Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.27172845A>C | CA2689641323 | TEK | c.760+98A>C (n.760+98A>C) c.319+98A>C (n.319+98A>C) c.448+98A>C (n.448+98A>C) | gnomAD v4 |
9 | g.27172845A>G | CA2783315619 | TEK | c.760+98A>G (n.760+98A>G) c.319+98A>G (n.319+98A>G) c.448+98A>G (n.448+98A>G) | |
9 | g.27172846A= | CA1842020989 | TEK | c.760+99A= (n.760+99A=) c.319+99A= (n.319+99A=) c.448+99A= (n.448+99A=) | |
9 | g.27172846A>C | CA2689641324 | TEK | c.760+99A>C (n.760+99A>C) c.319+99A>C (n.319+99A>C) c.448+99A>C (n.448+99A>C) | gnomAD v4 |
9 | g.27172846A>G | CA1842020991 | TEK | c.760+99A>G (n.760+99A>G) c.319+99A>G (n.319+99A>G) c.448+99A>G (n.448+99A>G) | dbSNP |
9 | g.27172847T>C | CA2689641325 | TEK | c.760+100T>C (n.760+100T>C) c.319+100T>C (n.319+100T>C) c.448+100T>C (n.448+100T>C) | gnomAD v4 |
9 | g.27172847T>G | CA191325824 | TEK | c.760+100T>G (n.760+100T>G) c.319+100T>G (n.319+100T>G) c.448+100T>G (n.448+100T>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27172847T= | CA1842020993 | TEK | c.760+100T= (n.760+100T=) c.319+100T= (n.319+100T=) c.448+100T= (n.448+100T=) | |
9 | g.27172847_27172848insACA | CA2783315620 | TEK | c.760+100_760+101insACA (n.760+100_760+101insACA) c.319+100_319+101insACA (n.319+100_319+101insACA) c.448+100_448+101insACA (n.448+100_448+101insACA) | |
9 | g.27172848G>A | CA191325827 | TEK | c.760+101G>A (n.760+101G>A) c.319+101G>A (n.319+101G>A) c.448+101G>A (n.448+101G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27172848G= | CA1842020997 | TEK | c.760+101G= (n.760+101G=) c.319+101G= (n.319+101G=) c.448+101G= (n.448+101G=) | |
9 | g.27172849G>A | CA2783315621 | TEK | c.760+102G>A (n.760+102G>A) c.319+102G>A (n.319+102G>A) c.448+102G>A (n.448+102G>A) | |
9 | g.27172849G>T | CA2689641326 | TEK | c.760+102G>T (n.760+102G>T) c.319+102G>T (n.319+102G>T) c.448+102G>T (n.448+102G>T) | gnomAD v4 |
9 | g.27172850C>A | CA2689641328 | TEK | c.760+103C>A (n.760+103C>A) c.319+103C>A (n.319+103C>A) c.448+103C>A (n.448+103C>A) | gnomAD v4 |
9 | g.27172850C>T | CA2689641327 | TEK | c.760+103C>T (n.760+103C>T) c.319+103C>T (n.319+103C>T) c.448+103C>T (n.448+103C>T) | gnomAD v4 |
9 | g.27172851_27172862del | CA2783315622 | TEK | c.760+104_760+115del (n.760+104_760+115del) c.319+104_319+115del (n.319+104_319+115del) c.448+104_448+115del (n.448+104_448+115del) | |
9 | g.27172850_27172851insACAA | CA2783315623 | TEK | c.760+103_760+104insACAA (n.760+103_760+104insACAA) c.319+103_319+104insACAA (n.319+103_319+104insACAA) c.448+103_448+104insACAA (n.448+103_448+104insACAA) | |
9 | g.27172851C>A | CA2689641329 | TEK | c.760+104C>A (n.760+104C>A) c.319+104C>A (n.319+104C>A) c.448+104C>A (n.448+104C>A) | gnomAD v4 |
9 | g.27172851C= | CA1842020998 | TEK | c.760+104C= (n.760+104C=) c.319+104C= (n.319+104C=) c.448+104C= (n.448+104C=) | |
9 | g.27172851C>G | CA2689641330 | TEK | c.760+104C>G (n.760+104C>G) c.319+104C>G (n.319+104C>G) c.448+104C>G (n.448+104C>G) | gnomAD v4 |
9 | g.27172851C>T | CA1842021001 | TEK | c.760+104C>T (n.760+104C>T) c.319+104C>T (n.319+104C>T) c.448+104C>T (n.448+104C>T) | dbSNP gnomAD v4 |
9 | g.27172852_27172857del | CA2783315624 | TEK | c.760+105_760+110del (n.760+105_760+110del) c.319+105_319+110del (n.319+105_319+110del) c.448+105_448+110del (n.448+105_448+110del) | |
9 | g.27172852_27172853insAC | CA2783315628 | TEK | c.760+105_760+106insAC (n.760+105_760+106insAC) c.319+105_319+106insAC (n.319+105_319+106insAC) c.448+105_448+106insAC (n.448+105_448+106insAC) | |
9 | g.27172853C>A | CA2689641331 | TEK | c.760+106C>A (n.760+106C>A) c.319+106C>A (n.319+106C>A) c.448+106C>A (n.448+106C>A) | gnomAD v4 |
9 | g.27172853C= | CA1842021005 | TEK | c.760+106C= (n.760+106C=) c.319+106C= (n.319+106C=) c.448+106C= (n.448+106C=) | |
9 | g.27172853C>T | CA191325830 | TEK | c.760+106C>T (n.760+106C>T) c.319+106C>T (n.319+106C>T) c.448+106C>T (n.448+106C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27172853_27172854delinsCT | CA1842021007 | TEK | c.760+106_760+107delinsCT (n.760+106_760+107delinsCT) c.319+106_319+107delinsCT (n.319+106_319+107delinsCT) c.448+106_448+107delinsCT (n.448+106_448+107delinsCT) | |
9 | g.27172855_27173135del | CA2783315626 | TEK | c.760+108_761-87del (n.760+108_761-87del) c.319+108_320-87del (n.319+108_320-87del) c.448+108_449-87del (n.448+108_449-87del) | |
9 | g.27172853_27172854insACA | CA2783315629 | TEK | c.760+106_760+107insACA (n.760+106_760+107insACA) c.319+106_319+107insACA (n.319+106_319+107insACA) c.448+106_448+107insACA (n.448+106_448+107insACA) | |
9 | g.27172853_27172854insAGAA | CA2783315630 | TEK | c.760+106_760+107insAGAA (n.760+106_760+107insAGAA) c.319+106_319+107insAGAA (n.319+106_319+107insAGAA) c.448+106_448+107insAGAA (n.448+106_448+107insAGAA) | |
9 | g.27172854del | CA862769305 | TEK | c.760+107del (n.760+107del) c.319+107del (n.319+107del) c.448+107del (n.448+107del) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27172855_27172857del | CA2783315631 | TEK | c.760+108_760+110del (n.760+108_760+110del) c.319+108_319+110del (n.319+108_319+110del) c.448+108_448+110del (n.448+108_448+110del) | |
9 | g.27172854_27172855insA | CA2783315632 | TEK | c.760+107_760+108insA (n.760+107_760+108insA) c.319+107_319+108insA (n.319+107_319+108insA) c.448+107_448+108insA (n.448+107_448+108insA) | |
9 | g.27172854_27172855insACAG | CA2783315633 | TEK | c.760+107_760+108insACAG (n.760+107_760+108insACAG) c.319+107_319+108insACAG (n.319+107_319+108insACAG) c.448+107_448+108insACAG (n.448+107_448+108insACAG) | |
9 | g.27172855G>A | CA1842021016 | TEK | c.760+108G>A (n.760+108G>A) c.319+108G>A (n.319+108G>A) c.448+108G>A (n.448+108G>A) | dbSNP gnomAD v4 |
9 | g.27172855G= | CA1842021014 | TEK | c.760+108G= (n.760+108G=) c.319+108G= (n.319+108G=) c.448+108G= (n.448+108G=) | |
9 | g.27172856T>G | CA2783315634 | TEK | c.760+109T>G (n.760+109T>G) c.319+109T>G (n.319+109T>G) c.448+109T>G (n.448+109T>G) | |
9 | g.27172857del | CA2689641332 | TEK | c.760+110del (n.760+110del) c.319+110del (n.319+110del) c.448+110del (n.448+110del) | gnomAD v4 |
9 | g.27172856_27172857insA | CA2783315635 | TEK | c.760+109_760+110insA (n.760+109_760+110insA) c.319+109_319+110insA (n.319+109_319+110insA) c.448+109_448+110insA (n.448+109_448+110insA) | |
9 | g.27172856_27172857insAGTA | CA2783315636 | TEK | c.760+109_760+110insAGTA (n.760+109_760+110insAGTA) c.319+109_319+110insAGTA (n.319+109_319+110insAGTA) c.448+109_448+110insAGTA (n.448+109_448+110insAGTA) | |
9 | g.27172857T>C | CA1842021021 | TEK | c.760+110T>C (n.760+110T>C) c.319+110T>C (n.319+110T>C) c.448+110T>C (n.448+110T>C) | dbSNP gnomAD v4 |
9 | g.27172857T>G | CA191325835 | TEK | c.760+110T>G (n.760+110T>G) c.319+110T>G (n.319+110T>G) c.448+110T>G (n.448+110T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27172857T= | CA1842021019 | TEK | c.760+110T= (n.760+110T=) c.319+110T= (n.319+110T=) c.448+110T= (n.448+110T=) | |
9 | g.27172858A>C | CA2783315637 | TEK | c.760+111A>C (n.760+111A>C) c.319+111A>C (n.319+111A>C) c.448+111A>C (n.448+111A>C) | |
9 | g.27172859G>A | CA2689641333 | TEK | c.760+112G>A (n.760+112G>A) c.319+112G>A (n.319+112G>A) c.448+112G>A (n.448+112G>A) | gnomAD v4 |
9 | g.27172859G>C | CA2689641334 | TEK | c.760+112G>C (n.760+112G>C) c.319+112G>C (n.319+112G>C) c.448+112G>C (n.448+112G>C) | gnomAD v4 |
9 | g.27172859G>T | CA2689641335 | TEK | c.760+112G>T (n.760+112G>T) c.319+112G>T (n.319+112G>T) c.448+112G>T (n.448+112G>T) | gnomAD v4 |
9 | g.27172860del | CA2783315638 | TEK | c.760+113del (n.760+113del) c.319+113del (n.319+113del) c.448+113del (n.448+113del) | |
9 | g.27172860G>A | CA2689641336 | TEK | c.760+113G>A (n.760+113G>A) c.319+113G>A (n.319+113G>A) c.448+113G>A (n.448+113G>A) | gnomAD v4 |
9 | g.27172860G>C | CA2741010174 | TEK | c.760+113G>C (n.760+113G>C) c.319+113G>C (n.319+113G>C) c.448+113G>C (n.448+113G>C) | |
9 | g.27172860G>T | CA2689641337 | TEK | c.760+113G>T (n.760+113G>T) c.319+113G>T (n.319+113G>T) c.448+113G>T (n.448+113G>T) | gnomAD v4 |
9 | g.27172861T>A | CA2689641338 | TEK | c.760+114T>A (n.760+114T>A) c.319+114T>A (n.319+114T>A) c.448+114T>A (n.448+114T>A) | gnomAD v4 |
9 | g.27172861_27172862insA | CA2783315639 | TEK | c.760+114_760+115insA (n.760+114_760+115insA) c.319+114_319+115insA (n.319+114_319+115insA) c.448+114_448+115insA (n.448+114_448+115insA) | |
9 | g.27172861_27172862insACAA | CA2783315640 | TEK | c.760+114_760+115insACAA (n.760+114_760+115insACAA) c.319+114_319+115insACAA (n.319+114_319+115insACAA) c.448+114_448+115insACAA (n.448+114_448+115insACAA) | |
9 | g.27172861_27172862insACTA | CA2783315641 | TEK | c.760+114_760+115insACTA (n.760+114_760+115insACTA) c.319+114_319+115insACTA (n.319+114_319+115insACTA) c.448+114_448+115insACTA (n.448+114_448+115insACTA) | |
9 | g.27172862C>A | CA2689641339 | TEK | c.760+115C>A (n.760+115C>A) c.319+115C>A (n.319+115C>A) c.448+115C>A (n.448+115C>A) | gnomAD v4 |
9 | g.27172862C>G | CA2783315642 | TEK | c.760+115C>G (n.760+115C>G) c.319+115C>G (n.319+115C>G) c.448+115C>G (n.448+115C>G) | |
9 | g.27172862C>T | CA2526036567 | TEK | c.760+115C>T (n.760+115C>T) c.319+115C>T (n.319+115C>T) c.448+115C>T (n.448+115C>T) | gnomAD v4 |
9 | g.27172863dup | CA2783315643 | TEK | c.760+116dup (n.760+116dup) c.319+116dup (n.319+116dup) c.448+116dup (n.448+116dup) | |
9 | g.27172864G>C | CA2783315644 | TEK | c.760+117G>C (n.760+117G>C) c.319+117G>C (n.319+117G>C) c.448+117G>C (n.448+117G>C) | |
9 | g.27172864G= | CA1842021029 | TEK | c.760+117G= (n.760+117G=) c.319+117G= (n.319+117G=) c.448+117G= (n.448+117G=) | |
9 | g.27172864G>T | CA862769306 | TEK | c.760+117G>T (n.760+117G>T) c.319+117G>T (n.319+117G>T) c.448+117G>T (n.448+117G>T) | dbSNP gnomAD v4 |
9 | g.27172865A= | CA1842021038 | TEK | c.760+118A= (n.760+118A=) c.319+118A= (n.319+118A=) c.448+118A= (n.448+118A=) | |
9 | g.27172865A>G | CA191325838 | TEK | c.760+118A>G (n.760+118A>G) c.319+118A>G (n.319+118A>G) c.448+118A>G (n.448+118A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27172866T>A | CA2783315646 | TEK | c.760+119T>A (n.760+119T>A) c.319+119T>A (n.319+119T>A) c.448+119T>A (n.448+119T>A) | |
9 | g.27172866T>C | CA862769307 | TEK | c.760+119T>C (n.760+119T>C) c.319+119T>C (n.319+119T>C) c.448+119T>C (n.448+119T>C) | dbSNP gnomAD v4 |
9 | g.27172866T= | CA1842021041 | TEK | c.760+119T= (n.760+119T=) c.319+119T= (n.319+119T=) c.448+119T= (n.448+119T=) | |
9 | g.27172867_27172869del | CA2783315645 | TEK | c.760+120_760+122del (n.760+120_760+122del) c.319+120_319+122del (n.319+120_319+122del) c.448+120_448+122del (n.448+120_448+122del) | |
9 | g.27172866_27172867insA | CA2783315650 | TEK | c.760+119_760+120insA (n.760+119_760+120insA) c.319+119_319+120insA (n.319+119_319+120insA) c.448+119_448+120insA (n.448+119_448+120insA) | |
9 | g.27172866_27172867insAC | CA2783315649 | TEK | c.760+119_760+120insAC (n.760+119_760+120insAC) c.319+119_319+120insAC (n.319+119_319+120insAC) c.448+119_448+120insAC (n.448+119_448+120insAC) | |
9 | g.27172866_27172867insACA | CA2783315652 | TEK | c.760+119_760+120insACA (n.760+119_760+120insACA) c.319+119_319+120insACA (n.319+119_319+120insACA) c.448+119_448+120insACA (n.448+119_448+120insACA) | |
9 | g.27172867G>A | CA2783315648 | TEK | c.760+120G>A (n.760+120G>A) c.319+120G>A (n.319+120G>A) c.448+120G>A (n.448+120G>A) | |
9 | g.27172868del | CA2689641340 | TEK | c.760+121del (n.760+121del) c.319+121del (n.319+121del) c.448+121del (n.448+121del) | gnomAD v4 |
9 | g.27172867_27172868insACA | CA2783315655 | TEK | c.760+120_760+121insACA (n.760+120_760+121insACA) c.319+120_319+121insACA (n.319+120_319+121insACA) c.448+120_448+121insACA (n.448+120_448+121insACA) | |
9 | g.27172868G>A | CA1842021044 | TEK | c.760+121G>A (n.760+121G>A) c.319+121G>A (n.319+121G>A) c.448+121G>A (n.448+121G>A) | dbSNP gnomAD v4 |
9 | g.27172868G>C | CA2783315654 | TEK | c.760+121G>C (n.760+121G>C) c.319+121G>C (n.319+121G>C) c.448+121G>C (n.448+121G>C) | |
9 | g.27172868G= | CA1842021045 | TEK | c.760+121G= (n.760+121G=) c.319+121G= (n.319+121G=) c.448+121G= (n.448+121G=) | |
9 | g.27172868_27172869del | CA2783315653 | TEK | c.760+121_760+122del (n.760+121_760+122del) c.319+121_319+122del (n.319+121_319+122del) c.448+121_448+122del (n.448+121_448+122del) | |
9 | g.27172868_27172869insA | CA2783315656 | TEK | c.760+121_760+122insA (n.760+121_760+122insA) c.319+121_319+122insA (n.319+121_319+122insA) c.448+121_448+122insA (n.448+121_448+122insA) | |
9 | g.27172868_27172869insAC | CA2783315657 | TEK | c.760+121_760+122insAC (n.760+121_760+122insAC) c.319+121_319+122insAC (n.319+121_319+122insAC) c.448+121_448+122insAC (n.448+121_448+122insAC) | |
9 | g.27172869T>A | CA2689641341 | TEK | c.760+122T>A (n.760+122T>A) c.319+122T>A (n.319+122T>A) c.448+122T>A (n.448+122T>A) | gnomAD v4 |
9 | g.27172869T>C | CA2689641342 | TEK | c.760+122T>C (n.760+122T>C) c.319+122T>C (n.319+122T>C) c.448+122T>C (n.448+122T>C) | gnomAD v4 |
9 | g.27172870del | CA2689641343 | TEK | c.760+123del (n.760+123del) c.319+123del (n.319+123del) c.448+123del (n.448+123del) | gnomAD v4 |
9 | g.27172870A>G | CA652725102 | TEK | c.760+123A>G (n.760+123A>G) c.319+123A>G (n.319+123A>G) c.448+123A>G (n.448+123A>G) | COSMIC |
9 | g.27172870A>T | CA2689641344 | TEK | c.760+123A>T (n.760+123A>T) c.319+123A>T (n.319+123A>T) c.448+123A>T (n.448+123A>T) | gnomAD v4 |
9 | g.27172871C>A | CA2689641345 | TEK | c.760+124C>A (n.760+124C>A) c.319+124C>A (n.319+124C>A) c.448+124C>A (n.448+124C>A) | gnomAD v4 |
9 | g.27172871_27172872insTC | CA2783315658 | TEK | c.760+124_760+125insTC (n.760+124_760+125insTC) c.319+124_319+125insTC (n.319+124_319+125insTC) c.448+124_448+125insTC (n.448+124_448+125insTC) | |
9 | g.27172871_27172872insAGT | CA2783315659 | TEK | c.760+124_760+125insAGT (n.760+124_760+125insAGT) c.319+124_319+125insAGT (n.319+124_319+125insAGT) c.448+124_448+125insAGT (n.448+124_448+125insAGT) | |
9 | g.27172872C>A | CA2689641346 | TEK | c.760+125C>A (n.760+125C>A) c.319+125C>A (n.319+125C>A) c.448+125C>A (n.448+125C>A) | gnomAD v4 |
9 | g.27172872C= | CA1842021047 | TEK | c.760+125C= (n.760+125C=) c.319+125C= (n.319+125C=) c.448+125C= (n.448+125C=) | |
9 | g.27172872C>T | CA191325841 | TEK | c.760+125C>T (n.760+125C>T) c.319+125C>T (n.319+125C>T) c.448+125C>T (n.448+125C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27172872_27172884del | CA2783315660 | TEK | c.760+125_760+137del (n.760+125_760+137del) c.319+125_319+137del (n.319+125_319+137del) c.448+125_448+137del (n.448+125_448+137del) | |
9 | g.27172873T>C | CA191325842 | TEK | c.760+126T>C (n.760+126T>C) c.319+126T>C (n.319+126T>C) c.448+126T>C (n.448+126T>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27172873T= | CA1842021050 | TEK | c.760+126T= (n.760+126T=) c.319+126T= (n.319+126T=) c.448+126T= (n.448+126T=) | |
9 | g.27172879_27172880del | CA2689641347 | TEK | c.760+132_760+133del (n.760+132_760+133del) c.319+132_319+133del (n.319+132_319+133del) c.448+132_448+133del (n.448+132_448+133del) | gnomAD v4 |
9 | g.27172877_27172880del | CA2689641348 | TEK | c.760+130_760+133del (n.760+130_760+133del) c.319+130_319+133del (n.319+130_319+133del) c.448+130_448+133del (n.448+130_448+133del) | gnomAD v4 |
9 | g.27172873_27172874insA | CA2783315662 | TEK | c.760+126_760+127insA (n.760+126_760+127insA) c.319+126_319+127insA (n.319+126_319+127insA) c.448+126_448+127insA (n.448+126_448+127insA) | |
9 | g.27172874G>T | CA2689641349 | TEK | c.760+127G>T (n.760+127G>T) c.319+127G>T (n.319+127G>T) c.448+127G>T (n.448+127G>T) | gnomAD v4 |
9 | g.27172874_27172880del | CA2783315663 | TEK | c.760+127_760+133del (n.760+127_760+133del) c.319+127_319+133del (n.319+127_319+133del) c.448+127_448+133del (n.448+127_448+133del) | |
9 | g.27172874_27172875insACT | CA2783315664 | TEK | c.760+127_760+128insACT (n.760+127_760+128insACT) c.319+127_319+128insACT (n.319+127_319+128insACT) c.448+127_448+128insACT (n.448+127_448+128insACT) | |
9 | g.27172875T>C | CA862769310 | TEK | c.760+128T>C (n.760+128T>C) c.319+128T>C (n.319+128T>C) c.448+128T>C (n.448+128T>C) | dbSNP gnomAD v4 |
9 | g.27172875T= | CA1842021053 | TEK | c.760+128T= (n.760+128T=) c.319+128T= (n.319+128T=) c.448+128T= (n.448+128T=) | |
9 | g.27172875_27172884del | CA2783315665 | TEK | c.760+128_760+137del (n.760+128_760+137del) c.319+128_319+137del (n.319+128_319+137del) c.448+128_448+137del (n.448+128_448+137del) | |
9 | g.27172876_27172884del | CA2783315666 | TEK | c.760+129_760+137del (n.760+129_760+137del) c.319+129_319+137del (n.319+129_319+137del) c.448+129_448+137del (n.448+129_448+137del) | |
9 | g.27172875_27172876insA | CA2783315667 | TEK | c.760+128_760+129insA (n.760+128_760+129insA) c.319+128_319+129insA (n.319+128_319+129insA) c.448+128_448+129insA (n.448+128_448+129insA) | |
9 | g.27172876del | CA2783315668 | TEK | c.760+129del (n.760+129del) c.319+129del (n.319+129del) c.448+129del (n.448+129del) | |
9 | g.27172876G>A | CA2783315669 | TEK | c.760+129G>A (n.760+129G>A) c.319+129G>A (n.319+129G>A) c.448+129G>A (n.448+129G>A) | |
9 | g.27172876G>C | CA2689641350 | TEK | c.760+129G>C (n.760+129G>C) c.319+129G>C (n.319+129G>C) c.448+129G>C (n.448+129G>C) | gnomAD v4 |
9 | g.27172876G= | CA1842021056 | TEK | c.760+129G= (n.760+129G=) c.319+129G= (n.319+129G=) c.448+129G= (n.448+129G=) | |
9 | g.27172876G>T | CA191325844 | TEK | c.760+129G>T (n.760+129G>T) c.319+129G>T (n.319+129G>T) c.448+129G>T (n.448+129G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27172877T>C | CA2689641351 | TEK | c.760+130T>C (n.760+130T>C) c.319+130T>C (n.319+130T>C) c.448+130T>C (n.448+130T>C) | gnomAD v4 |
9 | g.27172877T>G | CA2783315671 | TEK | c.760+130T>G (n.760+130T>G) c.319+130T>G (n.319+130T>G) c.448+130T>G (n.448+130T>G) | |
9 | g.27172878_27172884del | CA2783315670 | TEK | c.760+131_760+137del (n.760+131_760+137del) c.319+131_319+137del (n.319+131_319+137del) c.448+131_448+137del (n.448+131_448+137del) | |
9 | g.27172877_27172878insACA | CA2783315672 | TEK | c.760+130_760+131insACA (n.760+130_760+131insACA) c.319+130_319+131insACA (n.319+130_319+131insACA) c.448+130_448+131insACA (n.448+130_448+131insACA) | |
9 | g.27172877_27172878insAGATCTCG | CA2689641352 | TEK | c.760+130_760+131insAGATCTCG (n.760+130_760+131insAGATCTCG) c.319+130_319+131insAGATCTCG (n.319+130_319+131insAGATCTCG) c.448+130_448+131insAGATCTCG (n.448+130_448+131insAGATCTCG) | gnomAD v4 |
9 | g.27172878G>A | CA2783315674 | TEK | c.760+131G>A (n.760+131G>A) c.319+131G>A (n.319+131G>A) c.448+131G>A (n.448+131G>A) | |
9 | g.27172878G>C | CA191325848 | TEK | c.760+131G>C (n.760+131G>C) c.319+131G>C (n.319+131G>C) c.448+131G>C (n.448+131G>C) | dbSNP gnomAD v4 |
9 | g.27172878G= | CA1842021057 | TEK | c.760+131G= (n.760+131G=) c.319+131G= (n.319+131G=) c.448+131G= (n.448+131G=) | |
9 | g.27172878G>T | CA2689641353 | TEK | c.760+131G>T (n.760+131G>T) c.319+131G>T (n.319+131G>T) c.448+131G>T (n.448+131G>T) | gnomAD v4 |
9 | g.27172878_27172879insACTT | CA2783315675 | TEK | c.760+131_760+132insACTT (n.760+131_760+132insACTT) c.319+131_319+132insACTT (n.319+131_319+132insACTT) c.448+131_448+132insACTT (n.448+131_448+132insACTT) | |
9 | g.27172879_27172881del | CA2783315676 | TEK | c.760+132_760+134del (n.760+132_760+134del) c.319+132_319+134del (n.319+132_319+134del) c.448+132_448+134del (n.448+132_448+134del) | |
9 | g.27172879_27172880insAGA | CA2783315678 | TEK | c.760+132_760+133insAGA (n.760+132_760+133insAGA) c.319+132_319+133insAGA (n.319+132_319+133insAGA) c.448+132_448+133insAGA (n.448+132_448+133insAGA) | |
9 | g.27172880G>A | CA2689641354 | TEK | c.760+133G>A (n.760+133G>A) c.319+133G>A (n.319+133G>A) c.448+133G>A (n.448+133G>A) | gnomAD v4 |
9 | g.27172880G>T | CA2689641355 | TEK | c.760+133G>T (n.760+133G>T) c.319+133G>T (n.319+133G>T) c.448+133G>T (n.448+133G>T) | gnomAD v4 |
9 | g.27172882A>C | CA2783315679 | TEK | c.760+135A>C (n.760+135A>C) c.319+135A>C (n.319+135A>C) c.448+135A>C (n.448+135A>C) | |
9 | g.27172883T>A | CA2783315681 | TEK | c.760+136T>A (n.760+136T>A) c.319+136T>A (n.319+136T>A) c.448+136T>A (n.448+136T>A) | |
9 | g.27172883T>C | CA2783315680 | TEK | c.760+136T>C (n.760+136T>C) c.319+136T>C (n.319+136T>C) c.448+136T>C (n.448+136T>C) | |
9 | g.27172883T>G | CA2689641356 | TEK | c.760+136T>G (n.760+136T>G) c.319+136T>G (n.319+136T>G) c.448+136T>G (n.448+136T>G) | gnomAD v4 |
9 | g.27172884T>A | CA2689641357 | TEK | c.760+137T>A (n.760+137T>A) c.319+137T>A (n.319+137T>A) c.448+137T>A (n.448+137T>A) | gnomAD v4 |
9 | g.27172884T>C | CA2783315683 | TEK | c.760+137T>C (n.760+137T>C) c.319+137T>C (n.319+137T>C) c.448+137T>C (n.448+137T>C) | |
9 | g.27172884_27172888del | CA2783315682 | TEK | c.760+137_760+141del (n.760+137_760+141del) c.319+137_319+141del (n.319+137_319+141del) c.448+137_448+141del (n.448+137_448+141del) | |
9 | g.27172885A>C | CA2783315684 | TEK | c.760+138A>C (n.760+138A>C) c.319+138A>C (n.319+138A>C) c.448+138A>C (n.448+138A>C) | |
9 | g.27172886G>A | CA2689641360 | TEK | c.760+139G>A (n.760+139G>A) c.319+139G>A (n.319+139G>A) c.448+139G>A (n.448+139G>A) | gnomAD v4 |
9 | g.27172886G>C | CA2689641358 | TEK | c.760+139G>C (n.760+139G>C) c.319+139G>C (n.319+139G>C) c.448+139G>C (n.448+139G>C) | gnomAD v4 |
9 | g.27172886G>T | CA2689641359 | TEK | c.760+139G>T (n.760+139G>T) c.319+139G>T (n.319+139G>T) c.448+139G>T (n.448+139G>T) | gnomAD v4 |
9 | g.27172887A= | CA1842021059 | TEK | c.760+140A= (n.760+140A=) c.319+140A= (n.319+140A=) c.448+140A= (n.448+140A=) | |
9 | g.27172887A>C | CA2783315687 | TEK | c.760+140A>C (n.760+140A>C) c.319+140A>C (n.319+140A>C) c.448+140A>C (n.448+140A>C) | |
9 | g.27172887A>G | CA191325851 | TEK | c.760+140A>G (n.760+140A>G) c.319+140A>G (n.319+140A>G) c.448+140A>G (n.448+140A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27172891dup | CA2689641361 | TEK | c.760+144dup (n.760+144dup) c.319+144dup (n.319+144dup) c.448+144dup (n.448+144dup) | gnomAD v4 |
9 | g.27172891del | CA2689641362 | TEK | c.760+144del (n.760+144del) c.319+144del (n.319+144del) c.448+144del (n.448+144del) | gnomAD v4 |
9 | g.27172890_27172891del | CA2783315686 | TEK | c.760+143_760+144del (n.760+143_760+144del) c.319+143_319+144del (n.319+143_319+144del) c.448+143_448+144del (n.448+143_448+144del) | |
9 | g.27172888A>G | CA2783315688 | TEK | c.760+141A>G (n.760+141A>G) c.319+141A>G (n.319+141A>G) c.448+141A>G (n.448+141A>G) | |
9 | g.27172889A>C | CA2783315689 | TEK | c.760+142A>C (n.760+142A>C) c.319+142A>C (n.319+142A>C) c.448+142A>C (n.448+142A>C) | |
9 | g.27172890A= | CA1842021066 | TEK | c.760+143A= (n.760+143A=) c.319+143A= (n.319+143A=) c.448+143A= (n.448+143A=) | |
9 | g.27172890A>C | CA2783315691 | TEK | c.760+143A>C (n.760+143A>C) c.319+143A>C (n.319+143A>C) c.448+143A>C (n.448+143A>C) | |
9 | g.27172890A>G | CA862769314 | TEK | c.760+143A>G (n.760+143A>G) c.319+143A>G (n.319+143A>G) c.448+143A>G (n.448+143A>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27172890_27172891insCAT | CA2783315693 | TEK | c.760+143_760+144insCAT (n.760+143_760+144insCAT) c.319+143_319+144insCAT (n.319+143_319+144insCAT) c.448+143_448+144insCAT (n.448+143_448+144insCAT) | |
9 | g.27172891A= | CA1842021068 | TEK | c.760+144A= (n.760+144A=) c.319+144A= (n.319+144A=) c.448+144A= (n.448+144A=) | |
9 | g.27172891A>C | CA2783315694 | TEK | c.760+144A>C (n.760+144A>C) c.319+144A>C (n.319+144A>C) c.448+144A>C (n.448+144A>C) | |
9 | g.27172891A>G | CA1842021069 | TEK | c.760+144A>G (n.760+144A>G) c.319+144A>G (n.319+144A>G) c.448+144A>G (n.448+144A>G) | dbSNP gnomAD v4 |
9 | g.27172892G>A | CA2689641363 | TEK | c.760+145G>A (n.760+145G>A) c.319+145G>A (n.319+145G>A) c.448+145G>A (n.448+145G>A) | gnomAD v4 |
9 | g.27172892G>C | CA2689641364 | TEK | c.760+145G>C (n.760+145G>C) c.319+145G>C (n.319+145G>C) c.448+145G>C (n.448+145G>C) | gnomAD v4 |
9 | g.27172892G>T | CA2689641365 | TEK | c.760+145G>T (n.760+145G>T) c.319+145G>T (n.319+145G>T) c.448+145G>T (n.448+145G>T) | gnomAD v4 |
9 | g.27172892_27172895del | CA2783315695 | TEK | c.760+145_760+148del (n.760+145_760+148del) c.319+145_319+148del (n.319+145_319+148del) c.448+145_448+148del (n.448+145_448+148del) | |
9 | g.27172893G>A | CA1122570398 | TEK | c.760+146G>A (n.760+146G>A) c.319+146G>A (n.319+146G>A) c.448+146G>A (n.448+146G>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27172893G= | CA1842021070 | TEK | c.760+146G= (n.760+146G=) c.319+146G= (n.319+146G=) c.448+146G= (n.448+146G=) | |
9 | g.27172893G>T | CA2689641366 | TEK | c.760+146G>T (n.760+146G>T) c.319+146G>T (n.319+146G>T) c.448+146G>T (n.448+146G>T) | gnomAD v4 |
9 | g.27172893_27172894insAC | CA2783315697 | TEK | c.760+146_760+147insAC (n.760+146_760+147insAC) c.319+146_319+147insAC (n.319+146_319+147insAC) c.448+146_448+147insAC (n.448+146_448+147insAC) | |
9 | g.27172893_27172894insAGA | CA2783315698 | TEK | c.760+146_760+147insAGA (n.760+146_760+147insAGA) c.319+146_319+147insAGA (n.319+146_319+147insAGA) c.448+146_448+147insAGA (n.448+146_448+147insAGA) | |
9 | g.27172894T>A | CA2783315700 | TEK | c.760+147T>A (n.760+147T>A) c.319+147T>A (n.319+147T>A) c.448+147T>A (n.448+147T>A) | |
9 | g.27172894T>C | CA2689641367 | TEK | c.760+147T>C (n.760+147T>C) c.319+147T>C (n.319+147T>C) c.448+147T>C (n.448+147T>C) | gnomAD v4 |
9 | g.27172895G>A | CA862769315 | TEK | c.760+148G>A (n.760+148G>A) c.319+148G>A (n.319+148G>A) c.448+148G>A (n.448+148G>A) | dbSNP gnomAD v4 |
9 | g.27172895G>C | CA2783315701 | TEK | c.760+148G>C (n.760+148G>C) c.319+148G>C (n.319+148G>C) c.448+148G>C (n.448+148G>C) | |
9 | g.27172895G= | CA1842021073 | TEK | c.760+148G= (n.760+148G=) c.319+148G= (n.319+148G=) c.448+148G= (n.448+148G=) | |
9 | g.27172895G>T | CA2689641368 | TEK | c.760+148G>T (n.760+148G>T) c.319+148G>T (n.319+148G>T) c.448+148G>T (n.448+148G>T) | gnomAD v4 |
9 | g.27172896C>A | CA1842021079 | TEK | c.760+149C>A (n.760+149C>A) c.319+149C>A (n.319+149C>A) c.448+149C>A (n.448+149C>A) | dbSNP gnomAD v4 |
9 | g.27172896C= | CA1842021077 | TEK | c.760+149C= (n.760+149C=) c.319+149C= (n.319+149C=) c.448+149C= (n.448+149C=) | |
9 | g.27172896C>G | CA2502491161 | TEK | c.760+149C>G (n.760+149C>G) c.319+149C>G (n.319+149C>G) c.448+149C>G (n.448+149C>G) | gnomAD v4 |
9 | g.27172896C>T | CA191325859 | TEK | c.760+149C>T (n.760+149C>T) c.319+149C>T (n.319+149C>T) c.448+149C>T (n.448+149C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27172897del | CA2689641369 | TEK | c.760+150del (n.760+150del) c.319+150del (n.319+150del) c.448+150del (n.448+150del) | gnomAD v4 |
9 | g.27172896_27172897insA | CA2783315702 | TEK | c.760+149_760+150insA (n.760+149_760+150insA) c.319+149_319+150insA (n.319+149_319+150insA) c.448+149_448+150insA (n.448+149_448+150insA) | |
9 | g.27172896_27172897insACA | CA2783315703 | TEK | c.760+149_760+150insACA (n.760+149_760+150insACA) c.319+149_319+150insACA (n.319+149_319+150insACA) c.448+149_448+150insACA (n.448+149_448+150insACA) | |
9 | g.27172897C>A | CA2783315705 | TEK | c.760+150C>A (n.760+150C>A) c.319+150C>A (n.319+150C>A) c.448+150C>A (n.448+150C>A) | |
9 | g.27172897C= | CA1842021085 | TEK | c.760+150C= (n.760+150C=) c.319+150C= (n.319+150C=) c.448+150C= (n.448+150C=) | |
9 | g.27172897C>G | CA1122570402 | TEK | c.760+150C>G (n.760+150C>G) c.319+150C>G (n.319+150C>G) c.448+150C>G (n.448+150C>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27172897C>T | CA2689641370 | TEK | c.760+150C>T (n.760+150C>T) c.319+150C>T (n.319+150C>T) c.448+150C>T (n.448+150C>T) | gnomAD v4 |
9 | g.27172897_27172898delinsCT | CA1842021081 | TEK | c.760+150_760+151delinsCT (n.760+150_760+151delinsCT) c.319+150_319+151delinsCT (n.319+150_319+151delinsCT) c.448+150_448+151delinsCT (n.448+150_448+151delinsCT) | |
9 | g.27172897_27172904del | CA2783315704 | TEK | c.760+150_760+157del (n.760+150_760+157del) c.319+150_319+157del (n.319+150_319+157del) c.448+150_448+157del (n.448+150_448+157del) | |
9 | g.27172898T>A | CA2783315708 | TEK | c.760+151T>A (n.760+151T>A) c.319+151T>A (n.319+151T>A) c.448+151T>A (n.448+151T>A) | |
9 | g.27172898T>G | CA2783315706 | TEK | c.760+151T>G (n.760+151T>G) c.319+151T>G (n.319+151T>G) c.448+151T>G (n.448+151T>G) | |
9 | g.27172901del | CA191325862 | TEK | c.760+154del (n.760+154del) c.319+154del (n.319+154del) c.448+154del (n.448+154del) | dbSNP gnomAD v4 |
9 | g.27172900_27172901del | CA2783315707 | TEK | c.760+153_760+154del (n.760+153_760+154del) c.319+153_319+154del (n.319+153_319+154del) c.448+153_448+154del (n.448+153_448+154del) | |
9 | g.27172898_27172905del | CA2783315709 | TEK | c.760+151_760+158del (n.760+151_760+158del) c.319+151_319+158del (n.319+151_319+158del) c.448+151_448+158del (n.448+151_448+158del) | |
9 | g.27172899T>A | CA2783315710 | TEK | c.760+152T>A (n.760+152T>A) c.319+152T>A (n.319+152T>A) c.448+152T>A (n.448+152T>A) | |
9 | g.27172899_27172900insACA | CA2783315711 | TEK | c.760+152_760+153insACA (n.760+152_760+153insACA) c.319+152_319+153insACA (n.319+152_319+153insACA) c.448+152_448+153insACA (n.448+152_448+153insACA) | |
9 | g.27172900T>C | CA2783315713 | TEK | c.760+153T>C (n.760+153T>C) c.319+153T>C (n.319+153T>C) c.448+153T>C (n.448+153T>C) | |
9 | g.27172900T>G | CA2783315714 | TEK | c.760+153T>G (n.760+153T>G) c.319+153T>G (n.319+153T>G) c.448+153T>G (n.448+153T>G) | |
9 | g.27172901_27172904del | CA2783315712 | TEK | c.760+154_760+157del (n.760+154_760+157del) c.319+154_319+157del (n.319+154_319+157del) c.448+154_448+157del (n.448+154_448+157del) | |
9 | g.27172900_27172901insAGA | CA2783315715 | TEK | c.760+153_760+154insAGA (n.760+153_760+154insAGA) c.319+153_319+154insAGA (n.319+153_319+154insAGA) c.448+153_448+154insAGA (n.448+153_448+154insAGA) | |
9 | g.27172901T>A | CA2783315718 | TEK | c.760+154T>A (n.760+154T>A) c.319+154T>A (n.319+154T>A) c.448+154T>A (n.448+154T>A) | |
9 | g.27172902_27172904del | CA2783315716 | TEK | c.760+155_760+157del (n.760+155_760+157del) c.319+155_319+157del (n.319+155_319+157del) c.448+155_448+157del (n.448+155_448+157del) | |
9 | g.27172902C>A | CA2783315720 | TEK | c.760+155C>A (n.760+155C>A) c.319+155C>A (n.319+155C>A) c.448+155C>A (n.448+155C>A) | |
9 | g.27172902C>T | CA2830546104 | TEK | c.760+155C>T (n.760+155C>T) c.319+155C>T (n.319+155C>T) c.448+155C>T (n.448+155C>T) | |
9 | g.27172902_27172906del | CA2783315719 | TEK | c.760+155_760+159del (n.760+155_760+159del) c.319+155_319+159del (n.319+155_319+159del) c.448+155_448+159del (n.448+155_448+159del) | |
9 | g.27172903C>A | CA2783315721 | TEK | c.760+156C>A (n.760+156C>A) c.319+156C>A (n.319+156C>A) c.448+156C>A (n.448+156C>A) | |
9 | g.27172903C= | CA1842021094 | TEK | c.760+156C= (n.760+156C=) c.319+156C= (n.319+156C=) c.448+156C= (n.448+156C=) | |
9 | g.27172903C>T | CA1122570403 | TEK | c.760+156C>T (n.760+156C>T) c.319+156C>T (n.319+156C>T) c.448+156C>T (n.448+156C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27172904del | CA2783315722 | TEK | c.760+157del (n.760+157del) c.319+157del (n.319+157del) c.448+157del (n.448+157del) | |
9 | g.27172905_27172906insCTT | CA2783315725 | TEK | c.760+158_760+159insCTT (n.760+158_760+159insCTT) c.319+158_319+159insCTT (n.319+158_319+159insCTT) c.448+158_448+159insCTT (n.448+158_448+159insCTT) | |
9 | g.27172906A>C | CA2783315723 | TEK | c.760+159A>C (n.760+159A>C) c.319+159A>C (n.319+159A>C) c.448+159A>C (n.448+159A>C) | |
9 | g.27172906A>G | CA2783315724 | TEK | c.760+159A>G (n.760+159A>G) c.319+159A>G (n.319+159A>G) c.448+159A>G (n.448+159A>G) | |
9 | g.27172906_27172907insTTCAC | CA2830546105 | TEK | c.760+159_760+160insTTCAC (n.760+159_760+160insTTCAC) c.319+159_319+160insTTCAC (n.319+159_319+160insTTCAC) c.448+159_448+160insTTCAC (n.448+159_448+160insTTCAC) | |
9 | g.27172907A>C | CA2783315726 | TEK | c.760+160A>C (n.760+160A>C) c.319+160A>C (n.319+160A>C) c.448+160A>C (n.448+160A>C) | |
9 | g.27172907_27172908delinsAG | CA1842021099 | TEK | c.760+160_760+161delinsAG (n.760+160_760+161delinsAG) c.319+160_319+161delinsAG (n.319+160_319+161delinsAG) c.448+160_448+161delinsAG (n.448+160_448+161delinsAG) | |
9 | g.27172908G>A | CA191325865 | TEK | c.760+161G>A (n.760+161G>A) c.319+161G>A (n.319+161G>A) c.448+161G>A (n.448+161G>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27172908G= | CA1842021116 | TEK | c.760+161G= (n.760+161G=) c.319+161G= (n.319+161G=) c.448+161G= (n.448+161G=) | |
9 | g.27172908G>T | CA1842021112 | TEK | c.760+161G>T (n.760+161G>T) c.319+161G>T (n.319+161G>T) c.448+161G>T (n.448+161G>T) | dbSNP |
9 | g.27172909del | CA1842021109 | TEK | c.760+162del (n.760+162del) c.319+162del (n.319+162del) c.448+162del (n.448+162del) | dbSNP |
9 | g.27172908_27172909insACA | CA2783315727 | TEK | c.760+161_760+162insACA (n.760+161_760+162insACA) c.319+161_319+162insACA (n.319+161_319+162insACA) c.448+161_448+162insACA (n.448+161_448+162insACA) | |
9 | g.27172909G>A | CA2783315728 | TEK | c.760+162G>A (n.760+162G>A) c.319+162G>A (n.319+162G>A) c.448+162G>A (n.448+162G>A) | |
9 | g.27172911T>C | CA191325869 | TEK | c.760+164T>C (n.760+164T>C) c.319+164T>C (n.319+164T>C) c.448+164T>C (n.448+164T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27172911T= | CA1842021120 | TEK | c.760+164T= (n.760+164T=) c.319+164T= (n.319+164T=) c.448+164T= (n.448+164T=) | |
9 | g.27172912C>A | CA2516915034 | TEK | c.760+165C>A (n.760+165C>A) c.319+165C>A (n.319+165C>A) c.448+165C>A (n.448+165C>A) | |
9 | g.27172912_27172913insAG | CA2783315732 | TEK | c.760+165_760+166insAG (n.760+165_760+166insAG) c.319+165_319+166insAG (n.319+165_319+166insAG) c.448+165_448+166insAG (n.448+165_448+166insAG) | |
9 | g.27172912_27172913insACA | CA2783315730 | TEK | c.760+165_760+166insACA (n.760+165_760+166insACA) c.319+165_319+166insACA (n.319+165_319+166insACA) c.448+165_448+166insACA (n.448+165_448+166insACA) | |
9 | g.27172913T>G | CA2783315734 | TEK | c.760+166T>G (n.760+166T>G) c.319+166T>G (n.319+166T>G) c.448+166T>G (n.448+166T>G) | |
9 | g.27172913_27172915del | CA2783315733 | TEK | c.760+166_760+168del (n.760+166_760+168del) c.319+166_319+168del (n.319+166_319+168del) c.448+166_448+168del (n.448+166_448+168del) | |
9 | g.27172914T>A | CA2783315735 | TEK | c.760+167T>A (n.760+167T>A) c.319+167T>A (n.319+167T>A) c.448+167T>A (n.448+167T>A) | |
9 | g.27172914T>G | CA2783315736 | TEK | c.760+167T>G (n.760+167T>G) c.319+167T>G (n.319+167T>G) c.448+167T>G (n.448+167T>G) | |
9 | g.27172915T>C | CA587124009 | TEK | c.760+168T>C (n.760+168T>C) c.319+168T>C (n.319+168T>C) c.448+168T>C (n.448+168T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27172915T>G | CA2783315737 | TEK | c.760+168T>G (n.760+168T>G) c.319+168T>G (n.319+168T>G) c.448+168T>G (n.448+168T>G) | |
9 | g.27172915T= | CA1842021123 | TEK | c.760+168T= (n.760+168T=) c.319+168T= (n.319+168T=) c.448+168T= (n.448+168T=) | |
9 | g.27172915_27172916del | CA2783315738 | TEK | c.760+168_760+169del (n.760+168_760+169del) c.319+168_319+169del (n.319+168_319+169del) c.448+168_448+169del (n.448+168_448+169del) | |
9 | g.27172916_27172917insGAG | CA2783315739 | TEK | c.760+169_760+170insGAG (n.760+169_760+170insGAG) c.319+169_319+170insGAG (n.319+169_319+170insGAG) c.448+169_448+170insGAG (n.448+169_448+170insGAG) | |
9 | g.27172917A= | CA1842021130 | TEK | c.760+170A= (n.760+170A=) c.319+170A= (n.319+170A=) c.448+170A= (n.448+170A=) | |
9 | g.27172917A>G | CA1842021128 | TEK | c.760+170A>G (n.760+170A>G) c.319+170A>G (n.319+170A>G) c.448+170A>G (n.448+170A>G) | dbSNP |
9 | g.27172917_27172920del | CA2783315740 | TEK | c.760+170_760+173del (n.760+170_760+173del) c.319+170_319+173del (n.319+170_319+173del) c.448+170_448+173del (n.448+170_448+173del) | |
9 | g.27172917_27172918insGT | CA2783315741 | TEK | c.760+170_760+171insGT (n.760+170_760+171insGT) c.319+170_319+171insGT (n.319+170_319+171insGT) c.448+170_448+171insGT (n.448+170_448+171insGT) | |
9 | g.27172918T>C | CA191325871 | TEK | c.760+171T>C (n.760+171T>C) c.319+171T>C (n.319+171T>C) c.448+171T>C (n.448+171T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27172918T= | CA1842021131 | TEK | c.760+171T= (n.760+171T=) c.319+171T= (n.319+171T=) c.448+171T= (n.448+171T=) | |
9 | g.27172918_27172925del | CA2783315742 | TEK | c.760+171_760+178del (n.760+171_760+178del) c.319+171_319+178del (n.319+171_319+178del) c.448+171_448+178del (n.448+171_448+178del) | |
9 | g.27172918_27172919insACA | CA2783315743 | TEK | c.760+171_760+172insACA (n.760+171_760+172insACA) c.319+171_319+172insACA (n.319+171_319+172insACA) c.448+171_448+172insACA (n.448+171_448+172insACA) | |
9 | g.27172918_27172919insAGA | CA2783315744 | TEK | c.760+171_760+172insAGA (n.760+171_760+172insAGA) c.319+171_319+172insAGA (n.319+171_319+172insAGA) c.448+171_448+172insAGA (n.448+171_448+172insAGA) | |
9 | g.27172919_27172925del | CA2783315745 | TEK | c.760+172_760+178del (n.760+172_760+178del) c.319+172_319+178del (n.319+172_319+178del) c.448+172_448+178del (n.448+172_448+178del) | |
9 | g.27172920C= | CA1842021133 | TEK | c.760+173C= (n.760+173C=) c.319+173C= (n.319+173C=) c.448+173C= (n.448+173C=) | |
9 | g.27172920C>T | CA191325874 | TEK | c.760+173C>T (n.760+173C>T) c.319+173C>T (n.319+173C>T) c.448+173C>T (n.448+173C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27172920_27172921insACG | CA2783315746 | TEK | c.760+173_760+174insACG (n.760+173_760+174insACG) c.319+173_319+174insACG (n.319+173_319+174insACG) c.448+173_448+174insACG (n.448+173_448+174insACG) | |
9 | g.27172923A= | CA1842021136 | TEK | c.760+176A= (n.760+176A=) c.319+176A= (n.319+176A=) c.448+176A= (n.448+176A=) | |
9 | g.27172923A>C | CA1842021137 | TEK | c.760+176A>C (n.760+176A>C) c.319+176A>C (n.319+176A>C) c.448+176A>C (n.448+176A>C) | dbSNP |
9 | g.27172923A>T | CA862769321 | TEK | c.760+176A>T (n.760+176A>T) c.319+176A>T (n.319+176A>T) c.448+176A>T (n.448+176A>T) | dbSNP |
9 | g.27172924C= | CA1842021138 | TEK | c.760+177C= (n.760+177C=) c.319+177C= (n.319+177C=) c.448+177C= (n.448+177C=) | |
9 | g.27172924C>T | CA587124011 | TEK | c.760+177C>T (n.760+177C>T) c.319+177C>T (n.319+177C>T) c.448+177C>T (n.448+177C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27172925del | CA2783315747 | TEK | c.760+178del (n.760+178del) c.319+178del (n.319+178del) c.448+178del (n.448+178del) | |
9 | g.27172926A= | CA1842021139 | TEK | c.760+179A= (n.760+179A=) c.319+179A= (n.319+179A=) c.448+179A= (n.448+179A=) | |
9 | g.27172926A>G | CA862769322 | TEK | c.760+179A>G (n.760+179A>G) c.319+179A>G (n.319+179A>G) c.448+179A>G (n.448+179A>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27172928T>A | CA2783315748 | TEK | c.760+181T>A (n.760+181T>A) c.319+181T>A (n.319+181T>A) c.448+181T>A (n.448+181T>A) | |
9 | g.27172928T= | CA1842021140 | TEK | c.760+181T= (n.760+181T=) c.319+181T= (n.319+181T=) c.448+181T= (n.448+181T=) | |
9 | g.27172929G>A | CA1842021145 | TEK | c.760+182G>A (n.760+182G>A) c.319+182G>A (n.319+182G>A) c.448+182G>A (n.448+182G>A) | dbSNP |
9 | g.27172929G>C | CA2783315749 | TEK | c.760+182G>C (n.760+182G>C) c.319+182G>C (n.319+182G>C) c.448+182G>C (n.448+182G>C) | |
9 | g.27172929G= | CA1842021142 | TEK | c.760+182G= (n.760+182G=) c.319+182G= (n.319+182G=) c.448+182G= (n.448+182G=) | |
9 | g.27172930dup | CA587124013 | TEK | c.760+183dup (n.760+183dup) c.319+183dup (n.319+183dup) c.448+183dup (n.448+183dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27172930G>A | CA191325877 | TEK | c.760+183G>A (n.760+183G>A) c.319+183G>A (n.319+183G>A) c.448+183G>A (n.448+183G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27172930G>C | CA1122570419 | TEK | c.760+183G>C (n.760+183G>C) c.319+183G>C (n.319+183G>C) c.448+183G>C (n.448+183G>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27172930G= | CA1842021151 | TEK | c.760+183G= (n.760+183G=) c.319+183G= (n.319+183G=) c.448+183G= (n.448+183G=) | |
9 | g.27172931A= | CA1842021155 | TEK | c.760+184A= (n.760+184A=) c.319+184A= (n.319+184A=) c.448+184A= (n.448+184A=) | |
9 | g.27172931A>C | CA862769323 | TEK | c.760+184A>C (n.760+184A>C) c.319+184A>C (n.319+184A>C) c.448+184A>C (n.448+184A>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27172931A>G | CA191325880 | TEK | c.760+184A>G (n.760+184A>G) c.319+184A>G (n.319+184A>G) c.448+184A>G (n.448+184A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27172932_27172933insGAG | CA2783315750 | TEK | c.760+185_760+186insGAG (n.760+185_760+186insGAG) c.319+185_319+186insGAG (n.319+185_319+186insGAG) c.448+185_448+186insGAG (n.448+185_448+186insGAG) | |
9 | g.27172934G>A | CA1842021163 | TEK | c.760+187G>A (n.760+187G>A) c.319+187G>A (n.319+187G>A) c.448+187G>A (n.448+187G>A) | dbSNP |
9 | g.27172934G= | CA1842021160 | TEK | c.760+187G= (n.760+187G=) c.319+187G= (n.319+187G=) c.448+187G= (n.448+187G=) | |
9 | g.27172934_27172935insAC | CA2783315751 | TEK | c.760+187_760+188insAC (n.760+187_760+188insAC) c.319+187_319+188insAC (n.319+187_319+188insAC) c.448+187_448+188insAC (n.448+187_448+188insAC) | |
9 | g.27172936T>A | CA2783315753 | TEK | c.760+189T>A (n.760+189T>A) c.319+189T>A (n.319+189T>A) c.448+189T>A (n.448+189T>A) | |
9 | g.27172938_27173136del | CA2783315752 | TEK | c.760+191_761-86del (n.760+191_761-86del) c.319+191_320-86del (n.319+191_320-86del) c.448+191_449-86del (n.448+191_449-86del) | |
9 | g.27172937A= | CA1842021167 | TEK | c.760+190A= (n.760+190A=) c.319+190A= (n.319+190A=) c.448+190A= (n.448+190A=) | |
9 | g.27172937A>G | CA191325884 | TEK | c.760+190A>G (n.760+190A>G) c.319+190A>G (n.319+190A>G) c.448+190A>G (n.448+190A>G) | dbSNP |
9 | g.27172937A>T | CA1842021164 | TEK | c.760+190A>T (n.760+190A>T) c.319+190A>T (n.319+190A>T) c.448+190A>T (n.448+190A>T) | dbSNP |
9 | g.27172939A= | CA1842021172 | TEK | c.760+192A= (n.760+192A=) c.319+192A= (n.319+192A=) c.448+192A= (n.448+192A=) | |
9 | g.27172939A>G | CA1842021173 | TEK | c.760+192A>G (n.760+192A>G) c.319+192A>G (n.319+192A>G) c.448+192A>G (n.448+192A>G) | dbSNP |
9 | g.27172945T>G | CA2514715821 | TEK | c.760+198T>G (n.760+198T>G) c.319+198T>G (n.319+198T>G) c.448+198T>G (n.448+198T>G) |