46744145 | ENSP00000361043 | RAD54L | 1 | RAD54_HUMAN | - | - | 5'_UTR | rs10437093 | 0.0183 | - | - | - | - | - | het | 3 |
6 | 1 | 46713478 | T | G | ENST00000469835 | ENSG00000085999 | 46713360 | 46744145 | - | RAD54L | 1 | - | - | - | +5bp 5'_splice_site | rs10437093 | 0.0183 | - | - | - | - | - | het | 3 |
7 | 1 | 46713543 | T | C | ENST00000371975 | ENSG00000085999 | 46713360 | 46744145 | ENSP00000361043 | RAD54L | 1 | RAD54_HUMAN | - | - | 5'_UTR | rs10437094 | 0.0149 | - | - | - | - | - | het | 3 |
8 | 1 | 46713681 | C | T | ENST00000371975 | ENSG00000085999 | 46713360 | 46744145 | ENSP00000361043 | RAD54L | 1 | RAD54_HUMAN | - | - | 5'_UTR | rs4506412 | 0.0364 | - | - | - | - | - | het | 1 |
9 | 1 | 46713956 | G | T | ENST00000371975 | ENSG00000085999 | 46713360 | 46744145 | ENSP00000361043 | RAD54L | 1 | RAD54_HUMAN | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 2 |
10 | 1 | 46713966 | A | G | ENST00000371975 | ENSG00000085999 | 46713360 | 46744145 | ENSP00000361043 | RAD54L | 1 | RAD54_HUMAN | - | - | 5'_UTR | rs17102080 | 0.0533 | - | - | - | - | - | het | 28 |
11 | 1 | 46714074 | C | G | ENST00000371975 | ENSG00000085999 | 46713360 | 46744145 | ENSP00000361043 | RAD54L | 1 | RAD54_HUMAN | - | - | 5'_UTR | rs202082128 | - | G=12/C=8588;G=1/C=4405;G=13/C=12993 | lod=52:391 | - | - | - | het | 2 |
12 | 1 | 46714074 | C | G | ENST00000442598 | ENSG00000085999 | 46713360 | 46744145 | ENSP00000396113 | RAD54L | 1 | RAD54_HUMAN | - | - | 5'_UTR | rs202082128 | - | G=12/C=8588;G=1/C=4405;G=13/C=12993 | lod=52:391 | - | - | - | het | 2 |
13 | 1 | 46714074 | C | G | ENST00000469835 | ENSG00000085999 | 46713360 | 46744145 | - | RAD54L | 1 | - | c.37C>G | p.Q13E | non-syn | rs202082128 | - | G=12/C=8588;G=1/C=4405;G=13/C=12993 | lod=52:391 | - | - | - | het | 2 |
14 | 1 | 46714242 | A | G | ENST00000371975 | ENSG00000085999 | 46713360 | 46744145 | ENSP00000361043 | RAD54L | 1 | RAD54_HUMAN | c.62A>G | p.D21G | non-syn | rs28363192 | 0.00283 | G=134/A=8466;G=17/A=4389;G=151/A=12855 | lod=66:417 | DAMAGING | B | - | het | 34 |
15 | 1 | 46714242 | A | G | ENST00000371975 | ENSG00000085999 | 46713360 | 46744145 | ENSP00000361043 | RAD54L | 1 | RAD54_HUMAN | c.62A>G | p.D21G | non-syn | rs28363192 | 0.00283 | G=134/A=8466;G=17/A=4389;G=151/A=12855 | lod=66:417 | DAMAGING | B | - | hom | 1 |
16 | 1 | 46714242 | A | G | ENST00000442598 | ENSG00000085999 | 46713360 | 46744145 | ENSP00000396113 | RAD54L | 1 | RAD54_HUMAN | c.62A>G | p.D21G | non-syn | rs28363192 | 0.00283 | G=134/A=8466;G=17/A=4389;G=151/A=12855 | lod=66:417 | DAMAGING | B | - | het | 34 |
17 | 1 | 46714242 | A | G | ENST00000442598 | ENSG00000085999 | 46713360 | 46744145 | ENSP00000396113 | RAD54L | 1 | RAD54_HUMAN | c.62A>G | p.D21G | non-syn | rs28363192 | 0.00283 | G=134/A=8466;G=17/A=4389;G=151/A=12855 | lod=66:417 | DAMAGING | B | - | hom | 1 |
18 | 1 | 46714242 | A | G | ENST00000463715 | ENSG00000085999 | 46713360 | 46744145 | - | RAD54L | 1 | - | c.118A>G | p.M40V | non-syn | rs28363192 | 0.00283 | G=134/A=8466;G=17/A=4389;G=151/A=12855 | lod=66:417 | DAMAGING | B | - | het | 34 |
19 | 1 | 46714242 | A | G | ENST00000463715 | ENSG00000085999 | 46713360 | 46744145 | - | RAD54L | 1 | - | c.118A>G | p.M40V | non-syn | rs28363192 | 0.00283 | G=134/A=8466;G=17/A=4389;G=151/A=12855 | lod=66:417 | DAMAGING | B | - | hom | 1 |
20 | 1 | 46714242 | A | G | ENST00000469835 | ENSG00000085999 | 46713360 | 46744145 | - | RAD54L | 1 | - | c.102A>G | p.*34W | non-syn | rs28363192 | 0.00283 | G=134/A=8466;G=17/A=4389;G=151/A=12855 | lod=66:417 | DAMAGING | B | - | het | 34 |