Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.27173298_27173331del | CA2783315799 | TEK | c.837_870del (p.Phe279LeufsTer?) c.837_870del (p.Phe279LeufsTer16) c.396_429del (p.Phe132LeufsTer16) c.525_558del (p.Phe175LeufsTer16) | |
9 | g.27173326T>A | CA373125773 | TEK | c.865T>A (p.Cys289Ser) c.424T>A (p.Cys142Ser) c.553T>A (p.Cys185Ser) | |
9 | g.27173326T>C | CA373125776 | TEK | c.865T>C (p.Cys289Arg) c.424T>C (p.Cys142Arg) c.553T>C (p.Cys185Arg) | |
9 | g.27173326T>G | CA373125779 | TEK | c.865T>G (p.Cys289Gly) c.424T>G (p.Cys142Gly) c.553T>G (p.Cys185Gly) | |
9 | g.27173327G>A | CA373125785 | TEK | c.866G>A (p.Cys289Tyr) c.425G>A (p.Cys142Tyr) c.554G>A (p.Cys185Tyr) | dbSNP |
9 | g.27173327G>C | CA373125788 | TEK | c.866G>C (p.Cys289Ser) c.425G>C (p.Cys142Ser) c.554G>C (p.Cys185Ser) | |
9 | g.27173327G= | CA1842021738 | TEK | c.866G= (p.Cys289=) c.425G= (p.Cys142=) c.554G= (p.Cys185=) | |
9 | g.27173327G>T | CA373125790 | TEK | c.866G>T (p.Cys289Phe) c.425G>T (p.Cys142Phe) c.554G>T (p.Cys185Phe) | |
9 | g.27173328T>A | CA373125792 | TEK | c.867T>A (p.Cys289Ter) c.426T>A (p.Cys142Ter) c.555T>A (p.Cys185Ter) | |
9 | g.27173328T>C | CA464168718 | TEK | c.867T>C (p.Cys289=) c.426T>C (p.Cys142=) c.555T>C (p.Cys185=) | |
9 | g.27173328T>G | CA373125795 | TEK | c.867T>G (p.Cys289Trp) c.426T>G (p.Cys142Trp) c.555T>G (p.Cys185Trp) | |
9 | g.27173329G>A | CA373125798 | TEK | c.868G>A (p.Ala290Thr) c.427G>A (p.Ala143Thr) c.556G>A (p.Ala186Thr) | |
9 | g.27173329G>C | CA373125802 | TEK | c.868G>C (p.Ala290Pro) c.427G>C (p.Ala143Pro) c.556G>C (p.Ala186Pro) | |
9 | g.27173329G>T | CA373125804 | TEK | c.868G>T (p.Ala290Ser) c.427G>T (p.Ala143Ser) c.556G>T (p.Ala186Ser) | |
9 | g.27173330C>A | CA373125810 | TEK | c.869C>A (p.Ala290Asp) c.428C>A (p.Ala143Asp) c.557C>A (p.Ala186Asp) | |
9 | g.27173330C= | CA1842021742 | TEK | c.869C= (p.Ala290=) c.428C= (p.Ala143=) c.557C= (p.Ala186=) | |
9 | g.27173330C>G | CA373125827 | TEK | c.869C>G (p.Ala290Gly) c.428C>G (p.Ala143Gly) c.557C>G (p.Ala186Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173330C>T | CA373125809 | TEK | c.869C>T (p.Ala290Val) c.428C>T (p.Ala143Val) c.557C>T (p.Ala186Val) | |
9 | g.27173331C>A | CA464168721 | TEK | c.870C>A (p.Ala290=) c.429C>A (p.Ala143=) c.558C>A (p.Ala186=) | |
9 | g.27173331C= | CA1842021749 | TEK | c.870C= (p.Ala290=) c.429C= (p.Ala143=) c.558C= (p.Ala186=) | |
9 | g.27173331C>G | CA464168720 | TEK | c.870C>G (p.Ala290=) c.429C>G (p.Ala143=) c.558C>G (p.Ala186=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.27173331C>T | CA5016035 | TEK | c.870C>T (p.Ala290=) c.429C>T (p.Ala143=) c.558C>T (p.Ala186=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173332A>C | CA373125843 | TEK | c.871A>C (p.Thr291Pro) c.430A>C (p.Thr144Pro) c.559A>C (p.Thr187Pro) | |
9 | g.27173332A>G | CA373125836 | TEK | c.871A>G (p.Thr291Ala) c.430A>G (p.Thr144Ala) c.559A>G (p.Thr187Ala) | |
9 | g.27173332A>T | CA373125839 | TEK | c.871A>T (p.Thr291Ser) c.430A>T (p.Thr144Ser) c.559A>T (p.Thr187Ser) | |
9 | g.27173333C>A | CA373125849 | TEK | c.872C>A (p.Thr291Lys) c.431C>A (p.Thr144Lys) c.560C>A (p.Thr187Lys) | |
9 | g.27173333C>G | CA373125850 | TEK | c.872C>G (p.Thr291Arg) c.431C>G (p.Thr144Arg) c.560C>G (p.Thr187Arg) | |
9 | g.27173333C>T | CA373125853 | TEK | c.872C>T (p.Thr291Ile) c.431C>T (p.Thr144Ile) c.560C>T (p.Thr187Ile) | gnomAD v4 |
9 | g.27173334A= | CA1842021754 | TEK | c.873A= (p.Thr291=) c.432A= (p.Thr144=) c.561A= (p.Thr187=) | |
9 | g.27173334A>C | CA464168725 | TEK | c.873A>C (p.Thr291=) c.432A>C (p.Thr144=) c.561A>C (p.Thr187=) | |
9 | g.27173334A>G | CA464168724 | TEK | c.873A>G (p.Thr291=) c.432A>G (p.Thr144=) c.561A>G (p.Thr187=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173334A>T | CA464168723 | TEK | c.873A>T (p.Thr291=) c.432A>T (p.Thr144=) c.561A>T (p.Thr187=) | |
9 | g.27173335G>A | CA373125854 | TEK | c.874G>A (p.Gly292Ser) c.433G>A (p.Gly145Ser) c.562G>A (p.Gly188Ser) | COSMIC COSMIC |
9 | g.27173335G>C | CA373125855 | TEK | c.874G>C (p.Gly292Arg) c.433G>C (p.Gly145Arg) c.562G>C (p.Gly188Arg) | |
9 | g.27173335G>T | CA373125856 | TEK | c.874G>T (p.Gly292Cys) c.433G>T (p.Gly145Cys) c.562G>T (p.Gly188Cys) | |
9 | g.27173336G>A | CA373125858 | TEK | c.875G>A (p.Gly292Asp) c.434G>A (p.Gly145Asp) c.563G>A (p.Gly188Asp) | |
9 | g.27173336G>C | CA373125860 | TEK | c.875G>C (p.Gly292Ala) c.434G>C (p.Gly145Ala) c.563G>C (p.Gly188Ala) | |
9 | g.27173336G>T | CA373125862 | TEK | c.875G>T (p.Gly292Val) c.434G>T (p.Gly145Val) c.563G>T (p.Gly188Val) | |
9 | g.27173337C>A | CA464168727 | TEK | c.876C>A (p.Gly292=) c.435C>A (p.Gly145=) c.564C>A (p.Gly188=) | |
9 | g.27173337C= | CA1842021757 | TEK | c.876C= (p.Gly292=) c.435C= (p.Gly145=) c.564C= (p.Gly188=) | |
9 | g.27173337C>G | CA464168729 | TEK | c.876C>G (p.Gly292=) c.435C>G (p.Gly145=) c.564C>G (p.Gly188=) | |
9 | g.27173337C>T | CA464168728 | TEK | c.876C>T (p.Gly292=) c.435C>T (p.Gly145=) c.564C>T (p.Gly188=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173338T>A | CA373125868 | TEK | c.877T>A (p.Trp293Arg) c.436T>A (p.Trp146Arg) c.565T>A (p.Trp189Arg) | |
9 | g.27173338T>C | CA373125867 | TEK | c.877T>C (p.Trp293Arg) c.436T>C (p.Trp146Arg) c.565T>C (p.Trp189Arg) | |
9 | g.27173338T>G | CA373125866 | TEK | c.877T>G (p.Trp293Gly) c.436T>G (p.Trp146Gly) c.565T>G (p.Trp189Gly) | |
9 | g.27173339G>A | CA373125869 | TEK | c.878G>A (p.Trp293Ter) c.437G>A (p.Trp146Ter) c.566G>A (p.Trp189Ter) | |
9 | g.27173339G>C | CA373125871 | TEK | c.878G>C (p.Trp293Ser) c.437G>C (p.Trp146Ser) c.566G>C (p.Trp189Ser) | |
9 | g.27173339G>T | CA373125873 | TEK | c.878G>T (p.Trp293Leu) c.437G>T (p.Trp146Leu) c.566G>T (p.Trp189Leu) | |
9 | g.27173340G>A | CA373125876 | TEK | c.879G>A (p.Trp293Ter) c.438G>A (p.Trp146Ter) c.567G>A (p.Trp189Ter) | |
9 | g.27173340G>C | CA373125879 | TEK | c.879G>C (p.Trp293Cys) c.438G>C (p.Trp146Cys) c.567G>C (p.Trp189Cys) | |
9 | g.27173340G>T | CA373125882 | TEK | c.879G>T (p.Trp293Cys) c.438G>T (p.Trp146Cys) c.567G>T (p.Trp189Cys) | |
9 | g.27173340_27173342delinsGAA | CA1842021763 | TEK | c.879_881delinsGAA (p.Trp293=) c.438_440delinsGAA (p.Trp146=) c.567_569delinsGAA (p.Trp189=) | |
9 | g.27173341A= | CA1842021775 | TEK | c.880A= (p.Lys294=) c.439A= (p.Lys147=) c.568A= (p.Lys190=) | |
9 | g.27173341A>C | CA5016037 | TEK | c.880A>C (p.Lys294Gln) c.439A>C (p.Lys147Gln) c.568A>C (p.Lys190Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173341A>G | CA5016036 | TEK | c.880A>G (p.Lys294Glu) c.439A>G (p.Lys147Glu) c.568A>G (p.Lys190Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27173341A>T | CA373125897 | TEK | c.880A>T (p.Lys294Ter) c.439A>T (p.Lys147Ter) c.568A>T (p.Lys190Ter) | |
9 | g.27173341_27173342del | CA587124070 | TEK | c.880_881del (p.Lys294GlyfsTer6) c.439_440del (p.Lys147GlyfsTer6) c.568_569del (p.Lys190GlyfsTer6) | dbSNP gnomAD v2 |
9 | g.27173342A= | CA1842021783 | TEK | c.881A= (p.Lys294=) c.440A= (p.Lys147=) c.569A= (p.Lys190=) | |
9 | g.27173342A>C | CA373125901 | TEK | c.881A>C (p.Lys294Thr) c.440A>C (p.Lys147Thr) c.569A>C (p.Lys190Thr) | gnomAD v4 |
9 | g.27173342A>G | CA5016038 | TEK | c.881A>G (p.Lys294Arg) c.440A>G (p.Lys147Arg) c.569A>G (p.Lys190Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173342A>T | CA373125911 | TEK | c.881A>T (p.Lys294Met) c.440A>T (p.Lys147Met) c.569A>T (p.Lys190Met) | |
9 | g.27173343G>A | CA464168734 | TEK | c.882G>A (p.Lys294=) c.441G>A (p.Lys147=) c.570G>A (p.Lys190=) | |
9 | g.27173343G>C | CA5016039 | TEK | c.882G>C (p.Lys294Asn) c.441G>C (p.Lys147Asn) c.570G>C (p.Lys190Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173343G= | CA1842021787 | TEK | c.882G= (p.Lys294=) c.441G= (p.Lys147=) c.570G= (p.Lys190=) | |
9 | g.27173343G>T | CA373125915 | TEK | c.882G>T (p.Lys294Asn) c.441G>T (p.Lys147Asn) c.570G>T (p.Lys190Asn) | |
9 | g.27173344G>A | CA373125922 | TEK | c.883G>A (p.Gly295Ser) c.442G>A (p.Gly148Ser) c.571G>A (p.Gly191Ser) | |
9 | g.27173344G>C | CA373125928 | TEK | c.883G>C (p.Gly295Arg) c.442G>C (p.Gly148Arg) c.571G>C (p.Gly191Arg) | gnomAD v4 |
9 | g.27173344G>T | CA373125931 | TEK | c.883G>T (p.Gly295Cys) c.442G>T (p.Gly148Cys) c.571G>T (p.Gly191Cys) | COSMIC COSMIC |
9 | g.27173345G>A | CA373125937 | TEK | c.884G>A (p.Gly295Asp) c.443G>A (p.Gly148Asp) c.572G>A (p.Gly191Asp) | gnomAD v4 |
9 | g.27173345G>C | CA373125944 | TEK | c.884G>C (p.Gly295Ala) c.443G>C (p.Gly148Ala) c.572G>C (p.Gly191Ala) | |
9 | g.27173345G>T | CA373125946 | TEK | c.884G>T (p.Gly295Val) c.443G>T (p.Gly148Val) c.572G>T (p.Gly191Val) | |
9 | g.27173346T>A | CA464168736 | TEK | c.885T>A (p.Gly295=) c.444T>A (p.Gly148=) c.573T>A (p.Gly191=) | |
9 | g.27173346T>C | CA464168737 | TEK | c.885T>C (p.Gly295=) c.444T>C (p.Gly148=) c.573T>C (p.Gly191=) | |
9 | g.27173346T>G | CA5016040 | TEK | c.885T>G (p.Gly295=) c.444T>G (p.Gly148=) c.573T>G (p.Gly191=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27173346T= | CA1842021795 | TEK | c.885T= (p.Gly295=) c.444T= (p.Gly148=) c.573T= (p.Gly191=) | |
9 | g.27173347C>A | CA373125954 | TEK | c.886C>A (p.Leu296Met) c.445C>A (p.Leu149Met) c.574C>A (p.Leu192Met) | |
9 | g.27173347C= | CA1842021799 | TEK | c.886C= (p.Leu296=) c.445C= (p.Leu149=) c.574C= (p.Leu192=) | |
9 | g.27173347C>G | CA373125958 | TEK | c.886C>G (p.Leu296Val) c.445C>G (p.Leu149Val) c.574C>G (p.Leu192Val) | dbSNP gnomAD v2 |
9 | g.27173347C>T | CA464168738 | TEK | c.886C>T (p.Leu296=) c.445C>T (p.Leu149=) c.574C>T (p.Leu192=) | |
9 | g.27173348T>A | CA373125977 | TEK | c.887T>A (p.Leu296Gln) c.446T>A (p.Leu149Gln) c.575T>A (p.Leu192Gln) | |
9 | g.27173348T>C | CA373125982 | TEK | c.887T>C (p.Leu296Pro) c.446T>C (p.Leu149Pro) c.575T>C (p.Leu192Pro) | |
9 | g.27173348T>G | CA373125985 | TEK | c.887T>G (p.Leu296Arg) c.446T>G (p.Leu149Arg) c.575T>G (p.Leu192Arg) | |
9 | g.27173349G>A | CA464168740 | TEK | c.888G>A (p.Leu296=) c.447G>A (p.Leu149=) c.576G>A (p.Leu192=) | |
9 | g.27173349G>C | CA464168741 | TEK | c.888G>C (p.Leu296=) c.447G>C (p.Leu149=) c.576G>C (p.Leu192=) | |
9 | g.27173349G>T | CA464168742 | TEK | c.888G>T (p.Leu296=) c.447G>T (p.Leu149=) c.576G>T (p.Leu192=) | |
9 | g.27173350C>A | CA373125996 | TEK | c.889C>A (p.Gln297Lys) c.448C>A (p.Gln150Lys) c.577C>A (p.Gln193Lys) | |
9 | g.27173350C>G | CA373125999 | TEK | c.889C>G (p.Gln297Glu) c.448C>G (p.Gln150Glu) c.577C>G (p.Gln193Glu) | |
9 | g.27173350C>T | CA373125990 | TEK | c.889C>T (p.Gln297Ter) c.448C>T (p.Gln150Ter) c.577C>T (p.Gln193Ter) | |
9 | g.27173351A>C | CA373126000 | TEK | c.890A>C (p.Gln297Pro) c.449A>C (p.Gln150Pro) c.578A>C (p.Gln193Pro) | |
9 | g.27173351A>G | CA373126001 | TEK | c.890A>G (p.Gln297Arg) c.449A>G (p.Gln150Arg) c.578A>G (p.Gln193Arg) | |
9 | g.27173351A>T | CA373126002 | TEK | c.890A>T (p.Gln297Leu) c.449A>T (p.Gln150Leu) c.578A>T (p.Gln193Leu) | |
9 | g.27173352G>A | CA464168744 | TEK | c.891G>A (p.Gln297=) c.450G>A (p.Gln150=) c.579G>A (p.Gln193=) | |
9 | g.27173352G>C | CA373126005 | TEK | c.891G>C (p.Gln297His) c.450G>C (p.Gln150His) c.579G>C (p.Gln193His) | |
9 | g.27173352G>T | CA373126007 | TEK | c.891G>T (p.Gln297His) c.450G>T (p.Gln150His) c.579G>T (p.Gln193His) | |
9 | g.27173353T>A | CA373126022 | TEK | c.892T>A (p.Cys298Ser) c.451T>A (p.Cys151Ser) c.580T>A (p.Cys194Ser) | |
9 | g.27173353T>C | CA373126019 | TEK | c.892T>C (p.Cys298Arg) c.451T>C (p.Cys151Arg) c.580T>C (p.Cys194Arg) | |
9 | g.27173353T>G | CA373126020 | TEK | c.892T>G (p.Cys298Gly) c.451T>G (p.Cys151Gly) c.580T>G (p.Cys194Gly) | |
9 | g.27173354G>A | CA373126023 | TEK | c.893G>A (p.Cys298Tyr) c.452G>A (p.Cys151Tyr) c.581G>A (p.Cys194Tyr) | COSMIC COSMIC |
9 | g.27173354G>C | CA373126027 | TEK | c.893G>C (p.Cys298Ser) c.452G>C (p.Cys151Ser) c.581G>C (p.Cys194Ser) | |
9 | g.27173354G>T | CA373126032 | TEK | c.893G>T (p.Cys298Phe) c.452G>T (p.Cys151Phe) c.581G>T (p.Cys194Phe) | |
9 | g.27173355C>A | CA373126035 | TEK | c.894C>A (p.Cys298Ter) c.453C>A (p.Cys151Ter) c.582C>A (p.Cys194Ter) | |
9 | g.27173355C= | CA1842021804 | TEK | c.894C= (p.Cys298=) c.453C= (p.Cys151=) c.582C= (p.Cys194=) | |
9 | g.27173355C>G | CA373126040 | TEK | c.894C>G (p.Cys298Trp) c.453C>G (p.Cys151Trp) c.582C>G (p.Cys194Trp) | |
9 | g.27173355C>T | CA464168748 | TEK | c.894C>T (p.Cys298=) c.453C>T (p.Cys151=) c.582C>T (p.Cys194=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27173356A= | CA1842021808 | TEK | c.895A= (p.Asn299=) c.454A= (p.Asn152=) c.583A= (p.Asn195=) | |
9 | g.27173356A>C | CA373126072 | TEK | c.895A>C (p.Asn299His) c.454A>C (p.Asn152His) c.583A>C (p.Asn195His) | |
9 | g.27173356A>G | CA5016041 | TEK | c.895A>G (p.Asn299Asp) c.454A>G (p.Asn152Asp) c.583A>G (p.Asn195Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27173356A>T | CA373126050 | TEK | c.895A>T (p.Asn299Tyr) c.454A>T (p.Asn152Tyr) c.583A>T (p.Asn195Tyr) | |
9 | g.27173357A= | CA1842021812 | TEK | c.896A= (p.Asn299=) c.455A= (p.Asn152=) c.584A= (p.Asn195=) | |
9 | g.27173357A>C | CA373126077 | TEK | c.896A>C (p.Asn299Thr) c.455A>C (p.Asn152Thr) c.584A>C (p.Asn195Thr) | |
9 | g.27173357A>G | CA373126083 | TEK | c.896A>G (p.Asn299Ser) c.455A>G (p.Asn152Ser) c.584A>G (p.Asn195Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173357A>T | CA373126081 | TEK | c.896A>T (p.Asn299Ile) c.455A>T (p.Asn152Ile) c.584A>T (p.Asn195Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173358T>A | CA373126088 | TEK | c.897T>A (p.Asn299Lys) c.456T>A (p.Asn152Lys) c.585T>A (p.Asn195Lys) | |
9 | g.27173358T>C | CA464168751 | TEK | c.897T>C (p.Asn299=) c.456T>C (p.Asn152=) c.585T>C (p.Asn195=) | |
9 | g.27173358T>G | CA373126099 | TEK | c.897T>G (p.Asn299Lys) c.456T>G (p.Asn152Lys) c.585T>G (p.Asn195Lys) | |
9 | g.27173359G>A | CA191326101 | TEK | c.898G>A (p.Glu300Lys) c.457G>A (p.Glu153Lys) c.586G>A (p.Glu196Lys) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.27173359G>C | CA373126104 | TEK | c.898G>C (p.Glu300Gln) c.457G>C (p.Glu153Gln) c.586G>C (p.Glu196Gln) | |
9 | g.27173359G= | CA1842021818 | TEK | c.898G= (p.Glu300=) c.457G= (p.Glu153=) c.586G= (p.Glu196=) | |
9 | g.27173359G>T | CA373126106 | TEK | c.898G>T (p.Glu300Ter) c.457G>T (p.Glu153Ter) c.586G>T (p.Glu196Ter) | |
9 | g.27173360A>C | CA373126675 | TEK | c.899A>C (p.Glu300Ala) c.458A>C (p.Glu153Ala) c.587A>C (p.Glu196Ala) | |
9 | g.27173360A>G | CA373126678 | TEK | c.899A>G (p.Glu300Gly) c.458A>G (p.Glu153Gly) c.587A>G (p.Glu196Gly) | gnomAD v4 |
9 | g.27173360A>T | CA373126679 | TEK | c.899A>T (p.Glu300Val) c.458A>T (p.Glu153Val) c.587A>T (p.Glu196Val) | |
9 | g.27173361A>C | CA373126685 | TEK | c.900A>C (p.Glu300Asp) c.459A>C (p.Glu153Asp) c.588A>C (p.Glu196Asp) | |
9 | g.27173361A>G | CA464168850 | TEK | c.900A>G (p.Glu300=) c.459A>G (p.Glu153=) c.588A>G (p.Glu196=) | |
9 | g.27173361A>T | CA373126686 | TEK | c.900A>T (p.Glu300Asp) c.459A>T (p.Glu153Asp) c.588A>T (p.Glu196Asp) | |
9 | g.27173362G>A | CA373126690 | TEK | c.901G>A (p.Ala301Thr) c.901G>A (p.Gly301Ser) c.460G>A (p.Gly154Ser) c.589G>A (p.Gly197Ser) | |
9 | g.27173362G>C | CA373126692 | TEK | c.901G>C (p.Ala301Pro) c.901G>C (p.Gly301Arg) c.460G>C (p.Gly154Arg) c.589G>C (p.Gly197Arg) | |
9 | g.27173362G>T | CA373126694 | TEK | c.901G>T (p.Ala301Ser) c.901G>T (p.Gly301Cys) c.460G>T (p.Gly154Cys) c.589G>T (p.Gly197Cys) | |
9 | g.27173363G>A | CA373126701 | TEK | c.901+1G>A (n.901+1G>A) c.460+1G>A (n.460+1G>A) c.589+1G>A (n.589+1G>A) | |
9 | g.27173363G>C | CA373126699 | TEK | c.901+1G>C (n.901+1G>C) c.460+1G>C (n.460+1G>C) c.589+1G>C (n.589+1G>C) | |
9 | g.27173363G>T | CA373126697 | TEK | c.901+1G>T (n.901+1G>T) c.460+1G>T (n.460+1G>T) c.589+1G>T (n.589+1G>T) | |
9 | g.27173364T>A | CA373126705 | TEK | c.901+2T>A (n.901+2T>A) c.460+2T>A (n.460+2T>A) c.589+2T>A (n.589+2T>A) | |
9 | g.27173364T>C | CA373126707 | TEK | c.901+2T>C (n.901+2T>C) c.460+2T>C (n.460+2T>C) c.589+2T>C (n.589+2T>C) | |
9 | g.27173364T>G | CA373126711 | TEK | c.901+2T>G (n.901+2T>G) c.460+2T>G (n.460+2T>G) c.589+2T>G (n.589+2T>G) | |
9 | g.27173365A>G | CA2689641475 | TEK | c.901+3A>G (n.901+3A>G) c.460+3A>G (n.460+3A>G) c.589+3A>G (n.589+3A>G) | gnomAD v4 |
9 | g.27173366T>C | CA1842021824 | TEK | c.901+4T>C (n.901+4T>C) c.460+4T>C (n.460+4T>C) c.589+4T>C (n.589+4T>C) | dbSNP gnomAD v4 |
9 | g.27173366T>G | CA5016042 | TEK | c.901+4T>G (n.901+4T>G) c.460+4T>G (n.460+4T>G) c.589+4T>G (n.589+4T>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
9 | g.27173366T= | CA1842021821 | TEK | c.901+4T= (n.901+4T=) c.460+4T= (n.460+4T=) c.589+4T= (n.589+4T=) | |
9 | g.27173367G>A | CA5016043 | TEK | c.901+5G>A (n.901+5G>A) c.460+5G>A (n.460+5G>A) c.589+5G>A (n.589+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173367G= | CA1842021828 | TEK | c.901+5G= (n.901+5G=) c.460+5G= (n.460+5G=) c.589+5G= (n.589+5G=) | |
9 | g.27173368C= | CA1842021830 | TEK | c.901+6C= (n.901+6C=) c.460+6C= (n.460+6C=) c.589+6C= (n.589+6C=) | |
9 | g.27173368C>T | CA1842021831 | TEK | c.901+6C>T (n.901+6C>T) c.460+6C>T (n.460+6C>T) c.589+6C>T (n.589+6C>T) | dbSNP gnomAD v4 |
9 | g.27173373A= | CA1842021836 | TEK | c.901+11A= (n.901+11A=) c.460+11A= (n.460+11A=) c.589+11A= (n.589+11A=) | |
9 | g.27173373A>G | CA1842021834 | TEK | c.901+11A>G (n.901+11A>G) c.460+11A>G (n.460+11A>G) c.589+11A>G (n.589+11A>G) | dbSNP |
9 | g.27173373A>T | CA191326105 | TEK | c.901+11A>T (n.901+11A>T) c.460+11A>T (n.460+11A>T) c.589+11A>T (n.589+11A>T) | dbSNP |
9 | g.27173374T>A | CA2783315809 | TEK | c.901+12T>A (n.901+12T>A) c.460+12T>A (n.460+12T>A) c.589+12T>A (n.589+12T>A) | |
9 | g.27173374T>C | CA2783315811 | TEK | c.901+12T>C (n.901+12T>C) c.460+12T>C (n.460+12T>C) c.589+12T>C (n.589+12T>C) | |
9 | g.27173375C>G | CA2689641476 | TEK | c.901+13C>G (n.901+13C>G) c.460+13C>G (n.460+13C>G) c.589+13C>G (n.589+13C>G) | gnomAD v4 |
9 | g.27173377C>G | CA2579318898 | TEK | c.901+15C>G (n.901+15C>G) c.460+15C>G (n.460+15C>G) c.589+15C>G (n.589+15C>G) | |
9 | g.27173377C>T | CA2689641477 | TEK | c.901+15C>T (n.901+15C>T) c.460+15C>T (n.460+15C>T) c.589+15C>T (n.589+15C>T) | gnomAD v4 |
9 | g.27173379C>A | CA862769477 | TEK | c.901+17C>A (n.901+17C>A) c.460+17C>A (n.460+17C>A) c.589+17C>A (n.589+17C>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27173379C= | CA1842021838 | TEK | c.901+17C= (n.901+17C=) c.460+17C= (n.460+17C=) c.589+17C= (n.589+17C=) | |
9 | g.27173379C>G | CA5016044 | TEK | c.901+17C>G (n.901+17C>G) c.460+17C>G (n.460+17C>G) c.589+17C>G (n.589+17C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27173379C>T | CA2689641479 | TEK | c.901+17C>T (n.901+17C>T) c.460+17C>T (n.460+17C>T) c.589+17C>T (n.589+17C>T) | gnomAD v4 |
9 | g.27173381del | CA2689641478 | TEK | c.901+19del (n.901+19del) c.460+19del (n.460+19del) c.589+19del (n.589+19del) | gnomAD v4 |
9 | g.27173380C>A | CA5016045 | TEK | c.901+18C>A (n.901+18C>A) c.460+18C>A (n.460+18C>A) c.589+18C>A (n.589+18C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173380C= | CA1842021842 | TEK | c.901+18C= (n.901+18C=) c.460+18C= (n.460+18C=) c.589+18C= (n.589+18C=) | |
9 | g.27173380C>T | CA2579318899 | TEK | c.901+18C>T (n.901+18C>T) c.460+18C>T (n.460+18C>T) c.589+18C>T (n.589+18C>T) | |
9 | g.27173381C>A | CA2579318900 | TEK | c.901+19C>A (n.901+19C>A) c.460+19C>A (n.460+19C>A) c.589+19C>A (n.589+19C>A) | |
9 | g.27173381C= | CA1842021845 | TEK | c.901+19C= (n.901+19C=) c.460+19C= (n.460+19C=) c.589+19C= (n.589+19C=) | |
9 | g.27173381C>G | CA587124084 | TEK | c.901+19C>G (n.901+19C>G) c.460+19C>G (n.460+19C>G) c.589+19C>G (n.589+19C>G) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.27173381C>T | CA2689641480 | TEK | c.901+19C>T (n.901+19C>T) c.460+19C>T (n.460+19C>T) c.589+19C>T (n.589+19C>T) | gnomAD v4 |
9 | g.27173381_27173382delinsCT | CA1842021846 | TEK | c.901+19_901+20delinsCT (n.901+19_901+20delinsCT) c.460+19_460+20delinsCT (n.460+19_460+20delinsCT) c.589+19_589+20delinsCT (n.589+19_589+20delinsCT) | |
9 | g.27173382T>C | CA2689641481 | TEK | c.901+20T>C (n.901+20T>C) c.460+20T>C (n.460+20T>C) c.589+20T>C (n.589+20T>C) | gnomAD v4 |
9 | g.27173383del | CA191326111 | TEK | c.901+21del (n.901+21del) c.460+21del (n.460+21del) c.589+21del (n.589+21del) | dbSNP |
9 | g.27173382_27173384del | CA2783315814 | TEK | c.901+20_901+22del (n.901+20_901+22del) c.460+20_460+22del (n.460+20_460+22del) c.589+20_589+22del (n.589+20_589+22del) | |
9 | g.27173383T>C | CA1842021847 | TEK | c.901+21T>C (n.901+21T>C) c.460+21T>C (n.460+21T>C) c.589+21T>C (n.589+21T>C) | dbSNP |
9 | g.27173383T= | CA1842021849 | TEK | c.901+21T= (n.901+21T=) c.460+21T= (n.460+21T=) c.589+21T= (n.589+21T=) | |
9 | g.27173385G>A | CA2689641482 | TEK | c.901+23G>A (n.901+23G>A) c.460+23G>A (n.460+23G>A) c.589+23G>A (n.589+23G>A) | gnomAD v4 |
9 | g.27173386A= | CA1842021851 | TEK | c.901+24A= (n.901+24A=) c.460+24A= (n.460+24A=) c.589+24A= (n.589+24A=) | |
9 | g.27173386A>G | CA5016046 | TEK | c.901+24A>G (n.901+24A>G) c.460+24A>G (n.460+24A>G) c.589+24A>G (n.589+24A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173387C= | CA1842021854 | TEK | c.901+25C= (n.901+25C=) c.460+25C= (n.460+25C=) c.589+25C= (n.589+25C=) | |
9 | g.27173387C>G | CA587124085 | TEK | c.901+25C>G (n.901+25C>G) c.460+25C>G (n.460+25C>G) c.589+25C>G (n.589+25C>G) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.27173387C>T | CA2579318901 | TEK | c.901+25C>T (n.901+25C>T) c.460+25C>T (n.460+25C>T) c.589+25C>T (n.589+25C>T) | |
9 | g.27173389G>A | CA5016047 | TEK | c.901+27G>A (n.901+27G>A) c.460+27G>A (n.460+27G>A) c.589+27G>A (n.589+27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173389G>C | CA2689641484 | TEK | c.901+27G>C (n.901+27G>C) c.460+27G>C (n.460+27G>C) c.589+27G>C (n.589+27G>C) | gnomAD v4 |
9 | g.27173389G= | CA1842021856 | TEK | c.901+27G= (n.901+27G=) c.460+27G= (n.460+27G=) c.589+27G= (n.589+27G=) | |
9 | g.27173389G>T | CA2689641483 | TEK | c.901+27G>T (n.901+27G>T) c.460+27G>T (n.460+27G>T) c.589+27G>T (n.589+27G>T) | gnomAD v4 |
9 | g.27173391G>A | CA2719042680 | TEK | c.901+29G>A (n.901+29G>A) c.460+29G>A (n.460+29G>A) c.589+29G>A (n.589+29G>A) | dbSNP |
9 | g.27173391_27173394delinsGGAT | CA1842021859 | TEK | c.901+29_901+32delinsGGAT (n.901+29_901+32delinsGGAT) c.460+29_460+32delinsGGAT (n.460+29_460+32delinsGGAT) c.589+29_589+32delinsGGAT (n.589+29_589+32delinsGGAT) | |
9 | g.27173392G>A | CA2719042821 | TEK | c.901+30G>A (n.901+30G>A) c.460+30G>A (n.460+30G>A) c.589+30G>A (n.589+30G>A) | dbSNP |
9 | g.27173393_27173395del | CA1842021860 | TEK | c.901+31_901+33del (n.901+31_901+33del) c.460+31_460+33del (n.460+31_460+33del) c.589+31_589+33del (n.589+31_589+33del) | dbSNP |
9 | g.27173393A>T | CA2689641485 | TEK | c.901+31A>T (n.901+31A>T) c.460+31A>T (n.460+31A>T) c.589+31A>T (n.589+31A>T) | gnomAD v4 |
9 | g.27173395G>A | CA862769480 | TEK | c.901+33G>A (n.901+33G>A) c.460+33G>A (n.460+33G>A) c.589+33G>A (n.589+33G>A) | dbSNP gnomAD v4 |
9 | g.27173395G= | CA1842021864 | TEK | c.901+33G= (n.901+33G=) c.460+33G= (n.460+33G=) c.589+33G= (n.589+33G=) | |
9 | g.27173396T>C | CA5016048 | TEK | c.901+34T>C (n.901+34T>C) c.460+34T>C (n.460+34T>C) c.589+34T>C (n.589+34T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173396T= | CA1842021866 | TEK | c.901+34T= (n.901+34T=) c.460+34T= (n.460+34T=) c.589+34T= (n.589+34T=) | |
9 | g.27173398C>A | CA2551023607 | TEK | c.901+36C>A (n.901+36C>A) c.460+36C>A (n.460+36C>A) c.589+36C>A (n.589+36C>A) | |
9 | g.27173398C= | CA1842021869 | TEK | c.901+36C= (n.901+36C=) c.460+36C= (n.460+36C=) c.589+36C= (n.589+36C=) | |
9 | g.27173398C>G | CA2689641486 | TEK | c.901+36C>G (n.901+36C>G) c.460+36C>G (n.460+36C>G) c.589+36C>G (n.589+36C>G) | gnomAD v4 |
9 | g.27173398C>T | CA587124086 | TEK | c.901+36C>T (n.901+36C>T) c.460+36C>T (n.460+36C>T) c.589+36C>T (n.589+36C>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.27173399T>A | CA1842021871 | TEK | c.901+37T>A (n.901+37T>A) c.460+37T>A (n.460+37T>A) c.589+37T>A (n.589+37T>A) | dbSNP |
9 | g.27173399T= | CA1842021872 | TEK | c.901+37T= (n.901+37T=) c.460+37T= (n.460+37T=) c.589+37T= (n.589+37T=) | |
9 | g.27173400A= | CA1842021876 | TEK | c.901+38A= (n.901+38A=) c.460+38A= (n.460+38A=) c.589+38A= (n.589+38A=) | |
9 | g.27173400A>G | CA587124087 | TEK | c.901+38A>G (n.901+38A>G) c.460+38A>G (n.460+38A>G) c.589+38A>G (n.589+38A>G) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.27173401G>A | CA5016049 | TEK | c.901+39G>A (n.901+39G>A) c.460+39G>A (n.460+39G>A) c.589+39G>A (n.589+39G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173401G= | CA1842021882 | TEK | c.901+39G= (n.901+39G=) c.460+39G= (n.460+39G=) c.589+39G= (n.589+39G=) | |
9 | g.27173402C= | CA1842021889 | TEK | c.901+40C= (n.901+40C=) c.460+40C= (n.460+40C=) c.589+40C= (n.589+40C=) | |
9 | g.27173402C>G | CA191326125 | TEK | c.901+40C>G (n.901+40C>G) c.460+40C>G (n.460+40C>G) c.589+40C>G (n.589+40C>G) | dbSNP |
9 | g.27173402C>T | CA5016050 | TEK | c.901+40C>T (n.901+40C>T) c.460+40C>T (n.460+40C>T) c.589+40C>T (n.589+40C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173405G>A | CA2689641487 | TEK | c.901+43G>A (n.901+43G>A) c.460+43G>A (n.460+43G>A) c.589+43G>A (n.589+43G>A) | gnomAD v4 |
9 | g.27173405G>C | CA2689641488 | TEK | c.901+43G>C (n.901+43G>C) c.460+43G>C (n.460+43G>C) c.589+43G>C (n.589+43G>C) | gnomAD v4 |
9 | g.27173405G= | CA1842021903 | TEK | c.901+43G= (n.901+43G=) c.460+43G= (n.460+43G=) c.589+43G= (n.589+43G=) | |
9 | g.27173405G>T | CA587124088 | TEK | c.901+43G>T (n.901+43G>T) c.460+43G>T (n.460+43G>T) c.589+43G>T (n.589+43G>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.27173406T>C | CA1842021908 | TEK | c.901+44T>C (n.901+44T>C) c.460+44T>C (n.460+44T>C) c.589+44T>C (n.589+44T>C) | dbSNP |
9 | g.27173406T>G | CA2689641489 | TEK | c.901+44T>G (n.901+44T>G) c.460+44T>G (n.460+44T>G) c.589+44T>G (n.589+44T>G) | gnomAD v4 |
9 | g.27173406T= | CA1842021907 | TEK | c.901+44T= (n.901+44T=) c.460+44T= (n.460+44T=) c.589+44T= (n.589+44T=) | |
9 | g.27173407A= | CA1842021910 | TEK | c.901+45A= (n.901+45A=) c.460+45A= (n.460+45A=) c.589+45A= (n.589+45A=) | |
9 | g.27173407A>G | CA1842021911 | TEK | c.901+45A>G (n.901+45A>G) c.460+45A>G (n.460+45A>G) c.589+45A>G (n.589+45A>G) | dbSNP |
9 | g.27173408T>G | CA2689641490 | TEK | c.901+46T>G (n.901+46T>G) c.460+46T>G (n.460+46T>G) c.589+46T>G (n.589+46T>G) | gnomAD v4 |
9 | g.27173409A>G | CA2579318902 | TEK | c.901+47A>G (n.901+47A>G) c.460+47A>G (n.460+47A>G) c.589+47A>G (n.589+47A>G) | |
9 | g.27173410T>A | CA191326129 | TEK | c.901+48T>A (n.901+48T>A) c.460+48T>A (n.460+48T>A) c.589+48T>A (n.589+48T>A) | dbSNP gnomAD v4 |
9 | g.27173410T= | CA1842021914 | TEK | c.901+48T= (n.901+48T=) c.460+48T= (n.460+48T=) c.589+48T= (n.589+48T=) | |
9 | g.27173412A>G | CA2689641491 | TEK | c.901+50A>G (n.901+50A>G) c.460+50A>G (n.460+50A>G) c.589+50A>G (n.589+50A>G) | gnomAD v4 |
9 | g.27173414G>A | CA5016051 | TEK | c.901+52G>A (n.901+52G>A) c.460+52G>A (n.460+52G>A) c.589+52G>A (n.589+52G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27173414G= | CA1842021918 | TEK | c.901+52G= (n.901+52G=) c.460+52G= (n.460+52G=) c.589+52G= (n.589+52G=) | |
9 | g.27173415G>A | CA2689641492 | TEK | c.901+53G>A (n.901+53G>A) c.460+53G>A (n.460+53G>A) c.589+53G>A (n.589+53G>A) | gnomAD v4 |
9 | g.27173415G>C | CA1842021924 | TEK | c.901+53G>C (n.901+53G>C) c.460+53G>C (n.460+53G>C) c.589+53G>C (n.589+53G>C) | dbSNP |
9 | g.27173415G= | CA1842021922 | TEK | c.901+53G= (n.901+53G=) c.460+53G= (n.460+53G=) c.589+53G= (n.589+53G=) | |
9 | g.27173416del | CA2689641493 | TEK | c.901+54del (n.901+54del) c.460+54del (n.460+54del) c.589+54del (n.589+54del) | gnomAD v4 |
9 | g.27173416A= | CA1842021926 | TEK | c.901+54A= (n.901+54A=) c.460+54A= (n.460+54A=) c.589+54A= (n.589+54A=) | |
9 | g.27173416A>C | CA1842021927 | TEK | c.901+54A>C (n.901+54A>C) c.460+54A>C (n.460+54A>C) c.589+54A>C (n.589+54A>C) | dbSNP gnomAD v4 |
9 | g.27173417G>T | CA2579318903 | TEK | c.901+55G>T (n.901+55G>T) c.460+55G>T (n.460+55G>T) c.589+55G>T (n.589+55G>T) | |
9 | g.27173418_27173419del | CA2689641494 | TEK | c.901+56_901+57del (n.901+56_901+57del) c.460+56_460+57del (n.460+56_460+57del) c.589+56_589+57del (n.589+56_589+57del) | gnomAD v4 |
9 | g.27173419T>A | CA1842021930 | TEK | c.901+57T>A (n.901+57T>A) c.460+57T>A (n.460+57T>A) c.589+57T>A (n.589+57T>A) | dbSNP gnomAD v4 |
9 | g.27173419T>C | CA1122570621 | TEK | c.901+57T>C (n.901+57T>C) c.460+57T>C (n.460+57T>C) c.589+57T>C (n.589+57T>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27173419T= | CA1842021928 | TEK | c.901+57T= (n.901+57T=) c.460+57T= (n.460+57T=) c.589+57T= (n.589+57T=) | |
9 | g.27173420C>T | CA2689641495 | TEK | c.901+58C>T (n.901+58C>T) c.460+58C>T (n.460+58C>T) c.589+58C>T (n.589+58C>T) | gnomAD v4 |
9 | g.27173420_27173421insA | CA2783322668 | TEK | c.901+58_901+59insA (n.901+58_901+59insA) c.460+58_460+59insA (n.460+58_460+59insA) c.589+58_589+59insA (n.589+58_589+59insA) | |
9 | g.27173421C>G | CA2783322669 | TEK | c.901+59C>G (n.901+59C>G) c.460+59C>G (n.460+59C>G) c.589+59C>G (n.589+59C>G) | |
9 | g.27173421C>T | CA2689641496 | TEK | c.901+59C>T (n.901+59C>T) c.460+59C>T (n.460+59C>T) c.589+59C>T (n.589+59C>T) | gnomAD v4 |
9 | g.27173422A= | CA1842021935 | TEK | c.901+60A= (n.901+60A=) c.460+60A= (n.460+60A=) c.589+60A= (n.589+60A=) | |
9 | g.27173422A>G | CA862769488 | TEK | c.901+60A>G (n.901+60A>G) c.460+60A>G (n.460+60A>G) c.589+60A>G (n.589+60A>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27173423G>C | CA1122570622 | TEK | c.901+61G>C (n.901+61G>C) c.460+61G>C (n.460+61G>C) c.589+61G>C (n.589+61G>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27173423G= | CA1842021938 | TEK | c.901+61G= (n.901+61G=) c.460+61G= (n.460+61G=) c.589+61G= (n.589+61G=) | |
9 | g.27173423G>T | CA1842021939 | TEK | c.901+61G>T (n.901+61G>T) c.460+61G>T (n.460+61G>T) c.589+61G>T (n.589+61G>T) | dbSNP gnomAD v4 |
9 | g.27173424T>C | CA2689641497 | TEK | c.901+62T>C (n.901+62T>C) c.460+62T>C (n.460+62T>C) c.589+62T>C (n.589+62T>C) | gnomAD v4 |