Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.27183398A= | CA1842031054 | TEK | c.1031-61A= (n.1031-61A=) c.902-61A= (n.902-61A=) c.461-61A= (n.461-61A=) c.590-61A= (n.590-61A=) | |
9 | g.27183398A>C | CA2579318939 | TEK | c.1031-61A>C (n.1031-61A>C) c.902-61A>C (n.902-61A>C) c.461-61A>C (n.461-61A>C) c.590-61A>C (n.590-61A>C) | gnomAD v4 |
9 | g.27183398A>G | CA191331490 | TEK | c.1031-61A>G (n.1031-61A>G) c.902-61A>G (n.902-61A>G) c.461-61A>G (n.461-61A>G) c.590-61A>G (n.590-61A>G) | dbSNP gnomAD v4 |
9 | g.27183398A>T | CA2579318940 | TEK | c.1031-61A>T (n.1031-61A>T) c.902-61A>T (n.902-61A>T) c.461-61A>T (n.461-61A>T) c.590-61A>T (n.590-61A>T) | |
9 | g.27183402C>A | CA2579318941 | TEK | c.1031-57C>A (n.1031-57C>A) c.902-57C>A (n.902-57C>A) c.461-57C>A (n.461-57C>A) c.590-57C>A (n.590-57C>A) | |
9 | g.27183402C>T | CA2689641748 | TEK | c.1031-57C>T (n.1031-57C>T) c.902-57C>T (n.902-57C>T) c.461-57C>T (n.461-57C>T) c.590-57C>T (n.590-57C>T) | gnomAD v4 |
9 | g.27183404A= | CA1842031055 | TEK | c.1031-55A= (n.1031-55A=) c.902-55A= (n.902-55A=) c.461-55A= (n.461-55A=) c.590-55A= (n.590-55A=) | |
9 | g.27183404A>C | CA862746814 | TEK | c.1031-55A>C (n.1031-55A>C) c.902-55A>C (n.902-55A>C) c.461-55A>C (n.461-55A>C) c.590-55A>C (n.590-55A>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27183404A>G | CA191331494 | TEK | c.1031-55A>G (n.1031-55A>G) c.902-55A>G (n.902-55A>G) c.461-55A>G (n.461-55A>G) c.590-55A>G (n.590-55A>G) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
9 | g.27183404A>T | CA2579318942 | TEK | c.1031-55A>T (n.1031-55A>T) c.902-55A>T (n.902-55A>T) c.461-55A>T (n.461-55A>T) c.590-55A>T (n.590-55A>T) | gnomAD v4 |
9 | g.27183405C>G | CA2719041747 | TEK | c.1031-54C>G (n.1031-54C>G) c.902-54C>G (n.902-54C>G) c.461-54C>G (n.461-54C>G) c.590-54C>G (n.590-54C>G) | dbSNP |
9 | g.27183405_27183444del | CA2689641749 | TEK | c.1031-54_1031-15del (n.1031-54_1031-15del) c.902-54_902-15del (n.902-54_902-15del) c.461-54_461-15del (n.461-54_461-15del) c.590-54_590-15del (n.590-54_590-15del) | gnomAD v4 |
9 | g.27183407G>C | CA862746817 | TEK | c.1031-52G>C (n.1031-52G>C) c.902-52G>C (n.902-52G>C) c.461-52G>C (n.461-52G>C) c.590-52G>C (n.590-52G>C) | dbSNP gnomAD v4 |
9 | g.27183407G= | CA1842031056 | TEK | c.1031-52G= (n.1031-52G=) c.902-52G= (n.902-52G=) c.461-52G= (n.461-52G=) c.590-52G= (n.590-52G=) | |
9 | g.27183408C>A | CA2689641750 | TEK | c.1031-51C>A (n.1031-51C>A) c.902-51C>A (n.902-51C>A) c.461-51C>A (n.461-51C>A) c.590-51C>A (n.590-51C>A) | gnomAD v4 |
9 | g.27183409T>A | CA5016094 | TEK | c.1031-50T>A (n.1031-50T>A) c.902-50T>A (n.902-50T>A) c.461-50T>A (n.461-50T>A) c.590-50T>A (n.590-50T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27183409T= | CA1842031057 | TEK | c.1031-50T= (n.1031-50T=) c.902-50T= (n.902-50T=) c.461-50T= (n.461-50T=) c.590-50T= (n.590-50T=) | |
9 | g.27183410G>A | CA1842031059 | TEK | c.1031-49G>A (n.1031-49G>A) c.902-49G>A (n.902-49G>A) c.461-49G>A (n.461-49G>A) c.590-49G>A (n.590-49G>A) | dbSNP |
9 | g.27183410G>C | CA5016095 | TEK | c.1031-49G>C (n.1031-49G>C) c.902-49G>C (n.902-49G>C) c.461-49G>C (n.461-49G>C) c.590-49G>C (n.590-49G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27183410G= | CA1842031058 | TEK | c.1031-49G= (n.1031-49G=) c.902-49G= (n.902-49G=) c.461-49G= (n.461-49G=) c.590-49G= (n.590-49G=) | |
9 | g.27183410G>T | CA862746822 | TEK | c.1031-49G>T (n.1031-49G>T) c.902-49G>T (n.902-49G>T) c.461-49G>T (n.461-49G>T) c.590-49G>T (n.590-49G>T) | dbSNP |
9 | g.27183411C>A | CA2579318943 | TEK | c.1031-48C>A (n.1031-48C>A) c.902-48C>A (n.902-48C>A) c.461-48C>A (n.461-48C>A) c.590-48C>A (n.590-48C>A) | |
9 | g.27183413G>A | CA2689641751 | TEK | c.1031-46G>A (n.1031-46G>A) c.902-46G>A (n.902-46G>A) c.461-46G>A (n.461-46G>A) c.590-46G>A (n.590-46G>A) | gnomAD v4 |
9 | g.27183414G>A | CA587124569 | TEK | c.1031-45G>A (n.1031-45G>A) c.902-45G>A (n.902-45G>A) c.461-45G>A (n.461-45G>A) c.590-45G>A (n.590-45G>A) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.27183414G>C | CA2579318944 | TEK | c.1031-45G>C (n.1031-45G>C) c.902-45G>C (n.902-45G>C) c.461-45G>C (n.461-45G>C) c.590-45G>C (n.590-45G>C) | gnomAD v4 |
9 | g.27183414G= | CA1842031060 | TEK | c.1031-45G= (n.1031-45G=) c.902-45G= (n.902-45G=) c.461-45G= (n.461-45G=) c.590-45G= (n.590-45G=) | |
9 | g.27183415C>A | CA2579318945 | TEK | c.1031-44C>A (n.1031-44C>A) c.902-44C>A (n.902-44C>A) c.461-44C>A (n.461-44C>A) c.590-44C>A (n.590-44C>A) | |
9 | g.27183415C= | CA1842031061 | TEK | c.1031-44C= (n.1031-44C=) c.902-44C= (n.902-44C=) c.461-44C= (n.461-44C=) c.590-44C= (n.590-44C=) | |
9 | g.27183415C>T | CA587124570 | TEK | c.1031-44C>T (n.1031-44C>T) c.902-44C>T (n.902-44C>T) c.461-44C>T (n.461-44C>T) c.590-44C>T (n.590-44C>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.27183417C>A | CA2689641752 | TEK | c.1031-42C>A (n.1031-42C>A) c.902-42C>A (n.902-42C>A) c.461-42C>A (n.461-42C>A) c.590-42C>A (n.590-42C>A) | dbSNP gnomAD v4 |
9 | g.27183417C= | CA1842031062 | TEK | c.1031-42C= (n.1031-42C=) c.902-42C= (n.902-42C=) c.461-42C= (n.461-42C=) c.590-42C= (n.590-42C=) | |
9 | g.27183417C>T | CA5016096 | TEK | c.1031-42C>T (n.1031-42C>T) c.902-42C>T (n.902-42C>T) c.461-42C>T (n.461-42C>T) c.590-42C>T (n.590-42C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27183419G>A | CA1842031064 | TEK | c.1031-40G>A (n.1031-40G>A) c.902-40G>A (n.902-40G>A) c.461-40G>A (n.461-40G>A) c.590-40G>A (n.590-40G>A) | dbSNP |
9 | g.27183419G= | CA1842031063 | TEK | c.1031-40G= (n.1031-40G=) c.902-40G= (n.902-40G=) c.461-40G= (n.461-40G=) c.590-40G= (n.590-40G=) | |
9 | g.27183420T>C | CA5016097 | TEK | c.1031-39T>C (n.1031-39T>C) c.902-39T>C (n.902-39T>C) c.461-39T>C (n.461-39T>C) c.590-39T>C (n.590-39T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27183420T= | CA1842031065 | TEK | c.1031-39T= (n.1031-39T=) c.902-39T= (n.902-39T=) c.461-39T= (n.461-39T=) c.590-39T= (n.590-39T=) | |
9 | g.27183423A= | CA1842031066 | TEK | c.1031-36A= (n.1031-36A=) c.902-36A= (n.902-36A=) c.461-36A= (n.461-36A=) c.590-36A= (n.590-36A=) | |
9 | g.27183423A>T | CA1842031067 | TEK | c.1031-36A>T (n.1031-36A>T) c.902-36A>T (n.902-36A>T) c.461-36A>T (n.461-36A>T) c.590-36A>T (n.590-36A>T) | dbSNP |
9 | g.27183424A= | CA1842031069 | TEK | c.1031-35A= (n.1031-35A=) c.902-35A= (n.902-35A=) c.461-35A= (n.461-35A=) c.590-35A= (n.590-35A=) | |
9 | g.27183424A>G | CA1842031068 | TEK | c.1031-35A>G (n.1031-35A>G) c.902-35A>G (n.902-35A>G) c.461-35A>G (n.461-35A>G) c.590-35A>G (n.590-35A>G) | dbSNP |
9 | g.27183425T>C | CA2689641753 | TEK | c.1031-34T>C (n.1031-34T>C) c.902-34T>C (n.902-34T>C) c.461-34T>C (n.461-34T>C) c.590-34T>C (n.590-34T>C) | gnomAD v4 |
9 | g.27183429A>G | CA2579318946 | TEK | c.1031-30A>G (n.1031-30A>G) c.902-30A>G (n.902-30A>G) c.461-30A>G (n.461-30A>G) c.590-30A>G (n.590-30A>G) | gnomAD v4 |
9 | g.27183430G>C | CA587124571 | TEK | c.1031-29G>C (n.1031-29G>C) c.902-29G>C (n.902-29G>C) c.461-29G>C (n.461-29G>C) c.590-29G>C (n.590-29G>C) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.27183430G= | CA1842031070 | TEK | c.1031-29G= (n.1031-29G=) c.902-29G= (n.902-29G=) c.461-29G= (n.461-29G=) c.590-29G= (n.590-29G=) | |
9 | g.27183430G>T | CA2579318947 | TEK | c.1031-29G>T (n.1031-29G>T) c.902-29G>T (n.902-29G>T) c.461-29G>T (n.461-29G>T) c.590-29G>T (n.590-29G>T) | gnomAD v4 |
9 | g.27183431A>G | CA2579318948 | TEK | c.1031-28A>G (n.1031-28A>G) c.902-28A>G (n.902-28A>G) c.461-28A>G (n.461-28A>G) c.590-28A>G (n.590-28A>G) | gnomAD v4 |
9 | g.27183432T>G | CA1122573772 | TEK | c.1031-27T>G (n.1031-27T>G) c.902-27T>G (n.902-27T>G) c.461-27T>G (n.461-27T>G) c.590-27T>G (n.590-27T>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27183432T= | CA1842031071 | TEK | c.1031-27T= (n.1031-27T=) c.902-27T= (n.902-27T=) c.461-27T= (n.461-27T=) c.590-27T= (n.590-27T=) | |
9 | g.27183435C>A | CA2689641754 | TEK | c.1031-24C>A (n.1031-24C>A) c.902-24C>A (n.902-24C>A) c.461-24C>A (n.461-24C>A) c.590-24C>A (n.590-24C>A) | gnomAD v4 |
9 | g.27183435C= | CA1842031072 | TEK | c.1031-24C= (n.1031-24C=) c.902-24C= (n.902-24C=) c.461-24C= (n.461-24C=) c.590-24C= (n.590-24C=) | |
9 | g.27183435C>T | CA5016098 | TEK | c.1031-24C>T (n.1031-24C>T) c.902-24C>T (n.902-24C>T) c.461-24C>T (n.461-24C>T) c.590-24C>T (n.590-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27183437C= | CA1842031073 | TEK | c.1031-22C= (n.1031-22C=) c.902-22C= (n.902-22C=) c.461-22C= (n.461-22C=) c.590-22C= (n.590-22C=) | |
9 | g.27183437C>T | CA5016099 | TEK | c.1031-22C>T (n.1031-22C>T) c.902-22C>T (n.902-22C>T) c.461-22C>T (n.461-22C>T) c.590-22C>T (n.590-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27183438A= | CA1842031074 | TEK | c.1031-21A= (n.1031-21A=) c.902-21A= (n.902-21A=) c.461-21A= (n.461-21A=) c.590-21A= (n.590-21A=) | |
9 | g.27183438A>C | CA587124572 | TEK | c.1031-21A>C (n.1031-21A>C) c.902-21A>C (n.902-21A>C) c.461-21A>C (n.461-21A>C) c.590-21A>C (n.590-21A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27183439G>A | CA2689641756 | TEK | c.1031-20G>A (n.1031-20G>A) c.902-20G>A (n.902-20G>A) c.461-20G>A (n.461-20G>A) c.590-20G>A (n.590-20G>A) | gnomAD v4 |
9 | g.27183439G>C | CA2689641755 | TEK | c.1031-20G>C (n.1031-20G>C) c.902-20G>C (n.902-20G>C) c.461-20G>C (n.461-20G>C) c.590-20G>C (n.590-20G>C) | gnomAD v4 |
9 | g.27183440T>C | CA5016100 | TEK | c.1031-19T>C (n.1031-19T>C) c.902-19T>C (n.902-19T>C) c.461-19T>C (n.461-19T>C) c.590-19T>C (n.590-19T>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
9 | g.27183440T>G | CA2689641757 | TEK | c.1031-19T>G (n.1031-19T>G) c.902-19T>G (n.902-19T>G) c.461-19T>G (n.461-19T>G) c.590-19T>G (n.590-19T>G) | gnomAD v4 |
9 | g.27183440T= | CA1842031075 | TEK | c.1031-19T= (n.1031-19T=) c.902-19T= (n.902-19T=) c.461-19T= (n.461-19T=) c.590-19T= (n.590-19T=) | |
9 | g.27183441G>A | CA5016101 | TEK | c.1031-18G>A (n.1031-18G>A) c.902-18G>A (n.902-18G>A) c.461-18G>A (n.461-18G>A) c.590-18G>A (n.590-18G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27183441G= | CA1842031076 | TEK | c.1031-18G= (n.1031-18G=) c.902-18G= (n.902-18G=) c.461-18G= (n.461-18G=) c.590-18G= (n.590-18G=) | |
9 | g.27183442C>A | CA191331555 | TEK | c.1031-17C>A (n.1031-17C>A) c.902-17C>A (n.902-17C>A) c.461-17C>A (n.461-17C>A) c.590-17C>A (n.590-17C>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27183442C= | CA1842031077 | TEK | c.1031-17C= (n.1031-17C=) c.902-17C= (n.902-17C=) c.461-17C= (n.461-17C=) c.590-17C= (n.590-17C=) | |
9 | g.27183443T>C | CA5016102 | TEK | c.1031-16T>C (n.1031-16T>C) c.902-16T>C (n.902-16T>C) c.461-16T>C (n.461-16T>C) c.590-16T>C (n.590-16T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27183443T= | CA1842031078 | TEK | c.1031-16T= (n.1031-16T=) c.902-16T= (n.902-16T=) c.461-16T= (n.461-16T=) c.590-16T= (n.590-16T=) | |
9 | g.27183444G>A | CA5016104 | TEK | c.1031-15G>A (n.1031-15G>A) c.902-15G>A (n.902-15G>A) c.461-15G>A (n.461-15G>A) c.590-15G>A (n.590-15G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27183444G= | CA1842031079 | TEK | c.1031-15G= (n.1031-15G=) c.902-15G= (n.902-15G=) c.461-15G= (n.461-15G=) c.590-15G= (n.590-15G=) | |
9 | g.27183444G>T | CA5016103 | TEK | c.1031-15G>T (n.1031-15G>T) c.902-15G>T (n.902-15G>T) c.461-15G>T (n.461-15G>T) c.590-15G>T (n.590-15G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27183446T>A | CA5016105 | TEK | c.1031-13T>A (n.1031-13T>A) c.902-13T>A (n.902-13T>A) c.461-13T>A (n.461-13T>A) c.590-13T>A (n.590-13T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27183446T>G | CA2689641758 | TEK | c.1031-13T>G (n.1031-13T>G) c.902-13T>G (n.902-13T>G) c.461-13T>G (n.461-13T>G) c.590-13T>G (n.590-13T>G) | gnomAD v4 |
9 | g.27183446T= | CA1842031080 | TEK | c.1031-13T= (n.1031-13T=) c.902-13T= (n.902-13T=) c.461-13T= (n.461-13T=) c.590-13T= (n.590-13T=) | |
9 | g.27183447T>A | CA2689641759 | TEK | c.1031-12T>A (n.1031-12T>A) c.902-12T>A (n.902-12T>A) c.461-12T>A (n.461-12T>A) c.590-12T>A (n.590-12T>A) | gnomAD v4 |
9 | g.27183448T>G | CA5016106 | TEK | c.1031-11T>G (n.1031-11T>G) c.902-11T>G (n.902-11T>G) c.461-11T>G (n.461-11T>G) c.590-11T>G (n.590-11T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27183448T= | CA1842031081 | TEK | c.1031-11T= (n.1031-11T=) c.902-11T= (n.902-11T=) c.461-11T= (n.461-11T=) c.590-11T= (n.590-11T=) | |
9 | g.27183449C= | CA1842031082 | TEK | c.1031-10C= (n.1031-10C=) c.902-10C= (n.902-10C=) c.461-10C= (n.461-10C=) c.590-10C= (n.590-10C=) | |
9 | g.27183449C>T | CA5016107 | TEK | c.1031-10C>T (n.1031-10C>T) c.902-10C>T (n.902-10C>T) c.461-10C>T (n.461-10C>T) c.590-10C>T (n.590-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27183450T>A | CA5016109 | TEK | c.1031-9T>A (n.1031-9T>A) c.902-9T>A (n.902-9T>A) c.461-9T>A (n.461-9T>A) c.590-9T>A (n.590-9T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27183450T>C | CA5016108 | TEK | c.1031-9T>C (n.1031-9T>C) c.902-9T>C (n.902-9T>C) c.461-9T>C (n.461-9T>C) c.590-9T>C (n.590-9T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27183450T= | CA1842031083 | TEK | c.1031-9T= (n.1031-9T=) c.902-9T= (n.902-9T=) c.461-9T= (n.461-9T=) c.590-9T= (n.590-9T=) | |
9 | g.27183453C>A | CA2689641760 | TEK | c.1031-6C>A (n.1031-6C>A) c.902-6C>A (n.902-6C>A) c.461-6C>A (n.461-6C>A) c.590-6C>A (n.590-6C>A) | gnomAD v4 |
9 | g.27183453C= | CA1842031084 | TEK | c.1031-6C= (n.1031-6C=) c.902-6C= (n.902-6C=) c.461-6C= (n.461-6C=) c.590-6C= (n.590-6C=) | |
9 | g.27183453C>T | CA587124573 | TEK | c.1031-6C>T (n.1031-6C>T) c.902-6C>T (n.902-6C>T) c.461-6C>T (n.461-6C>T) c.590-6C>T (n.590-6C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27183454T>G | CA5016110 | TEK | c.1031-5T>G (n.1031-5T>G) c.902-5T>G (n.902-5T>G) c.461-5T>G (n.461-5T>G) c.590-5T>G (n.590-5T>G) | dbSNP ExAC gnomAD v2 |
9 | g.27183454T= | CA1842031085 | TEK | c.1031-5T= (n.1031-5T=) c.902-5T= (n.902-5T=) c.461-5T= (n.461-5T=) c.590-5T= (n.590-5T=) | |
9 | g.27183455T>G | CA5016111 | TEK | c.1031-4T>G (n.1031-4T>G) c.902-4T>G (n.902-4T>G) c.461-4T>G (n.461-4T>G) c.590-4T>G (n.590-4T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27183455T= | CA1842031086 | TEK | c.1031-4T= (n.1031-4T=) c.902-4T= (n.902-4T=) c.461-4T= (n.461-4T=) c.590-4T= (n.590-4T=) | |
9 | g.27183456C= | CA1842031087 | TEK | c.1031-3C= (n.1031-3C=) c.902-3C= (n.902-3C=) c.461-3C= (n.461-3C=) c.590-3C= (n.590-3C=) | |
9 | g.27183456C>T | CA587124574 | TEK | c.1031-3C>T (n.1031-3C>T) c.902-3C>T (n.902-3C>T) c.461-3C>T (n.461-3C>T) c.590-3C>T (n.590-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.27183457A>C | CA373129722 | TEK | c.1031-2A>C (n.1031-2A>C) c.902-2A>C (n.902-2A>C) c.461-2A>C (n.461-2A>C) c.590-2A>C (n.590-2A>C) | |
9 | g.27183457A>G | CA373129724 | TEK | c.1031-2A>G (n.1031-2A>G) c.902-2A>G (n.902-2A>G) c.461-2A>G (n.461-2A>G) c.590-2A>G (n.590-2A>G) | |
9 | g.27183457A>T | CA373129723 | TEK | c.1031-2A>T (n.1031-2A>T) c.902-2A>T (n.902-2A>T) c.461-2A>T (n.461-2A>T) c.590-2A>T (n.590-2A>T) | |
9 | g.27183458G>A | CA373129725 | TEK | c.1031-1G>A (n.1031-1G>A) c.902-1G>A (n.902-1G>A) c.461-1G>A (n.461-1G>A) c.590-1G>A (n.590-1G>A) | |
9 | g.27183458G>C | CA373129726 | TEK | c.1031-1G>C (n.1031-1G>C) c.902-1G>C (n.902-1G>C) c.461-1G>C (n.461-1G>C) c.590-1G>C (n.590-1G>C) | |
9 | g.27183458G>T | CA373129727 | TEK | c.1031-1G>T (n.1031-1G>T) c.902-1G>T (n.902-1G>T) c.461-1G>T (n.461-1G>T) c.590-1G>T (n.590-1G>T) | |
9 | g.27183459del | CA2783323183 | TEK | c.1031del c.902del c.461del c.590del | |
9 | g.27183459G>A | CA373129728 | TEK | c.1031G>A (p.Gly344Asp) c.902G>A (p.Gly301Asp) c.461G>A (p.Gly154Asp) c.590G>A (p.Gly197Asp) | gnomAD v4 |
9 | g.27183459G>C | CA373129729 | TEK | c.1031G>C (p.Gly344Ala) c.902G>C (p.Gly301Ala) c.461G>C (p.Gly154Ala) c.590G>C (p.Gly197Ala) | |
9 | g.27183459G>T | CA373129730 | TEK | c.1031G>T (p.Gly344Val) c.902G>T (p.Gly301Val) c.461G>T (p.Gly154Val) c.590G>T (p.Gly197Val) | |
9 | g.27183460C>A | CA464170004 | TEK | c.1032C>A (p.Gly344=) c.903C>A (p.Gly301=) c.462C>A (p.Gly154=) c.591C>A (p.Gly197=) | |
9 | g.27183460C>G | CA464170002 | TEK | c.1032C>G (p.Gly344=) c.903C>G (p.Gly301=) c.462C>G (p.Gly154=) c.591C>G (p.Gly197=) | |
9 | g.27183460C>T | CA464170001 | TEK | c.1032C>T (p.Gly344=) c.903C>T (p.Gly301=) c.462C>T (p.Gly154=) c.591C>T (p.Gly197=) | |
9 | g.27183461A>C | CA373129731 | TEK | c.1033A>C (p.Ile345Leu) c.904A>C (p.Ile302Leu) c.463A>C (p.Ile155Leu) c.592A>C (p.Ile198Leu) | gnomAD v4 |
9 | g.27183461A>G | CA373129732 | TEK | c.1033A>G (p.Ile345Val) c.904A>G (p.Ile302Val) c.463A>G (p.Ile155Val) c.592A>G (p.Ile198Val) | |
9 | g.27183461A>T | CA373129733 | TEK | c.1033A>T (p.Ile345Leu) c.904A>T (p.Ile302Leu) c.463A>T (p.Ile155Leu) c.592A>T (p.Ile198Leu) | |
9 | g.27183462T>A | CA373129734 | TEK | c.1034T>A (p.Ile345Lys) c.905T>A (p.Ile302Lys) c.464T>A (p.Ile155Lys) c.593T>A (p.Ile198Lys) | |
9 | g.27183462T>C | CA373129735 | TEK | c.1034T>C (p.Ile345Thr) c.905T>C (p.Ile302Thr) c.464T>C (p.Ile155Thr) c.593T>C (p.Ile198Thr) | |
9 | g.27183462T>G | CA373129737 | TEK | c.1034T>G (p.Ile345Arg) c.905T>G (p.Ile302Arg) c.464T>G (p.Ile155Arg) c.593T>G (p.Ile198Arg) | |
9 | g.27183463A>C | CA464170006 | TEK | c.1035A>C (p.Ile345=) c.906A>C (p.Ile302=) c.465A>C (p.Ile155=) c.594A>C (p.Ile198=) | |
9 | g.27183463A>G | CA373129739 | TEK | c.1035A>G (p.Ile345Met) c.906A>G (p.Ile302Met) c.465A>G (p.Ile155Met) c.594A>G (p.Ile198Met) | gnomAD v4 |
9 | g.27183463A>T | CA464170007 | TEK | c.1035A>T (p.Ile345=) c.906A>T (p.Ile302=) c.465A>T (p.Ile155=) c.594A>T (p.Ile198=) | |
9 | g.27183464C>A | CA5016112 | TEK | c.1036C>A (p.Gln346Lys) c.907C>A (p.Gln303Lys) c.466C>A (p.Gln156Lys) c.595C>A (p.Gln199Lys) c.1036C>A (p.Pro346Thr) c.907C>A (p.Pro303Thr) c.595C>A (p.Pro199Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27183464C= | CA1842031088 | TEK | c.1036C= (p.Gln346=) c.907C= (p.Gln303=) c.466C= (p.Gln156=) c.595C= (p.Gln199=) c.1036C= (p.Pro346=) c.907C= (p.Pro303=) c.595C= (p.Pro199=) | |
9 | g.27183464C>G | CA373129743 | TEK | c.1036C>G (p.Gln346Glu) c.907C>G (p.Gln303Glu) c.466C>G (p.Gln156Glu) c.595C>G (p.Gln199Glu) c.1036C>G (p.Pro346Ala) c.907C>G (p.Pro303Ala) c.595C>G (p.Pro199Ala) | |
9 | g.27183464C>T | CA373129741 | TEK | c.1036C>T (p.Gln346Ter) c.907C>T (p.Gln303Ter) c.466C>T (p.Gln156Ter) c.595C>T (p.Gln199Ter) c.1036C>T (p.Pro346Ser) c.907C>T (p.Pro303Ser) c.595C>T (p.Pro199Ser) | dbSNP gnomAD v4 |
9 | g.27183465A= | CA1842031089 | TEK | c.1037A= (p.Gln346=) c.908A= (p.Gln303=) c.467A= (p.Gln156=) c.596A= (p.Gln199=) | |
9 | g.27183465A>C | CA5016113 | TEK | c.1037A>C (p.Gln346Pro) c.908A>C (p.Gln303Pro) c.467A>C (p.Gln156Pro) c.596A>C (p.Gln199Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27183465A>G | CA373129747 | TEK | c.1037A>G (p.Gln346Arg) c.908A>G (p.Gln303Arg) c.467A>G (p.Gln156Arg) c.596A>G (p.Gln199Arg) | dbSNP gnomAD v4 |
9 | g.27183465A>T | CA5016114 | TEK | c.1037A>T (p.Gln346Leu) c.908A>T (p.Gln303Leu) c.467A>T (p.Gln156Leu) c.596A>T (p.Gln199Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27183466del | CA2689641761 | TEK | c.1038del (p.Arg347GlyfsTer2) c.909del (p.Arg304GlyfsTer2) c.468del (p.Arg157GlyfsTer2) c.597del (p.Arg200GlyfsTer2) | gnomAD v4 |
9 | g.27183466G>A | CA5016115 | TEK | c.1038G>A (p.Gln346=) c.909G>A (p.Gln303=) c.468G>A (p.Gln156=) c.597G>A (p.Gln199=) c.1038G>A (p.Pro346=) c.909G>A (p.Pro303=) c.597G>A (p.Pro199=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27183466G>C | CA373129751 | TEK | c.1038G>C (p.Gln346His) c.909G>C (p.Gln303His) c.468G>C (p.Gln156His) c.597G>C (p.Gln199His) c.1038G>C (p.Pro346=) c.909G>C (p.Pro303=) c.597G>C (p.Pro199=) | |
9 | g.27183466G= | CA1842031090 | TEK | c.1038G= (p.Gln346=) c.909G= (p.Gln303=) c.468G= (p.Gln156=) c.597G= (p.Gln199=) c.1038G= (p.Pro346=) c.909G= (p.Pro303=) c.597G= (p.Pro199=) | |
9 | g.27183466G>T | CA373129753 | TEK | c.1038G>T (p.Gln346His) c.909G>T (p.Gln303His) c.468G>T (p.Gln156His) c.597G>T (p.Gln199His) c.1038G>T (p.Pro346=) c.909G>T (p.Pro303=) c.597G>T (p.Pro199=) | |
9 | g.27183468_27183470del | CA2689641762 | TEK | c.1040_1042del (p.Arg347del) c.911_913del (p.Arg304del) c.470_472del (p.Arg157del) c.599_601del (p.Arg200del) | gnomAD v4 |
9 | g.27183467A>C | CA464170012 | TEK | c.1039A>C (p.Arg347=) c.910A>C (p.Arg304=) c.469A>C (p.Arg157=) c.598A>C (p.Arg200=) | |
9 | g.27183467A>G | CA373129755 | TEK | c.1039A>G (p.Arg347Gly) c.910A>G (p.Arg304Gly) c.469A>G (p.Arg157Gly) c.598A>G (p.Arg200Gly) | |
9 | g.27183467A>T | CA373129757 | TEK | c.1039A>T (p.Arg347Trp) c.910A>T (p.Arg304Trp) c.469A>T (p.Arg157Trp) c.598A>T (p.Arg200Trp) | |
9 | g.27183468G>A | CA373129759 | TEK | c.1040G>A (p.Arg347Lys) c.911G>A (p.Arg304Lys) c.470G>A (p.Arg157Lys) c.599G>A (p.Arg200Lys) | |
9 | g.27183468G>C | CA373129760 | TEK | c.1040G>C (p.Arg347Thr) c.911G>C (p.Arg304Thr) c.470G>C (p.Arg157Thr) c.599G>C (p.Arg200Thr) | |
9 | g.27183468G= | CA1842031091 | TEK | c.1040G= (p.Arg347=) c.911G= (p.Arg304=) c.470G= (p.Arg157=) c.599G= (p.Arg200=) | |
9 | g.27183468G>T | CA5016116 | TEK | c.1040G>T (p.Arg347Met) c.911G>T (p.Arg304Met) c.470G>T (p.Arg157Met) c.599G>T (p.Arg200Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27183469G>A | CA464170018 | TEK | c.1041G>A (p.Arg347=) c.912G>A (p.Arg304=) c.471G>A (p.Arg157=) c.600G>A (p.Arg200=) | COSMIC COSMIC |
9 | g.27183469G>C | CA373129763 | TEK | c.1041G>C (p.Arg347Ser) c.912G>C (p.Arg304Ser) c.471G>C (p.Arg157Ser) c.600G>C (p.Arg200Ser) | |
9 | g.27183469G>T | CA373129764 | TEK | c.1041G>T (p.Arg347Ser) c.912G>T (p.Arg304Ser) c.471G>T (p.Arg157Ser) c.600G>T (p.Arg200Ser) | |
9 | g.27183470A= | CA1842031092 | TEK | c.1042A= (p.Met348=) c.913A= (p.Met305=) c.472A= (p.Met158=) c.601A= (p.Met201=) | |
9 | g.27183470A>C | CA373129769 | TEK | c.1042A>C (p.Met348Leu) c.913A>C (p.Met305Leu) c.472A>C (p.Met158Leu) c.601A>C (p.Met201Leu) | |
9 | g.27183470A>G | CA373129770 | TEK | c.1042A>G (p.Met348Val) c.913A>G (p.Met305Val) c.472A>G (p.Met158Val) c.601A>G (p.Met201Val) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27183470A>T | CA373129767 | TEK | c.1042A>T (p.Met348Leu) c.913A>T (p.Met305Leu) c.472A>T (p.Met158Leu) c.601A>T (p.Met201Leu) | |
9 | g.27183471T>A | CA373129773 | TEK | c.1043T>A (p.Met348Lys) c.914T>A (p.Met305Lys) c.473T>A (p.Met158Lys) c.602T>A (p.Met201Lys) | |
9 | g.27183471T>C | CA373129775 | TEK | c.1043T>C (p.Met348Thr) c.914T>C (p.Met305Thr) c.473T>C (p.Met158Thr) c.602T>C (p.Met201Thr) | |
9 | g.27183471T>G | CA373129777 | TEK | c.1043T>G (p.Met348Arg) c.914T>G (p.Met305Arg) c.473T>G (p.Met158Arg) c.602T>G (p.Met201Arg) | |
9 | g.27183472G>A | CA373129779 | TEK | c.1044G>A (p.Met348Ile) c.915G>A (p.Met305Ile) c.474G>A (p.Met158Ile) c.603G>A (p.Met201Ile) | dbSNP gnomAD v4 |
9 | g.27183472G>C | CA373129780 | TEK | c.1044G>C (p.Met348Ile) c.915G>C (p.Met305Ile) c.474G>C (p.Met158Ile) c.603G>C (p.Met201Ile) | |
9 | g.27183472G= | CA1842031093 | TEK | c.1044G= (p.Met348=) c.915G= (p.Met305=) c.474G= (p.Met158=) c.603G= (p.Met201=) | |
9 | g.27183472G>T | CA5016117 | TEK | c.1044G>T (p.Met348Ile) c.915G>T (p.Met305Ile) c.474G>T (p.Met158Ile) c.603G>T (p.Met201Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27183473A= | CA1842031094 | TEK | c.1045A= (p.Thr349=) c.916A= (p.Thr306=) c.475A= (p.Thr159=) c.604A= (p.Thr202=) | |
9 | g.27183473A>C | CA373129784 | TEK | c.1045A>C (p.Thr349Pro) c.916A>C (p.Thr306Pro) c.475A>C (p.Thr159Pro) c.604A>C (p.Thr202Pro) | |
9 | g.27183473A>G | CA373129785 | TEK | c.1045A>G (p.Thr349Ala) c.916A>G (p.Thr306Ala) c.475A>G (p.Thr159Ala) c.604A>G (p.Thr202Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27183473A>T | CA373129787 | TEK | c.1045A>T (p.Thr349Ser) c.916A>T (p.Thr306Ser) c.475A>T (p.Thr159Ser) c.604A>T (p.Thr202Ser) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27183474C>A | CA373129789 | TEK | c.1046C>A (p.Thr349Asn) c.917C>A (p.Thr306Asn) c.476C>A (p.Thr159Asn) c.605C>A (p.Thr202Asn) | |
9 | g.27183474C= | CA1842031095 | TEK | c.1046C= (p.Thr349=) c.917C= (p.Thr306=) c.476C= (p.Thr159=) c.605C= (p.Thr202=) | |
9 | g.27183474C>G | CA373129791 | TEK | c.1046C>G (p.Thr349Ser) c.917C>G (p.Thr306Ser) c.476C>G (p.Thr159Ser) c.605C>G (p.Thr202Ser) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.27183474C>T | CA373129793 | TEK | c.1046C>T (p.Thr349Ile) c.917C>T (p.Thr306Ile) c.476C>T (p.Thr159Ile) c.605C>T (p.Thr202Ile) | gnomAD v4 |
9 | g.27183475C>A | CA464170025 | TEK | c.1047C>A (p.Thr349=) c.918C>A (p.Thr306=) c.477C>A (p.Thr159=) c.606C>A (p.Thr202=) | gnomAD v4 |
9 | g.27183475C>G | CA464170028 | TEK | c.1047C>G (p.Thr349=) c.918C>G (p.Thr306=) c.477C>G (p.Thr159=) c.606C>G (p.Thr202=) | |
9 | g.27183475C>T | CA464170029 | TEK | c.1047C>T (p.Thr349=) c.918C>T (p.Thr306=) c.477C>T (p.Thr159=) c.606C>T (p.Thr202=) | |
9 | g.27183476C>A | CA373129799 | TEK | c.1048C>A (p.Pro350Thr) c.919C>A (p.Pro307Thr) c.478C>A (p.Pro160Thr) c.607C>A (p.Pro203Thr) | |
9 | g.27183476C>G | CA373129796 | TEK | c.1048C>G (p.Pro350Ala) c.919C>G (p.Pro307Ala) c.478C>G (p.Pro160Ala) c.607C>G (p.Pro203Ala) | |
9 | g.27183476C>T | CA373129798 | TEK | c.1048C>T (p.Pro350Ser) c.919C>T (p.Pro307Ser) c.478C>T (p.Pro160Ser) c.607C>T (p.Pro203Ser) | |
9 | g.27183477C>A | CA373129801 | TEK | c.1049C>A (p.Pro350Gln) c.920C>A (p.Pro307Gln) c.479C>A (p.Pro160Gln) c.608C>A (p.Pro203Gln) | |
9 | g.27183477C>G | CA373129802 | TEK | c.1049C>G (p.Pro350Arg) c.920C>G (p.Pro307Arg) c.479C>G (p.Pro160Arg) c.608C>G (p.Pro203Arg) | |
9 | g.27183477C>T | CA373129804 | TEK | c.1049C>T (p.Pro350Leu) c.920C>T (p.Pro307Leu) c.479C>T (p.Pro160Leu) c.608C>T (p.Pro203Leu) | |
9 | g.27183478A>C | CA464170031 | TEK | c.1050A>C (p.Pro350=) c.921A>C (p.Pro307=) c.480A>C (p.Pro160=) c.609A>C (p.Pro203=) | |
9 | g.27183478A>G | CA464170032 | TEK | c.1050A>G (p.Pro350=) c.921A>G (p.Pro307=) c.480A>G (p.Pro160=) c.609A>G (p.Pro203=) | gnomAD v4 |
9 | g.27183478A>T | CA464170033 | TEK | c.1050A>T (p.Pro350=) c.921A>T (p.Pro307=) c.480A>T (p.Pro160=) c.609A>T (p.Pro203=) | |
9 | g.27183479A>C | CA373129806 | TEK | c.1051A>C (p.Lys351Gln) c.922A>C (p.Lys308Gln) c.481A>C (p.Lys161Gln) c.610A>C (p.Lys204Gln) | |
9 | g.27183479A>G | CA373129808 | TEK | c.1051A>G (p.Lys351Glu) c.922A>G (p.Lys308Glu) c.481A>G (p.Lys161Glu) c.610A>G (p.Lys204Glu) | |
9 | g.27183479A>T | CA373129810 | TEK | c.1051A>T (p.Lys351Ter) c.922A>T (p.Lys308Ter) c.481A>T (p.Lys161Ter) c.610A>T (p.Lys204Ter) | |
9 | g.27183480A= | CA1842031096 | TEK | c.1052A= (p.Lys351=) c.923A= (p.Lys308=) c.482A= (p.Lys161=) c.611A= (p.Lys204=) | |
9 | g.27183480A>C | CA373129811 | TEK | c.1052A>C (p.Lys351Thr) c.923A>C (p.Lys308Thr) c.482A>C (p.Lys161Thr) c.611A>C (p.Lys204Thr) | gnomAD v4 |
9 | g.27183480A>G | CA191331635 | TEK | c.1052A>G (p.Lys351Arg) c.923A>G (p.Lys308Arg) c.482A>G (p.Lys161Arg) c.611A>G (p.Lys204Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27183480A>T | CA373129813 | TEK | c.1052A>T (p.Lys351Met) c.923A>T (p.Lys308Met) c.482A>T (p.Lys161Met) c.611A>T (p.Lys204Met) | |
9 | g.27183481G>A | CA464170036 | TEK | c.1053G>A (p.Lys351=) c.924G>A (p.Lys308=) c.483G>A (p.Lys161=) c.612G>A (p.Lys204=) | dbSNP gnomAD v4 |
9 | g.27183481G>C | CA5016118 | TEK | c.1053G>C (p.Lys351Asn) c.924G>C (p.Lys308Asn) c.483G>C (p.Lys161Asn) c.612G>C (p.Lys204Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27183481G= | CA1842031097 | TEK | c.1053G= (p.Lys351=) c.924G= (p.Lys308=) c.483G= (p.Lys161=) c.612G= (p.Lys204=) | |
9 | g.27183481G>T | CA373129816 | TEK | c.1053G>T (p.Lys351Asn) c.924G>T (p.Lys308Asn) c.483G>T (p.Lys161Asn) c.612G>T (p.Lys204Asn) | gnomAD v4 |
9 | g.27183482A= | CA1842031098 | TEK | c.1054A= (p.Ile352=) c.925A= (p.Ile309=) c.484A= (p.Ile162=) c.613A= (p.Ile205=) | |
9 | g.27183482A>C | CA373129821 | TEK | c.1054A>C (p.Ile352Leu) c.925A>C (p.Ile309Leu) c.484A>C (p.Ile162Leu) c.613A>C (p.Ile205Leu) | |
9 | g.27183482A>G | CA373129822 | TEK | c.1054A>G (p.Ile352Val) c.925A>G (p.Ile309Val) c.484A>G (p.Ile162Val) c.613A>G (p.Ile205Val) | dbSNP gnomAD v4 |
9 | g.27183482A>T | CA373129819 | TEK | c.1054A>T (p.Ile352Leu) c.925A>T (p.Ile309Leu) c.484A>T (p.Ile162Leu) c.613A>T (p.Ile205Leu) | |
9 | g.27183483T>A | CA373129824 | TEK | c.1055T>A (p.Ile352Lys) c.926T>A (p.Ile309Lys) c.485T>A (p.Ile162Lys) c.614T>A (p.Ile205Lys) | |
9 | g.27183483T>C | CA5016119 | TEK | c.1055T>C (p.Ile352Thr) c.926T>C (p.Ile309Thr) c.485T>C (p.Ile162Thr) c.614T>C (p.Ile205Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27183483T>G | CA373129827 | TEK | c.1055T>G (p.Ile352Arg) c.926T>G (p.Ile309Arg) c.485T>G (p.Ile162Arg) c.614T>G (p.Ile205Arg) | gnomAD v4 |
9 | g.27183483T= | CA1842031099 | TEK | c.1055T= (p.Ile352=) c.926T= (p.Ile309=) c.485T= (p.Ile162=) c.614T= (p.Ile205=) | |
9 | g.27183484A>C | CA464170042 | TEK | c.1056A>C (p.Ile352=) c.927A>C (p.Ile309=) c.486A>C (p.Ile162=) c.615A>C (p.Ile205=) | |
9 | g.27183484A>G | CA373129829 | TEK | c.1056A>G (p.Ile352Met) c.927A>G (p.Ile309Met) c.486A>G (p.Ile162Met) c.615A>G (p.Ile205Met) | |
9 | g.27183484A>T | CA464170043 | TEK | c.1056A>T (p.Ile352=) c.927A>T (p.Ile309=) c.486A>T (p.Ile162=) c.615A>T (p.Ile205=) | |
9 | g.27183485G>A | CA373129831 | TEK | c.1057G>A (p.Val353Met) c.928G>A (p.Val310Met) c.487G>A (p.Val163Met) c.616G>A (p.Val206Met) | gnomAD v4 |
9 | g.27183485G>C | CA373129833 | TEK | c.1057G>C (p.Val353Leu) c.928G>C (p.Val310Leu) c.487G>C (p.Val163Leu) c.616G>C (p.Val206Leu) | |
9 | g.27183485G>T | CA373129835 | TEK | c.1057G>T (p.Val353Leu) c.928G>T (p.Val310Leu) c.487G>T (p.Val163Leu) c.616G>T (p.Val206Leu) | |
9 | g.27183486T>A | CA373129837 | TEK | c.1058T>A (p.Val353Glu) c.929T>A (p.Val310Glu) c.488T>A (p.Val163Glu) c.617T>A (p.Val206Glu) | |
9 | g.27183486T>C | CA373129839 | TEK | c.1058T>C (p.Val353Ala) c.929T>C (p.Val310Ala) c.488T>C (p.Val163Ala) c.617T>C (p.Val206Ala) | |
9 | g.27183486T>G | CA373129841 | TEK | c.1058T>G (p.Val353Gly) c.929T>G (p.Val310Gly) c.488T>G (p.Val163Gly) c.617T>G (p.Val206Gly) | |
9 | g.27183487G>A | CA464170047 | TEK | c.1059G>A (p.Val353=) c.930G>A (p.Val310=) c.489G>A (p.Val163=) c.618G>A (p.Val206=) | dbSNP gnomAD v2 |
9 | g.27183487G>C | CA464170048 | TEK | c.1059G>C (p.Val353=) c.930G>C (p.Val310=) c.489G>C (p.Val163=) c.618G>C (p.Val206=) | |
9 | g.27183487G= | CA1842031100 | TEK | c.1059G= (p.Val353=) c.930G= (p.Val310=) c.489G= (p.Val163=) c.618G= (p.Val206=) | |
9 | g.27183487G>T | CA464170049 | TEK | c.1059G>T (p.Val353=) c.930G>T (p.Val310=) c.489G>T (p.Val163=) c.618G>T (p.Val206=) | |
9 | g.27183488G>A | CA373129843 | TEK | c.1060G>A (p.Asp354Asn) c.931G>A (p.Asp311Asn) c.490G>A (p.Asp164Asn) c.619G>A (p.Asp207Asn) | dbSNP |
9 | g.27183488G>C | CA373129845 | TEK | c.1060G>C (p.Asp354His) c.931G>C (p.Asp311His) c.490G>C (p.Asp164His) c.619G>C (p.Asp207His) | |
9 | g.27183488G= | CA1842031101 | TEK | c.1060G= (p.Asp354=) c.931G= (p.Asp311=) c.490G= (p.Asp164=) c.619G= (p.Asp207=) | |
9 | g.27183488G>T | CA373129847 | TEK | c.1060G>T (p.Asp354Tyr) c.931G>T (p.Asp311Tyr) c.490G>T (p.Asp164Tyr) c.619G>T (p.Asp207Tyr) | dbSNP |
9 | g.27183489A>C | CA373129853 | TEK | c.1061A>C (p.Asp354Ala) c.932A>C (p.Asp311Ala) c.491A>C (p.Asp164Ala) c.620A>C (p.Asp207Ala) | |
9 | g.27183489A>G | CA373129851 | TEK | c.1061A>G (p.Asp354Gly) c.932A>G (p.Asp311Gly) c.491A>G (p.Asp164Gly) c.620A>G (p.Asp207Gly) | |
9 | g.27183489A>T | CA373129849 | TEK | c.1061A>T (p.Asp354Val) c.932A>T (p.Asp311Val) c.491A>T (p.Asp164Val) c.620A>T (p.Asp207Val) | |
9 | g.27183490T>A | CA373129855 | TEK | c.1062T>A (p.Asp354Glu) c.933T>A (p.Asp311Glu) c.492T>A (p.Asp164Glu) c.621T>A (p.Asp207Glu) | |
9 | g.27183490T>C | CA464170051 | TEK | c.1062T>C (p.Asp354=) c.933T>C (p.Asp311=) c.492T>C (p.Asp164=) c.621T>C (p.Asp207=) | |
9 | g.27183490T>G | CA373129857 | TEK | c.1062T>G (p.Asp354Glu) c.933T>G (p.Asp311Glu) c.492T>G (p.Asp164Glu) c.621T>G (p.Asp207Glu) | |
9 | g.27183491T>A | CA373129859 | TEK | c.1063T>A (p.Leu355Met) c.934T>A (p.Leu312Met) c.493T>A (p.Leu165Met) c.622T>A (p.Leu208Met) | |
9 | g.27183491T>C | CA464170052 | TEK | c.1063T>C (p.Leu355=) c.934T>C (p.Leu312=) c.493T>C (p.Leu165=) c.622T>C (p.Leu208=) | |
9 | g.27183491T>G | CA373129861 | TEK | c.1063T>G (p.Leu355Val) c.934T>G (p.Leu312Val) c.493T>G (p.Leu165Val) c.622T>G (p.Leu208Val) | |
9 | g.27183492T>A | CA373129863 | TEK | c.1064T>A (p.Leu355Ter) c.935T>A (p.Leu312Ter) c.494T>A (p.Leu165Ter) c.623T>A (p.Leu208Ter) | |
9 | g.27183492T>C | CA373129865 | TEK | c.1064T>C (p.Leu355Ser) c.935T>C (p.Leu312Ser) c.494T>C (p.Leu165Ser) c.623T>C (p.Leu208Ser) | |
9 | g.27183492T>G | CA373129867 | TEK | c.1064T>G (p.Leu355Trp) c.935T>G (p.Leu312Trp) c.494T>G (p.Leu165Trp) c.623T>G (p.Leu208Trp) | |
9 | g.27183493G>A | CA464170053 | TEK | c.1065G>A (p.Leu355=) c.936G>A (p.Leu312=) c.495G>A (p.Leu165=) c.624G>A (p.Leu208=) | |
9 | g.27183493G>C | CA373129869 | TEK | c.1065G>C (p.Leu355Phe) c.936G>C (p.Leu312Phe) c.495G>C (p.Leu165Phe) c.624G>C (p.Leu208Phe) | |
9 | g.27183493G= | CA1842031102 | TEK | c.1065G= (p.Leu355=) c.936G= (p.Leu312=) c.495G= (p.Leu165=) c.624G= (p.Leu208=) | |
9 | g.27183493G>T | CA373129871 | TEK | c.1065G>T (p.Leu355Phe) c.936G>T (p.Leu312Phe) c.495G>T (p.Leu165Phe) c.624G>T (p.Leu208Phe) | dbSNP gnomAD v4 |
9 | g.27183494C>A | CA191331640 | TEK | c.1066C>A (p.Pro356Thr) c.937C>A (p.Pro313Thr) c.496C>A (p.Pro166Thr) c.625C>A (p.Pro209Thr) | dbSNP |
9 | g.27183494C= | CA1842031103 | TEK | c.1066C= (p.Pro356=) c.937C= (p.Pro313=) c.496C= (p.Pro166=) c.625C= (p.Pro209=) | |
9 | g.27183494C>G | CA373129874 | TEK | c.1066C>G (p.Pro356Ala) c.937C>G (p.Pro313Ala) c.496C>G (p.Pro166Ala) c.625C>G (p.Pro209Ala) | |
9 | g.27183494C>T | CA373129876 | TEK | c.1066C>T (p.Pro356Ser) c.937C>T (p.Pro313Ser) c.496C>T (p.Pro166Ser) c.625C>T (p.Pro209Ser) | |
9 | g.27183495C>A | CA373129878 | TEK | c.1067C>A (p.Pro356Gln) c.938C>A (p.Pro313Gln) c.497C>A (p.Pro166Gln) c.626C>A (p.Pro209Gln) | |
9 | g.27183495C>G | CA373129880 | TEK | c.1067C>G (p.Pro356Arg) c.938C>G (p.Pro313Arg) c.497C>G (p.Pro166Arg) c.626C>G (p.Pro209Arg) | dbSNP |
9 | g.27183495C>T | CA373129882 | TEK | c.1067C>T (p.Pro356Leu) c.938C>T (p.Pro313Leu) c.497C>T (p.Pro166Leu) c.626C>T (p.Pro209Leu) | gnomAD v4 |
9 | g.27183496A>C | CA464170059 | TEK | c.1068A>C (p.Pro356=) c.939A>C (p.Pro313=) c.498A>C (p.Pro166=) c.627A>C (p.Pro209=) | |
9 | g.27183496A>G | CA464170061 | TEK | c.1068A>G (p.Pro356=) c.939A>G (p.Pro313=) c.498A>G (p.Pro166=) c.627A>G (p.Pro209=) | |
9 | g.27183496A>T | CA464170063 | TEK | c.1068A>T (p.Pro356=) c.939A>T (p.Pro313=) c.498A>T (p.Pro166=) c.627A>T (p.Pro209=) | |
9 | g.27183497G>A | CA373129886 | TEK | c.1069G>A (p.Asp357Asn) c.940G>A (p.Asp314Asn) c.499G>A (p.Asp167Asn) c.628G>A (p.Asp210Asn) | |
9 | g.27183497G>C | CA373129888 | TEK | c.1069G>C (p.Asp357His) c.940G>C (p.Asp314His) c.499G>C (p.Asp167His) c.628G>C (p.Asp210His) | dbSNP |
9 | g.27183497G= | CA1842031104 | TEK | c.1069G= (p.Asp357=) c.940G= (p.Asp314=) c.499G= (p.Asp167=) c.628G= (p.Asp210=) | |
9 | g.27183497G>T | CA373129884 | TEK | c.1069G>T (p.Asp357Tyr) c.940G>T (p.Asp314Tyr) c.499G>T (p.Asp167Tyr) c.628G>T (p.Asp210Tyr) | |
9 | g.27183498A= | CA1842031105 | TEK | c.1070A= (p.Asp357=) c.941A= (p.Asp314=) c.500A= (p.Asp167=) c.629A= (p.Asp210=) | |
9 | g.27183498A>C | CA373129892 | TEK | c.1070A>C (p.Asp357Ala) c.941A>C (p.Asp314Ala) c.500A>C (p.Asp167Ala) c.629A>C (p.Asp210Ala) | |
9 | g.27183498A>G | CA373129894 | TEK | c.1070A>G (p.Asp357Gly) c.941A>G (p.Asp314Gly) c.500A>G (p.Asp167Gly) c.629A>G (p.Asp210Gly) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27183498A>T | CA373129897 | TEK | c.1070A>T (p.Asp357Val) c.941A>T (p.Asp314Val) c.500A>T (p.Asp167Val) c.629A>T (p.Asp210Val) |