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.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=) | |
20 | g.17498878G>T | CA408317275 | BFSP1 | c.898C>A (p.Gln300Lys) c.481C>A (p.Gln161Lys) c.523C>A (p.Gln175Lys) c.565C>A (p.Gln189Lys) c.790C>A (p.Gln264Lys) | |
20 | g.17498879C>A | CA408317277 | BFSP1 | c.897G>T (p.Gln299His) c.480G>T (p.Gln160His) c.522G>T (p.Gln174His) c.564G>T (p.Gln188His) c.789G>T (p.Gln263His) | |
20 | g.17498879C>G | CA408317276 | BFSP1 | c.897G>C (p.Gln299His) c.480G>C (p.Gln160His) c.522G>C (p.Gln174His) c.564G>C (p.Gln188His) c.789G>C (p.Gln263His) | |
20 | g.17498879C>T | CA509810172 | BFSP1 | c.897G>A (p.Gln299=) c.480G>A (p.Gln160=) c.522G>A (p.Gln174=) c.564G>A (p.Gln188=) c.789G>A (p.Gln263=) | |
20 | g.17498880T>A | CA408317278 | BFSP1 | c.896A>T (p.Gln299Leu) c.479A>T (p.Gln160Leu) c.521A>T (p.Gln174Leu) c.563A>T (p.Gln188Leu) c.788A>T (p.Gln263Leu) | COSMIC COSMIC |
20 | g.17498880T>C | CA9772179 | BFSP1 | c.896A>G (p.Gln299Arg) c.479A>G (p.Gln160Arg) c.521A>G (p.Gln174Arg) c.563A>G (p.Gln188Arg) c.788A>G (p.Gln263Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17498880T>G | CA312242223 | BFSP1 | c.896A>C (p.Gln299Pro) c.479A>C (p.Gln160Pro) c.521A>C (p.Gln174Pro) c.563A>C (p.Gln188Pro) c.788A>C (p.Gln263Pro) | dbSNP |
20 | g.17498880T= | CA2353084839 | BFSP1 | c.896A= (p.Gln299=) c.479A= (p.Gln160=) c.521A= (p.Gln174=) c.563A= (p.Gln188=) c.788A= (p.Gln263=) | |
20 | g.17498881G>A | CA408317279 | BFSP1 | c.895C>T (p.Gln299Ter) c.478C>T (p.Gln160Ter) c.520C>T (p.Gln174Ter) c.562C>T (p.Gln188Ter) c.787C>T (p.Gln263Ter) | COSMIC COSMIC |
20 | g.17498881G>C | CA408317281 | BFSP1 | c.895C>G (p.Gln299Glu) c.478C>G (p.Gln160Glu) c.520C>G (p.Gln174Glu) c.562C>G (p.Gln188Glu) c.787C>G (p.Gln263Glu) | |
20 | g.17498881G>T | CA408317280 | BFSP1 | c.895C>A (p.Gln299Lys) c.478C>A (p.Gln160Lys) c.520C>A (p.Gln174Lys) c.562C>A (p.Gln188Lys) c.787C>A (p.Gln263Lys) | COSMIC COSMIC |
20 | g.17498882G>A | CA509810179 | BFSP1 | c.894C>T (p.Ala298=) c.477C>T (p.Ala159=) c.519C>T (p.Ala173=) c.561C>T (p.Ala187=) c.786C>T (p.Ala262=) | |
20 | g.17498882G>C | CA509810177 | BFSP1 | c.894C>G (p.Ala298=) c.477C>G (p.Ala159=) c.519C>G (p.Ala173=) c.561C>G (p.Ala187=) c.786C>G (p.Ala262=) | |
20 | g.17498882G>T | CA509810178 | BFSP1 | c.894C>A (p.Ala298=) c.477C>A (p.Ala159=) c.519C>A (p.Ala173=) c.561C>A (p.Ala187=) c.786C>A (p.Ala262=) | |
20 | g.17498883G>A | CA408317282 | BFSP1 | c.893C>T (p.Ala298Val) c.476C>T (p.Ala159Val) c.518C>T (p.Ala173Val) c.560C>T (p.Ala187Val) c.785C>T (p.Ala262Val) | |
20 | g.17498883G>C | CA408317283 | BFSP1 | c.893C>G (p.Ala298Gly) c.476C>G (p.Ala159Gly) c.518C>G (p.Ala173Gly) c.560C>G (p.Ala187Gly) c.785C>G (p.Ala262Gly) | |
20 | g.17498883G>T | CA408317284 | BFSP1 | c.893C>A (p.Ala298Asp) c.476C>A (p.Ala159Asp) c.518C>A (p.Ala173Asp) c.560C>A (p.Ala187Asp) c.785C>A (p.Ala262Asp) | |
20 | g.17498884C>A | CA408317285 | BFSP1 | c.892G>T (p.Ala298Ser) c.475G>T (p.Ala159Ser) c.517G>T (p.Ala173Ser) c.559G>T (p.Ala187Ser) c.784G>T (p.Ala262Ser) | dbSNP |
20 | g.17498884C= | CA2353084840 | BFSP1 | c.892G= (p.Ala298=) c.475G= (p.Ala159=) c.517G= (p.Ala173=) c.559G= (p.Ala187=) c.784G= (p.Ala262=) | |
20 | g.17498884C>G | CA408317286 | BFSP1 | c.892G>C (p.Ala298Pro) c.475G>C (p.Ala159Pro) c.517G>C (p.Ala173Pro) c.559G>C (p.Ala187Pro) c.784G>C (p.Ala262Pro) | |
20 | g.17498884C>T | CA9772180 | BFSP1 | c.892G>A (p.Ala298Thr) c.475G>A (p.Ala159Thr) c.517G>A (p.Ala173Thr) c.559G>A (p.Ala187Thr) c.784G>A (p.Ala262Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.17498885G>A | CA9772181 | BFSP1 | c.891C>T (p.Val297=) c.474C>T (p.Val158=) c.516C>T (p.Val172=) c.558C>T (p.Val186=) c.783C>T (p.Val261=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.17498885G>C | CA509810183 | BFSP1 | c.891C>G (p.Val297=) c.474C>G (p.Val158=) c.516C>G (p.Val172=) c.558C>G (p.Val186=) c.783C>G (p.Val261=) | |
20 | g.17498885G= | CA2353084841 | BFSP1 | c.891C= (p.Val297=) c.474C= (p.Val158=) c.516C= (p.Val172=) c.558C= (p.Val186=) c.783C= (p.Val261=) | |
20 | g.17498885G>T | CA509810184 | BFSP1 | c.891C>A (p.Val297=) c.474C>A (p.Val158=) c.516C>A (p.Val172=) c.558C>A (p.Val186=) c.783C>A (p.Val261=) | gnomAD v4 |
20 | g.17498886A= | CA2353084842 | BFSP1 | c.890T= (p.Val297=) c.473T= (p.Val158=) c.515T= (p.Val172=) c.557T= (p.Val186=) c.782T= (p.Val261=) | |
20 | g.17498886A>C | CA408317287 | BFSP1 | c.890T>G (p.Val297Gly) c.473T>G (p.Val158Gly) c.515T>G (p.Val172Gly) c.557T>G (p.Val186Gly) c.782T>G (p.Val261Gly) | dbSNP |
20 | g.17498886A>G | CA9772182 | BFSP1 | c.890T>C (p.Val297Ala) c.473T>C (p.Val158Ala) c.515T>C (p.Val172Ala) c.557T>C (p.Val186Ala) c.782T>C (p.Val261Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.17498886A>T | CA408317288 | BFSP1 | c.890T>A (p.Val297Asp) c.473T>A (p.Val158Asp) c.515T>A (p.Val172Asp) c.557T>A (p.Val186Asp) c.782T>A (p.Val261Asp) | |
20 | g.17498887C>A | CA408317289 | BFSP1 | c.889G>T (p.Val297Phe) c.472G>T (p.Val158Phe) c.514G>T (p.Val172Phe) c.556G>T (p.Val186Phe) c.781G>T (p.Val261Phe) | |
20 | g.17498887C>G | CA408317290 | BFSP1 | c.889G>C (p.Val297Leu) c.472G>C (p.Val158Leu) c.514G>C (p.Val172Leu) c.556G>C (p.Val186Leu) c.781G>C (p.Val261Leu) | |
20 | g.17498887C>T | CA408317291 | BFSP1 | c.889G>A (p.Val297Ile) c.472G>A (p.Val158Ile) c.514G>A (p.Val172Ile) c.556G>A (p.Val186Ile) c.781G>A (p.Val261Ile) | |
20 | g.17498888C>A | CA509810187 | BFSP1 | c.888G>T (p.Ala296=) c.471G>T (p.Ala157=) c.513G>T (p.Ala171=) c.555G>T (p.Ala185=) c.780G>T (p.Ala260=) | |
20 | g.17498888C= | CA2353084843 | BFSP1 | c.888G= (p.Ala296=) c.471G= (p.Ala157=) c.513G= (p.Ala171=) c.555G= (p.Ala185=) c.780G= (p.Ala260=) | |
20 | g.17498888C>G | CA509810186 | BFSP1 | c.888G>C (p.Ala296=) c.471G>C (p.Ala157=) c.513G>C (p.Ala171=) c.555G>C (p.Ala185=) c.780G>C (p.Ala260=) | |
20 | g.17498888C>T | CA9772183 | BFSP1 | c.888G>A (p.Ala296=) c.471G>A (p.Ala157=) c.513G>A (p.Ala171=) c.555G>A (p.Ala185=) c.780G>A (p.Ala260=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17498889G>A | CA9772184 | BFSP1 | c.887C>T (p.Ala296Val) c.470C>T (p.Ala157Val) c.512C>T (p.Ala171Val) c.554C>T (p.Ala185Val) c.779C>T (p.Ala260Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17498889G>C | CA408317293 | BFSP1 | c.887C>G (p.Ala296Gly) c.470C>G (p.Ala157Gly) c.512C>G (p.Ala171Gly) c.554C>G (p.Ala185Gly) c.779C>G (p.Ala260Gly) | |
20 | g.17498889G= | CA2353084844 | BFSP1 | c.887C= (p.Ala296=) c.470C= (p.Ala157=) c.512C= (p.Ala171=) c.554C= (p.Ala185=) c.779C= (p.Ala260=) | |
20 | g.17498889G>T | CA408317292 | BFSP1 | c.887C>A (p.Ala296Glu) c.470C>A (p.Ala157Glu) c.512C>A (p.Ala171Glu) c.554C>A (p.Ala185Glu) c.779C>A (p.Ala260Glu) | |
20 | g.17498890C>A | CA408317294 | BFSP1 | c.886G>T (p.Ala296Ser) c.469G>T (p.Ala157Ser) c.511G>T (p.Ala171Ser) c.553G>T (p.Ala185Ser) c.778G>T (p.Ala260Ser) | |
20 | g.17498890C>G | CA408317295 | BFSP1 | c.886G>C (p.Ala296Pro) c.469G>C (p.Ala157Pro) c.511G>C (p.Ala171Pro) c.553G>C (p.Ala185Pro) c.778G>C (p.Ala260Pro) | |
20 | g.17498890C>T | CA408317296 | BFSP1 | c.886G>A (p.Ala296Thr) c.469G>A (p.Ala157Thr) c.511G>A (p.Ala171Thr) c.553G>A (p.Ala185Thr) c.778G>A (p.Ala260Thr) | |
20 | g.17498891C>A | CA509810189 | BFSP1 | c.885G>T (p.Leu295=) c.468G>T (p.Leu156=) c.510G>T (p.Leu170=) c.552G>T (p.Leu184=) c.777G>T (p.Leu259=) | |
20 | g.17498891C>G | CA509810190 | BFSP1 | c.885G>C (p.Leu295=) c.468G>C (p.Leu156=) c.510G>C (p.Leu170=) c.552G>C (p.Leu184=) c.777G>C (p.Leu259=) | |
20 | g.17498891C>T | CA509810191 | BFSP1 | c.885G>A (p.Leu295=) c.468G>A (p.Leu156=) c.510G>A (p.Leu170=) c.552G>A (p.Leu184=) c.777G>A (p.Leu259=) | |
20 | g.17498892A>C | CA408317297 | BFSP1 | c.884T>G (p.Leu295Arg) c.467T>G (p.Leu156Arg) c.509T>G (p.Leu170Arg) c.551T>G (p.Leu184Arg) c.776T>G (p.Leu259Arg) | |
20 | g.17498892A>G | CA408317298 | BFSP1 | c.884T>C (p.Leu295Pro) c.467T>C (p.Leu156Pro) c.509T>C (p.Leu170Pro) c.551T>C (p.Leu184Pro) c.776T>C (p.Leu259Pro) | |
20 | g.17498892A>T | CA408317299 | BFSP1 | c.884T>A (p.Leu295Gln) c.467T>A (p.Leu156Gln) c.509T>A (p.Leu170Gln) c.551T>A (p.Leu184Gln) c.776T>A (p.Leu259Gln) | |
20 | g.17498893G>A | CA509810193 | BFSP1 | c.883C>T (p.Leu295=) c.466C>T (p.Leu156=) c.508C>T (p.Leu170=) c.550C>T (p.Leu184=) c.775C>T (p.Leu259=) | |
20 | g.17498893G>C | CA408317300 | BFSP1 | c.883C>G (p.Leu295Val) c.466C>G (p.Leu156Val) c.508C>G (p.Leu170Val) c.550C>G (p.Leu184Val) c.775C>G (p.Leu259Val) | |
20 | g.17498893G>T | CA408317301 | BFSP1 | c.883C>A (p.Leu295Met) c.466C>A (p.Leu156Met) c.508C>A (p.Leu170Met) c.550C>A (p.Leu184Met) c.775C>A (p.Leu259Met) | |
20 | g.17498894C>A | CA408317302 | BFSP1 | c.882G>T (p.Gln294His) c.465G>T (p.Gln155His) c.507G>T (p.Gln169His) c.549G>T (p.Gln183His) c.774G>T (p.Gln258His) | |
20 | g.17498894C>G | CA408317303 | BFSP1 | c.882G>C (p.Gln294His) c.465G>C (p.Gln155His) c.507G>C (p.Gln169His) c.549G>C (p.Gln183His) c.774G>C (p.Gln258His) | |
20 | g.17498894C>T | CA509810195 | BFSP1 | c.882G>A (p.Gln294=) c.465G>A (p.Gln155=) c.507G>A (p.Gln169=) c.549G>A (p.Gln183=) c.774G>A (p.Gln258=) | |
20 | g.17498895T>A | CA408317304 | BFSP1 | c.881A>T (p.Gln294Leu) c.464A>T (p.Gln155Leu) c.506A>T (p.Gln169Leu) c.548A>T (p.Gln183Leu) c.773A>T (p.Gln258Leu) | |
20 | g.17498895T>C | CA408317306 | BFSP1 | c.881A>G (p.Gln294Arg) c.464A>G (p.Gln155Arg) c.506A>G (p.Gln169Arg) c.548A>G (p.Gln183Arg) c.773A>G (p.Gln258Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17498895T>G | CA408317305 | BFSP1 | c.881A>C (p.Gln294Pro) c.464A>C (p.Gln155Pro) c.506A>C (p.Gln169Pro) c.548A>C (p.Gln183Pro) c.773A>C (p.Gln258Pro) | |
20 | g.17498895T= | CA2353084845 | BFSP1 | c.881A= (p.Gln294=) c.464A= (p.Gln155=) c.506A= (p.Gln169=) c.548A= (p.Gln183=) c.773A= (p.Gln258=) | |
20 | g.17498896G>A | CA408317307 | BFSP1 | c.880C>T (p.Gln294Ter) c.463C>T (p.Gln155Ter) c.505C>T (p.Gln169Ter) c.547C>T (p.Gln183Ter) c.772C>T (p.Gln258Ter) | |
20 | g.17498896G>C | CA408317308 | BFSP1 | c.880C>G (p.Gln294Glu) c.463C>G (p.Gln155Glu) c.505C>G (p.Gln169Glu) c.547C>G (p.Gln183Glu) c.772C>G (p.Gln258Glu) | |
20 | g.17498896G>T | CA408317309 | BFSP1 | c.880C>A (p.Gln294Lys) c.463C>A (p.Gln155Lys) c.505C>A (p.Gln169Lys) c.547C>A (p.Gln183Lys) c.772C>A (p.Gln258Lys) | |
20 | g.17498897C>A | CA509810199 | BFSP1 | c.879G>T (p.Arg293=) c.462G>T (p.Arg154=) c.504G>T (p.Arg168=) c.546G>T (p.Arg182=) c.771G>T (p.Arg257=) | |
20 | g.17498897C= | CA2353084846 | BFSP1 | c.879G= (p.Arg293=) c.462G= (p.Arg154=) c.504G= (p.Arg168=) c.546G= (p.Arg182=) c.771G= (p.Arg257=) | |
20 | g.17498897C>G | CA509810200 | BFSP1 | c.879G>C (p.Arg293=) c.462G>C (p.Arg154=) c.504G>C (p.Arg168=) c.546G>C (p.Arg182=) c.771G>C (p.Arg257=) | |
20 | g.17498897C>T | CA9772185 | BFSP1 | c.879G>A (p.Arg293=) c.462G>A (p.Arg154=) c.504G>A (p.Arg168=) c.546G>A (p.Arg182=) c.771G>A (p.Arg257=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17498898C>A | CA408317310 | BFSP1 | c.878G>T (p.Arg293Leu) c.461G>T (p.Arg154Leu) c.503G>T (p.Arg168Leu) c.545G>T (p.Arg182Leu) c.770G>T (p.Arg257Leu) | |
20 | g.17498898C= | CA2353084847 | BFSP1 | c.878G= (p.Arg293=) c.461G= (p.Arg154=) c.503G= (p.Arg168=) c.545G= (p.Arg182=) c.770G= (p.Arg257=) | |
20 | g.17498898C>G | CA408317311 | BFSP1 | c.878G>C (p.Arg293Pro) c.461G>C (p.Arg154Pro) c.503G>C (p.Arg168Pro) c.545G>C (p.Arg182Pro) c.770G>C (p.Arg257Pro) | |
20 | g.17498898C>T | CA9772186 | BFSP1 | c.878G>A (p.Arg293Gln) c.461G>A (p.Arg154Gln) c.503G>A (p.Arg168Gln) c.545G>A (p.Arg182Gln) c.770G>A (p.Arg257Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17498899G>A | CA9772187 | BFSP1 | c.877C>T (p.Arg293Trp) c.460C>T (p.Arg154Trp) c.502C>T (p.Arg168Trp) c.544C>T (p.Arg182Trp) c.769C>T (p.Arg257Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.17498899G>C | CA408317312 | BFSP1 | c.877C>G (p.Arg293Gly) c.460C>G (p.Arg154Gly) c.502C>G (p.Arg168Gly) c.544C>G (p.Arg182Gly) c.769C>G (p.Arg257Gly) | |
20 | g.17498899G= | CA2353084848 | BFSP1 | c.877C= (p.Arg293=) c.460C= (p.Arg154=) c.502C= (p.Arg168=) c.544C= (p.Arg182=) c.769C= (p.Arg257=) | |
20 | g.17498899G>T | CA509810204 | BFSP1 | c.877C>A (p.Arg293=) c.460C>A (p.Arg154=) c.502C>A (p.Arg168=) c.544C>A (p.Arg182=) c.769C>A (p.Arg257=) | |
20 | g.17498900G>A | CA509810205 | BFSP1 | c.876C>T (p.Cys292=) c.459C>T (p.Cys153=) c.501C>T (p.Cys167=) c.543C>T (p.Cys181=) c.768C>T (p.Cys256=) | |
20 | g.17498900G>C | CA408317313 | BFSP1 | c.876C>G (p.Cys292Trp) c.459C>G (p.Cys153Trp) c.501C>G (p.Cys167Trp) c.543C>G (p.Cys181Trp) c.768C>G (p.Cys256Trp) | |
20 | g.17498900G>T | CA408317314 | BFSP1 | c.876C>A (p.Cys292Ter) c.459C>A (p.Cys153Ter) c.501C>A (p.Cys167Ter) c.543C>A (p.Cys181Ter) c.768C>A (p.Cys256Ter) | |
20 | g.17498901C>A | CA408317316 | BFSP1 | c.875G>T (p.Cys292Phe) c.458G>T (p.Cys153Phe) c.500G>T (p.Cys167Phe) c.542G>T (p.Cys181Phe) c.767G>T (p.Cys256Phe) | |
20 | g.17498901C= | CA2353084849 | BFSP1 | c.875G= (p.Cys292=) c.458G= (p.Cys153=) c.500G= (p.Cys167=) c.542G= (p.Cys181=) c.767G= (p.Cys256=) | |
20 | g.17498901C>G | CA408317315 | BFSP1 | c.875G>C (p.Cys292Ser) c.458G>C (p.Cys153Ser) c.500G>C (p.Cys167Ser) c.542G>C (p.Cys181Ser) c.767G>C (p.Cys256Ser) | |
20 | g.17498901C>T | CA9772188 | BFSP1 | c.875G>A (p.Cys292Tyr) c.458G>A (p.Cys153Tyr) c.500G>A (p.Cys167Tyr) c.542G>A (p.Cys181Tyr) c.767G>A (p.Cys256Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17498902A= | CA2353084850 | BFSP1 | c.874T= (p.Cys292=) c.457T= (p.Cys153=) c.499T= (p.Cys167=) c.541T= (p.Cys181=) c.766T= (p.Cys256=) | |
20 | g.17498902A>C | CA408317317 | BFSP1 | c.874T>G (p.Cys292Gly) c.457T>G (p.Cys153Gly) c.499T>G (p.Cys167Gly) c.541T>G (p.Cys181Gly) c.766T>G (p.Cys256Gly) | |
20 | g.17498902A>G | CA9772189 | BFSP1 | c.874T>C (p.Cys292Arg) c.457T>C (p.Cys153Arg) c.499T>C (p.Cys167Arg) c.541T>C (p.Cys181Arg) c.766T>C (p.Cys256Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.17498902A>T | CA408317318 | BFSP1 | c.874T>A (p.Cys292Ser) c.457T>A (p.Cys153Ser) c.499T>A (p.Cys167Ser) c.541T>A (p.Cys181Ser) c.766T>A (p.Cys256Ser) | |
20 | g.17498903G>A | CA509810207 | BFSP1 | c.873C>T (p.Asp291=) c.456C>T (p.Asp152=) c.498C>T (p.Asp166=) c.540C>T (p.Asp180=) c.765C>T (p.Asp255=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17498903G>C | CA408317319 | BFSP1 | c.873C>G (p.Asp291Glu) c.456C>G (p.Asp152Glu) c.498C>G (p.Asp166Glu) c.540C>G (p.Asp180Glu) c.765C>G (p.Asp255Glu) | |
20 | g.17498903G= | CA2353084851 | BFSP1 | c.873C= (p.Asp291=) c.456C= (p.Asp152=) c.498C= (p.Asp166=) c.540C= (p.Asp180=) c.765C= (p.Asp255=) | |
20 | g.17498903G>T | CA408317320 | BFSP1 | c.873C>A (p.Asp291Glu) c.456C>A (p.Asp152Glu) c.498C>A (p.Asp166Glu) c.540C>A (p.Asp180Glu) c.765C>A (p.Asp255Glu) | |
20 | g.17498904T>A | CA408317321 | BFSP1 | c.872A>T (p.Asp291Val) c.455A>T (p.Asp152Val) c.497A>T (p.Asp166Val) c.539A>T (p.Asp180Val) c.764A>T (p.Asp255Val) | |
20 | g.17498904T>C | CA408317322 | BFSP1 | c.872A>G (p.Asp291Gly) c.455A>G (p.Asp152Gly) c.497A>G (p.Asp166Gly) c.539A>G (p.Asp180Gly) c.764A>G (p.Asp255Gly) | gnomAD v4 |
20 | g.17498904T>G | CA408317323 | BFSP1 | c.872A>C (p.Asp291Ala) c.455A>C (p.Asp152Ala) c.497A>C (p.Asp166Ala) c.539A>C (p.Asp180Ala) c.764A>C (p.Asp255Ala) | |
20 | g.17498905C>A | CA408317324 | BFSP1 | c.871G>T (p.Asp291Tyr) c.454G>T (p.Asp152Tyr) c.496G>T (p.Asp166Tyr) c.538G>T (p.Asp180Tyr) c.763G>T (p.Asp255Tyr) | |
20 | g.17498905C= | CA2353084852 | BFSP1 | c.871G= (p.Asp291=) c.454G= (p.Asp152=) c.496G= (p.Asp166=) c.538G= (p.Asp180=) c.763G= (p.Asp255=) | |
20 | g.17498905C>G | CA408317325 | BFSP1 | c.871G>C (p.Asp291His) c.454G>C (p.Asp152His) c.496G>C (p.Asp166His) c.538G>C (p.Asp180His) c.763G>C (p.Asp255His) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.17498905C>T | CA9772190 | BFSP1 | c.871G>A (p.Asp291Asn) c.454G>A (p.Asp152Asn) c.496G>A (p.Asp166Asn) c.538G>A (p.Asp180Asn) c.763G>A (p.Asp255Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.17498906G>A | CA9772191 | BFSP1 | c.870C>T (p.Tyr290=) c.453C>T (p.Tyr151=) c.495C>T (p.Tyr165=) c.537C>T (p.Tyr179=) c.762C>T (p.Tyr254=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17498906G>C | CA408317326 | BFSP1 | c.870C>G (p.Tyr290Ter) c.453C>G (p.Tyr151Ter) c.495C>G (p.Tyr165Ter) c.537C>G (p.Tyr179Ter) c.762C>G (p.Tyr254Ter) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.17498906G= | CA2353084853 | BFSP1 | c.870C= (p.Tyr290=) c.453C= (p.Tyr151=) c.495C= (p.Tyr165=) c.537C= (p.Tyr179=) c.762C= (p.Tyr254=) | |
20 | g.17498906G>T | CA312242267 | BFSP1 | c.870C>A (p.Tyr290Ter) c.453C>A (p.Tyr151Ter) c.495C>A (p.Tyr165Ter) c.537C>A (p.Tyr179Ter) c.762C>A (p.Tyr254Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17498907T>A | CA408317327 | BFSP1 | c.869A>T (p.Tyr290Phe) c.452A>T (p.Tyr151Phe) c.494A>T (p.Tyr165Phe) c.536A>T (p.Tyr179Phe) c.761A>T (p.Tyr254Phe) | |
20 | g.17498907T>C | CA312242280 | BFSP1 | c.869A>G (p.Tyr290Cys) c.452A>G (p.Tyr151Cys) c.494A>G (p.Tyr165Cys) c.536A>G (p.Tyr179Cys) c.761A>G (p.Tyr254Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17498907T>G | CA408317328 | BFSP1 | c.869A>C (p.Tyr290Ser) c.452A>C (p.Tyr151Ser) c.494A>C (p.Tyr165Ser) c.536A>C (p.Tyr179Ser) c.761A>C (p.Tyr254Ser) | |
20 | g.17498907T= | CA2353084854 | BFSP1 | c.869A= (p.Tyr290=) c.452A= (p.Tyr151=) c.494A= (p.Tyr165=) c.536A= (p.Tyr179=) c.761A= (p.Tyr254=) | |
20 | g.17498907dup | CA9772192 | BFSP1 | c.869dup (p.Tyr290Ter) c.452dup (p.Tyr151Ter) c.494dup (p.Tyr165Ter) c.536dup (p.Tyr179Ter) c.761dup (p.Tyr254Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17498908A>C | CA408317331 | BFSP1 | c.868T>G (p.Tyr290Asp) c.451T>G (p.Tyr151Asp) c.493T>G (p.Tyr165Asp) c.535T>G (p.Tyr179Asp) c.760T>G (p.Tyr254Asp) | |
20 | g.17498908A>G | CA408317330 | BFSP1 | c.868T>C (p.Tyr290His) c.451T>C (p.Tyr151His) c.493T>C (p.Tyr165His) c.535T>C (p.Tyr179His) c.760T>C (p.Tyr254His) | |
20 | g.17498908A>T | CA408317329 | BFSP1 | c.868T>A (p.Tyr290Asn) c.451T>A (p.Tyr151Asn) c.493T>A (p.Tyr165Asn) c.535T>A (p.Tyr179Asn) c.760T>A (p.Tyr254Asn) | |
20 | g.17498912_17498914del | CA2651989254 | BFSP1 | c.866_868del (p.Ser289del) c.449_451del (p.Ser150del) c.491_493del (p.Ser164del) c.533_535del (p.Ser178del) c.758_760del (p.Ser253del) | gnomAD v4 |
20 | g.17498909A>C | CA509810210 | BFSP1 | c.867T>G (p.Ser289=) c.450T>G (p.Ser150=) c.492T>G (p.Ser164=) c.534T>G (p.Ser178=) c.759T>G (p.Ser253=) | |
20 | g.17498909A>G | CA509810211 | BFSP1 | c.867T>C (p.Ser289=) c.450T>C (p.Ser150=) c.492T>C (p.Ser164=) c.534T>C (p.Ser178=) c.759T>C (p.Ser253=) | |
20 | g.17498909A>T | CA509810212 | BFSP1 | c.867T>A (p.Ser289=) c.450T>A (p.Ser150=) c.492T>A (p.Ser164=) c.534T>A (p.Ser178=) c.759T>A (p.Ser253=) | |
20 | g.17498910G>A | CA408317332 | BFSP1 | c.866C>T (p.Ser289Phe) c.449C>T (p.Ser150Phe) c.491C>T (p.Ser164Phe) c.533C>T (p.Ser178Phe) c.758C>T (p.Ser253Phe) | |
20 | g.17498910G>C | CA408317333 | BFSP1 | c.866C>G (p.Ser289Cys) c.449C>G (p.Ser150Cys) c.491C>G (p.Ser164Cys) c.533C>G (p.Ser178Cys) c.758C>G (p.Ser253Cys) | dbSNP gnomAD v4 |
20 | g.17498910G= | CA2353084855 | BFSP1 | c.866C= (p.Ser289=) c.449C= (p.Ser150=) c.491C= (p.Ser164=) c.533C= (p.Ser178=) c.758C= (p.Ser253=) | |
20 | g.17498910G>T | CA408317334 | BFSP1 | c.866C>A (p.Ser289Tyr) c.449C>A (p.Ser150Tyr) c.491C>A (p.Ser164Tyr) c.533C>A (p.Ser178Tyr) c.758C>A (p.Ser253Tyr) | |
20 | g.17498911A>C | CA408317335 | BFSP1 | c.865T>G (p.Ser289Ala) c.448T>G (p.Ser150Ala) c.490T>G (p.Ser164Ala) c.532T>G (p.Ser178Ala) c.757T>G (p.Ser253Ala) | |
20 | g.17498911A>G | CA408317336 | BFSP1 | c.865T>C (p.Ser289Pro) c.448T>C (p.Ser150Pro) c.490T>C (p.Ser164Pro) c.532T>C (p.Ser178Pro) c.757T>C (p.Ser253Pro) | |
20 | g.17498911A>T | CA408317337 | BFSP1 | c.865T>A (p.Ser289Thr) c.448T>A (p.Ser150Thr) c.490T>A (p.Ser164Thr) c.532T>A (p.Ser178Thr) c.757T>A (p.Ser253Thr) | |
20 | g.17498912A>C | CA509810217 | BFSP1 | c.864T>G (p.Ser288=) c.447T>G (p.Ser149=) c.489T>G (p.Ser163=) c.531T>G (p.Ser177=) c.756T>G (p.Ser252=) | |
20 | g.17498912A>G | CA509810218 | BFSP1 | c.864T>C (p.Ser288=) c.447T>C (p.Ser149=) c.489T>C (p.Ser163=) c.531T>C (p.Ser177=) c.756T>C (p.Ser252=) | gnomAD v4 |
20 | g.17498912A>T | CA509810219 | BFSP1 | c.864T>A (p.Ser288=) c.447T>A (p.Ser149=) c.489T>A (p.Ser163=) c.531T>A (p.Ser177=) c.756T>A (p.Ser252=) | |
20 | g.17498913G>A | CA408317340 | BFSP1 | c.863C>T (p.Ser288Phe) c.446C>T (p.Ser149Phe) c.488C>T (p.Ser163Phe) c.530C>T (p.Ser177Phe) c.755C>T (p.Ser252Phe) | |
20 | g.17498913G>C | CA408317338 | BFSP1 | c.863C>G (p.Ser288Cys) c.446C>G (p.Ser149Cys) c.488C>G (p.Ser163Cys) c.530C>G (p.Ser177Cys) c.755C>G (p.Ser252Cys) | |
20 | g.17498913G>T | CA408317339 | BFSP1 | c.863C>A (p.Ser288Tyr) c.446C>A (p.Ser149Tyr) c.488C>A (p.Ser163Tyr) c.530C>A (p.Ser177Tyr) c.755C>A (p.Ser252Tyr) | |
20 | g.17498914A>C | CA408317341 | BFSP1 | c.862T>G (p.Ser288Ala) c.445T>G (p.Ser149Ala) c.487T>G (p.Ser163Ala) c.529T>G (p.Ser177Ala) c.754T>G (p.Ser252Ala) | |
20 | g.17498914A>G | CA408317342 | BFSP1 | c.862T>C (p.Ser288Pro) c.445T>C (p.Ser149Pro) c.487T>C (p.Ser163Pro) c.529T>C (p.Ser177Pro) c.754T>C (p.Ser252Pro) | |
20 | g.17498914A>T | CA408317343 | BFSP1 | c.862T>A (p.Ser288Thr) c.445T>A (p.Ser149Thr) c.487T>A (p.Ser163Thr) c.529T>A (p.Ser177Thr) c.754T>A (p.Ser252Thr) | |
20 | g.17498915C>A | CA9772193 | BFSP1 | c.861G>T (p.Lys287Asn) c.444G>T (p.Lys148Asn) c.486G>T (p.Lys162Asn) c.528G>T (p.Lys176Asn) c.753G>T (p.Lys251Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.17498915C= | CA2353084856 | BFSP1 | c.861G= (p.Lys287=) c.444G= (p.Lys148=) c.486G= (p.Lys162=) c.528G= (p.Lys176=) c.753G= (p.Lys251=) | |
20 | g.17498915C>G | CA408317344 | BFSP1 | c.861G>C (p.Lys287Asn) c.444G>C (p.Lys148Asn) c.486G>C (p.Lys162Asn) c.528G>C (p.Lys176Asn) c.753G>C (p.Lys251Asn) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.17498915C>T | CA509810249 | BFSP1 | c.861G>A (p.Lys287=) c.444G>A (p.Lys148=) c.486G>A (p.Lys162=) c.528G>A (p.Lys176=) c.753G>A (p.Lys251=) | |
20 | g.17498916T>A | CA408317345 | BFSP1 | c.860A>T (p.Lys287Met) c.443A>T (p.Lys148Met) c.485A>T (p.Lys162Met) c.527A>T (p.Lys176Met) c.752A>T (p.Lys251Met) | |
20 | g.17498916T>C | CA9772194 | BFSP1 | c.860A>G (p.Lys287Arg) c.443A>G (p.Lys148Arg) c.485A>G (p.Lys162Arg) c.527A>G (p.Lys176Arg) c.752A>G (p.Lys251Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17498916T>G | CA408317346 | BFSP1 | c.860A>C (p.Lys287Thr) c.443A>C (p.Lys148Thr) c.485A>C (p.Lys162Thr) c.527A>C (p.Lys176Thr) c.752A>C (p.Lys251Thr) | |
20 | g.17498916T= | CA2353084857 | BFSP1 | c.860A= (p.Lys287=) c.443A= (p.Lys148=) c.485A= (p.Lys162=) c.527A= (p.Lys176=) c.752A= (p.Lys251=) | |
20 | g.17498917T>A | CA408317347 | BFSP1 | c.859A>T (p.Lys287Ter) c.442A>T (p.Lys148Ter) c.484A>T (p.Lys162Ter) c.526A>T (p.Lys176Ter) c.751A>T (p.Lys251Ter) | |
20 | g.17498917T>C | CA408317348 | BFSP1 | c.859A>G (p.Lys287Glu) c.442A>G (p.Lys148Glu) c.484A>G (p.Lys162Glu) c.526A>G (p.Lys176Glu) c.751A>G (p.Lys251Glu) | |
20 | g.17498917T>G | CA408317349 | BFSP1 | c.859A>C (p.Lys287Gln) c.442A>C (p.Lys148Gln) c.484A>C (p.Lys162Gln) c.526A>C (p.Lys176Gln) c.751A>C (p.Lys251Gln) | |
20 | g.17498918C>A | CA408317350 | BFSP1 | c.858G>T (p.Glu286Asp) c.441G>T (p.Glu147Asp) c.483G>T (p.Glu161Asp) c.525G>T (p.Glu175Asp) c.750G>T (p.Glu250Asp) | |
20 | g.17498918C>G | CA408317351 | BFSP1 | c.858G>C (p.Glu286Asp) c.441G>C (p.Glu147Asp) c.483G>C (p.Glu161Asp) c.525G>C (p.Glu175Asp) c.750G>C (p.Glu250Asp) | |
20 | g.17498918C>T | CA509810250 | BFSP1 | c.858G>A (p.Glu286=) c.441G>A (p.Glu147=) c.483G>A (p.Glu161=) c.525G>A (p.Glu175=) c.750G>A (p.Glu250=) | |
20 | g.17498919T>A | CA408317352 | BFSP1 | c.857A>T (p.Glu286Val) c.440A>T (p.Glu147Val) c.482A>T (p.Glu161Val) c.524A>T (p.Glu175Val) c.749A>T (p.Glu250Val) | |
20 | g.17498919T>C | CA408317354 | BFSP1 | c.857A>G (p.Glu286Gly) c.440A>G (p.Glu147Gly) c.482A>G (p.Glu161Gly) c.524A>G (p.Glu175Gly) c.749A>G (p.Glu250Gly) | |
20 | g.17498919T>G | CA408317353 | BFSP1 | c.857A>C (p.Glu286Ala) c.440A>C (p.Glu147Ala) c.482A>C (p.Glu161Ala) c.524A>C (p.Glu175Ala) c.749A>C (p.Glu250Ala) | gnomAD v4 |
20 | g.17498920C>A | CA408317355 | BFSP1 | c.856G>T (p.Glu286Ter) c.439G>T (p.Glu147Ter) c.481G>T (p.Glu161Ter) c.523G>T (p.Glu175Ter) c.748G>T (p.Glu250Ter) | |
20 | g.17498920C= | CA2353084858 | BFSP1 | c.856G= (p.Glu286=) c.439G= (p.Glu147=) c.481G= (p.Glu161=) c.523G= (p.Glu175=) c.748G= (p.Glu250=) | |
20 | g.17498920C>G | CA408317356 | BFSP1 | c.856G>C (p.Glu286Gln) c.439G>C (p.Glu147Gln) c.481G>C (p.Glu161Gln) c.523G>C (p.Glu175Gln) c.748G>C (p.Glu250Gln) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.17498920C>T | CA408317357 | BFSP1 | c.856G>A (p.Glu286Lys) c.439G>A (p.Glu147Lys) c.481G>A (p.Glu161Lys) c.523G>A (p.Glu175Lys) c.748G>A (p.Glu250Lys) | |
20 | g.17498921C>A | CA509810251 | BFSP1 | c.855G>T (p.Leu285=) c.438G>T (p.Leu146=) c.480G>T (p.Leu160=) c.522G>T (p.Leu174=) c.747G>T (p.Leu249=) | |
20 | g.17498921C>G | CA509810252 | BFSP1 | c.855G>C (p.Leu285=) c.438G>C (p.Leu146=) c.480G>C (p.Leu160=) c.522G>C (p.Leu174=) c.747G>C (p.Leu249=) | |
20 | g.17498921C>T | CA509810253 | BFSP1 | c.855G>A (p.Leu285=) c.438G>A (p.Leu146=) c.480G>A (p.Leu160=) c.522G>A (p.Leu174=) c.747G>A (p.Leu249=) | gnomAD v4 COSMIC COSMIC |
20 | g.17498922A>C | CA408317358 | BFSP1 | c.854T>G (p.Leu285Arg) c.437T>G (p.Leu146Arg) c.479T>G (p.Leu160Arg) c.521T>G (p.Leu174Arg) c.746T>G (p.Leu249Arg) | |
20 | g.17498922A>G | CA408317359 | BFSP1 | c.854T>C (p.Leu285Pro) c.437T>C (p.Leu146Pro) c.479T>C (p.Leu160Pro) c.521T>C (p.Leu174Pro) c.746T>C (p.Leu249Pro) | gnomAD v4 |
20 | g.17498922A>T | CA408317360 | BFSP1 | c.854T>A (p.Leu285Gln) c.437T>A (p.Leu146Gln) c.479T>A (p.Leu160Gln) c.521T>A (p.Leu174Gln) c.746T>A (p.Leu249Gln) | |
20 | g.17498923G>A | CA509810254 | BFSP1 | c.853C>T (p.Leu285=) c.436C>T (p.Leu146=) c.478C>T (p.Leu160=) c.520C>T (p.Leu174=) c.745C>T (p.Leu249=) | |
20 | g.17498923G>C | CA408317361 | BFSP1 | c.853C>G (p.Leu285Val) c.436C>G (p.Leu146Val) c.478C>G (p.Leu160Val) c.520C>G (p.Leu174Val) c.745C>G (p.Leu249Val) | |
20 | g.17498923G>T | CA408317362 | BFSP1 | c.853C>A (p.Leu285Met) c.436C>A (p.Leu146Met) c.478C>A (p.Leu160Met) c.520C>A (p.Leu174Met) c.745C>A (p.Leu249Met) | |
20 | g.17498924G>A | CA509810257 | BFSP1 | c.852C>T (p.Val284=) c.435C>T (p.Val145=) c.477C>T (p.Val159=) c.519C>T (p.Val173=) c.744C>T (p.Val248=) | |
20 | g.17498924G>C | CA509810256 | BFSP1 | c.852C>G (p.Val284=) c.435C>G (p.Val145=) c.477C>G (p.Val159=) c.519C>G (p.Val173=) c.744C>G (p.Val248=) | |
20 | g.17498924G>T | CA509810255 | BFSP1 | c.852C>A (p.Val284=) c.435C>A (p.Val145=) c.477C>A (p.Val159=) c.519C>A (p.Val173=) c.744C>A (p.Val248=) | |
20 | g.17498924_17498925delinsGA | CA2353084859 | BFSP1 | c.851_852delinsTC (p.Val284=) c.434_435delinsTC (p.Val145=) c.476_477delinsTC (p.Val159=) c.518_519delinsTC (p.Val173=) c.743_744delinsTC (p.Val248=) | |
20 | g.17498925del | CA2353084860 | BFSP1 | c.851del (p.Val284AlafsTer19) c.434del (p.Val145AlafsTer19) c.476del (p.Val159AlafsTer19) c.518del (p.Val173AlafsTer19) c.743del (p.Val248AlafsTer19) | dbSNP |
20 | g.17498925A= | CA2353084861 | BFSP1 | c.851T= (p.Val284=) c.434T= (p.Val145=) c.476T= (p.Val159=) c.518T= (p.Val173=) c.743T= (p.Val248=) | |
20 | g.17498925A>C | CA408317363 | BFSP1 | c.851T>G (p.Val284Gly) c.434T>G (p.Val145Gly) c.476T>G (p.Val159Gly) c.518T>G (p.Val173Gly) c.743T>G (p.Val248Gly) | |
20 | g.17498925A>G | CA408317364 | BFSP1 | c.851T>C (p.Val284Ala) c.434T>C (p.Val145Ala) c.476T>C (p.Val159Ala) c.518T>C (p.Val173Ala) c.743T>C (p.Val248Ala) | |
20 | g.17498925A>T | CA9772195 | BFSP1 | c.851T>A (p.Val284Asp) c.434T>A (p.Val145Asp) c.476T>A (p.Val159Asp) c.518T>A (p.Val173Asp) c.743T>A (p.Val248Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.17498926C>A | CA408317366 | BFSP1 | c.850G>T (p.Val284Phe) c.433G>T (p.Val145Phe) c.475G>T (p.Val159Phe) c.517G>T (p.Val173Phe) c.742G>T (p.Val248Phe) | |
20 | g.17498926C= | CA2353084862 | BFSP1 | c.850G= (p.Val284=) c.433G= (p.Val145=) c.475G= (p.Val159=) c.517G= (p.Val173=) c.742G= (p.Val248=) | |
20 | g.17498926C>G | CA408317365 | BFSP1 | c.850G>C (p.Val284Leu) c.433G>C (p.Val145Leu) c.475G>C (p.Val159Leu) c.517G>C (p.Val173Leu) c.742G>C (p.Val248Leu) | |
20 | g.17498926C>T | CA312242299 | BFSP1 | c.850G>A (p.Val284Ile) c.433G>A (p.Val145Ile) c.475G>A (p.Val159Ile) c.517G>A (p.Val173Ile) c.742G>A (p.Val248Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17498927C>A | CA509810258 | BFSP1 | c.849G>T (p.Arg283=) c.432G>T (p.Arg144=) c.474G>T (p.Arg158=) c.516G>T (p.Arg172=) c.741G>T (p.Arg247=) | |
20 | g.17498927C>G | CA509810259 | BFSP1 | c.849G>C (p.Arg283=) c.432G>C (p.Arg144=) c.474G>C (p.Arg158=) c.516G>C (p.Arg172=) c.741G>C (p.Arg247=) | |
20 | g.17498927C>T | CA509810260 | BFSP1 | c.849G>A (p.Arg283=) c.432G>A (p.Arg144=) c.474G>A (p.Arg158=) c.516G>A (p.Arg172=) c.741G>A (p.Arg247=) | |
20 | g.17498928C>A | CA408317367 | BFSP1 | c.848G>T (p.Arg283Leu) c.431G>T (p.Arg144Leu) c.473G>T (p.Arg158Leu) c.515G>T (p.Arg172Leu) c.740G>T (p.Arg247Leu) | |
20 | g.17498928C>G | CA408317368 | BFSP1 | c.848G>C (p.Arg283Pro) c.431G>C (p.Arg144Pro) c.473G>C (p.Arg158Pro) c.515G>C (p.Arg172Pro) c.740G>C (p.Arg247Pro) | |
20 | g.17498928C>T | CA408317369 | BFSP1 | c.848G>A (p.Arg283Gln) c.431G>A (p.Arg144Gln) c.473G>A (p.Arg158Gln) c.515G>A (p.Arg172Gln) c.740G>A (p.Arg247Gln) | gnomAD v4 |
20 | g.17498929G>A | CA408317370 | BFSP1 | c.847C>T (p.Arg283Trp) c.430C>T (p.Arg144Trp) c.472C>T (p.Arg158Trp) c.514C>T (p.Arg172Trp) c.739C>T (p.Arg247Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.17498929G>C | CA408317371 | BFSP1 | c.847C>G (p.Arg283Gly) c.430C>G (p.Arg144Gly) c.472C>G (p.Arg158Gly) c.514C>G (p.Arg172Gly) c.739C>G (p.Arg247Gly) | |
20 | g.17498929G= | CA2353084863 | BFSP1 | c.847C= (p.Arg283=) c.430C= (p.Arg144=) c.472C= (p.Arg158=) c.514C= (p.Arg172=) c.739C= (p.Arg247=) | |
20 | g.17498929G>T | CA509810261 | BFSP1 | c.847C>A (p.Arg283=) c.430C>A (p.Arg144=) c.472C>A (p.Arg158=) c.514C>A (p.Arg172=) c.739C>A (p.Arg247=) | gnomAD v4 |
20 | g.17498930C>A | CA408317372 | BFSP1 | c.846G>T (p.Glu282Asp) c.429G>T (p.Glu143Asp) c.471G>T (p.Glu157Asp) c.513G>T (p.Glu171Asp) c.738G>T (p.Glu246Asp) | |
20 | g.17498930C= | CA2353084864 | BFSP1 | c.846G= (p.Glu282=) c.429G= (p.Glu143=) c.471G= (p.Glu157=) c.513G= (p.Glu171=) c.738G= (p.Glu246=) | |
20 | g.17498930C>G | CA408317373 | BFSP1 | c.846G>C (p.Glu282Asp) c.429G>C (p.Glu143Asp) c.471G>C (p.Glu157Asp) c.513G>C (p.Glu171Asp) c.738G>C (p.Glu246Asp) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.17498930C>T | CA509810262 | BFSP1 | c.846G>A (p.Glu282=) c.429G>A (p.Glu143=) c.471G>A (p.Glu157=) c.513G>A (p.Glu171=) c.738G>A (p.Glu246=) | |
20 | g.17498931T>A | CA408317374 | BFSP1 | c.845A>T (p.Glu282Val) c.428A>T (p.Glu143Val) c.470A>T (p.Glu157Val) c.512A>T (p.Glu171Val) c.737A>T (p.Glu246Val) | |
20 | g.17498931T>C | CA408317375 | BFSP1 | c.845A>G (p.Glu282Gly) c.428A>G (p.Glu143Gly) c.470A>G (p.Glu157Gly) c.512A>G (p.Glu171Gly) c.737A>G (p.Glu246Gly) | gnomAD v4 |
20 | g.17498931T>G | CA408317376 | BFSP1 | c.845A>C (p.Glu282Ala) c.428A>C (p.Glu143Ala) c.470A>C (p.Glu157Ala) c.512A>C (p.Glu171Ala) c.737A>C (p.Glu246Ala) | |
20 | g.17498932C>A | CA408317377 | BFSP1 | c.844G>T (p.Glu282Ter) c.427G>T (p.Glu143Ter) c.469G>T (p.Glu157Ter) c.511G>T (p.Glu171Ter) c.736G>T (p.Glu246Ter) | |
20 | g.17498932C>G | CA408317378 | BFSP1 | c.844G>C (p.Glu282Gln) c.427G>C (p.Glu143Gln) c.469G>C (p.Glu157Gln) c.511G>C (p.Glu171Gln) c.736G>C (p.Glu246Gln) | gnomAD v4 |
20 | g.17498932C>T | CA408317379 | BFSP1 | c.844G>A (p.Glu282Lys) c.427G>A (p.Glu143Lys) c.469G>A (p.Glu157Lys) c.511G>A (p.Glu171Lys) c.736G>A (p.Glu246Lys) | |
20 | g.17498933T>A | CA509810263 | BFSP1 | c.843A>T (p.Thr281=) c.426A>T (p.Thr142=) c.468A>T (p.Thr156=) c.510A>T (p.Thr170=) c.735A>T (p.Thr245=) | |
20 | g.17498933T>C | CA509810264 | BFSP1 | c.843A>G (p.Thr281=) c.426A>G (p.Thr142=) c.468A>G (p.Thr156=) c.510A>G (p.Thr170=) c.735A>G (p.Thr245=) | |
20 | g.17498933T>G | CA509810265 | BFSP1 | c.843A>C (p.Thr281=) c.426A>C (p.Thr142=) c.468A>C (p.Thr156=) c.510A>C (p.Thr170=) c.735A>C (p.Thr245=) | |
20 | g.17498934G>A | CA408317381 | BFSP1 | c.842C>T (p.Thr281Ile) c.425C>T (p.Thr142Ile) c.467C>T (p.Thr156Ile) c.509C>T (p.Thr170Ile) c.734C>T (p.Thr245Ile) | |
20 | g.17498934G>C | CA408317382 | BFSP1 | c.842C>G (p.Thr281Arg) c.425C>G (p.Thr142Arg) c.467C>G (p.Thr156Arg) c.509C>G (p.Thr170Arg) c.734C>G (p.Thr245Arg) | |
20 | g.17498934G>T | CA408317380 | BFSP1 | c.842C>A (p.Thr281Lys) c.425C>A (p.Thr142Lys) c.467C>A (p.Thr156Lys) c.509C>A (p.Thr170Lys) c.734C>A (p.Thr245Lys) | |
20 | g.17498935T>A | CA408317385 | BFSP1 | c.841A>T (p.Thr281Ser) c.424A>T (p.Thr142Ser) c.466A>T (p.Thr156Ser) c.508A>T (p.Thr170Ser) c.733A>T (p.Thr245Ser) | |
20 | g.17498935T>C | CA408317383 | BFSP1 | c.841A>G (p.Thr281Ala) c.424A>G (p.Thr142Ala) c.466A>G (p.Thr156Ala) c.508A>G (p.Thr170Ala) c.733A>G (p.Thr245Ala) | |
20 | g.17498935T>G | CA408317384 | BFSP1 | c.841A>C (p.Thr281Pro) c.424A>C (p.Thr142Pro) c.466A>C (p.Thr156Pro) c.508A>C (p.Thr170Pro) c.733A>C (p.Thr245Pro) | |
20 | g.17498936C>A | CA408317386 | BFSP1 | c.840G>T (p.Glu280Asp) c.423G>T (p.Glu141Asp) c.465G>T (p.Glu155Asp) c.507G>T (p.Glu169Asp) c.732G>T (p.Glu244Asp) | |
20 | g.17498936C>G | CA408317387 | BFSP1 | c.840G>C (p.Glu280Asp) c.423G>C (p.Glu141Asp) c.465G>C (p.Glu155Asp) c.507G>C (p.Glu169Asp) c.732G>C (p.Glu244Asp) | |
20 | g.17498936C>T | CA509810266 | BFSP1 | c.840G>A (p.Glu280=) c.423G>A (p.Glu141=) c.465G>A (p.Glu155=) c.507G>A (p.Glu169=) c.732G>A (p.Glu244=) | |
20 | g.17498937T>A | CA312242305 | BFSP1 | c.839A>T (p.Glu280Val) c.422A>T (p.Glu141Val) c.464A>T (p.Glu155Val) c.506A>T (p.Glu169Val) c.731A>T (p.Glu244Val) | dbSNP |
20 | g.17498937T>C | CA408317388 | BFSP1 | c.839A>G (p.Glu280Gly) c.422A>G (p.Glu141Gly) c.464A>G (p.Glu155Gly) c.506A>G (p.Glu169Gly) c.731A>G (p.Glu244Gly) | |
20 | g.17498937T>G | CA408317389 | BFSP1 | c.839A>C (p.Glu280Ala) c.422A>C (p.Glu141Ala) c.464A>C (p.Glu155Ala) c.506A>C (p.Glu169Ala) c.731A>C (p.Glu244Ala) | |
20 | g.17498937T= | CA2353084865 | BFSP1 | c.839A= (p.Glu280=) c.422A= (p.Glu141=) c.464A= (p.Glu155=) c.506A= (p.Glu169=) c.731A= (p.Glu244=) | |
20 | g.17498938C>A | CA408317392 | BFSP1 | c.838G>T (p.Glu280Ter) c.421G>T (p.Glu141Ter) c.463G>T (p.Glu155Ter) c.505G>T (p.Glu169Ter) c.730G>T (p.Glu244Ter) | |
20 | g.17498938C>G | CA408317390 | BFSP1 | c.838G>C (p.Glu280Gln) c.421G>C (p.Glu141Gln) c.463G>C (p.Glu155Gln) c.505G>C (p.Glu169Gln) c.730G>C (p.Glu244Gln) | |
20 | g.17498938C>T | CA408317391 | BFSP1 | c.838G>A (p.Glu280Lys) c.421G>A (p.Glu141Lys) c.463G>A (p.Glu155Lys) c.505G>A (p.Glu169Lys) c.730G>A (p.Glu244Lys) | |
20 | g.17498939C>A | CA408317393 | BFSP1 | c.837G>T (p.Glu279Asp) c.420G>T (p.Glu140Asp) c.462G>T (p.Glu154Asp) c.504G>T (p.Glu168Asp) c.729G>T (p.Glu243Asp) | |
20 | g.17498939C>G | CA408317394 | BFSP1 | c.837G>C (p.Glu279Asp) c.420G>C (p.Glu140Asp) c.462G>C (p.Glu154Asp) c.504G>C (p.Glu168Asp) c.729G>C (p.Glu243Asp) | |
20 | g.17498939C>T | CA509810267 | BFSP1 | c.837G>A (p.Glu279=) c.420G>A (p.Glu140=) c.462G>A (p.Glu154=) c.504G>A (p.Glu168=) c.729G>A (p.Glu243=) | |
20 | g.17498940T>A | CA408317395 | BFSP1 | c.836A>T (p.Glu279Val) c.419A>T (p.Glu140Val) c.461A>T (p.Glu154Val) c.503A>T (p.Glu168Val) c.728A>T (p.Glu243Val) | |
20 | g.17498940T>C | CA408317396 | BFSP1 | c.836A>G (p.Glu279Gly) c.419A>G (p.Glu140Gly) c.461A>G (p.Glu154Gly) c.503A>G (p.Glu168Gly) c.728A>G (p.Glu243Gly) | |
20 | g.17498940T>G | CA408317397 | BFSP1 | c.836A>C (p.Glu279Ala) c.419A>C (p.Glu140Ala) c.461A>C (p.Glu154Ala) c.503A>C (p.Glu168Ala) c.728A>C (p.Glu243Ala) | |
20 | g.17498941C>A | CA408317398 | BFSP1 | c.835G>T (p.Glu279Ter) c.418G>T (p.Glu140Ter) c.460G>T (p.Glu154Ter) c.502G>T (p.Glu168Ter) c.727G>T (p.Glu243Ter) | |
20 | g.17498941C>G | CA408317400 | BFSP1 | c.835G>C (p.Glu279Gln) c.418G>C (p.Glu140Gln) c.460G>C (p.Glu154Gln) c.502G>C (p.Glu168Gln) c.727G>C (p.Glu243Gln) | |
20 | g.17498941C>T | CA408317399 | BFSP1 | c.835G>A (p.Glu279Lys) c.418G>A (p.Glu140Lys) c.460G>A (p.Glu154Lys) c.502G>A (p.Glu168Lys) c.727G>A (p.Glu243Lys) | |
20 | g.17498942A= | CA2353084866 | BFSP1 | c.834T= (p.Ile278=) c.417T= (p.Ile139=) c.459T= (p.Ile153=) c.501T= (p.Ile167=) c.726T= (p.Ile242=) | |
20 | g.17498942A>C | CA9772196 | BFSP1 | c.834T>G (p.Ile278Met) c.417T>G (p.Ile139Met) c.459T>G (p.Ile153Met) c.501T>G (p.Ile167Met) c.726T>G (p.Ile242Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17498942A>G | CA509810269 | BFSP1 | c.834T>C (p.Ile278=) c.417T>C (p.Ile139=) c.459T>C (p.Ile153=) c.501T>C (p.Ile167=) c.726T>C (p.Ile242=) | |
20 | g.17498942A>T | CA509810268 | BFSP1 | c.834T>A (p.Ile278=) c.417T>A (p.Ile139=) c.459T>A (p.Ile153=) c.501T>A (p.Ile167=) c.726T>A (p.Ile242=) | |
20 | g.17498943A= | CA2353084867 | BFSP1 | c.833T= (p.Ile278=) c.416T= (p.Ile139=) c.458T= (p.Ile153=) c.500T= (p.Ile167=) c.725T= (p.Ile242=) | |
20 | g.17498943A>C | CA408317401 | BFSP1 | c.833T>G (p.Ile278Ser) c.416T>G (p.Ile139Ser) c.458T>G (p.Ile153Ser) c.500T>G (p.Ile167Ser) c.725T>G (p.Ile242Ser) | |
20 | g.17498943A>G | CA9772197 | BFSP1 | c.833T>C (p.Ile278Thr) c.416T>C (p.Ile139Thr) c.458T>C (p.Ile153Thr) c.500T>C (p.Ile167Thr) c.725T>C (p.Ile242Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.17498943A>T | CA408317402 | BFSP1 | c.833T>A (p.Ile278Asn) c.416T>A (p.Ile139Asn) c.458T>A (p.Ile153Asn) c.500T>A (p.Ile167Asn) c.725T>A (p.Ile242Asn) | |
20 | g.17498944T>A | CA408317403 | BFSP1 | c.832A>T (p.Ile278Phe) c.415A>T (p.Ile139Phe) c.457A>T (p.Ile153Phe) c.499A>T (p.Ile167Phe) c.724A>T (p.Ile242Phe) | |
20 | g.17498944T>C | CA408317404 | BFSP1 | c.832A>G (p.Ile278Val) c.415A>G (p.Ile139Val) c.457A>G (p.Ile153Val) c.499A>G (p.Ile167Val) c.724A>G (p.Ile242Val) | |
20 | g.17498944T>G | CA408317405 | BFSP1 | c.832A>C (p.Ile278Leu) c.415A>C (p.Ile139Leu) c.457A>C (p.Ile153Leu) c.499A>C (p.Ile167Leu) c.724A>C (p.Ile242Leu) | |
20 | g.17498945C>A | CA408317406 | BFSP1 | c.831G>T (p.Glu277Asp) c.414G>T (p.Glu138Asp) c.456G>T (p.Glu152Asp) c.498G>T (p.Glu166Asp) c.723G>T (p.Glu241Asp) | gnomAD v4 |
20 | g.17498945C>G | CA408317407 | BFSP1 | c.831G>C (p.Glu277Asp) c.414G>C (p.Glu138Asp) c.456G>C (p.Glu152Asp) c.498G>C (p.Glu166Asp) c.723G>C (p.Glu241Asp) | |
20 | g.17498945C>T | CA509810270 | BFSP1 | c.831G>A (p.Glu277=) c.414G>A (p.Glu138=) c.456G>A (p.Glu152=) c.498G>A (p.Glu166=) c.723G>A (p.Glu241=) | |
20 | g.17498946T>A | CA408317408 | BFSP1 | c.830A>T (p.Glu277Val) c.413A>T (p.Glu138Val) c.455A>T (p.Glu152Val) c.497A>T (p.Glu166Val) c.722A>T (p.Glu241Val) | |
20 | g.17498946T>C | CA408317409 | BFSP1 | c.830A>G (p.Glu277Gly) c.413A>G (p.Glu138Gly) c.455A>G (p.Glu152Gly) c.497A>G (p.Glu166Gly) c.722A>G (p.Glu241Gly) | |
20 | g.17498946T>G | CA408317410 | BFSP1 | c.830A>C (p.Glu277Ala) c.413A>C (p.Glu138Ala) c.455A>C (p.Glu152Ala) c.497A>C (p.Glu166Ala) c.722A>C (p.Glu241Ala) | |
20 | g.17498947C>A | CA408317411 | BFSP1 | c.829G>T (p.Glu277Ter) c.412G>T (p.Glu138Ter) c.454G>T (p.Glu152Ter) c.496G>T (p.Glu166Ter) c.721G>T (p.Glu241Ter) | |
20 | g.17498947C= | CA2353084868 | BFSP1 | c.829G= (p.Glu277=) c.412G= (p.Glu138=) c.454G= (p.Glu152=) c.496G= (p.Glu166=) c.721G= (p.Glu241=) | |
20 | g.17498947C>G | CA408317413 | BFSP1 | c.829G>C (p.Glu277Gln) c.412G>C (p.Glu138Gln) c.454G>C (p.Glu152Gln) c.496G>C (p.Glu166Gln) c.721G>C (p.Glu241Gln) | |
20 | g.17498947C>T | CA408317412 | BFSP1 | c.829G>A (p.Glu277Lys) c.412G>A (p.Glu138Lys) c.454G>A (p.Glu152Lys) c.496G>A (p.Glu166Lys) c.721G>A (p.Glu241Lys) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.17498948C>A | CA408317414 | BFSP1 | c.828G>T (p.Lys276Asn) c.411G>T (p.Lys137Asn) c.453G>T (p.Lys151Asn) c.495G>T (p.Lys165Asn) c.720G>T (p.Lys240Asn) | |
20 | g.17498948C= | CA2353084869 | BFSP1 | c.828G= (p.Lys276=) c.411G= (p.Lys137=) c.453G= (p.Lys151=) c.495G= (p.Lys165=) c.720G= (p.Lys240=) | |
20 | g.17498948C>G | CA408317415 | BFSP1 | c.828G>C (p.Lys276Asn) c.411G>C (p.Lys137Asn) c.453G>C (p.Lys151Asn) c.495G>C (p.Lys165Asn) c.720G>C (p.Lys240Asn) | |
20 | g.17498948C>T | CA509810271 | BFSP1 | c.828G>A (p.Lys276=) c.411G>A (p.Lys137=) c.453G>A (p.Lys151=) c.495G>A (p.Lys165=) c.720G>A (p.Lys240=) | dbSNP gnomAD v4 |
20 | g.17498949T>A | CA408317416 | BFSP1 | c.827A>T (p.Lys276Met) c.410A>T (p.Lys137Met) c.452A>T (p.Lys151Met) c.494A>T (p.Lys165Met) c.719A>T (p.Lys240Met) | |
20 | g.17498949T>C | CA408317417 | BFSP1 | c.827A>G (p.Lys276Arg) c.410A>G (p.Lys137Arg) c.452A>G (p.Lys151Arg) c.494A>G (p.Lys165Arg) c.719A>G (p.Lys240Arg) | |
20 | g.17498949T>G | CA408317418 | BFSP1 | c.827A>C (p.Lys276Thr) c.410A>C (p.Lys137Thr) c.452A>C (p.Lys151Thr) c.494A>C (p.Lys165Thr) c.719A>C (p.Lys240Thr) | |
20 | g.17498950T>A | CA408317421 | BFSP1 | c.826A>T (p.Lys276Ter) c.409A>T (p.Lys137Ter) c.451A>T (p.Lys151Ter) c.493A>T (p.Lys165Ter) c.718A>T (p.Lys240Ter) | |
20 | g.17498950T>C | CA408317420 | BFSP1 | c.826A>G (p.Lys276Glu) c.409A>G (p.Lys137Glu) c.451A>G (p.Lys151Glu) c.493A>G (p.Lys165Glu) c.718A>G (p.Lys240Glu) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.17498950T>G | CA408317419 | BFSP1 | c.826A>C (p.Lys276Gln) c.409A>C (p.Lys137Gln) c.451A>C (p.Lys151Gln) c.493A>C (p.Lys165Gln) c.718A>C (p.Lys240Gln) | |
20 | g.17498950T= | CA2353084870 | BFSP1 | c.826A= (p.Lys276=) c.409A= (p.Lys137=) c.451A= (p.Lys151=) c.493A= (p.Lys165=) c.718A= (p.Lys240=) | |
20 | g.17498951G>A | CA509810272 | BFSP1 | c.825C>T (p.Arg275=) c.408C>T (p.Arg136=) c.450C>T (p.Arg150=) c.492C>T (p.Arg164=) c.717C>T (p.Arg239=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.17498951G>C | CA509810273 | BFSP1 | c.825C>G (p.Arg275=) c.408C>G (p.Arg136=) c.450C>G (p.Arg150=) c.492C>G (p.Arg164=) c.717C>G (p.Arg239=) | |
20 | g.17498951G= | CA2353084871 | BFSP1 | c.825C= (p.Arg275=) c.408C= (p.Arg136=) c.450C= (p.Arg150=) c.492C= (p.Arg164=) c.717C= (p.Arg239=) | |
20 | g.17498951G>T | CA509810274 | BFSP1 | c.825C>A (p.Arg275=) c.408C>A (p.Arg136=) c.450C>A (p.Arg150=) c.492C>A (p.Arg164=) c.717C>A (p.Arg239=) | |
20 | g.17498952C>A | CA408317422 | BFSP1 | c.824G>T (p.Arg275Leu) c.407G>T (p.Arg136Leu) c.449G>T (p.Arg150Leu) c.491G>T (p.Arg164Leu) c.716G>T (p.Arg239Leu) | gnomAD v4 |
20 | g.17498952C= | CA2353084872 | BFSP1 | c.824G= (p.Arg275=) c.407G= (p.Arg136=) c.449G= (p.Arg150=) c.491G= (p.Arg164=) c.716G= (p.Arg239=) | |
20 | g.17498952C>G | CA408317423 | BFSP1 | c.824G>C (p.Arg275Pro) c.407G>C (p.Arg136Pro) c.449G>C (p.Arg150Pro) c.491G>C (p.Arg164Pro) c.716G>C (p.Arg239Pro) | |
20 | g.17498952C>T | CA9772198 | BFSP1 | c.824G>A (p.Arg275His) c.407G>A (p.Arg136His) c.449G>A (p.Arg150His) c.491G>A (p.Arg164His) c.716G>A (p.Arg239His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
20 | g.17498953G>A | CA9772199 | BFSP1 | c.823C>T (p.Arg275Cys) c.406C>T (p.Arg136Cys) c.448C>T (p.Arg150Cys) c.490C>T (p.Arg164Cys) c.715C>T (p.Arg239Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17498953G>C | CA408317424 | BFSP1 | c.823C>G (p.Arg275Gly) c.406C>G (p.Arg136Gly) c.448C>G (p.Arg150Gly) c.490C>G (p.Arg164Gly) c.715C>G (p.Arg239Gly) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.17498953G= | CA2353084873 | BFSP1 | c.823C= (p.Arg275=) c.406C= (p.Arg136=) c.448C= (p.Arg150=) c.490C= (p.Arg164=) c.715C= (p.Arg239=) | |
20 | g.17498953G>T | CA408317425 | BFSP1 | c.823C>A (p.Arg275Ser) c.406C>A (p.Arg136Ser) c.448C>A (p.Arg150Ser) c.490C>A (p.Arg164Ser) c.715C>A (p.Arg239Ser) | gnomAD v4 |
20 | g.17498954C>A | CA509810275 | BFSP1 | c.822G>T (p.Leu274=) c.405G>T (p.Leu135=) c.447G>T (p.Leu149=) c.489G>T (p.Leu163=) c.714G>T (p.Leu238=) | |
20 | g.17498954C= | CA2353084874 | BFSP1 | c.822G= (p.Leu274=) c.405G= (p.Leu135=) c.447G= (p.Leu149=) c.489G= (p.Leu163=) c.714G= (p.Leu238=) | |
20 | g.17498954C>G | CA509810276 | BFSP1 | c.822G>C (p.Leu274=) c.405G>C (p.Leu135=) c.447G>C (p.Leu149=) c.489G>C (p.Leu163=) c.714G>C (p.Leu238=) | |
20 | g.17498954C>T | CA509810277 | BFSP1 | c.822G>A (p.Leu274=) c.405G>A (p.Leu135=) c.447G>A (p.Leu149=) c.489G>A (p.Leu163=) c.714G>A (p.Leu238=) | dbSNP gnomAD v4 |
20 | g.17498955A>C | CA408317426 | BFSP1 | c.821T>G (p.Leu274Arg) c.404T>G (p.Leu135Arg) c.446T>G (p.Leu149Arg) c.488T>G (p.Leu163Arg) c.713T>G (p.Leu238Arg) | |
20 | g.17498955A>G | CA408317428 | BFSP1 | c.821T>C (p.Leu274Pro) c.404T>C (p.Leu135Pro) c.446T>C (p.Leu149Pro) c.488T>C (p.Leu163Pro) c.713T>C (p.Leu238Pro) | |
20 | g.17498955A>T | CA408317427 | BFSP1 | c.821T>A (p.Leu274Gln) c.404T>A (p.Leu135Gln) c.446T>A (p.Leu149Gln) c.488T>A (p.Leu163Gln) c.713T>A (p.Leu238Gln) | |
20 | g.17498956G>A | CA509810278 | BFSP1 | c.820C>T (p.Leu274=) c.403C>T (p.Leu135=) c.445C>T (p.Leu149=) c.487C>T (p.Leu163=) c.712C>T (p.Leu238=) | |
20 | g.17498956G>C | CA408317429 | BFSP1 | c.820C>G (p.Leu274Val) c.403C>G (p.Leu135Val) c.445C>G (p.Leu149Val) c.487C>G (p.Leu163Val) c.712C>G (p.Leu238Val) | |
20 | g.17498956G>T | CA408317430 | BFSP1 | c.820C>A (p.Leu274Met) c.403C>A (p.Leu135Met) c.445C>A (p.Leu149Met) c.487C>A (p.Leu163Met) c.712C>A (p.Leu238Met) | |
20 | g.17498957T>A | CA509810279 | BFSP1 | c.819A>T (p.Thr273=) c.402A>T (p.Thr134=) c.444A>T (p.Thr148=) c.486A>T (p.Thr162=) c.711A>T (p.Thr237=) | |
20 | g.17498957T>C | CA509810280 | BFSP1 | c.819A>G (p.Thr273=) c.402A>G (p.Thr134=) c.444A>G (p.Thr148=) c.486A>G (p.Thr162=) c.711A>G (p.Thr237=) | |
20 | g.17498957T>G | CA509810281 | BFSP1 | c.819A>C (p.Thr273=) c.402A>C (p.Thr134=) c.444A>C (p.Thr148=) c.486A>C (p.Thr162=) c.711A>C (p.Thr237=) | |
20 | g.17498958G>A | CA408317431 | BFSP1 | c.818C>T (p.Thr273Ile) c.401C>T (p.Thr134Ile) c.443C>T (p.Thr148Ile) c.485C>T (p.Thr162Ile) c.710C>T (p.Thr237Ile) | |
20 | g.17498958G>C | CA408317432 | BFSP1 | c.818C>G (p.Thr273Arg) c.401C>G (p.Thr134Arg) c.443C>G (p.Thr148Arg) c.485C>G (p.Thr162Arg) c.710C>G (p.Thr237Arg) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.17498958G= | CA2353084875 | BFSP1 | c.818C= (p.Thr273=) c.401C= (p.Thr134=) c.443C= (p.Thr148=) c.485C= (p.Thr162=) c.710C= (p.Thr237=) | |
20 | g.17498958G>T | CA408317433 | BFSP1 | c.818C>A (p.Thr273Lys) c.401C>A (p.Thr134Lys) c.443C>A (p.Thr148Lys) c.485C>A (p.Thr162Lys) c.710C>A (p.Thr237Lys) | |
20 | g.17498958_17498959insCC | CA2815428191 | BFSP1 | c.817_818insGG (p.Thr273ArgfsTer31) c.400_401insGG (p.Thr134ArgfsTer31) c.442_443insGG (p.Thr148ArgfsTer31) c.484_485insGG (p.Thr162ArgfsTer31) c.709_710insGG (p.Thr237ArgfsTer31) | |
20 | g.17498959T>A | CA408317434 | BFSP1 | c.817A>T (p.Thr273Ser) c.400A>T (p.Thr134Ser) c.442A>T (p.Thr148Ser) c.484A>T (p.Thr162Ser) c.709A>T (p.Thr237Ser) | |
20 | g.17498959T>C | CA408317435 | BFSP1 | c.817A>G (p.Thr273Ala) c.400A>G (p.Thr134Ala) c.442A>G (p.Thr148Ala) c.484A>G (p.Thr162Ala) c.709A>G (p.Thr237Ala) | gnomAD v4 |
20 | g.17498959T>G | CA408317436 | BFSP1 | c.817A>C (p.Thr273Pro) c.400A>C (p.Thr134Pro) c.442A>C (p.Thr148Pro) c.484A>C (p.Thr162Pro) c.709A>C (p.Thr237Pro) | |
20 | g.17498960C>A | CA408317437 | BFSP1 | c.816G>T (p.Glu272Asp) c.399G>T (p.Glu133Asp) c.441G>T (p.Glu147Asp) c.483G>T (p.Glu161Asp) c.708G>T (p.Glu236Asp) | |
20 | g.17498960C>G | CA408317438 | BFSP1 | c.816G>C (p.Glu272Asp) c.399G>C (p.Glu133Asp) c.441G>C (p.Glu147Asp) c.483G>C (p.Glu161Asp) c.708G>C (p.Glu236Asp) | |
20 | g.17498960C>T | CA509810282 | BFSP1 | c.816G>A (p.Glu272=) c.399G>A (p.Glu133=) c.441G>A (p.Glu147=) c.483G>A (p.Glu161=) c.708G>A (p.Glu236=) | |
20 | g.17498961T>A | CA408317441 | BFSP1 | c.815A>T (p.Glu272Val) c.398A>T (p.Glu133Val) c.440A>T (p.Glu147Val) c.482A>T (p.Glu161Val) c.707A>T (p.Glu236Val) | |
20 | g.17498961T>C | CA408317440 | BFSP1 | c.815A>G (p.Glu272Gly) c.398A>G (p.Glu133Gly) c.440A>G (p.Glu147Gly) c.482A>G (p.Glu161Gly) c.707A>G (p.Glu236Gly) | |
20 | g.17498961T>G | CA408317439 | BFSP1 | c.815A>C (p.Glu272Ala) c.398A>C (p.Glu133Ala) c.440A>C (p.Glu147Ala) c.482A>C (p.Glu161Ala) c.707A>C (p.Glu236Ala) | |
20 | g.17498961_17498962insGGAGTGGCGAGCTTTCATGTGCATGGCAAAGTTGAGAAAGGTAATTATTTGGAGAGGAAAAGAAATGAAGCCGAAAGGCAAAGACAAA | CA2815428193 | BFSP1 | c.814_815insTTTGTCTTTGCCTTTCGGCTTCATTTCTTTTCCTCTCCAAATAATTACCTTTCTCAACTTTGCCATGCACATGAAAGCTCGCCACTCC (p.Glu272ValfsTer15) c.397_398insTTTGTCTTTGCCTTTCGGCTTCATTTCTTTTCCTCTCCAAATAATTACCTTTCTCAACTTTGCCATGCACATGAAAGCTCGCCACTCC (p.Glu133ValfsTer15) c.439_440insTTTGTCTTTGCCTTTCGGCTTCATTTCTTTTCCTCTCCAAATAATTACCTTTCTCAACTTTGCCATGCACATGAAAGCTCGCCACTCC (p.Glu147ValfsTer15) c.481_482insTTTGTCTTTGCCTTTCGGCTTCATTTCTTTTCCTCTCCAAATAATTACCTTTCTCAACTTTGCCATGCACATGAAAGCTCGCCACTCC (p.Glu161ValfsTer15) c.706_707insTTTGTCTTTGCCTTTCGGCTTCATTTCTTTTCCTCTCCAAATAATTACCTTTCTCAACTTTGCCATGCACATGAAAGCTCGCCACTCC (p.Glu236ValfsTer15) | |
20 | g.17498962C>A | CA408317442 | BFSP1 | c.814G>T (p.Glu272Ter) c.397G>T (p.Glu133Ter) c.439G>T (p.Glu147Ter) c.481G>T (p.Glu161Ter) c.706G>T (p.Glu236Ter) | |
20 | g.17498962C>G | CA408317444 | BFSP1 | c.814G>C (p.Glu272Gln) c.397G>C (p.Glu133Gln) c.439G>C (p.Glu147Gln) c.481G>C (p.Glu161Gln) c.706G>C (p.Glu236Gln) | |
20 | g.17498962C>T | CA408317443 | BFSP1 | c.814G>A (p.Glu272Lys) c.397G>A (p.Glu133Lys) c.439G>A (p.Glu147Lys) c.481G>A (p.Glu161Lys) c.706G>A (p.Glu236Lys) | |
20 | g.17498963A= | CA2353084876 | BFSP1 | c.813T= (p.Ile271=) c.396T= (p.Ile132=) c.438T= (p.Ile146=) c.480T= (p.Ile160=) c.705T= (p.Ile235=) | |
20 | g.17498963A>C | CA408317445 | BFSP1 | c.813T>G (p.Ile271Met) c.396T>G (p.Ile132Met) c.438T>G (p.Ile146Met) c.480T>G (p.Ile160Met) c.705T>G (p.Ile235Met) | |
20 | g.17498963A>G | CA509810283 | BFSP1 | c.813T>C (p.Ile271=) c.396T>C (p.Ile132=) c.438T>C (p.Ile146=) c.480T>C (p.Ile160=) c.705T>C (p.Ile235=) | dbSNP gnomAD v4 |
20 | g.17498963A>T | CA509810284 | BFSP1 | c.813T>A (p.Ile271=) c.396T>A (p.Ile132=) c.438T>A (p.Ile146=) c.480T>A (p.Ile160=) c.705T>A (p.Ile235=) | |
20 | g.17498964A= | CA2353084877 | BFSP1 | c.812T= (p.Ile271=) c.395T= (p.Ile132=) c.437T= (p.Ile146=) c.479T= (p.Ile160=) c.704T= (p.Ile235=) | |
20 | g.17498964A>C | CA408317446 | BFSP1 | c.812T>G (p.Ile271Ser) c.395T>G (p.Ile132Ser) c.437T>G (p.Ile146Ser) c.479T>G (p.Ile160Ser) c.704T>G (p.Ile235Ser) | |
20 | g.17498964A>G | CA057949 | BFSP1 | c.812T>C (p.Ile271Thr) c.395T>C (p.Ile132Thr) c.437T>C (p.Ile146Thr) c.479T>C (p.Ile160Thr) c.704T>C (p.Ile235Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17498964A>T | CA408317447 | BFSP1 | c.812T>A (p.Ile271Asn) c.395T>A (p.Ile132Asn) c.437T>A (p.Ile146Asn) c.479T>A (p.Ile160Asn) c.704T>A (p.Ile235Asn) | |
20 | g.17498965T>A | CA408317448 | BFSP1 | c.811A>T (p.Ile271Phe) c.394A>T (p.Ile132Phe) c.436A>T (p.Ile146Phe) c.478A>T (p.Ile160Phe) c.703A>T (p.Ile235Phe) | |
20 | g.17498965T>C | CA408317449 | BFSP1 | c.811A>G (p.Ile271Val) c.394A>G (p.Ile132Val) c.436A>G (p.Ile146Val) c.478A>G (p.Ile160Val) c.703A>G (p.Ile235Val) | |
20 | g.17498965T>G | CA408317450 | BFSP1 | c.811A>C (p.Ile271Leu) c.394A>C (p.Ile132Leu) c.436A>C (p.Ile146Leu) c.478A>C (p.Ile160Leu) c.703A>C (p.Ile235Leu) | |
20 | g.17498966C>A | CA408317451 | BFSP1 | c.810G>T (p.Gln270His) c.393G>T (p.Gln131His) c.435G>T (p.Gln145His) c.477G>T (p.Gln159His) c.702G>T (p.Gln234His) | |
20 | g.17498966C>G | CA408317452 | BFSP1 | c.810G>C (p.Gln270His) c.393G>C (p.Gln131His) c.435G>C (p.Gln145His) c.477G>C (p.Gln159His) c.702G>C (p.Gln234His) | |
20 | g.17498966C>T | CA509810285 | BFSP1 | c.810G>A (p.Gln270=) c.393G>A (p.Gln131=) c.435G>A (p.Gln145=) c.477G>A (p.Gln159=) c.702G>A (p.Gln234=) | gnomAD v4 |
20 | g.17498967T>A | CA408317453 | BFSP1 | c.809A>T (p.Gln270Leu) c.392A>T (p.Gln131Leu) c.434A>T (p.Gln145Leu) c.476A>T (p.Gln159Leu) c.701A>T (p.Gln234Leu) | |
20 | g.17498967T>C | CA408317454 | BFSP1 | c.809A>G (p.Gln270Arg) c.392A>G (p.Gln131Arg) c.434A>G (p.Gln145Arg) c.476A>G (p.Gln159Arg) c.701A>G (p.Gln234Arg) | |
20 | g.17498967T>G | CA408317455 | BFSP1 | c.809A>C (p.Gln270Pro) c.392A>C (p.Gln131Pro) c.434A>C (p.Gln145Pro) c.476A>C (p.Gln159Pro) c.701A>C (p.Gln234Pro) | |
20 | g.17498968G>A | CA408317458 | BFSP1 | c.808C>T (p.Gln270Ter) c.391C>T (p.Gln131Ter) c.433C>T (p.Gln145Ter) c.475C>T (p.Gln159Ter) c.700C>T (p.Gln234Ter) | |
20 | g.17498968G>C | CA408317456 | BFSP1 | c.808C>G (p.Gln270Glu) c.391C>G (p.Gln131Glu) c.433C>G (p.Gln145Glu) c.475C>G (p.Gln159Glu) c.700C>G (p.Gln234Glu) | |
20 | g.17498968G>T | CA408317457 | BFSP1 | c.808C>A (p.Gln270Lys) c.391C>A (p.Gln131Lys) c.433C>A (p.Gln145Lys) c.475C>A (p.Gln159Lys) c.700C>A (p.Gln234Lys) | |
20 | g.17498969C>A | CA408317459 | BFSP1 | c.807G>T (p.Glu269Asp) c.390G>T (p.Glu130Asp) c.432G>T (p.Glu144Asp) c.474G>T (p.Glu158Asp) c.699G>T (p.Glu233Asp) | |
20 | g.17498969C>G | CA408317460 | BFSP1 | c.807G>C (p.Glu269Asp) c.390G>C (p.Glu130Asp) c.432G>C (p.Glu144Asp) c.474G>C (p.Glu158Asp) c.699G>C (p.Glu233Asp) | |
20 | g.17498969C>T | CA509810286 | BFSP1 | c.807G>A (p.Glu269=) c.390G>A (p.Glu130=) c.432G>A (p.Glu144=) c.474G>A (p.Glu158=) c.699G>A (p.Glu233=) | |
20 | g.17498970T>A | CA408317461 | BFSP1 | c.806A>T (p.Glu269Val) c.389A>T (p.Glu130Val) c.431A>T (p.Glu144Val) c.473A>T (p.Glu158Val) c.698A>T (p.Glu233Val) | |
20 | g.17498970T>C | CA408317462 | BFSP1 | c.806A>G (p.Glu269Gly) c.389A>G (p.Glu130Gly) c.431A>G (p.Glu144Gly) c.473A>G (p.Glu158Gly) c.698A>G (p.Glu233Gly) | |
20 | g.17498970T>G | CA408317463 | BFSP1 | c.806A>C (p.Glu269Ala) c.389A>C (p.Glu130Ala) c.431A>C (p.Glu144Ala) c.473A>C (p.Glu158Ala) c.698A>C (p.Glu233Ala) | |
20 | g.17498971C>A | CA408317464 | BFSP1 | c.805G>T (p.Glu269Ter) c.388G>T (p.Glu130Ter) c.430G>T (p.Glu144Ter) c.472G>T (p.Glu158Ter) c.697G>T (p.Glu233Ter) | dbSNP |
20 | g.17498971C= | CA2353084878 | BFSP1 | c.805G= (p.Glu269=) c.388G= (p.Glu130=) c.430G= (p.Glu144=) c.472G= (p.Glu158=) c.697G= (p.Glu233=) | |
20 | g.17498971C>G | CA408317465 | BFSP1 | c.805G>C (p.Glu269Gln) c.388G>C (p.Glu130Gln) c.430G>C (p.Glu144Gln) c.472G>C (p.Glu158Gln) c.697G>C (p.Glu233Gln) | |
20 | g.17498971C>T | CA9772200 | BFSP1 | c.805G>A (p.Glu269Lys) c.388G>A (p.Glu130Lys) c.430G>A (p.Glu144Lys) c.472G>A (p.Glu158Lys) c.697G>A (p.Glu233Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.17498972G>A | CA9772201 | BFSP1 | c.804C>T (p.Asn268=) c.387C>T (p.Asn129=) c.429C>T (p.Asn143=) c.471C>T (p.Asn157=) c.696C>T (p.Asn232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17498972G>C | CA408317466 | BFSP1 | c.804C>G (p.Asn268Lys) c.387C>G (p.Asn129Lys) c.429C>G (p.Asn143Lys) c.471C>G (p.Asn157Lys) c.696C>G (p.Asn232Lys) | |
20 | g.17498972G= | CA2353084879 | BFSP1 | c.804C= (p.Asn268=) c.387C= (p.Asn129=) c.429C= (p.Asn143=) c.471C= (p.Asn157=) c.696C= (p.Asn232=) | |
20 | g.17498972G>T | CA408317467 | BFSP1 | c.804C>A (p.Asn268Lys) c.387C>A (p.Asn129Lys) c.429C>A (p.Asn143Lys) c.471C>A (p.Asn157Lys) c.696C>A (p.Asn232Lys) | |
20 | g.17498973T>A | CA408317470 | BFSP1 | c.803A>T (p.Asn268Ile) c.386A>T (p.Asn129Ile) c.428A>T (p.Asn143Ile) c.470A>T (p.Asn157Ile) c.695A>T (p.Asn232Ile) | |
20 | g.17498973T>C | CA408317469 | BFSP1 | c.803A>G (p.Asn268Ser) c.386A>G (p.Asn129Ser) c.428A>G (p.Asn143Ser) c.470A>G (p.Asn157Ser) c.695A>G (p.Asn232Ser) | |
20 | g.17498973T>G | CA408317468 | BFSP1 | c.803A>C (p.Asn268Thr) c.386A>C (p.Asn129Thr) c.428A>C (p.Asn143Thr) c.470A>C (p.Asn157Thr) c.695A>C (p.Asn232Thr) |