| 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.17498964A= | CA2353084877 | BFSP1 | c.812T= (p.Ile271=) c.395T= (p.Ile132=) c.437T= (p.Ile146=) c.479T= (p.Ile160=) c.704T= (p.Ile235=) | |
| 20 | g.17498964A>C | CA408317446 | BFSP1 | c.812T>G (p.Ile271Ser) c.395T>G (p.Ile132Ser) c.437T>G (p.Ile146Ser) c.479T>G (p.Ile160Ser) c.704T>G (p.Ile235Ser) | |
| 20 | g.17498964A>G | CA057949 | BFSP1 | c.812T>C (p.Ile271Thr) c.395T>C (p.Ile132Thr) c.437T>C (p.Ile146Thr) c.479T>C (p.Ile160Thr) c.704T>C (p.Ile235Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.17498964A>T | CA408317447 | BFSP1 | c.812T>A (p.Ile271Asn) c.395T>A (p.Ile132Asn) c.437T>A (p.Ile146Asn) c.479T>A (p.Ile160Asn) c.704T>A (p.Ile235Asn) | |
| 20 | g.17498965T>A | CA408317448 | BFSP1 | c.811A>T (p.Ile271Phe) c.394A>T (p.Ile132Phe) c.436A>T (p.Ile146Phe) c.478A>T (p.Ile160Phe) c.703A>T (p.Ile235Phe) | |
| 20 | g.17498965T>C | CA408317449 | BFSP1 | c.811A>G (p.Ile271Val) c.394A>G (p.Ile132Val) c.436A>G (p.Ile146Val) c.478A>G (p.Ile160Val) c.703A>G (p.Ile235Val) | |
| 20 | g.17498965T>G | CA408317450 | BFSP1 | c.811A>C (p.Ile271Leu) c.394A>C (p.Ile132Leu) c.436A>C (p.Ile146Leu) c.478A>C (p.Ile160Leu) c.703A>C (p.Ile235Leu) | |
| 20 | g.17498966C>A | CA408317451 | BFSP1 | c.810G>T (p.Gln270His) c.393G>T (p.Gln131His) c.435G>T (p.Gln145His) c.477G>T (p.Gln159His) c.702G>T (p.Gln234His) | |
| 20 | g.17498966C>G | CA408317452 | BFSP1 | c.810G>C (p.Gln270His) c.393G>C (p.Gln131His) c.435G>C (p.Gln145His) c.477G>C (p.Gln159His) c.702G>C (p.Gln234His) | |
| 20 | g.17498966C>T | CA509810285 | BFSP1 | c.810G>A (p.Gln270=) c.393G>A (p.Gln131=) c.435G>A (p.Gln145=) c.477G>A (p.Gln159=) c.702G>A (p.Gln234=) | gnomAD v4 |
| 20 | g.17498967T>A | CA408317453 | BFSP1 | c.809A>T (p.Gln270Leu) c.392A>T (p.Gln131Leu) c.434A>T (p.Gln145Leu) c.476A>T (p.Gln159Leu) c.701A>T (p.Gln234Leu) | |
| 20 | g.17498967T>C | CA408317454 | BFSP1 | c.809A>G (p.Gln270Arg) c.392A>G (p.Gln131Arg) c.434A>G (p.Gln145Arg) c.476A>G (p.Gln159Arg) c.701A>G (p.Gln234Arg) | |
| 20 | g.17498967T>G | CA408317455 | BFSP1 | c.809A>C (p.Gln270Pro) c.392A>C (p.Gln131Pro) c.434A>C (p.Gln145Pro) c.476A>C (p.Gln159Pro) c.701A>C (p.Gln234Pro) | |
| 20 | g.17498968G>A | CA408317458 | BFSP1 | c.808C>T (p.Gln270Ter) c.391C>T (p.Gln131Ter) c.433C>T (p.Gln145Ter) c.475C>T (p.Gln159Ter) c.700C>T (p.Gln234Ter) | |
| 20 | g.17498968G>C | CA408317456 | BFSP1 | c.808C>G (p.Gln270Glu) c.391C>G (p.Gln131Glu) c.433C>G (p.Gln145Glu) c.475C>G (p.Gln159Glu) c.700C>G (p.Gln234Glu) | |
| 20 | g.17498968G>T | CA408317457 | BFSP1 | c.808C>A (p.Gln270Lys) c.391C>A (p.Gln131Lys) c.433C>A (p.Gln145Lys) c.475C>A (p.Gln159Lys) c.700C>A (p.Gln234Lys) | |
| 20 | g.17498969C>A | CA408317459 | BFSP1 | c.807G>T (p.Glu269Asp) c.390G>T (p.Glu130Asp) c.432G>T (p.Glu144Asp) c.474G>T (p.Glu158Asp) c.699G>T (p.Glu233Asp) | |
| 20 | g.17498969C>G | CA408317460 | BFSP1 | c.807G>C (p.Glu269Asp) c.390G>C (p.Glu130Asp) c.432G>C (p.Glu144Asp) c.474G>C (p.Glu158Asp) c.699G>C (p.Glu233Asp) | |
| 20 | g.17498969C>T | CA509810286 | BFSP1 | c.807G>A (p.Glu269=) c.390G>A (p.Glu130=) c.432G>A (p.Glu144=) c.474G>A (p.Glu158=) c.699G>A (p.Glu233=) | |
| 20 | g.17498970T>A | CA408317461 | BFSP1 | c.806A>T (p.Glu269Val) c.389A>T (p.Glu130Val) c.431A>T (p.Glu144Val) c.473A>T (p.Glu158Val) c.698A>T (p.Glu233Val) | |
| 20 | g.17498970T>C | CA408317462 | BFSP1 | c.806A>G (p.Glu269Gly) c.389A>G (p.Glu130Gly) c.431A>G (p.Glu144Gly) c.473A>G (p.Glu158Gly) c.698A>G (p.Glu233Gly) | |
| 20 | g.17498970T>G | CA408317463 | BFSP1 | c.806A>C (p.Glu269Ala) c.389A>C (p.Glu130Ala) c.431A>C (p.Glu144Ala) c.473A>C (p.Glu158Ala) c.698A>C (p.Glu233Ala) | |
| 20 | g.17498971C>A | CA408317464 | BFSP1 | c.805G>T (p.Glu269Ter) c.388G>T (p.Glu130Ter) c.430G>T (p.Glu144Ter) c.472G>T (p.Glu158Ter) c.697G>T (p.Glu233Ter) | dbSNP |
| 20 | g.17498971C= | CA2353084878 | BFSP1 | c.805G= (p.Glu269=) c.388G= (p.Glu130=) c.430G= (p.Glu144=) c.472G= (p.Glu158=) c.697G= (p.Glu233=) | |
| 20 | g.17498971C>G | CA408317465 | BFSP1 | c.805G>C (p.Glu269Gln) c.388G>C (p.Glu130Gln) c.430G>C (p.Glu144Gln) c.472G>C (p.Glu158Gln) c.697G>C (p.Glu233Gln) | |
| 20 | g.17498971C>T | CA9772200 | BFSP1 | c.805G>A (p.Glu269Lys) c.388G>A (p.Glu130Lys) c.430G>A (p.Glu144Lys) c.472G>A (p.Glu158Lys) c.697G>A (p.Glu233Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.17498972G>A | CA9772201 | BFSP1 | c.804C>T (p.Asn268=) c.387C>T (p.Asn129=) c.429C>T (p.Asn143=) c.471C>T (p.Asn157=) c.696C>T (p.Asn232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.17498972G>C | CA408317466 | BFSP1 | c.804C>G (p.Asn268Lys) c.387C>G (p.Asn129Lys) c.429C>G (p.Asn143Lys) c.471C>G (p.Asn157Lys) c.696C>G (p.Asn232Lys) | |
| 20 | g.17498972G= | CA2353084879 | BFSP1 | c.804C= (p.Asn268=) c.387C= (p.Asn129=) c.429C= (p.Asn143=) c.471C= (p.Asn157=) c.696C= (p.Asn232=) | |
| 20 | g.17498972G>T | CA408317467 | BFSP1 | c.804C>A (p.Asn268Lys) c.387C>A (p.Asn129Lys) c.429C>A (p.Asn143Lys) c.471C>A (p.Asn157Lys) c.696C>A (p.Asn232Lys) | |
| 20 | g.17498973T>A | CA408317470 | BFSP1 | c.803A>T (p.Asn268Ile) c.386A>T (p.Asn129Ile) c.428A>T (p.Asn143Ile) c.470A>T (p.Asn157Ile) c.695A>T (p.Asn232Ile) | |
| 20 | g.17498973T>C | CA408317469 | BFSP1 | c.803A>G (p.Asn268Ser) c.386A>G (p.Asn129Ser) c.428A>G (p.Asn143Ser) c.470A>G (p.Asn157Ser) c.695A>G (p.Asn232Ser) | |
| 20 | g.17498973T>G | CA408317468 | BFSP1 | c.803A>C (p.Asn268Thr) c.386A>C (p.Asn129Thr) c.428A>C (p.Asn143Thr) c.470A>C (p.Asn157Thr) c.695A>C (p.Asn232Thr) | |
| 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=) |