Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.206767132A= | CA1323320481 | FASTKD2 | c.439A= (p.Lys147=) n.497A= | |
2 | g.206767132A>C | CA350070899 | FASTKD2 | c.439A>C (p.Lys147Gln) n.497A>C | |
2 | g.206767132A>G | CA350070902 | FASTKD2 | c.439A>G (p.Lys147Glu) n.497A>G | dbSNP gnomAD v4 |
2 | g.206767132A>T | CA350070904 | FASTKD2 | c.439A>T (p.Lys147Ter) n.497A>T | |
2 | g.206767133A>C | CA350070909 | FASTKD2 | c.440A>C (p.Lys147Thr) n.498A>C | |
2 | g.206767133A>G | CA350070921 | FASTKD2 | c.440A>G (p.Lys147Arg) n.498A>G | |
2 | g.206767133A>T | CA350070928 | FASTKD2 | c.440A>T (p.Lys147Met) n.498A>T | |
2 | g.206767134G>A | CA431115223 | FASTKD2 | c.441G>A (p.Lys147=) n.499G>A | |
2 | g.206767134G>C | CA350070932 | FASTKD2 | c.441G>C (p.Lys147Asn) n.499G>C | |
2 | g.206767134G>T | CA350070930 | FASTKD2 | c.441G>T (p.Lys147Asn) n.499G>T | gnomAD v4 |
2 | g.206767135G>A | CA350070935 | FASTKD2 | c.442G>A (p.Glu148Lys) n.500G>A | |
2 | g.206767135G>C | CA350070938 | FASTKD2 | c.442G>C (p.Glu148Gln) n.500G>C | |
2 | g.206767135G>T | CA350070941 | FASTKD2 | c.442G>T (p.Glu148Ter) n.500G>T | |
2 | g.206767136A>C | CA350070944 | FASTKD2 | c.443A>C (p.Glu148Ala) n.501A>C | |
2 | g.206767136A>G | CA350070947 | FASTKD2 | c.443A>G (p.Glu148Gly) n.501A>G | |
2 | g.206767136A>T | CA350070949 | FASTKD2 | c.443A>T (p.Glu148Val) n.501A>T | |
2 | g.206767138del | CA2577223892 | FASTKD2 | c.445del (p.Thr149GlnfsTer18) n.503del | |
2 | g.206767137A= | CA1323320482 | FASTKD2 | c.444A= (p.Glu148=) n.502A= | |
2 | g.206767137A>C | CA63709966 | FASTKD2 | c.444A>C (p.Glu148Asp) n.502A>C | dbSNP |
2 | g.206767137A>G | CA431115231 | FASTKD2 | c.444A>G (p.Glu148=) n.502A>G | |
2 | g.206767137A>T | CA350070954 | FASTKD2 | c.444A>T (p.Glu148Asp) n.502A>T | |
2 | g.206767138A= | CA1323320483 | FASTKD2 | c.445A= (p.Thr149=) n.503A= | |
2 | g.206767138A>C | CA350070961 | FASTKD2 | c.445A>C (p.Thr149Pro) n.503A>C | |
2 | g.206767138A>G | CA350070967 | FASTKD2 | c.445A>G (p.Thr149Ala) n.503A>G | |
2 | g.206767138A>T | CA350070964 | FASTKD2 | c.445A>T (p.Thr149Ser) n.503A>T | dbSNP |
2 | g.206767139C>A | CA350070969 | FASTKD2 | c.446C>A (p.Thr149Lys) n.504C>A | |
2 | g.206767139C>G | CA350070974 | FASTKD2 | c.446C>G (p.Thr149Arg) n.504C>G | |
2 | g.206767139C>T | CA350070976 | FASTKD2 | c.446C>T (p.Thr149Ile) n.504C>T | |
2 | g.206767140A= | CA1323320484 | FASTKD2 | c.447A= (p.Thr149=) n.505A= | |
2 | g.206767140A>C | CA431115241 | FASTKD2 | c.447A>C (p.Thr149=) n.505A>C | dbSNP |
2 | g.206767140A>G | CA2074882 | FASTKD2 | c.447A>G (p.Thr149=) n.505A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767140A>T | CA431115242 | FASTKD2 | c.447A>T (p.Thr149=) n.505A>T | |
2 | g.206767141A>C | CA350070988 | FASTKD2 | c.448A>C (p.Lys150Gln) n.506A>C | |
2 | g.206767141A>G | CA350070993 | FASTKD2 | c.448A>G (p.Lys150Glu) n.506A>G | |
2 | g.206767141A>T | CA350070991 | FASTKD2 | c.448A>T (p.Lys150Ter) n.506A>T | |
2 | g.206767142A>C | CA350071000 | FASTKD2 | c.449A>C (p.Lys150Thr) n.507A>C | |
2 | g.206767142A>G | CA350071003 | FASTKD2 | c.449A>G (p.Lys150Arg) n.507A>G | gnomAD v4 |
2 | g.206767142A>T | CA350071007 | FASTKD2 | c.449A>T (p.Lys150Ile) n.507A>T | |
2 | g.206767143A>C | CA350071011 | FASTKD2 | c.450A>C (p.Lys150Asn) n.508A>C | |
2 | g.206767143A>G | CA431115246 | FASTKD2 | c.450A>G (p.Lys150=) n.508A>G | |
2 | g.206767143A>T | CA350071015 | FASTKD2 | c.450A>T (p.Lys150Asn) n.508A>T | |
2 | g.206767144C>A | CA350071016 | FASTKD2 | c.451C>A (p.Pro151Thr) n.509C>A | |
2 | g.206767144C>G | CA350071017 | FASTKD2 | c.451C>G (p.Pro151Ala) n.509C>G | gnomAD v4 |
2 | g.206767144C>T | CA350071018 | FASTKD2 | c.451C>T (p.Pro151Ser) n.509C>T | |
2 | g.206767145C>A | CA350071020 | FASTKD2 | c.452C>A (p.Pro151Gln) n.510C>A | |
2 | g.206767145C= | CA1323320485 | FASTKD2 | c.452C= (p.Pro151=) n.510C= | |
2 | g.206767145C>G | CA350071021 | FASTKD2 | c.452C>G (p.Pro151Arg) n.510C>G | |
2 | g.206767145C>T | CA350071024 | FASTKD2 | c.452C>T (p.Pro151Leu) n.510C>T | ClinVar dbSNP gnomAD v4 |
2 | g.206767146A>C | CA431115254 | FASTKD2 | c.453A>C (p.Pro151=) n.511A>C | |
2 | g.206767146A>G | CA431115252 | FASTKD2 | c.453A>G (p.Pro151=) n.511A>G | |
2 | g.206767146A>T | CA431115253 | FASTKD2 | c.453A>T (p.Pro151=) n.511A>T | |
2 | g.206767147A>C | CA350071030 | FASTKD2 | c.454A>C (p.Asn152His) n.512A>C | |
2 | g.206767147A>G | CA350071032 | FASTKD2 | c.454A>G (p.Asn152Asp) n.512A>G | |
2 | g.206767147A>T | CA350071031 | FASTKD2 | c.454A>T (p.Asn152Tyr) n.512A>T | |
2 | g.206767148A>C | CA350071033 | FASTKD2 | c.455A>C (p.Asn152Thr) n.513A>C | |
2 | g.206767148A>G | CA350071037 | FASTKD2 | c.455A>G (p.Asn152Ser) n.513A>G | |
2 | g.206767148A>T | CA350071034 | FASTKD2 | c.455A>T (p.Asn152Ile) n.513A>T | |
2 | g.206767148_206767150del | CA2662829149 | FASTKD2 | c.455_457del (p.Asn152_Arg153delinsSer) n.513_515del | gnomAD v4 |
2 | g.206767149C>A | CA350071040 | FASTKD2 | c.456C>A (p.Asn152Lys) n.514C>A | |
2 | g.206767149C= | CA1323320486 | FASTKD2 | c.456C= (p.Asn152=) n.514C= | |
2 | g.206767149C>G | CA350071042 | FASTKD2 | c.456C>G (p.Asn152Lys) n.514C>G | dbSNP |
2 | g.206767149C>T | CA63709972 | FASTKD2 | c.456C>T (p.Asn152=) n.514C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767150C>A | CA350071046 | FASTKD2 | c.457C>A (p.Arg153Ser) n.515C>A | |
2 | g.206767150C= | CA1323320487 | FASTKD2 | c.457C= (p.Arg153=) n.515C= | |
2 | g.206767150C>G | CA350071048 | FASTKD2 | c.457C>G (p.Arg153Gly) n.515C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767150C>T | CA2074883 | FASTKD2 | c.457C>T (p.Arg153Cys) n.515C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767151G>A | CA2074884 | FASTKD2 | c.458G>A (p.Arg153His) n.516G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767151G>C | CA350071059 | FASTKD2 | c.458G>C (p.Arg153Pro) n.516G>C | |
2 | g.206767151G= | CA1323320488 | FASTKD2 | c.458G= (p.Arg153=) n.516G= | |
2 | g.206767151G>T | CA350071060 | FASTKD2 | c.458G>T (p.Arg153Leu) n.516G>T | gnomAD v4 |
2 | g.206767152T>A | CA431115266 | FASTKD2 | c.459T>A (p.Arg153=) n.517T>A | |
2 | g.206767152T>C | CA431115264 | FASTKD2 | c.459T>C (p.Arg153=) n.517T>C | |
2 | g.206767152T>G | CA431115268 | FASTKD2 | c.459T>G (p.Arg153=) n.517T>G | |
2 | g.206767153A>C | CA350071063 | FASTKD2 | c.460A>C (p.Ile154Leu) n.518A>C | |
2 | g.206767153A>G | CA350071066 | FASTKD2 | c.460A>G (p.Ile154Val) n.518A>G | |
2 | g.206767153A>T | CA350071068 | FASTKD2 | c.460A>T (p.Ile154Phe) n.518A>T | gnomAD v4 |
2 | g.206767154T>A | CA350071073 | FASTKD2 | c.461T>A (p.Ile154Asn) n.519T>A | |
2 | g.206767154T>C | CA2074885 | FASTKD2 | c.461T>C (p.Ile154Thr) n.519T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767154T>G | CA350071075 | FASTKD2 | c.461T>G (p.Ile154Ser) n.519T>G | |
2 | g.206767154T= | CA1323320489 | FASTKD2 | c.461T= (p.Ile154=) n.519T= | |
2 | g.206767155C>A | CA431115274 | FASTKD2 | c.462C>A (p.Ile154=) n.520C>A | |
2 | g.206767155C>G | CA350071080 | FASTKD2 | c.462C>G (p.Ile154Met) n.520C>G | |
2 | g.206767155C>T | CA431115280 | FASTKD2 | c.462C>T (p.Ile154=) n.520C>T | |
2 | g.206767156del | CA2662829150 | FASTKD2 | c.463del (p.Ser155AlafsTer12) n.521del | gnomAD v4 |
2 | g.206767156A= | CA1323320490 | FASTKD2 | c.463A= (p.Ser155=) n.521A= | |
2 | g.206767156A>C | CA350071083 | FASTKD2 | c.463A>C (p.Ser155Arg) n.521A>C | |
2 | g.206767156A>G | CA350071087 | FASTKD2 | c.463A>G (p.Ser155Gly) n.521A>G | |
2 | g.206767156A>T | CA63709981 | FASTKD2 | c.463A>T (p.Ser155Cys) n.521A>T | dbSNP gnomAD v4 |
2 | g.206767157G>A | CA350071095 | FASTKD2 | c.464G>A (p.Ser155Asn) n.522G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767157G>C | CA350071101 | FASTKD2 | c.464G>C (p.Ser155Thr) n.522G>C | |
2 | g.206767157G= | CA1323320491 | FASTKD2 | c.464G= (p.Ser155=) n.522G= | |
2 | g.206767157G>T | CA350071107 | FASTKD2 | c.464G>T (p.Ser155Ile) n.522G>T | |
2 | g.206767158C>A | CA350071110 | FASTKD2 | c.465C>A (p.Ser155Arg) n.523C>A | |
2 | g.206767158C>G | CA350071111 | FASTKD2 | c.465C>G (p.Ser155Arg) n.523C>G | |
2 | g.206767158C>T | CA431115292 | FASTKD2 | c.465C>T (p.Ser155=) n.523C>T | |
2 | g.206767159A>C | CA350071117 | FASTKD2 | c.466A>C (p.Ser156Arg) n.524A>C | |
2 | g.206767159A>G | CA350071119 | FASTKD2 | c.466A>G (p.Ser156Gly) n.524A>G | |
2 | g.206767159A>T | CA350071115 | FASTKD2 | c.466A>T (p.Ser156Cys) n.524A>T | |
2 | g.206767160G>A | CA350071122 | FASTKD2 | c.467G>A (p.Ser156Asn) n.525G>A | |
2 | g.206767160G>C | CA350071126 | FASTKD2 | c.467G>C (p.Ser156Thr) n.525G>C | |
2 | g.206767160G>T | CA350071128 | FASTKD2 | c.467G>T (p.Ser156Ile) n.525G>T | |
2 | g.206767161T>A | CA350071132 | FASTKD2 | c.468T>A (p.Ser156Arg) n.526T>A | |
2 | g.206767161T>C | CA431115299 | FASTKD2 | c.468T>C (p.Ser156=) n.526T>C | dbSNP |
2 | g.206767161T>G | CA350071138 | FASTKD2 | c.468T>G (p.Ser156Arg) n.526T>G | |
2 | g.206767161T= | CA1323320492 | FASTKD2 | c.468T= (p.Ser156=) n.526T= | |
2 | g.206767162A= | CA1323320493 | FASTKD2 | c.469A= (p.Arg157=) n.527A= | |
2 | g.206767162A>C | CA431115300 | FASTKD2 | c.469A>C (p.Arg157=) n.527A>C | |
2 | g.206767162A>G | CA350071142 | FASTKD2 | c.469A>G (p.Arg157Gly) n.527A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767162A>T | CA350071147 | FASTKD2 | c.469A>T (p.Arg157Ter) n.527A>T | |
2 | g.206767163G>A | CA350071151 | FASTKD2 | c.470G>A (p.Arg157Lys) n.528G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767163G>C | CA350071154 | FASTKD2 | c.470G>C (p.Arg157Thr) n.528G>C | |
2 | g.206767163G= | CA1323320494 | FASTKD2 | c.470G= (p.Arg157=) n.528G= | |
2 | g.206767163G>T | CA350071157 | FASTKD2 | c.470G>T (p.Arg157Ile) n.528G>T | |
2 | g.206767164A>C | CA350071161 | FASTKD2 | c.471A>C (p.Arg157Ser) n.529A>C | |
2 | g.206767164A>G | CA431115309 | FASTKD2 | c.471A>G (p.Arg157=) n.529A>G | |
2 | g.206767164A>T | CA350071167 | FASTKD2 | c.471A>T (p.Arg157Ser) n.529A>T | |
2 | g.206767165A>C | CA350071181 | FASTKD2 | c.472A>C (p.Lys158Gln) n.530A>C | |
2 | g.206767165A>G | CA350071174 | FASTKD2 | c.472A>G (p.Lys158Glu) n.530A>G | |
2 | g.206767165A>T | CA350071177 | FASTKD2 | c.472A>T (p.Lys158Ter) n.530A>T | |
2 | g.206767166A>C | CA350071184 | FASTKD2 | c.473A>C (p.Lys158Thr) n.531A>C | gnomAD v4 |
2 | g.206767166A>G | CA350071187 | FASTKD2 | c.473A>G (p.Lys158Arg) n.531A>G | |
2 | g.206767166A>T | CA350071193 | FASTKD2 | c.473A>T (p.Lys158Ile) n.531A>T | |
2 | g.206767167A>C | CA350071199 | FASTKD2 | c.474A>C (p.Lys158Asn) n.532A>C | |
2 | g.206767167A>G | CA431115318 | FASTKD2 | c.474A>G (p.Lys158=) n.532A>G | |
2 | g.206767167A>T | CA350071202 | FASTKD2 | c.474A>T (p.Lys158Asn) n.532A>T | |
2 | g.206767167_206767171delinsACTGT | CA1323320495 | FASTKD2 | c.474_478delinsACTGT (p.Lys158=) n.532_536delinsACTGT | |
2 | g.206767168C>A | CA350071208 | FASTKD2 | c.475C>A (p.Leu159Met) n.533C>A | |
2 | g.206767168C= | CA1323320496 | FASTKD2 | c.475C= (p.Leu159=) n.533C= | |
2 | g.206767168C>G | CA350071211 | FASTKD2 | c.475C>G (p.Leu159Val) n.533C>G | gnomAD v4 |
2 | g.206767168C>T | CA431115319 | FASTKD2 | c.475C>T (p.Leu159=) n.533C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767171_206767174del | CA16617418 | FASTKD2 | c.478_481del (p.Ser160ArgfsTer6) n.536_539del | ClinVar dbSNP |
2 | g.206767169T>A | CA350071220 | FASTKD2 | c.476T>A (p.Leu159Gln) n.534T>A | |
2 | g.206767169T>C | CA350071222 | FASTKD2 | c.476T>C (p.Leu159Pro) n.534T>C | |
2 | g.206767169T>G | CA350071225 | FASTKD2 | c.476T>G (p.Leu159Arg) n.534T>G | |
2 | g.206767170G>A | CA431115323 | FASTKD2 | c.477G>A (p.Leu159=) n.535G>A | |
2 | g.206767170G>C | CA431115326 | FASTKD2 | c.477G>C (p.Leu159=) n.535G>C | |
2 | g.206767170G>T | CA431115328 | FASTKD2 | c.477G>T (p.Leu159=) n.535G>T | |
2 | g.206767171T>A | CA350071229 | FASTKD2 | c.478T>A (p.Ser160Thr) n.536T>A | |
2 | g.206767171T>C | CA350071233 | FASTKD2 | c.478T>C (p.Ser160Pro) n.536T>C | |
2 | g.206767171T>G | CA350071234 | FASTKD2 | c.478T>G (p.Ser160Ala) n.536T>G | |
2 | g.206767171_206767188delinsTCTGAGGAATGTAATTCC | CA1323320497 | FASTKD2 | c.478_495delinsTCTGAGGAATGTAATTCC (p.Ser160=) n.536_553delinsTCTGAGGAATGTAATTCC | |
2 | g.206767172C>A | CA350071247 | FASTKD2 | c.479C>A (p.Ser160Tyr) n.537C>A | |
2 | g.206767172C= | CA1323320498 | FASTKD2 | c.479C= (p.Ser160=) n.537C= | |
2 | g.206767172C>G | CA350071243 | FASTKD2 | c.479C>G (p.Ser160Cys) n.537C>G | COSMIC |
2 | g.206767172C>T | CA350071238 | FASTKD2 | c.479C>T (p.Ser160Phe) n.537C>T | gnomAD v4 |
2 | g.206767177_206767193del | CA1041644731 | FASTKD2 | c.484_500del (p.Glu162Ter) n.542_558del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767173T>A | CA431115341 | FASTKD2 | c.480T>A (p.Ser160=) n.538T>A | |
2 | g.206767173T>C | CA431115337 | FASTKD2 | c.480T>C (p.Ser160=) n.538T>C | |
2 | g.206767173T>G | CA431115339 | FASTKD2 | c.480T>G (p.Ser160=) n.538T>G | dbSNP |
2 | g.206767173T= | CA1323320499 | FASTKD2 | c.480T= (p.Ser160=) n.538T= | |
2 | g.206767173dup | CA1323320500 | FASTKD2 | c.480dup (p.Glu161Ter) n.538dup | dbSNP |
2 | g.206767174G>A | CA350071255 | FASTKD2 | c.481G>A (p.Glu161Lys) n.539G>A | |
2 | g.206767174G>C | CA350071251 | FASTKD2 | c.481G>C (p.Glu161Gln) n.539G>C | |
2 | g.206767174G>T | CA350071257 | FASTKD2 | c.481G>T (p.Glu161Ter) n.539G>T | |
2 | g.206767175A>C | CA350071262 | FASTKD2 | c.482A>C (p.Glu161Ala) n.540A>C | |
2 | g.206767175A>G | CA350071279 | FASTKD2 | c.482A>G (p.Glu161Gly) n.540A>G | gnomAD v4 |
2 | g.206767175A>T | CA350071275 | FASTKD2 | c.482A>T (p.Glu161Val) n.540A>T | |
2 | g.206767176G>A | CA431115342 | FASTKD2 | c.483G>A (p.Glu161=) n.541G>A | |
2 | g.206767176G>C | CA350071285 | FASTKD2 | c.483G>C (p.Glu161Asp) n.541G>C | |
2 | g.206767176G>T | CA350071291 | FASTKD2 | c.483G>T (p.Glu161Asp) n.541G>T | COSMIC |
2 | g.206767177G>A | CA350071293 | FASTKD2 | c.484G>A (p.Glu162Lys) n.542G>A | ClinVar |
2 | g.206767177G>C | CA350071295 | FASTKD2 | c.484G>C (p.Glu162Gln) n.542G>C | |
2 | g.206767177G>T | CA350071297 | FASTKD2 | c.484G>T (p.Glu162Ter) n.542G>T | |
2 | g.206767178A= | CA1323320501 | FASTKD2 | c.485A= (p.Glu162=) n.543A= | |
2 | g.206767178A>C | CA350071298 | FASTKD2 | c.485A>C (p.Glu162Ala) n.543A>C | |
2 | g.206767178A>G | CA2074886 | FASTKD2 | c.485A>G (p.Glu162Gly) n.543A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767178A>T | CA350071302 | FASTKD2 | c.485A>T (p.Glu162Val) n.543A>T | |
2 | g.206767179A>C | CA350071304 | FASTKD2 | c.486A>C (p.Glu162Asp) n.544A>C | |
2 | g.206767179A>G | CA431115347 | FASTKD2 | c.486A>G (p.Glu162=) n.544A>G | gnomAD v4 |
2 | g.206767179A>T | CA350071308 | FASTKD2 | c.486A>T (p.Glu162Asp) n.544A>T | |
2 | g.206767180T>A | CA350071323 | FASTKD2 | c.487T>A (p.Cys163Ser) n.545T>A | |
2 | g.206767180T>C | CA350071321 | FASTKD2 | c.487T>C (p.Cys163Arg) n.545T>C | |
2 | g.206767180T>G | CA350071317 | FASTKD2 | c.487T>G (p.Cys163Gly) n.545T>G | |
2 | g.206767181G>A | CA350071326 | FASTKD2 | c.488G>A (p.Cys163Tyr) n.546G>A | |
2 | g.206767181G>C | CA350071330 | FASTKD2 | c.488G>C (p.Cys163Ser) n.546G>C | |
2 | g.206767181G>T | CA350071333 | FASTKD2 | c.488G>T (p.Cys163Phe) n.546G>T | |
2 | g.206767182T>A | CA350071334 | FASTKD2 | c.489T>A (p.Cys163Ter) n.547T>A | |
2 | g.206767182T>C | CA2074887 | FASTKD2 | c.489T>C (p.Cys163=) n.547T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767182T>G | CA350071337 | FASTKD2 | c.489T>G (p.Cys163Trp) n.547T>G | |
2 | g.206767182T= | CA1323320502 | FASTKD2 | c.489T= (p.Cys163=) n.547T= | |
2 | g.206767183A>C | CA350071340 | FASTKD2 | c.490A>C (p.Asn164His) n.548A>C | |
2 | g.206767183A>G | CA350071343 | FASTKD2 | c.490A>G (p.Asn164Asp) n.548A>G | |
2 | g.206767183A>T | CA350071346 | FASTKD2 | c.490A>T (p.Asn164Tyr) n.548A>T | |
2 | g.206767184A>C | CA350071348 | FASTKD2 | c.491A>C (p.Asn164Thr) n.549A>C | |
2 | g.206767184A>G | CA350071355 | FASTKD2 | c.491A>G (p.Asn164Ser) n.549A>G | |
2 | g.206767184A>T | CA350071358 | FASTKD2 | c.491A>T (p.Asn164Ile) n.549A>T | |
2 | g.206767185T>A | CA350071365 | FASTKD2 | c.492T>A (p.Asn164Lys) n.550T>A | |
2 | g.206767185T>C | CA431115361 | FASTKD2 | c.492T>C (p.Asn164=) n.550T>C | |
2 | g.206767185T>G | CA350071361 | FASTKD2 | c.492T>G (p.Asn164Lys) n.550T>G | |
2 | g.206767186T>A | CA350071368 | FASTKD2 | c.493T>A (p.Ser165Thr) n.551T>A | |
2 | g.206767186T>C | CA2074888 | FASTKD2 | c.493T>C (p.Ser165Pro) n.551T>C | dbSNP ExAC gnomAD v2 |
2 | g.206767186T>G | CA350071374 | FASTKD2 | c.493T>G (p.Ser165Ala) n.551T>G | |
2 | g.206767186T= | CA1323320503 | FASTKD2 | c.493T= (p.Ser165=) n.551T= | |
2 | g.206767187C>A | CA350071380 | FASTKD2 | c.494C>A (p.Ser165Tyr) n.552C>A | |
2 | g.206767187C>G | CA350071383 | FASTKD2 | c.494C>G (p.Ser165Cys) n.552C>G | |
2 | g.206767187C>T | CA350071386 | FASTKD2 | c.494C>T (p.Ser165Phe) n.552C>T | COSMIC |
2 | g.206767188C>A | CA431115368 | FASTKD2 | c.495C>A (p.Ser165=) n.553C>A | |
2 | g.206767188C>G | CA431115370 | FASTKD2 | c.495C>G (p.Ser165=) n.553C>G | gnomAD v4 |
2 | g.206767188C>T | CA431115371 | FASTKD2 | c.495C>T (p.Ser165=) n.553C>T | gnomAD v4 |
2 | g.206767188_206767190delinsCCT | CA1323320504 | FASTKD2 | c.495_497delinsCCT (p.Ser165=) n.553_555delinsCCT | |
2 | g.206767189C>A | CA350071394 | FASTKD2 | c.496C>A (p.Leu166Met) n.554C>A | |
2 | g.206767189C>G | CA350071390 | FASTKD2 | c.496C>G (p.Leu166Val) n.554C>G | |
2 | g.206767189C>T | CA431115374 | FASTKD2 | c.496C>T (p.Leu166=) n.554C>T | |
2 | g.206767189_206767190del | CA763820976 | FASTKD2 | c.496_497del (p.Leu166GlufsTer2) n.554_555del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767190T>A | CA350071414 | FASTKD2 | c.497T>A (p.Leu166Gln) n.555T>A | |
2 | g.206767190T>C | CA350071420 | FASTKD2 | c.497T>C (p.Leu166Pro) n.555T>C | gnomAD v4 |
2 | g.206767190T>G | CA350071424 | FASTKD2 | c.497T>G (p.Leu166Arg) n.555T>G | |
2 | g.206767191G>A | CA431115377 | FASTKD2 | c.498G>A (p.Leu166=) n.556G>A | |
2 | g.206767191G>C | CA431115379 | FASTKD2 | c.498G>C (p.Leu166=) n.556G>C | |
2 | g.206767191G>T | CA431115380 | FASTKD2 | c.498G>T (p.Leu166=) n.556G>T | |
2 | g.206767192A>C | CA350071428 | FASTKD2 | c.499A>C (p.Ser167Arg) n.557A>C | |
2 | g.206767192A>G | CA350071433 | FASTKD2 | c.499A>G (p.Ser167Gly) n.557A>G | |
2 | g.206767192A>T | CA350071443 | FASTKD2 | c.499A>T (p.Ser167Cys) n.557A>T | |
2 | g.206767193G>A | CA350071446 | FASTKD2 | c.500G>A (p.Ser167Asn) n.558G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767193G>C | CA350071452 | FASTKD2 | c.500G>C (p.Ser167Thr) n.558G>C | |
2 | g.206767193G= | CA1323320505 | FASTKD2 | c.500G= (p.Ser167=) n.558G= | |
2 | g.206767193G>T | CA350071450 | FASTKD2 | c.500G>T (p.Ser167Ile) n.558G>T | |
2 | g.206767194T>A | CA350071459 | FASTKD2 | c.501T>A (p.Ser167Arg) n.559T>A | |
2 | g.206767194T>C | CA431115386 | FASTKD2 | c.501T>C (p.Ser167=) n.559T>C | |
2 | g.206767194T>G | CA350071461 | FASTKD2 | c.501T>G (p.Ser167Arg) n.559T>G | |
2 | g.206767195G>A | CA2074889 | FASTKD2 | c.502G>A (p.Asp168Asn) n.560G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767195G>C | CA350071463 | FASTKD2 | c.502G>C (p.Asp168His) n.560G>C | |
2 | g.206767195G= | CA1323320506 | FASTKD2 | c.502G= (p.Asp168=) n.560G= | |
2 | g.206767195G>T | CA350071464 | FASTKD2 | c.502G>T (p.Asp168Tyr) n.560G>T | |
2 | g.206767195_206767196delinsGA | CA1323320507 | FASTKD2 | c.502_503delinsGA (p.Asp168=) n.560_561delinsGA | |
2 | g.206767196del | CA539388790 | FASTKD2 | c.503del (p.Asp168ValfsTer3) n.561del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767196A= | CA1323320508 | FASTKD2 | c.503A= (p.Asp168=) n.561A= | |
2 | g.206767196A>C | CA350071465 | FASTKD2 | c.503A>C (p.Asp168Ala) n.561A>C | |
2 | g.206767196A>G | CA2074890 | FASTKD2 | c.503A>G (p.Asp168Gly) n.561A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767196A>T | CA350071467 | FASTKD2 | c.503A>T (p.Asp168Val) n.561A>T | |
2 | g.206767197T>A | CA350071475 | FASTKD2 | c.504T>A (p.Asp168Glu) n.562T>A | gnomAD v4 |
2 | g.206767197T>C | CA2074891 | FASTKD2 | c.504T>C (p.Asp168=) n.562T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767197T>G | CA350071487 | FASTKD2 | c.504T>G (p.Asp168Glu) n.562T>G | |
2 | g.206767197T= | CA1323320509 | FASTKD2 | c.504T= (p.Asp168=) n.562T= | |
2 | g.206767198G>A | CA350071493 | FASTKD2 | c.505G>A (p.Val169Met) n.563G>A | gnomAD v4 |
2 | g.206767198G>C | CA350071495 | FASTKD2 | c.505G>C (p.Val169Leu) n.563G>C | |
2 | g.206767198G>T | CA350071490 | FASTKD2 | c.505G>T (p.Val169Leu) n.563G>T | |
2 | g.206767199T>A | CA350071504 | FASTKD2 | c.506T>A (p.Val169Glu) n.564T>A | |
2 | g.206767199T>C | CA350071498 | FASTKD2 | c.506T>C (p.Val169Ala) n.564T>C | |
2 | g.206767199T>G | CA63710008 | FASTKD2 | c.506T>G (p.Val169Gly) n.564T>G | dbSNP gnomAD v4 |
2 | g.206767199T= | CA1323320510 | FASTKD2 | c.506T= (p.Val169=) n.564T= | |
2 | g.206767200G>A | CA431115402 | FASTKD2 | c.507G>A (p.Val169=) n.565G>A | gnomAD v4 |
2 | g.206767200G>C | CA431115403 | FASTKD2 | c.507G>C (p.Val169=) n.565G>C | |
2 | g.206767200G>T | CA431115404 | FASTKD2 | c.507G>T (p.Val169=) n.565G>T | |
2 | g.206767201T>A | CA350071505 | FASTKD2 | c.508T>A (p.Leu170Ile) n.566T>A | |
2 | g.206767201T>C | CA431115405 | FASTKD2 | c.508T>C (p.Leu170=) n.566T>C | |
2 | g.206767201T>G | CA350071510 | FASTKD2 | c.508T>G (p.Leu170Val) n.566T>G | |
2 | g.206767202T>A | CA350071513 | FASTKD2 | c.509T>A (p.Leu170Ter) n.567T>A | |
2 | g.206767202T>C | CA350071514 | FASTKD2 | c.509T>C (p.Leu170Ser) n.567T>C | |
2 | g.206767202T>G | CA350071525 | FASTKD2 | c.509T>G (p.Leu170Ter) n.567T>G | |
2 | g.206767203A>C | CA350071528 | FASTKD2 | c.510A>C (p.Leu170Phe) n.568A>C | |
2 | g.206767203A>G | CA431115411 | FASTKD2 | c.510A>G (p.Leu170=) n.568A>G | |
2 | g.206767203A>T | CA350071531 | FASTKD2 | c.510A>T (p.Leu170Phe) n.568A>T | |
2 | g.206767204G>A | CA350071534 | FASTKD2 | c.511G>A (p.Asp171Asn) n.569G>A | |
2 | g.206767204G>C | CA350071541 | FASTKD2 | c.511G>C (p.Asp171His) n.569G>C | |
2 | g.206767204G>T | CA350071542 | FASTKD2 | c.511G>T (p.Asp171Tyr) n.569G>T | gnomAD v4 |
2 | g.206767205A>C | CA350071549 | FASTKD2 | c.512A>C (p.Asp171Ala) n.570A>C | |
2 | g.206767205A>G | CA350071545 | FASTKD2 | c.512A>G (p.Asp171Gly) n.570A>G | |
2 | g.206767205A>T | CA350071547 | FASTKD2 | c.512A>T (p.Asp171Val) n.570A>T | gnomAD v4 |
2 | g.206767206T>A | CA350071553 | FASTKD2 | c.513T>A (p.Asp171Glu) n.571T>A | |
2 | g.206767206T>C | CA431115417 | FASTKD2 | c.513T>C (p.Asp171=) n.571T>C | |
2 | g.206767206T>G | CA350071556 | FASTKD2 | c.513T>G (p.Asp171Glu) n.571T>G | |
2 | g.206767207G>A | CA350071558 | FASTKD2 | c.514G>A (p.Ala172Thr) n.572G>A | |
2 | g.206767207G>C | CA350071561 | FASTKD2 | c.514G>C (p.Ala172Pro) n.572G>C | |
2 | g.206767207G>T | CA350071564 | FASTKD2 | c.514G>T (p.Ala172Ser) n.572G>T | |
2 | g.206767208C>A | CA350071573 | FASTKD2 | c.515C>A (p.Ala172Glu) n.573C>A | |
2 | g.206767208C>G | CA350071574 | FASTKD2 | c.515C>G (p.Ala172Gly) n.573C>G | |
2 | g.206767208C>T | CA350071576 | FASTKD2 | c.515C>T (p.Ala172Val) n.573C>T | |
2 | g.206767209A= | CA1323320511 | FASTKD2 | c.516A= (p.Ala172=) n.574A= | |
2 | g.206767209A>C | CA431115427 | FASTKD2 | c.516A>C (p.Ala172=) n.574A>C | |
2 | g.206767209A>G | CA2074892 | FASTKD2 | c.516A>G (p.Ala172=) n.574A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767209A>T | CA431115426 | FASTKD2 | c.516A>T (p.Ala172=) n.574A>T | |
2 | g.206767210T>A | CA350071582 | FASTKD2 | c.517T>A (p.Phe173Ile) n.575T>A | |
2 | g.206767210T>C | CA350071592 | FASTKD2 | c.517T>C (p.Phe173Leu) n.575T>C | |
2 | g.206767210T>G | CA350071595 | FASTKD2 | c.517T>G (p.Phe173Val) n.575T>G | |
2 | g.206767211T>A | CA350071602 | FASTKD2 | c.518T>A (p.Phe173Tyr) n.576T>A | |
2 | g.206767211T>C | CA350071606 | FASTKD2 | c.518T>C (p.Phe173Ser) n.576T>C | |
2 | g.206767211T>G | CA350071599 | FASTKD2 | c.518T>G (p.Phe173Cys) n.576T>G | |
2 | g.206767212T>A | CA350071610 | FASTKD2 | c.519T>A (p.Phe173Leu) n.577T>A | |
2 | g.206767212T>C | CA431115437 | FASTKD2 | c.519T>C (p.Phe173=) n.577T>C | |
2 | g.206767212T>G | CA350071613 | FASTKD2 | c.519T>G (p.Phe173Leu) n.577T>G | |
2 | g.206767213T>A | CA350071621 | FASTKD2 | c.520T>A (p.Ser174Thr) n.578T>A | |
2 | g.206767213T>C | CA350071627 | FASTKD2 | c.520T>C (p.Ser174Pro) n.578T>C | |
2 | g.206767213T>G | CA350071630 | FASTKD2 | c.520T>G (p.Ser174Ala) n.578T>G | |
2 | g.206767214C>A | CA350071634 | FASTKD2 | c.521C>A (p.Ser174Ter) n.579C>A | |
2 | g.206767214C>G | CA350071636 | FASTKD2 | c.521C>G (p.Ser174Ter) n.579C>G | |
2 | g.206767214C>T | CA350071639 | FASTKD2 | c.521C>T (p.Ser174Leu) n.579C>T | |
2 | g.206767215A= | CA1323320512 | FASTKD2 | c.522A= (p.Ser174=) n.580A= | |
2 | g.206767215A>C | CA431115450 | FASTKD2 | c.522A>C (p.Ser174=) n.580A>C | |
2 | g.206767215A>G | CA431115448 | FASTKD2 | c.522A>G (p.Ser174=) n.580A>G | |
2 | g.206767215A>T | CA431115452 | FASTKD2 | c.522A>T (p.Ser174=) n.580A>T | |
2 | g.206767215_206767216insTTGGAGACTTCATGATT | CA1323320514 | FASTKD2 | c.522_523insTTGGAGACTTCATGATT (p.Lys175LeufsTer5) n.580_581insTTGGAGACTTCATGATT | dbSNP |
2 | g.206767216A= | CA1323320513 | FASTKD2 | c.523A= (p.Lys175=) n.581A= | |
2 | g.206767216A>C | CA350071642 | FASTKD2 | c.523A>C (p.Lys175Gln) n.581A>C | |
2 | g.206767216A>G | CA2074893 | FASTKD2 | c.523A>G (p.Lys175Glu) n.581A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767216A>T | CA350071650 | FASTKD2 | c.523A>T (p.Lys175Ter) n.581A>T | |
2 | g.206767217A>C | CA350071653 | FASTKD2 | c.524A>C (p.Lys175Thr) n.582A>C | |
2 | g.206767217A>G | CA350071655 | FASTKD2 | c.524A>G (p.Lys175Arg) n.582A>G | gnomAD v4 |
2 | g.206767217A>T | CA350071657 | FASTKD2 | c.524A>T (p.Lys175Ile) n.582A>T | |
2 | g.206767218A= | CA1323320515 | FASTKD2 | c.525A= (p.Lys175=) n.583A= | |
2 | g.206767218A>C | CA350071659 | FASTKD2 | c.525A>C (p.Lys175Asn) n.583A>C | |
2 | g.206767218A>G | CA431115455 | FASTKD2 | c.525A>G (p.Lys175=) n.583A>G | dbSNP |
2 | g.206767218A>T | CA350071663 | FASTKD2 | c.525A>T (p.Lys175Asn) n.583A>T | |
2 | g.206767219G>A | CA350071667 | FASTKD2 | c.526G>A (p.Ala176Thr) n.584G>A | |
2 | g.206767219G>C | CA350071676 | FASTKD2 | c.526G>C (p.Ala176Pro) n.584G>C | |
2 | g.206767219G>T | CA350071682 | FASTKD2 | c.526G>T (p.Ala176Ser) n.584G>T | ClinVar |
2 | g.206767220C>A | CA350071685 | FASTKD2 | c.527C>A (p.Ala176Glu) n.585C>A | |
2 | g.206767220C= | CA1323320516 | FASTKD2 | c.527C= (p.Ala176=) n.585C= | |
2 | g.206767220C>G | CA350071687 | FASTKD2 | c.527C>G (p.Ala176Gly) n.585C>G | dbSNP |
2 | g.206767220C>T | CA2074894 | FASTKD2 | c.527C>T (p.Ala176Val) n.585C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767221G>A | CA2074895 | FASTKD2 | c.528G>A (p.Ala176=) n.586G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.206767221G>C | CA431115465 | FASTKD2 | c.528G>C (p.Ala176=) n.586G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767221G= | CA1323320517 | FASTKD2 | c.528G= (p.Ala176=) n.586G= | |
2 | g.206767221G>T | CA2074896 | FASTKD2 | c.528G>T (p.Ala176=) n.586G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767222C>A | CA350071703 | FASTKD2 | c.529C>A (p.Pro177Thr) n.587C>A | |
2 | g.206767222C= | CA1323320518 | FASTKD2 | c.529C= (p.Pro177=) n.587C= | |
2 | g.206767222C>G | CA350071707 | FASTKD2 | c.529C>G (p.Pro177Ala) n.587C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767222C>T | CA350071708 | FASTKD2 | c.529C>T (p.Pro177Ser) n.587C>T | |
2 | g.206767223C>A | CA350071711 | FASTKD2 | c.530C>A (p.Pro177His) n.588C>A | |
2 | g.206767223C= | CA1323320519 | FASTKD2 | c.530C= (p.Pro177=) n.588C= | |
2 | g.206767223C>G | CA2074897 | FASTKD2 | c.530C>G (p.Pro177Arg) n.588C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767223C>T | CA350071713 | FASTKD2 | c.530C>T (p.Pro177Leu) n.588C>T | |
2 | g.206767224C>A | CA431115475 | FASTKD2 | c.531C>A (p.Pro177=) n.589C>A | dbSNP |
2 | g.206767224C= | CA1323320520 | FASTKD2 | c.531C= (p.Pro177=) n.589C= | |
2 | g.206767224C>G | CA431115476 | FASTKD2 | c.531C>G (p.Pro177=) n.589C>G | |
2 | g.206767224C>T | CA431115477 | FASTKD2 | c.531C>T (p.Pro177=) n.589C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767225A>C | CA350071718 | FASTKD2 | c.532A>C (p.Thr178Pro) n.590A>C | |
2 | g.206767225A>G | CA350071725 | FASTKD2 | c.532A>G (p.Thr178Ala) n.590A>G | |
2 | g.206767225A>T | CA350071716 | FASTKD2 | c.532A>T (p.Thr178Ser) n.590A>T | |
2 | g.206767226C>A | CA350071727 | FASTKD2 | c.533C>A (p.Thr178Lys) n.591C>A | |
2 | g.206767226C>G | CA350071733 | FASTKD2 | c.533C>G (p.Thr178Arg) n.591C>G | |
2 | g.206767226C>T | CA350071729 | FASTKD2 | c.533C>T (p.Thr178Ile) n.591C>T | |
2 | g.206767227A= | CA1323320522 | FASTKD2 | c.534A= (p.Thr178=) n.592A= | |
2 | g.206767227A>C | CA431115482 | FASTKD2 | c.534A>C (p.Thr178=) n.592A>C | |
2 | g.206767227A>G | CA2074898 | FASTKD2 | c.534A>G (p.Thr178=) n.592A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767227A>T | CA431115483 | FASTKD2 | c.534A>T (p.Thr178=) n.592A>T | |
2 | g.206767227_206767228delinsAT | CA1323320521 | FASTKD2 | c.534_535delinsAT (p.Thr178=) n.592_593delinsAT | |
2 | g.206767228T>A | CA350071748 | FASTKD2 | c.535T>A (p.Phe179Ile) n.593T>A | |
2 | g.206767228T>C | CA350071739 | FASTKD2 | c.535T>C (p.Phe179Leu) n.593T>C | |
2 | g.206767228T>G | CA350071752 | FASTKD2 | c.535T>G (p.Phe179Val) n.593T>G | |
2 | g.206767230del | CA539388791 | FASTKD2 | c.537del (p.Pro180LeufsTer27) n.595del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767229T>A | CA350071753 | FASTKD2 | c.536T>A (p.Phe179Tyr) n.594T>A | |
2 | g.206767229T>C | CA350071754 | FASTKD2 | c.536T>C (p.Phe179Ser) n.594T>C | |
2 | g.206767229T>G | CA350071755 | FASTKD2 | c.536T>G (p.Phe179Cys) n.594T>G | |
2 | g.206767230T>A | CA350071756 | FASTKD2 | c.537T>A (p.Phe179Leu) n.595T>A | |
2 | g.206767230T>C | CA431115488 | FASTKD2 | c.537T>C (p.Phe179=) n.595T>C | |
2 | g.206767230T>G | CA350071759 | FASTKD2 | c.537T>G (p.Phe179Leu) n.595T>G | |
2 | g.206767231C>A | CA350071764 | FASTKD2 | c.538C>A (p.Pro180Thr) n.596C>A | |
2 | g.206767231C>G | CA350071766 | FASTKD2 | c.538C>G (p.Pro180Ala) n.596C>G | |
2 | g.206767231C>T | CA350071768 | FASTKD2 | c.538C>T (p.Pro180Ser) n.596C>T | |
2 | g.206767232C>A | CA350071770 | FASTKD2 | c.539C>A (p.Pro180His) n.597C>A | |
2 | g.206767232C>G | CA350071771 | FASTKD2 | c.539C>G (p.Pro180Arg) n.597C>G | |
2 | g.206767232C>T | CA350071775 | FASTKD2 | c.539C>T (p.Pro180Leu) n.597C>T | COSMIC |