Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.17497089_17500424delCA645293918BFSP1c.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
20g.17498865T>ACA408317245BFSP1c.911A>T (p.Asn304Ile)
c.494A>T (p.Asn165Ile)
c.536A>T (p.Asn179Ile)
c.578A>T (p.Asn193Ile)
c.803A>T (p.Asn268Ile)
20g.17498865T>CCA408317246BFSP1c.911A>G (p.Asn304Ser)
c.494A>G (p.Asn165Ser)
c.536A>G (p.Asn179Ser)
c.578A>G (p.Asn193Ser)
c.803A>G (p.Asn268Ser)
20g.17498865T>GCA408317247BFSP1c.911A>C (p.Asn304Thr)
c.494A>C (p.Asn165Thr)
c.536A>C (p.Asn179Thr)
c.578A>C (p.Asn193Thr)
c.803A>C (p.Asn268Thr)
20g.17498866T>ACA408317248BFSP1c.910A>T (p.Asn304Tyr)
c.493A>T (p.Asn165Tyr)
c.535A>T (p.Asn179Tyr)
c.577A>T (p.Asn193Tyr)
c.802A>T (p.Asn268Tyr)
20g.17498866T>CCA9772177BFSP1c.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
20g.17498866T>GCA408317249BFSP1c.910A>C (p.Asn304His)
c.493A>C (p.Asn165His)
c.535A>C (p.Asn179His)
c.577A>C (p.Asn193His)
c.802A>C (p.Asn268His)
20g.17498866T=CA2353084834BFSP1c.910A= (p.Asn304=)
c.493A= (p.Asn165=)
c.535A= (p.Asn179=)
c.577A= (p.Asn193=)
c.802A= (p.Asn268=)
20g.17498867C>ACA408317250BFSP1c.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
20g.17498867C>GCA408317251BFSP1c.909G>C (p.Lys303Asn)
c.492G>C (p.Lys164Asn)
c.534G>C (p.Lys178Asn)
c.576G>C (p.Lys192Asn)
c.801G>C (p.Lys267Asn)
20g.17498867C>TCA509810158BFSP1c.909G>A (p.Lys303=)
c.492G>A (p.Lys164=)
c.534G>A (p.Lys178=)
c.576G>A (p.Lys192=)
c.801G>A (p.Lys267=)
20g.17498868T>ACA408317252BFSP1c.908A>T (p.Lys303Met)
c.491A>T (p.Lys164Met)
c.533A>T (p.Lys178Met)
c.575A>T (p.Lys192Met)
c.800A>T (p.Lys267Met)
20g.17498868T>CCA408317253BFSP1c.908A>G (p.Lys303Arg)
c.491A>G (p.Lys164Arg)
c.533A>G (p.Lys178Arg)
c.575A>G (p.Lys192Arg)
c.800A>G (p.Lys267Arg)
20g.17498868T>GCA408317254BFSP1c.908A>C (p.Lys303Thr)
c.491A>C (p.Lys164Thr)
c.533A>C (p.Lys178Thr)
c.575A>C (p.Lys192Thr)
c.800A>C (p.Lys267Thr)
20g.17498869T>ACA408317255BFSP1c.907A>T (p.Lys303Ter)
c.490A>T (p.Lys164Ter)
c.532A>T (p.Lys178Ter)
c.574A>T (p.Lys192Ter)
c.799A>T (p.Lys267Ter)
20g.17498869T>CCA408317256BFSP1c.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
20g.17498869T>GCA408317257BFSP1c.907A>C (p.Lys303Gln)
c.490A>C (p.Lys164Gln)
c.532A>C (p.Lys178Gln)
c.574A>C (p.Lys192Gln)
c.799A>C (p.Lys267Gln)
20g.17498869T=CA2353084835BFSP1c.907A= (p.Lys303=)
c.490A= (p.Lys164=)
c.532A= (p.Lys178=)
c.574A= (p.Lys192=)
c.799A= (p.Lys267=)
20g.17498870C>ACA509810160BFSP1c.906G>T (p.Leu302=)
c.489G>T (p.Leu163=)
c.531G>T (p.Leu177=)
c.573G>T (p.Leu191=)
c.798G>T (p.Leu266=)
20g.17498870C>GCA509810161BFSP1c.906G>C (p.Leu302=)
c.489G>C (p.Leu163=)
c.531G>C (p.Leu177=)
c.573G>C (p.Leu191=)
c.798G>C (p.Leu266=)
20g.17498870C>TCA509810162BFSP1c.906G>A (p.Leu302=)
c.489G>A (p.Leu163=)
c.531G>A (p.Leu177=)
c.573G>A (p.Leu191=)
c.798G>A (p.Leu266=)
20g.17498871A>CCA408317258BFSP1c.905T>G (p.Leu302Arg)
c.488T>G (p.Leu163Arg)
c.530T>G (p.Leu177Arg)
c.572T>G (p.Leu191Arg)
c.797T>G (p.Leu266Arg)
20g.17498871A>GCA408317259BFSP1c.905T>C (p.Leu302Pro)
c.488T>C (p.Leu163Pro)
c.530T>C (p.Leu177Pro)
c.572T>C (p.Leu191Pro)
c.797T>C (p.Leu266Pro)
20g.17498871A>TCA408317260BFSP1c.905T>A (p.Leu302Gln)
c.488T>A (p.Leu163Gln)
c.530T>A (p.Leu177Gln)
c.572T>A (p.Leu191Gln)
c.797T>A (p.Leu266Gln)
20g.17498872G>ACA509810163BFSP1c.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
20g.17498872G>CCA408317261BFSP1c.904C>G (p.Leu302Val)
c.487C>G (p.Leu163Val)
c.529C>G (p.Leu177Val)
c.571C>G (p.Leu191Val)
c.796C>G (p.Leu266Val)
20g.17498872G=CA2353084836BFSP1c.904C= (p.Leu302=)
c.487C= (p.Leu163=)
c.529C= (p.Leu177=)
c.571C= (p.Leu191=)
c.796C= (p.Leu266=)
20g.17498872G>TCA408317262BFSP1c.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
20g.17498873G>ACA509810164BFSP1c.903C>T (p.Thr301=)
c.486C>T (p.Thr162=)
c.528C>T (p.Thr176=)
c.570C>T (p.Thr190=)
c.795C>T (p.Thr265=)
20g.17498873G>CCA509810167BFSP1c.903C>G (p.Thr301=)
c.486C>G (p.Thr162=)
c.528C>G (p.Thr176=)
c.570C>G (p.Thr190=)
c.795C>G (p.Thr265=)
20g.17498873G>TCA509810166BFSP1c.903C>A (p.Thr301=)
c.486C>A (p.Thr162=)
c.528C>A (p.Thr176=)
c.570C>A (p.Thr190=)
c.795C>A (p.Thr265=)
20g.17498874G>ACA408317263BFSP1c.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
20g.17498874G>CCA408317264BFSP1c.902C>G (p.Thr301Ser)
c.485C>G (p.Thr162Ser)
c.527C>G (p.Thr176Ser)
c.569C>G (p.Thr190Ser)
c.794C>G (p.Thr265Ser)
20g.17498874G=CA2353084837BFSP1c.902C= (p.Thr301=)
c.485C= (p.Thr162=)
c.527C= (p.Thr176=)
c.569C= (p.Thr190=)
c.794C= (p.Thr265=)
20g.17498874G>TCA9772178BFSP1c.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
20g.17498875T>ACA408317265BFSP1c.901A>T (p.Thr301Ser)
c.484A>T (p.Thr162Ser)
c.526A>T (p.Thr176Ser)
c.568A>T (p.Thr190Ser)
c.793A>T (p.Thr265Ser)
20g.17498875T>CCA408317266BFSP1c.901A>G (p.Thr301Ala)
c.484A>G (p.Thr162Ala)
c.526A>G (p.Thr176Ala)
c.568A>G (p.Thr190Ala)
c.793A>G (p.Thr265Ala)
20g.17498875T>GCA408317267BFSP1c.901A>C (p.Thr301Pro)
c.484A>C (p.Thr162Pro)
c.526A>C (p.Thr176Pro)
c.568A>C (p.Thr190Pro)
c.793A>C (p.Thr265Pro)
20g.17498876T>ACA408317268BFSP1c.900A>T (p.Gln300His)
c.483A>T (p.Gln161His)
c.525A>T (p.Gln175His)
c.567A>T (p.Gln189His)
c.792A>T (p.Gln264His)
20g.17498876T>CCA509810169BFSP1c.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
20g.17498876T>GCA408317269BFSP1c.900A>C (p.Gln300His)
c.483A>C (p.Gln161His)
c.525A>C (p.Gln175His)
c.567A>C (p.Gln189His)
c.792A>C (p.Gln264His)
20g.17498877T>ACA408317270BFSP1c.899A>T (p.Gln300Leu)
c.482A>T (p.Gln161Leu)
c.524A>T (p.Gln175Leu)
c.566A>T (p.Gln189Leu)
c.791A>T (p.Gln264Leu)
20g.17498877T>CCA408317271BFSP1c.899A>G (p.Gln300Arg)
c.482A>G (p.Gln161Arg)
c.524A>G (p.Gln175Arg)
c.566A>G (p.Gln189Arg)
c.791A>G (p.Gln264Arg)
20g.17498877T>GCA408317272BFSP1c.899A>C (p.Gln300Pro)
c.482A>C (p.Gln161Pro)
c.524A>C (p.Gln175Pro)
c.566A>C (p.Gln189Pro)
c.791A>C (p.Gln264Pro)
20g.17498878G>ACA408317273BFSP1c.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
20g.17498878G>CCA408317274BFSP1c.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
20g.17498878G=CA2353084838BFSP1c.898C= (p.Gln300=)
c.481C= (p.Gln161=)
c.523C= (p.Gln175=)
c.565C= (p.Gln189=)
c.790C= (p.Gln264=)
20g.17498878G>TCA408317275BFSP1c.898C>A (p.Gln300Lys)
c.481C>A (p.Gln161Lys)
c.523C>A (p.Gln175Lys)
c.565C>A (p.Gln189Lys)
c.790C>A (p.Gln264Lys)
20g.17498879C>ACA408317277BFSP1c.897G>T (p.Gln299His)
c.480G>T (p.Gln160His)
c.522G>T (p.Gln174His)
c.564G>T (p.Gln188His)
c.789G>T (p.Gln263His)
20g.17498879C>GCA408317276BFSP1c.897G>C (p.Gln299His)
c.480G>C (p.Gln160His)
c.522G>C (p.Gln174His)
c.564G>C (p.Gln188His)
c.789G>C (p.Gln263His)
20g.17498879C>TCA509810172BFSP1c.897G>A (p.Gln299=)
c.480G>A (p.Gln160=)
c.522G>A (p.Gln174=)
c.564G>A (p.Gln188=)
c.789G>A (p.Gln263=)
20g.17498880T>ACA408317278BFSP1c.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
20g.17498880T>CCA9772179BFSP1c.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
20g.17498880T>GCA312242223BFSP1c.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
20g.17498880T=CA2353084839BFSP1c.896A= (p.Gln299=)
c.479A= (p.Gln160=)
c.521A= (p.Gln174=)
c.563A= (p.Gln188=)
c.788A= (p.Gln263=)
20g.17498881G>ACA408317279BFSP1c.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
20g.17498881G>CCA408317281BFSP1c.895C>G (p.Gln299Glu)
c.478C>G (p.Gln160Glu)
c.520C>G (p.Gln174Glu)
c.562C>G (p.Gln188Glu)
c.787C>G (p.Gln263Glu)
20g.17498881G>TCA408317280BFSP1c.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
20g.17498882G>ACA509810179BFSP1c.894C>T (p.Ala298=)
c.477C>T (p.Ala159=)
c.519C>T (p.Ala173=)
c.561C>T (p.Ala187=)
c.786C>T (p.Ala262=)
20g.17498882G>CCA509810177BFSP1c.894C>G (p.Ala298=)
c.477C>G (p.Ala159=)
c.519C>G (p.Ala173=)
c.561C>G (p.Ala187=)
c.786C>G (p.Ala262=)
20g.17498882G>TCA509810178BFSP1c.894C>A (p.Ala298=)
c.477C>A (p.Ala159=)
c.519C>A (p.Ala173=)
c.561C>A (p.Ala187=)
c.786C>A (p.Ala262=)
20g.17498883G>ACA408317282BFSP1c.893C>T (p.Ala298Val)
c.476C>T (p.Ala159Val)
c.518C>T (p.Ala173Val)
c.560C>T (p.Ala187Val)
c.785C>T (p.Ala262Val)
20g.17498883G>CCA408317283BFSP1c.893C>G (p.Ala298Gly)
c.476C>G (p.Ala159Gly)
c.518C>G (p.Ala173Gly)
c.560C>G (p.Ala187Gly)
c.785C>G (p.Ala262Gly)
20g.17498883G>TCA408317284BFSP1c.893C>A (p.Ala298Asp)
c.476C>A (p.Ala159Asp)
c.518C>A (p.Ala173Asp)
c.560C>A (p.Ala187Asp)
c.785C>A (p.Ala262Asp)
20g.17498884C>ACA408317285BFSP1c.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
20g.17498884C=CA2353084840BFSP1c.892G= (p.Ala298=)
c.475G= (p.Ala159=)
c.517G= (p.Ala173=)
c.559G= (p.Ala187=)
c.784G= (p.Ala262=)
20g.17498884C>GCA408317286BFSP1c.892G>C (p.Ala298Pro)
c.475G>C (p.Ala159Pro)
c.517G>C (p.Ala173Pro)
c.559G>C (p.Ala187Pro)
c.784G>C (p.Ala262Pro)
20g.17498884C>TCA9772180BFSP1c.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
20g.17498885G>ACA9772181BFSP1c.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
20g.17498885G>CCA509810183BFSP1c.891C>G (p.Val297=)
c.474C>G (p.Val158=)
c.516C>G (p.Val172=)
c.558C>G (p.Val186=)
c.783C>G (p.Val261=)
20g.17498885G=CA2353084841BFSP1c.891C= (p.Val297=)
c.474C= (p.Val158=)
c.516C= (p.Val172=)
c.558C= (p.Val186=)
c.783C= (p.Val261=)
20g.17498885G>TCA509810184BFSP1c.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
20g.17498886A=CA2353084842BFSP1c.890T= (p.Val297=)
c.473T= (p.Val158=)
c.515T= (p.Val172=)
c.557T= (p.Val186=)
c.782T= (p.Val261=)
20g.17498886A>CCA408317287BFSP1c.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
20g.17498886A>GCA9772182BFSP1c.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
20g.17498886A>TCA408317288BFSP1c.890T>A (p.Val297Asp)
c.473T>A (p.Val158Asp)
c.515T>A (p.Val172Asp)
c.557T>A (p.Val186Asp)
c.782T>A (p.Val261Asp)
20g.17498887C>ACA408317289BFSP1c.889G>T (p.Val297Phe)
c.472G>T (p.Val158Phe)
c.514G>T (p.Val172Phe)
c.556G>T (p.Val186Phe)
c.781G>T (p.Val261Phe)
20g.17498887C>GCA408317290BFSP1c.889G>C (p.Val297Leu)
c.472G>C (p.Val158Leu)
c.514G>C (p.Val172Leu)
c.556G>C (p.Val186Leu)
c.781G>C (p.Val261Leu)
20g.17498887C>TCA408317291BFSP1c.889G>A (p.Val297Ile)
c.472G>A (p.Val158Ile)
c.514G>A (p.Val172Ile)
c.556G>A (p.Val186Ile)
c.781G>A (p.Val261Ile)
20g.17498888C>ACA509810187BFSP1c.888G>T (p.Ala296=)
c.471G>T (p.Ala157=)
c.513G>T (p.Ala171=)
c.555G>T (p.Ala185=)
c.780G>T (p.Ala260=)
20g.17498888C=CA2353084843BFSP1c.888G= (p.Ala296=)
c.471G= (p.Ala157=)
c.513G= (p.Ala171=)
c.555G= (p.Ala185=)
c.780G= (p.Ala260=)
20g.17498888C>GCA509810186BFSP1c.888G>C (p.Ala296=)
c.471G>C (p.Ala157=)
c.513G>C (p.Ala171=)
c.555G>C (p.Ala185=)
c.780G>C (p.Ala260=)
20g.17498888C>TCA9772183BFSP1c.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
20g.17498889G>ACA9772184BFSP1c.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
20g.17498889G>CCA408317293BFSP1c.887C>G (p.Ala296Gly)
c.470C>G (p.Ala157Gly)
c.512C>G (p.Ala171Gly)
c.554C>G (p.Ala185Gly)
c.779C>G (p.Ala260Gly)
20g.17498889G=CA2353084844BFSP1c.887C= (p.Ala296=)
c.470C= (p.Ala157=)
c.512C= (p.Ala171=)
c.554C= (p.Ala185=)
c.779C= (p.Ala260=)
20g.17498889G>TCA408317292BFSP1c.887C>A (p.Ala296Glu)
c.470C>A (p.Ala157Glu)
c.512C>A (p.Ala171Glu)
c.554C>A (p.Ala185Glu)
c.779C>A (p.Ala260Glu)
20g.17498890C>ACA408317294BFSP1c.886G>T (p.Ala296Ser)
c.469G>T (p.Ala157Ser)
c.511G>T (p.Ala171Ser)
c.553G>T (p.Ala185Ser)
c.778G>T (p.Ala260Ser)
20g.17498890C>GCA408317295BFSP1c.886G>C (p.Ala296Pro)
c.469G>C (p.Ala157Pro)
c.511G>C (p.Ala171Pro)
c.553G>C (p.Ala185Pro)
c.778G>C (p.Ala260Pro)
20g.17498890C>TCA408317296BFSP1c.886G>A (p.Ala296Thr)
c.469G>A (p.Ala157Thr)
c.511G>A (p.Ala171Thr)
c.553G>A (p.Ala185Thr)
c.778G>A (p.Ala260Thr)
20g.17498891C>ACA509810189BFSP1c.885G>T (p.Leu295=)
c.468G>T (p.Leu156=)
c.510G>T (p.Leu170=)
c.552G>T (p.Leu184=)
c.777G>T (p.Leu259=)
20g.17498891C>GCA509810190BFSP1c.885G>C (p.Leu295=)
c.468G>C (p.Leu156=)
c.510G>C (p.Leu170=)
c.552G>C (p.Leu184=)
c.777G>C (p.Leu259=)
20g.17498891C>TCA509810191BFSP1c.885G>A (p.Leu295=)
c.468G>A (p.Leu156=)
c.510G>A (p.Leu170=)
c.552G>A (p.Leu184=)
c.777G>A (p.Leu259=)
20g.17498892A>CCA408317297BFSP1c.884T>G (p.Leu295Arg)
c.467T>G (p.Leu156Arg)
c.509T>G (p.Leu170Arg)
c.551T>G (p.Leu184Arg)
c.776T>G (p.Leu259Arg)
20g.17498892A>GCA408317298BFSP1c.884T>C (p.Leu295Pro)
c.467T>C (p.Leu156Pro)
c.509T>C (p.Leu170Pro)
c.551T>C (p.Leu184Pro)
c.776T>C (p.Leu259Pro)
20g.17498892A>TCA408317299BFSP1c.884T>A (p.Leu295Gln)
c.467T>A (p.Leu156Gln)
c.509T>A (p.Leu170Gln)
c.551T>A (p.Leu184Gln)
c.776T>A (p.Leu259Gln)
20g.17498893G>ACA509810193BFSP1c.883C>T (p.Leu295=)
c.466C>T (p.Leu156=)
c.508C>T (p.Leu170=)
c.550C>T (p.Leu184=)
c.775C>T (p.Leu259=)
20g.17498893G>CCA408317300BFSP1c.883C>G (p.Leu295Val)
c.466C>G (p.Leu156Val)
c.508C>G (p.Leu170Val)
c.550C>G (p.Leu184Val)
c.775C>G (p.Leu259Val)
20g.17498893G>TCA408317301BFSP1c.883C>A (p.Leu295Met)
c.466C>A (p.Leu156Met)
c.508C>A (p.Leu170Met)
c.550C>A (p.Leu184Met)
c.775C>A (p.Leu259Met)
20g.17498894C>ACA408317302BFSP1c.882G>T (p.Gln294His)
c.465G>T (p.Gln155His)
c.507G>T (p.Gln169His)
c.549G>T (p.Gln183His)
c.774G>T (p.Gln258His)
20g.17498894C>GCA408317303BFSP1c.882G>C (p.Gln294His)
c.465G>C (p.Gln155His)
c.507G>C (p.Gln169His)
c.549G>C (p.Gln183His)
c.774G>C (p.Gln258His)
20g.17498894C>TCA509810195BFSP1c.882G>A (p.Gln294=)
c.465G>A (p.Gln155=)
c.507G>A (p.Gln169=)
c.549G>A (p.Gln183=)
c.774G>A (p.Gln258=)
20g.17498895T>ACA408317304BFSP1c.881A>T (p.Gln294Leu)
c.464A>T (p.Gln155Leu)
c.506A>T (p.Gln169Leu)
c.548A>T (p.Gln183Leu)
c.773A>T (p.Gln258Leu)
20g.17498895T>CCA408317306BFSP1c.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
20g.17498895T>GCA408317305BFSP1c.881A>C (p.Gln294Pro)
c.464A>C (p.Gln155Pro)
c.506A>C (p.Gln169Pro)
c.548A>C (p.Gln183Pro)
c.773A>C (p.Gln258Pro)
20g.17498895T=CA2353084845BFSP1c.881A= (p.Gln294=)
c.464A= (p.Gln155=)
c.506A= (p.Gln169=)
c.548A= (p.Gln183=)
c.773A= (p.Gln258=)
20g.17498896G>ACA408317307BFSP1c.880C>T (p.Gln294Ter)
c.463C>T (p.Gln155Ter)
c.505C>T (p.Gln169Ter)
c.547C>T (p.Gln183Ter)
c.772C>T (p.Gln258Ter)
20g.17498896G>CCA408317308BFSP1c.880C>G (p.Gln294Glu)
c.463C>G (p.Gln155Glu)
c.505C>G (p.Gln169Glu)
c.547C>G (p.Gln183Glu)
c.772C>G (p.Gln258Glu)
20g.17498896G>TCA408317309BFSP1c.880C>A (p.Gln294Lys)
c.463C>A (p.Gln155Lys)
c.505C>A (p.Gln169Lys)
c.547C>A (p.Gln183Lys)
c.772C>A (p.Gln258Lys)
20g.17498897C>ACA509810199BFSP1c.879G>T (p.Arg293=)
c.462G>T (p.Arg154=)
c.504G>T (p.Arg168=)
c.546G>T (p.Arg182=)
c.771G>T (p.Arg257=)
20g.17498897C=CA2353084846BFSP1c.879G= (p.Arg293=)
c.462G= (p.Arg154=)
c.504G= (p.Arg168=)
c.546G= (p.Arg182=)
c.771G= (p.Arg257=)
20g.17498897C>GCA509810200BFSP1c.879G>C (p.Arg293=)
c.462G>C (p.Arg154=)
c.504G>C (p.Arg168=)
c.546G>C (p.Arg182=)
c.771G>C (p.Arg257=)
20g.17498897C>TCA9772185BFSP1c.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
20g.17498898C>ACA408317310BFSP1c.878G>T (p.Arg293Leu)
c.461G>T (p.Arg154Leu)
c.503G>T (p.Arg168Leu)
c.545G>T (p.Arg182Leu)
c.770G>T (p.Arg257Leu)
20g.17498898C=CA2353084847BFSP1c.878G= (p.Arg293=)
c.461G= (p.Arg154=)
c.503G= (p.Arg168=)
c.545G= (p.Arg182=)
c.770G= (p.Arg257=)
20g.17498898C>GCA408317311BFSP1c.878G>C (p.Arg293Pro)
c.461G>C (p.Arg154Pro)
c.503G>C (p.Arg168Pro)
c.545G>C (p.Arg182Pro)
c.770G>C (p.Arg257Pro)
20g.17498898C>TCA9772186BFSP1c.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
20g.17498899G>ACA9772187BFSP1c.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
20g.17498899G>CCA408317312BFSP1c.877C>G (p.Arg293Gly)
c.460C>G (p.Arg154Gly)
c.502C>G (p.Arg168Gly)
c.544C>G (p.Arg182Gly)
c.769C>G (p.Arg257Gly)
20g.17498899G=CA2353084848BFSP1c.877C= (p.Arg293=)
c.460C= (p.Arg154=)
c.502C= (p.Arg168=)
c.544C= (p.Arg182=)
c.769C= (p.Arg257=)
20g.17498899G>TCA509810204BFSP1c.877C>A (p.Arg293=)
c.460C>A (p.Arg154=)
c.502C>A (p.Arg168=)
c.544C>A (p.Arg182=)
c.769C>A (p.Arg257=)
20g.17498900G>ACA509810205BFSP1c.876C>T (p.Cys292=)
c.459C>T (p.Cys153=)
c.501C>T (p.Cys167=)
c.543C>T (p.Cys181=)
c.768C>T (p.Cys256=)
20g.17498900G>CCA408317313BFSP1c.876C>G (p.Cys292Trp)
c.459C>G (p.Cys153Trp)
c.501C>G (p.Cys167Trp)
c.543C>G (p.Cys181Trp)
c.768C>G (p.Cys256Trp)
20g.17498900G>TCA408317314BFSP1c.876C>A (p.Cys292Ter)
c.459C>A (p.Cys153Ter)
c.501C>A (p.Cys167Ter)
c.543C>A (p.Cys181Ter)
c.768C>A (p.Cys256Ter)
20g.17498901C>ACA408317316BFSP1c.875G>T (p.Cys292Phe)
c.458G>T (p.Cys153Phe)
c.500G>T (p.Cys167Phe)
c.542G>T (p.Cys181Phe)
c.767G>T (p.Cys256Phe)
20g.17498901C=CA2353084849BFSP1c.875G= (p.Cys292=)
c.458G= (p.Cys153=)
c.500G= (p.Cys167=)
c.542G= (p.Cys181=)
c.767G= (p.Cys256=)
20g.17498901C>GCA408317315BFSP1c.875G>C (p.Cys292Ser)
c.458G>C (p.Cys153Ser)
c.500G>C (p.Cys167Ser)
c.542G>C (p.Cys181Ser)
c.767G>C (p.Cys256Ser)
20g.17498901C>TCA9772188BFSP1c.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
20g.17498902A=CA2353084850BFSP1c.874T= (p.Cys292=)
c.457T= (p.Cys153=)
c.499T= (p.Cys167=)
c.541T= (p.Cys181=)
c.766T= (p.Cys256=)
20g.17498902A>CCA408317317BFSP1c.874T>G (p.Cys292Gly)
c.457T>G (p.Cys153Gly)
c.499T>G (p.Cys167Gly)
c.541T>G (p.Cys181Gly)
c.766T>G (p.Cys256Gly)
20g.17498902A>GCA9772189BFSP1c.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
20g.17498902A>TCA408317318BFSP1c.874T>A (p.Cys292Ser)
c.457T>A (p.Cys153Ser)
c.499T>A (p.Cys167Ser)
c.541T>A (p.Cys181Ser)
c.766T>A (p.Cys256Ser)
20g.17498903G>ACA509810207BFSP1c.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
20g.17498903G>CCA408317319BFSP1c.873C>G (p.Asp291Glu)
c.456C>G (p.Asp152Glu)
c.498C>G (p.Asp166Glu)
c.540C>G (p.Asp180Glu)
c.765C>G (p.Asp255Glu)
20g.17498903G=CA2353084851BFSP1c.873C= (p.Asp291=)
c.456C= (p.Asp152=)
c.498C= (p.Asp166=)
c.540C= (p.Asp180=)
c.765C= (p.Asp255=)
20g.17498903G>TCA408317320BFSP1c.873C>A (p.Asp291Glu)
c.456C>A (p.Asp152Glu)
c.498C>A (p.Asp166Glu)
c.540C>A (p.Asp180Glu)
c.765C>A (p.Asp255Glu)
20g.17498904T>ACA408317321BFSP1c.872A>T (p.Asp291Val)
c.455A>T (p.Asp152Val)
c.497A>T (p.Asp166Val)
c.539A>T (p.Asp180Val)
c.764A>T (p.Asp255Val)
20g.17498904T>CCA408317322BFSP1c.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
20g.17498904T>GCA408317323BFSP1c.872A>C (p.Asp291Ala)
c.455A>C (p.Asp152Ala)
c.497A>C (p.Asp166Ala)
c.539A>C (p.Asp180Ala)
c.764A>C (p.Asp255Ala)
20g.17498905C>ACA408317324BFSP1c.871G>T (p.Asp291Tyr)
c.454G>T (p.Asp152Tyr)
c.496G>T (p.Asp166Tyr)
c.538G>T (p.Asp180Tyr)
c.763G>T (p.Asp255Tyr)
20g.17498905C=CA2353084852BFSP1c.871G= (p.Asp291=)
c.454G= (p.Asp152=)
c.496G= (p.Asp166=)
c.538G= (p.Asp180=)
c.763G= (p.Asp255=)
20g.17498905C>GCA408317325BFSP1c.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
20g.17498905C>TCA9772190BFSP1c.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
20g.17498906G>ACA9772191BFSP1c.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
20g.17498906G>CCA408317326BFSP1c.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
20g.17498906G=CA2353084853BFSP1c.870C= (p.Tyr290=)
c.453C= (p.Tyr151=)
c.495C= (p.Tyr165=)
c.537C= (p.Tyr179=)
c.762C= (p.Tyr254=)
20g.17498906G>TCA312242267BFSP1c.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
20g.17498907T>ACA408317327BFSP1c.869A>T (p.Tyr290Phe)
c.452A>T (p.Tyr151Phe)
c.494A>T (p.Tyr165Phe)
c.536A>T (p.Tyr179Phe)
c.761A>T (p.Tyr254Phe)
20g.17498907T>CCA312242280BFSP1c.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
20g.17498907T>GCA408317328BFSP1c.869A>C (p.Tyr290Ser)
c.452A>C (p.Tyr151Ser)
c.494A>C (p.Tyr165Ser)
c.536A>C (p.Tyr179Ser)
c.761A>C (p.Tyr254Ser)
20g.17498907T=CA2353084854BFSP1c.869A= (p.Tyr290=)
c.452A= (p.Tyr151=)
c.494A= (p.Tyr165=)
c.536A= (p.Tyr179=)
c.761A= (p.Tyr254=)
20g.17498907dupCA9772192BFSP1c.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
20g.17498908A>CCA408317331BFSP1c.868T>G (p.Tyr290Asp)
c.451T>G (p.Tyr151Asp)
c.493T>G (p.Tyr165Asp)
c.535T>G (p.Tyr179Asp)
c.760T>G (p.Tyr254Asp)
20g.17498908A>GCA408317330BFSP1c.868T>C (p.Tyr290His)
c.451T>C (p.Tyr151His)
c.493T>C (p.Tyr165His)
c.535T>C (p.Tyr179His)
c.760T>C (p.Tyr254His)
20g.17498908A>TCA408317329BFSP1c.868T>A (p.Tyr290Asn)
c.451T>A (p.Tyr151Asn)
c.493T>A (p.Tyr165Asn)
c.535T>A (p.Tyr179Asn)
c.760T>A (p.Tyr254Asn)
20g.17498912_17498914delCA2651989254BFSP1c.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
20g.17498909A>CCA509810210BFSP1c.867T>G (p.Ser289=)
c.450T>G (p.Ser150=)
c.492T>G (p.Ser164=)
c.534T>G (p.Ser178=)
c.759T>G (p.Ser253=)
20g.17498909A>GCA509810211BFSP1c.867T>C (p.Ser289=)
c.450T>C (p.Ser150=)
c.492T>C (p.Ser164=)
c.534T>C (p.Ser178=)
c.759T>C (p.Ser253=)
20g.17498909A>TCA509810212BFSP1c.867T>A (p.Ser289=)
c.450T>A (p.Ser150=)
c.492T>A (p.Ser164=)
c.534T>A (p.Ser178=)
c.759T>A (p.Ser253=)
20g.17498910G>ACA408317332BFSP1c.866C>T (p.Ser289Phe)
c.449C>T (p.Ser150Phe)
c.491C>T (p.Ser164Phe)
c.533C>T (p.Ser178Phe)
c.758C>T (p.Ser253Phe)
20g.17498910G>CCA408317333BFSP1c.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
20g.17498910G=CA2353084855BFSP1c.866C= (p.Ser289=)
c.449C= (p.Ser150=)
c.491C= (p.Ser164=)
c.533C= (p.Ser178=)
c.758C= (p.Ser253=)
20g.17498910G>TCA408317334BFSP1c.866C>A (p.Ser289Tyr)
c.449C>A (p.Ser150Tyr)
c.491C>A (p.Ser164Tyr)
c.533C>A (p.Ser178Tyr)
c.758C>A (p.Ser253Tyr)
20g.17498911A>CCA408317335BFSP1c.865T>G (p.Ser289Ala)
c.448T>G (p.Ser150Ala)
c.490T>G (p.Ser164Ala)
c.532T>G (p.Ser178Ala)
c.757T>G (p.Ser253Ala)
20g.17498911A>GCA408317336BFSP1c.865T>C (p.Ser289Pro)
c.448T>C (p.Ser150Pro)
c.490T>C (p.Ser164Pro)
c.532T>C (p.Ser178Pro)
c.757T>C (p.Ser253Pro)
20g.17498911A>TCA408317337BFSP1c.865T>A (p.Ser289Thr)
c.448T>A (p.Ser150Thr)
c.490T>A (p.Ser164Thr)
c.532T>A (p.Ser178Thr)
c.757T>A (p.Ser253Thr)
20g.17498912A>CCA509810217BFSP1c.864T>G (p.Ser288=)
c.447T>G (p.Ser149=)
c.489T>G (p.Ser163=)
c.531T>G (p.Ser177=)
c.756T>G (p.Ser252=)
20g.17498912A>GCA509810218BFSP1c.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
20g.17498912A>TCA509810219BFSP1c.864T>A (p.Ser288=)
c.447T>A (p.Ser149=)
c.489T>A (p.Ser163=)
c.531T>A (p.Ser177=)
c.756T>A (p.Ser252=)
20g.17498913G>ACA408317340BFSP1c.863C>T (p.Ser288Phe)
c.446C>T (p.Ser149Phe)
c.488C>T (p.Ser163Phe)
c.530C>T (p.Ser177Phe)
c.755C>T (p.Ser252Phe)
20g.17498913G>CCA408317338BFSP1c.863C>G (p.Ser288Cys)
c.446C>G (p.Ser149Cys)
c.488C>G (p.Ser163Cys)
c.530C>G (p.Ser177Cys)
c.755C>G (p.Ser252Cys)
20g.17498913G>TCA408317339BFSP1c.863C>A (p.Ser288Tyr)
c.446C>A (p.Ser149Tyr)
c.488C>A (p.Ser163Tyr)
c.530C>A (p.Ser177Tyr)
c.755C>A (p.Ser252Tyr)
20g.17498914A>CCA408317341BFSP1c.862T>G (p.Ser288Ala)
c.445T>G (p.Ser149Ala)
c.487T>G (p.Ser163Ala)
c.529T>G (p.Ser177Ala)
c.754T>G (p.Ser252Ala)
20g.17498914A>GCA408317342BFSP1c.862T>C (p.Ser288Pro)
c.445T>C (p.Ser149Pro)
c.487T>C (p.Ser163Pro)
c.529T>C (p.Ser177Pro)
c.754T>C (p.Ser252Pro)
20g.17498914A>TCA408317343BFSP1c.862T>A (p.Ser288Thr)
c.445T>A (p.Ser149Thr)
c.487T>A (p.Ser163Thr)
c.529T>A (p.Ser177Thr)
c.754T>A (p.Ser252Thr)
20g.17498915C>ACA9772193BFSP1c.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
20g.17498915C=CA2353084856BFSP1c.861G= (p.Lys287=)
c.444G= (p.Lys148=)
c.486G= (p.Lys162=)
c.528G= (p.Lys176=)
c.753G= (p.Lys251=)
20g.17498915C>GCA408317344BFSP1c.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
20g.17498915C>TCA509810249BFSP1c.861G>A (p.Lys287=)
c.444G>A (p.Lys148=)
c.486G>A (p.Lys162=)
c.528G>A (p.Lys176=)
c.753G>A (p.Lys251=)
20g.17498916T>ACA408317345BFSP1c.860A>T (p.Lys287Met)
c.443A>T (p.Lys148Met)
c.485A>T (p.Lys162Met)
c.527A>T (p.Lys176Met)
c.752A>T (p.Lys251Met)
20g.17498916T>CCA9772194BFSP1c.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
20g.17498916T>GCA408317346BFSP1c.860A>C (p.Lys287Thr)
c.443A>C (p.Lys148Thr)
c.485A>C (p.Lys162Thr)
c.527A>C (p.Lys176Thr)
c.752A>C (p.Lys251Thr)
20g.17498916T=CA2353084857BFSP1c.860A= (p.Lys287=)
c.443A= (p.Lys148=)
c.485A= (p.Lys162=)
c.527A= (p.Lys176=)
c.752A= (p.Lys251=)
20g.17498917T>ACA408317347BFSP1c.859A>T (p.Lys287Ter)
c.442A>T (p.Lys148Ter)
c.484A>T (p.Lys162Ter)
c.526A>T (p.Lys176Ter)
c.751A>T (p.Lys251Ter)
20g.17498917T>CCA408317348BFSP1c.859A>G (p.Lys287Glu)
c.442A>G (p.Lys148Glu)
c.484A>G (p.Lys162Glu)
c.526A>G (p.Lys176Glu)
c.751A>G (p.Lys251Glu)
20g.17498917T>GCA408317349BFSP1c.859A>C (p.Lys287Gln)
c.442A>C (p.Lys148Gln)
c.484A>C (p.Lys162Gln)
c.526A>C (p.Lys176Gln)
c.751A>C (p.Lys251Gln)
20g.17498918C>ACA408317350BFSP1c.858G>T (p.Glu286Asp)
c.441G>T (p.Glu147Asp)
c.483G>T (p.Glu161Asp)
c.525G>T (p.Glu175Asp)
c.750G>T (p.Glu250Asp)
20g.17498918C>GCA408317351BFSP1c.858G>C (p.Glu286Asp)
c.441G>C (p.Glu147Asp)
c.483G>C (p.Glu161Asp)
c.525G>C (p.Glu175Asp)
c.750G>C (p.Glu250Asp)
20g.17498918C>TCA509810250BFSP1c.858G>A (p.Glu286=)
c.441G>A (p.Glu147=)
c.483G>A (p.Glu161=)
c.525G>A (p.Glu175=)
c.750G>A (p.Glu250=)
20g.17498919T>ACA408317352BFSP1c.857A>T (p.Glu286Val)
c.440A>T (p.Glu147Val)
c.482A>T (p.Glu161Val)
c.524A>T (p.Glu175Val)
c.749A>T (p.Glu250Val)
20g.17498919T>CCA408317354BFSP1c.857A>G (p.Glu286Gly)
c.440A>G (p.Glu147Gly)
c.482A>G (p.Glu161Gly)
c.524A>G (p.Glu175Gly)
c.749A>G (p.Glu250Gly)
20g.17498919T>GCA408317353BFSP1c.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
20g.17498920C>ACA408317355BFSP1c.856G>T (p.Glu286Ter)
c.439G>T (p.Glu147Ter)
c.481G>T (p.Glu161Ter)
c.523G>T (p.Glu175Ter)
c.748G>T (p.Glu250Ter)
20g.17498920C=CA2353084858BFSP1c.856G= (p.Glu286=)
c.439G= (p.Glu147=)
c.481G= (p.Glu161=)
c.523G= (p.Glu175=)
c.748G= (p.Glu250=)
20g.17498920C>GCA408317356BFSP1c.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
20g.17498920C>TCA408317357BFSP1c.856G>A (p.Glu286Lys)
c.439G>A (p.Glu147Lys)
c.481G>A (p.Glu161Lys)
c.523G>A (p.Glu175Lys)
c.748G>A (p.Glu250Lys)
20g.17498921C>ACA509810251BFSP1c.855G>T (p.Leu285=)
c.438G>T (p.Leu146=)
c.480G>T (p.Leu160=)
c.522G>T (p.Leu174=)
c.747G>T (p.Leu249=)
20g.17498921C>GCA509810252BFSP1c.855G>C (p.Leu285=)
c.438G>C (p.Leu146=)
c.480G>C (p.Leu160=)
c.522G>C (p.Leu174=)
c.747G>C (p.Leu249=)
20g.17498921C>TCA509810253BFSP1c.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
20g.17498922A>CCA408317358BFSP1c.854T>G (p.Leu285Arg)
c.437T>G (p.Leu146Arg)
c.479T>G (p.Leu160Arg)
c.521T>G (p.Leu174Arg)
c.746T>G (p.Leu249Arg)
20g.17498922A>GCA408317359BFSP1c.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
20g.17498922A>TCA408317360BFSP1c.854T>A (p.Leu285Gln)
c.437T>A (p.Leu146Gln)
c.479T>A (p.Leu160Gln)
c.521T>A (p.Leu174Gln)
c.746T>A (p.Leu249Gln)
20g.17498923G>ACA509810254BFSP1c.853C>T (p.Leu285=)
c.436C>T (p.Leu146=)
c.478C>T (p.Leu160=)
c.520C>T (p.Leu174=)
c.745C>T (p.Leu249=)
20g.17498923G>CCA408317361BFSP1c.853C>G (p.Leu285Val)
c.436C>G (p.Leu146Val)
c.478C>G (p.Leu160Val)
c.520C>G (p.Leu174Val)
c.745C>G (p.Leu249Val)
20g.17498923G>TCA408317362BFSP1c.853C>A (p.Leu285Met)
c.436C>A (p.Leu146Met)
c.478C>A (p.Leu160Met)
c.520C>A (p.Leu174Met)
c.745C>A (p.Leu249Met)
20g.17498924G>ACA509810257BFSP1c.852C>T (p.Val284=)
c.435C>T (p.Val145=)
c.477C>T (p.Val159=)
c.519C>T (p.Val173=)
c.744C>T (p.Val248=)
20g.17498924G>CCA509810256BFSP1c.852C>G (p.Val284=)
c.435C>G (p.Val145=)
c.477C>G (p.Val159=)
c.519C>G (p.Val173=)
c.744C>G (p.Val248=)
20g.17498924G>TCA509810255BFSP1c.852C>A (p.Val284=)
c.435C>A (p.Val145=)
c.477C>A (p.Val159=)
c.519C>A (p.Val173=)
c.744C>A (p.Val248=)
20g.17498924_17498925delinsGACA2353084859BFSP1c.851_852delinsTC (p.Val284=)
c.434_435delinsTC (p.Val145=)
c.476_477delinsTC (p.Val159=)
c.518_519delinsTC (p.Val173=)
c.743_744delinsTC (p.Val248=)
20g.17498925delCA2353084860BFSP1c.851del (p.Val284AlafsTer19)
c.434del (p.Val145AlafsTer19)
c.476del (p.Val159AlafsTer19)
c.518del (p.Val173AlafsTer19)
c.743del (p.Val248AlafsTer19)
 dbSNP
20g.17498925A=CA2353084861BFSP1c.851T= (p.Val284=)
c.434T= (p.Val145=)
c.476T= (p.Val159=)
c.518T= (p.Val173=)
c.743T= (p.Val248=)
20g.17498925A>CCA408317363BFSP1c.851T>G (p.Val284Gly)
c.434T>G (p.Val145Gly)
c.476T>G (p.Val159Gly)
c.518T>G (p.Val173Gly)
c.743T>G (p.Val248Gly)
20g.17498925A>GCA408317364BFSP1c.851T>C (p.Val284Ala)
c.434T>C (p.Val145Ala)
c.476T>C (p.Val159Ala)
c.518T>C (p.Val173Ala)
c.743T>C (p.Val248Ala)
20g.17498925A>TCA9772195BFSP1c.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
20g.17498926C>ACA408317366BFSP1c.850G>T (p.Val284Phe)
c.433G>T (p.Val145Phe)
c.475G>T (p.Val159Phe)
c.517G>T (p.Val173Phe)
c.742G>T (p.Val248Phe)
20g.17498926C=CA2353084862BFSP1c.850G= (p.Val284=)
c.433G= (p.Val145=)
c.475G= (p.Val159=)
c.517G= (p.Val173=)
c.742G= (p.Val248=)
20g.17498926C>GCA408317365BFSP1c.850G>C (p.Val284Leu)
c.433G>C (p.Val145Leu)
c.475G>C (p.Val159Leu)
c.517G>C (p.Val173Leu)
c.742G>C (p.Val248Leu)
20g.17498926C>TCA312242299BFSP1c.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
20g.17498927C>ACA509810258BFSP1c.849G>T (p.Arg283=)
c.432G>T (p.Arg144=)
c.474G>T (p.Arg158=)
c.516G>T (p.Arg172=)
c.741G>T (p.Arg247=)
20g.17498927C>GCA509810259BFSP1c.849G>C (p.Arg283=)
c.432G>C (p.Arg144=)
c.474G>C (p.Arg158=)
c.516G>C (p.Arg172=)
c.741G>C (p.Arg247=)
20g.17498927C>TCA509810260BFSP1c.849G>A (p.Arg283=)
c.432G>A (p.Arg144=)
c.474G>A (p.Arg158=)
c.516G>A (p.Arg172=)
c.741G>A (p.Arg247=)
20g.17498928C>ACA408317367BFSP1c.848G>T (p.Arg283Leu)
c.431G>T (p.Arg144Leu)
c.473G>T (p.Arg158Leu)
c.515G>T (p.Arg172Leu)
c.740G>T (p.Arg247Leu)
20g.17498928C>GCA408317368BFSP1c.848G>C (p.Arg283Pro)
c.431G>C (p.Arg144Pro)
c.473G>C (p.Arg158Pro)
c.515G>C (p.Arg172Pro)
c.740G>C (p.Arg247Pro)
20g.17498928C>TCA408317369BFSP1c.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
20g.17498929G>ACA408317370BFSP1c.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
20g.17498929G>CCA408317371BFSP1c.847C>G (p.Arg283Gly)
c.430C>G (p.Arg144Gly)
c.472C>G (p.Arg158Gly)
c.514C>G (p.Arg172Gly)
c.739C>G (p.Arg247Gly)
20g.17498929G=CA2353084863BFSP1c.847C= (p.Arg283=)
c.430C= (p.Arg144=)
c.472C= (p.Arg158=)
c.514C= (p.Arg172=)
c.739C= (p.Arg247=)
20g.17498929G>TCA509810261BFSP1c.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
20g.17498930C>ACA408317372BFSP1c.846G>T (p.Glu282Asp)
c.429G>T (p.Glu143Asp)
c.471G>T (p.Glu157Asp)
c.513G>T (p.Glu171Asp)
c.738G>T (p.Glu246Asp)
20g.17498930C=CA2353084864BFSP1c.846G= (p.Glu282=)
c.429G= (p.Glu143=)
c.471G= (p.Glu157=)
c.513G= (p.Glu171=)
c.738G= (p.Glu246=)
20g.17498930C>GCA408317373BFSP1c.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
20g.17498930C>TCA509810262BFSP1c.846G>A (p.Glu282=)
c.429G>A (p.Glu143=)
c.471G>A (p.Glu157=)
c.513G>A (p.Glu171=)
c.738G>A (p.Glu246=)
20g.17498931T>ACA408317374BFSP1c.845A>T (p.Glu282Val)
c.428A>T (p.Glu143Val)
c.470A>T (p.Glu157Val)
c.512A>T (p.Glu171Val)
c.737A>T (p.Glu246Val)
20g.17498931T>CCA408317375BFSP1c.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
20g.17498931T>GCA408317376BFSP1c.845A>C (p.Glu282Ala)
c.428A>C (p.Glu143Ala)
c.470A>C (p.Glu157Ala)
c.512A>C (p.Glu171Ala)
c.737A>C (p.Glu246Ala)
20g.17498932C>ACA408317377BFSP1c.844G>T (p.Glu282Ter)
c.427G>T (p.Glu143Ter)
c.469G>T (p.Glu157Ter)
c.511G>T (p.Glu171Ter)
c.736G>T (p.Glu246Ter)
20g.17498932C>GCA408317378BFSP1c.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
20g.17498932C>TCA408317379BFSP1c.844G>A (p.Glu282Lys)
c.427G>A (p.Glu143Lys)
c.469G>A (p.Glu157Lys)
c.511G>A (p.Glu171Lys)
c.736G>A (p.Glu246Lys)
20g.17498933T>ACA509810263BFSP1c.843A>T (p.Thr281=)
c.426A>T (p.Thr142=)
c.468A>T (p.Thr156=)
c.510A>T (p.Thr170=)
c.735A>T (p.Thr245=)
20g.17498933T>CCA509810264BFSP1c.843A>G (p.Thr281=)
c.426A>G (p.Thr142=)
c.468A>G (p.Thr156=)
c.510A>G (p.Thr170=)
c.735A>G (p.Thr245=)
20g.17498933T>GCA509810265BFSP1c.843A>C (p.Thr281=)
c.426A>C (p.Thr142=)
c.468A>C (p.Thr156=)
c.510A>C (p.Thr170=)
c.735A>C (p.Thr245=)
20g.17498934G>ACA408317381BFSP1c.842C>T (p.Thr281Ile)
c.425C>T (p.Thr142Ile)
c.467C>T (p.Thr156Ile)
c.509C>T (p.Thr170Ile)
c.734C>T (p.Thr245Ile)
20g.17498934G>CCA408317382BFSP1c.842C>G (p.Thr281Arg)
c.425C>G (p.Thr142Arg)
c.467C>G (p.Thr156Arg)
c.509C>G (p.Thr170Arg)
c.734C>G (p.Thr245Arg)
20g.17498934G>TCA408317380BFSP1c.842C>A (p.Thr281Lys)
c.425C>A (p.Thr142Lys)
c.467C>A (p.Thr156Lys)
c.509C>A (p.Thr170Lys)
c.734C>A (p.Thr245Lys)
20g.17498935T>ACA408317385BFSP1c.841A>T (p.Thr281Ser)
c.424A>T (p.Thr142Ser)
c.466A>T (p.Thr156Ser)
c.508A>T (p.Thr170Ser)
c.733A>T (p.Thr245Ser)
20g.17498935T>CCA408317383BFSP1c.841A>G (p.Thr281Ala)
c.424A>G (p.Thr142Ala)
c.466A>G (p.Thr156Ala)
c.508A>G (p.Thr170Ala)
c.733A>G (p.Thr245Ala)
20g.17498935T>GCA408317384BFSP1c.841A>C (p.Thr281Pro)
c.424A>C (p.Thr142Pro)
c.466A>C (p.Thr156Pro)
c.508A>C (p.Thr170Pro)
c.733A>C (p.Thr245Pro)
20g.17498936C>ACA408317386BFSP1c.840G>T (p.Glu280Asp)
c.423G>T (p.Glu141Asp)
c.465G>T (p.Glu155Asp)
c.507G>T (p.Glu169Asp)
c.732G>T (p.Glu244Asp)
20g.17498936C>GCA408317387BFSP1c.840G>C (p.Glu280Asp)
c.423G>C (p.Glu141Asp)
c.465G>C (p.Glu155Asp)
c.507G>C (p.Glu169Asp)
c.732G>C (p.Glu244Asp)
20g.17498936C>TCA509810266BFSP1c.840G>A (p.Glu280=)
c.423G>A (p.Glu141=)
c.465G>A (p.Glu155=)
c.507G>A (p.Glu169=)
c.732G>A (p.Glu244=)
20g.17498937T>ACA312242305BFSP1c.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
20g.17498937T>CCA408317388BFSP1c.839A>G (p.Glu280Gly)
c.422A>G (p.Glu141Gly)
c.464A>G (p.Glu155Gly)
c.506A>G (p.Glu169Gly)
c.731A>G (p.Glu244Gly)
20g.17498937T>GCA408317389BFSP1c.839A>C (p.Glu280Ala)
c.422A>C (p.Glu141Ala)
c.464A>C (p.Glu155Ala)
c.506A>C (p.Glu169Ala)
c.731A>C (p.Glu244Ala)
20g.17498937T=CA2353084865BFSP1c.839A= (p.Glu280=)
c.422A= (p.Glu141=)
c.464A= (p.Glu155=)
c.506A= (p.Glu169=)
c.731A= (p.Glu244=)
20g.17498938C>ACA408317392BFSP1c.838G>T (p.Glu280Ter)
c.421G>T (p.Glu141Ter)
c.463G>T (p.Glu155Ter)
c.505G>T (p.Glu169Ter)
c.730G>T (p.Glu244Ter)
20g.17498938C>GCA408317390BFSP1c.838G>C (p.Glu280Gln)
c.421G>C (p.Glu141Gln)
c.463G>C (p.Glu155Gln)
c.505G>C (p.Glu169Gln)
c.730G>C (p.Glu244Gln)
20g.17498938C>TCA408317391BFSP1c.838G>A (p.Glu280Lys)
c.421G>A (p.Glu141Lys)
c.463G>A (p.Glu155Lys)
c.505G>A (p.Glu169Lys)
c.730G>A (p.Glu244Lys)
20g.17498939C>ACA408317393BFSP1c.837G>T (p.Glu279Asp)
c.420G>T (p.Glu140Asp)
c.462G>T (p.Glu154Asp)
c.504G>T (p.Glu168Asp)
c.729G>T (p.Glu243Asp)
20g.17498939C>GCA408317394BFSP1c.837G>C (p.Glu279Asp)
c.420G>C (p.Glu140Asp)
c.462G>C (p.Glu154Asp)
c.504G>C (p.Glu168Asp)
c.729G>C (p.Glu243Asp)
20g.17498939C>TCA509810267BFSP1c.837G>A (p.Glu279=)
c.420G>A (p.Glu140=)
c.462G>A (p.Glu154=)
c.504G>A (p.Glu168=)
c.729G>A (p.Glu243=)
20g.17498940T>ACA408317395BFSP1c.836A>T (p.Glu279Val)
c.419A>T (p.Glu140Val)
c.461A>T (p.Glu154Val)
c.503A>T (p.Glu168Val)
c.728A>T (p.Glu243Val)
20g.17498940T>CCA408317396BFSP1c.836A>G (p.Glu279Gly)
c.419A>G (p.Glu140Gly)
c.461A>G (p.Glu154Gly)
c.503A>G (p.Glu168Gly)
c.728A>G (p.Glu243Gly)
20g.17498940T>GCA408317397BFSP1c.836A>C (p.Glu279Ala)
c.419A>C (p.Glu140Ala)
c.461A>C (p.Glu154Ala)
c.503A>C (p.Glu168Ala)
c.728A>C (p.Glu243Ala)
20g.17498941C>ACA408317398BFSP1c.835G>T (p.Glu279Ter)
c.418G>T (p.Glu140Ter)
c.460G>T (p.Glu154Ter)
c.502G>T (p.Glu168Ter)
c.727G>T (p.Glu243Ter)
20g.17498941C>GCA408317400BFSP1c.835G>C (p.Glu279Gln)
c.418G>C (p.Glu140Gln)
c.460G>C (p.Glu154Gln)
c.502G>C (p.Glu168Gln)
c.727G>C (p.Glu243Gln)
20g.17498941C>TCA408317399BFSP1c.835G>A (p.Glu279Lys)
c.418G>A (p.Glu140Lys)
c.460G>A (p.Glu154Lys)
c.502G>A (p.Glu168Lys)
c.727G>A (p.Glu243Lys)
20g.17498942A=CA2353084866BFSP1c.834T= (p.Ile278=)
c.417T= (p.Ile139=)
c.459T= (p.Ile153=)
c.501T= (p.Ile167=)
c.726T= (p.Ile242=)
20g.17498942A>CCA9772196BFSP1c.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
20g.17498942A>GCA509810269BFSP1c.834T>C (p.Ile278=)
c.417T>C (p.Ile139=)
c.459T>C (p.Ile153=)
c.501T>C (p.Ile167=)
c.726T>C (p.Ile242=)
20g.17498942A>TCA509810268BFSP1c.834T>A (p.Ile278=)
c.417T>A (p.Ile139=)
c.459T>A (p.Ile153=)
c.501T>A (p.Ile167=)
c.726T>A (p.Ile242=)
20g.17498943A=CA2353084867BFSP1c.833T= (p.Ile278=)
c.416T= (p.Ile139=)
c.458T= (p.Ile153=)
c.500T= (p.Ile167=)
c.725T= (p.Ile242=)
20g.17498943A>CCA408317401BFSP1c.833T>G (p.Ile278Ser)
c.416T>G (p.Ile139Ser)
c.458T>G (p.Ile153Ser)
c.500T>G (p.Ile167Ser)
c.725T>G (p.Ile242Ser)
20g.17498943A>GCA9772197BFSP1c.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
20g.17498943A>TCA408317402BFSP1c.833T>A (p.Ile278Asn)
c.416T>A (p.Ile139Asn)
c.458T>A (p.Ile153Asn)
c.500T>A (p.Ile167Asn)
c.725T>A (p.Ile242Asn)
20g.17498944T>ACA408317403BFSP1c.832A>T (p.Ile278Phe)
c.415A>T (p.Ile139Phe)
c.457A>T (p.Ile153Phe)
c.499A>T (p.Ile167Phe)
c.724A>T (p.Ile242Phe)
20g.17498944T>CCA408317404BFSP1c.832A>G (p.Ile278Val)
c.415A>G (p.Ile139Val)
c.457A>G (p.Ile153Val)
c.499A>G (p.Ile167Val)
c.724A>G (p.Ile242Val)
20g.17498944T>GCA408317405BFSP1c.832A>C (p.Ile278Leu)
c.415A>C (p.Ile139Leu)
c.457A>C (p.Ile153Leu)
c.499A>C (p.Ile167Leu)
c.724A>C (p.Ile242Leu)
20g.17498945C>ACA408317406BFSP1c.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
20g.17498945C>GCA408317407BFSP1c.831G>C (p.Glu277Asp)
c.414G>C (p.Glu138Asp)
c.456G>C (p.Glu152Asp)
c.498G>C (p.Glu166Asp)
c.723G>C (p.Glu241Asp)
20g.17498945C>TCA509810270BFSP1c.831G>A (p.Glu277=)
c.414G>A (p.Glu138=)
c.456G>A (p.Glu152=)
c.498G>A (p.Glu166=)
c.723G>A (p.Glu241=)
20g.17498946T>ACA408317408BFSP1c.830A>T (p.Glu277Val)
c.413A>T (p.Glu138Val)
c.455A>T (p.Glu152Val)
c.497A>T (p.Glu166Val)
c.722A>T (p.Glu241Val)
20g.17498946T>CCA408317409BFSP1c.830A>G (p.Glu277Gly)
c.413A>G (p.Glu138Gly)
c.455A>G (p.Glu152Gly)
c.497A>G (p.Glu166Gly)
c.722A>G (p.Glu241Gly)
20g.17498946T>GCA408317410BFSP1c.830A>C (p.Glu277Ala)
c.413A>C (p.Glu138Ala)
c.455A>C (p.Glu152Ala)
c.497A>C (p.Glu166Ala)
c.722A>C (p.Glu241Ala)
20g.17498947C>ACA408317411BFSP1c.829G>T (p.Glu277Ter)
c.412G>T (p.Glu138Ter)
c.454G>T (p.Glu152Ter)
c.496G>T (p.Glu166Ter)
c.721G>T (p.Glu241Ter)
20g.17498947C=CA2353084868BFSP1c.829G= (p.Glu277=)
c.412G= (p.Glu138=)
c.454G= (p.Glu152=)
c.496G= (p.Glu166=)
c.721G= (p.Glu241=)
20g.17498947C>GCA408317413BFSP1c.829G>C (p.Glu277Gln)
c.412G>C (p.Glu138Gln)
c.454G>C (p.Glu152Gln)
c.496G>C (p.Glu166Gln)
c.721G>C (p.Glu241Gln)
20g.17498947C>TCA408317412BFSP1c.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
20g.17498948C>ACA408317414BFSP1c.828G>T (p.Lys276Asn)
c.411G>T (p.Lys137Asn)
c.453G>T (p.Lys151Asn)
c.495G>T (p.Lys165Asn)
c.720G>T (p.Lys240Asn)
20g.17498948C=CA2353084869BFSP1c.828G= (p.Lys276=)
c.411G= (p.Lys137=)
c.453G= (p.Lys151=)
c.495G= (p.Lys165=)
c.720G= (p.Lys240=)
20g.17498948C>GCA408317415BFSP1c.828G>C (p.Lys276Asn)
c.411G>C (p.Lys137Asn)
c.453G>C (p.Lys151Asn)
c.495G>C (p.Lys165Asn)
c.720G>C (p.Lys240Asn)
20g.17498948C>TCA509810271BFSP1c.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
20g.17498949T>ACA408317416BFSP1c.827A>T (p.Lys276Met)
c.410A>T (p.Lys137Met)
c.452A>T (p.Lys151Met)
c.494A>T (p.Lys165Met)
c.719A>T (p.Lys240Met)
20g.17498949T>CCA408317417BFSP1c.827A>G (p.Lys276Arg)
c.410A>G (p.Lys137Arg)
c.452A>G (p.Lys151Arg)
c.494A>G (p.Lys165Arg)
c.719A>G (p.Lys240Arg)
20g.17498949T>GCA408317418BFSP1c.827A>C (p.Lys276Thr)
c.410A>C (p.Lys137Thr)
c.452A>C (p.Lys151Thr)
c.494A>C (p.Lys165Thr)
c.719A>C (p.Lys240Thr)
20g.17498950T>ACA408317421BFSP1c.826A>T (p.Lys276Ter)
c.409A>T (p.Lys137Ter)
c.451A>T (p.Lys151Ter)
c.493A>T (p.Lys165Ter)
c.718A>T (p.Lys240Ter)
20g.17498950T>CCA408317420BFSP1c.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
20g.17498950T>GCA408317419BFSP1c.826A>C (p.Lys276Gln)
c.409A>C (p.Lys137Gln)
c.451A>C (p.Lys151Gln)
c.493A>C (p.Lys165Gln)
c.718A>C (p.Lys240Gln)
20g.17498950T=CA2353084870BFSP1c.826A= (p.Lys276=)
c.409A= (p.Lys137=)
c.451A= (p.Lys151=)
c.493A= (p.Lys165=)
c.718A= (p.Lys240=)
20g.17498951G>ACA509810272BFSP1c.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
20g.17498951G>CCA509810273BFSP1c.825C>G (p.Arg275=)
c.408C>G (p.Arg136=)
c.450C>G (p.Arg150=)
c.492C>G (p.Arg164=)
c.717C>G (p.Arg239=)
20g.17498951G=CA2353084871BFSP1c.825C= (p.Arg275=)
c.408C= (p.Arg136=)
c.450C= (p.Arg150=)
c.492C= (p.Arg164=)
c.717C= (p.Arg239=)
20g.17498951G>TCA509810274BFSP1c.825C>A (p.Arg275=)
c.408C>A (p.Arg136=)
c.450C>A (p.Arg150=)
c.492C>A (p.Arg164=)
c.717C>A (p.Arg239=)
20g.17498952C>ACA408317422BFSP1c.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
20g.17498952C=CA2353084872BFSP1c.824G= (p.Arg275=)
c.407G= (p.Arg136=)
c.449G= (p.Arg150=)
c.491G= (p.Arg164=)
c.716G= (p.Arg239=)
20g.17498952C>GCA408317423BFSP1c.824G>C (p.Arg275Pro)
c.407G>C (p.Arg136Pro)
c.449G>C (p.Arg150Pro)
c.491G>C (p.Arg164Pro)
c.716G>C (p.Arg239Pro)
20g.17498952C>TCA9772198BFSP1c.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
20g.17498953G>ACA9772199BFSP1c.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
20g.17498953G>CCA408317424BFSP1c.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
20g.17498953G=CA2353084873BFSP1c.823C= (p.Arg275=)
c.406C= (p.Arg136=)
c.448C= (p.Arg150=)
c.490C= (p.Arg164=)
c.715C= (p.Arg239=)
20g.17498953G>TCA408317425BFSP1c.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
20g.17498954C>ACA509810275BFSP1c.822G>T (p.Leu274=)
c.405G>T (p.Leu135=)
c.447G>T (p.Leu149=)
c.489G>T (p.Leu163=)
c.714G>T (p.Leu238=)
20g.17498954C=CA2353084874BFSP1c.822G= (p.Leu274=)
c.405G= (p.Leu135=)
c.447G= (p.Leu149=)
c.489G= (p.Leu163=)
c.714G= (p.Leu238=)
20g.17498954C>GCA509810276BFSP1c.822G>C (p.Leu274=)
c.405G>C (p.Leu135=)
c.447G>C (p.Leu149=)
c.489G>C (p.Leu163=)
c.714G>C (p.Leu238=)
20g.17498954C>TCA509810277BFSP1c.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
20g.17498955A>CCA408317426BFSP1c.821T>G (p.Leu274Arg)
c.404T>G (p.Leu135Arg)
c.446T>G (p.Leu149Arg)
c.488T>G (p.Leu163Arg)
c.713T>G (p.Leu238Arg)
20g.17498955A>GCA408317428BFSP1c.821T>C (p.Leu274Pro)
c.404T>C (p.Leu135Pro)
c.446T>C (p.Leu149Pro)
c.488T>C (p.Leu163Pro)
c.713T>C (p.Leu238Pro)
20g.17498955A>TCA408317427BFSP1c.821T>A (p.Leu274Gln)
c.404T>A (p.Leu135Gln)
c.446T>A (p.Leu149Gln)
c.488T>A (p.Leu163Gln)
c.713T>A (p.Leu238Gln)
20g.17498956G>ACA509810278BFSP1c.820C>T (p.Leu274=)
c.403C>T (p.Leu135=)
c.445C>T (p.Leu149=)
c.487C>T (p.Leu163=)
c.712C>T (p.Leu238=)
20g.17498956G>CCA408317429BFSP1c.820C>G (p.Leu274Val)
c.403C>G (p.Leu135Val)
c.445C>G (p.Leu149Val)
c.487C>G (p.Leu163Val)
c.712C>G (p.Leu238Val)
20g.17498956G>TCA408317430BFSP1c.820C>A (p.Leu274Met)
c.403C>A (p.Leu135Met)
c.445C>A (p.Leu149Met)
c.487C>A (p.Leu163Met)
c.712C>A (p.Leu238Met)
20g.17498957T>ACA509810279BFSP1c.819A>T (p.Thr273=)
c.402A>T (p.Thr134=)
c.444A>T (p.Thr148=)
c.486A>T (p.Thr162=)
c.711A>T (p.Thr237=)
20g.17498957T>CCA509810280BFSP1c.819A>G (p.Thr273=)
c.402A>G (p.Thr134=)
c.444A>G (p.Thr148=)
c.486A>G (p.Thr162=)
c.711A>G (p.Thr237=)
20g.17498957T>GCA509810281BFSP1c.819A>C (p.Thr273=)
c.402A>C (p.Thr134=)
c.444A>C (p.Thr148=)
c.486A>C (p.Thr162=)
c.711A>C (p.Thr237=)
20g.17498958G>ACA408317431BFSP1c.818C>T (p.Thr273Ile)
c.401C>T (p.Thr134Ile)
c.443C>T (p.Thr148Ile)
c.485C>T (p.Thr162Ile)
c.710C>T (p.Thr237Ile)
20g.17498958G>CCA408317432BFSP1c.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
20g.17498958G=CA2353084875BFSP1c.818C= (p.Thr273=)
c.401C= (p.Thr134=)
c.443C= (p.Thr148=)
c.485C= (p.Thr162=)
c.710C= (p.Thr237=)
20g.17498958G>TCA408317433BFSP1c.818C>A (p.Thr273Lys)
c.401C>A (p.Thr134Lys)
c.443C>A (p.Thr148Lys)
c.485C>A (p.Thr162Lys)
c.710C>A (p.Thr237Lys)
20g.17498958_17498959insCCCA2815428191BFSP1c.817_818insGG (p.Thr273ArgfsTer31)
c.400_401insGG (p.Thr134ArgfsTer31)
c.442_443insGG (p.Thr148ArgfsTer31)
c.484_485insGG (p.Thr162ArgfsTer31)
c.709_710insGG (p.Thr237ArgfsTer31)
20g.17498959T>ACA408317434BFSP1c.817A>T (p.Thr273Ser)
c.400A>T (p.Thr134Ser)
c.442A>T (p.Thr148Ser)
c.484A>T (p.Thr162Ser)
c.709A>T (p.Thr237Ser)
20g.17498959T>CCA408317435BFSP1c.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
20g.17498959T>GCA408317436BFSP1c.817A>C (p.Thr273Pro)
c.400A>C (p.Thr134Pro)
c.442A>C (p.Thr148Pro)
c.484A>C (p.Thr162Pro)
c.709A>C (p.Thr237Pro)
20g.17498960C>ACA408317437BFSP1c.816G>T (p.Glu272Asp)
c.399G>T (p.Glu133Asp)
c.441G>T (p.Glu147Asp)
c.483G>T (p.Glu161Asp)
c.708G>T (p.Glu236Asp)
20g.17498960C>GCA408317438BFSP1c.816G>C (p.Glu272Asp)
c.399G>C (p.Glu133Asp)
c.441G>C (p.Glu147Asp)
c.483G>C (p.Glu161Asp)
c.708G>C (p.Glu236Asp)
20g.17498960C>TCA509810282BFSP1c.816G>A (p.Glu272=)
c.399G>A (p.Glu133=)
c.441G>A (p.Glu147=)
c.483G>A (p.Glu161=)
c.708G>A (p.Glu236=)
20g.17498961T>ACA408317441BFSP1c.815A>T (p.Glu272Val)
c.398A>T (p.Glu133Val)
c.440A>T (p.Glu147Val)
c.482A>T (p.Glu161Val)
c.707A>T (p.Glu236Val)
20g.17498961T>CCA408317440BFSP1c.815A>G (p.Glu272Gly)
c.398A>G (p.Glu133Gly)
c.440A>G (p.Glu147Gly)
c.482A>G (p.Glu161Gly)
c.707A>G (p.Glu236Gly)
20g.17498961T>GCA408317439BFSP1c.815A>C (p.Glu272Ala)
c.398A>C (p.Glu133Ala)
c.440A>C (p.Glu147Ala)
c.482A>C (p.Glu161Ala)
c.707A>C (p.Glu236Ala)
20g.17498961_17498962insGGAGTGGCGAGCTTTCATGTGCATGGCAAAGTTGAGAAAGGTAATTATTTGGAGAGGAAAAGAAATGAAGCCGAAAGGCAAAGACAAACA2815428193BFSP1c.814_815insTTTGTCTTTGCCTTTCGGCTTCATTTCTTTTCCTCTCCAAATAATTACCTTTCTCAACTTTGCCATGCACATGAAAGCTCGCCACTCC (p.Glu272ValfsTer15)
c.397_398insTTTGTCTTTGCCTTTCGGCTTCATTTCTTTTCCTCTCCAAATAATTACCTTTCTCAACTTTGCCATGCACATGAAAGCTCGCCACTCC (p.Glu133ValfsTer15)
c.439_440insTTTGTCTTTGCCTTTCGGCTTCATTTCTTTTCCTCTCCAAATAATTACCTTTCTCAACTTTGCCATGCACATGAAAGCTCGCCACTCC (p.Glu147ValfsTer15)
c.481_482insTTTGTCTTTGCCTTTCGGCTTCATTTCTTTTCCTCTCCAAATAATTACCTTTCTCAACTTTGCCATGCACATGAAAGCTCGCCACTCC (p.Glu161ValfsTer15)
c.706_707insTTTGTCTTTGCCTTTCGGCTTCATTTCTTTTCCTCTCCAAATAATTACCTTTCTCAACTTTGCCATGCACATGAAAGCTCGCCACTCC (p.Glu236ValfsTer15)
20g.17498962C>ACA408317442BFSP1c.814G>T (p.Glu272Ter)
c.397G>T (p.Glu133Ter)
c.439G>T (p.Glu147Ter)
c.481G>T (p.Glu161Ter)
c.706G>T (p.Glu236Ter)
20g.17498962C>GCA408317444BFSP1c.814G>C (p.Glu272Gln)
c.397G>C (p.Glu133Gln)
c.439G>C (p.Glu147Gln)
c.481G>C (p.Glu161Gln)
c.706G>C (p.Glu236Gln)
20g.17498962C>TCA408317443BFSP1c.814G>A (p.Glu272Lys)
c.397G>A (p.Glu133Lys)
c.439G>A (p.Glu147Lys)
c.481G>A (p.Glu161Lys)
c.706G>A (p.Glu236Lys)
20g.17498963A=CA2353084876BFSP1c.813T= (p.Ile271=)
c.396T= (p.Ile132=)
c.438T= (p.Ile146=)
c.480T= (p.Ile160=)
c.705T= (p.Ile235=)
20g.17498963A>CCA408317445BFSP1c.813T>G (p.Ile271Met)
c.396T>G (p.Ile132Met)
c.438T>G (p.Ile146Met)
c.480T>G (p.Ile160Met)
c.705T>G (p.Ile235Met)
20g.17498963A>GCA509810283BFSP1c.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
20g.17498963A>TCA509810284BFSP1c.813T>A (p.Ile271=)
c.396T>A (p.Ile132=)
c.438T>A (p.Ile146=)
c.480T>A (p.Ile160=)
c.705T>A (p.Ile235=)
20g.17498964A=CA2353084877BFSP1c.812T= (p.Ile271=)
c.395T= (p.Ile132=)
c.437T= (p.Ile146=)
c.479T= (p.Ile160=)
c.704T= (p.Ile235=)
20g.17498964A>CCA408317446BFSP1c.812T>G (p.Ile271Ser)
c.395T>G (p.Ile132Ser)
c.437T>G (p.Ile146Ser)
c.479T>G (p.Ile160Ser)
c.704T>G (p.Ile235Ser)
20g.17498964A>GCA057949BFSP1c.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
20g.17498964A>TCA408317447BFSP1c.812T>A (p.Ile271Asn)
c.395T>A (p.Ile132Asn)
c.437T>A (p.Ile146Asn)
c.479T>A (p.Ile160Asn)
c.704T>A (p.Ile235Asn)
20g.17498965T>ACA408317448BFSP1c.811A>T (p.Ile271Phe)
c.394A>T (p.Ile132Phe)
c.436A>T (p.Ile146Phe)
c.478A>T (p.Ile160Phe)
c.703A>T (p.Ile235Phe)
20g.17498965T>CCA408317449BFSP1c.811A>G (p.Ile271Val)
c.394A>G (p.Ile132Val)
c.436A>G (p.Ile146Val)
c.478A>G (p.Ile160Val)
c.703A>G (p.Ile235Val)
20g.17498965T>GCA408317450BFSP1c.811A>C (p.Ile271Leu)
c.394A>C (p.Ile132Leu)
c.436A>C (p.Ile146Leu)
c.478A>C (p.Ile160Leu)
c.703A>C (p.Ile235Leu)

Number of alleles fetched