Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.206767377G>A | CA2074924 | FASTKD2 | c.684G>A (p.Gln228=) n.742G>A | dbSNP ExAC gnomAD v2 |
2 | g.206767377G>C | CA2074923 | FASTKD2 | c.684G>C (p.Gln228His) n.742G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767377G= | CA1323324793 | FASTKD2 | c.684G= (p.Gln228=) n.742G= | |
2 | g.206767377G>T | CA350073098 | FASTKD2 | c.684G>T (p.Gln228His) n.742G>T | |
2 | g.206767378T>A | CA350073101 | FASTKD2 | c.685T>A (p.Tyr229Asn) n.743T>A | |
2 | g.206767378T>C | CA350073102 | FASTKD2 | c.685T>C (p.Tyr229His) n.743T>C | gnomAD v4 |
2 | g.206767378T>G | CA350073103 | FASTKD2 | c.685T>G (p.Tyr229Asp) n.743T>G | |
2 | g.206767379A= | CA1323324813 | FASTKD2 | c.686A= (p.Tyr229=) n.744A= | |
2 | g.206767379A>C | CA350073104 | FASTKD2 | c.686A>C (p.Tyr229Ser) n.744A>C | gnomAD v4 |
2 | g.206767379A>G | CA2074925 | FASTKD2 | c.686A>G (p.Tyr229Cys) n.744A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767379A>T | CA350073108 | FASTKD2 | c.686A>T (p.Tyr229Phe) n.744A>T | dbSNP |
2 | g.206767380T>A | CA350073111 | FASTKD2 | c.687T>A (p.Tyr229Ter) n.745T>A | |
2 | g.206767380T>C | CA431114896 | FASTKD2 | c.687T>C (p.Tyr229=) n.745T>C | |
2 | g.206767380T>G | CA350073113 | FASTKD2 | c.687T>G (p.Tyr229Ter) n.745T>G | |
2 | g.206767381A>C | CA350073125 | FASTKD2 | c.688A>C (p.Lys230Gln) n.746A>C | |
2 | g.206767381A>G | CA350073124 | FASTKD2 | c.688A>G (p.Lys230Glu) n.746A>G | |
2 | g.206767381A>T | CA350073123 | FASTKD2 | c.688A>T (p.Lys230Ter) n.746A>T | |
2 | g.206767381_206767382dup | CA2662829158 | FASTKD2 | c.688_689dup (p.Tyr231SerfsTer10) n.746_747dup | gnomAD v4 |
2 | g.206767382A>C | CA350073126 | FASTKD2 | c.689A>C (p.Lys230Thr) n.747A>C | |
2 | g.206767382A>G | CA350073128 | FASTKD2 | c.689A>G (p.Lys230Arg) n.747A>G | |
2 | g.206767382A>T | CA350073129 | FASTKD2 | c.689A>T (p.Lys230Met) n.747A>T | |
2 | g.206767383G>A | CA431114906 | FASTKD2 | c.690G>A (p.Lys230=) n.748G>A | dbSNP gnomAD v2 |
2 | g.206767383G>C | CA350073134 | FASTKD2 | c.690G>C (p.Lys230Asn) n.748G>C | |
2 | g.206767383G= | CA1323324821 | FASTKD2 | c.690G= (p.Lys230=) n.748G= | |
2 | g.206767383G>T | CA350073136 | FASTKD2 | c.690G>T (p.Lys230Asn) n.748G>T | |
2 | g.206767384T>A | CA350073139 | FASTKD2 | c.691T>A (p.Tyr231Asn) n.749T>A | |
2 | g.206767384T>C | CA350073141 | FASTKD2 | c.691T>C (p.Tyr231His) n.749T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767384T>G | CA350073144 | FASTKD2 | c.691T>G (p.Tyr231Asp) n.749T>G | |
2 | g.206767384T= | CA1323324835 | FASTKD2 | c.691T= (p.Tyr231=) n.749T= | |
2 | g.206767385A>C | CA350073146 | FASTKD2 | c.692A>C (p.Tyr231Ser) n.750A>C | |
2 | g.206767385A>G | CA350073148 | FASTKD2 | c.692A>G (p.Tyr231Cys) n.750A>G | |
2 | g.206767385A>T | CA350073151 | FASTKD2 | c.692A>T (p.Tyr231Phe) n.750A>T | |
2 | g.206767386C>A | CA350073155 | FASTKD2 | c.693C>A (p.Tyr231Ter) n.751C>A | |
2 | g.206767386C>G | CA350073157 | FASTKD2 | c.693C>G (p.Tyr231Ter) n.751C>G | |
2 | g.206767386C>T | CA431114915 | FASTKD2 | c.693C>T (p.Tyr231=) n.751C>T | |
2 | g.206767387C>A | CA350073159 | FASTKD2 | c.694C>A (p.Leu232Ile) n.752C>A | |
2 | g.206767387C= | CA1323324841 | FASTKD2 | c.694C= (p.Leu232=) n.752C= | |
2 | g.206767387C>G | CA350073161 | FASTKD2 | c.694C>G (p.Leu232Val) n.752C>G | gnomAD v4 |
2 | g.206767387C>T | CA431114920 | FASTKD2 | c.694C>T (p.Leu232=) n.752C>T | dbSNP gnomAD v4 |
2 | g.206767388T>A | CA350073165 | FASTKD2 | c.695T>A (p.Leu232Gln) n.753T>A | |
2 | g.206767388T>C | CA350073168 | FASTKD2 | c.695T>C (p.Leu232Pro) n.753T>C | |
2 | g.206767388T>G | CA350073171 | FASTKD2 | c.695T>G (p.Leu232Arg) n.753T>G | |
2 | g.206767389A= | CA1323324848 | FASTKD2 | c.696A= (p.Leu232=) n.754A= | |
2 | g.206767389A>C | CA431114931 | FASTKD2 | c.696A>C (p.Leu232=) n.754A>C | ClinVar dbSNP gnomAD v4 |
2 | g.206767389A>G | CA63710276 | FASTKD2 | c.696A>G (p.Leu232=) n.754A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767389A>T | CA431114932 | FASTKD2 | c.696A>T (p.Leu232=) n.754A>T | |
2 | g.206767390C>A | CA350073174 | FASTKD2 | c.697C>A (p.Leu233Met) n.755C>A | |
2 | g.206767390C= | CA1323324854 | FASTKD2 | c.697C= (p.Leu233=) n.755C= | |
2 | g.206767390C>G | CA350073177 | FASTKD2 | c.697C>G (p.Leu233Val) n.755C>G | |
2 | g.206767390C>T | CA431114935 | FASTKD2 | c.697C>T (p.Leu233=) n.755C>T | dbSNP gnomAD v2 |
2 | g.206767391T>A | CA350073180 | FASTKD2 | c.698T>A (p.Leu233Gln) n.756T>A | |
2 | g.206767391T>C | CA350073183 | FASTKD2 | c.698T>C (p.Leu233Pro) n.756T>C | gnomAD v4 |
2 | g.206767391T>G | CA350073185 | FASTKD2 | c.698T>G (p.Leu233Arg) n.756T>G | |
2 | g.206767392G>A | CA431114944 | FASTKD2 | c.699G>A (p.Leu233=) n.757G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767392G>C | CA431114945 | FASTKD2 | c.699G>C (p.Leu233=) n.757G>C | |
2 | g.206767392G= | CA1323324859 | FASTKD2 | c.699G= (p.Leu233=) n.757G= | |
2 | g.206767392G>T | CA431114946 | FASTKD2 | c.699G>T (p.Leu233=) n.757G>T | gnomAD v4 |
2 | g.206767393T>A | CA350073192 | FASTKD2 | c.700T>A (p.Phe234Ile) n.758T>A | |
2 | g.206767393T>C | CA350073195 | FASTKD2 | c.700T>C (p.Phe234Leu) n.758T>C | gnomAD v4 |
2 | g.206767393T>G | CA350073197 | FASTKD2 | c.700T>G (p.Phe234Val) n.758T>G | |
2 | g.206767394T>A | CA350073206 | FASTKD2 | c.701T>A (p.Phe234Tyr) n.759T>A | |
2 | g.206767394T>C | CA350073204 | FASTKD2 | c.701T>C (p.Phe234Ser) n.759T>C | dbSNP |
2 | g.206767394T>G | CA350073200 | FASTKD2 | c.701T>G (p.Phe234Cys) n.759T>G | |
2 | g.206767394T= | CA1323324867 | FASTKD2 | c.701T= (p.Phe234=) n.759T= | |
2 | g.206767395C>A | CA350073208 | FASTKD2 | c.702C>A (p.Phe234Leu) n.760C>A | gnomAD v4 |
2 | g.206767395C>G | CA350073209 | FASTKD2 | c.702C>G (p.Phe234Leu) n.760C>G | |
2 | g.206767395C>T | CA431114953 | FASTKD2 | c.702C>T (p.Phe234=) n.760C>T | |
2 | g.206767396A>C | CA350073212 | FASTKD2 | c.703A>C (p.Ser235Arg) n.761A>C | |
2 | g.206767396A>G | CA350073214 | FASTKD2 | c.703A>G (p.Ser235Gly) n.761A>G | gnomAD v4 |
2 | g.206767396A>T | CA350073215 | FASTKD2 | c.703A>T (p.Ser235Cys) n.761A>T | |
2 | g.206767397G>A | CA350073219 | FASTKD2 | c.704G>A (p.Ser235Asn) n.762G>A | |
2 | g.206767397G>C | CA350073220 | FASTKD2 | c.704G>C (p.Ser235Thr) n.762G>C | |
2 | g.206767397G>T | CA350073222 | FASTKD2 | c.704G>T (p.Ser235Ile) n.762G>T | |
2 | g.206767398T>A | CA350073224 | FASTKD2 | c.705T>A (p.Ser235Arg) n.763T>A | |
2 | g.206767398T>C | CA431114955 | FASTKD2 | c.705T>C (p.Ser235=) n.763T>C | |
2 | g.206767398T>G | CA350073226 | FASTKD2 | c.705T>G (p.Ser235Arg) n.763T>G | |
2 | g.206767399C>A | CA350073229 | FASTKD2 | c.706C>A (p.Leu236Ile) n.764C>A | |
2 | g.206767399C= | CA1323324873 | FASTKD2 | c.706C= (p.Leu236=) n.764C= | |
2 | g.206767399C>G | CA350073231 | FASTKD2 | c.706C>G (p.Leu236Val) n.764C>G | |
2 | g.206767399C>T | CA2074926 | FASTKD2 | c.706C>T (p.Leu236Phe) n.764C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767400T>A | CA350073235 | FASTKD2 | c.707T>A (p.Leu236His) n.765T>A | gnomAD v4 |
2 | g.206767400T>C | CA350073237 | FASTKD2 | c.707T>C (p.Leu236Pro) n.765T>C | |
2 | g.206767400T>G | CA350073233 | FASTKD2 | c.707T>G (p.Leu236Arg) n.765T>G | |
2 | g.206767401T>A | CA431114966 | FASTKD2 | c.708T>A (p.Leu236=) n.766T>A | |
2 | g.206767401T>C | CA431114965 | FASTKD2 | c.708T>C (p.Leu236=) n.766T>C | gnomAD v4 |
2 | g.206767401T>G | CA431114964 | FASTKD2 | c.708T>G (p.Leu236=) n.766T>G | |
2 | g.206767402C>A | CA350073242 | FASTKD2 | c.709C>A (p.His237Asn) n.767C>A | gnomAD v4 |
2 | g.206767402C= | CA1323324874 | FASTKD2 | c.709C= (p.His237=) n.767C= | |
2 | g.206767402C>G | CA350073239 | FASTKD2 | c.709C>G (p.His237Asp) n.767C>G | |
2 | g.206767402C>T | CA2074927 | FASTKD2 | c.709C>T (p.His237Tyr) n.767C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767403A>C | CA350073244 | FASTKD2 | c.710A>C (p.His237Pro) n.768A>C | |
2 | g.206767403A>G | CA350073246 | FASTKD2 | c.710A>G (p.His237Arg) n.768A>G | |
2 | g.206767403A>T | CA350073248 | FASTKD2 | c.710A>T (p.His237Leu) n.768A>T | gnomAD v4 |
2 | g.206767404C>A | CA350073250 | FASTKD2 | c.711C>A (p.His237Gln) n.769C>A | |
2 | g.206767404C= | CA1323324875 | FASTKD2 | c.711C= (p.His237=) n.769C= | |
2 | g.206767404C>G | CA350073253 | FASTKD2 | c.711C>G (p.His237Gln) n.769C>G | gnomAD v4 |
2 | g.206767404C>T | CA2074928 | FASTKD2 | c.711C>T (p.His237=) n.769C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767405G>A | CA2074929 | FASTKD2 | c.712G>A (p.Ala238Thr) n.770G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.206767405G>C | CA350073257 | FASTKD2 | c.712G>C (p.Ala238Pro) n.770G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767405G= | CA1323324876 | FASTKD2 | c.712G= (p.Ala238=) n.770G= | |
2 | g.206767405G>T | CA350073259 | FASTKD2 | c.712G>T (p.Ala238Ser) n.770G>T | |
2 | g.206767406C>A | CA350073262 | FASTKD2 | c.713C>A (p.Ala238Asp) n.771C>A | |
2 | g.206767406C>G | CA350073263 | FASTKD2 | c.713C>G (p.Ala238Gly) n.771C>G | |
2 | g.206767406C>T | CA350073265 | FASTKD2 | c.713C>T (p.Ala238Val) n.771C>T | COSMIC |
2 | g.206767407C>A | CA2074930 | FASTKD2 | c.714C>A (p.Ala238=) n.772C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767407C= | CA1323324877 | FASTKD2 | c.714C= (p.Ala238=) n.772C= | |
2 | g.206767407C>G | CA431114986 | FASTKD2 | c.714C>G (p.Ala238=) n.772C>G | |
2 | g.206767407C>T | CA431114984 | FASTKD2 | c.714C>T (p.Ala238=) n.772C>T | |
2 | g.206767408A= | CA1323324878 | FASTKD2 | c.715A= (p.Ile239=) n.773A= | |
2 | g.206767408A>C | CA350073269 | FASTKD2 | c.715A>C (p.Ile239Leu) n.773A>C | |
2 | g.206767408A>G | CA2074931 | FASTKD2 | c.715A>G (p.Ile239Val) n.773A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767408A>T | CA350073272 | FASTKD2 | c.715A>T (p.Ile239Leu) n.773A>T | |
2 | g.206767409T>A | CA350073275 | FASTKD2 | c.716T>A (p.Ile239Lys) n.774T>A | |
2 | g.206767409T>C | CA350073277 | FASTKD2 | c.716T>C (p.Ile239Thr) n.774T>C | gnomAD v4 |
2 | g.206767409T>G | CA350073279 | FASTKD2 | c.716T>G (p.Ile239Arg) n.774T>G | |
2 | g.206767410A= | CA1323324879 | FASTKD2 | c.717A= (p.Ile239=) n.775A= | |
2 | g.206767410A>C | CA431114990 | FASTKD2 | c.717A>C (p.Ile239=) n.775A>C | |
2 | g.206767410A>G | CA350073280 | FASTKD2 | c.717A>G (p.Ile239Met) n.775A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767410A>T | CA431114994 | FASTKD2 | c.717A>T (p.Ile239=) n.775A>T | |
2 | g.206767411G>A | CA350073283 | FASTKD2 | c.718G>A (p.Val240Met) n.776G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767411G>C | CA350073285 | FASTKD2 | c.718G>C (p.Val240Leu) n.776G>C | |
2 | g.206767411G= | CA1323324880 | FASTKD2 | c.718G= (p.Val240=) n.776G= | |
2 | g.206767411G>T | CA350073288 | FASTKD2 | c.718G>T (p.Val240Leu) n.776G>T | |
2 | g.206767412T>A | CA350073290 | FASTKD2 | c.719T>A (p.Val240Glu) n.777T>A | |
2 | g.206767412T>C | CA350073292 | FASTKD2 | c.719T>C (p.Val240Ala) n.777T>C | |
2 | g.206767412T>G | CA350073293 | FASTKD2 | c.719T>G (p.Val240Gly) n.777T>G | |
2 | g.206767413G>A | CA431114998 | FASTKD2 | c.720G>A (p.Val240=) n.778G>A | |
2 | g.206767413G>C | CA431114999 | FASTKD2 | c.720G>C (p.Val240=) n.778G>C | |
2 | g.206767413G>T | CA431115000 | FASTKD2 | c.720G>T (p.Val240=) n.778G>T | |
2 | g.206767414A>C | CA350073299 | FASTKD2 | c.721A>C (p.Lys241Gln) n.779A>C | |
2 | g.206767414A>G | CA350073297 | FASTKD2 | c.721A>G (p.Lys241Glu) n.779A>G | |
2 | g.206767414A>T | CA350073296 | FASTKD2 | c.721A>T (p.Lys241Ter) n.779A>T | |
2 | g.206767415A>C | CA350073302 | FASTKD2 | c.722A>C (p.Lys241Thr) n.780A>C | |
2 | g.206767415A>G | CA350073303 | FASTKD2 | c.722A>G (p.Lys241Arg) n.780A>G | |
2 | g.206767415A>T | CA350073305 | FASTKD2 | c.722A>T (p.Lys241Met) n.780A>T | |
2 | g.206767416G>A | CA2074932 | FASTKD2 | c.723G>A (p.Lys241=) n.781G>A | dbSNP ExAC |
2 | g.206767416G>C | CA350073308 | FASTKD2 | c.723G>C (p.Lys241Asn) n.781G>C | |
2 | g.206767416G= | CA1323324881 | FASTKD2 | c.723G= (p.Lys241=) n.781G= | |
2 | g.206767416G>T | CA350073310 | FASTKD2 | c.723G>T (p.Lys241Asn) n.781G>T | |
2 | g.206767417C>A | CA350073317 | FASTKD2 | c.724C>A (p.Leu242Ile) n.782C>A | |
2 | g.206767417C>G | CA350073314 | FASTKD2 | c.724C>G (p.Leu242Val) n.782C>G | |
2 | g.206767417C>T | CA350073313 | FASTKD2 | c.724C>T (p.Leu242Phe) n.782C>T | |
2 | g.206767418T>A | CA350073319 | FASTKD2 | c.725T>A (p.Leu242His) n.783T>A | |
2 | g.206767418T>C | CA350073320 | FASTKD2 | c.725T>C (p.Leu242Pro) n.783T>C | |
2 | g.206767418T>G | CA350073322 | FASTKD2 | c.725T>G (p.Leu242Arg) n.783T>G | |
2 | g.206767419T>A | CA431115023 | FASTKD2 | c.726T>A (p.Leu242=) n.784T>A | |
2 | g.206767419T>C | CA431115022 | FASTKD2 | c.726T>C (p.Leu242=) n.784T>C | |
2 | g.206767419T>G | CA431115021 | FASTKD2 | c.726T>G (p.Leu242=) n.784T>G | |
2 | g.206767420G>A | CA350073324 | FASTKD2 | c.727G>A (p.Gly243Arg) n.785G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767420G>C | CA350073326 | FASTKD2 | c.727G>C (p.Gly243Arg) n.785G>C | |
2 | g.206767420G= | CA1323324882 | FASTKD2 | c.727G= (p.Gly243=) n.785G= | |
2 | g.206767420G>T | CA350073328 | FASTKD2 | c.727G>T (p.Gly243Ter) n.785G>T | |
2 | g.206767421G>A | CA350073330 | FASTKD2 | c.728G>A (p.Gly243Glu) n.786G>A | |
2 | g.206767421G>C | CA350073334 | FASTKD2 | c.728G>C (p.Gly243Ala) n.786G>C | |
2 | g.206767421G>T | CA350073332 | FASTKD2 | c.728G>T (p.Gly243Val) n.786G>T | |
2 | g.206767422A>C | CA431115032 | FASTKD2 | c.729A>C (p.Gly243=) n.787A>C | |
2 | g.206767422A>G | CA431115031 | FASTKD2 | c.729A>G (p.Gly243=) n.787A>G | |
2 | g.206767422A>T | CA431115030 | FASTKD2 | c.729A>T (p.Gly243=) n.787A>T | |
2 | g.206767423A= | CA1323324883 | FASTKD2 | c.730A= (p.Ile244=) n.788A= | |
2 | g.206767423A>C | CA350073336 | FASTKD2 | c.730A>C (p.Ile244Leu) n.788A>C | |
2 | g.206767423A>G | CA350073338 | FASTKD2 | c.730A>G (p.Ile244Val) n.788A>G | dbSNP |
2 | g.206767423A>T | CA350073340 | FASTKD2 | c.730A>T (p.Ile244Phe) n.788A>T | |
2 | g.206767424T>A | CA350073342 | FASTKD2 | c.731T>A (p.Ile244Asn) n.789T>A | |
2 | g.206767424T>C | CA350073344 | FASTKD2 | c.731T>C (p.Ile244Thr) n.789T>C | |
2 | g.206767424T>G | CA350073346 | FASTKD2 | c.731T>G (p.Ile244Ser) n.789T>G | |
2 | g.206767425C>A | CA431115043 | FASTKD2 | c.732C>A (p.Ile244=) n.790C>A | |
2 | g.206767425C= | CA1323324884 | FASTKD2 | c.732C= (p.Ile244=) n.790C= | |
2 | g.206767425C>G | CA350073348 | FASTKD2 | c.732C>G (p.Ile244Met) n.790C>G | |
2 | g.206767425C>T | CA63710329 | FASTKD2 | c.732C>T (p.Ile244=) n.790C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767426C>A | CA350073350 | FASTKD2 | c.733C>A (p.Pro245Thr) n.791C>A | |
2 | g.206767426C>G | CA350073353 | FASTKD2 | c.733C>G (p.Pro245Ala) n.791C>G | |
2 | g.206767426C>T | CA350073354 | FASTKD2 | c.733C>T (p.Pro245Ser) n.791C>T | gnomAD v4 |
2 | g.206767427C>A | CA350073359 | FASTKD2 | c.734C>A (p.Pro245His) n.792C>A | |
2 | g.206767427C= | CA1323324885 | FASTKD2 | c.734C= (p.Pro245=) n.792C= | |
2 | g.206767427C>G | CA350073357 | FASTKD2 | c.734C>G (p.Pro245Arg) n.792C>G | |
2 | g.206767427C>T | CA2074933 | FASTKD2 | c.734C>T (p.Pro245Leu) n.792C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767428T>A | CA431115055 | FASTKD2 | c.735T>A (p.Pro245=) n.793T>A | |
2 | g.206767428T>C | CA431115056 | FASTKD2 | c.735T>C (p.Pro245=) n.793T>C | |
2 | g.206767428T>G | CA431115058 | FASTKD2 | c.735T>G (p.Pro245=) n.793T>G | |
2 | g.206767429C>A | CA350073361 | FASTKD2 | c.736C>A (p.Gln246Lys) n.794C>A | |
2 | g.206767429C>G | CA350073365 | FASTKD2 | c.736C>G (p.Gln246Glu) n.794C>G | gnomAD v4 |
2 | g.206767429C>T | CA350073363 | FASTKD2 | c.736C>T (p.Gln246Ter) n.794C>T | |
2 | g.206767429dup | CA2843115636 | FASTKD2 | c.736dup (p.Gln246ProfsTer19) n.794dup | |
2 | g.206767429_206767430del | CA2577223922 | FASTKD2 | c.736_737del (p.Gln246GlufsTer18) n.794_795del | |
2 | g.206767430A>C | CA350073368 | FASTKD2 | c.737A>C (p.Gln246Pro) n.795A>C | |
2 | g.206767430A>G | CA350073371 | FASTKD2 | c.737A>G (p.Gln246Arg) n.795A>G | gnomAD v4 |
2 | g.206767430A>T | CA350073369 | FASTKD2 | c.737A>T (p.Gln246Leu) n.795A>T | |
2 | g.206767431G>A | CA431115064 | FASTKD2 | c.738G>A (p.Gln246=) n.796G>A | |
2 | g.206767431G>C | CA350073373 | FASTKD2 | c.738G>C (p.Gln246His) n.796G>C | |
2 | g.206767431G>T | CA350073375 | FASTKD2 | c.738G>T (p.Gln246His) n.796G>T | gnomAD v4 |
2 | g.206767432A>C | CA350073377 | FASTKD2 | c.739A>C (p.Asn247His) n.797A>C | |
2 | g.206767432A>G | CA350073379 | FASTKD2 | c.739A>G (p.Asn247Asp) n.797A>G | |
2 | g.206767432A>T | CA350073380 | FASTKD2 | c.739A>T (p.Asn247Tyr) n.797A>T | |
2 | g.206767433A>C | CA350073382 | FASTKD2 | c.740A>C (p.Asn247Thr) n.798A>C | |
2 | g.206767433A>G | CA350073384 | FASTKD2 | c.740A>G (p.Asn247Ser) n.798A>G | |
2 | g.206767433A>T | CA350073386 | FASTKD2 | c.740A>T (p.Asn247Ile) n.798A>T | |
2 | g.206767434C>A | CA350073387 | FASTKD2 | c.741C>A (p.Asn247Lys) n.799C>A | |
2 | g.206767434C>G | CA350073390 | FASTKD2 | c.741C>G (p.Asn247Lys) n.799C>G | |
2 | g.206767434C>T | CA431115071 | FASTKD2 | c.741C>T (p.Asn247=) n.799C>T | |
2 | g.206767435A= | CA1323324886 | FASTKD2 | c.742A= (p.Thr248=) n.800A= | |
2 | g.206767435A>C | CA350073392 | FASTKD2 | c.742A>C (p.Thr248Pro) n.800A>C | |
2 | g.206767435A>G | CA350073394 | FASTKD2 | c.742A>G (p.Thr248Ala) n.800A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767435A>T | CA350073396 | FASTKD2 | c.742A>T (p.Thr248Ser) n.800A>T | |
2 | g.206767436C>A | CA2074935 | FASTKD2 | c.743C>A (p.Thr248Asn) n.801C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767436C= | CA1323324887 | FASTKD2 | c.743C= (p.Thr248=) n.801C= | |
2 | g.206767436C>G | CA350073398 | FASTKD2 | c.743C>G (p.Thr248Ser) n.801C>G | |
2 | g.206767436C>T | CA2074934 | FASTKD2 | c.743C>T (p.Thr248Ile) n.801C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767437T>A | CA431115086 | FASTKD2 | c.744T>A (p.Thr248=) n.802T>A | dbSNP |
2 | g.206767437T>C | CA431115087 | FASTKD2 | c.744T>C (p.Thr248=) n.802T>C | |
2 | g.206767437T>G | CA431115088 | FASTKD2 | c.744T>G (p.Thr248=) n.802T>G | gnomAD v4 |
2 | g.206767437T= | CA1323324888 | FASTKD2 | c.744T= (p.Thr248=) n.802T= | |
2 | g.206767438A>C | CA350073403 | FASTKD2 | c.745A>C (p.Ile249Leu) n.803A>C | ClinVar |
2 | g.206767438A>G | CA350073406 | FASTKD2 | c.745A>G (p.Ile249Val) n.803A>G | gnomAD v4 |
2 | g.206767438A>T | CA350073407 | FASTKD2 | c.745A>T (p.Ile249Phe) n.803A>T | |
2 | g.206767439T>A | CA350073410 | FASTKD2 | c.746T>A (p.Ile249Asn) n.804T>A | |
2 | g.206767439T>C | CA350073411 | FASTKD2 | c.746T>C (p.Ile249Thr) n.804T>C | dbSNP |
2 | g.206767439T>G | CA350073412 | FASTKD2 | c.746T>G (p.Ile249Ser) n.804T>G | |
2 | g.206767439T= | CA1323324889 | FASTKD2 | c.746T= (p.Ile249=) n.804T= | |
2 | g.206767442del | CA2662829159 | FASTKD2 | c.749del (p.Leu250TrpfsTer6) n.807del | gnomAD v4 |
2 | g.206767440T>A | CA431115096 | FASTKD2 | c.747T>A (p.Ile249=) n.805T>A | |
2 | g.206767440T>C | CA431115100 | FASTKD2 | c.747T>C (p.Ile249=) n.805T>C | dbSNP gnomAD v4 |
2 | g.206767440T>G | CA350073414 | FASTKD2 | c.747T>G (p.Ile249Met) n.805T>G | |
2 | g.206767440T= | CA1323324890 | FASTKD2 | c.747T= (p.Ile249=) n.805T= | |
2 | g.206767441T>A | CA350073417 | FASTKD2 | c.748T>A (p.Leu250Met) n.806T>A | |
2 | g.206767441T>C | CA2074936 | FASTKD2 | c.748T>C (p.Leu250=) n.806T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767441T>G | CA63710357 | FASTKD2 | c.748T>G (p.Leu250Val) n.806T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767441T= | CA1323324891 | FASTKD2 | c.748T= (p.Leu250=) n.806T= | |
2 | g.206767442T>A | CA350073423 | FASTKD2 | c.749T>A (p.Leu250Ter) n.807T>A | |
2 | g.206767442T>C | CA350073425 | FASTKD2 | c.749T>C (p.Leu250Ser) n.807T>C | |
2 | g.206767442T>G | CA350073421 | FASTKD2 | c.749T>G (p.Leu250Trp) n.807T>G | |
2 | g.206767443G>A | CA2074937 | FASTKD2 | c.750G>A (p.Leu250=) n.808G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767443G>C | CA350073429 | FASTKD2 | c.750G>C (p.Leu250Phe) n.808G>C | gnomAD v4 |
2 | g.206767443G= | CA1323324892 | FASTKD2 | c.750G= (p.Leu250=) n.808G= | |
2 | g.206767443G>T | CA350073431 | FASTKD2 | c.750G>T (p.Leu250Phe) n.808G>T | gnomAD v4 |
2 | g.206767444G>A | CA2074938 | FASTKD2 | c.751G>A (p.Val251Met) n.809G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767444G>C | CA350073434 | FASTKD2 | c.751G>C (p.Val251Leu) n.809G>C | |
2 | g.206767444G= | CA1323324893 | FASTKD2 | c.751G= (p.Val251=) n.809G= | |
2 | g.206767444G>T | CA350073436 | FASTKD2 | c.751G>T (p.Val251Leu) n.809G>T | |
2 | g.206767445T>A | CA350073439 | FASTKD2 | c.752T>A (p.Val251Glu) n.810T>A | |
2 | g.206767445T>C | CA350073442 | FASTKD2 | c.752T>C (p.Val251Ala) n.810T>C | |
2 | g.206767445T>G | CA350073440 | FASTKD2 | c.752T>G (p.Val251Gly) n.810T>G | |
2 | g.206767446G>A | CA2074939 | FASTKD2 | c.753G>A (p.Val251=) n.811G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767446G>C | CA431115118 | FASTKD2 | c.753G>C (p.Val251=) n.811G>C | |
2 | g.206767446G= | CA1323324894 | FASTKD2 | c.753G= (p.Val251=) n.811G= | |
2 | g.206767446G>T | CA431115115 | FASTKD2 | c.753G>T (p.Val251=) n.811G>T | gnomAD v4 |
2 | g.206767447C>A | CA350073445 | FASTKD2 | c.754C>A (p.Gln252Lys) n.812C>A | |
2 | g.206767447C= | CA1323324895 | FASTKD2 | c.754C= (p.Gln252=) n.812C= | |
2 | g.206767447C>G | CA350073447 | FASTKD2 | c.754C>G (p.Gln252Glu) n.812C>G | |
2 | g.206767447C>T | CA350073449 | FASTKD2 | c.754C>T (p.Gln252Ter) n.812C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767448A= | CA1323324896 | FASTKD2 | c.755A= (p.Gln252=) n.813A= | |
2 | g.206767448A>C | CA350073452 | FASTKD2 | c.755A>C (p.Gln252Pro) n.813A>C | |
2 | g.206767448A>G | CA350073455 | FASTKD2 | c.755A>G (p.Gln252Arg) n.813A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767448A>T | CA350073453 | FASTKD2 | c.755A>T (p.Gln252Leu) n.813A>T | |
2 | g.206767449G>A | CA2074940 | FASTKD2 | c.756G>A (p.Gln252=) n.814G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767449G>C | CA350073458 | FASTKD2 | c.756G>C (p.Gln252His) n.814G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767449G= | CA1323324897 | FASTKD2 | c.756G= (p.Gln252=) n.814G= | |
2 | g.206767449G>T | CA350073460 | FASTKD2 | c.756G>T (p.Gln252His) n.814G>T | gnomAD v4 |
2 | g.206767450A>C | CA350073462 | FASTKD2 | c.757A>C (p.Thr253Pro) n.815A>C | |
2 | g.206767450A>G | CA350073464 | FASTKD2 | c.757A>G (p.Thr253Ala) n.815A>G | gnomAD v4 |
2 | g.206767450A>T | CA350073465 | FASTKD2 | c.757A>T (p.Thr253Ser) n.815A>T | |
2 | g.206767451C>A | CA350073468 | FASTKD2 | c.758C>A (p.Thr253Asn) n.816C>A | |
2 | g.206767451C= | CA1323324898 | FASTKD2 | c.758C= (p.Thr253=) n.816C= | |
2 | g.206767451C>G | CA350073470 | FASTKD2 | c.758C>G (p.Thr253Ser) n.816C>G | |
2 | g.206767451C>T | CA63710406 | FASTKD2 | c.758C>T (p.Thr253Ile) n.816C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767452T>A | CA431115134 | FASTKD2 | c.759T>A (p.Thr253=) n.817T>A | gnomAD v4 |
2 | g.206767452T>C | CA431115136 | FASTKD2 | c.759T>C (p.Thr253=) n.817T>C | |
2 | g.206767452T>G | CA431115135 | FASTKD2 | c.759T>G (p.Thr253=) n.817T>G | |
2 | g.206767454del | CA2839365654 | FASTKD2 | c.761del (p.Leu254CysfsTer2) n.819del | |
2 | g.206767453T>A | CA350073473 | FASTKD2 | c.760T>A (p.Leu254Met) n.818T>A | |
2 | g.206767453T>C | CA431115144 | FASTKD2 | c.760T>C (p.Leu254=) n.818T>C | |
2 | g.206767453T>G | CA350073475 | FASTKD2 | c.760T>G (p.Leu254Val) n.818T>G | |
2 | g.206767454T>A | CA350073479 | FASTKD2 | c.761T>A (p.Leu254Ter) n.819T>A | |
2 | g.206767454T>C | CA350073481 | FASTKD2 | c.761T>C (p.Leu254Ser) n.819T>C | |
2 | g.206767454T>G | CA350073477 | FASTKD2 | c.761T>G (p.Leu254Trp) n.819T>G | gnomAD v4 |
2 | g.206767455G>A | CA431115150 | FASTKD2 | c.762G>A (p.Leu254=) n.820G>A | |
2 | g.206767455G>C | CA350073484 | FASTKD2 | c.762G>C (p.Leu254Phe) n.820G>C | |
2 | g.206767455G>T | CA350073486 | FASTKD2 | c.762G>T (p.Leu254Phe) n.820G>T | COSMIC |
2 | g.206767456C>A | CA350073488 | FASTKD2 | c.763C>A (p.Leu255Met) n.821C>A | gnomAD v4 |
2 | g.206767456C>G | CA350073490 | FASTKD2 | c.763C>G (p.Leu255Val) n.821C>G | |
2 | g.206767456C>T | CA431115156 | FASTKD2 | c.763C>T (p.Leu255=) n.821C>T | |
2 | g.206767456dup | CA2843115637 | FASTKD2 | c.763dup (p.Leu255ProfsTer10) n.821dup | |
2 | g.206767457T>A | CA350073492 | FASTKD2 | c.764T>A (p.Leu255Gln) n.822T>A | |
2 | g.206767457T>C | CA350073493 | FASTKD2 | c.764T>C (p.Leu255Pro) n.822T>C | ClinVar dbSNP gnomAD v4 |
2 | g.206767457T>G | CA350073495 | FASTKD2 | c.764T>G (p.Leu255Arg) n.822T>G | |
2 | g.206767457T= | CA1323324899 | FASTKD2 | c.764T= (p.Leu255=) n.822T= | |
2 | g.206767458G>A | CA431115165 | FASTKD2 | c.765G>A (p.Leu255=) n.823G>A | |
2 | g.206767458G>C | CA431115172 | FASTKD2 | c.765G>C (p.Leu255=) n.823G>C | |
2 | g.206767458G>T | CA431115167 | FASTKD2 | c.765G>T (p.Leu255=) n.823G>T | |
2 | g.206767459A= | CA1323324900 | FASTKD2 | c.766A= (p.Arg256=) n.824A= | |
2 | g.206767459A>C | CA431115173 | FASTKD2 | c.766A>C (p.Arg256=) n.824A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767459A>G | CA350073498 | FASTKD2 | c.766A>G (p.Arg256Gly) n.824A>G | |
2 | g.206767459A>T | CA350073499 | FASTKD2 | c.766A>T (p.Arg256Trp) n.824A>T | |
2 | g.206767460G>A | CA350073502 | FASTKD2 | c.767G>A (p.Arg256Lys) n.825G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767460G>C | CA350073503 | FASTKD2 | c.767G>C (p.Arg256Thr) n.825G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767460G= | CA1323324901 | FASTKD2 | c.767G= (p.Arg256=) n.825G= | |
2 | g.206767460G>T | CA350073505 | FASTKD2 | c.767G>T (p.Arg256Met) n.825G>T | |
2 | g.206767461G>A | CA431115185 | FASTKD2 | c.768G>A (p.Arg256=) n.826G>A | gnomAD v4 |
2 | g.206767461G>C | CA350073508 | FASTKD2 | c.768G>C (p.Arg256Ser) n.826G>C | |
2 | g.206767461G= | CA1323324902 | FASTKD2 | c.768G= (p.Arg256=) n.826G= | |
2 | g.206767461G>T | CA2074941 | FASTKD2 | c.768G>T (p.Arg256Ser) n.826G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767462G>A | CA350073515 | FASTKD2 | c.769G>A (p.Val257Met) n.827G>A | dbSNP |
2 | g.206767462G>C | CA350073511 | FASTKD2 | c.769G>C (p.Val257Leu) n.827G>C | |
2 | g.206767462G= | CA1323324903 | FASTKD2 | c.769G= (p.Val257=) n.827G= | |
2 | g.206767462G>T | CA350073513 | FASTKD2 | c.769G>T (p.Val257Leu) n.827G>T | |
2 | g.206767463T>A | CA350073517 | FASTKD2 | c.770T>A (p.Val257Glu) n.828T>A | |
2 | g.206767463T>C | CA350073519 | FASTKD2 | c.770T>C (p.Val257Ala) n.828T>C | |
2 | g.206767463T>G | CA350073520 | FASTKD2 | c.770T>G (p.Val257Gly) n.828T>G | |
2 | g.206767464G>A | CA2074942 | FASTKD2 | c.771G>A (p.Val257=) n.829G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767464G>C | CA431115199 | FASTKD2 | c.771G>C (p.Val257=) n.829G>C | |
2 | g.206767464G= | CA1323324904 | FASTKD2 | c.771G= (p.Val257=) n.829G= | |
2 | g.206767464G>T | CA431115203 | FASTKD2 | c.771G>T (p.Val257=) n.829G>T | gnomAD v4 |
2 | g.206767465A>C | CA350073524 | FASTKD2 | c.772A>C (p.Thr258Pro) n.830A>C | |
2 | g.206767465A>G | CA350073526 | FASTKD2 | c.772A>G (p.Thr258Ala) n.830A>G | |
2 | g.206767465A>T | CA350073528 | FASTKD2 | c.772A>T (p.Thr258Ser) n.830A>T | |
2 | g.206767466C>A | CA350073530 | FASTKD2 | c.773C>A (p.Thr258Asn) n.831C>A | |
2 | g.206767466C>G | CA350073531 | FASTKD2 | c.773C>G (p.Thr258Ser) n.831C>G | |
2 | g.206767466C>T | CA350073534 | FASTKD2 | c.773C>T (p.Thr258Ile) n.831C>T | |
2 | g.206767467C>A | CA431115218 | FASTKD2 | c.774C>A (p.Thr258=) n.832C>A | |
2 | g.206767467C>G | CA431115214 | FASTKD2 | c.774C>G (p.Thr258=) n.832C>G | |
2 | g.206767467C>T | CA431115215 | FASTKD2 | c.774C>T (p.Thr258=) n.832C>T | gnomAD v4 |
2 | g.206767468C>A | CA350073536 | FASTKD2 | c.775C>A (p.Gln259Lys) n.833C>A | |
2 | g.206767468C>G | CA350073538 | FASTKD2 | c.775C>G (p.Gln259Glu) n.833C>G | |
2 | g.206767468C>T | CA350073540 | FASTKD2 | c.775C>T (p.Gln259Ter) n.833C>T | |
2 | g.206767469A>C | CA350073543 | FASTKD2 | c.776A>C (p.Gln259Pro) n.834A>C | |
2 | g.206767469A>G | CA350073546 | FASTKD2 | c.776A>G (p.Gln259Arg) n.834A>G | |
2 | g.206767469A>T | CA350073545 | FASTKD2 | c.776A>T (p.Gln259Leu) n.834A>T | |
2 | g.206767470G>A | CA431115229 | FASTKD2 | c.777G>A (p.Gln259=) n.835G>A | |
2 | g.206767470G>C | CA350073548 | FASTKD2 | c.777G>C (p.Gln259His) n.835G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767470G= | CA1323324905 | FASTKD2 | c.777G= (p.Gln259=) n.835G= | |
2 | g.206767470G>T | CA350073550 | FASTKD2 | c.777G>T (p.Gln259His) n.835G>T | gnomAD v4 |
2 | g.206767471dup | CA2838481548 | FASTKD2 | c.777+1dup n.835+1dup | |
2 | g.206767471G>A | CA2074943 | FASTKD2 | c.777+1G>A (n.777+1G>A) n.835+1G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767471G>C | CA350073552 | FASTKD2 | c.777+1G>C (n.777+1G>C) n.835+1G>C | |
2 | g.206767471G= | CA1323324906 | FASTKD2 | c.777+1G= (n.777+1G=) n.835+1G= | |
2 | g.206767471G>T | CA350073554 | FASTKD2 | c.777+1G>T (n.777+1G>T) n.835+1G>T | gnomAD v4 |
2 | g.206767471_206767476delinsGTAAAA | CA1323324907 | FASTKD2 | c.777+1_777+6delinsGTAAAA (n.777+1_777+6delinsGTAAAA) n.835+1_835+6delinsGTAAAA | |
2 | g.206767472T>A | CA350073555 | FASTKD2 | c.777+2T>A (n.777+2T>A) n.835+2T>A | |
2 | g.206767472T>C | CA350073557 | FASTKD2 | c.777+2T>C (n.777+2T>C) n.835+2T>C | |
2 | g.206767472T>G | CA350073559 | FASTKD2 | c.777+2T>G (n.777+2T>G) n.835+2T>G | |
2 | g.206767477_206767481del | CA763821680 | FASTKD2 | c.777+7_777+11del (n.777+7_777+11del) n.835+7_835+11del | dbSNP |
2 | g.206767473A= | CA1323324908 | FASTKD2 | c.777+3A= (n.777+3A=) n.835+3A= | |
2 | g.206767473A>G | CA2074944 | FASTKD2 | c.777+3A>G (n.777+3A>G) n.835+3A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767476del | CA2843115638 | FASTKD2 | c.777+6del (n.777+6del) n.835+6del | |
2 | g.206767476A= | CA1323324909 | FASTKD2 | c.777+6A= (n.777+6A=) n.835+6A= | |
2 | g.206767476A>G | CA2074945 | FASTKD2 | c.777+6A>G (n.777+6A>G) n.835+6A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767477T>G | CA763821685 | FASTKD2 | c.777+7T>G (n.777+7T>G) n.835+7T>G | dbSNP |
2 | g.206767477T= | CA1323324910 | FASTKD2 | c.777+7T= (n.777+7T=) n.835+7T= | |
2 | g.206767477dup | CA2074946 | FASTKD2 | c.777+7dup (n.777+7dup) n.835+7dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |