OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.27173267G>A | CA373125342 | TEK | c.806G>A (p.Ser269Asn) c.365G>A (p.Ser122Asn) c.494G>A (p.Ser165Asn) | |
| 9 | g.27173267G>C | CA373125345 | TEK | c.806G>C (p.Ser269Thr) c.365G>C (p.Ser122Thr) c.494G>C (p.Ser165Thr) | |
| 9 | g.27173267G= | CA1842021651 | TEK | c.806G= (p.Ser269=) c.365G= (p.Ser122=) c.494G= (p.Ser165=) | |
| 9 | g.27173267G>T | CA5016024 | TEK | c.806G>T (p.Ser269Ile) c.365G>T (p.Ser122Ile) c.494G>T (p.Ser165Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.27173268T>A | CA373125351 | TEK | c.807T>A (p.Ser269Arg) c.366T>A (p.Ser122Arg) c.495T>A (p.Ser165Arg) | |
| 9 | g.27173268T>C | CA464168660 | TEK | c.807T>C (p.Ser269=) c.366T>C (p.Ser122=) c.495T>C (p.Ser165=) | |
| 9 | g.27173268T>G | CA373125354 | TEK | c.807T>G (p.Ser269Arg) c.366T>G (p.Ser122Arg) c.495T>G (p.Ser165Arg) | |
| 9 | g.27173269G>A | CA373125358 | TEK | c.808G>A (p.Gly270Arg) c.367G>A (p.Gly123Arg) c.496G>A (p.Gly166Arg) | gnomAD v4 |
| 9 | g.27173269G>C | CA373125364 | TEK | c.808G>C (p.Gly270Arg) c.367G>C (p.Gly123Arg) c.496G>C (p.Gly166Arg) | |
| 9 | g.27173269G>T | CA373125366 | TEK | c.808G>T (p.Gly270Ter) c.367G>T (p.Gly123Ter) c.496G>T (p.Gly166Ter) | |
| 9 | g.27173270G>A | CA5016025 | TEK | c.809G>A (p.Gly270Glu) c.368G>A (p.Gly123Glu) c.497G>A (p.Gly166Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.27173270G>C | CA373125371 | TEK | c.809G>C (p.Gly270Ala) c.368G>C (p.Gly123Ala) c.497G>C (p.Gly166Ala) | gnomAD v4 |
| 9 | g.27173270G= | CA1842021655 | TEK | c.809G= (p.Gly270=) c.368G= (p.Gly123=) c.497G= (p.Gly166=) | |
| 9 | g.27173270G>T | CA373125368 | TEK | c.809G>T (p.Gly270Val) c.368G>T (p.Gly123Val) c.497G>T (p.Gly166Val) | |
| 9 | g.27173271A= | CA1842021661 | TEK | c.810A= (p.Gly270=) c.369A= (p.Gly123=) c.498A= (p.Gly166=) | |
| 9 | g.27173271A>C | CA464168662 | TEK | c.810A>C (p.Gly270=) c.369A>C (p.Gly123=) c.498A>C (p.Gly166=) | |
| 9 | g.27173271A>G | CA191326058 | TEK | c.810A>G (p.Gly270=) c.369A>G (p.Gly123=) c.498A>G (p.Gly166=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 9 | g.27173271A>T | CA464168663 | TEK | c.810A>T (p.Gly270=) c.369A>T (p.Gly123=) c.498A>T (p.Gly166=) | |
| 9 | g.27173272C>A | CA373125379 | TEK | c.811C>A (p.Gln271Lys) c.370C>A (p.Gln124Lys) c.499C>A (p.Gln167Lys) | |
| 9 | g.27173272C= | CA1842021665 | TEK | c.811C= (p.Gln271=) c.370C= (p.Gln124=) c.499C= (p.Gln167=) | |
| 9 | g.27173272C>G | CA5016026 | TEK | c.811C>G (p.Gln271Glu) c.370C>G (p.Gln124Glu) c.499C>G (p.Gln167Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.27173272C>T | CA373125384 | TEK | c.811C>T (p.Gln271Ter) c.370C>T (p.Gln124Ter) c.499C>T (p.Gln167Ter) | |
| 9 | g.27173273A>C | CA373125389 | TEK | c.812A>C (p.Gln271Pro) c.371A>C (p.Gln124Pro) c.500A>C (p.Gln167Pro) | |
| 9 | g.27173273A>G | CA373125392 | TEK | c.812A>G (p.Gln271Arg) c.371A>G (p.Gln124Arg) c.500A>G (p.Gln167Arg) | |
| 9 | g.27173273A>T | CA373125395 | TEK | c.812A>T (p.Gln271Leu) c.371A>T (p.Gln124Leu) c.500A>T (p.Gln167Leu) | |
| 9 | g.27173274A>C | CA373125400 | TEK | c.813A>C (p.Gln271His) c.372A>C (p.Gln124His) c.501A>C (p.Gln167His) | |
| 9 | g.27173274A>G | CA464168667 | TEK | c.813A>G (p.Gln271=) c.372A>G (p.Gln124=) c.501A>G (p.Gln167=) | gnomAD v4 |
| 9 | g.27173274A>T | CA373125405 | TEK | c.813A>T (p.Gln271His) c.372A>T (p.Gln124His) c.501A>T (p.Gln167His) | |
| 9 | g.27173275G>A | CA373125410 | TEK | c.814G>A (p.Glu272Lys) c.373G>A (p.Glu125Lys) c.502G>A (p.Glu168Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.27173275G>C | CA373125413 | TEK | c.814G>C (p.Glu272Gln) c.373G>C (p.Glu125Gln) c.502G>C (p.Glu168Gln) | |
| 9 | g.27173275G= | CA1842021669 | TEK | c.814G= (p.Glu272=) c.373G= (p.Glu125=) c.502G= (p.Glu168=) | |
| 9 | g.27173275G>T | CA373125416 | TEK | c.814G>T (p.Glu272Ter) c.373G>T (p.Glu125Ter) c.502G>T (p.Glu168Ter) | |
| 9 | g.27173276A>C | CA373125419 | TEK | c.815A>C (p.Glu272Ala) c.374A>C (p.Glu125Ala) c.503A>C (p.Glu168Ala) | |
| 9 | g.27173276A>G | CA373125421 | TEK | c.815A>G (p.Glu272Gly) c.374A>G (p.Glu125Gly) c.503A>G (p.Glu168Gly) | |
| 9 | g.27173276A>T | CA373125423 | TEK | c.815A>T (p.Glu272Val) c.374A>T (p.Glu125Val) c.503A>T (p.Glu168Val) | |
| 9 | g.27173277G>A | CA464168670 | TEK | c.816G>A (p.Glu272=) c.375G>A (p.Glu125=) c.504G>A (p.Glu168=) | gnomAD v4 |
| 9 | g.27173277G>C | CA373125427 | TEK | c.816G>C (p.Glu272Asp) c.375G>C (p.Glu125Asp) c.504G>C (p.Glu168Asp) | |
| 9 | g.27173277G>T | CA373125430 | TEK | c.816G>T (p.Glu272Asp) c.375G>T (p.Glu125Asp) c.504G>T (p.Glu168Asp) | |
| 9 | g.27173278G>A | CA373125432 | TEK | c.817G>A (p.Gly273Arg) c.376G>A (p.Gly126Arg) c.505G>A (p.Gly169Arg) | gnomAD v4 |
| 9 | g.27173278G>C | CA373125438 | TEK | c.817G>C (p.Gly273Arg) c.376G>C (p.Gly126Arg) c.505G>C (p.Gly169Arg) | |
| 9 | g.27173278G>T | CA373125435 | TEK | c.817G>T (p.Gly273Ter) c.376G>T (p.Gly126Ter) c.505G>T (p.Gly169Ter) | |
| 9 | g.27173279G>A | CA373125443 | TEK | c.818G>A (p.Gly273Glu) c.377G>A (p.Gly126Glu) c.506G>A (p.Gly169Glu) | dbSNP |
| 9 | g.27173279G>C | CA373125447 | TEK | c.818G>C (p.Gly273Ala) c.377G>C (p.Gly126Ala) c.506G>C (p.Gly169Ala) | |
| 9 | g.27173279G= | CA1842021673 | TEK | c.818G= (p.Gly273=) c.377G= (p.Gly126=) c.506G= (p.Gly169=) | |
| 9 | g.27173279G>T | CA373125450 | TEK | c.818G>T (p.Gly273Val) c.377G>T (p.Gly126Val) c.506G>T (p.Gly169Val) | |
| 9 | g.27173280A>C | CA464168672 | TEK | c.819A>C (p.Gly273=) c.378A>C (p.Gly126=) c.507A>C (p.Gly169=) | |
| 9 | g.27173280A>G | CA464168673 | TEK | c.819A>G (p.Gly273=) c.378A>G (p.Gly126=) c.507A>G (p.Gly169=) | |
| 9 | g.27173280A>T | CA464168674 | TEK | c.819A>T (p.Gly273=) c.378A>T (p.Gly126=) c.507A>T (p.Gly169=) | gnomAD v4 |
| 9 | g.27173281T>A | CA373125454 | TEK | c.820T>A (p.Cys274Ser) c.379T>A (p.Cys127Ser) c.508T>A (p.Cys170Ser) | |
| 9 | g.27173281T>C | CA373125457 | TEK | c.820T>C (p.Cys274Arg) c.379T>C (p.Cys127Arg) c.508T>C (p.Cys170Arg) | gnomAD v4 |
| 9 | g.27173281T>G | CA373125460 | TEK | c.820T>G (p.Cys274Gly) c.379T>G (p.Cys127Gly) c.508T>G (p.Cys170Gly) | |
| 9 | g.27173282G>A | CA373125464 | TEK | c.821G>A (p.Cys274Tyr) c.380G>A (p.Cys127Tyr) c.509G>A (p.Cys170Tyr) | |
| 9 | g.27173282G>C | CA373125467 | TEK | c.821G>C (p.Cys274Ser) c.380G>C (p.Cys127Ser) c.509G>C (p.Cys170Ser) | |
| 9 | g.27173282G>T | CA373125470 | TEK | c.821G>T (p.Cys274Phe) c.380G>T (p.Cys127Phe) c.509G>T (p.Cys170Phe) | |
| 9 | g.27173283C>A | CA373125473 | TEK | c.822C>A (p.Cys274Ter) c.381C>A (p.Cys127Ter) c.510C>A (p.Cys170Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.27173283C= | CA1842021676 | TEK | c.822C= (p.Cys274=) c.381C= (p.Cys127=) c.510C= (p.Cys170=) | |
| 9 | g.27173283C>G | CA373125476 | TEK | c.822C>G (p.Cys274Trp) c.381C>G (p.Cys127Trp) c.510C>G (p.Cys170Trp) | |
| 9 | g.27173283C>T | CA464168676 | TEK | c.822C>T (p.Cys274=) c.381C>T (p.Cys127=) c.510C>T (p.Cys170=) | |
| 9 | g.27173284A>C | CA373125488 | TEK | c.823A>C (p.Lys275Gln) c.382A>C (p.Lys128Gln) c.511A>C (p.Lys171Gln) | |
| 9 | g.27173284A>G | CA373125481 | TEK | c.823A>G (p.Lys275Glu) c.382A>G (p.Lys128Glu) c.511A>G (p.Lys171Glu) | |
| 9 | g.27173284A>T | CA373125485 | TEK | c.823A>T (p.Lys275Ter) c.382A>T (p.Lys128Ter) c.511A>T (p.Lys171Ter) | |
| 9 | g.27173285A>C | CA373125492 | TEK | c.824A>C (p.Lys275Thr) c.383A>C (p.Lys128Thr) c.512A>C (p.Lys171Thr) | |
| 9 | g.27173285A>G | CA373125494 | TEK | c.824A>G (p.Lys275Arg) c.383A>G (p.Lys128Arg) c.512A>G (p.Lys171Arg) | |
| 9 | g.27173285A>T | CA373125497 | TEK | c.824A>T (p.Lys275Met) c.383A>T (p.Lys128Met) c.512A>T (p.Lys171Met) | gnomAD v4 |
| 9 | g.27173286G>A | CA464168677 | TEK | c.825G>A (p.Lys275=) c.384G>A (p.Lys128=) c.513G>A (p.Lys171=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.27173286G>C | CA373125501 | TEK | c.825G>C (p.Lys275Asn) c.384G>C (p.Lys128Asn) c.513G>C (p.Lys171Asn) | |
| 9 | g.27173286G= | CA1842021681 | TEK | c.825G= (p.Lys275=) c.384G= (p.Lys128=) c.513G= (p.Lys171=) | |
| 9 | g.27173286G>T | CA373125504 | TEK | c.825G>T (p.Lys275Asn) c.384G>T (p.Lys128Asn) c.513G>T (p.Lys171Asn) | |
| 9 | g.27173287T>A | CA373125508 | TEK | c.826T>A (p.Ser276Thr) c.385T>A (p.Ser129Thr) c.514T>A (p.Ser172Thr) | |
| 9 | g.27173287T>C | CA373125511 | TEK | c.826T>C (p.Ser276Pro) c.385T>C (p.Ser129Pro) c.514T>C (p.Ser172Pro) | gnomAD v4 |
| 9 | g.27173287T>G | CA373125514 | TEK | c.826T>G (p.Ser276Ala) c.385T>G (p.Ser129Ala) c.514T>G (p.Ser172Ala) | dbSNP |
| 9 | g.27173288C>A | CA373125517 | TEK | c.827C>A (p.Ser276Tyr) c.386C>A (p.Ser129Tyr) c.515C>A (p.Ser172Tyr) | |
| 9 | g.27173288C>G | CA373125520 | TEK | c.827C>G (p.Ser276Cys) c.386C>G (p.Ser129Cys) c.515C>G (p.Ser172Cys) | |
| 9 | g.27173288C>T | CA373125523 | TEK | c.827C>T (p.Ser276Phe) c.386C>T (p.Ser129Phe) c.515C>T (p.Ser172Phe) | |
| 9 | g.27173289T>A | CA464168683 | TEK | c.828T>A (p.Ser276=) c.387T>A (p.Ser129=) c.516T>A (p.Ser172=) | |
| 9 | g.27173289T>C | CA464168681 | TEK | c.828T>C (p.Ser276=) c.387T>C (p.Ser129=) c.516T>C (p.Ser172=) | |
| 9 | g.27173289T>G | CA464168680 | TEK | c.828T>G (p.Ser276=) c.387T>G (p.Ser129=) c.516T>G (p.Ser172=) | |
| 9 | g.27173290T>A | CA373125528 | TEK | c.829T>A (p.Tyr277Asn) c.388T>A (p.Tyr130Asn) c.517T>A (p.Tyr173Asn) | |
| 9 | g.27173290T>C | CA373125531 | TEK | c.829T>C (p.Tyr277His) c.388T>C (p.Tyr130His) c.517T>C (p.Tyr173His) | |
| 9 | g.27173290T>G | CA373125526 | TEK | c.829T>G (p.Tyr277Asp) c.388T>G (p.Tyr130Asp) c.517T>G (p.Tyr173Asp) | |
| 9 | g.27173291A= | CA1842021684 | TEK | c.830A= (p.Tyr277=) c.389A= (p.Tyr130=) c.518A= (p.Tyr173=) | |
| 9 | g.27173291A>C | CA373125534 | TEK | c.830A>C (p.Tyr277Ser) c.389A>C (p.Tyr130Ser) c.518A>C (p.Tyr173Ser) | |
| 9 | g.27173291A>G | CA5016027 | TEK | c.830A>G (p.Tyr277Cys) c.389A>G (p.Tyr130Cys) c.518A>G (p.Tyr173Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.27173291A>T | CA373125539 | TEK | c.830A>T (p.Tyr277Phe) c.389A>T (p.Tyr130Phe) c.518A>T (p.Tyr173Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.27173292T>A | CA373125542 | TEK | c.831T>A (p.Tyr277Ter) c.390T>A (p.Tyr130Ter) c.519T>A (p.Tyr173Ter) | gnomAD v4 |
| 9 | g.27173292T>C | CA5016028 | TEK | c.831T>C (p.Tyr277=) c.390T>C (p.Tyr130=) c.519T>C (p.Tyr173=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.27173292T>G | CA373125548 | TEK | c.831T>G (p.Tyr277Ter) c.390T>G (p.Tyr130Ter) c.519T>G (p.Tyr173Ter) | |
| 9 | g.27173292T= | CA1842021685 | TEK | c.831T= (p.Tyr277=) c.390T= (p.Tyr130=) c.519T= (p.Tyr173=) | |
| 9 | g.27173292_27173293insCCAA | CA2689641472 | TEK | c.831_832insCCAA (p.Val278ProfsTer7) c.390_391insCCAA (p.Val131ProfsTer7) c.519_520insCCAA (p.Val174ProfsTer7) | gnomAD v4 |
| 9 | g.27173293G>A | CA373125550 | TEK | c.832G>A (p.Val278Met) c.391G>A (p.Val131Met) c.520G>A (p.Val174Met) | |
| 9 | g.27173293G>C | CA373125551 | TEK | c.832G>C (p.Val278Leu) c.391G>C (p.Val131Leu) c.520G>C (p.Val174Leu) | |
| 9 | g.27173293G>T | CA373125553 | TEK | c.832G>T (p.Val278Leu) c.391G>T (p.Val131Leu) c.520G>T (p.Val174Leu) | |
| 9 | g.27173294T>A | CA373125556 | TEK | c.833T>A (p.Val278Glu) c.392T>A (p.Val131Glu) c.521T>A (p.Val174Glu) | |
| 9 | g.27173294T>C | CA373125558 | TEK | c.833T>C (p.Val278Ala) c.392T>C (p.Val131Ala) c.521T>C (p.Val174Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.27173294T>G | CA373125560 | TEK | c.833T>G (p.Val278Gly) c.392T>G (p.Val131Gly) c.521T>G (p.Val174Gly) | |
| 9 | g.27173294T= | CA1842021689 | TEK | c.833T= (p.Val278=) c.392T= (p.Val131=) c.521T= (p.Val174=) | |
| 9 | g.27173295G>A | CA464168686 | TEK | c.834G>A (p.Val278=) c.393G>A (p.Val131=) c.522G>A (p.Val174=) | |
| 9 | g.27173295G>C | CA464168688 | TEK | c.834G>C (p.Val278=) c.393G>C (p.Val131=) c.522G>C (p.Val174=) | |
| 9 | g.27173295G>T | CA464168687 | TEK | c.834G>T (p.Val278=) c.393G>T (p.Val131=) c.522G>T (p.Val174=) | |
| 9 | g.27173296T>A | CA373125565 | TEK | c.835T>A (p.Phe279Ile) c.394T>A (p.Phe132Ile) c.523T>A (p.Phe175Ile) | |
| 9 | g.27173296T>C | CA5016029 | TEK | c.835T>C (p.Phe279Leu) c.394T>C (p.Phe132Leu) c.523T>C (p.Phe175Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.27173296T>G | CA373125563 | TEK | c.835T>G (p.Phe279Val) c.394T>G (p.Phe132Val) c.523T>G (p.Phe175Val) | |
| 9 | g.27173296T= | CA1842021693 | TEK | c.835T= (p.Phe279=) c.394T= (p.Phe132=) c.523T= (p.Phe175=) | |
| 9 | g.27173297T>A | CA373125568 | TEK | c.836T>A (p.Phe279Tyr) c.395T>A (p.Phe132Tyr) c.524T>A (p.Phe175Tyr) | gnomAD v4 |
| 9 | g.27173297T>C | CA373125570 | TEK | c.836T>C (p.Phe279Ser) c.395T>C (p.Phe132Ser) c.524T>C (p.Phe175Ser) | |
| 9 | g.27173297T>G | CA373125572 | TEK | c.836T>G (p.Phe279Cys) c.395T>G (p.Phe132Cys) c.524T>G (p.Phe175Cys) | |
| 9 | g.27173298C>A | CA373125574 | TEK | c.837C>A (p.Phe279Leu) c.396C>A (p.Phe132Leu) c.525C>A (p.Phe175Leu) | |
| 9 | g.27173298C= | CA1842021698 | TEK | c.837C= (p.Phe279=) c.396C= (p.Phe132=) c.525C= (p.Phe175=) | |
| 9 | g.27173298C>G | CA373125576 | TEK | c.837C>G (p.Phe279Leu) c.396C>G (p.Phe132Leu) c.525C>G (p.Phe175Leu) | |
| 9 | g.27173298C>T | CA5016030 | TEK | c.837C>T (p.Phe279=) c.396C>T (p.Phe132=) c.525C>T (p.Phe175=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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.27173299T>A | CA373125584 | TEK | c.838T>A (p.Cys280Ser) c.397T>A (p.Cys133Ser) c.526T>A (p.Cys176Ser) | |
| 9 | g.27173299T>C | CA373125580 | TEK | c.838T>C (p.Cys280Arg) c.397T>C (p.Cys133Arg) c.526T>C (p.Cys176Arg) | |
| 9 | g.27173299T>G | CA373125582 | TEK | c.838T>G (p.Cys280Gly) c.397T>G (p.Cys133Gly) c.526T>G (p.Cys176Gly) | |
| 9 | g.27173300G>A | CA5016031 | TEK | c.839G>A (p.Cys280Tyr) c.398G>A (p.Cys133Tyr) c.527G>A (p.Cys176Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.27173300G>C | CA373125587 | TEK | c.839G>C (p.Cys280Ser) c.398G>C (p.Cys133Ser) c.527G>C (p.Cys176Ser) | |
| 9 | g.27173300G= | CA1842021703 | TEK | c.839G= (p.Cys280=) c.398G= (p.Cys133=) c.527G= (p.Cys176=) | |
| 9 | g.27173300G>T | CA373125589 | TEK | c.839G>T (p.Cys280Phe) c.398G>T (p.Cys133Phe) c.527G>T (p.Cys176Phe) | |
| 9 | g.27173301T>A | CA373125591 | TEK | c.840T>A (p.Cys280Ter) c.399T>A (p.Cys133Ter) c.528T>A (p.Cys176Ter) | |
| 9 | g.27173301T>C | CA464168689 | TEK | c.840T>C (p.Cys280=) c.399T>C (p.Cys133=) c.528T>C (p.Cys176=) | |
| 9 | g.27173301T>G | CA373125593 | TEK | c.840T>G (p.Cys280Trp) c.399T>G (p.Cys133Trp) c.528T>G (p.Cys176Trp) | |
| 9 | g.27173302C>A | CA373125598 | TEK | c.841C>A (p.Leu281Ile) c.400C>A (p.Leu134Ile) c.529C>A (p.Leu177Ile) | gnomAD v4 |
| 9 | g.27173302C>G | CA373125596 | TEK | c.841C>G (p.Leu281Val) c.400C>G (p.Leu134Val) c.529C>G (p.Leu177Val) | |
| 9 | g.27173302C>T | CA373125595 | TEK | c.841C>T (p.Leu281Phe) c.400C>T (p.Leu134Phe) c.529C>T (p.Leu177Phe) | |
| 9 | g.27173303T>A | CA373125599 | TEK | c.842T>A (p.Leu281His) c.401T>A (p.Leu134His) c.530T>A (p.Leu177His) | |
| 9 | g.27173303T>C | CA373125602 | TEK | c.842T>C (p.Leu281Pro) c.401T>C (p.Leu134Pro) c.530T>C (p.Leu177Pro) | |
| 9 | g.27173303T>G | CA373125600 | TEK | c.842T>G (p.Leu281Arg) c.401T>G (p.Leu134Arg) c.530T>G (p.Leu177Arg) | |
| 9 | g.27173304C>A | CA464168690 | TEK | c.843C>A (p.Leu281=) c.402C>A (p.Leu134=) c.531C>A (p.Leu177=) | |
| 9 | g.27173304C= | CA1842021707 | TEK | c.843C= (p.Leu281=) c.402C= (p.Leu134=) c.531C= (p.Leu177=) | |
| 9 | g.27173304C>G | CA464168691 | TEK | c.843C>G (p.Leu281=) c.402C>G (p.Leu134=) c.531C>G (p.Leu177=) | |
| 9 | g.27173304C>T | CA464168692 | TEK | c.843C>T (p.Leu281=) c.402C>T (p.Leu134=) c.531C>T (p.Leu177=) | dbSNP gnomAD v4 |
| 9 | g.27173305C>A | CA373125603 | TEK | c.844C>A (p.Pro282Thr) c.403C>A (p.Pro135Thr) c.532C>A (p.Pro178Thr) | |
| 9 | g.27173305C>G | CA373125606 | TEK | c.844C>G (p.Pro282Ala) c.403C>G (p.Pro135Ala) c.532C>G (p.Pro178Ala) | |
| 9 | g.27173305C>T | CA373125604 | TEK | c.844C>T (p.Pro282Ser) c.403C>T (p.Pro135Ser) c.532C>T (p.Pro178Ser) | |
| 9 | g.27173306C>A | CA373125608 | TEK | c.845C>A (p.Pro282His) c.404C>A (p.Pro135His) c.533C>A (p.Pro178His) | |
| 9 | g.27173306C>G | CA373125610 | TEK | c.845C>G (p.Pro282Arg) c.404C>G (p.Pro135Arg) c.533C>G (p.Pro178Arg) | |
| 9 | g.27173306C>T | CA373125612 | TEK | c.845C>T (p.Pro282Leu) c.404C>T (p.Pro135Leu) c.533C>T (p.Pro178Leu) | |
| 9 | g.27173307T>A | CA464168693 | TEK | c.846T>A (p.Pro282=) c.405T>A (p.Pro135=) c.534T>A (p.Pro178=) | gnomAD v4 |
| 9 | g.27173307T>C | CA464168694 | TEK | c.846T>C (p.Pro282=) c.405T>C (p.Pro135=) c.534T>C (p.Pro178=) | |
| 9 | g.27173307T>G | CA464168695 | TEK | c.846T>G (p.Pro282=) c.405T>G (p.Pro135=) c.534T>G (p.Pro178=) | |
| 9 | g.27173308G>A | CA373125613 | TEK | c.847G>A (p.Asp283Asn) c.406G>A (p.Asp136Asn) c.535G>A (p.Asp179Asn) | |
| 9 | g.27173308G>C | CA373125616 | TEK | c.847G>C (p.Asp283His) c.406G>C (p.Asp136His) c.535G>C (p.Asp179His) | |
| 9 | g.27173308G>T | CA373125618 | TEK | c.847G>T (p.Asp283Tyr) c.406G>T (p.Asp136Tyr) c.535G>T (p.Asp179Tyr) | |
| 9 | g.27173309del | CA464168696 | TEK | c.848del (p.Asp283AlafsTer?) c.848del (p.Asp283AlafsTer23) c.407del (p.Asp136AlafsTer23) c.536del (p.Asp179AlafsTer23) | |
| 9 | g.27173309A>C | CA373125622 | TEK | c.848A>C (p.Asp283Ala) c.407A>C (p.Asp136Ala) c.536A>C (p.Asp179Ala) | |
| 9 | g.27173309A>G | CA373125625 | TEK | c.848A>G (p.Asp283Gly) c.407A>G (p.Asp136Gly) c.536A>G (p.Asp179Gly) | |
| 9 | g.27173309A>T | CA373125626 | TEK | c.848A>T (p.Asp283Val) c.407A>T (p.Asp136Val) c.536A>T (p.Asp179Val) | |
| 9 | g.27173310C>A | CA373125630 | TEK | c.849C>A (p.Asp283Glu) c.408C>A (p.Asp136Glu) c.537C>A (p.Asp179Glu) | |
| 9 | g.27173310C>G | CA373125633 | TEK | c.849C>G (p.Asp283Glu) c.408C>G (p.Asp136Glu) c.537C>G (p.Asp179Glu) | |
| 9 | g.27173310C>T | CA464168697 | TEK | c.849C>T (p.Asp283=) c.408C>T (p.Asp136=) c.537C>T (p.Asp179=) | gnomAD v4 |
| 9 | g.27173311C>A | CA373125648 | TEK | c.850C>A (p.Pro284Thr) c.409C>A (p.Pro137Thr) c.538C>A (p.Pro180Thr) | |
| 9 | g.27173311C>G | CA373125645 | TEK | c.850C>G (p.Pro284Ala) c.409C>G (p.Pro137Ala) c.538C>G (p.Pro180Ala) | |
| 9 | g.27173311C>T | CA373125642 | TEK | c.850C>T (p.Pro284Ser) c.409C>T (p.Pro137Ser) c.538C>T (p.Pro180Ser) | |
| 9 | g.27173312C>A | CA373125654 | TEK | c.851C>A (p.Pro284His) c.410C>A (p.Pro137His) c.539C>A (p.Pro180His) | |
| 9 | g.27173312C>G | CA373125657 | TEK | c.851C>G (p.Pro284Arg) c.410C>G (p.Pro137Arg) c.539C>G (p.Pro180Arg) | |
| 9 | g.27173312C>T | CA373125659 | TEK | c.851C>T (p.Pro284Leu) c.410C>T (p.Pro137Leu) c.539C>T (p.Pro180Leu) | |
| 9 | g.27173313C>A | CA464168699 | TEK | c.852C>A (p.Pro284=) c.411C>A (p.Pro137=) c.540C>A (p.Pro180=) | |
| 9 | g.27173313C= | CA1842021710 | TEK | c.852C= (p.Pro284=) c.411C= (p.Pro137=) c.540C= (p.Pro180=) | |
| 9 | g.27173313C>G | CA464168700 | TEK | c.852C>G (p.Pro284=) c.411C>G (p.Pro137=) c.540C>G (p.Pro180=) | gnomAD v4 |
| 9 | g.27173313C>T | CA5016032 | TEK | c.852C>T (p.Pro284=) c.411C>T (p.Pro137=) c.540C>T (p.Pro180=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.27173314del | CA2689641473 | TEK | c.853del (p.Tyr285MetfsTer?) c.853del (p.Tyr285MetfsTer21) c.412del (p.Tyr138MetfsTer21) c.541del (p.Tyr181MetfsTer21) | gnomAD v4 |
| 9 | g.27173314T>A | CA373125673 | TEK | c.853T>A (p.Tyr285Asn) c.412T>A (p.Tyr138Asn) c.541T>A (p.Tyr181Asn) | |
| 9 | g.27173314T>C | CA373125675 | TEK | c.853T>C (p.Tyr285His) c.412T>C (p.Tyr138His) c.541T>C (p.Tyr181His) | |
| 9 | g.27173314T>G | CA373125679 | TEK | c.853T>G (p.Tyr285Asp) c.412T>G (p.Tyr138Asp) c.541T>G (p.Tyr181Asp) | |
| 9 | g.27173315A= | CA1842021712 | TEK | c.854A= (p.Tyr285=) c.413A= (p.Tyr138=) c.542A= (p.Tyr181=) | |
| 9 | g.27173315A>C | CA373125684 | TEK | c.854A>C (p.Tyr285Ser) c.413A>C (p.Tyr138Ser) c.542A>C (p.Tyr181Ser) | |
| 9 | g.27173315A>G | CA373125687 | TEK | c.854A>G (p.Tyr285Cys) c.413A>G (p.Tyr138Cys) c.542A>G (p.Tyr181Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.27173315A>T | CA373125696 | TEK | c.854A>T (p.Tyr285Phe) c.413A>T (p.Tyr138Phe) c.542A>T (p.Tyr181Phe) | |
| 9 | g.27173316T>A | CA373125698 | TEK | c.855T>A (p.Tyr285Ter) c.414T>A (p.Tyr138Ter) c.543T>A (p.Tyr181Ter) | |
| 9 | g.27173316T>C | CA464168704 | TEK | c.855T>C (p.Tyr285=) c.414T>C (p.Tyr138=) c.543T>C (p.Tyr181=) | dbSNP gnomAD v4 |
| 9 | g.27173316T>G | CA373125702 | TEK | c.855T>G (p.Tyr285Ter) c.414T>G (p.Tyr138Ter) c.543T>G (p.Tyr181Ter) | |
| 9 | g.27173316T= | CA1842021718 | TEK | c.855T= (p.Tyr285=) c.414T= (p.Tyr138=) c.543T= (p.Tyr181=) | |
| 9 | g.27173317G>A | CA5016033 | TEK | c.856G>A (p.Gly286Arg) c.415G>A (p.Gly139Arg) c.544G>A (p.Gly182Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.27173317G>C | CA373125708 | TEK | c.856G>C (p.Gly286Arg) c.415G>C (p.Gly139Arg) c.544G>C (p.Gly182Arg) | |
| 9 | g.27173317G= | CA1842021722 | TEK | c.856G= (p.Gly286=) c.415G= (p.Gly139=) c.544G= (p.Gly182=) | |
| 9 | g.27173317G>T | CA373125706 | TEK | c.856G>T (p.Gly286Trp) c.415G>T (p.Gly139Trp) c.544G>T (p.Gly182Trp) | |
| 9 | g.27173318G>A | CA373125720 | TEK | c.857G>A (p.Gly286Glu) c.416G>A (p.Gly139Glu) c.545G>A (p.Gly182Glu) | |
| 9 | g.27173318G>C | CA373125715 | TEK | c.857G>C (p.Gly286Ala) c.416G>C (p.Gly139Ala) c.545G>C (p.Gly182Ala) | |
| 9 | g.27173318G>T | CA373125717 | TEK | c.857G>T (p.Gly286Val) c.416G>T (p.Gly139Val) c.545G>T (p.Gly182Val) | ClinVar dbSNP |
| 9 | g.27173319G>A | CA464168706 | TEK | c.858G>A (p.Gly286=) c.417G>A (p.Gly139=) c.546G>A (p.Gly182=) | |
| 9 | g.27173319G>C | CA464168707 | TEK | c.858G>C (p.Gly286=) c.417G>C (p.Gly139=) c.546G>C (p.Gly182=) | COSMIC COSMIC |
| 9 | g.27173319G= | CA1842021726 | TEK | c.858G= (p.Gly286=) c.417G= (p.Gly139=) c.546G= (p.Gly182=) | |
| 9 | g.27173319G>T | CA5016034 | TEK | c.858G>T (p.Gly286=) c.417G>T (p.Gly139=) c.546G>T (p.Gly182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.27173320T>A | CA373125727 | TEK | c.859T>A (p.Cys287Ser) c.418T>A (p.Cys140Ser) c.547T>A (p.Cys183Ser) | |
| 9 | g.27173320T>C | CA373125729 | TEK | c.859T>C (p.Cys287Arg) c.418T>C (p.Cys140Arg) c.547T>C (p.Cys183Arg) | |
| 9 | g.27173320T>G | CA373125731 | TEK | c.859T>G (p.Cys287Gly) c.418T>G (p.Cys140Gly) c.547T>G (p.Cys183Gly) | |
| 9 | g.27173321G>A | CA373125741 | TEK | c.860G>A (p.Cys287Tyr) c.419G>A (p.Cys140Tyr) c.548G>A (p.Cys183Tyr) | |
| 9 | g.27173321G>C | CA373125734 | TEK | c.860G>C (p.Cys287Ser) c.419G>C (p.Cys140Ser) c.548G>C (p.Cys183Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.27173321G= | CA1842021733 | TEK | c.860G= (p.Cys287=) c.419G= (p.Cys140=) c.548G= (p.Cys183=) | |
| 9 | g.27173321G>T | CA373125738 | TEK | c.860G>T (p.Cys287Phe) c.419G>T (p.Cys140Phe) c.548G>T (p.Cys183Phe) | |
| 9 | g.27173322T>A | CA373125745 | TEK | c.861T>A (p.Cys287Ter) c.420T>A (p.Cys140Ter) c.549T>A (p.Cys183Ter) | |
| 9 | g.27173322T>C | CA464168710 | TEK | c.861T>C (p.Cys287=) c.420T>C (p.Cys140=) c.549T>C (p.Cys183=) | |
| 9 | g.27173322T>G | CA373125748 | TEK | c.861T>G (p.Cys287Trp) c.420T>G (p.Cys140Trp) c.549T>G (p.Cys183Trp) | |
| 9 | g.27173323T>A | CA373125752 | TEK | c.862T>A (p.Ser288Thr) c.421T>A (p.Ser141Thr) c.550T>A (p.Ser184Thr) | |
| 9 | g.27173323T>C | CA373125755 | TEK | c.862T>C (p.Ser288Pro) c.421T>C (p.Ser141Pro) c.550T>C (p.Ser184Pro) | |
| 9 | g.27173323T>G | CA373125757 | TEK | c.862T>G (p.Ser288Ala) c.421T>G (p.Ser141Ala) c.550T>G (p.Ser184Ala) | |
| 9 | g.27173324C>A | CA373125762 | TEK | c.863C>A (p.Ser288Tyr) c.422C>A (p.Ser141Tyr) c.551C>A (p.Ser184Tyr) | dbSNP |
| 9 | g.27173324C>G | CA373125769 | TEK | c.863C>G (p.Ser288Cys) c.422C>G (p.Ser141Cys) c.551C>G (p.Ser184Cys) | |
| 9 | g.27173324C>T | CA373125765 | TEK | c.863C>T (p.Ser288Phe) c.422C>T (p.Ser141Phe) c.551C>T (p.Ser184Phe) | |
| 9 | g.27173325del | CA2689641474 | TEK | c.864del (p.Cys289ValfsTer?) c.864del (p.Cys289ValfsTer17) c.423del (p.Cys142ValfsTer17) c.552del (p.Cys185ValfsTer17) | gnomAD v4 |
| 9 | g.27173325C>A | CA464168712 | TEK | c.864C>A (p.Ser288=) c.423C>A (p.Ser141=) c.552C>A (p.Ser184=) | |
| 9 | g.27173325C>G | CA464168713 | TEK | c.864C>G (p.Ser288=) c.423C>G (p.Ser141=) c.552C>G (p.Ser184=) | |
| 9 | g.27173325C>T | CA464168714 | TEK | c.864C>T (p.Ser288=) c.423C>T (p.Ser141=) c.552C>T (p.Ser184=) | COSMIC COSMIC |
| 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=) |