| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |