Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.17497089_17500424del | CA645293918 | BFSP1 | c.736-1384_957-66del c.319-1384_540-66del c.361-1384_582-66del c.403-1384_624-66del c.628-1384_849-66del | ClinVar |
20 | g.17498972G>A | CA9772201 | BFSP1 | c.804C>T (p.Asn268=) c.387C>T (p.Asn129=) c.429C>T (p.Asn143=) c.471C>T (p.Asn157=) c.696C>T (p.Asn232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17498972G>C | CA408317466 | BFSP1 | c.804C>G (p.Asn268Lys) c.387C>G (p.Asn129Lys) c.429C>G (p.Asn143Lys) c.471C>G (p.Asn157Lys) c.696C>G (p.Asn232Lys) | |
20 | g.17498972G= | CA2353084879 | BFSP1 | c.804C= (p.Asn268=) c.387C= (p.Asn129=) c.429C= (p.Asn143=) c.471C= (p.Asn157=) c.696C= (p.Asn232=) | |
20 | g.17498972G>T | CA408317467 | BFSP1 | c.804C>A (p.Asn268Lys) c.387C>A (p.Asn129Lys) c.429C>A (p.Asn143Lys) c.471C>A (p.Asn157Lys) c.696C>A (p.Asn232Lys) | |
20 | g.17498973T>A | CA408317470 | BFSP1 | c.803A>T (p.Asn268Ile) c.386A>T (p.Asn129Ile) c.428A>T (p.Asn143Ile) c.470A>T (p.Asn157Ile) c.695A>T (p.Asn232Ile) | |
20 | g.17498973T>C | CA408317469 | BFSP1 | c.803A>G (p.Asn268Ser) c.386A>G (p.Asn129Ser) c.428A>G (p.Asn143Ser) c.470A>G (p.Asn157Ser) c.695A>G (p.Asn232Ser) | |
20 | g.17498973T>G | CA408317468 | BFSP1 | c.803A>C (p.Asn268Thr) c.386A>C (p.Asn129Thr) c.428A>C (p.Asn143Thr) c.470A>C (p.Asn157Thr) c.695A>C (p.Asn232Thr) | |
20 | g.17498974T>A | CA408317471 | BFSP1 | c.802A>T (p.Asn268Tyr) c.385A>T (p.Asn129Tyr) c.427A>T (p.Asn143Tyr) c.469A>T (p.Asn157Tyr) c.694A>T (p.Asn232Tyr) | |
20 | g.17498974T>C | CA408317472 | BFSP1 | c.802A>G (p.Asn268Asp) c.385A>G (p.Asn129Asp) c.427A>G (p.Asn143Asp) c.469A>G (p.Asn157Asp) c.694A>G (p.Asn232Asp) | |
20 | g.17498974T>G | CA408317473 | BFSP1 | c.802A>C (p.Asn268His) c.385A>C (p.Asn129His) c.427A>C (p.Asn143His) c.469A>C (p.Asn157His) c.694A>C (p.Asn232His) | |
20 | g.17498975A= | CA2353084880 | BFSP1 | c.801T= (p.Tyr267=) c.384T= (p.Tyr128=) c.426T= (p.Tyr142=) c.468T= (p.Tyr156=) c.693T= (p.Tyr231=) | |
20 | g.17498975A>C | CA408317474 | BFSP1 | c.801T>G (p.Tyr267Ter) c.384T>G (p.Tyr128Ter) c.426T>G (p.Tyr142Ter) c.468T>G (p.Tyr156Ter) c.693T>G (p.Tyr231Ter) | |
20 | g.17498975A>G | CA509810287 | BFSP1 | c.801T>C (p.Tyr267=) c.384T>C (p.Tyr128=) c.426T>C (p.Tyr142=) c.468T>C (p.Tyr156=) c.693T>C (p.Tyr231=) | |
20 | g.17498975A>T | CA9772202 | BFSP1 | c.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 |
20 | g.17498976T>A | CA408317477 | BFSP1 | c.800A>T (p.Tyr267Phe) c.383A>T (p.Tyr128Phe) c.425A>T (p.Tyr142Phe) c.467A>T (p.Tyr156Phe) c.692A>T (p.Tyr231Phe) | |
20 | g.17498976T>C | CA408317476 | BFSP1 | c.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 |
20 | g.17498976T>G | CA408317475 | BFSP1 | c.800A>C (p.Tyr267Ser) c.383A>C (p.Tyr128Ser) c.425A>C (p.Tyr142Ser) c.467A>C (p.Tyr156Ser) c.692A>C (p.Tyr231Ser) | |
20 | g.17498976T= | CA2353084881 | BFSP1 | c.800A= (p.Tyr267=) c.383A= (p.Tyr128=) c.425A= (p.Tyr142=) c.467A= (p.Tyr156=) c.692A= (p.Tyr231=) | |
20 | g.17498977A= | CA2353084882 | BFSP1 | c.799T= (p.Tyr267=) c.382T= (p.Tyr128=) c.424T= (p.Tyr142=) c.466T= (p.Tyr156=) c.691T= (p.Tyr231=) | |
20 | g.17498977A>C | CA408317478 | BFSP1 | c.799T>G (p.Tyr267Asp) c.382T>G (p.Tyr128Asp) c.424T>G (p.Tyr142Asp) c.466T>G (p.Tyr156Asp) c.691T>G (p.Tyr231Asp) | |
20 | g.17498977A>G | CA408317479 | BFSP1 | c.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 |
20 | g.17498977A>T | CA408317480 | BFSP1 | c.799T>A (p.Tyr267Asn) c.382T>A (p.Tyr128Asn) c.424T>A (p.Tyr142Asn) c.466T>A (p.Tyr156Asn) c.691T>A (p.Tyr231Asn) | |
20 | g.17498978A>C | CA509810288 | BFSP1 | c.798T>G (p.Leu266=) c.381T>G (p.Leu127=) c.423T>G (p.Leu141=) c.465T>G (p.Leu155=) c.690T>G (p.Leu230=) | |
20 | g.17498978A>G | CA509810289 | BFSP1 | c.798T>C (p.Leu266=) c.381T>C (p.Leu127=) c.423T>C (p.Leu141=) c.465T>C (p.Leu155=) c.690T>C (p.Leu230=) | |
20 | g.17498978A>T | CA509810290 | BFSP1 | c.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 |
20 | g.17498979A>C | CA408317481 | BFSP1 | c.797T>G (p.Leu266Arg) c.380T>G (p.Leu127Arg) c.422T>G (p.Leu141Arg) c.464T>G (p.Leu155Arg) c.689T>G (p.Leu230Arg) | |
20 | g.17498979A>G | CA408317482 | BFSP1 | c.797T>C (p.Leu266Pro) c.380T>C (p.Leu127Pro) c.422T>C (p.Leu141Pro) c.464T>C (p.Leu155Pro) c.689T>C (p.Leu230Pro) | |
20 | g.17498979A>T | CA408317483 | BFSP1 | c.797T>A (p.Leu266His) c.380T>A (p.Leu127His) c.422T>A (p.Leu141His) c.464T>A (p.Leu155His) c.689T>A (p.Leu230His) | |
20 | g.17498980G>A | CA408317484 | BFSP1 | c.796C>T (p.Leu266Phe) c.379C>T (p.Leu127Phe) c.421C>T (p.Leu141Phe) c.463C>T (p.Leu155Phe) c.688C>T (p.Leu230Phe) | |
20 | g.17498980G>C | CA408317486 | BFSP1 | c.796C>G (p.Leu266Val) c.379C>G (p.Leu127Val) c.421C>G (p.Leu141Val) c.463C>G (p.Leu155Val) c.688C>G (p.Leu230Val) | |
20 | g.17498980G>T | CA408317485 | BFSP1 | c.796C>A (p.Leu266Ile) c.379C>A (p.Leu127Ile) c.421C>A (p.Leu141Ile) c.463C>A (p.Leu155Ile) c.688C>A (p.Leu230Ile) | |
20 | g.17498981C>A | CA408317487 | BFSP1 | c.795G>T (p.Gln265His) c.378G>T (p.Gln126His) c.420G>T (p.Gln140His) c.462G>T (p.Gln154His) c.687G>T (p.Gln229His) | |
20 | g.17498981C>G | CA408317488 | BFSP1 | c.795G>C (p.Gln265His) c.378G>C (p.Gln126His) c.420G>C (p.Gln140His) c.462G>C (p.Gln154His) c.687G>C (p.Gln229His) | |
20 | g.17498981C>T | CA509810291 | BFSP1 | c.795G>A (p.Gln265=) c.378G>A (p.Gln126=) c.420G>A (p.Gln140=) c.462G>A (p.Gln154=) c.687G>A (p.Gln229=) | |
20 | g.17498982T>A | CA408317489 | BFSP1 | c.794A>T (p.Gln265Leu) c.377A>T (p.Gln126Leu) c.419A>T (p.Gln140Leu) c.461A>T (p.Gln154Leu) c.686A>T (p.Gln229Leu) | |
20 | g.17498982T>C | CA408317490 | BFSP1 | c.794A>G (p.Gln265Arg) c.377A>G (p.Gln126Arg) c.419A>G (p.Gln140Arg) c.461A>G (p.Gln154Arg) c.686A>G (p.Gln229Arg) | |
20 | g.17498982T>G | CA408317491 | BFSP1 | c.794A>C (p.Gln265Pro) c.377A>C (p.Gln126Pro) c.419A>C (p.Gln140Pro) c.461A>C (p.Gln154Pro) c.686A>C (p.Gln229Pro) | |
20 | g.17498983G>A | CA9772203 | BFSP1 | c.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 |
20 | g.17498983G>C | CA408317492 | BFSP1 | c.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 |
20 | g.17498983G= | CA2353084883 | BFSP1 | c.793C= (p.Gln265=) c.376C= (p.Gln126=) c.418C= (p.Gln140=) c.460C= (p.Gln154=) c.685C= (p.Gln229=) | |
20 | g.17498983G>T | CA408317493 | BFSP1 | c.793C>A (p.Gln265Lys) c.376C>A (p.Gln126Lys) c.418C>A (p.Gln140Lys) c.460C>A (p.Gln154Lys) c.685C>A (p.Gln229Lys) | |
20 | g.17498984A>C | CA408317494 | BFSP1 | c.792T>G (p.Ile264Met) c.375T>G (p.Ile125Met) c.417T>G (p.Ile139Met) c.459T>G (p.Ile153Met) c.684T>G (p.Ile228Met) | |
20 | g.17498984A>G | CA509810292 | BFSP1 | c.792T>C (p.Ile264=) c.375T>C (p.Ile125=) c.417T>C (p.Ile139=) c.459T>C (p.Ile153=) c.684T>C (p.Ile228=) | |
20 | g.17498984A>T | CA509810293 | BFSP1 | c.792T>A (p.Ile264=) c.375T>A (p.Ile125=) c.417T>A (p.Ile139=) c.459T>A (p.Ile153=) c.684T>A (p.Ile228=) | |
20 | g.17498985A= | CA2353084884 | BFSP1 | c.791T= (p.Ile264=) c.374T= (p.Ile125=) c.416T= (p.Ile139=) c.458T= (p.Ile153=) c.683T= (p.Ile228=) | |
20 | g.17498985A>C | CA408317495 | BFSP1 | c.791T>G (p.Ile264Ser) c.374T>G (p.Ile125Ser) c.416T>G (p.Ile139Ser) c.458T>G (p.Ile153Ser) c.683T>G (p.Ile228Ser) | |
20 | g.17498985A>G | CA408317496 | BFSP1 | c.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 |
20 | g.17498985A>T | CA408317497 | BFSP1 | c.791T>A (p.Ile264Asn) c.374T>A (p.Ile125Asn) c.416T>A (p.Ile139Asn) c.458T>A (p.Ile153Asn) c.683T>A (p.Ile228Asn) | |
20 | g.17498986T>A | CA408317499 | BFSP1 | c.790A>T (p.Ile264Phe) c.373A>T (p.Ile125Phe) c.415A>T (p.Ile139Phe) c.457A>T (p.Ile153Phe) c.682A>T (p.Ile228Phe) | |
20 | g.17498986T>C | CA408317500 | BFSP1 | c.790A>G (p.Ile264Val) c.373A>G (p.Ile125Val) c.415A>G (p.Ile139Val) c.457A>G (p.Ile153Val) c.682A>G (p.Ile228Val) | |
20 | g.17498986T>G | CA408317498 | BFSP1 | c.790A>C (p.Ile264Leu) c.373A>C (p.Ile125Leu) c.415A>C (p.Ile139Leu) c.457A>C (p.Ile153Leu) c.682A>C (p.Ile228Leu) | |
20 | g.17498987C>A | CA408317502 | BFSP1 | c.789G>T (p.Glu263Asp) c.372G>T (p.Glu124Asp) c.414G>T (p.Glu138Asp) c.456G>T (p.Glu152Asp) c.681G>T (p.Glu227Asp) | |
20 | g.17498987C= | CA2353084885 | BFSP1 | c.789G= (p.Glu263=) c.372G= (p.Glu124=) c.414G= (p.Glu138=) c.456G= (p.Glu152=) c.681G= (p.Glu227=) | |
20 | g.17498987C>G | CA408317501 | BFSP1 | c.789G>C (p.Glu263Asp) c.372G>C (p.Glu124Asp) c.414G>C (p.Glu138Asp) c.456G>C (p.Glu152Asp) c.681G>C (p.Glu227Asp) | |
20 | g.17498987C>T | CA312242341 | BFSP1 | c.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 |
20 | g.17498988T>A | CA408317503 | BFSP1 | c.788A>T (p.Glu263Val) c.371A>T (p.Glu124Val) c.413A>T (p.Glu138Val) c.455A>T (p.Glu152Val) c.680A>T (p.Glu227Val) | |
20 | g.17498988T>C | CA408317505 | BFSP1 | c.788A>G (p.Glu263Gly) c.371A>G (p.Glu124Gly) c.413A>G (p.Glu138Gly) c.455A>G (p.Glu152Gly) c.680A>G (p.Glu227Gly) | |
20 | g.17498988T>G | CA408317504 | BFSP1 | c.788A>C (p.Glu263Ala) c.371A>C (p.Glu124Ala) c.413A>C (p.Glu138Ala) c.455A>C (p.Glu152Ala) c.680A>C (p.Glu227Ala) | |
20 | g.17498989C>A | CA408317506 | BFSP1 | c.787G>T (p.Glu263Ter) c.370G>T (p.Glu124Ter) c.412G>T (p.Glu138Ter) c.454G>T (p.Glu152Ter) c.679G>T (p.Glu227Ter) | |
20 | g.17498989C>G | CA408317508 | BFSP1 | c.787G>C (p.Glu263Gln) c.370G>C (p.Glu124Gln) c.412G>C (p.Glu138Gln) c.454G>C (p.Glu152Gln) c.679G>C (p.Glu227Gln) | |
20 | g.17498989C>T | CA408317507 | BFSP1 | c.787G>A (p.Glu263Lys) c.370G>A (p.Glu124Lys) c.412G>A (p.Glu138Lys) c.454G>A (p.Glu152Lys) c.679G>A (p.Glu227Lys) | |
20 | g.17498990A= | CA2353084886 | BFSP1 | c.786T= (p.Asp262=) c.369T= (p.Asp123=) c.411T= (p.Asp137=) c.453T= (p.Asp151=) c.678T= (p.Asp226=) | |
20 | g.17498990A>C | CA408317509 | BFSP1 | c.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 |
20 | g.17498990A>G | CA312242343 | BFSP1 | c.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 |
20 | g.17498990A>T | CA408317510 | BFSP1 | c.786T>A (p.Asp262Glu) c.369T>A (p.Asp123Glu) c.411T>A (p.Asp137Glu) c.453T>A (p.Asp151Glu) c.678T>A (p.Asp226Glu) | |
20 | g.17498991T>A | CA408317511 | BFSP1 | c.785A>T (p.Asp262Val) c.368A>T (p.Asp123Val) c.410A>T (p.Asp137Val) c.452A>T (p.Asp151Val) c.677A>T (p.Asp226Val) | |
20 | g.17498991T>C | CA408317512 | BFSP1 | c.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 |
20 | g.17498991T>G | CA408317513 | BFSP1 | c.785A>C (p.Asp262Ala) c.368A>C (p.Asp123Ala) c.410A>C (p.Asp137Ala) c.452A>C (p.Asp151Ala) c.677A>C (p.Asp226Ala) | |
20 | g.17498992C>A | CA408317514 | BFSP1 | c.784G>T (p.Asp262Tyr) c.367G>T (p.Asp123Tyr) c.409G>T (p.Asp137Tyr) c.451G>T (p.Asp151Tyr) c.676G>T (p.Asp226Tyr) | |
20 | g.17498992C= | CA2353084887 | BFSP1 | c.784G= (p.Asp262=) c.367G= (p.Asp123=) c.409G= (p.Asp137=) c.451G= (p.Asp151=) c.676G= (p.Asp226=) | |
20 | g.17498992C>G | CA408317515 | BFSP1 | c.784G>C (p.Asp262His) c.367G>C (p.Asp123His) c.409G>C (p.Asp137His) c.451G>C (p.Asp151His) c.676G>C (p.Asp226His) | |
20 | g.17498992C>T | CA9772204 | BFSP1 | c.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 |
20 | g.17498993G>A | CA9772205 | BFSP1 | c.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 |
20 | g.17498993G>C | CA408317517 | BFSP1 | c.783C>G (p.Asp261Glu) c.366C>G (p.Asp122Glu) c.408C>G (p.Asp136Glu) c.450C>G (p.Asp150Glu) c.675C>G (p.Asp225Glu) | |
20 | g.17498993G= | CA2353084888 | BFSP1 | c.783C= (p.Asp261=) c.366C= (p.Asp122=) c.408C= (p.Asp136=) c.450C= (p.Asp150=) c.675C= (p.Asp225=) | |
20 | g.17498993G>T | CA408317516 | BFSP1 | c.783C>A (p.Asp261Glu) c.366C>A (p.Asp122Glu) c.408C>A (p.Asp136Glu) c.450C>A (p.Asp150Glu) c.675C>A (p.Asp225Glu) | |
20 | g.17498994T>A | CA408317518 | BFSP1 | c.782A>T (p.Asp261Val) c.365A>T (p.Asp122Val) c.407A>T (p.Asp136Val) c.449A>T (p.Asp150Val) c.674A>T (p.Asp225Val) | |
20 | g.17498994T>C | CA408317519 | BFSP1 | c.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 |
20 | g.17498994T>G | CA408317520 | BFSP1 | c.782A>C (p.Asp261Ala) c.365A>C (p.Asp122Ala) c.407A>C (p.Asp136Ala) c.449A>C (p.Asp150Ala) c.674A>C (p.Asp225Ala) | |
20 | g.17498994T= | CA2353084889 | BFSP1 | c.782A= (p.Asp261=) c.365A= (p.Asp122=) c.407A= (p.Asp136=) c.449A= (p.Asp150=) c.674A= (p.Asp225=) | |
20 | g.17498995C>A | CA408317521 | BFSP1 | c.781G>T (p.Asp261Tyr) c.364G>T (p.Asp122Tyr) c.406G>T (p.Asp136Tyr) c.448G>T (p.Asp150Tyr) c.673G>T (p.Asp225Tyr) | |
20 | g.17498995C>G | CA408317522 | BFSP1 | c.781G>C (p.Asp261His) c.364G>C (p.Asp122His) c.406G>C (p.Asp136His) c.448G>C (p.Asp150His) c.673G>C (p.Asp225His) | |
20 | g.17498995C>T | CA408317523 | BFSP1 | c.781G>A (p.Asp261Asn) c.364G>A (p.Asp122Asn) c.406G>A (p.Asp136Asn) c.448G>A (p.Asp150Asn) c.673G>A (p.Asp225Asn) | |
20 | g.17498996A= | CA2353084890 | BFSP1 | c.780T= (p.Tyr260=) c.363T= (p.Tyr121=) c.405T= (p.Tyr135=) c.447T= (p.Tyr149=) c.672T= (p.Tyr224=) | |
20 | g.17498996A>C | CA9772206 | BFSP1 | c.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 |
20 | g.17498996A>G | CA509810294 | BFSP1 | c.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 |
20 | g.17498996A>T | CA408317525 | BFSP1 | c.780T>A (p.Tyr260Ter) c.363T>A (p.Tyr121Ter) c.405T>A (p.Tyr135Ter) c.447T>A (p.Tyr149Ter) c.672T>A (p.Tyr224Ter) | |
20 | g.17498997T>A | CA408317526 | BFSP1 | c.779A>T (p.Tyr260Phe) c.362A>T (p.Tyr121Phe) c.404A>T (p.Tyr135Phe) c.446A>T (p.Tyr149Phe) c.671A>T (p.Tyr224Phe) | |
20 | g.17498997T>C | CA408317528 | BFSP1 | c.779A>G (p.Tyr260Cys) c.362A>G (p.Tyr121Cys) c.404A>G (p.Tyr135Cys) c.446A>G (p.Tyr149Cys) c.671A>G (p.Tyr224Cys) | |
20 | g.17498997T>G | CA408317530 | BFSP1 | c.779A>C (p.Tyr260Ser) c.362A>C (p.Tyr121Ser) c.404A>C (p.Tyr135Ser) c.446A>C (p.Tyr149Ser) c.671A>C (p.Tyr224Ser) | |
20 | g.17498998A>C | CA408317534 | BFSP1 | c.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 |
20 | g.17498998A>G | CA408317536 | BFSP1 | c.778T>C (p.Tyr260His) c.361T>C (p.Tyr121His) c.403T>C (p.Tyr135His) c.445T>C (p.Tyr149His) c.670T>C (p.Tyr224His) | |
20 | g.17498998A>T | CA408317532 | BFSP1 | c.778T>A (p.Tyr260Asn) c.361T>A (p.Tyr121Asn) c.403T>A (p.Tyr135Asn) c.445T>A (p.Tyr149Asn) c.670T>A (p.Tyr224Asn) | |
20 | g.17498998_17499000delinsAAC | CA2353084891 | BFSP1 | c.776_778delinsGTT (p.Cys259=) c.359_361delinsGTT (p.Cys120=) c.401_403delinsGTT (p.Cys134=) c.443_445delinsGTT (p.Cys148=) c.668_670delinsGTT (p.Cys223=) | |
20 | g.17498999A>C | CA408317538 | BFSP1 | c.777T>G (p.Cys259Trp) c.360T>G (p.Cys120Trp) c.402T>G (p.Cys134Trp) c.444T>G (p.Cys148Trp) c.669T>G (p.Cys223Trp) | |
20 | g.17498999A>G | CA509810295 | BFSP1 | c.777T>C (p.Cys259=) c.360T>C (p.Cys120=) c.402T>C (p.Cys134=) c.444T>C (p.Cys148=) c.669T>C (p.Cys223=) | |
20 | g.17498999A>T | CA408317540 | BFSP1 | c.777T>A (p.Cys259Ter) c.360T>A (p.Cys120Ter) c.402T>A (p.Cys134Ter) c.444T>A (p.Cys148Ter) c.669T>A (p.Cys223Ter) | |
20 | g.17499001_17499002del | CA1015849525 | BFSP1 | c.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 |
20 | g.17499000C>A | CA408317542 | BFSP1 | c.776G>T (p.Cys259Phe) c.359G>T (p.Cys120Phe) c.401G>T (p.Cys134Phe) c.443G>T (p.Cys148Phe) c.668G>T (p.Cys223Phe) | |
20 | g.17499000C= | CA2353084892 | BFSP1 | c.776G= (p.Cys259=) c.359G= (p.Cys120=) c.401G= (p.Cys134=) c.443G= (p.Cys148=) c.668G= (p.Cys223=) | |
20 | g.17499000C>G | CA145189 | BFSP1 | c.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 |
20 | g.17499000C>T | CA408317544 | BFSP1 | c.776G>A (p.Cys259Tyr) c.359G>A (p.Cys120Tyr) c.401G>A (p.Cys134Tyr) c.443G>A (p.Cys148Tyr) c.668G>A (p.Cys223Tyr) | |
20 | g.17499001A>C | CA408317550 | BFSP1 | c.775T>G (p.Cys259Gly) c.358T>G (p.Cys120Gly) c.400T>G (p.Cys134Gly) c.442T>G (p.Cys148Gly) c.667T>G (p.Cys223Gly) | |
20 | g.17499001A>G | CA408317547 | BFSP1 | c.775T>C (p.Cys259Arg) c.358T>C (p.Cys120Arg) c.400T>C (p.Cys134Arg) c.442T>C (p.Cys148Arg) c.667T>C (p.Cys223Arg) | |
20 | g.17499001A>T | CA408317549 | BFSP1 | c.775T>A (p.Cys259Ser) c.358T>A (p.Cys120Ser) c.400T>A (p.Cys134Ser) c.442T>A (p.Cys148Ser) c.667T>A (p.Cys223Ser) | |
20 | g.17499002C>A | CA408317552 | BFSP1 | c.774G>T (p.Glu258Asp) c.357G>T (p.Glu119Asp) c.399G>T (p.Glu133Asp) c.441G>T (p.Glu147Asp) c.666G>T (p.Glu222Asp) | |
20 | g.17499002C= | CA2353084893 | BFSP1 | c.774G= (p.Glu258=) c.357G= (p.Glu119=) c.399G= (p.Glu133=) c.441G= (p.Glu147=) c.666G= (p.Glu222=) | |
20 | g.17499002C>G | CA408317554 | BFSP1 | c.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 |
20 | g.17499002C>T | CA509810296 | BFSP1 | c.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 |
20 | g.17499003T>A | CA408317556 | BFSP1 | c.773A>T (p.Glu258Val) c.356A>T (p.Glu119Val) c.398A>T (p.Glu133Val) c.440A>T (p.Glu147Val) c.665A>T (p.Glu222Val) | |
20 | g.17499003T>C | CA408317558 | BFSP1 | c.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 |
20 | g.17499003T>G | CA408317560 | BFSP1 | c.773A>C (p.Glu258Ala) c.356A>C (p.Glu119Ala) c.398A>C (p.Glu133Ala) c.440A>C (p.Glu147Ala) c.665A>C (p.Glu222Ala) | |
20 | g.17499004C>A | CA408317562 | BFSP1 | c.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 |
20 | g.17499004C= | CA2353084894 | BFSP1 | c.772G= (p.Glu258=) c.355G= (p.Glu119=) c.397G= (p.Glu133=) c.439G= (p.Glu147=) c.664G= (p.Glu222=) | |
20 | g.17499004C>G | CA408317565 | BFSP1 | c.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 |
20 | g.17499004C>T | CA408317563 | BFSP1 | c.772G>A (p.Glu258Lys) c.355G>A (p.Glu119Lys) c.397G>A (p.Glu133Lys) c.439G>A (p.Glu147Lys) c.664G>A (p.Glu222Lys) | |
20 | g.17499005A>C | CA408317566 | BFSP1 | c.771T>G (p.His257Gln) c.354T>G (p.His118Gln) c.396T>G (p.His132Gln) c.438T>G (p.His146Gln) c.663T>G (p.His221Gln) | |
20 | g.17499005A>G | CA509810297 | BFSP1 | c.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 |
20 | g.17499005A>T | CA408317568 | BFSP1 | c.771T>A (p.His257Gln) c.354T>A (p.His118Gln) c.396T>A (p.His132Gln) c.438T>A (p.His146Gln) c.663T>A (p.His221Gln) | |
20 | g.17499006T>A | CA408317570 | BFSP1 | c.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 |
20 | g.17499006T>C | CA312242357 | BFSP1 | c.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 |
20 | g.17499006T>G | CA408317572 | BFSP1 | c.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 |
20 | g.17499006T= | CA2353084895 | BFSP1 | c.770A= (p.His257=) c.353A= (p.His118=) c.395A= (p.His132=) c.437A= (p.His146=) c.662A= (p.His221=) | |
20 | g.17499007G>A | CA408317574 | BFSP1 | c.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 |
20 | g.17499007G>C | CA408317575 | BFSP1 | c.769C>G (p.His257Asp) c.352C>G (p.His118Asp) c.394C>G (p.His132Asp) c.436C>G (p.His146Asp) c.661C>G (p.His221Asp) | |
20 | g.17499007G= | CA2353084896 | BFSP1 | c.769C= (p.His257=) c.352C= (p.His118=) c.394C= (p.His132=) c.436C= (p.His146=) c.661C= (p.His221=) | |
20 | g.17499007G>T | CA408317577 | BFSP1 | c.769C>A (p.His257Asn) c.352C>A (p.His118Asn) c.394C>A (p.His132Asn) c.436C>A (p.His146Asn) c.661C>A (p.His221Asn) | |
20 | g.17499008G>A | CA509810298 | BFSP1 | c.768C>T (p.Ala256=) c.351C>T (p.Ala117=) c.393C>T (p.Ala131=) c.435C>T (p.Ala145=) c.660C>T (p.Ala220=) | |
20 | g.17499008G>C | CA509810299 | BFSP1 | c.768C>G (p.Ala256=) c.351C>G (p.Ala117=) c.393C>G (p.Ala131=) c.435C>G (p.Ala145=) c.660C>G (p.Ala220=) | |
20 | g.17499008G>T | CA509810300 | BFSP1 | c.768C>A (p.Ala256=) c.351C>A (p.Ala117=) c.393C>A (p.Ala131=) c.435C>A (p.Ala145=) c.660C>A (p.Ala220=) | |
20 | g.17499009G>A | CA408317578 | BFSP1 | c.767C>T (p.Ala256Val) c.350C>T (p.Ala117Val) c.392C>T (p.Ala131Val) c.434C>T (p.Ala145Val) c.659C>T (p.Ala220Val) | |
20 | g.17499009G>C | CA408317580 | BFSP1 | c.767C>G (p.Ala256Gly) c.350C>G (p.Ala117Gly) c.392C>G (p.Ala131Gly) c.434C>G (p.Ala145Gly) c.659C>G (p.Ala220Gly) | |
20 | g.17499009G>T | CA408317582 | BFSP1 | c.767C>A (p.Ala256Asp) c.350C>A (p.Ala117Asp) c.392C>A (p.Ala131Asp) c.434C>A (p.Ala145Asp) c.659C>A (p.Ala220Asp) | |
20 | g.17499010C>A | CA408317587 | BFSP1 | c.766G>T (p.Ala256Ser) c.349G>T (p.Ala117Ser) c.391G>T (p.Ala131Ser) c.433G>T (p.Ala145Ser) c.658G>T (p.Ala220Ser) | |
20 | g.17499010C>G | CA408317588 | BFSP1 | c.766G>C (p.Ala256Pro) c.349G>C (p.Ala117Pro) c.391G>C (p.Ala131Pro) c.433G>C (p.Ala145Pro) c.658G>C (p.Ala220Pro) | |
20 | g.17499010C>T | CA408317584 | BFSP1 | c.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 |
20 | g.17499011A= | CA2353084897 | BFSP1 | c.765T= (p.Ser255=) c.348T= (p.Ser116=) c.390T= (p.Ser130=) c.432T= (p.Ser144=) c.657T= (p.Ser219=) | |
20 | g.17499011A>C | CA408317592 | BFSP1 | c.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 |
20 | g.17499011A>G | CA509810301 | BFSP1 | c.765T>C (p.Ser255=) c.348T>C (p.Ser116=) c.390T>C (p.Ser130=) c.432T>C (p.Ser144=) c.657T>C (p.Ser219=) | |
20 | g.17499011A>T | CA408317590 | BFSP1 | c.765T>A (p.Ser255Arg) c.348T>A (p.Ser116Arg) c.390T>A (p.Ser130Arg) c.432T>A (p.Ser144Arg) c.657T>A (p.Ser219Arg) | |
20 | g.17499012C>A | CA408317595 | BFSP1 | c.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 |
20 | g.17499012C= | CA2353084898 | BFSP1 | c.764G= (p.Ser255=) c.347G= (p.Ser116=) c.389G= (p.Ser130=) c.431G= (p.Ser144=) c.656G= (p.Ser219=) | |
20 | g.17499012C>G | CA408317596 | BFSP1 | c.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 |
20 | g.17499012C>T | CA408317598 | BFSP1 | c.764G>A (p.Ser255Asn) c.347G>A (p.Ser116Asn) c.389G>A (p.Ser130Asn) c.431G>A (p.Ser144Asn) c.656G>A (p.Ser219Asn) | |
20 | g.17499013T>A | CA408317600 | BFSP1 | c.763A>T (p.Ser255Cys) c.346A>T (p.Ser116Cys) c.388A>T (p.Ser130Cys) c.430A>T (p.Ser144Cys) c.655A>T (p.Ser219Cys) | |
20 | g.17499013T>C | CA408317602 | BFSP1 | c.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 |
20 | g.17499013T>G | CA408317604 | BFSP1 | c.763A>C (p.Ser255Arg) c.346A>C (p.Ser116Arg) c.388A>C (p.Ser130Arg) c.430A>C (p.Ser144Arg) c.655A>C (p.Ser219Arg) | |
20 | g.17499014T>A | CA408317605 | BFSP1 | c.762A>T (p.Lys254Asn) c.345A>T (p.Lys115Asn) c.387A>T (p.Lys129Asn) c.429A>T (p.Lys143Asn) c.654A>T (p.Lys218Asn) | |
20 | g.17499014T>C | CA9772207 | BFSP1 | c.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 |
20 | g.17499014T>G | CA408317607 | BFSP1 | c.762A>C (p.Lys254Asn) c.345A>C (p.Lys115Asn) c.387A>C (p.Lys129Asn) c.429A>C (p.Lys143Asn) c.654A>C (p.Lys218Asn) | |
20 | g.17499014T= | CA2353084899 | BFSP1 | c.762A= (p.Lys254=) c.345A= (p.Lys115=) c.387A= (p.Lys129=) c.429A= (p.Lys143=) c.654A= (p.Lys218=) | |
20 | g.17499015T>A | CA408317609 | BFSP1 | c.761A>T (p.Lys254Ile) c.344A>T (p.Lys115Ile) c.386A>T (p.Lys129Ile) c.428A>T (p.Lys143Ile) c.653A>T (p.Lys218Ile) | |
20 | g.17499015T>C | CA408317611 | BFSP1 | c.761A>G (p.Lys254Arg) c.344A>G (p.Lys115Arg) c.386A>G (p.Lys129Arg) c.428A>G (p.Lys143Arg) c.653A>G (p.Lys218Arg) | |
20 | g.17499015T>G | CA408317612 | BFSP1 | c.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 |
20 | g.17499016T>A | CA408317614 | BFSP1 | c.760A>T (p.Lys254Ter) c.343A>T (p.Lys115Ter) c.385A>T (p.Lys129Ter) c.427A>T (p.Lys143Ter) c.652A>T (p.Lys218Ter) | |
20 | g.17499016T>C | CA408317618 | BFSP1 | c.760A>G (p.Lys254Glu) c.343A>G (p.Lys115Glu) c.385A>G (p.Lys129Glu) c.427A>G (p.Lys143Glu) c.652A>G (p.Lys218Glu) | |
20 | g.17499016T>G | CA408317616 | BFSP1 | c.760A>C (p.Lys254Gln) c.343A>C (p.Lys115Gln) c.385A>C (p.Lys129Gln) c.427A>C (p.Lys143Gln) c.652A>C (p.Lys218Gln) | |
20 | g.17499017A>C | CA408317619 | BFSP1 | c.759T>G (p.Ile253Met) c.342T>G (p.Ile114Met) c.384T>G (p.Ile128Met) c.426T>G (p.Ile142Met) c.651T>G (p.Ile217Met) | |
20 | g.17499017A>G | CA509810302 | BFSP1 | c.759T>C (p.Ile253=) c.342T>C (p.Ile114=) c.384T>C (p.Ile128=) c.426T>C (p.Ile142=) c.651T>C (p.Ile217=) | |
20 | g.17499017A>T | CA509810303 | BFSP1 | c.759T>A (p.Ile253=) c.342T>A (p.Ile114=) c.384T>A (p.Ile128=) c.426T>A (p.Ile142=) c.651T>A (p.Ile217=) | |
20 | g.17499018A>C | CA408317622 | BFSP1 | c.758T>G (p.Ile253Ser) c.341T>G (p.Ile114Ser) c.383T>G (p.Ile128Ser) c.425T>G (p.Ile142Ser) c.650T>G (p.Ile217Ser) | |
20 | g.17499018A>G | CA408317623 | BFSP1 | c.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 |
20 | g.17499018A>T | CA408317625 | BFSP1 | c.758T>A (p.Ile253Asn) c.341T>A (p.Ile114Asn) c.383T>A (p.Ile128Asn) c.425T>A (p.Ile142Asn) c.650T>A (p.Ile217Asn) | |
20 | g.17499019T>A | CA408317627 | BFSP1 | c.757A>T (p.Ile253Phe) c.340A>T (p.Ile114Phe) c.382A>T (p.Ile128Phe) c.424A>T (p.Ile142Phe) c.649A>T (p.Ile217Phe) | |
20 | g.17499019T>C | CA408317628 | BFSP1 | c.757A>G (p.Ile253Val) c.340A>G (p.Ile114Val) c.382A>G (p.Ile128Val) c.424A>G (p.Ile142Val) c.649A>G (p.Ile217Val) | |
20 | g.17499019T>G | CA408317629 | BFSP1 | c.757A>C (p.Ile253Leu) c.340A>C (p.Ile114Leu) c.382A>C (p.Ile128Leu) c.424A>C (p.Ile142Leu) c.649A>C (p.Ile217Leu) | |
20 | g.17499020A>C | CA509810306 | BFSP1 | c.756T>G (p.Ala252=) c.339T>G (p.Ala113=) c.381T>G (p.Ala127=) c.423T>G (p.Ala141=) c.648T>G (p.Ala216=) | |
20 | g.17499020A>G | CA509810304 | BFSP1 | c.756T>C (p.Ala252=) c.339T>C (p.Ala113=) c.381T>C (p.Ala127=) c.423T>C (p.Ala141=) c.648T>C (p.Ala216=) | |
20 | g.17499020A>T | CA509810305 | BFSP1 | c.756T>A (p.Ala252=) c.339T>A (p.Ala113=) c.381T>A (p.Ala127=) c.423T>A (p.Ala141=) c.648T>A (p.Ala216=) | |
20 | g.17499021G>A | CA408317631 | BFSP1 | c.755C>T (p.Ala252Val) c.338C>T (p.Ala113Val) c.380C>T (p.Ala127Val) c.422C>T (p.Ala141Val) c.647C>T (p.Ala216Val) | |
20 | g.17499021G>C | CA408317633 | BFSP1 | c.755C>G (p.Ala252Gly) c.338C>G (p.Ala113Gly) c.380C>G (p.Ala127Gly) c.422C>G (p.Ala141Gly) c.647C>G (p.Ala216Gly) | |
20 | g.17499021G>T | CA408317634 | BFSP1 | c.755C>A (p.Ala252Asp) c.338C>A (p.Ala113Asp) c.380C>A (p.Ala127Asp) c.422C>A (p.Ala141Asp) c.647C>A (p.Ala216Asp) | |
20 | g.17499022C>A | CA408317638 | BFSP1 | c.754G>T (p.Ala252Ser) c.337G>T (p.Ala113Ser) c.379G>T (p.Ala127Ser) c.421G>T (p.Ala141Ser) c.646G>T (p.Ala216Ser) | |
20 | g.17499022C>G | CA408317640 | BFSP1 | c.754G>C (p.Ala252Pro) c.337G>C (p.Ala113Pro) c.379G>C (p.Ala127Pro) c.421G>C (p.Ala141Pro) c.646G>C (p.Ala216Pro) | |
20 | g.17499022C>T | CA408317636 | BFSP1 | c.754G>A (p.Ala252Thr) c.337G>A (p.Ala113Thr) c.379G>A (p.Ala127Thr) c.421G>A (p.Ala141Thr) c.646G>A (p.Ala216Thr) | |
20 | g.17499023T>A | CA408317642 | BFSP1 | c.753A>T (p.Gln251His) c.336A>T (p.Gln112His) c.378A>T (p.Gln126His) c.420A>T (p.Gln140His) c.645A>T (p.Gln215His) | |
20 | g.17499023T>C | CA509810307 | BFSP1 | c.753A>G (p.Gln251=) c.336A>G (p.Gln112=) c.378A>G (p.Gln126=) c.420A>G (p.Gln140=) c.645A>G (p.Gln215=) | |
20 | g.17499023T>G | CA408317644 | BFSP1 | c.753A>C (p.Gln251His) c.336A>C (p.Gln112His) c.378A>C (p.Gln126His) c.420A>C (p.Gln140His) c.645A>C (p.Gln215His) | |
20 | g.17499024T>A | CA408317646 | BFSP1 | c.752A>T (p.Gln251Leu) c.335A>T (p.Gln112Leu) c.377A>T (p.Gln126Leu) c.419A>T (p.Gln140Leu) c.644A>T (p.Gln215Leu) | |
20 | g.17499024T>C | CA408317648 | BFSP1 | c.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 |
20 | g.17499024T>G | CA408317649 | BFSP1 | c.752A>C (p.Gln251Pro) c.335A>C (p.Gln112Pro) c.377A>C (p.Gln126Pro) c.419A>C (p.Gln140Pro) c.644A>C (p.Gln215Pro) | |
20 | g.17499024_17499031delinsTGTTCCAG | CA2353084900 | BFSP1 | c.745_752delinsCTGGAACA (p.Leu249=) c.328_335delinsCTGGAACA (p.Leu110=) c.370_377delinsCTGGAACA (p.Leu124=) c.412_419delinsCTGGAACA (p.Leu138=) c.637_644delinsCTGGAACA (p.Leu213=) | |
20 | g.17499025del | CA2651989255 | BFSP1 | c.751del (p.Gln251LysfsTer?) c.334del (p.Gln112LysfsTer?) c.376del (p.Gln126LysfsTer?) c.418del (p.Gln140LysfsTer?) c.643del (p.Gln215LysfsTer?) | gnomAD v4 |
20 | g.17499025G>A | CA408317652 | BFSP1 | c.751C>T (p.Gln251Ter) c.334C>T (p.Gln112Ter) c.376C>T (p.Gln126Ter) c.418C>T (p.Gln140Ter) c.643C>T (p.Gln215Ter) | |
20 | g.17499025G>C | CA408317654 | BFSP1 | c.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 |
20 | g.17499025G>T | CA408317655 | BFSP1 | c.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 |
20 | g.17499025_17499031del | CA2353084901 | BFSP1 | c.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 |
20 | g.17499026T>A | CA408317657 | BFSP1 | c.750A>T (p.Glu250Asp) c.333A>T (p.Glu111Asp) c.375A>T (p.Glu125Asp) c.417A>T (p.Glu139Asp) c.642A>T (p.Glu214Asp) | |
20 | g.17499026T>C | CA509810308 | BFSP1 | c.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 |
20 | g.17499026T>G | CA408317659 | BFSP1 | c.750A>C (p.Glu250Asp) c.333A>C (p.Glu111Asp) c.375A>C (p.Glu125Asp) c.417A>C (p.Glu139Asp) c.642A>C (p.Glu214Asp) | |
20 | g.17499026T= | CA2353084902 | BFSP1 | c.750A= (p.Glu250=) c.333A= (p.Glu111=) c.375A= (p.Glu125=) c.417A= (p.Glu139=) c.642A= (p.Glu214=) | |
20 | g.17499027T>A | CA408317660 | BFSP1 | c.749A>T (p.Glu250Val) c.332A>T (p.Glu111Val) c.374A>T (p.Glu125Val) c.416A>T (p.Glu139Val) c.641A>T (p.Glu214Val) | |
20 | g.17499027T>C | CA408317661 | BFSP1 | c.749A>G (p.Glu250Gly) c.332A>G (p.Glu111Gly) c.374A>G (p.Glu125Gly) c.416A>G (p.Glu139Gly) c.641A>G (p.Glu214Gly) | |
20 | g.17499027T>G | CA408317662 | BFSP1 | c.749A>C (p.Glu250Ala) c.332A>C (p.Glu111Ala) c.374A>C (p.Glu125Ala) c.416A>C (p.Glu139Ala) c.641A>C (p.Glu214Ala) | |
20 | g.17499027_17499032del | CA2651989256 | BFSP1 | c.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 |
20 | g.17499028C>A | CA408317665 | BFSP1 | c.748G>T (p.Glu250Ter) c.331G>T (p.Glu111Ter) c.373G>T (p.Glu125Ter) c.415G>T (p.Glu139Ter) c.640G>T (p.Glu214Ter) | |
20 | g.17499028C>G | CA408317664 | BFSP1 | c.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 |
20 | g.17499028C>T | CA408317663 | BFSP1 | c.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 |
20 | g.17499029C>A | CA509810309 | BFSP1 | c.747G>T (p.Leu249=) c.330G>T (p.Leu110=) c.372G>T (p.Leu124=) c.414G>T (p.Leu138=) c.639G>T (p.Leu213=) | |
20 | g.17499029C= | CA2353084903 | BFSP1 | c.747G= (p.Leu249=) c.330G= (p.Leu110=) c.372G= (p.Leu124=) c.414G= (p.Leu138=) c.639G= (p.Leu213=) | |
20 | g.17499029C>G | CA509810310 | BFSP1 | c.747G>C (p.Leu249=) c.330G>C (p.Leu110=) c.372G>C (p.Leu124=) c.414G>C (p.Leu138=) c.639G>C (p.Leu213=) | |
20 | g.17499029C>T | CA509810311 | BFSP1 | c.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 |
20 | g.17499030A>C | CA408317666 | BFSP1 | c.746T>G (p.Leu249Arg) c.329T>G (p.Leu110Arg) c.371T>G (p.Leu124Arg) c.413T>G (p.Leu138Arg) c.638T>G (p.Leu213Arg) | |
20 | g.17499030A>G | CA408317667 | BFSP1 | c.746T>C (p.Leu249Pro) c.329T>C (p.Leu110Pro) c.371T>C (p.Leu124Pro) c.413T>C (p.Leu138Pro) c.638T>C (p.Leu213Pro) | |
20 | g.17499030A>T | CA408317668 | BFSP1 | c.746T>A (p.Leu249Gln) c.329T>A (p.Leu110Gln) c.371T>A (p.Leu124Gln) c.413T>A (p.Leu138Gln) c.638T>A (p.Leu213Gln) | |
20 | g.17499031G>A | CA509810312 | BFSP1 | c.745C>T (p.Leu249=) c.328C>T (p.Leu110=) c.370C>T (p.Leu124=) c.412C>T (p.Leu138=) c.637C>T (p.Leu213=) | |
20 | g.17499031G>C | CA408317669 | BFSP1 | c.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 |
20 | g.17499031G>T | CA408317670 | BFSP1 | c.745C>A (p.Leu249Met) c.328C>A (p.Leu110Met) c.370C>A (p.Leu124Met) c.412C>A (p.Leu138Met) c.637C>A (p.Leu213Met) | |
20 | g.17499032A= | CA2353084904 | BFSP1 | c.744T= (p.Thr248=) c.327T= (p.Thr109=) c.369T= (p.Thr123=) c.411T= (p.Thr137=) c.636T= (p.Thr212=) | |
20 | g.17499032A>C | CA509810313 | BFSP1 | c.744T>G (p.Thr248=) c.327T>G (p.Thr109=) c.369T>G (p.Thr123=) c.411T>G (p.Thr137=) c.636T>G (p.Thr212=) | |
20 | g.17499032A>G | CA509810314 | BFSP1 | c.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 |
20 | g.17499032A>T | CA312242380 | BFSP1 | c.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 |
20 | g.17499033G>A | CA408317671 | BFSP1 | c.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 |
20 | g.17499033G>C | CA408317672 | BFSP1 | c.743C>G (p.Thr248Ser) c.326C>G (p.Thr109Ser) c.368C>G (p.Thr123Ser) c.410C>G (p.Thr137Ser) c.635C>G (p.Thr212Ser) | |
20 | g.17499033G>T | CA408317673 | BFSP1 | c.743C>A (p.Thr248Asn) c.326C>A (p.Thr109Asn) c.368C>A (p.Thr123Asn) c.410C>A (p.Thr137Asn) c.635C>A (p.Thr212Asn) | |
20 | g.17499038_17499040del | CA2577343541 | BFSP1 | c.741_743del (p.Thr248del) c.324_326del (p.Thr109del) c.366_368del (p.Thr123del) c.408_410del (p.Thr137del) c.633_635del (p.Thr212del) | |
20 | g.17499034T>A | CA408317674 | BFSP1 | c.742A>T (p.Thr248Ser) c.325A>T (p.Thr109Ser) c.367A>T (p.Thr123Ser) c.409A>T (p.Thr137Ser) c.634A>T (p.Thr212Ser) | |
20 | g.17499034T>C | CA408317675 | BFSP1 | c.742A>G (p.Thr248Ala) c.325A>G (p.Thr109Ala) c.367A>G (p.Thr123Ala) c.409A>G (p.Thr137Ala) c.634A>G (p.Thr212Ala) | |
20 | g.17499034T>G | CA408317676 | BFSP1 | c.742A>C (p.Thr248Pro) c.325A>C (p.Thr109Pro) c.367A>C (p.Thr123Pro) c.409A>C (p.Thr137Pro) c.634A>C (p.Thr212Pro) | |
20 | g.17499035T>A | CA509810315 | BFSP1 | c.741A>T (p.Thr247=) c.324A>T (p.Thr108=) c.366A>T (p.Thr122=) c.408A>T (p.Thr136=) c.633A>T (p.Thr211=) | |
20 | g.17499035T>C | CA509810316 | BFSP1 | c.741A>G (p.Thr247=) c.324A>G (p.Thr108=) c.366A>G (p.Thr122=) c.408A>G (p.Thr136=) c.633A>G (p.Thr211=) | |
20 | g.17499035T>G | CA509810317 | BFSP1 | c.741A>C (p.Thr247=) c.324A>C (p.Thr108=) c.366A>C (p.Thr122=) c.408A>C (p.Thr136=) c.633A>C (p.Thr211=) | |
20 | g.17499036G>A | CA408317677 | BFSP1 | c.740C>T (p.Thr247Ile) c.323C>T (p.Thr108Ile) c.365C>T (p.Thr122Ile) c.407C>T (p.Thr136Ile) c.632C>T (p.Thr211Ile) | |
20 | g.17499036G>C | CA408317678 | BFSP1 | c.740C>G (p.Thr247Arg) c.323C>G (p.Thr108Arg) c.365C>G (p.Thr122Arg) c.407C>G (p.Thr136Arg) c.632C>G (p.Thr211Arg) | |
20 | g.17499036G>T | CA408317679 | BFSP1 | c.740C>A (p.Thr247Lys) c.323C>A (p.Thr108Lys) c.365C>A (p.Thr122Lys) c.407C>A (p.Thr136Lys) c.632C>A (p.Thr211Lys) | |
20 | g.17499037T>A | CA408317681 | BFSP1 | c.739A>T (p.Thr247Ser) c.322A>T (p.Thr108Ser) c.364A>T (p.Thr122Ser) c.406A>T (p.Thr136Ser) c.631A>T (p.Thr211Ser) | |
20 | g.17499037T>C | CA408317682 | BFSP1 | c.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 |
20 | g.17499037T>G | CA408317680 | BFSP1 | c.739A>C (p.Thr247Pro) c.322A>C (p.Thr108Pro) c.364A>C (p.Thr122Pro) c.406A>C (p.Thr136Pro) c.631A>C (p.Thr211Pro) | |
20 | g.17499038T>A | CA509810318 | BFSP1 | c.738A>T (p.Thr246=) c.321A>T (p.Thr107=) c.363A>T (p.Thr121=) c.405A>T (p.Thr135=) c.630A>T (p.Thr210=) | |
20 | g.17499038T>C | CA509810319 | BFSP1 | c.738A>G (p.Thr246=) c.321A>G (p.Thr107=) c.363A>G (p.Thr121=) c.405A>G (p.Thr135=) c.630A>G (p.Thr210=) | |
20 | g.17499038T>G | CA509810320 | BFSP1 | c.738A>C (p.Thr246=) c.321A>C (p.Thr107=) c.363A>C (p.Thr121=) c.405A>C (p.Thr135=) c.630A>C (p.Thr210=) | |
20 | g.17499039G>A | CA408317684 | BFSP1 | c.737C>T (p.Thr246Ile) c.320C>T (p.Thr107Ile) c.362C>T (p.Thr121Ile) c.404C>T (p.Thr135Ile) c.629C>T (p.Thr210Ile) | |
20 | g.17499039G>C | CA408317683 | BFSP1 | c.737C>G (p.Thr246Arg) c.320C>G (p.Thr107Arg) c.362C>G (p.Thr121Arg) c.404C>G (p.Thr135Arg) c.629C>G (p.Thr210Arg) | |
20 | g.17499039G>T | CA408317685 | BFSP1 | c.737C>A (p.Thr246Lys) c.320C>A (p.Thr107Lys) c.362C>A (p.Thr121Lys) c.404C>A (p.Thr135Lys) c.629C>A (p.Thr210Lys) | |
20 | g.17499040T>A | CA408317686 | BFSP1 | c.736A>T (p.Thr246Ser) c.319A>T (p.Thr107Ser) c.361A>T (p.Thr121Ser) c.403A>T (p.Thr135Ser) c.628A>T (p.Thr210Ser) | |
20 | g.17499040T>C | CA9772208 | BFSP1 | c.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 |
20 | g.17499040T>G | CA408317687 | BFSP1 | c.736A>C (p.Thr246Pro) c.319A>C (p.Thr107Pro) c.361A>C (p.Thr121Pro) c.403A>C (p.Thr135Pro) c.628A>C (p.Thr210Pro) | |
20 | g.17499040T= | CA2353084905 | BFSP1 | c.736A= (p.Thr246=) c.319A= (p.Thr107=) c.361A= (p.Thr121=) c.403A= (p.Thr135=) c.628A= (p.Thr210=) | |
20 | g.17499041C>A | CA408317688 | BFSP1 | c.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 |
20 | g.17499041C>G | CA408317689 | BFSP1 | c.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 |
20 | g.17499041C>T | CA408317690 | BFSP1 | c.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) | |
20 | g.17499042T>A | CA408317691 | BFSP1 | c.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) | |
20 | g.17499042T>C | CA408317692 | BFSP1 | c.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) | |
20 | g.17499042T>G | CA408317693 | BFSP1 | c.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) | |
20 | g.17499043G>A | CA2651989257 | BFSP1 | c.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 |
20 | g.17499044T>C | CA2651989258 | BFSP1 | c.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 |
20 | g.17499044T>G | CA2353084907 | BFSP1 | c.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 |
20 | g.17499044T= | CA2353084906 | BFSP1 | c.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=) | |
20 | g.17499047G>A | CA2577343542 | BFSP1 | c.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) | |
20 | g.17499048del | CA2577343543 | BFSP1 | c.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) | |
20 | g.17499049A>G | CA2651989259 | BFSP1 | c.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 |
20 | g.17499050A>C | CA2651989260 | BFSP1 | c.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 |
20 | g.17499051G>C | CA741726962 | BFSP1 | c.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 |
20 | g.17499051G= | CA2353084908 | BFSP1 | c.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=) | |
20 | g.17499052G>A | CA2651989261 | BFSP1 | c.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 |
20 | g.17499054C= | CA2353084909 | BFSP1 | c.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=) | |
20 | g.17499054C>T | CA9772209 | BFSP1 | c.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 |
20 | g.17499056C= | CA2353084910 | BFSP1 | c.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=) | |
20 | g.17499056C>T | CA9772210 | BFSP1 | c.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 |
20 | g.17499057G>A | CA9772211 | BFSP1 | c.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 |
20 | g.17499057G= | CA2353084911 | BFSP1 | c.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=) | |
20 | g.17499058C= | CA2353084912 | BFSP1 | c.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=) | |
20 | g.17499058C>T | CA634417160 | BFSP1 | c.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 |
20 | g.17499059T>C | CA2577343544 | BFSP1 | c.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) | |
20 | g.17499059_17499060delinsTG | CA2353084913 | BFSP1 | c.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) | |
20 | g.17499059_17499061del | CA2815428217 | BFSP1 | c.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) | |
20 | g.17499060del | CA9772212 | BFSP1 | c.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 |
20 | g.17499060G>A | CA2651989263 | BFSP1 | c.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 |
20 | g.17499060G>T | CA2651989262 | BFSP1 | c.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 |
20 | g.17499061T>C | CA2651989264 | BFSP1 | c.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 |
20 | g.17499064G>A | CA2651989265 | BFSP1 | c.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 |
20 | g.17499064_17499065delinsGA | CA2353084914 | BFSP1 | c.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) | |
20 | g.17499068del | CA9772213 | BFSP1 | c.736-25del (n.736-25del) c.319-25del (n.319-25del) c.361-25del (n.361-25del) c.403-25del (n.403-25del) c.628-25del (n.628-25del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.17499066A>C | CA2815428218 | BFSP1 | c.736-26T>G (n.736-26T>G) c.319-26T>G (n.319-26T>G) c.361-26T>G (n.361-26T>G) c.403-26T>G (n.403-26T>G) c.628-26T>G (n.628-26T>G) | |
20 | g.17499066_17499067insCC | CA2815428219 | BFSP1 | c.736-27_736-26insGG (n.736-27_736-26insGG) c.319-27_319-26insGG (n.319-27_319-26insGG) c.361-27_361-26insGG (n.361-27_361-26insGG) c.403-27_403-26insGG (n.403-27_403-26insGG) c.628-27_628-26insGG (n.628-27_628-26insGG) | |
20 | g.17499069T>C | CA2651989266 | BFSP1 | c.736-29A>G (n.736-29A>G) c.319-29A>G (n.319-29A>G) c.361-29A>G (n.361-29A>G) c.403-29A>G (n.403-29A>G) c.628-29A>G (n.628-29A>G) | gnomAD v4 |
20 | g.17499071C= | CA2353084915 | BFSP1 | c.736-31G= (n.736-31G=) c.319-31G= (n.319-31G=) c.361-31G= (n.361-31G=) c.403-31G= (n.403-31G=) c.628-31G= (n.628-31G=) | |
20 | g.17499071C>T | CA741726977 | BFSP1 | c.736-31G>A (n.736-31G>A) c.319-31G>A (n.319-31G>A) c.361-31G>A (n.361-31G>A) c.403-31G>A (n.403-31G>A) c.628-31G>A (n.628-31G>A) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.17499072_17499073insAACACACCCAACACA | CA2815428220 | BFSP1 | c.736-31_736-30insTGTTGGGTGTGTTTG (n.736-31_736-30insTGTTGGGTGTGTTTG) c.319-31_319-30insTGTTGGGTGTGTTTG (n.319-31_319-30insTGTTGGGTGTGTTTG) c.361-31_361-30insTGTTGGGTGTGTTTG (n.361-31_361-30insTGTTGGGTGTGTTTG) c.403-31_403-30insTGTTGGGTGTGTTTG (n.403-31_403-30insTGTTGGGTGTGTTTG) c.628-31_628-30insTGTTGGGTGTGTTTG (n.628-31_628-30insTGTTGGGTGTGTTTG) | |
20 | g.17499072A= | CA2353084916 | BFSP1 | c.736-32T= (n.736-32T=) c.319-32T= (n.319-32T=) c.361-32T= (n.361-32T=) c.403-32T= (n.403-32T=) c.628-32T= (n.628-32T=) | |
20 | g.17499072A>C | CA2815428221 | BFSP1 | c.736-32T>G (n.736-32T>G) c.319-32T>G (n.319-32T>G) c.361-32T>G (n.361-32T>G) c.403-32T>G (n.403-32T>G) c.628-32T>G (n.628-32T>G) |