| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.17497089_17500424del | CA645293918 | BFSP1 | c.736-1384_957-66del c.319-1384_540-66del c.361-1384_582-66del c.403-1384_624-66del c.628-1384_849-66del | ClinVar |
| 20 | g.17498864A>C | CA408317243 | BFSP1 | c.912T>G (p.Asn304Lys) c.495T>G (p.Asn165Lys) c.537T>G (p.Asn179Lys) c.579T>G (p.Asn193Lys) c.804T>G (p.Asn268Lys) | gnomAD v4 |
| 20 | g.17498864A>G | CA509810155 | BFSP1 | c.912T>C (p.Asn304=) c.495T>C (p.Asn165=) c.537T>C (p.Asn179=) c.579T>C (p.Asn193=) c.804T>C (p.Asn268=) | |
| 20 | g.17498864A>T | CA408317244 | BFSP1 | c.912T>A (p.Asn304Lys) c.495T>A (p.Asn165Lys) c.537T>A (p.Asn179Lys) c.579T>A (p.Asn193Lys) c.804T>A (p.Asn268Lys) | |
| 20 | g.17498865T>A | CA408317245 | BFSP1 | c.911A>T (p.Asn304Ile) c.494A>T (p.Asn165Ile) c.536A>T (p.Asn179Ile) c.578A>T (p.Asn193Ile) c.803A>T (p.Asn268Ile) | |
| 20 | g.17498865T>C | CA408317246 | BFSP1 | c.911A>G (p.Asn304Ser) c.494A>G (p.Asn165Ser) c.536A>G (p.Asn179Ser) c.578A>G (p.Asn193Ser) c.803A>G (p.Asn268Ser) | |
| 20 | g.17498865T>G | CA408317247 | BFSP1 | c.911A>C (p.Asn304Thr) c.494A>C (p.Asn165Thr) c.536A>C (p.Asn179Thr) c.578A>C (p.Asn193Thr) c.803A>C (p.Asn268Thr) | |
| 20 | g.17498866T>A | CA408317248 | BFSP1 | c.910A>T (p.Asn304Tyr) c.493A>T (p.Asn165Tyr) c.535A>T (p.Asn179Tyr) c.577A>T (p.Asn193Tyr) c.802A>T (p.Asn268Tyr) | |
| 20 | g.17498866T>C | CA9772177 | BFSP1 | c.910A>G (p.Asn304Asp) c.493A>G (p.Asn165Asp) c.535A>G (p.Asn179Asp) c.577A>G (p.Asn193Asp) c.802A>G (p.Asn268Asp) | dbSNP ExAC gnomAD v2 |
| 20 | g.17498866T>G | CA408317249 | BFSP1 | c.910A>C (p.Asn304His) c.493A>C (p.Asn165His) c.535A>C (p.Asn179His) c.577A>C (p.Asn193His) c.802A>C (p.Asn268His) | |
| 20 | g.17498866T= | CA2353084834 | BFSP1 | c.910A= (p.Asn304=) c.493A= (p.Asn165=) c.535A= (p.Asn179=) c.577A= (p.Asn193=) c.802A= (p.Asn268=) | |
| 20 | g.17498867C>A | CA408317250 | BFSP1 | c.909G>T (p.Lys303Asn) c.492G>T (p.Lys164Asn) c.534G>T (p.Lys178Asn) c.576G>T (p.Lys192Asn) c.801G>T (p.Lys267Asn) | COSMIC COSMIC |
| 20 | g.17498867C>G | CA408317251 | BFSP1 | c.909G>C (p.Lys303Asn) c.492G>C (p.Lys164Asn) c.534G>C (p.Lys178Asn) c.576G>C (p.Lys192Asn) c.801G>C (p.Lys267Asn) | |
| 20 | g.17498867C>T | CA509810158 | BFSP1 | c.909G>A (p.Lys303=) c.492G>A (p.Lys164=) c.534G>A (p.Lys178=) c.576G>A (p.Lys192=) c.801G>A (p.Lys267=) | |
| 20 | g.17498868T>A | CA408317252 | BFSP1 | c.908A>T (p.Lys303Met) c.491A>T (p.Lys164Met) c.533A>T (p.Lys178Met) c.575A>T (p.Lys192Met) c.800A>T (p.Lys267Met) | |
| 20 | g.17498868T>C | CA408317253 | BFSP1 | c.908A>G (p.Lys303Arg) c.491A>G (p.Lys164Arg) c.533A>G (p.Lys178Arg) c.575A>G (p.Lys192Arg) c.800A>G (p.Lys267Arg) | |
| 20 | g.17498868T>G | CA408317254 | BFSP1 | c.908A>C (p.Lys303Thr) c.491A>C (p.Lys164Thr) c.533A>C (p.Lys178Thr) c.575A>C (p.Lys192Thr) c.800A>C (p.Lys267Thr) | |
| 20 | g.17498869T>A | CA408317255 | BFSP1 | c.907A>T (p.Lys303Ter) c.490A>T (p.Lys164Ter) c.532A>T (p.Lys178Ter) c.574A>T (p.Lys192Ter) c.799A>T (p.Lys267Ter) | |
| 20 | g.17498869T>C | CA408317256 | BFSP1 | c.907A>G (p.Lys303Glu) c.490A>G (p.Lys164Glu) c.532A>G (p.Lys178Glu) c.574A>G (p.Lys192Glu) c.799A>G (p.Lys267Glu) | dbSNP |
| 20 | g.17498869T>G | CA408317257 | BFSP1 | c.907A>C (p.Lys303Gln) c.490A>C (p.Lys164Gln) c.532A>C (p.Lys178Gln) c.574A>C (p.Lys192Gln) c.799A>C (p.Lys267Gln) | |
| 20 | g.17498869T= | CA2353084835 | BFSP1 | c.907A= (p.Lys303=) c.490A= (p.Lys164=) c.532A= (p.Lys178=) c.574A= (p.Lys192=) c.799A= (p.Lys267=) | |
| 20 | g.17498870C>A | CA509810160 | BFSP1 | c.906G>T (p.Leu302=) c.489G>T (p.Leu163=) c.531G>T (p.Leu177=) c.573G>T (p.Leu191=) c.798G>T (p.Leu266=) | |
| 20 | g.17498870C>G | CA509810161 | BFSP1 | c.906G>C (p.Leu302=) c.489G>C (p.Leu163=) c.531G>C (p.Leu177=) c.573G>C (p.Leu191=) c.798G>C (p.Leu266=) | |
| 20 | g.17498870C>T | CA509810162 | BFSP1 | c.906G>A (p.Leu302=) c.489G>A (p.Leu163=) c.531G>A (p.Leu177=) c.573G>A (p.Leu191=) c.798G>A (p.Leu266=) | |
| 20 | g.17498871A>C | CA408317258 | BFSP1 | c.905T>G (p.Leu302Arg) c.488T>G (p.Leu163Arg) c.530T>G (p.Leu177Arg) c.572T>G (p.Leu191Arg) c.797T>G (p.Leu266Arg) | |
| 20 | g.17498871A>G | CA408317259 | BFSP1 | c.905T>C (p.Leu302Pro) c.488T>C (p.Leu163Pro) c.530T>C (p.Leu177Pro) c.572T>C (p.Leu191Pro) c.797T>C (p.Leu266Pro) | |
| 20 | g.17498871A>T | CA408317260 | BFSP1 | c.905T>A (p.Leu302Gln) c.488T>A (p.Leu163Gln) c.530T>A (p.Leu177Gln) c.572T>A (p.Leu191Gln) c.797T>A (p.Leu266Gln) | |
| 20 | g.17498872G>A | CA509810163 | BFSP1 | c.904C>T (p.Leu302=) c.487C>T (p.Leu163=) c.529C>T (p.Leu177=) c.571C>T (p.Leu191=) c.796C>T (p.Leu266=) | gnomAD v4 |
| 20 | g.17498872G>C | CA408317261 | BFSP1 | c.904C>G (p.Leu302Val) c.487C>G (p.Leu163Val) c.529C>G (p.Leu177Val) c.571C>G (p.Leu191Val) c.796C>G (p.Leu266Val) | |
| 20 | g.17498872G= | CA2353084836 | BFSP1 | c.904C= (p.Leu302=) c.487C= (p.Leu163=) c.529C= (p.Leu177=) c.571C= (p.Leu191=) c.796C= (p.Leu266=) | |
| 20 | g.17498872G>T | CA408317262 | BFSP1 | c.904C>A (p.Leu302Met) c.487C>A (p.Leu163Met) c.529C>A (p.Leu177Met) c.571C>A (p.Leu191Met) c.796C>A (p.Leu266Met) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.17498873G>A | CA509810164 | BFSP1 | c.903C>T (p.Thr301=) c.486C>T (p.Thr162=) c.528C>T (p.Thr176=) c.570C>T (p.Thr190=) c.795C>T (p.Thr265=) | |
| 20 | g.17498873G>C | CA509810167 | BFSP1 | c.903C>G (p.Thr301=) c.486C>G (p.Thr162=) c.528C>G (p.Thr176=) c.570C>G (p.Thr190=) c.795C>G (p.Thr265=) | |
| 20 | g.17498873G>T | CA509810166 | BFSP1 | c.903C>A (p.Thr301=) c.486C>A (p.Thr162=) c.528C>A (p.Thr176=) c.570C>A (p.Thr190=) c.795C>A (p.Thr265=) | |
| 20 | g.17498874G>A | CA408317263 | BFSP1 | c.902C>T (p.Thr301Ile) c.485C>T (p.Thr162Ile) c.527C>T (p.Thr176Ile) c.569C>T (p.Thr190Ile) c.794C>T (p.Thr265Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.17498874G>C | CA408317264 | BFSP1 | c.902C>G (p.Thr301Ser) c.485C>G (p.Thr162Ser) c.527C>G (p.Thr176Ser) c.569C>G (p.Thr190Ser) c.794C>G (p.Thr265Ser) | |
| 20 | g.17498874G= | CA2353084837 | BFSP1 | c.902C= (p.Thr301=) c.485C= (p.Thr162=) c.527C= (p.Thr176=) c.569C= (p.Thr190=) c.794C= (p.Thr265=) | |
| 20 | g.17498874G>T | CA9772178 | BFSP1 | c.902C>A (p.Thr301Asn) c.485C>A (p.Thr162Asn) c.527C>A (p.Thr176Asn) c.569C>A (p.Thr190Asn) c.794C>A (p.Thr265Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.17498875T>A | CA408317265 | BFSP1 | c.901A>T (p.Thr301Ser) c.484A>T (p.Thr162Ser) c.526A>T (p.Thr176Ser) c.568A>T (p.Thr190Ser) c.793A>T (p.Thr265Ser) | |
| 20 | g.17498875T>C | CA408317266 | BFSP1 | c.901A>G (p.Thr301Ala) c.484A>G (p.Thr162Ala) c.526A>G (p.Thr176Ala) c.568A>G (p.Thr190Ala) c.793A>G (p.Thr265Ala) | |
| 20 | g.17498875T>G | CA408317267 | BFSP1 | c.901A>C (p.Thr301Pro) c.484A>C (p.Thr162Pro) c.526A>C (p.Thr176Pro) c.568A>C (p.Thr190Pro) c.793A>C (p.Thr265Pro) | |
| 20 | g.17498876T>A | CA408317268 | BFSP1 | c.900A>T (p.Gln300His) c.483A>T (p.Gln161His) c.525A>T (p.Gln175His) c.567A>T (p.Gln189His) c.792A>T (p.Gln264His) | |
| 20 | g.17498876T>C | CA509810169 | BFSP1 | c.900A>G (p.Gln300=) c.483A>G (p.Gln161=) c.525A>G (p.Gln175=) c.567A>G (p.Gln189=) c.792A>G (p.Gln264=) | gnomAD v4 |
| 20 | g.17498876T>G | CA408317269 | BFSP1 | c.900A>C (p.Gln300His) c.483A>C (p.Gln161His) c.525A>C (p.Gln175His) c.567A>C (p.Gln189His) c.792A>C (p.Gln264His) | |
| 20 | g.17498877T>A | CA408317270 | BFSP1 | c.899A>T (p.Gln300Leu) c.482A>T (p.Gln161Leu) c.524A>T (p.Gln175Leu) c.566A>T (p.Gln189Leu) c.791A>T (p.Gln264Leu) | |
| 20 | g.17498877T>C | CA408317271 | BFSP1 | c.899A>G (p.Gln300Arg) c.482A>G (p.Gln161Arg) c.524A>G (p.Gln175Arg) c.566A>G (p.Gln189Arg) c.791A>G (p.Gln264Arg) | |
| 20 | g.17498877T>G | CA408317272 | BFSP1 | c.899A>C (p.Gln300Pro) c.482A>C (p.Gln161Pro) c.524A>C (p.Gln175Pro) c.566A>C (p.Gln189Pro) c.791A>C (p.Gln264Pro) | |
| 20 | g.17498878G>A | CA408317273 | BFSP1 | c.898C>T (p.Gln300Ter) c.481C>T (p.Gln161Ter) c.523C>T (p.Gln175Ter) c.565C>T (p.Gln189Ter) c.790C>T (p.Gln264Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.17498878G>C | CA408317274 | BFSP1 | c.898C>G (p.Gln300Glu) c.481C>G (p.Gln161Glu) c.523C>G (p.Gln175Glu) c.565C>G (p.Gln189Glu) c.790C>G (p.Gln264Glu) | gnomAD v4 |
| 20 | g.17498878G= | CA2353084838 | BFSP1 | c.898C= (p.Gln300=) c.481C= (p.Gln161=) c.523C= (p.Gln175=) c.565C= (p.Gln189=) c.790C= (p.Gln264=) |