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.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)
20g.17498966C>ACA408317451BFSP1c.810G>T (p.Gln270His)
c.393G>T (p.Gln131His)
c.435G>T (p.Gln145His)
c.477G>T (p.Gln159His)
c.702G>T (p.Gln234His)
20g.17498966C>GCA408317452BFSP1c.810G>C (p.Gln270His)
c.393G>C (p.Gln131His)
c.435G>C (p.Gln145His)
c.477G>C (p.Gln159His)
c.702G>C (p.Gln234His)
20g.17498966C>TCA509810285BFSP1c.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
20g.17498967T>ACA408317453BFSP1c.809A>T (p.Gln270Leu)
c.392A>T (p.Gln131Leu)
c.434A>T (p.Gln145Leu)
c.476A>T (p.Gln159Leu)
c.701A>T (p.Gln234Leu)
20g.17498967T>CCA408317454BFSP1c.809A>G (p.Gln270Arg)
c.392A>G (p.Gln131Arg)
c.434A>G (p.Gln145Arg)
c.476A>G (p.Gln159Arg)
c.701A>G (p.Gln234Arg)
20g.17498967T>GCA408317455BFSP1c.809A>C (p.Gln270Pro)
c.392A>C (p.Gln131Pro)
c.434A>C (p.Gln145Pro)
c.476A>C (p.Gln159Pro)
c.701A>C (p.Gln234Pro)
20g.17498968G>ACA408317458BFSP1c.808C>T (p.Gln270Ter)
c.391C>T (p.Gln131Ter)
c.433C>T (p.Gln145Ter)
c.475C>T (p.Gln159Ter)
c.700C>T (p.Gln234Ter)
20g.17498968G>CCA408317456BFSP1c.808C>G (p.Gln270Glu)
c.391C>G (p.Gln131Glu)
c.433C>G (p.Gln145Glu)
c.475C>G (p.Gln159Glu)
c.700C>G (p.Gln234Glu)
20g.17498968G>TCA408317457BFSP1c.808C>A (p.Gln270Lys)
c.391C>A (p.Gln131Lys)
c.433C>A (p.Gln145Lys)
c.475C>A (p.Gln159Lys)
c.700C>A (p.Gln234Lys)
20g.17498969C>ACA408317459BFSP1c.807G>T (p.Glu269Asp)
c.390G>T (p.Glu130Asp)
c.432G>T (p.Glu144Asp)
c.474G>T (p.Glu158Asp)
c.699G>T (p.Glu233Asp)
20g.17498969C>GCA408317460BFSP1c.807G>C (p.Glu269Asp)
c.390G>C (p.Glu130Asp)
c.432G>C (p.Glu144Asp)
c.474G>C (p.Glu158Asp)
c.699G>C (p.Glu233Asp)
20g.17498969C>TCA509810286BFSP1c.807G>A (p.Glu269=)
c.390G>A (p.Glu130=)
c.432G>A (p.Glu144=)
c.474G>A (p.Glu158=)
c.699G>A (p.Glu233=)
20g.17498970T>ACA408317461BFSP1c.806A>T (p.Glu269Val)
c.389A>T (p.Glu130Val)
c.431A>T (p.Glu144Val)
c.473A>T (p.Glu158Val)
c.698A>T (p.Glu233Val)
20g.17498970T>CCA408317462BFSP1c.806A>G (p.Glu269Gly)
c.389A>G (p.Glu130Gly)
c.431A>G (p.Glu144Gly)
c.473A>G (p.Glu158Gly)
c.698A>G (p.Glu233Gly)
20g.17498970T>GCA408317463BFSP1c.806A>C (p.Glu269Ala)
c.389A>C (p.Glu130Ala)
c.431A>C (p.Glu144Ala)
c.473A>C (p.Glu158Ala)
c.698A>C (p.Glu233Ala)
20g.17498971C>ACA408317464BFSP1c.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
20g.17498971C=CA2353084878BFSP1c.805G= (p.Glu269=)
c.388G= (p.Glu130=)
c.430G= (p.Glu144=)
c.472G= (p.Glu158=)
c.697G= (p.Glu233=)
20g.17498971C>GCA408317465BFSP1c.805G>C (p.Glu269Gln)
c.388G>C (p.Glu130Gln)
c.430G>C (p.Glu144Gln)
c.472G>C (p.Glu158Gln)
c.697G>C (p.Glu233Gln)
20g.17498971C>TCA9772200BFSP1c.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
20g.17498972G>ACA9772201BFSP1c.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
20g.17498972G>CCA408317466BFSP1c.804C>G (p.Asn268Lys)
c.387C>G (p.Asn129Lys)
c.429C>G (p.Asn143Lys)
c.471C>G (p.Asn157Lys)
c.696C>G (p.Asn232Lys)
20g.17498972G=CA2353084879BFSP1c.804C= (p.Asn268=)
c.387C= (p.Asn129=)
c.429C= (p.Asn143=)
c.471C= (p.Asn157=)
c.696C= (p.Asn232=)
20g.17498972G>TCA408317467BFSP1c.804C>A (p.Asn268Lys)
c.387C>A (p.Asn129Lys)
c.429C>A (p.Asn143Lys)
c.471C>A (p.Asn157Lys)
c.696C>A (p.Asn232Lys)
20g.17498973T>ACA408317470BFSP1c.803A>T (p.Asn268Ile)
c.386A>T (p.Asn129Ile)
c.428A>T (p.Asn143Ile)
c.470A>T (p.Asn157Ile)
c.695A>T (p.Asn232Ile)
20g.17498973T>CCA408317469BFSP1c.803A>G (p.Asn268Ser)
c.386A>G (p.Asn129Ser)
c.428A>G (p.Asn143Ser)
c.470A>G (p.Asn157Ser)
c.695A>G (p.Asn232Ser)
20g.17498973T>GCA408317468BFSP1c.803A>C (p.Asn268Thr)
c.386A>C (p.Asn129Thr)
c.428A>C (p.Asn143Thr)
c.470A>C (p.Asn157Thr)
c.695A>C (p.Asn232Thr)
20g.17498974T>ACA408317471BFSP1c.802A>T (p.Asn268Tyr)
c.385A>T (p.Asn129Tyr)
c.427A>T (p.Asn143Tyr)
c.469A>T (p.Asn157Tyr)
c.694A>T (p.Asn232Tyr)
20g.17498974T>CCA408317472BFSP1c.802A>G (p.Asn268Asp)
c.385A>G (p.Asn129Asp)
c.427A>G (p.Asn143Asp)
c.469A>G (p.Asn157Asp)
c.694A>G (p.Asn232Asp)
20g.17498974T>GCA408317473BFSP1c.802A>C (p.Asn268His)
c.385A>C (p.Asn129His)
c.427A>C (p.Asn143His)
c.469A>C (p.Asn157His)
c.694A>C (p.Asn232His)
20g.17498975A=CA2353084880BFSP1c.801T= (p.Tyr267=)
c.384T= (p.Tyr128=)
c.426T= (p.Tyr142=)
c.468T= (p.Tyr156=)
c.693T= (p.Tyr231=)
20g.17498975A>CCA408317474BFSP1c.801T>G (p.Tyr267Ter)
c.384T>G (p.Tyr128Ter)
c.426T>G (p.Tyr142Ter)
c.468T>G (p.Tyr156Ter)
c.693T>G (p.Tyr231Ter)
20g.17498975A>GCA509810287BFSP1c.801T>C (p.Tyr267=)
c.384T>C (p.Tyr128=)
c.426T>C (p.Tyr142=)
c.468T>C (p.Tyr156=)
c.693T>C (p.Tyr231=)
20g.17498975A>TCA9772202BFSP1c.801T>A (p.Tyr267Ter)
c.384T>A (p.Tyr128Ter)
c.426T>A (p.Tyr142Ter)
c.468T>A (p.Tyr156Ter)
c.693T>A (p.Tyr231Ter)
 dbSNP ExAC gnomAD v4
20g.17498976T>ACA408317477BFSP1c.800A>T (p.Tyr267Phe)
c.383A>T (p.Tyr128Phe)
c.425A>T (p.Tyr142Phe)
c.467A>T (p.Tyr156Phe)
c.692A>T (p.Tyr231Phe)
20g.17498976T>CCA408317476BFSP1c.800A>G (p.Tyr267Cys)
c.383A>G (p.Tyr128Cys)
c.425A>G (p.Tyr142Cys)
c.467A>G (p.Tyr156Cys)
c.692A>G (p.Tyr231Cys)
 dbSNP gnomAD v2 gnomAD v4
20g.17498976T>GCA408317475BFSP1c.800A>C (p.Tyr267Ser)
c.383A>C (p.Tyr128Ser)
c.425A>C (p.Tyr142Ser)
c.467A>C (p.Tyr156Ser)
c.692A>C (p.Tyr231Ser)
20g.17498976T=CA2353084881BFSP1c.800A= (p.Tyr267=)
c.383A= (p.Tyr128=)
c.425A= (p.Tyr142=)
c.467A= (p.Tyr156=)
c.692A= (p.Tyr231=)
20g.17498977A=CA2353084882BFSP1c.799T= (p.Tyr267=)
c.382T= (p.Tyr128=)
c.424T= (p.Tyr142=)
c.466T= (p.Tyr156=)
c.691T= (p.Tyr231=)
20g.17498977A>CCA408317478BFSP1c.799T>G (p.Tyr267Asp)
c.382T>G (p.Tyr128Asp)
c.424T>G (p.Tyr142Asp)
c.466T>G (p.Tyr156Asp)
c.691T>G (p.Tyr231Asp)
20g.17498977A>GCA408317479BFSP1c.799T>C (p.Tyr267His)
c.382T>C (p.Tyr128His)
c.424T>C (p.Tyr142His)
c.466T>C (p.Tyr156His)
c.691T>C (p.Tyr231His)
 dbSNP gnomAD v4
20g.17498977A>TCA408317480BFSP1c.799T>A (p.Tyr267Asn)
c.382T>A (p.Tyr128Asn)
c.424T>A (p.Tyr142Asn)
c.466T>A (p.Tyr156Asn)
c.691T>A (p.Tyr231Asn)
20g.17498978A>CCA509810288BFSP1c.798T>G (p.Leu266=)
c.381T>G (p.Leu127=)
c.423T>G (p.Leu141=)
c.465T>G (p.Leu155=)
c.690T>G (p.Leu230=)
20g.17498978A>GCA509810289BFSP1c.798T>C (p.Leu266=)
c.381T>C (p.Leu127=)
c.423T>C (p.Leu141=)
c.465T>C (p.Leu155=)
c.690T>C (p.Leu230=)
20g.17498978A>TCA509810290BFSP1c.798T>A (p.Leu266=)
c.381T>A (p.Leu127=)
c.423T>A (p.Leu141=)
c.465T>A (p.Leu155=)
c.690T>A (p.Leu230=)
 COSMIC COSMIC
20g.17498979A>CCA408317481BFSP1c.797T>G (p.Leu266Arg)
c.380T>G (p.Leu127Arg)
c.422T>G (p.Leu141Arg)
c.464T>G (p.Leu155Arg)
c.689T>G (p.Leu230Arg)
20g.17498979A>GCA408317482BFSP1c.797T>C (p.Leu266Pro)
c.380T>C (p.Leu127Pro)
c.422T>C (p.Leu141Pro)
c.464T>C (p.Leu155Pro)
c.689T>C (p.Leu230Pro)
20g.17498979A>TCA408317483BFSP1c.797T>A (p.Leu266His)
c.380T>A (p.Leu127His)
c.422T>A (p.Leu141His)
c.464T>A (p.Leu155His)
c.689T>A (p.Leu230His)
20g.17498980G>ACA408317484BFSP1c.796C>T (p.Leu266Phe)
c.379C>T (p.Leu127Phe)
c.421C>T (p.Leu141Phe)
c.463C>T (p.Leu155Phe)
c.688C>T (p.Leu230Phe)
20g.17498980G>CCA408317486BFSP1c.796C>G (p.Leu266Val)
c.379C>G (p.Leu127Val)
c.421C>G (p.Leu141Val)
c.463C>G (p.Leu155Val)
c.688C>G (p.Leu230Val)
20g.17498980G>TCA408317485BFSP1c.796C>A (p.Leu266Ile)
c.379C>A (p.Leu127Ile)
c.421C>A (p.Leu141Ile)
c.463C>A (p.Leu155Ile)
c.688C>A (p.Leu230Ile)
20g.17498981C>ACA408317487BFSP1c.795G>T (p.Gln265His)
c.378G>T (p.Gln126His)
c.420G>T (p.Gln140His)
c.462G>T (p.Gln154His)
c.687G>T (p.Gln229His)
20g.17498981C>GCA408317488BFSP1c.795G>C (p.Gln265His)
c.378G>C (p.Gln126His)
c.420G>C (p.Gln140His)
c.462G>C (p.Gln154His)
c.687G>C (p.Gln229His)
20g.17498981C>TCA509810291BFSP1c.795G>A (p.Gln265=)
c.378G>A (p.Gln126=)
c.420G>A (p.Gln140=)
c.462G>A (p.Gln154=)
c.687G>A (p.Gln229=)
20g.17498982T>ACA408317489BFSP1c.794A>T (p.Gln265Leu)
c.377A>T (p.Gln126Leu)
c.419A>T (p.Gln140Leu)
c.461A>T (p.Gln154Leu)
c.686A>T (p.Gln229Leu)
20g.17498982T>CCA408317490BFSP1c.794A>G (p.Gln265Arg)
c.377A>G (p.Gln126Arg)
c.419A>G (p.Gln140Arg)
c.461A>G (p.Gln154Arg)
c.686A>G (p.Gln229Arg)
20g.17498982T>GCA408317491BFSP1c.794A>C (p.Gln265Pro)
c.377A>C (p.Gln126Pro)
c.419A>C (p.Gln140Pro)
c.461A>C (p.Gln154Pro)
c.686A>C (p.Gln229Pro)
20g.17498983G>ACA9772203BFSP1c.793C>T (p.Gln265Ter)
c.376C>T (p.Gln126Ter)
c.418C>T (p.Gln140Ter)
c.460C>T (p.Gln154Ter)
c.685C>T (p.Gln229Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.17498983G>CCA408317492BFSP1c.793C>G (p.Gln265Glu)
c.376C>G (p.Gln126Glu)
c.418C>G (p.Gln140Glu)
c.460C>G (p.Gln154Glu)
c.685C>G (p.Gln229Glu)
 gnomAD v4
20g.17498983G=CA2353084883BFSP1c.793C= (p.Gln265=)
c.376C= (p.Gln126=)
c.418C= (p.Gln140=)
c.460C= (p.Gln154=)
c.685C= (p.Gln229=)
20g.17498983G>TCA408317493BFSP1c.793C>A (p.Gln265Lys)
c.376C>A (p.Gln126Lys)
c.418C>A (p.Gln140Lys)
c.460C>A (p.Gln154Lys)
c.685C>A (p.Gln229Lys)
20g.17498984A>CCA408317494BFSP1c.792T>G (p.Ile264Met)
c.375T>G (p.Ile125Met)
c.417T>G (p.Ile139Met)
c.459T>G (p.Ile153Met)
c.684T>G (p.Ile228Met)
20g.17498984A>GCA509810292BFSP1c.792T>C (p.Ile264=)
c.375T>C (p.Ile125=)
c.417T>C (p.Ile139=)
c.459T>C (p.Ile153=)
c.684T>C (p.Ile228=)
20g.17498984A>TCA509810293BFSP1c.792T>A (p.Ile264=)
c.375T>A (p.Ile125=)
c.417T>A (p.Ile139=)
c.459T>A (p.Ile153=)
c.684T>A (p.Ile228=)
20g.17498985A=CA2353084884BFSP1c.791T= (p.Ile264=)
c.374T= (p.Ile125=)
c.416T= (p.Ile139=)
c.458T= (p.Ile153=)
c.683T= (p.Ile228=)
20g.17498985A>CCA408317495BFSP1c.791T>G (p.Ile264Ser)
c.374T>G (p.Ile125Ser)
c.416T>G (p.Ile139Ser)
c.458T>G (p.Ile153Ser)
c.683T>G (p.Ile228Ser)
20g.17498985A>GCA408317496BFSP1c.791T>C (p.Ile264Thr)
c.374T>C (p.Ile125Thr)
c.416T>C (p.Ile139Thr)
c.458T>C (p.Ile153Thr)
c.683T>C (p.Ile228Thr)
 dbSNP gnomAD v3 gnomAD v4
20g.17498985A>TCA408317497BFSP1c.791T>A (p.Ile264Asn)
c.374T>A (p.Ile125Asn)
c.416T>A (p.Ile139Asn)
c.458T>A (p.Ile153Asn)
c.683T>A (p.Ile228Asn)
20g.17498986T>ACA408317499BFSP1c.790A>T (p.Ile264Phe)
c.373A>T (p.Ile125Phe)
c.415A>T (p.Ile139Phe)
c.457A>T (p.Ile153Phe)
c.682A>T (p.Ile228Phe)
20g.17498986T>CCA408317500BFSP1c.790A>G (p.Ile264Val)
c.373A>G (p.Ile125Val)
c.415A>G (p.Ile139Val)
c.457A>G (p.Ile153Val)
c.682A>G (p.Ile228Val)
20g.17498986T>GCA408317498BFSP1c.790A>C (p.Ile264Leu)
c.373A>C (p.Ile125Leu)
c.415A>C (p.Ile139Leu)
c.457A>C (p.Ile153Leu)
c.682A>C (p.Ile228Leu)
20g.17498987C>ACA408317502BFSP1c.789G>T (p.Glu263Asp)
c.372G>T (p.Glu124Asp)
c.414G>T (p.Glu138Asp)
c.456G>T (p.Glu152Asp)
c.681G>T (p.Glu227Asp)
20g.17498987C=CA2353084885BFSP1c.789G= (p.Glu263=)
c.372G= (p.Glu124=)
c.414G= (p.Glu138=)
c.456G= (p.Glu152=)
c.681G= (p.Glu227=)
20g.17498987C>GCA408317501BFSP1c.789G>C (p.Glu263Asp)
c.372G>C (p.Glu124Asp)
c.414G>C (p.Glu138Asp)
c.456G>C (p.Glu152Asp)
c.681G>C (p.Glu227Asp)
20g.17498987C>TCA312242341BFSP1c.789G>A (p.Glu263=)
c.372G>A (p.Glu124=)
c.414G>A (p.Glu138=)
c.456G>A (p.Glu152=)
c.681G>A (p.Glu227=)
 dbSNP gnomAD v2 gnomAD v4
20g.17498988T>ACA408317503BFSP1c.788A>T (p.Glu263Val)
c.371A>T (p.Glu124Val)
c.413A>T (p.Glu138Val)
c.455A>T (p.Glu152Val)
c.680A>T (p.Glu227Val)
20g.17498988T>CCA408317505BFSP1c.788A>G (p.Glu263Gly)
c.371A>G (p.Glu124Gly)
c.413A>G (p.Glu138Gly)
c.455A>G (p.Glu152Gly)
c.680A>G (p.Glu227Gly)
20g.17498988T>GCA408317504BFSP1c.788A>C (p.Glu263Ala)
c.371A>C (p.Glu124Ala)
c.413A>C (p.Glu138Ala)
c.455A>C (p.Glu152Ala)
c.680A>C (p.Glu227Ala)
20g.17498989C>ACA408317506BFSP1c.787G>T (p.Glu263Ter)
c.370G>T (p.Glu124Ter)
c.412G>T (p.Glu138Ter)
c.454G>T (p.Glu152Ter)
c.679G>T (p.Glu227Ter)
20g.17498989C>GCA408317508BFSP1c.787G>C (p.Glu263Gln)
c.370G>C (p.Glu124Gln)
c.412G>C (p.Glu138Gln)
c.454G>C (p.Glu152Gln)
c.679G>C (p.Glu227Gln)
20g.17498989C>TCA408317507BFSP1c.787G>A (p.Glu263Lys)
c.370G>A (p.Glu124Lys)
c.412G>A (p.Glu138Lys)
c.454G>A (p.Glu152Lys)
c.679G>A (p.Glu227Lys)
20g.17498990A=CA2353084886BFSP1c.786T= (p.Asp262=)
c.369T= (p.Asp123=)
c.411T= (p.Asp137=)
c.453T= (p.Asp151=)
c.678T= (p.Asp226=)
20g.17498990A>CCA408317509BFSP1c.786T>G (p.Asp262Glu)
c.369T>G (p.Asp123Glu)
c.411T>G (p.Asp137Glu)
c.453T>G (p.Asp151Glu)
c.678T>G (p.Asp226Glu)
 gnomAD v4
20g.17498990A>GCA312242343BFSP1c.786T>C (p.Asp262=)
c.369T>C (p.Asp123=)
c.411T>C (p.Asp137=)
c.453T>C (p.Asp151=)
c.678T>C (p.Asp226=)
 dbSNP gnomAD v2 gnomAD v4
20g.17498990A>TCA408317510BFSP1c.786T>A (p.Asp262Glu)
c.369T>A (p.Asp123Glu)
c.411T>A (p.Asp137Glu)
c.453T>A (p.Asp151Glu)
c.678T>A (p.Asp226Glu)
20g.17498991T>ACA408317511BFSP1c.785A>T (p.Asp262Val)
c.368A>T (p.Asp123Val)
c.410A>T (p.Asp137Val)
c.452A>T (p.Asp151Val)
c.677A>T (p.Asp226Val)
20g.17498991T>CCA408317512BFSP1c.785A>G (p.Asp262Gly)
c.368A>G (p.Asp123Gly)
c.410A>G (p.Asp137Gly)
c.452A>G (p.Asp151Gly)
c.677A>G (p.Asp226Gly)
 gnomAD v4
20g.17498991T>GCA408317513BFSP1c.785A>C (p.Asp262Ala)
c.368A>C (p.Asp123Ala)
c.410A>C (p.Asp137Ala)
c.452A>C (p.Asp151Ala)
c.677A>C (p.Asp226Ala)
20g.17498992C>ACA408317514BFSP1c.784G>T (p.Asp262Tyr)
c.367G>T (p.Asp123Tyr)
c.409G>T (p.Asp137Tyr)
c.451G>T (p.Asp151Tyr)
c.676G>T (p.Asp226Tyr)
20g.17498992C=CA2353084887BFSP1c.784G= (p.Asp262=)
c.367G= (p.Asp123=)
c.409G= (p.Asp137=)
c.451G= (p.Asp151=)
c.676G= (p.Asp226=)
20g.17498992C>GCA408317515BFSP1c.784G>C (p.Asp262His)
c.367G>C (p.Asp123His)
c.409G>C (p.Asp137His)
c.451G>C (p.Asp151His)
c.676G>C (p.Asp226His)
20g.17498992C>TCA9772204BFSP1c.784G>A (p.Asp262Asn)
c.367G>A (p.Asp123Asn)
c.409G>A (p.Asp137Asn)
c.451G>A (p.Asp151Asn)
c.676G>A (p.Asp226Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.17498993G>ACA9772205BFSP1c.783C>T (p.Asp261=)
c.366C>T (p.Asp122=)
c.408C>T (p.Asp136=)
c.450C>T (p.Asp150=)
c.675C>T (p.Asp225=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.17498993G>CCA408317517BFSP1c.783C>G (p.Asp261Glu)
c.366C>G (p.Asp122Glu)
c.408C>G (p.Asp136Glu)
c.450C>G (p.Asp150Glu)
c.675C>G (p.Asp225Glu)
20g.17498993G=CA2353084888BFSP1c.783C= (p.Asp261=)
c.366C= (p.Asp122=)
c.408C= (p.Asp136=)
c.450C= (p.Asp150=)
c.675C= (p.Asp225=)
20g.17498993G>TCA408317516BFSP1c.783C>A (p.Asp261Glu)
c.366C>A (p.Asp122Glu)
c.408C>A (p.Asp136Glu)
c.450C>A (p.Asp150Glu)
c.675C>A (p.Asp225Glu)
20g.17498994T>ACA408317518BFSP1c.782A>T (p.Asp261Val)
c.365A>T (p.Asp122Val)
c.407A>T (p.Asp136Val)
c.449A>T (p.Asp150Val)
c.674A>T (p.Asp225Val)
20g.17498994T>CCA408317519BFSP1c.782A>G (p.Asp261Gly)
c.365A>G (p.Asp122Gly)
c.407A>G (p.Asp136Gly)
c.449A>G (p.Asp150Gly)
c.674A>G (p.Asp225Gly)
 dbSNP gnomAD v3 gnomAD v4
20g.17498994T>GCA408317520BFSP1c.782A>C (p.Asp261Ala)
c.365A>C (p.Asp122Ala)
c.407A>C (p.Asp136Ala)
c.449A>C (p.Asp150Ala)
c.674A>C (p.Asp225Ala)
20g.17498994T=CA2353084889BFSP1c.782A= (p.Asp261=)
c.365A= (p.Asp122=)
c.407A= (p.Asp136=)
c.449A= (p.Asp150=)
c.674A= (p.Asp225=)
20g.17498995C>ACA408317521BFSP1c.781G>T (p.Asp261Tyr)
c.364G>T (p.Asp122Tyr)
c.406G>T (p.Asp136Tyr)
c.448G>T (p.Asp150Tyr)
c.673G>T (p.Asp225Tyr)
20g.17498995C>GCA408317522BFSP1c.781G>C (p.Asp261His)
c.364G>C (p.Asp122His)
c.406G>C (p.Asp136His)
c.448G>C (p.Asp150His)
c.673G>C (p.Asp225His)
20g.17498995C>TCA408317523BFSP1c.781G>A (p.Asp261Asn)
c.364G>A (p.Asp122Asn)
c.406G>A (p.Asp136Asn)
c.448G>A (p.Asp150Asn)
c.673G>A (p.Asp225Asn)
20g.17498996A=CA2353084890BFSP1c.780T= (p.Tyr260=)
c.363T= (p.Tyr121=)
c.405T= (p.Tyr135=)
c.447T= (p.Tyr149=)
c.672T= (p.Tyr224=)
20g.17498996A>CCA9772206BFSP1c.780T>G (p.Tyr260Ter)
c.363T>G (p.Tyr121Ter)
c.405T>G (p.Tyr135Ter)
c.447T>G (p.Tyr149Ter)
c.672T>G (p.Tyr224Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.17498996A>GCA509810294BFSP1c.780T>C (p.Tyr260=)
c.363T>C (p.Tyr121=)
c.405T>C (p.Tyr135=)
c.447T>C (p.Tyr149=)
c.672T>C (p.Tyr224=)
 dbSNP gnomAD v2 gnomAD v4
20g.17498996A>TCA408317525BFSP1c.780T>A (p.Tyr260Ter)
c.363T>A (p.Tyr121Ter)
c.405T>A (p.Tyr135Ter)
c.447T>A (p.Tyr149Ter)
c.672T>A (p.Tyr224Ter)
20g.17498997T>ACA408317526BFSP1c.779A>T (p.Tyr260Phe)
c.362A>T (p.Tyr121Phe)
c.404A>T (p.Tyr135Phe)
c.446A>T (p.Tyr149Phe)
c.671A>T (p.Tyr224Phe)
20g.17498997T>CCA408317528BFSP1c.779A>G (p.Tyr260Cys)
c.362A>G (p.Tyr121Cys)
c.404A>G (p.Tyr135Cys)
c.446A>G (p.Tyr149Cys)
c.671A>G (p.Tyr224Cys)
20g.17498997T>GCA408317530BFSP1c.779A>C (p.Tyr260Ser)
c.362A>C (p.Tyr121Ser)
c.404A>C (p.Tyr135Ser)
c.446A>C (p.Tyr149Ser)
c.671A>C (p.Tyr224Ser)
20g.17498998A>CCA408317534BFSP1c.778T>G (p.Tyr260Asp)
c.361T>G (p.Tyr121Asp)
c.403T>G (p.Tyr135Asp)
c.445T>G (p.Tyr149Asp)
c.670T>G (p.Tyr224Asp)
 gnomAD v4
20g.17498998A>GCA408317536BFSP1c.778T>C (p.Tyr260His)
c.361T>C (p.Tyr121His)
c.403T>C (p.Tyr135His)
c.445T>C (p.Tyr149His)
c.670T>C (p.Tyr224His)
20g.17498998A>TCA408317532BFSP1c.778T>A (p.Tyr260Asn)
c.361T>A (p.Tyr121Asn)
c.403T>A (p.Tyr135Asn)
c.445T>A (p.Tyr149Asn)
c.670T>A (p.Tyr224Asn)
20g.17498998_17499000delinsAACCA2353084891BFSP1c.776_778delinsGTT (p.Cys259=)
c.359_361delinsGTT (p.Cys120=)
c.401_403delinsGTT (p.Cys134=)
c.443_445delinsGTT (p.Cys148=)
c.668_670delinsGTT (p.Cys223=)
20g.17498999A>CCA408317538BFSP1c.777T>G (p.Cys259Trp)
c.360T>G (p.Cys120Trp)
c.402T>G (p.Cys134Trp)
c.444T>G (p.Cys148Trp)
c.669T>G (p.Cys223Trp)
20g.17498999A>GCA509810295BFSP1c.777T>C (p.Cys259=)
c.360T>C (p.Cys120=)
c.402T>C (p.Cys134=)
c.444T>C (p.Cys148=)
c.669T>C (p.Cys223=)
20g.17498999A>TCA408317540BFSP1c.777T>A (p.Cys259Ter)
c.360T>A (p.Cys120Ter)
c.402T>A (p.Cys134Ter)
c.444T>A (p.Cys148Ter)
c.669T>A (p.Cys223Ter)
20g.17499001_17499002delCA1015849525BFSP1c.776_777del (p.Cys259LeufsTer2)
c.359_360del (p.Cys120LeufsTer2)
c.401_402del (p.Cys134LeufsTer2)
c.443_444del (p.Cys148LeufsTer2)
c.668_669del (p.Cys223LeufsTer2)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.17499000C>ACA408317542BFSP1c.776G>T (p.Cys259Phe)
c.359G>T (p.Cys120Phe)
c.401G>T (p.Cys134Phe)
c.443G>T (p.Cys148Phe)
c.668G>T (p.Cys223Phe)
20g.17499000C=CA2353084892BFSP1c.776G= (p.Cys259=)
c.359G= (p.Cys120=)
c.401G= (p.Cys134=)
c.443G= (p.Cys148=)
c.668G= (p.Cys223=)
20g.17499000C>GCA145189BFSP1c.776G>C (p.Cys259Ser)
c.359G>C (p.Cys120Ser)
c.401G>C (p.Cys134Ser)
c.443G>C (p.Cys148Ser)
c.668G>C (p.Cys223Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.17499000C>TCA408317544BFSP1c.776G>A (p.Cys259Tyr)
c.359G>A (p.Cys120Tyr)
c.401G>A (p.Cys134Tyr)
c.443G>A (p.Cys148Tyr)
c.668G>A (p.Cys223Tyr)
20g.17499001A>CCA408317550BFSP1c.775T>G (p.Cys259Gly)
c.358T>G (p.Cys120Gly)
c.400T>G (p.Cys134Gly)
c.442T>G (p.Cys148Gly)
c.667T>G (p.Cys223Gly)
20g.17499001A>GCA408317547BFSP1c.775T>C (p.Cys259Arg)
c.358T>C (p.Cys120Arg)
c.400T>C (p.Cys134Arg)
c.442T>C (p.Cys148Arg)
c.667T>C (p.Cys223Arg)
20g.17499001A>TCA408317549BFSP1c.775T>A (p.Cys259Ser)
c.358T>A (p.Cys120Ser)
c.400T>A (p.Cys134Ser)
c.442T>A (p.Cys148Ser)
c.667T>A (p.Cys223Ser)
20g.17499002C>ACA408317552BFSP1c.774G>T (p.Glu258Asp)
c.357G>T (p.Glu119Asp)
c.399G>T (p.Glu133Asp)
c.441G>T (p.Glu147Asp)
c.666G>T (p.Glu222Asp)
20g.17499002C=CA2353084893BFSP1c.774G= (p.Glu258=)
c.357G= (p.Glu119=)
c.399G= (p.Glu133=)
c.441G= (p.Glu147=)
c.666G= (p.Glu222=)
20g.17499002C>GCA408317554BFSP1c.774G>C (p.Glu258Asp)
c.357G>C (p.Glu119Asp)
c.399G>C (p.Glu133Asp)
c.441G>C (p.Glu147Asp)
c.666G>C (p.Glu222Asp)
 dbSNP gnomAD v2 gnomAD v4
20g.17499002C>TCA509810296BFSP1c.774G>A (p.Glu258=)
c.357G>A (p.Glu119=)
c.399G>A (p.Glu133=)
c.441G>A (p.Glu147=)
c.666G>A (p.Glu222=)
 gnomAD v4
20g.17499003T>ACA408317556BFSP1c.773A>T (p.Glu258Val)
c.356A>T (p.Glu119Val)
c.398A>T (p.Glu133Val)
c.440A>T (p.Glu147Val)
c.665A>T (p.Glu222Val)
20g.17499003T>CCA408317558BFSP1c.773A>G (p.Glu258Gly)
c.356A>G (p.Glu119Gly)
c.398A>G (p.Glu133Gly)
c.440A>G (p.Glu147Gly)
c.665A>G (p.Glu222Gly)
 COSMIC COSMIC
20g.17499003T>GCA408317560BFSP1c.773A>C (p.Glu258Ala)
c.356A>C (p.Glu119Ala)
c.398A>C (p.Glu133Ala)
c.440A>C (p.Glu147Ala)
c.665A>C (p.Glu222Ala)
20g.17499004C>ACA408317562BFSP1c.772G>T (p.Glu258Ter)
c.355G>T (p.Glu119Ter)
c.397G>T (p.Glu133Ter)
c.439G>T (p.Glu147Ter)
c.664G>T (p.Glu222Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.17499004C=CA2353084894BFSP1c.772G= (p.Glu258=)
c.355G= (p.Glu119=)
c.397G= (p.Glu133=)
c.439G= (p.Glu147=)
c.664G= (p.Glu222=)
20g.17499004C>GCA408317565BFSP1c.772G>C (p.Glu258Gln)
c.355G>C (p.Glu119Gln)
c.397G>C (p.Glu133Gln)
c.439G>C (p.Glu147Gln)
c.664G>C (p.Glu222Gln)
 gnomAD v4
20g.17499004C>TCA408317563BFSP1c.772G>A (p.Glu258Lys)
c.355G>A (p.Glu119Lys)
c.397G>A (p.Glu133Lys)
c.439G>A (p.Glu147Lys)
c.664G>A (p.Glu222Lys)
20g.17499005A>CCA408317566BFSP1c.771T>G (p.His257Gln)
c.354T>G (p.His118Gln)
c.396T>G (p.His132Gln)
c.438T>G (p.His146Gln)
c.663T>G (p.His221Gln)
20g.17499005A>GCA509810297BFSP1c.771T>C (p.His257=)
c.354T>C (p.His118=)
c.396T>C (p.His132=)
c.438T>C (p.His146=)
c.663T>C (p.His221=)
 gnomAD v4
20g.17499005A>TCA408317568BFSP1c.771T>A (p.His257Gln)
c.354T>A (p.His118Gln)
c.396T>A (p.His132Gln)
c.438T>A (p.His146Gln)
c.663T>A (p.His221Gln)
20g.17499006T>ACA408317570BFSP1c.770A>T (p.His257Leu)
c.353A>T (p.His118Leu)
c.395A>T (p.His132Leu)
c.437A>T (p.His146Leu)
c.662A>T (p.His221Leu)
 gnomAD v4
20g.17499006T>CCA312242357BFSP1c.770A>G (p.His257Arg)
c.353A>G (p.His118Arg)
c.395A>G (p.His132Arg)
c.437A>G (p.His146Arg)
c.662A>G (p.His221Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.17499006T>GCA408317572BFSP1c.770A>C (p.His257Pro)
c.353A>C (p.His118Pro)
c.395A>C (p.His132Pro)
c.437A>C (p.His146Pro)
c.662A>C (p.His221Pro)
 gnomAD v4
20g.17499006T=CA2353084895BFSP1c.770A= (p.His257=)
c.353A= (p.His118=)
c.395A= (p.His132=)
c.437A= (p.His146=)
c.662A= (p.His221=)
20g.17499007G>ACA408317574BFSP1c.769C>T (p.His257Tyr)
c.352C>T (p.His118Tyr)
c.394C>T (p.His132Tyr)
c.436C>T (p.His146Tyr)
c.661C>T (p.His221Tyr)
 dbSNP gnomAD v3 gnomAD v4
20g.17499007G>CCA408317575BFSP1c.769C>G (p.His257Asp)
c.352C>G (p.His118Asp)
c.394C>G (p.His132Asp)
c.436C>G (p.His146Asp)
c.661C>G (p.His221Asp)
20g.17499007G=CA2353084896BFSP1c.769C= (p.His257=)
c.352C= (p.His118=)
c.394C= (p.His132=)
c.436C= (p.His146=)
c.661C= (p.His221=)
20g.17499007G>TCA408317577BFSP1c.769C>A (p.His257Asn)
c.352C>A (p.His118Asn)
c.394C>A (p.His132Asn)
c.436C>A (p.His146Asn)
c.661C>A (p.His221Asn)
20g.17499008G>ACA509810298BFSP1c.768C>T (p.Ala256=)
c.351C>T (p.Ala117=)
c.393C>T (p.Ala131=)
c.435C>T (p.Ala145=)
c.660C>T (p.Ala220=)
20g.17499008G>CCA509810299BFSP1c.768C>G (p.Ala256=)
c.351C>G (p.Ala117=)
c.393C>G (p.Ala131=)
c.435C>G (p.Ala145=)
c.660C>G (p.Ala220=)
20g.17499008G>TCA509810300BFSP1c.768C>A (p.Ala256=)
c.351C>A (p.Ala117=)
c.393C>A (p.Ala131=)
c.435C>A (p.Ala145=)
c.660C>A (p.Ala220=)
20g.17499009G>ACA408317578BFSP1c.767C>T (p.Ala256Val)
c.350C>T (p.Ala117Val)
c.392C>T (p.Ala131Val)
c.434C>T (p.Ala145Val)
c.659C>T (p.Ala220Val)
20g.17499009G>CCA408317580BFSP1c.767C>G (p.Ala256Gly)
c.350C>G (p.Ala117Gly)
c.392C>G (p.Ala131Gly)
c.434C>G (p.Ala145Gly)
c.659C>G (p.Ala220Gly)
20g.17499009G>TCA408317582BFSP1c.767C>A (p.Ala256Asp)
c.350C>A (p.Ala117Asp)
c.392C>A (p.Ala131Asp)
c.434C>A (p.Ala145Asp)
c.659C>A (p.Ala220Asp)
20g.17499010C>ACA408317587BFSP1c.766G>T (p.Ala256Ser)
c.349G>T (p.Ala117Ser)
c.391G>T (p.Ala131Ser)
c.433G>T (p.Ala145Ser)
c.658G>T (p.Ala220Ser)
20g.17499010C>GCA408317588BFSP1c.766G>C (p.Ala256Pro)
c.349G>C (p.Ala117Pro)
c.391G>C (p.Ala131Pro)
c.433G>C (p.Ala145Pro)
c.658G>C (p.Ala220Pro)
20g.17499010C>TCA408317584BFSP1c.766G>A (p.Ala256Thr)
c.349G>A (p.Ala117Thr)
c.391G>A (p.Ala131Thr)
c.433G>A (p.Ala145Thr)
c.658G>A (p.Ala220Thr)
 ClinVar gnomAD v4
20g.17499011A=CA2353084897BFSP1c.765T= (p.Ser255=)
c.348T= (p.Ser116=)
c.390T= (p.Ser130=)
c.432T= (p.Ser144=)
c.657T= (p.Ser219=)
20g.17499011A>CCA408317592BFSP1c.765T>G (p.Ser255Arg)
c.348T>G (p.Ser116Arg)
c.390T>G (p.Ser130Arg)
c.432T>G (p.Ser144Arg)
c.657T>G (p.Ser219Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.17499011A>GCA509810301BFSP1c.765T>C (p.Ser255=)
c.348T>C (p.Ser116=)
c.390T>C (p.Ser130=)
c.432T>C (p.Ser144=)
c.657T>C (p.Ser219=)
20g.17499011A>TCA408317590BFSP1c.765T>A (p.Ser255Arg)
c.348T>A (p.Ser116Arg)
c.390T>A (p.Ser130Arg)
c.432T>A (p.Ser144Arg)
c.657T>A (p.Ser219Arg)
20g.17499012C>ACA408317595BFSP1c.764G>T (p.Ser255Ile)
c.347G>T (p.Ser116Ile)
c.389G>T (p.Ser130Ile)
c.431G>T (p.Ser144Ile)
c.656G>T (p.Ser219Ile)
 gnomAD v4
20g.17499012C=CA2353084898BFSP1c.764G= (p.Ser255=)
c.347G= (p.Ser116=)
c.389G= (p.Ser130=)
c.431G= (p.Ser144=)
c.656G= (p.Ser219=)
20g.17499012C>GCA408317596BFSP1c.764G>C (p.Ser255Thr)
c.347G>C (p.Ser116Thr)
c.389G>C (p.Ser130Thr)
c.431G>C (p.Ser144Thr)
c.656G>C (p.Ser219Thr)
 dbSNP
20g.17499012C>TCA408317598BFSP1c.764G>A (p.Ser255Asn)
c.347G>A (p.Ser116Asn)
c.389G>A (p.Ser130Asn)
c.431G>A (p.Ser144Asn)
c.656G>A (p.Ser219Asn)
20g.17499013T>ACA408317600BFSP1c.763A>T (p.Ser255Cys)
c.346A>T (p.Ser116Cys)
c.388A>T (p.Ser130Cys)
c.430A>T (p.Ser144Cys)
c.655A>T (p.Ser219Cys)
20g.17499013T>CCA408317602BFSP1c.763A>G (p.Ser255Gly)
c.346A>G (p.Ser116Gly)
c.388A>G (p.Ser130Gly)
c.430A>G (p.Ser144Gly)
c.655A>G (p.Ser219Gly)
 gnomAD v4
20g.17499013T>GCA408317604BFSP1c.763A>C (p.Ser255Arg)
c.346A>C (p.Ser116Arg)
c.388A>C (p.Ser130Arg)
c.430A>C (p.Ser144Arg)
c.655A>C (p.Ser219Arg)
20g.17499014T>ACA408317605BFSP1c.762A>T (p.Lys254Asn)
c.345A>T (p.Lys115Asn)
c.387A>T (p.Lys129Asn)
c.429A>T (p.Lys143Asn)
c.654A>T (p.Lys218Asn)
20g.17499014T>CCA9772207BFSP1c.762A>G (p.Lys254=)
c.345A>G (p.Lys115=)
c.387A>G (p.Lys129=)
c.429A>G (p.Lys143=)
c.654A>G (p.Lys218=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.17499014T>GCA408317607BFSP1c.762A>C (p.Lys254Asn)
c.345A>C (p.Lys115Asn)
c.387A>C (p.Lys129Asn)
c.429A>C (p.Lys143Asn)
c.654A>C (p.Lys218Asn)
20g.17499014T=CA2353084899BFSP1c.762A= (p.Lys254=)
c.345A= (p.Lys115=)
c.387A= (p.Lys129=)
c.429A= (p.Lys143=)
c.654A= (p.Lys218=)
20g.17499015T>ACA408317609BFSP1c.761A>T (p.Lys254Ile)
c.344A>T (p.Lys115Ile)
c.386A>T (p.Lys129Ile)
c.428A>T (p.Lys143Ile)
c.653A>T (p.Lys218Ile)
20g.17499015T>CCA408317611BFSP1c.761A>G (p.Lys254Arg)
c.344A>G (p.Lys115Arg)
c.386A>G (p.Lys129Arg)
c.428A>G (p.Lys143Arg)
c.653A>G (p.Lys218Arg)
20g.17499015T>GCA408317612BFSP1c.761A>C (p.Lys254Thr)
c.344A>C (p.Lys115Thr)
c.386A>C (p.Lys129Thr)
c.428A>C (p.Lys143Thr)
c.653A>C (p.Lys218Thr)
 gnomAD v4
20g.17499016T>ACA408317614BFSP1c.760A>T (p.Lys254Ter)
c.343A>T (p.Lys115Ter)
c.385A>T (p.Lys129Ter)
c.427A>T (p.Lys143Ter)
c.652A>T (p.Lys218Ter)
20g.17499016T>CCA408317618BFSP1c.760A>G (p.Lys254Glu)
c.343A>G (p.Lys115Glu)
c.385A>G (p.Lys129Glu)
c.427A>G (p.Lys143Glu)
c.652A>G (p.Lys218Glu)
20g.17499016T>GCA408317616BFSP1c.760A>C (p.Lys254Gln)
c.343A>C (p.Lys115Gln)
c.385A>C (p.Lys129Gln)
c.427A>C (p.Lys143Gln)
c.652A>C (p.Lys218Gln)
20g.17499017A>CCA408317619BFSP1c.759T>G (p.Ile253Met)
c.342T>G (p.Ile114Met)
c.384T>G (p.Ile128Met)
c.426T>G (p.Ile142Met)
c.651T>G (p.Ile217Met)
20g.17499017A>GCA509810302BFSP1c.759T>C (p.Ile253=)
c.342T>C (p.Ile114=)
c.384T>C (p.Ile128=)
c.426T>C (p.Ile142=)
c.651T>C (p.Ile217=)
20g.17499017A>TCA509810303BFSP1c.759T>A (p.Ile253=)
c.342T>A (p.Ile114=)
c.384T>A (p.Ile128=)
c.426T>A (p.Ile142=)
c.651T>A (p.Ile217=)
20g.17499018A>CCA408317622BFSP1c.758T>G (p.Ile253Ser)
c.341T>G (p.Ile114Ser)
c.383T>G (p.Ile128Ser)
c.425T>G (p.Ile142Ser)
c.650T>G (p.Ile217Ser)
20g.17499018A>GCA408317623BFSP1c.758T>C (p.Ile253Thr)
c.341T>C (p.Ile114Thr)
c.383T>C (p.Ile128Thr)
c.425T>C (p.Ile142Thr)
c.650T>C (p.Ile217Thr)
 gnomAD v4
20g.17499018A>TCA408317625BFSP1c.758T>A (p.Ile253Asn)
c.341T>A (p.Ile114Asn)
c.383T>A (p.Ile128Asn)
c.425T>A (p.Ile142Asn)
c.650T>A (p.Ile217Asn)
20g.17499019T>ACA408317627BFSP1c.757A>T (p.Ile253Phe)
c.340A>T (p.Ile114Phe)
c.382A>T (p.Ile128Phe)
c.424A>T (p.Ile142Phe)
c.649A>T (p.Ile217Phe)
20g.17499019T>CCA408317628BFSP1c.757A>G (p.Ile253Val)
c.340A>G (p.Ile114Val)
c.382A>G (p.Ile128Val)
c.424A>G (p.Ile142Val)
c.649A>G (p.Ile217Val)
20g.17499019T>GCA408317629BFSP1c.757A>C (p.Ile253Leu)
c.340A>C (p.Ile114Leu)
c.382A>C (p.Ile128Leu)
c.424A>C (p.Ile142Leu)
c.649A>C (p.Ile217Leu)
20g.17499020A>CCA509810306BFSP1c.756T>G (p.Ala252=)
c.339T>G (p.Ala113=)
c.381T>G (p.Ala127=)
c.423T>G (p.Ala141=)
c.648T>G (p.Ala216=)
20g.17499020A>GCA509810304BFSP1c.756T>C (p.Ala252=)
c.339T>C (p.Ala113=)
c.381T>C (p.Ala127=)
c.423T>C (p.Ala141=)
c.648T>C (p.Ala216=)
20g.17499020A>TCA509810305BFSP1c.756T>A (p.Ala252=)
c.339T>A (p.Ala113=)
c.381T>A (p.Ala127=)
c.423T>A (p.Ala141=)
c.648T>A (p.Ala216=)
20g.17499021G>ACA408317631BFSP1c.755C>T (p.Ala252Val)
c.338C>T (p.Ala113Val)
c.380C>T (p.Ala127Val)
c.422C>T (p.Ala141Val)
c.647C>T (p.Ala216Val)
20g.17499021G>CCA408317633BFSP1c.755C>G (p.Ala252Gly)
c.338C>G (p.Ala113Gly)
c.380C>G (p.Ala127Gly)
c.422C>G (p.Ala141Gly)
c.647C>G (p.Ala216Gly)
20g.17499021G>TCA408317634BFSP1c.755C>A (p.Ala252Asp)
c.338C>A (p.Ala113Asp)
c.380C>A (p.Ala127Asp)
c.422C>A (p.Ala141Asp)
c.647C>A (p.Ala216Asp)
20g.17499022C>ACA408317638BFSP1c.754G>T (p.Ala252Ser)
c.337G>T (p.Ala113Ser)
c.379G>T (p.Ala127Ser)
c.421G>T (p.Ala141Ser)
c.646G>T (p.Ala216Ser)
20g.17499022C>GCA408317640BFSP1c.754G>C (p.Ala252Pro)
c.337G>C (p.Ala113Pro)
c.379G>C (p.Ala127Pro)
c.421G>C (p.Ala141Pro)
c.646G>C (p.Ala216Pro)
20g.17499022C>TCA408317636BFSP1c.754G>A (p.Ala252Thr)
c.337G>A (p.Ala113Thr)
c.379G>A (p.Ala127Thr)
c.421G>A (p.Ala141Thr)
c.646G>A (p.Ala216Thr)
20g.17499023T>ACA408317642BFSP1c.753A>T (p.Gln251His)
c.336A>T (p.Gln112His)
c.378A>T (p.Gln126His)
c.420A>T (p.Gln140His)
c.645A>T (p.Gln215His)
20g.17499023T>CCA509810307BFSP1c.753A>G (p.Gln251=)
c.336A>G (p.Gln112=)
c.378A>G (p.Gln126=)
c.420A>G (p.Gln140=)
c.645A>G (p.Gln215=)
20g.17499023T>GCA408317644BFSP1c.753A>C (p.Gln251His)
c.336A>C (p.Gln112His)
c.378A>C (p.Gln126His)
c.420A>C (p.Gln140His)
c.645A>C (p.Gln215His)
20g.17499024T>ACA408317646BFSP1c.752A>T (p.Gln251Leu)
c.335A>T (p.Gln112Leu)
c.377A>T (p.Gln126Leu)
c.419A>T (p.Gln140Leu)
c.644A>T (p.Gln215Leu)
20g.17499024T>CCA408317648BFSP1c.752A>G (p.Gln251Arg)
c.335A>G (p.Gln112Arg)
c.377A>G (p.Gln126Arg)
c.419A>G (p.Gln140Arg)
c.644A>G (p.Gln215Arg)
 gnomAD v4
20g.17499024T>GCA408317649BFSP1c.752A>C (p.Gln251Pro)
c.335A>C (p.Gln112Pro)
c.377A>C (p.Gln126Pro)
c.419A>C (p.Gln140Pro)
c.644A>C (p.Gln215Pro)
20g.17499024_17499031delinsTGTTCCAGCA2353084900BFSP1c.745_752delinsCTGGAACA (p.Leu249=)
c.328_335delinsCTGGAACA (p.Leu110=)
c.370_377delinsCTGGAACA (p.Leu124=)
c.412_419delinsCTGGAACA (p.Leu138=)
c.637_644delinsCTGGAACA (p.Leu213=)
20g.17499025delCA2651989255BFSP1c.751del (p.Gln251LysfsTer?)
c.334del (p.Gln112LysfsTer?)
c.376del (p.Gln126LysfsTer?)
c.418del (p.Gln140LysfsTer?)
c.643del (p.Gln215LysfsTer?)
 gnomAD v4
20g.17499025G>ACA408317652BFSP1c.751C>T (p.Gln251Ter)
c.334C>T (p.Gln112Ter)
c.376C>T (p.Gln126Ter)
c.418C>T (p.Gln140Ter)
c.643C>T (p.Gln215Ter)
20g.17499025G>CCA408317654BFSP1c.751C>G (p.Gln251Glu)
c.334C>G (p.Gln112Glu)
c.376C>G (p.Gln126Glu)
c.418C>G (p.Gln140Glu)
c.643C>G (p.Gln215Glu)
 gnomAD v4
20g.17499025G>TCA408317655BFSP1c.751C>A (p.Gln251Lys)
c.334C>A (p.Gln112Lys)
c.376C>A (p.Gln126Lys)
c.418C>A (p.Gln140Lys)
c.643C>A (p.Gln215Lys)
 gnomAD v4
20g.17499025_17499031delCA2353084901BFSP1c.745_751del (p.Leu249LysfsTer?)
c.328_334del (p.Leu110LysfsTer?)
c.370_376del (p.Leu124LysfsTer?)
c.412_418del (p.Leu138LysfsTer?)
c.637_643del (p.Leu213LysfsTer?)
 dbSNP
20g.17499026T>ACA408317657BFSP1c.750A>T (p.Glu250Asp)
c.333A>T (p.Glu111Asp)
c.375A>T (p.Glu125Asp)
c.417A>T (p.Glu139Asp)
c.642A>T (p.Glu214Asp)
20g.17499026T>CCA509810308BFSP1c.750A>G (p.Glu250=)
c.333A>G (p.Glu111=)
c.375A>G (p.Glu125=)
c.417A>G (p.Glu139=)
c.642A>G (p.Glu214=)
 dbSNP gnomAD v4
20g.17499026T>GCA408317659BFSP1c.750A>C (p.Glu250Asp)
c.333A>C (p.Glu111Asp)
c.375A>C (p.Glu125Asp)
c.417A>C (p.Glu139Asp)
c.642A>C (p.Glu214Asp)
20g.17499026T=CA2353084902BFSP1c.750A= (p.Glu250=)
c.333A= (p.Glu111=)
c.375A= (p.Glu125=)
c.417A= (p.Glu139=)
c.642A= (p.Glu214=)
20g.17499027T>ACA408317660BFSP1c.749A>T (p.Glu250Val)
c.332A>T (p.Glu111Val)
c.374A>T (p.Glu125Val)
c.416A>T (p.Glu139Val)
c.641A>T (p.Glu214Val)
20g.17499027T>CCA408317661BFSP1c.749A>G (p.Glu250Gly)
c.332A>G (p.Glu111Gly)
c.374A>G (p.Glu125Gly)
c.416A>G (p.Glu139Gly)
c.641A>G (p.Glu214Gly)
20g.17499027T>GCA408317662BFSP1c.749A>C (p.Glu250Ala)
c.332A>C (p.Glu111Ala)
c.374A>C (p.Glu125Ala)
c.416A>C (p.Glu139Ala)
c.641A>C (p.Glu214Ala)
20g.17499027_17499032delCA2651989256BFSP1c.744_749del (p.Leu249_Glu250del)
c.327_332del (p.Leu110_Glu111del)
c.369_374del (p.Leu124_Glu125del)
c.411_416del (p.Leu138_Glu139del)
c.636_641del (p.Leu213_Glu214del)
 gnomAD v4
20g.17499028C>ACA408317665BFSP1c.748G>T (p.Glu250Ter)
c.331G>T (p.Glu111Ter)
c.373G>T (p.Glu125Ter)
c.415G>T (p.Glu139Ter)
c.640G>T (p.Glu214Ter)
20g.17499028C>GCA408317664BFSP1c.748G>C (p.Glu250Gln)
c.331G>C (p.Glu111Gln)
c.373G>C (p.Glu125Gln)
c.415G>C (p.Glu139Gln)
c.640G>C (p.Glu214Gln)
 gnomAD v4
20g.17499028C>TCA408317663BFSP1c.748G>A (p.Glu250Lys)
c.331G>A (p.Glu111Lys)
c.373G>A (p.Glu125Lys)
c.415G>A (p.Glu139Lys)
c.640G>A (p.Glu214Lys)
 gnomAD v4
20g.17499029C>ACA509810309BFSP1c.747G>T (p.Leu249=)
c.330G>T (p.Leu110=)
c.372G>T (p.Leu124=)
c.414G>T (p.Leu138=)
c.639G>T (p.Leu213=)
20g.17499029C=CA2353084903BFSP1c.747G= (p.Leu249=)
c.330G= (p.Leu110=)
c.372G= (p.Leu124=)
c.414G= (p.Leu138=)
c.639G= (p.Leu213=)
20g.17499029C>GCA509810310BFSP1c.747G>C (p.Leu249=)
c.330G>C (p.Leu110=)
c.372G>C (p.Leu124=)
c.414G>C (p.Leu138=)
c.639G>C (p.Leu213=)
20g.17499029C>TCA509810311BFSP1c.747G>A (p.Leu249=)
c.330G>A (p.Leu110=)
c.372G>A (p.Leu124=)
c.414G>A (p.Leu138=)
c.639G>A (p.Leu213=)
 dbSNP gnomAD v3 gnomAD v4
20g.17499030A>CCA408317666BFSP1c.746T>G (p.Leu249Arg)
c.329T>G (p.Leu110Arg)
c.371T>G (p.Leu124Arg)
c.413T>G (p.Leu138Arg)
c.638T>G (p.Leu213Arg)
20g.17499030A>GCA408317667BFSP1c.746T>C (p.Leu249Pro)
c.329T>C (p.Leu110Pro)
c.371T>C (p.Leu124Pro)
c.413T>C (p.Leu138Pro)
c.638T>C (p.Leu213Pro)
20g.17499030A>TCA408317668BFSP1c.746T>A (p.Leu249Gln)
c.329T>A (p.Leu110Gln)
c.371T>A (p.Leu124Gln)
c.413T>A (p.Leu138Gln)
c.638T>A (p.Leu213Gln)
20g.17499031G>ACA509810312BFSP1c.745C>T (p.Leu249=)
c.328C>T (p.Leu110=)
c.370C>T (p.Leu124=)
c.412C>T (p.Leu138=)
c.637C>T (p.Leu213=)
20g.17499031G>CCA408317669BFSP1c.745C>G (p.Leu249Val)
c.328C>G (p.Leu110Val)
c.370C>G (p.Leu124Val)
c.412C>G (p.Leu138Val)
c.637C>G (p.Leu213Val)
 gnomAD v4
20g.17499031G>TCA408317670BFSP1c.745C>A (p.Leu249Met)
c.328C>A (p.Leu110Met)
c.370C>A (p.Leu124Met)
c.412C>A (p.Leu138Met)
c.637C>A (p.Leu213Met)
20g.17499032A=CA2353084904BFSP1c.744T= (p.Thr248=)
c.327T= (p.Thr109=)
c.369T= (p.Thr123=)
c.411T= (p.Thr137=)
c.636T= (p.Thr212=)
20g.17499032A>CCA509810313BFSP1c.744T>G (p.Thr248=)
c.327T>G (p.Thr109=)
c.369T>G (p.Thr123=)
c.411T>G (p.Thr137=)
c.636T>G (p.Thr212=)
20g.17499032A>GCA509810314BFSP1c.744T>C (p.Thr248=)
c.327T>C (p.Thr109=)
c.369T>C (p.Thr123=)
c.411T>C (p.Thr137=)
c.636T>C (p.Thr212=)
 dbSNP
20g.17499032A>TCA312242380BFSP1c.744T>A (p.Thr248=)
c.327T>A (p.Thr109=)
c.369T>A (p.Thr123=)
c.411T>A (p.Thr137=)
c.636T>A (p.Thr212=)
 dbSNP
20g.17499033G>ACA408317671BFSP1c.743C>T (p.Thr248Ile)
c.326C>T (p.Thr109Ile)
c.368C>T (p.Thr123Ile)
c.410C>T (p.Thr137Ile)
c.635C>T (p.Thr212Ile)
 gnomAD v4
20g.17499033G>CCA408317672BFSP1c.743C>G (p.Thr248Ser)
c.326C>G (p.Thr109Ser)
c.368C>G (p.Thr123Ser)
c.410C>G (p.Thr137Ser)
c.635C>G (p.Thr212Ser)
20g.17499033G>TCA408317673BFSP1c.743C>A (p.Thr248Asn)
c.326C>A (p.Thr109Asn)
c.368C>A (p.Thr123Asn)
c.410C>A (p.Thr137Asn)
c.635C>A (p.Thr212Asn)
20g.17499038_17499040delCA2577343541BFSP1c.741_743del (p.Thr248del)
c.324_326del (p.Thr109del)
c.366_368del (p.Thr123del)
c.408_410del (p.Thr137del)
c.633_635del (p.Thr212del)
20g.17499034T>ACA408317674BFSP1c.742A>T (p.Thr248Ser)
c.325A>T (p.Thr109Ser)
c.367A>T (p.Thr123Ser)
c.409A>T (p.Thr137Ser)
c.634A>T (p.Thr212Ser)
20g.17499034T>CCA408317675BFSP1c.742A>G (p.Thr248Ala)
c.325A>G (p.Thr109Ala)
c.367A>G (p.Thr123Ala)
c.409A>G (p.Thr137Ala)
c.634A>G (p.Thr212Ala)
20g.17499034T>GCA408317676BFSP1c.742A>C (p.Thr248Pro)
c.325A>C (p.Thr109Pro)
c.367A>C (p.Thr123Pro)
c.409A>C (p.Thr137Pro)
c.634A>C (p.Thr212Pro)
20g.17499035T>ACA509810315BFSP1c.741A>T (p.Thr247=)
c.324A>T (p.Thr108=)
c.366A>T (p.Thr122=)
c.408A>T (p.Thr136=)
c.633A>T (p.Thr211=)
20g.17499035T>CCA509810316BFSP1c.741A>G (p.Thr247=)
c.324A>G (p.Thr108=)
c.366A>G (p.Thr122=)
c.408A>G (p.Thr136=)
c.633A>G (p.Thr211=)
20g.17499035T>GCA509810317BFSP1c.741A>C (p.Thr247=)
c.324A>C (p.Thr108=)
c.366A>C (p.Thr122=)
c.408A>C (p.Thr136=)
c.633A>C (p.Thr211=)
20g.17499036G>ACA408317677BFSP1c.740C>T (p.Thr247Ile)
c.323C>T (p.Thr108Ile)
c.365C>T (p.Thr122Ile)
c.407C>T (p.Thr136Ile)
c.632C>T (p.Thr211Ile)
20g.17499036G>CCA408317678BFSP1c.740C>G (p.Thr247Arg)
c.323C>G (p.Thr108Arg)
c.365C>G (p.Thr122Arg)
c.407C>G (p.Thr136Arg)
c.632C>G (p.Thr211Arg)
20g.17499036G>TCA408317679BFSP1c.740C>A (p.Thr247Lys)
c.323C>A (p.Thr108Lys)
c.365C>A (p.Thr122Lys)
c.407C>A (p.Thr136Lys)
c.632C>A (p.Thr211Lys)
20g.17499037T>ACA408317681BFSP1c.739A>T (p.Thr247Ser)
c.322A>T (p.Thr108Ser)
c.364A>T (p.Thr122Ser)
c.406A>T (p.Thr136Ser)
c.631A>T (p.Thr211Ser)
20g.17499037T>CCA408317682BFSP1c.739A>G (p.Thr247Ala)
c.322A>G (p.Thr108Ala)
c.364A>G (p.Thr122Ala)
c.406A>G (p.Thr136Ala)
c.631A>G (p.Thr211Ala)
 gnomAD v4
20g.17499037T>GCA408317680BFSP1c.739A>C (p.Thr247Pro)
c.322A>C (p.Thr108Pro)
c.364A>C (p.Thr122Pro)
c.406A>C (p.Thr136Pro)
c.631A>C (p.Thr211Pro)
20g.17499038T>ACA509810318BFSP1c.738A>T (p.Thr246=)
c.321A>T (p.Thr107=)
c.363A>T (p.Thr121=)
c.405A>T (p.Thr135=)
c.630A>T (p.Thr210=)
20g.17499038T>CCA509810319BFSP1c.738A>G (p.Thr246=)
c.321A>G (p.Thr107=)
c.363A>G (p.Thr121=)
c.405A>G (p.Thr135=)
c.630A>G (p.Thr210=)
20g.17499038T>GCA509810320BFSP1c.738A>C (p.Thr246=)
c.321A>C (p.Thr107=)
c.363A>C (p.Thr121=)
c.405A>C (p.Thr135=)
c.630A>C (p.Thr210=)
20g.17499039G>ACA408317684BFSP1c.737C>T (p.Thr246Ile)
c.320C>T (p.Thr107Ile)
c.362C>T (p.Thr121Ile)
c.404C>T (p.Thr135Ile)
c.629C>T (p.Thr210Ile)
20g.17499039G>CCA408317683BFSP1c.737C>G (p.Thr246Arg)
c.320C>G (p.Thr107Arg)
c.362C>G (p.Thr121Arg)
c.404C>G (p.Thr135Arg)
c.629C>G (p.Thr210Arg)
20g.17499039G>TCA408317685BFSP1c.737C>A (p.Thr246Lys)
c.320C>A (p.Thr107Lys)
c.362C>A (p.Thr121Lys)
c.404C>A (p.Thr135Lys)
c.629C>A (p.Thr210Lys)
20g.17499040T>ACA408317686BFSP1c.736A>T (p.Thr246Ser)
c.319A>T (p.Thr107Ser)
c.361A>T (p.Thr121Ser)
c.403A>T (p.Thr135Ser)
c.628A>T (p.Thr210Ser)
20g.17499040T>CCA9772208BFSP1c.736A>G (p.Thr246Ala)
c.319A>G (p.Thr107Ala)
c.361A>G (p.Thr121Ala)
c.403A>G (p.Thr135Ala)
c.628A>G (p.Thr210Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.17499040T>GCA408317687BFSP1c.736A>C (p.Thr246Pro)
c.319A>C (p.Thr107Pro)
c.361A>C (p.Thr121Pro)
c.403A>C (p.Thr135Pro)
c.628A>C (p.Thr210Pro)
20g.17499040T=CA2353084905BFSP1c.736A= (p.Thr246=)
c.319A= (p.Thr107=)
c.361A= (p.Thr121=)
c.403A= (p.Thr135=)
c.628A= (p.Thr210=)
20g.17499041C>ACA408317688BFSP1c.736-1G>T (n.736-1G>T)
c.319-1G>T (n.319-1G>T)
c.361-1G>T (n.361-1G>T)
c.403-1G>T (n.403-1G>T)
c.628-1G>T (n.628-1G>T)
 COSMIC COSMIC
20g.17499041C>GCA408317689BFSP1c.736-1G>C (n.736-1G>C)
c.319-1G>C (n.319-1G>C)
c.361-1G>C (n.361-1G>C)
c.403-1G>C (n.403-1G>C)
c.628-1G>C (n.628-1G>C)
 gnomAD v4
20g.17499041C>TCA408317690BFSP1c.736-1G>A (n.736-1G>A)
c.319-1G>A (n.319-1G>A)
c.361-1G>A (n.361-1G>A)
c.403-1G>A (n.403-1G>A)
c.628-1G>A (n.628-1G>A)
20g.17499042T>ACA408317691BFSP1c.736-2A>T (n.736-2A>T)
c.319-2A>T (n.319-2A>T)
c.361-2A>T (n.361-2A>T)
c.403-2A>T (n.403-2A>T)
c.628-2A>T (n.628-2A>T)
20g.17499042T>CCA408317692BFSP1c.736-2A>G (n.736-2A>G)
c.319-2A>G (n.319-2A>G)
c.361-2A>G (n.361-2A>G)
c.403-2A>G (n.403-2A>G)
c.628-2A>G (n.628-2A>G)
20g.17499042T>GCA408317693BFSP1c.736-2A>C (n.736-2A>C)
c.319-2A>C (n.319-2A>C)
c.361-2A>C (n.361-2A>C)
c.403-2A>C (n.403-2A>C)
c.628-2A>C (n.628-2A>C)
20g.17499043G>ACA2651989257BFSP1c.736-3C>T (n.736-3C>T)
c.319-3C>T (n.319-3C>T)
c.361-3C>T (n.361-3C>T)
c.403-3C>T (n.403-3C>T)
c.628-3C>T (n.628-3C>T)
 gnomAD v4
20g.17499044T>CCA2651989258BFSP1c.736-4A>G (n.736-4A>G)
c.319-4A>G (n.319-4A>G)
c.361-4A>G (n.361-4A>G)
c.403-4A>G (n.403-4A>G)
c.628-4A>G (n.628-4A>G)
 gnomAD v4
20g.17499044T>GCA2353084907BFSP1c.736-4A>C (n.736-4A>C)
c.319-4A>C (n.319-4A>C)
c.361-4A>C (n.361-4A>C)
c.403-4A>C (n.403-4A>C)
c.628-4A>C (n.628-4A>C)
 dbSNP
20g.17499044T=CA2353084906BFSP1c.736-4A= (n.736-4A=)
c.319-4A= (n.319-4A=)
c.361-4A= (n.361-4A=)
c.403-4A= (n.403-4A=)
c.628-4A= (n.628-4A=)
20g.17499047G>ACA2577343542BFSP1c.736-7C>T (n.736-7C>T)
c.319-7C>T (n.319-7C>T)
c.361-7C>T (n.361-7C>T)
c.403-7C>T (n.403-7C>T)
c.628-7C>T (n.628-7C>T)
20g.17499048delCA2577343543BFSP1c.736-8del (n.736-8del)
c.319-8del (n.319-8del)
c.361-8del (n.361-8del)
c.403-8del (n.403-8del)
c.628-8del (n.628-8del)
20g.17499049A>GCA2651989259BFSP1c.736-9T>C (n.736-9T>C)
c.319-9T>C (n.319-9T>C)
c.361-9T>C (n.361-9T>C)
c.403-9T>C (n.403-9T>C)
c.628-9T>C (n.628-9T>C)
 gnomAD v4
20g.17499050A>CCA2651989260BFSP1c.736-10T>G (n.736-10T>G)
c.319-10T>G (n.319-10T>G)
c.361-10T>G (n.361-10T>G)
c.403-10T>G (n.403-10T>G)
c.628-10T>G (n.628-10T>G)
 gnomAD v4
20g.17499051G>CCA741726962BFSP1c.736-11C>G (n.736-11C>G)
c.319-11C>G (n.319-11C>G)
c.361-11C>G (n.361-11C>G)
c.403-11C>G (n.403-11C>G)
c.628-11C>G (n.628-11C>G)
 dbSNP gnomAD v4
20g.17499051G=CA2353084908BFSP1c.736-11C= (n.736-11C=)
c.319-11C= (n.319-11C=)
c.361-11C= (n.361-11C=)
c.403-11C= (n.403-11C=)
c.628-11C= (n.628-11C=)
20g.17499052G>ACA2651989261BFSP1c.736-12C>T (n.736-12C>T)
c.319-12C>T (n.319-12C>T)
c.361-12C>T (n.361-12C>T)
c.403-12C>T (n.403-12C>T)
c.628-12C>T (n.628-12C>T)
 gnomAD v4
20g.17499054C=CA2353084909BFSP1c.736-14G= (n.736-14G=)
c.319-14G= (n.319-14G=)
c.361-14G= (n.361-14G=)
c.403-14G= (n.403-14G=)
c.628-14G= (n.628-14G=)
20g.17499054C>TCA9772209BFSP1c.736-14G>A (n.736-14G>A)
c.319-14G>A (n.319-14G>A)
c.361-14G>A (n.361-14G>A)
c.403-14G>A (n.403-14G>A)
c.628-14G>A (n.628-14G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.17499056C=CA2353084910BFSP1c.736-16G= (n.736-16G=)
c.319-16G= (n.319-16G=)
c.361-16G= (n.361-16G=)
c.403-16G= (n.403-16G=)
c.628-16G= (n.628-16G=)
20g.17499056C>TCA9772210BFSP1c.736-16G>A (n.736-16G>A)
c.319-16G>A (n.319-16G>A)
c.361-16G>A (n.361-16G>A)
c.403-16G>A (n.403-16G>A)
c.628-16G>A (n.628-16G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.17499057G>ACA9772211BFSP1c.736-17C>T (n.736-17C>T)
c.319-17C>T (n.319-17C>T)
c.361-17C>T (n.361-17C>T)
c.403-17C>T (n.403-17C>T)
c.628-17C>T (n.628-17C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.17499057G=CA2353084911BFSP1c.736-17C= (n.736-17C=)
c.319-17C= (n.319-17C=)
c.361-17C= (n.361-17C=)
c.403-17C= (n.403-17C=)
c.628-17C= (n.628-17C=)
20g.17499058C=CA2353084912BFSP1c.736-18G= (n.736-18G=)
c.319-18G= (n.319-18G=)
c.361-18G= (n.361-18G=)
c.403-18G= (n.403-18G=)
c.628-18G= (n.628-18G=)
20g.17499058C>TCA634417160BFSP1c.736-18G>A (n.736-18G>A)
c.319-18G>A (n.319-18G>A)
c.361-18G>A (n.361-18G>A)
c.403-18G>A (n.403-18G>A)
c.628-18G>A (n.628-18G>A)
 dbSNP gnomAD v2
20g.17499059T>CCA2577343544BFSP1c.736-19A>G (n.736-19A>G)
c.319-19A>G (n.319-19A>G)
c.361-19A>G (n.361-19A>G)
c.403-19A>G (n.403-19A>G)
c.628-19A>G (n.628-19A>G)
20g.17499059_17499060delinsTGCA2353084913BFSP1c.736-20_736-19delinsCA (n.736-20_736-19delinsCA)
c.319-20_319-19delinsCA (n.319-20_319-19delinsCA)
c.361-20_361-19delinsCA (n.361-20_361-19delinsCA)
c.403-20_403-19delinsCA (n.403-20_403-19delinsCA)
c.628-20_628-19delinsCA (n.628-20_628-19delinsCA)
20g.17499059_17499061delCA2815428217BFSP1c.736-21_736-19del (n.736-21_736-19del)
c.319-21_319-19del (n.319-21_319-19del)
c.361-21_361-19del (n.361-21_361-19del)
c.403-21_403-19del (n.403-21_403-19del)
c.628-21_628-19del (n.628-21_628-19del)
20g.17499060delCA9772212BFSP1c.736-20del (n.736-20del)
c.319-20del (n.319-20del)
c.361-20del (n.361-20del)
c.403-20del (n.403-20del)
c.628-20del (n.628-20del)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.17499060G>ACA2651989263BFSP1c.736-20C>T (n.736-20C>T)
c.319-20C>T (n.319-20C>T)
c.361-20C>T (n.361-20C>T)
c.403-20C>T (n.403-20C>T)
c.628-20C>T (n.628-20C>T)
 gnomAD v4
20g.17499060G>TCA2651989262BFSP1c.736-20C>A (n.736-20C>A)
c.319-20C>A (n.319-20C>A)
c.361-20C>A (n.361-20C>A)
c.403-20C>A (n.403-20C>A)
c.628-20C>A (n.628-20C>A)
 gnomAD v4
20g.17499061T>CCA2651989264BFSP1c.736-21A>G (n.736-21A>G)
c.319-21A>G (n.319-21A>G)
c.361-21A>G (n.361-21A>G)
c.403-21A>G (n.403-21A>G)
c.628-21A>G (n.628-21A>G)
 gnomAD v4
20g.17499064G>ACA2651989265BFSP1c.736-24C>T (n.736-24C>T)
c.319-24C>T (n.319-24C>T)
c.361-24C>T (n.361-24C>T)
c.403-24C>T (n.403-24C>T)
c.628-24C>T (n.628-24C>T)
 gnomAD v4
20g.17499064_17499065delinsGACA2353084914BFSP1c.736-25_736-24delinsTC (n.736-25_736-24delinsTC)
c.319-25_319-24delinsTC (n.319-25_319-24delinsTC)
c.361-25_361-24delinsTC (n.361-25_361-24delinsTC)
c.403-25_403-24delinsTC (n.403-25_403-24delinsTC)
c.628-25_628-24delinsTC (n.628-25_628-24delinsTC)

Number of alleles fetched