Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.206767088A>C | CA350070454 | FASTKD2 | c.395A>C (p.Lys132Thr) n.453A>C | |
2 | g.206767088A>G | CA350070458 | FASTKD2 | c.395A>G (p.Lys132Arg) n.453A>G | |
2 | g.206767088A>T | CA350070442 | FASTKD2 | c.395A>T (p.Lys132Ile) n.453A>T | |
2 | g.206767089A>C | CA350070470 | FASTKD2 | c.396A>C (p.Lys132Asn) n.454A>C | |
2 | g.206767089A>G | CA431115091 | FASTKD2 | c.396A>G (p.Lys132=) n.454A>G | |
2 | g.206767089A>T | CA350070471 | FASTKD2 | c.396A>T (p.Lys132Asn) n.454A>T | |
2 | g.206767090G>A | CA350070472 | FASTKD2 | c.397G>A (p.Val133Ile) n.455G>A | gnomAD v4 |
2 | g.206767090G>C | CA350070473 | FASTKD2 | c.397G>C (p.Val133Leu) n.455G>C | |
2 | g.206767090G>T | CA350070478 | FASTKD2 | c.397G>T (p.Val133Leu) n.455G>T | |
2 | g.206767091T>A | CA350070489 | FASTKD2 | c.398T>A (p.Val133Glu) n.456T>A | |
2 | g.206767091T>C | CA350070495 | FASTKD2 | c.398T>C (p.Val133Ala) n.456T>C | |
2 | g.206767091T>G | CA350070502 | FASTKD2 | c.398T>G (p.Val133Gly) n.456T>G | |
2 | g.206767092A>C | CA431115099 | FASTKD2 | c.399A>C (p.Val133=) n.457A>C | |
2 | g.206767092A>G | CA431115101 | FASTKD2 | c.399A>G (p.Val133=) n.457A>G | |
2 | g.206767092A>T | CA431115103 | FASTKD2 | c.399A>T (p.Val133=) n.457A>T | |
2 | g.206767093A= | CA1323320465 | FASTKD2 | c.400A= (p.Asn134=) n.458A= | |
2 | g.206767093A>C | CA350070506 | FASTKD2 | c.400A>C (p.Asn134His) n.458A>C | |
2 | g.206767093A>G | CA350070515 | FASTKD2 | c.400A>G (p.Asn134Asp) n.458A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767093A>T | CA350070519 | FASTKD2 | c.400A>T (p.Asn134Tyr) n.458A>T | |
2 | g.206767094A>C | CA350070526 | FASTKD2 | c.401A>C (p.Asn134Thr) n.459A>C | gnomAD v4 |
2 | g.206767094A>G | CA350070528 | FASTKD2 | c.401A>G (p.Asn134Ser) n.459A>G | gnomAD v4 |
2 | g.206767094A>T | CA350070531 | FASTKD2 | c.401A>T (p.Asn134Ile) n.459A>T | |
2 | g.206767095C>A | CA350070546 | FASTKD2 | c.402C>A (p.Asn134Lys) n.460C>A | |
2 | g.206767095C>G | CA350070538 | FASTKD2 | c.402C>G (p.Asn134Lys) n.460C>G | |
2 | g.206767095C>T | CA431115111 | FASTKD2 | c.402C>T (p.Asn134=) n.460C>T | |
2 | g.206767096C>A | CA350070564 | FASTKD2 | c.403C>A (p.Leu135Ile) n.461C>A | |
2 | g.206767096C= | CA1323320466 | FASTKD2 | c.403C= (p.Leu135=) n.461C= | |
2 | g.206767096C>G | CA350070568 | FASTKD2 | c.403C>G (p.Leu135Val) n.461C>G | |
2 | g.206767096C>T | CA350070582 | FASTKD2 | c.403C>T (p.Leu135Phe) n.461C>T | dbSNP gnomAD v2 |
2 | g.206767097T>A | CA350070586 | FASTKD2 | c.404T>A (p.Leu135His) n.462T>A | |
2 | g.206767097T>C | CA350070592 | FASTKD2 | c.404T>C (p.Leu135Pro) n.462T>C | |
2 | g.206767097T>G | CA350070594 | FASTKD2 | c.404T>G (p.Leu135Arg) n.462T>G | |
2 | g.206767098T>A | CA431115114 | FASTKD2 | c.405T>A (p.Leu135=) n.463T>A | |
2 | g.206767098T>C | CA431115116 | FASTKD2 | c.405T>C (p.Leu135=) n.463T>C | |
2 | g.206767098T>G | CA431115117 | FASTKD2 | c.405T>G (p.Leu135=) n.463T>G | |
2 | g.206767099A= | CA1323320467 | FASTKD2 | c.406A= (p.Asn136=) n.464A= | |
2 | g.206767099A>C | CA2074876 | FASTKD2 | c.406A>C (p.Asn136His) n.464A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767099A>G | CA350070604 | FASTKD2 | c.406A>G (p.Asn136Asp) n.464A>G | |
2 | g.206767099A>T | CA350070610 | FASTKD2 | c.406A>T (p.Asn136Tyr) n.464A>T | |
2 | g.206767100A>C | CA350070637 | FASTKD2 | c.407A>C (p.Asn136Thr) n.465A>C | |
2 | g.206767100A>G | CA350070646 | FASTKD2 | c.407A>G (p.Asn136Ser) n.465A>G | |
2 | g.206767100A>T | CA350070652 | FASTKD2 | c.407A>T (p.Asn136Ile) n.465A>T | |
2 | g.206767101T>A | CA350070657 | FASTKD2 | c.408T>A (p.Asn136Lys) n.466T>A | |
2 | g.206767101T>C | CA431115123 | FASTKD2 | c.408T>C (p.Asn136=) n.466T>C | |
2 | g.206767101T>G | CA350070659 | FASTKD2 | c.408T>G (p.Asn136Lys) n.466T>G | dbSNP |
2 | g.206767101T= | CA1323320468 | FASTKD2 | c.408T= (p.Asn136=) n.466T= | |
2 | g.206767101_206767102delinsTC | CA1323320469 | FASTKD2 | c.408_409delinsTC (p.Asn136=) n.466_467delinsTC | |
2 | g.206767102del | CA539388778 | FASTKD2 | c.409del (p.His137MetfsTer30) n.467del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767102C>A | CA350070664 | FASTKD2 | c.409C>A (p.His137Asn) n.467C>A | |
2 | g.206767102C>G | CA350070685 | FASTKD2 | c.409C>G (p.His137Asp) n.467C>G | |
2 | g.206767102C>T | CA350070684 | FASTKD2 | c.409C>T (p.His137Tyr) n.467C>T | |
2 | g.206767103A>C | CA350070688 | FASTKD2 | c.410A>C (p.His137Pro) n.468A>C | |
2 | g.206767103A>G | CA350070702 | FASTKD2 | c.410A>G (p.His137Arg) n.468A>G | gnomAD v4 |
2 | g.206767103A>T | CA350070703 | FASTKD2 | c.410A>T (p.His137Leu) n.468A>T | |
2 | g.206767104T>A | CA350070704 | FASTKD2 | c.411T>A (p.His137Gln) n.469T>A | |
2 | g.206767104T>C | CA431115125 | FASTKD2 | c.411T>C (p.His137=) n.469T>C | |
2 | g.206767104T>G | CA2074877 | FASTKD2 | c.411T>G (p.His137Gln) n.469T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767104T= | CA1323320470 | FASTKD2 | c.411T= (p.His137=) n.469T= | |
2 | g.206767105G>A | CA350070709 | FASTKD2 | c.412G>A (p.Glu138Lys) n.470G>A | |
2 | g.206767105G>C | CA350070714 | FASTKD2 | c.412G>C (p.Glu138Gln) n.470G>C | |
2 | g.206767105G>T | CA350070718 | FASTKD2 | c.412G>T (p.Glu138Ter) n.470G>T | |
2 | g.206767106A>C | CA350070719 | FASTKD2 | c.413A>C (p.Glu138Ala) n.471A>C | |
2 | g.206767106A>G | CA350070720 | FASTKD2 | c.413A>G (p.Glu138Gly) n.471A>G | |
2 | g.206767106A>T | CA350070721 | FASTKD2 | c.413A>T (p.Glu138Val) n.471A>T | |
2 | g.206767107A= | CA1323320471 | FASTKD2 | c.414A= (p.Glu138=) n.472A= | |
2 | g.206767107A>C | CA350070723 | FASTKD2 | c.414A>C (p.Glu138Asp) n.472A>C | gnomAD v4 |
2 | g.206767107A>G | CA63709949 | FASTKD2 | c.414A>G (p.Glu138=) n.472A>G | dbSNP |
2 | g.206767107A>T | CA350070727 | FASTKD2 | c.414A>T (p.Glu138Asp) n.472A>T | |
2 | g.206767108G>A | CA350070737 | FASTKD2 | c.415G>A (p.Val139Ile) n.473G>A | dbSNP |
2 | g.206767108G>C | CA350070730 | FASTKD2 | c.415G>C (p.Val139Leu) n.473G>C | |
2 | g.206767108G= | CA1323320472 | FASTKD2 | c.415G= (p.Val139=) n.473G= | |
2 | g.206767108G>T | CA350070736 | FASTKD2 | c.415G>T (p.Val139Phe) n.473G>T | gnomAD v4 |
2 | g.206767109T>A | CA350070738 | FASTKD2 | c.416T>A (p.Val139Asp) n.474T>A | |
2 | g.206767109T>C | CA350070741 | FASTKD2 | c.416T>C (p.Val139Ala) n.474T>C | gnomAD v4 |
2 | g.206767109T>G | CA350070745 | FASTKD2 | c.416T>G (p.Val139Gly) n.474T>G | |
2 | g.206767110C>A | CA431115138 | FASTKD2 | c.417C>A (p.Val139=) n.475C>A | |
2 | g.206767110C= | CA1323320473 | FASTKD2 | c.417C= (p.Val139=) n.475C= | |
2 | g.206767110C>G | CA2074878 | FASTKD2 | c.417C>G (p.Val139=) n.475C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767110C>T | CA431115141 | FASTKD2 | c.417C>T (p.Val139=) n.475C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767111T>A | CA350070752 | FASTKD2 | c.418T>A (p.Ser140Thr) n.476T>A | |
2 | g.206767111T>C | CA350070763 | FASTKD2 | c.418T>C (p.Ser140Pro) n.476T>C | |
2 | g.206767111T>G | CA350070766 | FASTKD2 | c.418T>G (p.Ser140Ala) n.476T>G | |
2 | g.206767112C>A | CA350070768 | FASTKD2 | c.419C>A (p.Ser140Tyr) n.477C>A | |
2 | g.206767112C>G | CA350070769 | FASTKD2 | c.419C>G (p.Ser140Cys) n.477C>G | gnomAD v4 |
2 | g.206767112C>T | CA350070780 | FASTKD2 | c.419C>T (p.Ser140Phe) n.477C>T | gnomAD v4 |
2 | g.206767113C>A | CA431115154 | FASTKD2 | c.420C>A (p.Ser140=) n.478C>A | |
2 | g.206767113C>G | CA431115155 | FASTKD2 | c.420C>G (p.Ser140=) n.478C>G | |
2 | g.206767113C>T | CA431115158 | FASTKD2 | c.420C>T (p.Ser140=) n.478C>T | |
2 | g.206767114A>C | CA350070786 | FASTKD2 | c.421A>C (p.Asn141His) n.479A>C | |
2 | g.206767114A>G | CA350070787 | FASTKD2 | c.421A>G (p.Asn141Asp) n.479A>G | |
2 | g.206767114A>T | CA350070788 | FASTKD2 | c.421A>T (p.Asn141Tyr) n.479A>T | |
2 | g.206767115A= | CA1323320474 | FASTKD2 | c.422A= (p.Asn141=) n.480A= | |
2 | g.206767115A>C | CA350070790 | FASTKD2 | c.422A>C (p.Asn141Thr) n.480A>C | |
2 | g.206767115A>G | CA350070791 | FASTKD2 | c.422A>G (p.Asn141Ser) n.480A>G | dbSNP gnomAD v4 |
2 | g.206767115A>T | CA350070789 | FASTKD2 | c.422A>T (p.Asn141Ile) n.480A>T | |
2 | g.206767116T>A | CA350070795 | FASTKD2 | c.423T>A (p.Asn141Lys) n.481T>A | |
2 | g.206767116T>C | CA431115160 | FASTKD2 | c.423T>C (p.Asn141=) n.481T>C | |
2 | g.206767116T>G | CA350070794 | FASTKD2 | c.423T>G (p.Asn141Lys) n.481T>G | gnomAD v4 |
2 | g.206767117G>A | CA2074879 | FASTKD2 | c.424G>A (p.Glu142Lys) n.482G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767117G>C | CA350070806 | FASTKD2 | c.424G>C (p.Glu142Gln) n.482G>C | |
2 | g.206767117G= | CA1323320475 | FASTKD2 | c.424G= (p.Glu142=) n.482G= | |
2 | g.206767117G>T | CA350070814 | FASTKD2 | c.424G>T (p.Glu142Ter) n.482G>T | |
2 | g.206767118A>C | CA350070816 | FASTKD2 | c.425A>C (p.Glu142Ala) n.483A>C | |
2 | g.206767118A>G | CA350070819 | FASTKD2 | c.425A>G (p.Glu142Gly) n.483A>G | |
2 | g.206767118A>T | CA350070818 | FASTKD2 | c.425A>T (p.Glu142Val) n.483A>T | |
2 | g.206767119A= | CA1323320476 | FASTKD2 | c.426A= (p.Glu142=) n.484A= | |
2 | g.206767119A>C | CA350070823 | FASTKD2 | c.426A>C (p.Glu142Asp) n.484A>C | |
2 | g.206767119A>G | CA431115168 | FASTKD2 | c.426A>G (p.Glu142=) n.484A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767119A>T | CA350070826 | FASTKD2 | c.426A>T (p.Glu142Asp) n.484A>T | |
2 | g.206767120G>A | CA350070830 | FASTKD2 | c.427G>A (p.Asp143Asn) n.485G>A | |
2 | g.206767120G>C | CA350070833 | FASTKD2 | c.427G>C (p.Asp143His) n.485G>C | |
2 | g.206767120G>T | CA350070832 | FASTKD2 | c.427G>T (p.Asp143Tyr) n.485G>T | |
2 | g.206767121A= | CA1323320477 | FASTKD2 | c.428A= (p.Asp143=) n.486A= | |
2 | g.206767121A>C | CA350070836 | FASTKD2 | c.428A>C (p.Asp143Ala) n.486A>C | dbSNP |
2 | g.206767121A>G | CA350070844 | FASTKD2 | c.428A>G (p.Asp143Gly) n.486A>G | gnomAD v4 |
2 | g.206767121A>T | CA350070841 | FASTKD2 | c.428A>T (p.Asp143Val) n.486A>T | |
2 | g.206767122T>A | CA350070847 | FASTKD2 | c.429T>A (p.Asp143Glu) n.487T>A | gnomAD v4 |
2 | g.206767122T>C | CA431115178 | FASTKD2 | c.429T>C (p.Asp143=) n.487T>C | gnomAD v4 |
2 | g.206767122T>G | CA350070848 | FASTKD2 | c.429T>G (p.Asp143Glu) n.487T>G | |
2 | g.206767123G>A | CA350070852 | FASTKD2 | c.430G>A (p.Val144Ile) n.488G>A | dbSNP |
2 | g.206767123G>C | CA2074880 | FASTKD2 | c.430G>C (p.Val144Leu) n.488G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767123G= | CA1323320478 | FASTKD2 | c.430G= (p.Val144=) n.488G= | |
2 | g.206767123G>T | CA350070855 | FASTKD2 | c.430G>T (p.Val144Phe) n.488G>T | |
2 | g.206767124T>A | CA350070858 | FASTKD2 | c.431T>A (p.Val144Asp) n.489T>A | |
2 | g.206767124T>C | CA350070859 | FASTKD2 | c.431T>C (p.Val144Ala) n.489T>C | |
2 | g.206767124T>G | CA350070860 | FASTKD2 | c.431T>G (p.Val144Gly) n.489T>G | |
2 | g.206767125T>A | CA431115191 | FASTKD2 | c.432T>A (p.Val144=) n.490T>A | |
2 | g.206767125T>C | CA431115190 | FASTKD2 | c.432T>C (p.Val144=) n.490T>C | gnomAD v4 |
2 | g.206767125T>G | CA431115189 | FASTKD2 | c.432T>G (p.Val144=) n.490T>G | |
2 | g.206767126C>A | CA350070863 | FASTKD2 | c.433C>A (p.Leu145Ile) n.491C>A | |
2 | g.206767126C>G | CA350070865 | FASTKD2 | c.433C>G (p.Leu145Val) n.491C>G | |
2 | g.206767126C>T | CA350070868 | FASTKD2 | c.433C>T (p.Leu145Phe) n.491C>T | |
2 | g.206767127T>A | CA350070880 | FASTKD2 | c.434T>A (p.Leu145His) n.492T>A | |
2 | g.206767127T>C | CA350070874 | FASTKD2 | c.434T>C (p.Leu145Pro) n.492T>C | |
2 | g.206767127T>G | CA350070871 | FASTKD2 | c.434T>G (p.Leu145Arg) n.492T>G | |
2 | g.206767128T>A | CA431115201 | FASTKD2 | c.435T>A (p.Leu145=) n.493T>A | |
2 | g.206767128T>C | CA2074881 | FASTKD2 | c.435T>C (p.Leu145=) n.493T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767128T>G | CA431115205 | FASTKD2 | c.435T>G (p.Leu145=) n.493T>G | |
2 | g.206767128T= | CA1323320479 | FASTKD2 | c.435T= (p.Leu145=) n.493T= | |
2 | g.206767129A= | CA1323320480 | FASTKD2 | c.436A= (p.Thr146=) n.494A= | |
2 | g.206767129A>C | CA350070889 | FASTKD2 | c.436A>C (p.Thr146Pro) n.494A>C | |
2 | g.206767129A>G | CA350070890 | FASTKD2 | c.436A>G (p.Thr146Ala) n.494A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767129A>T | CA350070891 | FASTKD2 | c.436A>T (p.Thr146Ser) n.494A>T | |
2 | g.206767130C>A | CA350070892 | FASTKD2 | c.437C>A (p.Thr146Asn) n.495C>A | gnomAD v4 |
2 | g.206767130C>G | CA350070893 | FASTKD2 | c.437C>G (p.Thr146Ser) n.495C>G | gnomAD v4 |
2 | g.206767130C>T | CA350070896 | FASTKD2 | c.437C>T (p.Thr146Ile) n.495C>T | |
2 | g.206767131C>A | CA431115210 | FASTKD2 | c.438C>A (p.Thr146=) n.496C>A | gnomAD v4 |
2 | g.206767131C>G | CA431115212 | FASTKD2 | c.438C>G (p.Thr146=) n.496C>G | |
2 | g.206767131C>T | CA431115213 | FASTKD2 | c.438C>T (p.Thr146=) n.496C>T | |
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 |