Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.206766977_206766982del | CA2074851 | FASTKD2 | c.284_289del (p.Ile95_Ser96del) n.342_347del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206766982A= | CA1323320425 | FASTKD2 | c.289A= (p.Thr97=) n.347A= | |
2 | g.206766982A>C | CA350069539 | FASTKD2 | c.289A>C (p.Thr97Pro) n.347A>C | |
2 | g.206766982A>G | CA350069543 | FASTKD2 | c.289A>G (p.Thr97Ala) n.347A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206766982A>T | CA350069544 | FASTKD2 | c.289A>T (p.Thr97Ser) n.347A>T | |
2 | g.206766983C>A | CA350069546 | FASTKD2 | c.290C>A (p.Thr97Asn) n.348C>A | |
2 | g.206766983C= | CA1323320426 | FASTKD2 | c.290C= (p.Thr97=) n.348C= | |
2 | g.206766983C>G | CA2074854 | FASTKD2 | c.290C>G (p.Thr97Ser) n.348C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206766983C>T | CA350069545 | FASTKD2 | c.290C>T (p.Thr97Ile) n.348C>T | gnomAD v4 |
2 | g.206766984T>A | CA431114848 | FASTKD2 | c.291T>A (p.Thr97=) n.349T>A | |
2 | g.206766984T>C | CA431114849 | FASTKD2 | c.291T>C (p.Thr97=) n.349T>C | |
2 | g.206766984T>G | CA431114850 | FASTKD2 | c.291T>G (p.Thr97=) n.349T>G | |
2 | g.206766985C>A | CA350069549 | FASTKD2 | c.292C>A (p.Leu98Ile) n.350C>A | |
2 | g.206766985C= | CA1323320427 | FASTKD2 | c.292C= (p.Leu98=) n.350C= | |
2 | g.206766985C>G | CA2074855 | FASTKD2 | c.292C>G (p.Leu98Val) n.350C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206766985C>T | CA431114851 | FASTKD2 | c.292C>T (p.Leu98=) n.350C>T | gnomAD v4 |
2 | g.206766986T>A | CA350069555 | FASTKD2 | c.293T>A (p.Leu98Gln) n.351T>A | |
2 | g.206766986T>C | CA350069558 | FASTKD2 | c.293T>C (p.Leu98Pro) n.351T>C | gnomAD v4 |
2 | g.206766986T>G | CA350069564 | FASTKD2 | c.293T>G (p.Leu98Arg) n.351T>G | |
2 | g.206766986dup | CA2577223875 | FASTKD2 | c.293dup (p.Thr99AsnfsTer4) n.351dup | |
2 | g.206766987A>C | CA431114855 | FASTKD2 | c.294A>C (p.Leu98=) n.352A>C | |
2 | g.206766987A>G | CA431114853 | FASTKD2 | c.294A>G (p.Leu98=) n.352A>G | |
2 | g.206766987A>T | CA431114854 | FASTKD2 | c.294A>T (p.Leu98=) n.352A>T | |
2 | g.206766988A>C | CA350069574 | FASTKD2 | c.295A>C (p.Thr99Pro) n.353A>C | |
2 | g.206766988A>G | CA350069567 | FASTKD2 | c.295A>G (p.Thr99Ala) n.353A>G | |
2 | g.206766988A>T | CA350069570 | FASTKD2 | c.295A>T (p.Thr99Ser) n.353A>T | |
2 | g.206766989C>A | CA350069582 | FASTKD2 | c.296C>A (p.Thr99Lys) n.354C>A | |
2 | g.206766989C>G | CA350069585 | FASTKD2 | c.296C>G (p.Thr99Arg) n.354C>G | |
2 | g.206766989C>T | CA350069587 | FASTKD2 | c.296C>T (p.Thr99Ile) n.354C>T | |
2 | g.206766990A= | CA1323320428 | FASTKD2 | c.297A= (p.Thr99=) n.355A= | |
2 | g.206766990A>C | CA431114860 | FASTKD2 | c.297A>C (p.Thr99=) n.355A>C | |
2 | g.206766990A>G | CA431114861 | FASTKD2 | c.297A>G (p.Thr99=) n.355A>G | dbSNP |
2 | g.206766990A>T | CA431114863 | FASTKD2 | c.297A>T (p.Thr99=) n.355A>T | |
2 | g.206766991G>A | CA350069589 | FASTKD2 | c.298G>A (p.Ala100Thr) n.356G>A | COSMIC |
2 | g.206766991G>C | CA350069591 | FASTKD2 | c.298G>C (p.Ala100Pro) n.356G>C | |
2 | g.206766991G= | CA1323320429 | FASTKD2 | c.298G= (p.Ala100=) n.356G= | |
2 | g.206766991G>T | CA320128 | FASTKD2 | c.298G>T (p.Ala100Ser) n.356G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206766992C>A | CA350069596 | FASTKD2 | c.299C>A (p.Ala100Asp) n.357C>A | |
2 | g.206766992C>G | CA350069614 | FASTKD2 | c.299C>G (p.Ala100Gly) n.357C>G | |
2 | g.206766992C>T | CA350069617 | FASTKD2 | c.299C>T (p.Ala100Val) n.357C>T | |
2 | g.206766993C>A | CA431114870 | FASTKD2 | c.300C>A (p.Ala100=) n.358C>A | |
2 | g.206766993C>G | CA431114868 | FASTKD2 | c.300C>G (p.Ala100=) n.358C>G | |
2 | g.206766993C>T | CA431114869 | FASTKD2 | c.300C>T (p.Ala100=) n.358C>T | gnomAD v4 |
2 | g.206766994C>A | CA350069621 | FASTKD2 | c.301C>A (p.Leu101Ile) n.359C>A | |
2 | g.206766994C= | CA1323320430 | FASTKD2 | c.301C= (p.Leu101=) n.359C= | |
2 | g.206766994C>G | CA63709853 | FASTKD2 | c.301C>G (p.Leu101Val) n.359C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206766994C>T | CA350069624 | FASTKD2 | c.301C>T (p.Leu101Phe) n.359C>T | |
2 | g.206766995T>A | CA350069628 | FASTKD2 | c.302T>A (p.Leu101His) n.360T>A | |
2 | g.206766995T>C | CA350069633 | FASTKD2 | c.302T>C (p.Leu101Pro) n.360T>C | |
2 | g.206766995T>G | CA350069631 | FASTKD2 | c.302T>G (p.Leu101Arg) n.360T>G | |
2 | g.206766996T>A | CA431114877 | FASTKD2 | c.303T>A (p.Leu101=) n.361T>A | |
2 | g.206766996T>C | CA431114878 | FASTKD2 | c.303T>C (p.Leu101=) n.361T>C | |
2 | g.206766996T>G | CA431114879 | FASTKD2 | c.303T>G (p.Leu101=) n.361T>G | |
2 | g.206766997A>C | CA431114880 | FASTKD2 | c.304A>C (p.Arg102=) n.362A>C | |
2 | g.206766997A>G | CA350069635 | FASTKD2 | c.304A>G (p.Arg102Gly) n.362A>G | ClinVar gnomAD v4 |
2 | g.206766997A>T | CA350069637 | FASTKD2 | c.304A>T (p.Arg102Ter) n.362A>T | |
2 | g.206766998G>A | CA350069639 | FASTKD2 | c.305G>A (p.Arg102Lys) n.363G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206766998G>C | CA350069641 | FASTKD2 | c.305G>C (p.Arg102Thr) n.363G>C | dbSNP gnomAD v4 |
2 | g.206766998G= | CA1323320431 | FASTKD2 | c.305G= (p.Arg102=) n.363G= | |
2 | g.206766998G>T | CA350069642 | FASTKD2 | c.305G>T (p.Arg102Ile) n.363G>T | |
2 | g.206766999A>C | CA350069645 | FASTKD2 | c.306A>C (p.Arg102Ser) n.364A>C | |
2 | g.206766999A>G | CA431114884 | FASTKD2 | c.306A>G (p.Arg102=) n.364A>G | |
2 | g.206766999A>T | CA350069647 | FASTKD2 | c.306A>T (p.Arg102Ser) n.364A>T | |
2 | g.206767000A>C | CA350069649 | FASTKD2 | c.307A>C (p.Ile103Leu) n.365A>C | |
2 | g.206767000A>G | CA350069656 | FASTKD2 | c.307A>G (p.Ile103Val) n.365A>G | |
2 | g.206767000A>T | CA350069657 | FASTKD2 | c.307A>T (p.Ile103Phe) n.365A>T | |
2 | g.206767001T>A | CA350069661 | FASTKD2 | c.308T>A (p.Ile103Asn) n.366T>A | |
2 | g.206767001T>C | CA2074856 | FASTKD2 | c.308T>C (p.Ile103Thr) n.366T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767001T>G | CA350069667 | FASTKD2 | c.308T>G (p.Ile103Ser) n.366T>G | |
2 | g.206767001T= | CA1323320432 | FASTKD2 | c.308T= (p.Ile103=) n.366T= | |
2 | g.206767002T>A | CA431114886 | FASTKD2 | c.309T>A (p.Ile103=) n.367T>A | |
2 | g.206767002T>C | CA431114888 | FASTKD2 | c.309T>C (p.Ile103=) n.367T>C | |
2 | g.206767002T>G | CA350069670 | FASTKD2 | c.309T>G (p.Ile103Met) n.367T>G | |
2 | g.206767003G>A | CA350069674 | FASTKD2 | c.310G>A (p.Glu104Lys) n.368G>A | |
2 | g.206767003G>C | CA350069677 | FASTKD2 | c.310G>C (p.Glu104Gln) n.368G>C | |
2 | g.206767003G= | CA1323320433 | FASTKD2 | c.310G= (p.Glu104=) n.368G= | |
2 | g.206767003G>T | CA350069679 | FASTKD2 | c.310G>T (p.Glu104Ter) n.368G>T | dbSNP |
2 | g.206767004A= | CA1323320434 | FASTKD2 | c.311A= (p.Glu104=) n.369A= | |
2 | g.206767004A>C | CA350069682 | FASTKD2 | c.311A>C (p.Glu104Ala) n.369A>C | |
2 | g.206767004A>G | CA350069684 | FASTKD2 | c.311A>G (p.Glu104Gly) n.369A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767004A>T | CA350069686 | FASTKD2 | c.311A>T (p.Glu104Val) n.369A>T | dbSNP |
2 | g.206767005A>C | CA350069691 | FASTKD2 | c.312A>C (p.Glu104Asp) n.370A>C | |
2 | g.206767005A>G | CA431114894 | FASTKD2 | c.312A>G (p.Glu104=) n.370A>G | |
2 | g.206767005A>T | CA350069695 | FASTKD2 | c.312A>T (p.Glu104Asp) n.370A>T | |
2 | g.206767006A= | CA1323320435 | FASTKD2 | c.313A= (p.Arg105=) n.371A= | |
2 | g.206767006A>C | CA431114895 | FASTKD2 | c.313A>C (p.Arg105=) n.371A>C | |
2 | g.206767006A>G | CA2074857 | FASTKD2 | c.313A>G (p.Arg105Gly) n.371A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767006A>T | CA350069696 | FASTKD2 | c.313A>T (p.Arg105Ter) n.371A>T | |
2 | g.206767007G>A | CA350069697 | FASTKD2 | c.314G>A (p.Arg105Lys) n.372G>A | gnomAD v4 |
2 | g.206767007G>C | CA2074858 | FASTKD2 | c.314G>C (p.Arg105Thr) n.372G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767007G= | CA1323320436 | FASTKD2 | c.314G= (p.Arg105=) n.372G= | |
2 | g.206767007G>T | CA350069699 | FASTKD2 | c.314G>T (p.Arg105Ile) n.372G>T | |
2 | g.206767008A>C | CA350069708 | FASTKD2 | c.315A>C (p.Arg105Ser) n.373A>C | |
2 | g.206767008A>G | CA431114902 | FASTKD2 | c.315A>G (p.Arg105=) n.373A>G | |
2 | g.206767008A>T | CA350069704 | FASTKD2 | c.315A>T (p.Arg105Ser) n.373A>T | |
2 | g.206767009C>A | CA2074859 | FASTKD2 | c.316C>A (p.Leu106Ile) n.374C>A | dbSNP ExAC gnomAD v2 |
2 | g.206767009C= | CA1323320437 | FASTKD2 | c.316C= (p.Leu106=) n.374C= | |
2 | g.206767009C>G | CA350069712 | FASTKD2 | c.316C>G (p.Leu106Val) n.374C>G | |
2 | g.206767009C>T | CA431114907 | FASTKD2 | c.316C>T (p.Leu106=) n.374C>T | |
2 | g.206767009_206767014delinsCTACTT | CA1323320438 | FASTKD2 | c.316_321delinsCTACTT (p.Leu106=) n.374_379delinsCTACTT | |
2 | g.206767010T>A | CA350069716 | FASTKD2 | c.317T>A (p.Leu106Gln) n.375T>A | |
2 | g.206767010T>C | CA350069717 | FASTKD2 | c.317T>C (p.Leu106Pro) n.375T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767010T>G | CA350069718 | FASTKD2 | c.317T>G (p.Leu106Arg) n.375T>G | |
2 | g.206767010T= | CA1323320439 | FASTKD2 | c.317T= (p.Leu106=) n.375T= | |
2 | g.206767012_206767016del | CA2074860 | FASTKD2 | c.319_323del (p.Leu107CysfsTer2) n.377_381del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767011A>C | CA431114911 | FASTKD2 | c.318A>C (p.Leu106=) n.376A>C | |
2 | g.206767011A>G | CA431114913 | FASTKD2 | c.318A>G (p.Leu106=) n.376A>G | |
2 | g.206767011A>T | CA431114914 | FASTKD2 | c.318A>T (p.Leu106=) n.376A>T | |
2 | g.206767012C>A | CA350069719 | FASTKD2 | c.319C>A (p.Leu107Ile) n.377C>A | |
2 | g.206767012C= | CA1323320440 | FASTKD2 | c.319C= (p.Leu107=) n.377C= | |
2 | g.206767012C>G | CA2074861 | FASTKD2 | c.319C>G (p.Leu107Val) n.377C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767012C>T | CA63709889 | FASTKD2 | c.319C>T (p.Leu107Phe) n.377C>T | dbSNP |
2 | g.206767013T>A | CA350069725 | FASTKD2 | c.320T>A (p.Leu107His) n.378T>A | |
2 | g.206767013T>C | CA350069736 | FASTKD2 | c.320T>C (p.Leu107Pro) n.378T>C | |
2 | g.206767013T>G | CA350069726 | FASTKD2 | c.320T>G (p.Leu107Arg) n.378T>G | |
2 | g.206767014T>A | CA431114916 | FASTKD2 | c.321T>A (p.Leu107=) n.379T>A | |
2 | g.206767014T>C | CA431114917 | FASTKD2 | c.321T>C (p.Leu107=) n.379T>C | |
2 | g.206767014T>G | CA2074862 | FASTKD2 | c.321T>G (p.Leu107=) n.379T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767014T= | CA1323320441 | FASTKD2 | c.321T= (p.Leu107=) n.379T= | |
2 | g.206767015T>A | CA350069742 | FASTKD2 | c.322T>A (p.Tyr108Asn) n.380T>A | |
2 | g.206767015T>C | CA2074863 | FASTKD2 | c.322T>C (p.Tyr108His) n.380T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767015T>G | CA2074864 | FASTKD2 | c.322T>G (p.Tyr108Asp) n.380T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767015T= | CA1323320442 | FASTKD2 | c.322T= (p.Tyr108=) n.380T= | |
2 | g.206767016A= | CA1323320443 | FASTKD2 | c.323A= (p.Tyr108=) n.381A= | |
2 | g.206767016A>C | CA350069746 | FASTKD2 | c.323A>C (p.Tyr108Ser) n.381A>C | |
2 | g.206767016A>G | CA2074865 | FASTKD2 | c.323A>G (p.Tyr108Cys) n.381A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767016A>T | CA350069749 | FASTKD2 | c.323A>T (p.Tyr108Phe) n.381A>T | |
2 | g.206767017T>A | CA350069754 | FASTKD2 | c.324T>A (p.Tyr108Ter) n.382T>A | |
2 | g.206767017T>C | CA431114925 | FASTKD2 | c.324T>C (p.Tyr108=) n.382T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767017T>G | CA350069755 | FASTKD2 | c.324T>G (p.Tyr108Ter) n.382T>G | |
2 | g.206767017T= | CA1323320444 | FASTKD2 | c.324T= (p.Tyr108=) n.382T= | |
2 | g.206767018G>A | CA350069761 | FASTKD2 | c.325G>A (p.Ala109Thr) n.383G>A | |
2 | g.206767018G>C | CA350069774 | FASTKD2 | c.325G>C (p.Ala109Pro) n.383G>C | |
2 | g.206767018G>T | CA350069778 | FASTKD2 | c.325G>T (p.Ala109Ser) n.383G>T | |
2 | g.206767019C>A | CA350069796 | FASTKD2 | c.326C>A (p.Ala109Asp) n.384C>A | |
2 | g.206767019C= | CA1323320445 | FASTKD2 | c.326C= (p.Ala109=) n.384C= | |
2 | g.206767019C>G | CA350069798 | FASTKD2 | c.326C>G (p.Ala109Gly) n.384C>G | |
2 | g.206767019C>T | CA2074866 | FASTKD2 | c.326C>T (p.Ala109Val) n.384C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767020T>A | CA431114939 | FASTKD2 | c.327T>A (p.Ala109=) n.385T>A | |
2 | g.206767020T>C | CA431114940 | FASTKD2 | c.327T>C (p.Ala109=) n.385T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767020T>G | CA431114943 | FASTKD2 | c.327T>G (p.Ala109=) n.385T>G | |
2 | g.206767020T= | CA1323320446 | FASTKD2 | c.327T= (p.Ala109=) n.385T= | |
2 | g.206767020_206767021delinsTA | CA1323320447 | FASTKD2 | c.327_328delinsTA (p.Ala109=) n.385_386delinsTA | |
2 | g.206767021A= | CA1323320448 | FASTKD2 | c.328A= (p.Lys110=) n.386A= | |
2 | g.206767021A>C | CA350069819 | FASTKD2 | c.328A>C (p.Lys110Gln) n.386A>C | |
2 | g.206767021A>G | CA2074867 | FASTKD2 | c.328A>G (p.Lys110Glu) n.386A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767021A>T | CA350069838 | FASTKD2 | c.328A>T (p.Lys110Ter) n.386A>T | gnomAD v4 |
2 | g.206767024del | CA763820600 | FASTKD2 | c.331del (p.Arg111AspfsTer20) c.331del (p.Arg111AspfsTer?) n.389del | dbSNP |
2 | g.206767022A>C | CA350069841 | FASTKD2 | c.329A>C (p.Lys110Thr) n.387A>C | gnomAD v4 |
2 | g.206767022A>G | CA350069840 | FASTKD2 | c.329A>G (p.Lys110Arg) n.387A>G | |
2 | g.206767022A>T | CA350069839 | FASTKD2 | c.329A>T (p.Lys110Ile) n.387A>T | |
2 | g.206767023A>C | CA350069849 | FASTKD2 | c.330A>C (p.Lys110Asn) n.388A>C | |
2 | g.206767023A>G | CA431114950 | FASTKD2 | c.330A>G (p.Lys110=) n.388A>G | |
2 | g.206767023A>T | CA350069845 | FASTKD2 | c.330A>T (p.Lys110Asn) n.388A>T | |
2 | g.206767024A>C | CA431114951 | FASTKD2 | c.331A>C (p.Arg111=) n.389A>C | |
2 | g.206767024A>G | CA350069852 | FASTKD2 | c.331A>G (p.Arg111Gly) n.389A>G | |
2 | g.206767024A>T | CA350069857 | FASTKD2 | c.331A>T (p.Arg111Ter) n.389A>T | |
2 | g.206767025G>A | CA350069863 | FASTKD2 | c.332G>A (p.Arg111Lys) n.390G>A | |
2 | g.206767025G>C | CA350069865 | FASTKD2 | c.332G>C (p.Arg111Thr) n.390G>C | |
2 | g.206767025G>T | CA350069867 | FASTKD2 | c.332G>T (p.Arg111Ile) n.390G>T | |
2 | g.206767026A= | CA1323320449 | FASTKD2 | c.333A= (p.Arg111=) n.391A= | |
2 | g.206767026A>C | CA350069870 | FASTKD2 | c.333A>C (p.Arg111Ser) n.391A>C | |
2 | g.206767026A>G | CA431114957 | FASTKD2 | c.333A>G (p.Arg111=) n.391A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767026A>T | CA350069877 | FASTKD2 | c.333A>T (p.Arg111Ser) n.391A>T | |
2 | g.206767027C>A | CA350069882 | FASTKD2 | c.334C>A (p.Leu112Met) n.392C>A | |
2 | g.206767027C>G | CA350069884 | FASTKD2 | c.334C>G (p.Leu112Val) n.392C>G | gnomAD v4 |
2 | g.206767027C>T | CA431114960 | FASTKD2 | c.334C>T (p.Leu112=) n.392C>T | gnomAD v4 |
2 | g.206767028T>A | CA350069886 | FASTKD2 | c.335T>A (p.Leu112Gln) n.393T>A | |
2 | g.206767028T>C | CA350069887 | FASTKD2 | c.335T>C (p.Leu112Pro) n.393T>C | |
2 | g.206767028T>G | CA350069888 | FASTKD2 | c.335T>G (p.Leu112Arg) n.393T>G | |
2 | g.206767029G>A | CA2074868 | FASTKD2 | c.336G>A (p.Leu112=) n.394G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767029G>C | CA431114961 | FASTKD2 | c.336G>C (p.Leu112=) n.394G>C | |
2 | g.206767029G= | CA1323320450 | FASTKD2 | c.336G= (p.Leu112=) n.394G= | |
2 | g.206767029G>T | CA431114963 | FASTKD2 | c.336G>T (p.Leu112=) n.394G>T | gnomAD v4 |
2 | g.206767029_206767030delinsGT | CA1323320451 | FASTKD2 | c.336_337delinsGT (p.Leu112=) n.394_395delinsGT | |
2 | g.206767030T>A | CA350069894 | FASTKD2 | c.337T>A (p.Phe113Ile) n.395T>A | |
2 | g.206767030T>C | CA350069892 | FASTKD2 | c.337T>C (p.Phe113Leu) n.395T>C | |
2 | g.206767030T>G | CA2074869 | FASTKD2 | c.337T>G (p.Phe113Val) n.395T>G | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.206767030T= | CA1323320452 | FASTKD2 | c.337T= (p.Phe113=) n.395T= | |
2 | g.206767035dup | CA2754013356 | FASTKD2 | c.342dup (p.Asp115Ter) n.400dup | |
2 | g.206767035del | CA539388777 | FASTKD2 | c.342del (p.Phe114LeufsTer17) c.342del (p.Phe114LeufsTer?) n.400del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767031T>A | CA350069895 | FASTKD2 | c.338T>A (p.Phe113Tyr) n.396T>A | |
2 | g.206767031T>C | CA350069897 | FASTKD2 | c.338T>C (p.Phe113Ser) n.396T>C | |
2 | g.206767031T>G | CA350069898 | FASTKD2 | c.338T>G (p.Phe113Cys) n.396T>G | |
2 | g.206767032T>A | CA350069904 | FASTKD2 | c.339T>A (p.Phe113Leu) n.397T>A | |
2 | g.206767032T>C | CA431114970 | FASTKD2 | c.339T>C (p.Phe113=) n.397T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767032T>G | CA350069908 | FASTKD2 | c.339T>G (p.Phe113Leu) n.397T>G | |
2 | g.206767032T= | CA1323320453 | FASTKD2 | c.339T= (p.Phe113=) n.397T= | |
2 | g.206767033T>A | CA350069915 | FASTKD2 | c.340T>A (p.Phe114Ile) n.398T>A | |
2 | g.206767033T>C | CA350069919 | FASTKD2 | c.340T>C (p.Phe114Leu) n.398T>C | |
2 | g.206767033T>G | CA350069926 | FASTKD2 | c.340T>G (p.Phe114Val) n.398T>G | |
2 | g.206767034T>A | CA350069929 | FASTKD2 | c.341T>A (p.Phe114Tyr) n.399T>A | |
2 | g.206767034T>C | CA350069933 | FASTKD2 | c.341T>C (p.Phe114Ser) n.399T>C | |
2 | g.206767034T>G | CA350069945 | FASTKD2 | c.341T>G (p.Phe114Cys) n.399T>G | |
2 | g.206767035T>A | CA350069951 | FASTKD2 | c.342T>A (p.Phe114Leu) n.400T>A | |
2 | g.206767035T>C | CA431114974 | FASTKD2 | c.342T>C (p.Phe114=) n.400T>C | |
2 | g.206767035T>G | CA350069954 | FASTKD2 | c.342T>G (p.Phe114Leu) n.400T>G | |
2 | g.206767036G>A | CA350069960 | FASTKD2 | c.343G>A (p.Asp115Asn) n.401G>A | gnomAD v4 |
2 | g.206767036G>C | CA350069964 | FASTKD2 | c.343G>C (p.Asp115His) n.401G>C | gnomAD v4 |
2 | g.206767036G>T | CA350069957 | FASTKD2 | c.343G>T (p.Asp115Tyr) n.401G>T | gnomAD v4 |
2 | g.206767037A>C | CA350069972 | FASTKD2 | c.344A>C (p.Asp115Ala) n.402A>C | |
2 | g.206767037A>G | CA350069977 | FASTKD2 | c.344A>G (p.Asp115Gly) n.402A>G | gnomAD v4 |
2 | g.206767037A>T | CA350069980 | FASTKD2 | c.344A>T (p.Asp115Val) n.402A>T | |
2 | g.206767038C>A | CA350069983 | FASTKD2 | c.345C>A (p.Asp115Glu) n.403C>A | |
2 | g.206767038C>G | CA350069988 | FASTKD2 | c.345C>G (p.Asp115Glu) n.403C>G | |
2 | g.206767038C>T | CA431114981 | FASTKD2 | c.345C>T (p.Asp115=) n.403C>T | |
2 | g.206767039T>A | CA350070005 | FASTKD2 | c.346T>A (p.Ser116Thr) n.404T>A | |
2 | g.206767039T>C | CA350070000 | FASTKD2 | c.346T>C (p.Ser116Pro) n.404T>C | gnomAD v4 |
2 | g.206767039T>G | CA350069993 | FASTKD2 | c.346T>G (p.Ser116Ala) n.404T>G | |
2 | g.206767040C>A | CA350070009 | FASTKD2 | c.347C>A (p.Ser116Ter) n.405C>A | |
2 | g.206767040C>G | CA350070012 | FASTKD2 | c.347C>G (p.Ser116Ter) n.405C>G | gnomAD v4 |
2 | g.206767040C>T | CA350070013 | FASTKD2 | c.347C>T (p.Ser116Leu) n.405C>T | gnomAD v4 |
2 | g.206767041A= | CA1323320454 | FASTKD2 | c.348A= (p.Ser116=) n.406A= | |
2 | g.206767041A>C | CA431114982 | FASTKD2 | c.348A>C (p.Ser116=) n.406A>C | |
2 | g.206767041A>G | CA63709927 | FASTKD2 | c.348A>G (p.Ser116=) n.406A>G | dbSNP gnomAD v4 |
2 | g.206767041A>T | CA431114983 | FASTKD2 | c.348A>T (p.Ser116=) n.406A>T | |
2 | g.206767042A= | CA1323320455 | FASTKD2 | c.349A= (p.Lys117=) n.407A= | |
2 | g.206767042A>C | CA350070014 | FASTKD2 | c.349A>C (p.Lys117Gln) n.407A>C | |
2 | g.206767042A>G | CA2074870 | FASTKD2 | c.349A>G (p.Lys117Glu) n.407A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767042A>T | CA350070016 | FASTKD2 | c.349A>T (p.Lys117Ter) n.407A>T | |
2 | g.206767043A>C | CA350070027 | FASTKD2 | c.350A>C (p.Lys117Thr) n.408A>C | |
2 | g.206767043A>G | CA350070019 | FASTKD2 | c.350A>G (p.Lys117Arg) n.408A>G | gnomAD v4 |
2 | g.206767043A>T | CA350070022 | FASTKD2 | c.350A>T (p.Lys117Met) n.408A>T | gnomAD v4 |
2 | g.206767044G>A | CA431114987 | FASTKD2 | c.351G>A (p.Lys117=) n.409G>A | |
2 | g.206767044G>C | CA350070035 | FASTKD2 | c.351G>C (p.Lys117Asn) n.409G>C | |
2 | g.206767044G>T | CA350070039 | FASTKD2 | c.351G>T (p.Lys117Asn) n.409G>T | |
2 | g.206767045C>A | CA350070045 | FASTKD2 | c.352C>A (p.Gln118Lys) n.410C>A | |
2 | g.206767045C>G | CA350070047 | FASTKD2 | c.352C>G (p.Gln118Glu) n.410C>G | |
2 | g.206767045C>T | CA350070057 | FASTKD2 | c.352C>T (p.Gln118Ter) n.410C>T | gnomAD v4 |
2 | g.206767046A>C | CA350070066 | FASTKD2 | c.353A>C (p.Gln118Pro) n.411A>C | |
2 | g.206767046A>G | CA350070067 | FASTKD2 | c.353A>G (p.Gln118Arg) n.411A>G | |
2 | g.206767046A>T | CA350070071 | FASTKD2 | c.353A>T (p.Gln118Leu) n.411A>T | |
2 | g.206767047G>A | CA431114991 | FASTKD2 | c.354G>A (p.Gln118=) n.412G>A | |
2 | g.206767047G>C | CA350070077 | FASTKD2 | c.354G>C (p.Gln118His) n.412G>C | gnomAD v4 |
2 | g.206767047G>T | CA350070087 | FASTKD2 | c.354G>T (p.Gln118His) n.412G>T | gnomAD v4 |
2 | g.206767048T>A | CA350070089 | FASTKD2 | c.355T>A (p.Ser119Thr) n.413T>A | |
2 | g.206767048T>C | CA350070090 | FASTKD2 | c.355T>C (p.Ser119Pro) n.413T>C | gnomAD v4 |
2 | g.206767048T>G | CA350070092 | FASTKD2 | c.355T>G (p.Ser119Ala) n.413T>G | |
2 | g.206767051_206767052dup | CA2662829147 | FASTKD2 | c.358_359dup (p.Val121LeufsTer11) c.358_359dup (p.Val121LeufsTer?) n.416_417dup | gnomAD v4 |
2 | g.206767049C>A | CA350070095 | FASTKD2 | c.356C>A (p.Ser119Tyr) n.414C>A | |
2 | g.206767049C= | CA1323320456 | FASTKD2 | c.356C= (p.Ser119=) n.414C= | |
2 | g.206767049C>G | CA350070100 | FASTKD2 | c.356C>G (p.Ser119Cys) n.414C>G | COSMIC |
2 | g.206767049C>T | CA2074871 | FASTKD2 | c.356C>T (p.Ser119Phe) n.414C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767050T>A | CA431114997 | FASTKD2 | c.357T>A (p.Ser119=) n.415T>A | |
2 | g.206767050T>C | CA431115001 | FASTKD2 | c.357T>C (p.Ser119=) n.415T>C | |
2 | g.206767050T>G | CA431115003 | FASTKD2 | c.357T>G (p.Ser119=) n.415T>G | |
2 | g.206767051C>A | CA350070101 | FASTKD2 | c.358C>A (p.Leu120Ile) n.416C>A | |
2 | g.206767051C>G | CA350070102 | FASTKD2 | c.358C>G (p.Leu120Val) n.416C>G | |
2 | g.206767051C>T | CA350070105 | FASTKD2 | c.358C>T (p.Leu120Phe) n.416C>T | gnomAD v4 COSMIC |
2 | g.206767052T>A | CA350070106 | FASTKD2 | c.359T>A (p.Leu120His) n.417T>A | |
2 | g.206767052T>C | CA350070109 | FASTKD2 | c.359T>C (p.Leu120Pro) n.417T>C | |
2 | g.206767052T>G | CA350070114 | FASTKD2 | c.359T>G (p.Leu120Arg) n.417T>G | |
2 | g.206767053T>A | CA431115005 | FASTKD2 | c.360T>A (p.Leu120=) n.418T>A | |
2 | g.206767053T>C | CA431115006 | FASTKD2 | c.360T>C (p.Leu120=) n.418T>C | |
2 | g.206767053T>G | CA431115008 | FASTKD2 | c.360T>G (p.Leu120=) n.418T>G | |
2 | g.206767054G>A | CA350070116 | FASTKD2 | c.361G>A (p.Val121Ile) n.419G>A | |
2 | g.206767054G>C | CA350070120 | FASTKD2 | c.361G>C (p.Val121Leu) n.419G>C | |
2 | g.206767054G>T | CA350070122 | FASTKD2 | c.361G>T (p.Val121Phe) n.419G>T | gnomAD v4 |
2 | g.206767055T>A | CA350070129 | FASTKD2 | c.362T>A (p.Val121Asp) n.420T>A | |
2 | g.206767055T>C | CA350070136 | FASTKD2 | c.362T>C (p.Val121Ala) n.420T>C | |
2 | g.206767055T>G | CA350070138 | FASTKD2 | c.362T>G (p.Val121Gly) n.420T>G | |
2 | g.206767056C>A | CA431115015 | FASTKD2 | c.363C>A (p.Val121=) n.421C>A | |
2 | g.206767056C>G | CA431115018 | FASTKD2 | c.363C>G (p.Val121=) n.421C>G | |
2 | g.206767056C>T | CA431115016 | FASTKD2 | c.363C>T (p.Val121=) n.421C>T | gnomAD v4 |
2 | g.206767057C>A | CA350070152 | FASTKD2 | c.364C>A (p.Pro122Thr) n.422C>A | |
2 | g.206767057C>G | CA350070148 | FASTKD2 | c.364C>G (p.Pro122Ala) n.422C>G | gnomAD v4 |
2 | g.206767057C>T | CA350070142 | FASTKD2 | c.364C>T (p.Pro122Ser) n.422C>T | |
2 | g.206767058C>A | CA350070156 | FASTKD2 | c.365C>A (p.Pro122His) n.423C>A | |
2 | g.206767058C= | CA1323320457 | FASTKD2 | c.365C= (p.Pro122=) n.423C= | |
2 | g.206767058C>G | CA350070157 | FASTKD2 | c.365C>G (p.Pro122Arg) n.423C>G | |
2 | g.206767058C>T | CA350070158 | FASTKD2 | c.365C>T (p.Pro122Leu) n.423C>T | dbSNP gnomAD v4 |
2 | g.206767059del | CA2662829148 | FASTKD2 | c.366del (p.Val123LeufsTer8) c.366del (p.Val123LeufsTer?) n.424del | gnomAD v4 |
2 | g.206767059T>A | CA431115026 | FASTKD2 | c.366T>A (p.Pro122=) n.424T>A | |
2 | g.206767059T>C | CA431115027 | FASTKD2 | c.366T>C (p.Pro122=) n.424T>C | |
2 | g.206767059T>G | CA431115028 | FASTKD2 | c.366T>G (p.Pro122=) n.424T>G | |
2 | g.206767060G>A | CA350070159 | FASTKD2 | c.367G>A (p.Val123Ile) n.425G>A | gnomAD v4 |
2 | g.206767060G>C | CA350070160 | FASTKD2 | c.367G>C (p.Val123Leu) n.425G>C | |
2 | g.206767060G= | CA1323320458 | FASTKD2 | c.367G= (p.Val123=) n.425G= | |
2 | g.206767060G>T | CA2074872 | FASTKD2 | c.367G>T (p.Val123Phe) n.425G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767061T>A | CA350070167 | FASTKD2 | c.368T>A (p.Val123Asp) n.426T>A | |
2 | g.206767061T>C | CA350070171 | FASTKD2 | c.368T>C (p.Val123Ala) n.426T>C | gnomAD v4 |
2 | g.206767061T>G | CA350070173 | FASTKD2 | c.368T>G (p.Val123Gly) n.426T>G | |
2 | g.206767062T>A | CA431115033 | FASTKD2 | c.369T>A (p.Val123=) n.427T>A | |
2 | g.206767062T>C | CA431115037 | FASTKD2 | c.369T>C (p.Val123=) n.427T>C | |
2 | g.206767062T>G | CA431115038 | FASTKD2 | c.369T>G (p.Val123=) n.427T>G | |
2 | g.206767063G>A | CA350070176 | FASTKD2 | c.370G>A (p.Asp124Asn) n.428G>A | |
2 | g.206767063G>C | CA350070182 | FASTKD2 | c.370G>C (p.Asp124His) n.428G>C | gnomAD v4 |
2 | g.206767063G>T | CA350070190 | FASTKD2 | c.370G>T (p.Asp124Tyr) n.428G>T | |
2 | g.206767064A>C | CA350070195 | FASTKD2 | c.371A>C (p.Asp124Ala) n.429A>C | |
2 | g.206767064A>G | CA350070204 | FASTKD2 | c.371A>G (p.Asp124Gly) n.429A>G | |
2 | g.206767064A>T | CA350070198 | FASTKD2 | c.371A>T (p.Asp124Val) n.429A>T | |
2 | g.206767065T>A | CA350070213 | FASTKD2 | c.372T>A (p.Asp124Glu) n.430T>A | |
2 | g.206767065T>C | CA431115044 | FASTKD2 | c.372T>C (p.Asp124=) n.430T>C | |
2 | g.206767065T>G | CA350070214 | FASTKD2 | c.372T>G (p.Asp124Glu) n.430T>G | |
2 | g.206767066A>C | CA350070217 | FASTKD2 | c.373A>C (p.Lys125Gln) n.431A>C | |
2 | g.206767066A>G | CA350070235 | FASTKD2 | c.373A>G (p.Lys125Glu) n.431A>G | |
2 | g.206767066A>T | CA350070232 | FASTKD2 | c.373A>T (p.Lys125Ter) n.431A>T | |
2 | g.206767067A>C | CA350070240 | FASTKD2 | c.374A>C (p.Lys125Thr) n.432A>C | |
2 | g.206767067A>G | CA350070242 | FASTKD2 | c.374A>G (p.Lys125Arg) n.432A>G | |
2 | g.206767067A>T | CA350070244 | FASTKD2 | c.374A>T (p.Lys125Ile) n.432A>T | |
2 | g.206767068A>C | CA350070247 | FASTKD2 | c.375A>C (p.Lys125Asn) n.433A>C | |
2 | g.206767068A>G | CA431115051 | FASTKD2 | c.375A>G (p.Lys125=) n.433A>G | |
2 | g.206767068A>T | CA350070260 | FASTKD2 | c.375A>T (p.Lys125Asn) n.433A>T | |
2 | g.206767069T>A | CA350070269 | FASTKD2 | c.376T>A (p.Ser126Thr) n.434T>A | |
2 | g.206767069T>C | CA350070273 | FASTKD2 | c.376T>C (p.Ser126Pro) n.434T>C | |
2 | g.206767069T>G | CA350070275 | FASTKD2 | c.376T>G (p.Ser126Ala) n.434T>G | |
2 | g.206767069_206767072delinsTCTG | CA1323320459 | FASTKD2 | c.376_379delinsTCTG (p.Ser126=) n.434_437delinsTCTG | |
2 | g.206767070C>A | CA350070284 | FASTKD2 | c.377C>A (p.Ser126Tyr) n.435C>A | |
2 | g.206767070C>G | CA350070288 | FASTKD2 | c.377C>G (p.Ser126Cys) n.435C>G | |
2 | g.206767070C>T | CA350070290 | FASTKD2 | c.377C>T (p.Ser126Phe) n.435C>T | |
2 | g.206767070_206767072del | CA2074873 | FASTKD2 | c.377_379del (p.Ser126_Asp127delinsTyr) n.435_437del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767071T>A | CA431115057 | FASTKD2 | c.378T>A (p.Ser126=) n.436T>A | |
2 | g.206767071T>C | CA431115059 | FASTKD2 | c.378T>C (p.Ser126=) n.436T>C | |
2 | g.206767071T>G | CA431115060 | FASTKD2 | c.378T>G (p.Ser126=) n.436T>G | |
2 | g.206767077_206767079del | CA2577223887 | FASTKD2 | c.384_386del (p.Asp128del) n.442_444del | gnomAD v4 |
2 | g.206767072G>A | CA350070304 | FASTKD2 | c.379G>A (p.Asp127Asn) n.437G>A | |
2 | g.206767072G>C | CA350070300 | FASTKD2 | c.379G>C (p.Asp127His) n.437G>C | |
2 | g.206767072G>T | CA350070302 | FASTKD2 | c.379G>T (p.Asp127Tyr) n.437G>T | gnomAD v4 |
2 | g.206767073A>C | CA350070309 | FASTKD2 | c.380A>C (p.Asp127Ala) n.438A>C | |
2 | g.206767073A>G | CA350070311 | FASTKD2 | c.380A>G (p.Asp127Gly) n.438A>G | |
2 | g.206767073A>T | CA350070313 | FASTKD2 | c.380A>T (p.Asp127Val) n.438A>T | |
2 | g.206767074T>A | CA350070316 | FASTKD2 | c.381T>A (p.Asp127Glu) n.439T>A | |
2 | g.206767074T>C | CA431115070 | FASTKD2 | c.381T>C (p.Asp127=) n.439T>C | gnomAD v4 |
2 | g.206767074T>G | CA350070321 | FASTKD2 | c.381T>G (p.Asp127Glu) n.439T>G | gnomAD v4 |
2 | g.206767075G>A | CA350070324 | FASTKD2 | c.382G>A (p.Asp128Asn) n.440G>A | |
2 | g.206767075G>C | CA350070327 | FASTKD2 | c.382G>C (p.Asp128His) n.440G>C | |
2 | g.206767075G>T | CA350070330 | FASTKD2 | c.382G>T (p.Asp128Tyr) n.440G>T | |
2 | g.206767076A= | CA1323320460 | FASTKD2 | c.383A= (p.Asp128=) n.441A= | |
2 | g.206767076A>C | CA350070333 | FASTKD2 | c.383A>C (p.Asp128Ala) n.441A>C | gnomAD v4 |
2 | g.206767076A>G | CA350070339 | FASTKD2 | c.383A>G (p.Asp128Gly) n.441A>G | dbSNP |
2 | g.206767076A>T | CA350070345 | FASTKD2 | c.383A>T (p.Asp128Val) n.441A>T | |
2 | g.206767077T>A | CA350070348 | FASTKD2 | c.384T>A (p.Asp128Glu) n.442T>A | |
2 | g.206767077T>C | CA431115076 | FASTKD2 | c.384T>C (p.Asp128=) n.442T>C | |
2 | g.206767077T>G | CA350070352 | FASTKD2 | c.384T>G (p.Asp128Glu) n.442T>G | |
2 | g.206767078G>A | CA2074874 | FASTKD2 | c.385G>A (p.Glu129Lys) n.443G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767078G>C | CA350070357 | FASTKD2 | c.385G>C (p.Glu129Gln) n.443G>C | |
2 | g.206767078G= | CA1323320461 | FASTKD2 | c.385G= (p.Glu129=) n.443G= | |
2 | g.206767078G>T | CA350070360 | FASTKD2 | c.385G>T (p.Glu129Ter) n.443G>T | gnomAD v4 |
2 | g.206767079A>C | CA350070368 | FASTKD2 | c.386A>C (p.Glu129Ala) n.444A>C | |
2 | g.206767079A>G | CA350070376 | FASTKD2 | c.386A>G (p.Glu129Gly) n.444A>G | |
2 | g.206767079A>T | CA350070379 | FASTKD2 | c.386A>T (p.Glu129Val) n.444A>T | |
2 | g.206767080A>C | CA350070382 | FASTKD2 | c.387A>C (p.Glu129Asp) n.445A>C | |
2 | g.206767080A>G | CA431115080 | FASTKD2 | c.387A>G (p.Glu129=) n.445A>G | |
2 | g.206767080A>T | CA350070389 | FASTKD2 | c.387A>T (p.Glu129Asp) n.445A>T | |
2 | g.206767081T>A | CA350070391 | FASTKD2 | c.388T>A (p.Leu130Met) n.446T>A | |
2 | g.206767081T>C | CA431115081 | FASTKD2 | c.388T>C (p.Leu130=) n.446T>C | gnomAD v4 |
2 | g.206767081T>G | CA350070393 | FASTKD2 | c.388T>G (p.Leu130Val) n.446T>G | |
2 | g.206767082T>A | CA350070399 | FASTKD2 | c.389T>A (p.Leu130Ter) n.447T>A | |
2 | g.206767082T>C | CA350070400 | FASTKD2 | c.389T>C (p.Leu130Ser) n.447T>C | gnomAD v4 |
2 | g.206767082T>G | CA350070402 | FASTKD2 | c.389T>G (p.Leu130Trp) n.447T>G |