UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.27212684G>A | CA5016571 | TEK | c.2687-23G>A (n.2687-23G>A) c.2558-23G>A (n.2558-23G>A) c.2243-23G>A (n.2243-23G>A) c.*1188-23G>A (n.*1188-23G>A) c.2684-23G>A (n.2684-23G>A) c.2555-23G>A (n.2555-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.27212684G>C | CA2689643888 | TEK | c.2687-23G>C (n.2687-23G>C) c.2558-23G>C (n.2558-23G>C) c.2243-23G>C (n.2243-23G>C) c.*1188-23G>C (n.*1188-23G>C) c.2684-23G>C (n.2684-23G>C) c.2555-23G>C (n.2555-23G>C) | gnomAD v4 |
| 9 | g.27212684G= | CA1842008638 | TEK | c.2687-23G= (n.2687-23G=) c.2558-23G= (n.2558-23G=) c.2243-23G= (n.2243-23G=) c.*1188-23G= (n.*1188-23G=) c.2684-23G= (n.2684-23G=) c.2555-23G= (n.2555-23G=) | |
| 9 | g.27212684G>T | CA5016570 | TEK | c.2687-23G>T (n.2687-23G>T) c.2558-23G>T (n.2558-23G>T) c.2243-23G>T (n.2243-23G>T) c.*1188-23G>T (n.*1188-23G>T) c.2684-23G>T (n.2684-23G>T) c.2555-23G>T (n.2555-23G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.27212684_27212687dup | CA2689643890 | TEK | c.2687-23_2687-20dup (n.2687-23_2687-20dup) c.2558-23_2558-20dup (n.2558-23_2558-20dup) c.2243-23_2243-20dup (n.2243-23_2243-20dup) c.*1188-23_*1188-20dup (n.*1188-23_*1188-20dup) c.2684-23_2684-20dup (n.2684-23_2684-20dup) c.2555-23_2555-20dup (n.2555-23_2555-20dup) | gnomAD v4 |
| 9 | g.27212685A= | CA1842008640 | TEK | c.2687-22A= (n.2687-22A=) c.2558-22A= (n.2558-22A=) c.2243-22A= (n.2243-22A=) c.*1188-22A= (n.*1188-22A=) c.2684-22A= (n.2684-22A=) c.2555-22A= (n.2555-22A=) | |
| 9 | g.27212685A>C | CA1842008639 | TEK | c.2687-22A>C (n.2687-22A>C) c.2558-22A>C (n.2558-22A>C) c.2243-22A>C (n.2243-22A>C) c.*1188-22A>C (n.*1188-22A>C) c.2684-22A>C (n.2684-22A>C) c.2555-22A>C (n.2555-22A>C) | dbSNP |
| 9 | g.27212686T>G | CA587127969 | TEK | c.2687-21T>G (n.2687-21T>G) c.2558-21T>G (n.2558-21T>G) c.2243-21T>G (n.2243-21T>G) c.*1188-21T>G (n.*1188-21T>G) c.2684-21T>G (n.2684-21T>G) c.2555-21T>G (n.2555-21T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.27212686T= | CA1842008641 | TEK | c.2687-21T= (n.2687-21T=) c.2558-21T= (n.2558-21T=) c.2243-21T= (n.2243-21T=) c.*1188-21T= (n.*1188-21T=) c.2684-21T= (n.2684-21T=) c.2555-21T= (n.2555-21T=) | |
| 9 | g.27212687G>A | CA2689643891 | TEK | c.2687-20G>A (n.2687-20G>A) c.2558-20G>A (n.2558-20G>A) c.2243-20G>A (n.2243-20G>A) c.*1188-20G>A (n.*1188-20G>A) c.2684-20G>A (n.2684-20G>A) c.2555-20G>A (n.2555-20G>A) | gnomAD v4 |
| 9 | g.27212688C>T | CA2783314761 | TEK | c.2687-19C>T (n.2687-19C>T) c.2558-19C>T (n.2558-19C>T) c.2243-19C>T (n.2243-19C>T) c.*1188-19C>T (n.*1188-19C>T) c.2684-19C>T (n.2684-19C>T) c.2555-19C>T (n.2555-19C>T) | |
| 9 | g.27212690C= | CA1842008642 | TEK | c.2687-17C= (n.2687-17C=) c.2558-17C= (n.2558-17C=) c.2243-17C= (n.2243-17C=) c.*1188-17C= (n.*1188-17C=) c.2684-17C= (n.2684-17C=) c.2555-17C= (n.2555-17C=) | |
| 9 | g.27212690C>G | CA862764240 | TEK | c.2687-17C>G (n.2687-17C>G) c.2558-17C>G (n.2558-17C>G) c.2243-17C>G (n.2243-17C>G) c.*1188-17C>G (n.*1188-17C>G) c.2684-17C>G (n.2684-17C>G) c.2555-17C>G (n.2555-17C>G) | dbSNP |
| 9 | g.27212690C>T | CA5016572 | TEK | c.2687-17C>T (n.2687-17C>T) c.2558-17C>T (n.2558-17C>T) c.2243-17C>T (n.2243-17C>T) c.*1188-17C>T (n.*1188-17C>T) c.2684-17C>T (n.2684-17C>T) c.2555-17C>T (n.2555-17C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.27212691T>C | CA2689643892 | TEK | c.2687-16T>C (n.2687-16T>C) c.2558-16T>C (n.2558-16T>C) c.2243-16T>C (n.2243-16T>C) c.*1188-16T>C (n.*1188-16T>C) c.2684-16T>C (n.2684-16T>C) c.2555-16T>C (n.2555-16T>C) | gnomAD v4 |
| 9 | g.27212692C= | CA1842008643 | TEK | c.2687-15C= (n.2687-15C=) c.2558-15C= (n.2558-15C=) c.2243-15C= (n.2243-15C=) c.*1188-15C= (n.*1188-15C=) c.2684-15C= (n.2684-15C=) c.2555-15C= (n.2555-15C=) | |
| 9 | g.27212692C>T | CA587127971 | TEK | c.2687-15C>T (n.2687-15C>T) c.2558-15C>T (n.2558-15C>T) c.2243-15C>T (n.2243-15C>T) c.*1188-15C>T (n.*1188-15C>T) c.2684-15C>T (n.2684-15C>T) c.2555-15C>T (n.2555-15C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.27212697_27212700del | CA2689643893 | TEK | c.2687-10_2687-7del (n.2687-10_2687-7del) c.2558-10_2558-7del (n.2558-10_2558-7del) c.2243-10_2243-7del (n.2243-10_2243-7del) c.*1188-10_*1188-7del (n.*1188-10_*1188-7del) c.2684-10_2684-7del (n.2684-10_2684-7del) c.2555-10_2555-7del (n.2555-10_2555-7del) | gnomAD v4 |
| 9 | g.27212693T>C | CA2689643895 | TEK | c.2687-14T>C (n.2687-14T>C) c.2558-14T>C (n.2558-14T>C) c.2243-14T>C (n.2243-14T>C) c.*1188-14T>C (n.*1188-14T>C) c.2684-14T>C (n.2684-14T>C) c.2555-14T>C (n.2555-14T>C) | gnomAD v4 |
| 9 | g.27212695C>A | CA1842008644 | TEK | c.2687-12C>A (n.2687-12C>A) c.2558-12C>A (n.2558-12C>A) c.2243-12C>A (n.2243-12C>A) c.*1188-12C>A (n.*1188-12C>A) c.2684-12C>A (n.2684-12C>A) c.2555-12C>A (n.2555-12C>A) | dbSNP gnomAD v4 |
| 9 | g.27212695C= | CA1842008645 | TEK | c.2687-12C= (n.2687-12C=) c.2558-12C= (n.2558-12C=) c.2243-12C= (n.2243-12C=) c.*1188-12C= (n.*1188-12C=) c.2684-12C= (n.2684-12C=) c.2555-12C= (n.2555-12C=) | |
| 9 | g.27212696C>T | CA2689643898 | TEK | c.2687-11C>T (n.2687-11C>T) c.2558-11C>T (n.2558-11C>T) c.2243-11C>T (n.2243-11C>T) c.*1188-11C>T (n.*1188-11C>T) c.2684-11C>T (n.2684-11C>T) c.2555-11C>T (n.2555-11C>T) | gnomAD v4 |
| 9 | g.27212697T>C | CA2689643899 | TEK | c.2687-10T>C (n.2687-10T>C) c.2558-10T>C (n.2558-10T>C) c.2243-10T>C (n.2243-10T>C) c.*1188-10T>C (n.*1188-10T>C) c.2684-10T>C (n.2684-10T>C) c.2555-10T>C (n.2555-10T>C) | gnomAD v4 |
| 9 | g.27212699C>T | CA2783314762 | TEK | c.2687-8C>T (n.2687-8C>T) c.2558-8C>T (n.2558-8C>T) c.2243-8C>T (n.2243-8C>T) c.*1188-8C>T (n.*1188-8C>T) c.2684-8C>T (n.2684-8C>T) c.2555-8C>T (n.2555-8C>T) | |
| 9 | g.27212700C>T | CA2689643900 | TEK | c.2687-7C>T (n.2687-7C>T) c.2558-7C>T (n.2558-7C>T) c.2243-7C>T (n.2243-7C>T) c.*1188-7C>T (n.*1188-7C>T) c.2684-7C>T (n.2684-7C>T) c.2555-7C>T (n.2555-7C>T) | gnomAD v4 |
| 9 | g.27212701C= | CA1842008646 | TEK | c.2687-6C= (n.2687-6C=) c.2558-6C= (n.2558-6C=) c.2243-6C= (n.2243-6C=) c.*1188-6C= (n.*1188-6C=) c.2684-6C= (n.2684-6C=) c.2555-6C= (n.2555-6C=) | |
| 9 | g.27212701C>T | CA862764242 | TEK | c.2687-6C>T (n.2687-6C>T) c.2558-6C>T (n.2558-6C>T) c.2243-6C>T (n.2243-6C>T) c.*1188-6C>T (n.*1188-6C>T) c.2684-6C>T (n.2684-6C>T) c.2555-6C>T (n.2555-6C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.27212702T>C | CA2689643901 | TEK | c.2687-5T>C (n.2687-5T>C) c.2558-5T>C (n.2558-5T>C) c.2243-5T>C (n.2243-5T>C) c.*1188-5T>C (n.*1188-5T>C) c.2684-5T>C (n.2684-5T>C) c.2555-5T>C (n.2555-5T>C) | gnomAD v4 |
| 9 | g.27212703C>A | CA2719041745 | TEK | c.2687-4C>A (n.2687-4C>A) c.2558-4C>A (n.2558-4C>A) c.2243-4C>A (n.2243-4C>A) c.*1188-4C>A (n.*1188-4C>A) c.2684-4C>A (n.2684-4C>A) c.2555-4C>A (n.2555-4C>A) | dbSNP |
| 9 | g.27212703C>G | CA2689643902 | TEK | c.2687-4C>G (n.2687-4C>G) c.2558-4C>G (n.2558-4C>G) c.2243-4C>G (n.2243-4C>G) c.*1188-4C>G (n.*1188-4C>G) c.2684-4C>G (n.2684-4C>G) c.2555-4C>G (n.2555-4C>G) | gnomAD v4 |
| 9 | g.27212704C>A | CA1122573105 | TEK | c.2687-3C>A (n.2687-3C>A) c.2558-3C>A (n.2558-3C>A) c.2243-3C>A (n.2243-3C>A) c.*1188-3C>A (n.*1188-3C>A) c.2684-3C>A (n.2684-3C>A) c.2555-3C>A (n.2555-3C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.27212704C= | CA1842008647 | TEK | c.2687-3C= (n.2687-3C=) c.2558-3C= (n.2558-3C=) c.2243-3C= (n.2243-3C=) c.*1188-3C= (n.*1188-3C=) c.2684-3C= (n.2684-3C=) c.2555-3C= (n.2555-3C=) | |
| 9 | g.27212704C>T | CA1842008648 | TEK | c.2687-3C>T (n.2687-3C>T) c.2558-3C>T (n.2558-3C>T) c.2243-3C>T (n.2243-3C>T) c.*1188-3C>T (n.*1188-3C>T) c.2684-3C>T (n.2684-3C>T) c.2555-3C>T (n.2555-3C>T) | dbSNP gnomAD v4 |
| 9 | g.27212705A>C | CA373122660 | TEK | c.2687-2A>C (n.2687-2A>C) c.2558-2A>C (n.2558-2A>C) c.2243-2A>C (n.2243-2A>C) c.*1188-2A>C (n.*1188-2A>C) c.2684-2A>C (n.2684-2A>C) c.2555-2A>C (n.2555-2A>C) | |
| 9 | g.27212705A>G | CA373122661 | TEK | c.2687-2A>G (n.2687-2A>G) c.2558-2A>G (n.2558-2A>G) c.2243-2A>G (n.2243-2A>G) c.*1188-2A>G (n.*1188-2A>G) c.2684-2A>G (n.2684-2A>G) c.2555-2A>G (n.2555-2A>G) | |
| 9 | g.27212705A>T | CA373122662 | TEK | c.2687-2A>T (n.2687-2A>T) c.2558-2A>T (n.2558-2A>T) c.2243-2A>T (n.2243-2A>T) c.*1188-2A>T (n.*1188-2A>T) c.2684-2A>T (n.2684-2A>T) c.2555-2A>T (n.2555-2A>T) | |
| 9 | g.27212706G>A | CA373122663 | TEK | c.2687-1G>A (n.2687-1G>A) c.2558-1G>A (n.2558-1G>A) c.2243-1G>A (n.2243-1G>A) c.*1188-1G>A (n.*1188-1G>A) c.2684-1G>A (n.2684-1G>A) c.2555-1G>A (n.2555-1G>A) | |
| 9 | g.27212706G>C | CA373122664 | TEK | c.2687-1G>C (n.2687-1G>C) c.2558-1G>C (n.2558-1G>C) c.2243-1G>C (n.2243-1G>C) c.*1188-1G>C (n.*1188-1G>C) c.2684-1G>C (n.2684-1G>C) c.2555-1G>C (n.2555-1G>C) | |
| 9 | g.27212706G>T | CA373122665 | TEK | c.2687-1G>T (n.2687-1G>T) c.2558-1G>T (n.2558-1G>T) c.2243-1G>T (n.2243-1G>T) c.*1188-1G>T (n.*1188-1G>T) c.2684-1G>T (n.2684-1G>T) c.2555-1G>T (n.2555-1G>T) | |
| 9 | g.27212707G>A | CA373122666 | TEK | c.2687G>A (p.Gly896Asp) c.2558G>A (p.Gly853Asp) c.2243G>A (p.Gly748Asp) c.*1188G>A (n.*1188G>A) c.2684G>A (p.Gly895Asp) c.2555G>A (p.Gly852Asp) | |
| 9 | g.27212707G>C | CA373122667 | TEK | c.2687G>C (p.Gly896Ala) c.2558G>C (p.Gly853Ala) c.2243G>C (p.Gly748Ala) c.*1188G>C (n.*1188G>C) c.2684G>C (p.Gly895Ala) c.2555G>C (p.Gly852Ala) | |
| 9 | g.27212707G>T | CA373122668 | TEK | c.2687G>T (p.Gly896Val) c.2558G>T (p.Gly853Val) c.2243G>T (p.Gly748Val) c.*1188G>T (n.*1188G>T) c.2684G>T (p.Gly895Val) c.2555G>T (p.Gly852Val) | |
| 9 | g.27212708C>A | CA464169910 | TEK | c.2688C>A (p.Gly896=) c.2559C>A (p.Gly853=) c.2244C>A (p.Gly748=) c.*1189C>A (n.*1189C>A) c.2685C>A (p.Gly895=) c.2556C>A (p.Gly852=) | gnomAD v4 |
| 9 | g.27212708C= | CA1842008649 | TEK | c.2688C= (p.Gly896=) c.2559C= (p.Gly853=) c.2244C= (p.Gly748=) c.*1189C= (n.*1189C=) c.2685C= (p.Gly895=) c.2556C= (p.Gly852=) | |
| 9 | g.27212708C>G | CA191308649 | TEK | c.2688C>G (p.Gly896=) c.2559C>G (p.Gly853=) c.2244C>G (p.Gly748=) c.*1189C>G (n.*1189C>G) c.2685C>G (p.Gly895=) c.2556C>G (p.Gly852=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.27212708C>T | CA464169911 | TEK | c.2688C>T (p.Gly896=) c.2559C>T (p.Gly853=) c.2244C>T (p.Gly748=) c.*1189C>T (n.*1189C>T) c.2685C>T (p.Gly895=) c.2556C>T (p.Gly852=) | gnomAD v4 |
| 9 | g.27212709T>A | CA373122669 | TEK | c.2689T>A (p.Tyr897Asn) c.2560T>A (p.Tyr854Asn) c.2245T>A (p.Tyr749Asn) c.*1190T>A (n.*1190T>A) c.2686T>A (p.Tyr896Asn) c.2557T>A (p.Tyr853Asn) | ClinVar dbSNP |
| 9 | g.27212709T>C | CA373122671 | TEK | c.2689T>C (p.Tyr897His) c.2560T>C (p.Tyr854His) c.2245T>C (p.Tyr749His) c.*1190T>C (n.*1190T>C) c.2686T>C (p.Tyr896His) c.2557T>C (p.Tyr853His) | ClinVar dbSNP |
| 9 | g.27212709T>G | CA373122670 | TEK | c.2689T>G (p.Tyr897Asp) c.2560T>G (p.Tyr854Asp) c.2245T>G (p.Tyr749Asp) c.*1190T>G (n.*1190T>G) c.2686T>G (p.Tyr896Asp) c.2557T>G (p.Tyr853Asp) | |
| 9 | g.27212710A= | CA1842008650 | TEK | c.2690A= (p.Tyr897=) c.2561A= (p.Tyr854=) c.2246A= (p.Tyr749=) c.*1191A= (n.*1191A=) c.2687A= (p.Tyr896=) c.2558A= (p.Tyr853=) | |
| 9 | g.27212710A>C | CA340902 | TEK | c.2690A>C (p.Tyr897Ser) c.2561A>C (p.Tyr854Ser) c.2246A>C (p.Tyr749Ser) c.*1191A>C (n.*1191A>C) c.2687A>C (p.Tyr896Ser) c.2558A>C (p.Tyr853Ser) | ClinVar dbSNP |
| 9 | g.27212710A>G | CA259741 | TEK | c.2690A>G (p.Tyr897Cys) c.2561A>G (p.Tyr854Cys) c.2246A>G (p.Tyr749Cys) c.*1191A>G (n.*1191A>G) c.2687A>G (p.Tyr896Cys) c.2558A>G (p.Tyr853Cys) | ClinVar dbSNP |
| 9 | g.27212710A>T | CA373122672 | TEK | c.2690A>T (p.Tyr897Phe) c.2561A>T (p.Tyr854Phe) c.2246A>T (p.Tyr749Phe) c.*1191A>T (n.*1191A>T) c.2687A>T (p.Tyr896Phe) c.2558A>T (p.Tyr853Phe) | |
| 9 | g.27212711C>A | CA373122673 | TEK | c.2691C>A (p.Tyr897Ter) c.2562C>A (p.Tyr854Ter) c.2247C>A (p.Tyr749Ter) c.*1192C>A (n.*1192C>A) c.2688C>A (p.Tyr896Ter) c.2559C>A (p.Tyr853Ter) | |
| 9 | g.27212711C>G | CA373122674 | TEK | c.2691C>G (p.Tyr897Ter) c.2562C>G (p.Tyr854Ter) c.2247C>G (p.Tyr749Ter) c.*1192C>G (n.*1192C>G) c.2688C>G (p.Tyr896Ter) c.2559C>G (p.Tyr853Ter) | gnomAD v4 |
| 9 | g.27212711C>T | CA464169912 | TEK | c.2691C>T (p.Tyr897=) c.2562C>T (p.Tyr854=) c.2247C>T (p.Tyr749=) c.*1192C>T (n.*1192C>T) c.2688C>T (p.Tyr896=) c.2559C>T (p.Tyr853=) | |
| 9 | g.27212711_27212714dup | CA2689643908 | TEK | c.2691_2694dup (p.Tyr899LeufsTer6) c.2562_2565dup (p.Tyr856LeufsTer6) c.2247_2250dup (p.Tyr751LeufsTer6) c.*1192_*1195dup (n.*1192_*1195dup) c.2688_2691dup (p.Tyr898LeufsTer6) c.2559_2562dup (p.Tyr855LeufsTer6) | gnomAD v4 |
| 9 | g.27212712T>A | CA373122675 | TEK | c.2692T>A (p.Leu898Met) c.2563T>A (p.Leu855Met) c.2248T>A (p.Leu750Met) c.*1193T>A (n.*1193T>A) c.2689T>A (p.Leu897Met) c.2560T>A (p.Leu854Met) | |
| 9 | g.27212712T>C | CA464169913 | TEK | c.2692T>C (p.Leu898=) c.2563T>C (p.Leu855=) c.2248T>C (p.Leu750=) c.*1193T>C (n.*1193T>C) c.2689T>C (p.Leu897=) c.2560T>C (p.Leu854=) | |
| 9 | g.27212712T>G | CA373122676 | TEK | c.2692T>G (p.Leu898Val) c.2563T>G (p.Leu855Val) c.2248T>G (p.Leu750Val) c.*1193T>G (n.*1193T>G) c.2689T>G (p.Leu897Val) c.2560T>G (p.Leu854Val) | gnomAD v4 |
| 9 | g.27212713T>A | CA373122677 | TEK | c.2693T>A (p.Leu898Ter) c.2564T>A (p.Leu855Ter) c.2249T>A (p.Leu750Ter) c.*1194T>A (n.*1194T>A) c.2690T>A (p.Leu897Ter) c.2561T>A (p.Leu854Ter) | |
| 9 | g.27212713T>C | CA373122678 | TEK | c.2693T>C (p.Leu898Ser) c.2564T>C (p.Leu855Ser) c.2249T>C (p.Leu750Ser) c.*1194T>C (n.*1194T>C) c.2690T>C (p.Leu897Ser) c.2561T>C (p.Leu854Ser) | gnomAD v4 |
| 9 | g.27212713T>G | CA373122679 | TEK | c.2693T>G (p.Leu898Trp) c.2564T>G (p.Leu855Trp) c.2249T>G (p.Leu750Trp) c.*1194T>G (n.*1194T>G) c.2690T>G (p.Leu897Trp) c.2561T>G (p.Leu854Trp) | |
| 9 | g.27212714G>A | CA464169914 | TEK | c.2694G>A (p.Leu898=) c.2565G>A (p.Leu855=) c.2250G>A (p.Leu750=) c.*1195G>A (n.*1195G>A) c.2691G>A (p.Leu897=) c.2562G>A (p.Leu854=) | |
| 9 | g.27212714G>C | CA373122680 | TEK | c.2694G>C (p.Leu898Phe) c.2565G>C (p.Leu855Phe) c.2250G>C (p.Leu750Phe) c.*1195G>C (n.*1195G>C) c.2691G>C (p.Leu897Phe) c.2562G>C (p.Leu854Phe) | |
| 9 | g.27212714G>T | CA373122681 | TEK | c.2694G>T (p.Leu898Phe) c.2565G>T (p.Leu855Phe) c.2250G>T (p.Leu750Phe) c.*1195G>T (n.*1195G>T) c.2691G>T (p.Leu897Phe) c.2562G>T (p.Leu854Phe) | COSMIC |
| 9 | g.27212715T>A | CA373122682 | TEK | c.2695T>A (p.Tyr899Asn) c.2566T>A (p.Tyr856Asn) c.2251T>A (p.Tyr751Asn) c.*1196T>A (n.*1196T>A) c.2692T>A (p.Tyr898Asn) c.2563T>A (p.Tyr855Asn) | |
| 9 | g.27212715T>C | CA373122683 | TEK | c.2695T>C (p.Tyr899His) c.2566T>C (p.Tyr856His) c.2251T>C (p.Tyr751His) c.*1196T>C (n.*1196T>C) c.2692T>C (p.Tyr898His) c.2563T>C (p.Tyr855His) | |
| 9 | g.27212715T>G | CA373122684 | TEK | c.2695T>G (p.Tyr899Asp) c.2566T>G (p.Tyr856Asp) c.2251T>G (p.Tyr751Asp) c.*1196T>G (n.*1196T>G) c.2692T>G (p.Tyr898Asp) c.2563T>G (p.Tyr855Asp) | |
| 9 | g.27212716A= | CA1842008651 | TEK | c.2696A= (p.Tyr899=) c.2567A= (p.Tyr856=) c.2252A= (p.Tyr751=) c.*1197A= (n.*1197A=) c.2693A= (p.Tyr898=) c.2564A= (p.Tyr855=) | |
| 9 | g.27212716A>C | CA373122687 | TEK | c.2696A>C (p.Tyr899Ser) c.2567A>C (p.Tyr856Ser) c.2252A>C (p.Tyr751Ser) c.*1197A>C (n.*1197A>C) c.2693A>C (p.Tyr898Ser) c.2564A>C (p.Tyr855Ser) | dbSNP |
| 9 | g.27212716A>G | CA373122685 | TEK | c.2696A>G (p.Tyr899Cys) c.2567A>G (p.Tyr856Cys) c.2252A>G (p.Tyr751Cys) c.*1197A>G (n.*1197A>G) c.2693A>G (p.Tyr898Cys) c.2564A>G (p.Tyr855Cys) | |
| 9 | g.27212716A>T | CA373122686 | TEK | c.2696A>T (p.Tyr899Phe) c.2567A>T (p.Tyr856Phe) c.2252A>T (p.Tyr751Phe) c.*1197A>T (n.*1197A>T) c.2693A>T (p.Tyr898Phe) c.2564A>T (p.Tyr855Phe) | |
| 9 | g.27212717C>A | CA373122688 | TEK | c.2697C>A (p.Tyr899Ter) c.2568C>A (p.Tyr856Ter) c.2253C>A (p.Tyr751Ter) c.*1198C>A (n.*1198C>A) c.2694C>A (p.Tyr898Ter) c.2565C>A (p.Tyr855Ter) | |
| 9 | g.27212717C>G | CA373122689 | TEK | c.2697C>G (p.Tyr899Ter) c.2568C>G (p.Tyr856Ter) c.2253C>G (p.Tyr751Ter) c.*1198C>G (n.*1198C>G) c.2694C>G (p.Tyr898Ter) c.2565C>G (p.Tyr855Ter) | |
| 9 | g.27212717C>T | CA464169915 | TEK | c.2697C>T (p.Tyr899=) c.2568C>T (p.Tyr856=) c.2253C>T (p.Tyr751=) c.*1198C>T (n.*1198C>T) c.2694C>T (p.Tyr898=) c.2565C>T (p.Tyr855=) | gnomAD v4 |
| 9 | g.27212718C>A | CA373122690 | TEK | c.2698C>A (p.Leu900Met) c.2569C>A (p.Leu857Met) c.2254C>A (p.Leu752Met) c.*1199C>A (n.*1199C>A) c.2695C>A (p.Leu899Met) c.2566C>A (p.Leu856Met) | |
| 9 | g.27212718C= | CA1842008652 | TEK | c.2698C= (p.Leu900=) c.2569C= (p.Leu857=) c.2254C= (p.Leu752=) c.*1199C= (n.*1199C=) c.2695C= (p.Leu899=) c.2566C= (p.Leu856=) | |
| 9 | g.27212718C>G | CA373122691 | TEK | c.2698C>G (p.Leu900Val) c.2569C>G (p.Leu857Val) c.2254C>G (p.Leu752Val) c.*1199C>G (n.*1199C>G) c.2695C>G (p.Leu899Val) c.2566C>G (p.Leu856Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.27212718C>T | CA464169916 | TEK | c.2698C>T (p.Leu900=) c.2569C>T (p.Leu857=) c.2254C>T (p.Leu752=) c.*1199C>T (n.*1199C>T) c.2695C>T (p.Leu899=) c.2566C>T (p.Leu856=) | dbSNP gnomAD v4 |
| 9 | g.27212719T>A | CA373122692 | TEK | c.2699T>A (p.Leu900Gln) c.2570T>A (p.Leu857Gln) c.2255T>A (p.Leu752Gln) c.*1200T>A (n.*1200T>A) c.2696T>A (p.Leu899Gln) c.2567T>A (p.Leu856Gln) | |
| 9 | g.27212719T>C | CA373122693 | TEK | c.2699T>C (p.Leu900Pro) c.2570T>C (p.Leu857Pro) c.2255T>C (p.Leu752Pro) c.*1200T>C (n.*1200T>C) c.2696T>C (p.Leu899Pro) c.2567T>C (p.Leu856Pro) | |
| 9 | g.27212719T>G | CA373122694 | TEK | c.2699T>G (p.Leu900Arg) c.2570T>G (p.Leu857Arg) c.2255T>G (p.Leu752Arg) c.*1200T>G (n.*1200T>G) c.2696T>G (p.Leu899Arg) c.2567T>G (p.Leu856Arg) | |
| 9 | g.27212720G>A | CA464169917 | TEK | c.2700G>A (p.Leu900=) c.2571G>A (p.Leu857=) c.2256G>A (p.Leu752=) c.*1201G>A (n.*1201G>A) c.2697G>A (p.Leu899=) c.2568G>A (p.Leu856=) | |
| 9 | g.27212720G>C | CA464169918 | TEK | c.2700G>C (p.Leu900=) c.2571G>C (p.Leu857=) c.2256G>C (p.Leu752=) c.*1201G>C (n.*1201G>C) c.2697G>C (p.Leu899=) c.2568G>C (p.Leu856=) | |
| 9 | g.27212720G>T | CA464169919 | TEK | c.2700G>T (p.Leu900=) c.2571G>T (p.Leu857=) c.2256G>T (p.Leu752=) c.*1201G>T (n.*1201G>T) c.2697G>T (p.Leu899=) c.2568G>T (p.Leu856=) | gnomAD v4 |
| 9 | g.27212721G>A | CA373122696 | TEK | c.2701G>A (p.Ala901Thr) c.2572G>A (p.Ala858Thr) c.2257G>A (p.Ala753Thr) c.*1202G>A (n.*1202G>A) c.2698G>A (p.Ala900Thr) c.2569G>A (p.Ala857Thr) | |
| 9 | g.27212721G>C | CA373122697 | TEK | c.2701G>C (p.Ala901Pro) c.2572G>C (p.Ala858Pro) c.2257G>C (p.Ala753Pro) c.*1202G>C (n.*1202G>C) c.2698G>C (p.Ala900Pro) c.2569G>C (p.Ala857Pro) | gnomAD v4 |
| 9 | g.27212721G>T | CA373122698 | TEK | c.2701G>T (p.Ala901Ser) c.2572G>T (p.Ala858Ser) c.2257G>T (p.Ala753Ser) c.*1202G>T (n.*1202G>T) c.2698G>T (p.Ala900Ser) c.2569G>T (p.Ala857Ser) | |
| 9 | g.27212722C>A | CA373122706 | TEK | c.2702C>A (p.Ala901Asp) c.2573C>A (p.Ala858Asp) c.2258C>A (p.Ala753Asp) c.*1203C>A (n.*1203C>A) c.2699C>A (p.Ala900Asp) c.2570C>A (p.Ala857Asp) | |
| 9 | g.27212722C= | CA1842008653 | TEK | c.2702C= (p.Ala901=) c.2573C= (p.Ala858=) c.2258C= (p.Ala753=) c.*1203C= (n.*1203C=) c.2699C= (p.Ala900=) c.2570C= (p.Ala857=) | |
| 9 | g.27212722C>G | CA373122704 | TEK | c.2702C>G (p.Ala901Gly) c.2573C>G (p.Ala858Gly) c.2258C>G (p.Ala753Gly) c.*1203C>G (n.*1203C>G) c.2699C>G (p.Ala900Gly) c.2570C>G (p.Ala857Gly) | |
| 9 | g.27212722C>T | CA373122702 | TEK | c.2702C>T (p.Ala901Val) c.2573C>T (p.Ala858Val) c.2258C>T (p.Ala753Val) c.*1203C>T (n.*1203C>T) c.2699C>T (p.Ala900Val) c.2570C>T (p.Ala857Val) | dbSNP |
| 9 | g.27212723C>A | CA464169920 | TEK | c.2703C>A (p.Ala901=) c.2574C>A (p.Ala858=) c.2259C>A (p.Ala753=) c.*1204C>A (n.*1204C>A) c.2700C>A (p.Ala900=) c.2571C>A (p.Ala857=) | |
| 9 | g.27212723C>G | CA464169921 | TEK | c.2703C>G (p.Ala901=) c.2574C>G (p.Ala858=) c.2259C>G (p.Ala753=) c.*1204C>G (n.*1204C>G) c.2700C>G (p.Ala900=) c.2571C>G (p.Ala857=) | |
| 9 | g.27212723C>T | CA464169922 | TEK | c.2703C>T (p.Ala901=) c.2574C>T (p.Ala858=) c.2259C>T (p.Ala753=) c.*1204C>T (n.*1204C>T) c.2700C>T (p.Ala900=) c.2571C>T (p.Ala857=) | gnomAD v4 |
| 9 | g.27212724A>C | CA373122708 | TEK | c.2704A>C (p.Ile902Leu) c.2575A>C (p.Ile859Leu) c.2260A>C (p.Ile754Leu) c.*1205A>C (n.*1205A>C) c.2701A>C (p.Ile901Leu) c.2572A>C (p.Ile858Leu) | |
| 9 | g.27212724A>G | CA373122709 | TEK | c.2704A>G (p.Ile902Val) c.2575A>G (p.Ile859Val) c.2260A>G (p.Ile754Val) c.*1205A>G (n.*1205A>G) c.2701A>G (p.Ile901Val) c.2572A>G (p.Ile858Val) | |
| 9 | g.27212724A>T | CA373122711 | TEK | c.2704A>T (p.Ile902Phe) c.2575A>T (p.Ile859Phe) c.2260A>T (p.Ile754Phe) c.*1205A>T (n.*1205A>T) c.2701A>T (p.Ile901Phe) c.2572A>T (p.Ile858Phe) | |
| 9 | g.27212725T>A | CA373122715 | TEK | c.2705T>A (p.Ile902Asn) c.2576T>A (p.Ile859Asn) c.2261T>A (p.Ile754Asn) c.*1206T>A (n.*1206T>A) c.2702T>A (p.Ile901Asn) c.2573T>A (p.Ile858Asn) | |
| 9 | g.27212725T>C | CA191308689 | TEK | c.2705T>C (p.Ile902Thr) c.2576T>C (p.Ile859Thr) c.2261T>C (p.Ile754Thr) c.*1206T>C (n.*1206T>C) c.2702T>C (p.Ile901Thr) c.2573T>C (p.Ile858Thr) | dbSNP gnomAD v4 |
| 9 | g.27212725T>G | CA373122725 | TEK | c.2705T>G (p.Ile902Ser) c.2576T>G (p.Ile859Ser) c.2261T>G (p.Ile754Ser) c.*1206T>G (n.*1206T>G) c.2702T>G (p.Ile901Ser) c.2573T>G (p.Ile858Ser) | |
| 9 | g.27212725T= | CA1842008654 | TEK | c.2705T= (p.Ile902=) c.2576T= (p.Ile859=) c.2261T= (p.Ile754=) c.*1206T= (n.*1206T=) c.2702T= (p.Ile901=) c.2573T= (p.Ile858=) | |
| 9 | g.27212726T>A | CA464169923 | TEK | c.2706T>A (p.Ile902=) c.2577T>A (p.Ile859=) c.2262T>A (p.Ile754=) c.*1207T>A (n.*1207T>A) c.2703T>A (p.Ile901=) c.2574T>A (p.Ile858=) | |
| 9 | g.27212726T>C | CA464169924 | TEK | c.2706T>C (p.Ile902=) c.2577T>C (p.Ile859=) c.2262T>C (p.Ile754=) c.*1207T>C (n.*1207T>C) c.2703T>C (p.Ile901=) c.2574T>C (p.Ile858=) | |
| 9 | g.27212726T>G | CA5016573 | TEK | c.2706T>G (p.Ile902Met) c.2577T>G (p.Ile859Met) c.2262T>G (p.Ile754Met) c.*1207T>G (n.*1207T>G) c.2703T>G (p.Ile901Met) c.2574T>G (p.Ile858Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.27212726T= | CA1842008655 | TEK | c.2706T= (p.Ile902=) c.2577T= (p.Ile859=) c.2262T= (p.Ile754=) c.*1207T= (n.*1207T=) c.2703T= (p.Ile901=) c.2574T= (p.Ile858=) | |
| 9 | g.27212727G>A | CA373122732 | TEK | c.2707G>A (p.Glu903Lys) c.2578G>A (p.Glu860Lys) c.2263G>A (p.Glu755Lys) c.*1208G>A (n.*1208G>A) c.2704G>A (p.Glu902Lys) c.2575G>A (p.Glu859Lys) | |
| 9 | g.27212727G>C | CA373122734 | TEK | c.2707G>C (p.Glu903Gln) c.2578G>C (p.Glu860Gln) c.2263G>C (p.Glu755Gln) c.*1208G>C (n.*1208G>C) c.2704G>C (p.Glu902Gln) c.2575G>C (p.Glu859Gln) | |
| 9 | g.27212727G>T | CA373122737 | TEK | c.2707G>T (p.Glu903Ter) c.2578G>T (p.Glu860Ter) c.2263G>T (p.Glu755Ter) c.*1208G>T (n.*1208G>T) c.2704G>T (p.Glu902Ter) c.2575G>T (p.Glu859Ter) | |
| 9 | g.27212728A>C | CA373122742 | TEK | c.2708A>C (p.Glu903Ala) c.2579A>C (p.Glu860Ala) c.2264A>C (p.Glu755Ala) c.*1209A>C (n.*1209A>C) c.2705A>C (p.Glu902Ala) c.2576A>C (p.Glu859Ala) | |
| 9 | g.27212728A>G | CA373122744 | TEK | c.2708A>G (p.Glu903Gly) c.2579A>G (p.Glu860Gly) c.2264A>G (p.Glu755Gly) c.*1209A>G (n.*1209A>G) c.2705A>G (p.Glu902Gly) c.2576A>G (p.Glu859Gly) | |
| 9 | g.27212728A>T | CA373122748 | TEK | c.2708A>T (p.Glu903Val) c.2579A>T (p.Glu860Val) c.2264A>T (p.Glu755Val) c.*1209A>T (n.*1209A>T) c.2705A>T (p.Glu902Val) c.2576A>T (p.Glu859Val) | |
| 9 | g.27212729G>A | CA464169926 | TEK | c.2709G>A (p.Glu903=) c.2580G>A (p.Glu860=) c.2265G>A (p.Glu755=) c.*1210G>A (n.*1210G>A) c.2706G>A (p.Glu902=) c.2577G>A (p.Glu859=) | gnomAD v4 |
| 9 | g.27212729G>C | CA373122751 | TEK | c.2709G>C (p.Glu903Asp) c.2580G>C (p.Glu860Asp) c.2265G>C (p.Glu755Asp) c.*1210G>C (n.*1210G>C) c.2706G>C (p.Glu902Asp) c.2577G>C (p.Glu859Asp) | |
| 9 | g.27212729G>T | CA373122750 | TEK | c.2709G>T (p.Glu903Asp) c.2580G>T (p.Glu860Asp) c.2265G>T (p.Glu755Asp) c.*1210G>T (n.*1210G>T) c.2706G>T (p.Glu902Asp) c.2577G>T (p.Glu859Asp) | |
| 9 | g.27212730T>A | CA373122755 | TEK | c.2710T>A (p.Tyr904Asn) c.2581T>A (p.Tyr861Asn) c.2266T>A (p.Tyr756Asn) c.*1211T>A (n.*1211T>A) c.2707T>A (p.Tyr903Asn) c.2578T>A (p.Tyr860Asn) | |
| 9 | g.27212730T>C | CA373122757 | TEK | c.2710T>C (p.Tyr904His) c.2581T>C (p.Tyr861His) c.2266T>C (p.Tyr756His) c.*1211T>C (n.*1211T>C) c.2707T>C (p.Tyr903His) c.2578T>C (p.Tyr860His) | |
| 9 | g.27212730T>G | CA373122758 | TEK | c.2710T>G (p.Tyr904Asp) c.2581T>G (p.Tyr861Asp) c.2266T>G (p.Tyr756Asp) c.*1211T>G (n.*1211T>G) c.2707T>G (p.Tyr903Asp) c.2578T>G (p.Tyr860Asp) | |
| 9 | g.27212731A>C | CA373122760 | TEK | c.2711A>C (p.Tyr904Ser) c.2582A>C (p.Tyr861Ser) c.2267A>C (p.Tyr756Ser) c.*1212A>C (n.*1212A>C) c.2708A>C (p.Tyr903Ser) c.2579A>C (p.Tyr860Ser) | |
| 9 | g.27212731A>G | CA373122761 | TEK | c.2711A>G (p.Tyr904Cys) c.2582A>G (p.Tyr861Cys) c.2267A>G (p.Tyr756Cys) c.*1212A>G (n.*1212A>G) c.2708A>G (p.Tyr903Cys) c.2579A>G (p.Tyr860Cys) | |
| 9 | g.27212731A>T | CA373122764 | TEK | c.2711A>T (p.Tyr904Phe) c.2582A>T (p.Tyr861Phe) c.2267A>T (p.Tyr756Phe) c.*1212A>T (n.*1212A>T) c.2708A>T (p.Tyr903Phe) c.2579A>T (p.Tyr860Phe) | |
| 9 | g.27212732C>A | CA373122767 | TEK | c.2712C>A (p.Tyr904Ter) c.2583C>A (p.Tyr861Ter) c.2268C>A (p.Tyr756Ter) c.*1213C>A (n.*1213C>A) c.2709C>A (p.Tyr903Ter) c.2580C>A (p.Tyr860Ter) | gnomAD v4 |
| 9 | g.27212732C= | CA1842008656 | TEK | c.2712C= (p.Tyr904=) c.2583C= (p.Tyr861=) c.2268C= (p.Tyr756=) c.*1213C= (n.*1213C=) c.2709C= (p.Tyr903=) c.2580C= (p.Tyr860=) | |
| 9 | g.27212732C>G | CA373122770 | TEK | c.2712C>G (p.Tyr904Ter) c.2583C>G (p.Tyr861Ter) c.2268C>G (p.Tyr756Ter) c.*1213C>G (n.*1213C>G) c.2709C>G (p.Tyr903Ter) c.2580C>G (p.Tyr860Ter) | |
| 9 | g.27212732C>T | CA5016574 | TEK | c.2712C>T (p.Tyr904=) c.2583C>T (p.Tyr861=) c.2268C>T (p.Tyr756=) c.*1213C>T (n.*1213C>T) c.2709C>T (p.Tyr903=) c.2580C>T (p.Tyr860=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.27212733G>A | CA373122771 | TEK | c.2713G>A (p.Ala905Thr) c.2584G>A (p.Ala862Thr) c.2269G>A (p.Ala757Thr) c.*1214G>A (n.*1214G>A) c.2710G>A (p.Ala904Thr) c.2581G>A (p.Ala861Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.27212733G>C | CA373122772 | TEK | c.2713G>C (p.Ala905Pro) c.2584G>C (p.Ala862Pro) c.2269G>C (p.Ala757Pro) c.*1214G>C (n.*1214G>C) c.2710G>C (p.Ala904Pro) c.2581G>C (p.Ala861Pro) | |
| 9 | g.27212733G= | CA1842008657 | TEK | c.2713G= (p.Ala905=) c.2584G= (p.Ala862=) c.2269G= (p.Ala757=) c.*1214G= (n.*1214G=) c.2710G= (p.Ala904=) c.2581G= (p.Ala861=) | |
| 9 | g.27212733G>T | CA373122774 | TEK | c.2713G>T (p.Ala905Ser) c.2584G>T (p.Ala862Ser) c.2269G>T (p.Ala757Ser) c.*1214G>T (n.*1214G>T) c.2710G>T (p.Ala904Ser) c.2581G>T (p.Ala861Ser) | gnomAD v4 |
| 9 | g.27212734C>A | CA373122780 | TEK | c.2714C>A (p.Ala905Glu) c.2585C>A (p.Ala862Glu) c.2270C>A (p.Ala757Glu) c.*1215C>A (n.*1215C>A) c.2711C>A (p.Ala904Glu) c.2582C>A (p.Ala861Glu) | |
| 9 | g.27212734C>G | CA373122778 | TEK | c.2714C>G (p.Ala905Gly) c.2585C>G (p.Ala862Gly) c.2270C>G (p.Ala757Gly) c.*1215C>G (n.*1215C>G) c.2711C>G (p.Ala904Gly) c.2582C>G (p.Ala861Gly) | |
| 9 | g.27212734C>T | CA373122777 | TEK | c.2714C>T (p.Ala905Val) c.2585C>T (p.Ala862Val) c.2270C>T (p.Ala757Val) c.*1215C>T (n.*1215C>T) c.2711C>T (p.Ala904Val) c.2582C>T (p.Ala861Val) | gnomAD v4 |
| 9 | g.27212735G>A | CA5016575 | TEK | c.2715G>A (p.Ala905=) c.2586G>A (p.Ala862=) c.2271G>A (p.Ala757=) c.*1216G>A (n.*1216G>A) c.2712G>A (p.Ala904=) c.2583G>A (p.Ala861=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.27212735G>C | CA464169927 | TEK | c.2715G>C (p.Ala905=) c.2586G>C (p.Ala862=) c.2271G>C (p.Ala757=) c.*1216G>C (n.*1216G>C) c.2712G>C (p.Ala904=) c.2583G>C (p.Ala861=) | |
| 9 | g.27212735G= | CA1842008658 | TEK | c.2715G= (p.Ala905=) c.2586G= (p.Ala862=) c.2271G= (p.Ala757=) c.*1216G= (n.*1216G=) c.2712G= (p.Ala904=) c.2583G= (p.Ala861=) | |
| 9 | g.27212735G>T | CA464169928 | TEK | c.2715G>T (p.Ala905=) c.2586G>T (p.Ala862=) c.2271G>T (p.Ala757=) c.*1216G>T (n.*1216G>T) c.2712G>T (p.Ala904=) c.2583G>T (p.Ala861=) | gnomAD v4 |
| 9 | g.27212736C>A | CA373122789 | TEK | c.2716C>A (p.Pro906Thr) c.2587C>A (p.Pro863Thr) c.2272C>A (p.Pro758Thr) c.*1217C>A (n.*1217C>A) c.2713C>A (p.Pro905Thr) c.2584C>A (p.Pro862Thr) | |
| 9 | g.27212736C= | CA1842008659 | TEK | c.2716C= (p.Pro906=) c.2587C= (p.Pro863=) c.2272C= (p.Pro758=) c.*1217C= (n.*1217C=) c.2713C= (p.Pro905=) c.2584C= (p.Pro862=) | |
| 9 | g.27212736C>G | CA373122787 | TEK | c.2716C>G (p.Pro906Ala) c.2587C>G (p.Pro863Ala) c.2272C>G (p.Pro758Ala) c.*1217C>G (n.*1217C>G) c.2713C>G (p.Pro905Ala) c.2584C>G (p.Pro862Ala) | |
| 9 | g.27212736C>T | CA373122791 | TEK | c.2716C>T (p.Pro906Ser) c.2587C>T (p.Pro863Ser) c.2272C>T (p.Pro758Ser) c.*1217C>T (n.*1217C>T) c.2713C>T (p.Pro905Ser) c.2584C>T (p.Pro862Ser) | dbSNP |
| 9 | g.27212737C>A | CA373122793 | TEK | c.2717C>A (p.Pro906His) c.2588C>A (p.Pro863His) c.2273C>A (p.Pro758His) c.*1218C>A (n.*1218C>A) c.2714C>A (p.Pro905His) c.2585C>A (p.Pro862His) | gnomAD v4 |
| 9 | g.27212737C= | CA1842008660 | TEK | c.2717C= (p.Pro906=) c.2588C= (p.Pro863=) c.2273C= (p.Pro758=) c.*1218C= (n.*1218C=) c.2714C= (p.Pro905=) c.2585C= (p.Pro862=) | |
| 9 | g.27212737C>G | CA373122796 | TEK | c.2717C>G (p.Pro906Arg) c.2588C>G (p.Pro863Arg) c.2273C>G (p.Pro758Arg) c.*1218C>G (n.*1218C>G) c.2714C>G (p.Pro905Arg) c.2585C>G (p.Pro862Arg) | |
| 9 | g.27212737C>T | CA373122797 | TEK | c.2717C>T (p.Pro906Leu) c.2588C>T (p.Pro863Leu) c.2273C>T (p.Pro758Leu) c.*1218C>T (n.*1218C>T) c.2714C>T (p.Pro905Leu) c.2585C>T (p.Pro862Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.27212738C>A | CA464169929 | TEK | c.2718C>A (p.Pro906=) c.2589C>A (p.Pro863=) c.2274C>A (p.Pro758=) c.*1219C>A (n.*1219C>A) c.2715C>A (p.Pro905=) c.2586C>A (p.Pro862=) | |
| 9 | g.27212738C= | CA1842008661 | TEK | c.2718C= (p.Pro906=) c.2589C= (p.Pro863=) c.2274C= (p.Pro758=) c.*1219C= (n.*1219C=) c.2715C= (p.Pro905=) c.2586C= (p.Pro862=) | |
| 9 | g.27212738C>G | CA10633377 | TEK | c.2718C>G (p.Pro906=) c.2589C>G (p.Pro863=) c.2274C>G (p.Pro758=) c.*1219C>G (n.*1219C>G) c.2715C>G (p.Pro905=) c.2586C>G (p.Pro862=) | ClinVar dbSNP |
| 9 | g.27212738C>T | CA464169930 | TEK | c.2718C>T (p.Pro906=) c.2589C>T (p.Pro863=) c.2274C>T (p.Pro758=) c.*1219C>T (n.*1219C>T) c.2715C>T (p.Pro905=) c.2586C>T (p.Pro862=) | gnomAD v4 |
| 9 | g.27212739C>A | CA373122799 | TEK | c.2719C>A (p.His907Asn) c.2590C>A (p.His864Asn) c.2275C>A (p.His759Asn) c.*1220C>A (n.*1220C>A) c.2716C>A (p.His906Asn) c.2587C>A (p.His863Asn) | |
| 9 | g.27212739C>G | CA373122801 | TEK | c.2719C>G (p.His907Asp) c.2590C>G (p.His864Asp) c.2275C>G (p.His759Asp) c.*1220C>G (n.*1220C>G) c.2716C>G (p.His906Asp) c.2587C>G (p.His863Asp) | |
| 9 | g.27212739C>T | CA373122803 | TEK | c.2719C>T (p.His907Tyr) c.2590C>T (p.His864Tyr) c.2275C>T (p.His759Tyr) c.*1220C>T (n.*1220C>T) c.2716C>T (p.His906Tyr) c.2587C>T (p.His863Tyr) | |
| 9 | g.27212740A= | CA1842008662 | TEK | c.2720A= (p.His907=) c.2591A= (p.His864=) c.2276A= (p.His759=) c.*1221A= (n.*1221A=) c.2717A= (p.His906=) c.2588A= (p.His863=) | |
| 9 | g.27212740A>C | CA373122807 | TEK | c.2720A>C (p.His907Pro) c.2591A>C (p.His864Pro) c.2276A>C (p.His759Pro) c.*1221A>C (n.*1221A>C) c.2717A>C (p.His906Pro) c.2588A>C (p.His863Pro) | |
| 9 | g.27212740A>G | CA191308693 | TEK | c.2720A>G (p.His907Arg) c.2591A>G (p.His864Arg) c.2276A>G (p.His759Arg) c.*1221A>G (n.*1221A>G) c.2717A>G (p.His906Arg) c.2588A>G (p.His863Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.27212740A>T | CA373122813 | TEK | c.2720A>T (p.His907Leu) c.2591A>T (p.His864Leu) c.2276A>T (p.His759Leu) c.*1221A>T (n.*1221A>T) c.2717A>T (p.His906Leu) c.2588A>T (p.His863Leu) | |
| 9 | g.27212741T>A | CA373122819 | TEK | c.2721T>A (p.His907Gln) c.2592T>A (p.His864Gln) c.2277T>A (p.His759Gln) c.*1222T>A (n.*1222T>A) c.2718T>A (p.His906Gln) c.2589T>A (p.His863Gln) | |
| 9 | g.27212741T>C | CA464169931 | TEK | c.2721T>C (p.His907=) c.2592T>C (p.His864=) c.2277T>C (p.His759=) c.*1222T>C (n.*1222T>C) c.2718T>C (p.His906=) c.2589T>C (p.His863=) | |
| 9 | g.27212741T>G | CA373122822 | TEK | c.2721T>G (p.His907Gln) c.2592T>G (p.His864Gln) c.2277T>G (p.His759Gln) c.*1222T>G (n.*1222T>G) c.2718T>G (p.His906Gln) c.2589T>G (p.His863Gln) | |
| 9 | g.27212742G>A | CA373122834 | TEK | c.2722G>A (p.Gly908Arg) c.2593G>A (p.Gly865Arg) c.2278G>A (p.Gly760Arg) c.*1223G>A (n.*1223G>A) c.2719G>A (p.Gly907Arg) c.2590G>A (p.Gly864Arg) | |
| 9 | g.27212742G>C | CA373122831 | TEK | c.2722G>C (p.Gly908Arg) c.2593G>C (p.Gly865Arg) c.2278G>C (p.Gly760Arg) c.*1223G>C (n.*1223G>C) c.2719G>C (p.Gly907Arg) c.2590G>C (p.Gly864Arg) | |
| 9 | g.27212742G>T | CA373122832 | TEK | c.2722G>T (p.Gly908Ter) c.2593G>T (p.Gly865Ter) c.2278G>T (p.Gly760Ter) c.*1223G>T (n.*1223G>T) c.2719G>T (p.Gly907Ter) c.2590G>T (p.Gly864Ter) | |
| 9 | g.27212743G>A | CA373122837 | TEK | c.2723G>A (p.Gly908Glu) c.2594G>A (p.Gly865Glu) c.2279G>A (p.Gly760Glu) c.*1224G>A (n.*1224G>A) c.2720G>A (p.Gly907Glu) c.2591G>A (p.Gly864Glu) | |
| 9 | g.27212743G>C | CA373122838 | TEK | c.2723G>C (p.Gly908Ala) c.2594G>C (p.Gly865Ala) c.2279G>C (p.Gly760Ala) c.*1224G>C (n.*1224G>C) c.2720G>C (p.Gly907Ala) c.2591G>C (p.Gly864Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.27212743G= | CA1842008663 | TEK | c.2723G= (p.Gly908=) c.2594G= (p.Gly865=) c.2279G= (p.Gly760=) c.*1224G= (n.*1224G=) c.2720G= (p.Gly907=) c.2591G= (p.Gly864=) | |
| 9 | g.27212743G>T | CA373122842 | TEK | c.2723G>T (p.Gly908Val) c.2594G>T (p.Gly865Val) c.2279G>T (p.Gly760Val) c.*1224G>T (n.*1224G>T) c.2720G>T (p.Gly907Val) c.2591G>T (p.Gly864Val) | |
| 9 | g.27212744A>C | CA464169932 | TEK | c.2724A>C (p.Gly908=) c.2595A>C (p.Gly865=) c.2280A>C (p.Gly760=) c.*1225A>C (n.*1225A>C) c.2721A>C (p.Gly907=) c.2592A>C (p.Gly864=) | |
| 9 | g.27212744A>G | CA464169933 | TEK | c.2724A>G (p.Gly908=) c.2595A>G (p.Gly865=) c.2280A>G (p.Gly760=) c.*1225A>G (n.*1225A>G) c.2721A>G (p.Gly907=) c.2592A>G (p.Gly864=) | |
| 9 | g.27212744A>T | CA464169934 | TEK | c.2724A>T (p.Gly908=) c.2595A>T (p.Gly865=) c.2280A>T (p.Gly760=) c.*1225A>T (n.*1225A>T) c.2721A>T (p.Gly907=) c.2592A>T (p.Gly864=) | |
| 9 | g.27212745A>C | CA373122845 | TEK | c.2725A>C (p.Asn909His) c.2596A>C (p.Asn866His) c.2281A>C (p.Asn761His) c.*1226A>C (n.*1226A>C) c.2722A>C (p.Asn908His) c.2593A>C (p.Asn865His) | |
| 9 | g.27212745A>G | CA373122848 | TEK | c.2725A>G (p.Asn909Asp) c.2596A>G (p.Asn866Asp) c.2281A>G (p.Asn761Asp) c.*1226A>G (n.*1226A>G) c.2722A>G (p.Asn908Asp) c.2593A>G (p.Asn865Asp) | |
| 9 | g.27212745A>T | CA373122851 | TEK | c.2725A>T (p.Asn909Tyr) c.2596A>T (p.Asn866Tyr) c.2281A>T (p.Asn761Tyr) c.*1226A>T (n.*1226A>T) c.2722A>T (p.Asn908Tyr) c.2593A>T (p.Asn865Tyr) | |
| 9 | g.27212746A>C | CA373122855 | TEK | c.2726A>C (p.Asn909Thr) c.2597A>C (p.Asn866Thr) c.2282A>C (p.Asn761Thr) c.*1227A>C (n.*1227A>C) c.2723A>C (p.Asn908Thr) c.2594A>C (p.Asn865Thr) | |
| 9 | g.27212746A>G | CA373122856 | TEK | c.2726A>G (p.Asn909Ser) c.2597A>G (p.Asn866Ser) c.2282A>G (p.Asn761Ser) c.*1227A>G (n.*1227A>G) c.2723A>G (p.Asn908Ser) c.2594A>G (p.Asn865Ser) | |
| 9 | g.27212746A>T | CA373122863 | TEK | c.2726A>T (p.Asn909Ile) c.2597A>T (p.Asn866Ile) c.2282A>T (p.Asn761Ile) c.*1227A>T (n.*1227A>T) c.2723A>T (p.Asn908Ile) c.2594A>T (p.Asn865Ile) | |
| 9 | g.27212747C>A | CA373122868 | TEK | c.2727C>A (p.Asn909Lys) c.2598C>A (p.Asn866Lys) c.2283C>A (p.Asn761Lys) c.*1228C>A (n.*1228C>A) c.2724C>A (p.Asn908Lys) c.2595C>A (p.Asn865Lys) | |
| 9 | g.27212747C>G | CA373122871 | TEK | c.2727C>G (p.Asn909Lys) c.2598C>G (p.Asn866Lys) c.2283C>G (p.Asn761Lys) c.*1228C>G (n.*1228C>G) c.2724C>G (p.Asn908Lys) c.2595C>G (p.Asn865Lys) | |
| 9 | g.27212747C>T | CA464169935 | TEK | c.2727C>T (p.Asn909=) c.2598C>T (p.Asn866=) c.2283C>T (p.Asn761=) c.*1228C>T (n.*1228C>T) c.2724C>T (p.Asn908=) c.2595C>T (p.Asn865=) | gnomAD v4 |
| 9 | g.27212748C>A | CA373122880 | TEK | c.2728C>A (p.Leu910Ile) c.2599C>A (p.Leu867Ile) c.2284C>A (p.Leu762Ile) c.*1229C>A (n.*1229C>A) c.2725C>A (p.Leu909Ile) c.2596C>A (p.Leu866Ile) | |
| 9 | g.27212748C>G | CA373122878 | TEK | c.2728C>G (p.Leu910Val) c.2599C>G (p.Leu867Val) c.2284C>G (p.Leu762Val) c.*1229C>G (n.*1229C>G) c.2725C>G (p.Leu909Val) c.2596C>G (p.Leu866Val) | |
| 9 | g.27212748C>T | CA373122875 | TEK | c.2728C>T (p.Leu910Phe) c.2599C>T (p.Leu867Phe) c.2284C>T (p.Leu762Phe) c.*1229C>T (n.*1229C>T) c.2725C>T (p.Leu909Phe) c.2596C>T (p.Leu866Phe) | |
| 9 | g.27212749T>A | CA373122884 | TEK | c.2729T>A (p.Leu910His) c.2600T>A (p.Leu867His) c.2285T>A (p.Leu762His) c.*1230T>A (n.*1230T>A) c.2726T>A (p.Leu909His) c.2597T>A (p.Leu866His) | |
| 9 | g.27212749T>C | CA373122885 | TEK | c.2729T>C (p.Leu910Pro) c.2600T>C (p.Leu867Pro) c.2285T>C (p.Leu762Pro) c.*1230T>C (n.*1230T>C) c.2726T>C (p.Leu909Pro) c.2597T>C (p.Leu866Pro) | |
| 9 | g.27212749T>G | CA373122889 | TEK | c.2729T>G (p.Leu910Arg) c.2600T>G (p.Leu867Arg) c.2285T>G (p.Leu762Arg) c.*1230T>G (n.*1230T>G) c.2726T>G (p.Leu909Arg) c.2597T>G (p.Leu866Arg) | |
| 9 | g.27212750T>A | CA464169937 | TEK | c.2730T>A (p.Leu910=) c.2601T>A (p.Leu867=) c.2286T>A (p.Leu762=) c.*1231T>A (n.*1231T>A) c.2727T>A (p.Leu909=) c.2598T>A (p.Leu866=) | |
| 9 | g.27212750T>C | CA464169938 | TEK | c.2730T>C (p.Leu910=) c.2601T>C (p.Leu867=) c.2286T>C (p.Leu762=) c.*1231T>C (n.*1231T>C) c.2727T>C (p.Leu909=) c.2598T>C (p.Leu866=) | |
| 9 | g.27212750T>G | CA464169939 | TEK | c.2730T>G (p.Leu910=) c.2601T>G (p.Leu867=) c.2286T>G (p.Leu762=) c.*1231T>G (n.*1231T>G) c.2727T>G (p.Leu909=) c.2598T>G (p.Leu866=) | |
| 9 | g.27212751C>A | CA373122893 | TEK | c.2731C>A (p.Leu911Met) c.2602C>A (p.Leu868Met) c.2287C>A (p.Leu763Met) c.*1232C>A (n.*1232C>A) c.2728C>A (p.Leu910Met) c.2599C>A (p.Leu867Met) | |
| 9 | g.27212751C>G | CA373122895 | TEK | c.2731C>G (p.Leu911Val) c.2602C>G (p.Leu868Val) c.2287C>G (p.Leu763Val) c.*1232C>G (n.*1232C>G) c.2728C>G (p.Leu910Val) c.2599C>G (p.Leu867Val) | |
| 9 | g.27212751C>T | CA464169940 | TEK | c.2731C>T (p.Leu911=) c.2602C>T (p.Leu868=) c.2287C>T (p.Leu763=) c.*1232C>T (n.*1232C>T) c.2728C>T (p.Leu910=) c.2599C>T (p.Leu867=) | |
| 9 | g.27212752T>A | CA373122899 | TEK | c.2732T>A (p.Leu911Gln) c.2603T>A (p.Leu868Gln) c.2288T>A (p.Leu763Gln) c.*1233T>A (n.*1233T>A) c.2729T>A (p.Leu910Gln) c.2600T>A (p.Leu867Gln) | |
| 9 | g.27212752T>C | CA373122902 | TEK | c.2732T>C (p.Leu911Pro) c.2603T>C (p.Leu868Pro) c.2288T>C (p.Leu763Pro) c.*1233T>C (n.*1233T>C) c.2729T>C (p.Leu910Pro) c.2600T>C (p.Leu867Pro) | |
| 9 | g.27212752T>G | CA373122903 | TEK | c.2732T>G (p.Leu911Arg) c.2603T>G (p.Leu868Arg) c.2288T>G (p.Leu763Arg) c.*1233T>G (n.*1233T>G) c.2729T>G (p.Leu910Arg) c.2600T>G (p.Leu867Arg) | |
| 9 | g.27212753G>A | CA464169941 | TEK | c.2733G>A (p.Leu911=) c.2604G>A (p.Leu868=) c.2289G>A (p.Leu763=) c.*1234G>A (n.*1234G>A) c.2730G>A (p.Leu910=) c.2601G>A (p.Leu867=) | dbSNP gnomAD v4 |
| 9 | g.27212753G>C | CA464169942 | TEK | c.2733G>C (p.Leu911=) c.2604G>C (p.Leu868=) c.2289G>C (p.Leu763=) c.*1234G>C (n.*1234G>C) c.2730G>C (p.Leu910=) c.2601G>C (p.Leu867=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.27212753G= | CA1842008664 | TEK | c.2733G= (p.Leu911=) c.2604G= (p.Leu868=) c.2289G= (p.Leu763=) c.*1234G= (n.*1234G=) c.2730G= (p.Leu910=) c.2601G= (p.Leu867=) | |
| 9 | g.27212753G>T | CA464169943 | TEK | c.2733G>T (p.Leu911=) c.2604G>T (p.Leu868=) c.2289G>T (p.Leu763=) c.*1234G>T (n.*1234G>T) c.2730G>T (p.Leu910=) c.2601G>T (p.Leu867=) | |
| 9 | g.27212754G>A | CA373122906 | TEK | c.2734G>A (p.Asp912Asn) c.2605G>A (p.Asp869Asn) c.2290G>A (p.Asp764Asn) c.*1235G>A (n.*1235G>A) c.2731G>A (p.Asp911Asn) c.2602G>A (p.Asp868Asn) | |
| 9 | g.27212754G>C | CA373122910 | TEK | c.2734G>C (p.Asp912His) c.2605G>C (p.Asp869His) c.2290G>C (p.Asp764His) c.*1235G>C (n.*1235G>C) c.2731G>C (p.Asp911His) c.2602G>C (p.Asp868His) | |
| 9 | g.27212754G>T | CA373122912 | TEK | c.2734G>T (p.Asp912Tyr) c.2605G>T (p.Asp869Tyr) c.2290G>T (p.Asp764Tyr) c.*1235G>T (n.*1235G>T) c.2731G>T (p.Asp911Tyr) c.2602G>T (p.Asp868Tyr) | |
| 9 | g.27212755A>C | CA373122922 | TEK | c.2735A>C (p.Asp912Ala) c.2606A>C (p.Asp869Ala) c.2291A>C (p.Asp764Ala) c.*1236A>C (n.*1236A>C) c.2732A>C (p.Asp911Ala) c.2603A>C (p.Asp868Ala) | |
| 9 | g.27212755A>G | CA373122918 | TEK | c.2735A>G (p.Asp912Gly) c.2606A>G (p.Asp869Gly) c.2291A>G (p.Asp764Gly) c.*1236A>G (n.*1236A>G) c.2732A>G (p.Asp911Gly) c.2603A>G (p.Asp868Gly) | |
| 9 | g.27212755A>T | CA373122915 | TEK | c.2735A>T (p.Asp912Val) c.2606A>T (p.Asp869Val) c.2291A>T (p.Asp764Val) c.*1236A>T (n.*1236A>T) c.2732A>T (p.Asp911Val) c.2603A>T (p.Asp868Val) | |
| 9 | g.27212756C>A | CA373122925 | TEK | c.2736C>A (p.Asp912Glu) c.2607C>A (p.Asp869Glu) c.2292C>A (p.Asp764Glu) c.*1237C>A (n.*1237C>A) c.2733C>A (p.Asp911Glu) c.2604C>A (p.Asp868Glu) | |
| 9 | g.27212756C>G | CA373122928 | TEK | c.2736C>G (p.Asp912Glu) c.2607C>G (p.Asp869Glu) c.2292C>G (p.Asp764Glu) c.*1237C>G (n.*1237C>G) c.2733C>G (p.Asp911Glu) c.2604C>G (p.Asp868Glu) | |
| 9 | g.27212756C>T | CA464169944 | TEK | c.2736C>T (p.Asp912=) c.2607C>T (p.Asp869=) c.2292C>T (p.Asp764=) c.*1237C>T (n.*1237C>T) c.2733C>T (p.Asp911=) c.2604C>T (p.Asp868=) | |
| 9 | g.27212757T>A | CA373122932 | TEK | c.2737T>A (p.Phe913Ile) c.2608T>A (p.Phe870Ile) c.2293T>A (p.Phe765Ile) c.*1238T>A (n.*1238T>A) c.2734T>A (p.Phe912Ile) c.2605T>A (p.Phe869Ile) | |
| 9 | g.27212757T>C | CA373122935 | TEK | c.2737T>C (p.Phe913Leu) c.2608T>C (p.Phe870Leu) c.2293T>C (p.Phe765Leu) c.*1238T>C (n.*1238T>C) c.2734T>C (p.Phe912Leu) c.2605T>C (p.Phe869Leu) | |
| 9 | g.27212757T>G | CA373122936 | TEK | c.2737T>G (p.Phe913Val) c.2608T>G (p.Phe870Val) c.2293T>G (p.Phe765Val) c.*1238T>G (n.*1238T>G) c.2734T>G (p.Phe912Val) c.2605T>G (p.Phe869Val) | |
| 9 | g.27212758T>A | CA373122937 | TEK | c.2738T>A (p.Phe913Tyr) c.2609T>A (p.Phe870Tyr) c.2294T>A (p.Phe765Tyr) c.*1239T>A (n.*1239T>A) c.2735T>A (p.Phe912Tyr) c.2606T>A (p.Phe869Tyr) | |
| 9 | g.27212758T>C | CA373122938 | TEK | c.2738T>C (p.Phe913Ser) c.2609T>C (p.Phe870Ser) c.2294T>C (p.Phe765Ser) c.*1239T>C (n.*1239T>C) c.2735T>C (p.Phe912Ser) c.2606T>C (p.Phe869Ser) | |
| 9 | g.27212758T>G | CA373122939 | TEK | c.2738T>G (p.Phe913Cys) c.2609T>G (p.Phe870Cys) c.2294T>G (p.Phe765Cys) c.*1239T>G (n.*1239T>G) c.2735T>G (p.Phe912Cys) c.2606T>G (p.Phe869Cys) | |
| 9 | g.27212758T= | CA1842008665 | TEK | c.2738T= (p.Phe913=) c.2609T= (p.Phe870=) c.2294T= (p.Phe765=) c.*1239T= (n.*1239T=) c.2735T= (p.Phe912=) c.2606T= (p.Phe869=) | |
| 9 | g.27212759C>A | CA373122941 | TEK | c.2739C>A (p.Phe913Leu) c.2610C>A (p.Phe870Leu) c.2295C>A (p.Phe765Leu) c.*1240C>A (n.*1240C>A) c.2736C>A (p.Phe912Leu) c.2607C>A (p.Phe869Leu) | |
| 9 | g.27212759C>G | CA373122943 | TEK | c.2739C>G (p.Phe913Leu) c.2610C>G (p.Phe870Leu) c.2295C>G (p.Phe765Leu) c.*1240C>G (n.*1240C>G) c.2736C>G (p.Phe912Leu) c.2607C>G (p.Phe869Leu) | |
| 9 | g.27212759C>T | CA464169945 | TEK | c.2739C>T (p.Phe913=) c.2610C>T (p.Phe870=) c.2295C>T (p.Phe765=) c.*1240C>T (n.*1240C>T) c.2736C>T (p.Phe912=) c.2607C>T (p.Phe869=) | |
| 9 | g.27212760dup | CA587127976 | TEK | c.2740dup (p.Leu914ProfsTer18) c.2611dup (p.Leu871ProfsTer18) c.2296dup (p.Leu766ProfsTer18) c.*1241dup (n.*1241dup) c.2737dup (p.Leu913ProfsTer18) c.2608dup (p.Leu870ProfsTer18) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.27212760C>A | CA373122947 | TEK | c.2740C>A (p.Leu914Ile) c.2611C>A (p.Leu871Ile) c.2296C>A (p.Leu766Ile) c.*1241C>A (n.*1241C>A) c.2737C>A (p.Leu913Ile) c.2608C>A (p.Leu870Ile) | |
| 9 | g.27212760C= | CA1842008666 | TEK | c.2740C= (p.Leu914=) c.2611C= (p.Leu871=) c.2296C= (p.Leu766=) c.*1241C= (n.*1241C=) c.2737C= (p.Leu913=) c.2608C= (p.Leu870=) | |
| 9 | g.27212760C>G | CA373122950 | TEK | c.2740C>G (p.Leu914Val) c.2611C>G (p.Leu871Val) c.2296C>G (p.Leu766Val) c.*1241C>G (n.*1241C>G) c.2737C>G (p.Leu913Val) c.2608C>G (p.Leu870Val) | |
| 9 | g.27212760C>T | CA373122952 | TEK | c.2740C>T (p.Leu914Phe) c.2611C>T (p.Leu871Phe) c.2296C>T (p.Leu766Phe) c.*1241C>T (n.*1241C>T) c.2737C>T (p.Leu913Phe) c.2608C>T (p.Leu870Phe) | ClinVar dbSNP |
| 9 | g.27212761T>A | CA373122959 | TEK | c.2741T>A (p.Leu914His) c.2612T>A (p.Leu871His) c.2297T>A (p.Leu766His) c.*1242T>A (n.*1242T>A) c.2738T>A (p.Leu913His) c.2609T>A (p.Leu870His) | |
| 9 | g.27212761T>C | CA373122963 | TEK | c.2741T>C (p.Leu914Pro) c.2612T>C (p.Leu871Pro) c.2297T>C (p.Leu766Pro) c.*1242T>C (n.*1242T>C) c.2738T>C (p.Leu913Pro) c.2609T>C (p.Leu870Pro) | |
| 9 | g.27212761T>G | CA373122957 | TEK | c.2741T>G (p.Leu914Arg) c.2612T>G (p.Leu871Arg) c.2297T>G (p.Leu766Arg) c.*1242T>G (n.*1242T>G) c.2738T>G (p.Leu913Arg) c.2609T>G (p.Leu870Arg) | |
| 9 | g.27212762T>A | CA464169946 | TEK | c.2742T>A (p.Leu914=) c.2613T>A (p.Leu871=) c.2298T>A (p.Leu766=) c.*1243T>A (n.*1243T>A) c.2739T>A (p.Leu913=) c.2610T>A (p.Leu870=) | |
| 9 | g.27212762T>C | CA464169947 | TEK | c.2742T>C (p.Leu914=) c.2613T>C (p.Leu871=) c.2298T>C (p.Leu766=) c.*1243T>C (n.*1243T>C) c.2739T>C (p.Leu913=) c.2610T>C (p.Leu870=) | |
| 9 | g.27212762T>G | CA464169948 | TEK | c.2742T>G (p.Leu914=) c.2613T>G (p.Leu871=) c.2298T>G (p.Leu766=) c.*1243T>G (n.*1243T>G) c.2739T>G (p.Leu913=) c.2610T>G (p.Leu870=) | dbSNP |
| 9 | g.27212763C>A | CA373122975 | TEK | c.2743C>A (p.Arg915Ser) c.2614C>A (p.Arg872Ser) c.2299C>A (p.Arg767Ser) c.*1244C>A (n.*1244C>A) c.2740C>A (p.Arg914Ser) c.2611C>A (p.Arg871Ser) | |
| 9 | g.27212763C= | CA1842008667 | TEK | c.2743C= (p.Arg915=) c.2614C= (p.Arg872=) c.2299C= (p.Arg767=) c.*1244C= (n.*1244C=) c.2740C= (p.Arg914=) c.2611C= (p.Arg871=) | |
| 9 | g.27212763C>G | CA373122969 | TEK | c.2743C>G (p.Arg915Gly) c.2614C>G (p.Arg872Gly) c.2299C>G (p.Arg767Gly) c.*1244C>G (n.*1244C>G) c.2740C>G (p.Arg914Gly) c.2611C>G (p.Arg871Gly) | |
| 9 | g.27212763C>T | CA373122973 | TEK | c.2743C>T (p.Arg915Cys) c.2614C>T (p.Arg872Cys) c.2299C>T (p.Arg767Cys) c.*1244C>T (n.*1244C>T) c.2740C>T (p.Arg914Cys) c.2611C>T (p.Arg871Cys) | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.27212764G>A | CA259743 | TEK | c.2744G>A (p.Arg915His) c.2615G>A (p.Arg872His) c.2300G>A (p.Arg767His) c.*1245G>A (n.*1245G>A) c.2741G>A (p.Arg914His) c.2612G>A (p.Arg871His) | ClinVar dbSNP gnomAD v4 |
| 9 | g.27212764G>C | CA373122980 | TEK | c.2744G>C (p.Arg915Pro) c.2615G>C (p.Arg872Pro) c.2300G>C (p.Arg767Pro) c.*1245G>C (n.*1245G>C) c.2741G>C (p.Arg914Pro) c.2612G>C (p.Arg871Pro) | |
| 9 | g.27212764G= | CA1842008668 | TEK | c.2744G= (p.Arg915=) c.2615G= (p.Arg872=) c.2300G= (p.Arg767=) c.*1245G= (n.*1245G=) c.2741G= (p.Arg914=) c.2612G= (p.Arg871=) | |
| 9 | g.27212764G>T | CA373122982 | TEK | c.2744G>T (p.Arg915Leu) c.2615G>T (p.Arg872Leu) c.2300G>T (p.Arg767Leu) c.*1245G>T (n.*1245G>T) c.2741G>T (p.Arg914Leu) c.2612G>T (p.Arg871Leu) | |
| 9 | g.27212765C>A | CA464169949 | TEK | c.2745C>A (p.Arg915=) c.2616C>A (p.Arg872=) c.2301C>A (p.Arg767=) c.*1246C>A (n.*1246C>A) c.2742C>A (p.Arg914=) c.2613C>A (p.Arg871=) | |
| 9 | g.27212765C>G | CA464169950 | TEK | c.2745C>G (p.Arg915=) c.2616C>G (p.Arg872=) c.2301C>G (p.Arg767=) c.*1246C>G (n.*1246C>G) c.2742C>G (p.Arg914=) c.2613C>G (p.Arg871=) | |
| 9 | g.27212765C>T | CA464169951 | TEK | c.2745C>T (p.Arg915=) c.2616C>T (p.Arg872=) c.2301C>T (p.Arg767=) c.*1246C>T (n.*1246C>T) c.2742C>T (p.Arg914=) c.2613C>T (p.Arg871=) | |
| 9 | g.27212766A>C | CA373122986 | TEK | c.2746A>C (p.Lys916Gln) c.2617A>C (p.Lys873Gln) c.2302A>C (p.Lys768Gln) c.*1247A>C (n.*1247A>C) c.2743A>C (p.Lys915Gln) c.2614A>C (p.Lys872Gln) | |
| 9 | g.27212766A>G | CA373122988 | TEK | c.2746A>G (p.Lys916Glu) c.2617A>G (p.Lys873Glu) c.2302A>G (p.Lys768Glu) c.*1247A>G (n.*1247A>G) c.2743A>G (p.Lys915Glu) c.2614A>G (p.Lys872Glu) | |
| 9 | g.27212766A>T | CA373122991 | TEK | c.2746A>T (p.Lys916Ter) c.2617A>T (p.Lys873Ter) c.2302A>T (p.Lys768Ter) c.*1247A>T (n.*1247A>T) c.2743A>T (p.Lys915Ter) c.2614A>T (p.Lys872Ter) | |
| 9 | g.27212767A>C | CA373122996 | TEK | c.2747A>C (p.Lys916Thr) c.2618A>C (p.Lys873Thr) c.2303A>C (p.Lys768Thr) c.*1248A>C (n.*1248A>C) c.2744A>C (p.Lys915Thr) c.2615A>C (p.Lys872Thr) | |
| 9 | g.27212767A>G | CA373122998 | TEK | c.2747A>G (p.Lys916Arg) c.2618A>G (p.Lys873Arg) c.2303A>G (p.Lys768Arg) c.*1248A>G (n.*1248A>G) c.2744A>G (p.Lys915Arg) c.2615A>G (p.Lys872Arg) | |
| 9 | g.27212767A>T | CA373123002 | TEK | c.2747A>T (p.Lys916Met) c.2618A>T (p.Lys873Met) c.2303A>T (p.Lys768Met) c.*1248A>T (n.*1248A>T) c.2744A>T (p.Lys915Met) c.2615A>T (p.Lys872Met) | |
| 9 | g.27212768G>A | CA464169952 | TEK | c.2748G>A (p.Lys916=) c.2619G>A (p.Lys873=) c.2304G>A (p.Lys768=) c.*1249G>A (n.*1249G>A) c.2745G>A (p.Lys915=) c.2616G>A (p.Lys872=) | |
| 9 | g.27212768G>C | CA373123006 | TEK | c.2748G>C (p.Lys916Asn) c.2619G>C (p.Lys873Asn) c.2304G>C (p.Lys768Asn) c.*1249G>C (n.*1249G>C) c.2745G>C (p.Lys915Asn) c.2616G>C (p.Lys872Asn) | |
| 9 | g.27212768G>T | CA373123009 | TEK | c.2748G>T (p.Lys916Asn) c.2619G>T (p.Lys873Asn) c.2304G>T (p.Lys768Asn) c.*1249G>T (n.*1249G>T) c.2745G>T (p.Lys915Asn) c.2616G>T (p.Lys872Asn) | |
| 9 | g.27212769A>C | CA373123016 | TEK | c.2749A>C (p.Ser917Arg) c.2620A>C (p.Ser874Arg) c.2305A>C (p.Ser769Arg) c.*1250A>C (n.*1250A>C) c.2746A>C (p.Ser916Arg) c.2617A>C (p.Ser873Arg) | |
| 9 | g.27212769A>G | CA373123012 | TEK | c.2749A>G (p.Ser917Gly) c.2620A>G (p.Ser874Gly) c.2305A>G (p.Ser769Gly) c.*1250A>G (n.*1250A>G) c.2746A>G (p.Ser916Gly) c.2617A>G (p.Ser873Gly) | |
| 9 | g.27212769A>T | CA373123015 | TEK | c.2749A>T (p.Ser917Cys) c.2620A>T (p.Ser874Cys) c.2305A>T (p.Ser769Cys) c.*1250A>T (n.*1250A>T) c.2746A>T (p.Ser916Cys) c.2617A>T (p.Ser873Cys) | |
| 9 | g.27212770G>A | CA373123017 | TEK | c.2750G>A (p.Ser917Asn) c.2621G>A (p.Ser874Asn) c.2306G>A (p.Ser769Asn) c.*1251G>A (n.*1251G>A) c.2747G>A (p.Ser916Asn) c.2618G>A (p.Ser873Asn) | |
| 9 | g.27212770G>C | CA373123019 | TEK | c.2750G>C (p.Ser917Thr) c.2621G>C (p.Ser874Thr) c.2306G>C (p.Ser769Thr) c.*1251G>C (n.*1251G>C) c.2747G>C (p.Ser916Thr) c.2618G>C (p.Ser873Thr) | |
| 9 | g.27212770G>T | CA373123022 | TEK | c.2750G>T (p.Ser917Ile) c.2621G>T (p.Ser874Ile) c.2306G>T (p.Ser769Ile) c.*1251G>T (n.*1251G>T) c.2747G>T (p.Ser916Ile) c.2618G>T (p.Ser873Ile) | |
| 9 | g.27212771C>A | CA373123027 | TEK | c.2751C>A (p.Ser917Arg) c.2622C>A (p.Ser874Arg) c.2307C>A (p.Ser769Arg) c.*1252C>A (n.*1252C>A) c.2748C>A (p.Ser916Arg) c.2619C>A (p.Ser873Arg) | |
| 9 | g.27212771C= | CA1842008669 | TEK | c.2751C= (p.Ser917=) c.2622C= (p.Ser874=) c.2307C= (p.Ser769=) c.*1252C= (n.*1252C=) c.2748C= (p.Ser916=) c.2619C= (p.Ser873=) | |
| 9 | g.27212771C>G | CA373123029 | TEK | c.2751C>G (p.Ser917Arg) c.2622C>G (p.Ser874Arg) c.2307C>G (p.Ser769Arg) c.*1252C>G (n.*1252C>G) c.2748C>G (p.Ser916Arg) c.2619C>G (p.Ser873Arg) | |
| 9 | g.27212771C>T | CA5016576 | TEK | c.2751C>T (p.Ser917=) c.2622C>T (p.Ser874=) c.2307C>T (p.Ser769=) c.*1252C>T (n.*1252C>T) c.2748C>T (p.Ser916=) c.2619C>T (p.Ser873=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.27212772C>A | CA373123033 | TEK | c.2752C>A (p.Arg918Ser) c.2623C>A (p.Arg875Ser) c.2308C>A (p.Arg770Ser) c.*1253C>A (n.*1253C>A) c.2749C>A (p.Arg917Ser) c.2620C>A (p.Arg874Ser) | |
| 9 | g.27212772C= | CA1842008670 | TEK | c.2752C= (p.Arg918=) c.2623C= (p.Arg875=) c.2308C= (p.Arg770=) c.*1253C= (n.*1253C=) c.2749C= (p.Arg917=) c.2620C= (p.Arg874=) | |
| 9 | g.27212772C>G | CA373123035 | TEK | c.2752C>G (p.Arg918Gly) c.2623C>G (p.Arg875Gly) c.2308C>G (p.Arg770Gly) c.*1253C>G (n.*1253C>G) c.2749C>G (p.Arg917Gly) c.2620C>G (p.Arg874Gly) | |
| 9 | g.27212772C>T | CA373123037 | TEK | c.2752C>T (p.Arg918Cys) c.2623C>T (p.Arg875Cys) c.2308C>T (p.Arg770Cys) c.*1253C>T (n.*1253C>T) c.2749C>T (p.Arg917Cys) c.2620C>T (p.Arg874Cys) | ClinVar dbSNP |
| 9 | g.27212773G>A | CA373123039 | TEK | c.2753G>A (p.Arg918His) c.2624G>A (p.Arg875His) c.2309G>A (p.Arg770His) c.*1254G>A (n.*1254G>A) c.2750G>A (p.Arg917His) c.2621G>A (p.Arg874His) | ClinVar dbSNP |
| 9 | g.27212773G>C | CA373123042 | TEK | c.2753G>C (p.Arg918Pro) c.2624G>C (p.Arg875Pro) c.2309G>C (p.Arg770Pro) c.*1254G>C (n.*1254G>C) c.2750G>C (p.Arg917Pro) c.2621G>C (p.Arg874Pro) | |
| 9 | g.27212773G= | CA1842008671 | TEK | c.2753G= (p.Arg918=) c.2624G= (p.Arg875=) c.2309G= (p.Arg770=) c.*1254G= (n.*1254G=) c.2750G= (p.Arg917=) c.2621G= (p.Arg874=) | |
| 9 | g.27212773G>T | CA373123046 | TEK | c.2753G>T (p.Arg918Leu) c.2624G>T (p.Arg875Leu) c.2309G>T (p.Arg770Leu) c.*1254G>T (n.*1254G>T) c.2750G>T (p.Arg917Leu) c.2621G>T (p.Arg874Leu) | COSMIC |
| 9 | g.27212774T>A | CA464169953 | TEK | c.2754T>A (p.Arg918=) c.2625T>A (p.Arg875=) c.2310T>A (p.Arg770=) c.*1255T>A (n.*1255T>A) c.2751T>A (p.Arg917=) c.2622T>A (p.Arg874=) | |
| 9 | g.27212774T>C | CA464169955 | TEK | c.2754T>C (p.Arg918=) c.2625T>C (p.Arg875=) c.2310T>C (p.Arg770=) c.*1255T>C (n.*1255T>C) c.2751T>C (p.Arg917=) c.2622T>C (p.Arg874=) | |
| 9 | g.27212774T>G | CA464169954 | TEK | c.2754T>G (p.Arg918=) c.2625T>G (p.Arg875=) c.2310T>G (p.Arg770=) c.*1255T>G (n.*1255T>G) c.2751T>G (p.Arg917=) c.2622T>G (p.Arg874=) | |
| 9 | g.27212775G>A | CA373123057 | TEK | c.2755G>A (p.Val919Met) c.2626G>A (p.Val876Met) c.2311G>A (p.Val771Met) c.*1256G>A (n.*1256G>A) c.2752G>A (p.Val918Met) c.2623G>A (p.Val875Met) | |
| 9 | g.27212775G>C | CA373123054 | TEK | c.2755G>C (p.Val919Leu) c.2626G>C (p.Val876Leu) c.2311G>C (p.Val771Leu) c.*1256G>C (n.*1256G>C) c.2752G>C (p.Val918Leu) c.2623G>C (p.Val875Leu) | |
| 9 | g.27212775G>T | CA373123052 | TEK | c.2755G>T (p.Val919Leu) c.2626G>T (p.Val876Leu) c.2311G>T (p.Val771Leu) c.*1256G>T (n.*1256G>T) c.2752G>T (p.Val918Leu) c.2623G>T (p.Val875Leu) | COSMIC COSMIC |
| 9 | g.27212776T>A | CA373123061 | TEK | c.2756T>A (p.Val919Glu) c.2627T>A (p.Val876Glu) c.2312T>A (p.Val771Glu) c.*1257T>A (n.*1257T>A) c.2753T>A (p.Val918Glu) c.2624T>A (p.Val875Glu) | |
| 9 | g.27212776T>C | CA373123064 | TEK | c.2756T>C (p.Val919Ala) c.2627T>C (p.Val876Ala) c.2312T>C (p.Val771Ala) c.*1257T>C (n.*1257T>C) c.2753T>C (p.Val918Ala) c.2624T>C (p.Val875Ala) | |
| 9 | g.27212776T>G | CA373123067 | TEK | c.2756T>G (p.Val919Gly) c.2627T>G (p.Val876Gly) c.2312T>G (p.Val771Gly) c.*1257T>G (n.*1257T>G) c.2753T>G (p.Val918Gly) c.2624T>G (p.Val875Gly) | |
| 9 | g.27212777G>A | CA464169956 | TEK | c.2757G>A (p.Val919=) c.2628G>A (p.Val876=) c.2313G>A (p.Val771=) c.*1258G>A (n.*1258G>A) c.2754G>A (p.Val918=) c.2625G>A (p.Val875=) | |
| 9 | g.27212777G>C | CA464169957 | TEK | c.2757G>C (p.Val919=) c.2628G>C (p.Val876=) c.2313G>C (p.Val771=) c.*1258G>C (n.*1258G>C) c.2754G>C (p.Val918=) c.2625G>C (p.Val875=) | |
| 9 | g.27212777G>T | CA464169958 | TEK | c.2757G>T (p.Val919=) c.2628G>T (p.Val876=) c.2313G>T (p.Val771=) c.*1258G>T (n.*1258G>T) c.2754G>T (p.Val918=) c.2625G>T (p.Val875=) | |
| 9 | g.27212778C>A | CA373123071 | TEK | c.2758C>A (p.Leu920Met) c.2629C>A (p.Leu877Met) c.2314C>A (p.Leu772Met) c.*1259C>A (n.*1259C>A) c.2755C>A (p.Leu919Met) c.2626C>A (p.Leu876Met) | |
| 9 | g.27212778C>G | CA373123074 | TEK | c.2758C>G (p.Leu920Val) c.2629C>G (p.Leu877Val) c.2314C>G (p.Leu772Val) c.*1259C>G (n.*1259C>G) c.2755C>G (p.Leu919Val) c.2626C>G (p.Leu876Val) | |
| 9 | g.27212778C>T | CA464169959 | TEK | c.2758C>T (p.Leu920=) c.2629C>T (p.Leu877=) c.2314C>T (p.Leu772=) c.*1259C>T (n.*1259C>T) c.2755C>T (p.Leu919=) c.2626C>T (p.Leu876=) | |
| 9 | g.27212779T>A | CA373123077 | TEK | c.2759T>A (p.Leu920Gln) c.2630T>A (p.Leu877Gln) c.2315T>A (p.Leu772Gln) c.*1260T>A (n.*1260T>A) c.2756T>A (p.Leu919Gln) c.2627T>A (p.Leu876Gln) | |
| 9 | g.27212779T>C | CA373123080 | TEK | c.2759T>C (p.Leu920Pro) c.2630T>C (p.Leu877Pro) c.2315T>C (p.Leu772Pro) c.*1260T>C (n.*1260T>C) c.2756T>C (p.Leu919Pro) c.2627T>C (p.Leu876Pro) | |
| 9 | g.27212779T>G | CA373123083 | TEK | c.2759T>G (p.Leu920Arg) c.2630T>G (p.Leu877Arg) c.2315T>G (p.Leu772Arg) c.*1260T>G (n.*1260T>G) c.2756T>G (p.Leu919Arg) c.2627T>G (p.Leu876Arg) | |
| 9 | g.27212780G>A | CA464169960 | TEK | c.2760G>A (p.Leu920=) c.2631G>A (p.Leu877=) c.2316G>A (p.Leu772=) c.*1261G>A (n.*1261G>A) c.2757G>A (p.Leu919=) c.2628G>A (p.Leu876=) | dbSNP gnomAD v2 |
| 9 | g.27212780G>C | CA464169961 | TEK | c.2760G>C (p.Leu920=) c.2631G>C (p.Leu877=) c.2316G>C (p.Leu772=) c.*1261G>C (n.*1261G>C) c.2757G>C (p.Leu919=) c.2628G>C (p.Leu876=) | |
| 9 | g.27212780G= | CA1842008672 | TEK | c.2760G= (p.Leu920=) c.2631G= (p.Leu877=) c.2316G= (p.Leu772=) c.*1261G= (n.*1261G=) c.2757G= (p.Leu919=) c.2628G= (p.Leu876=) | |
| 9 | g.27212780G>T | CA464169962 | TEK | c.2760G>T (p.Leu920=) c.2631G>T (p.Leu877=) c.2316G>T (p.Leu772=) c.*1261G>T (n.*1261G>T) c.2757G>T (p.Leu919=) c.2628G>T (p.Leu876=) | |
| 9 | g.27212781G>A | CA373123085 | TEK | c.2761G>A (p.Glu921Lys) c.2632G>A (p.Glu878Lys) c.2317G>A (p.Glu773Lys) c.*1262G>A (n.*1262G>A) c.2758G>A (p.Glu920Lys) c.2629G>A (p.Glu877Lys) | COSMIC COSMIC |
| 9 | g.27212781G>C | CA373123087 | TEK | c.2761G>C (p.Glu921Gln) c.2632G>C (p.Glu878Gln) c.2317G>C (p.Glu773Gln) c.*1262G>C (n.*1262G>C) c.2758G>C (p.Glu920Gln) c.2629G>C (p.Glu877Gln) | |
| 9 | g.27212781G>T | CA373123088 | TEK | c.2761G>T (p.Glu921Ter) c.2632G>T (p.Glu878Ter) c.2317G>T (p.Glu773Ter) c.*1262G>T (n.*1262G>T) c.2758G>T (p.Glu920Ter) c.2629G>T (p.Glu877Ter) | |
| 9 | g.27212782A>C | CA373123090 | TEK | c.2762A>C (p.Glu921Ala) c.2633A>C (p.Glu878Ala) c.2318A>C (p.Glu773Ala) c.*1263A>C (n.*1263A>C) c.2759A>C (p.Glu920Ala) c.2630A>C (p.Glu877Ala) | |
| 9 | g.27212782A>G | CA373123092 | TEK | c.2762A>G (p.Glu921Gly) c.2633A>G (p.Glu878Gly) c.2318A>G (p.Glu773Gly) c.*1263A>G (n.*1263A>G) c.2759A>G (p.Glu920Gly) c.2630A>G (p.Glu877Gly) | |
| 9 | g.27212782A>T | CA373123094 | TEK | c.2762A>T (p.Glu921Val) c.2633A>T (p.Glu878Val) c.2318A>T (p.Glu773Val) c.*1263A>T (n.*1263A>T) c.2759A>T (p.Glu920Val) c.2630A>T (p.Glu877Val) | |
| 9 | g.27212783G>A | CA464169963 | TEK | c.2763G>A (p.Glu921=) c.2634G>A (p.Glu878=) c.2319G>A (p.Glu773=) c.*1264G>A (n.*1264G>A) c.2760G>A (p.Glu920=) c.2631G>A (p.Glu877=) | gnomAD v4 |
| 9 | g.27212783G>C | CA373123096 | TEK | c.2763G>C (p.Glu921Asp) c.2634G>C (p.Glu878Asp) c.2319G>C (p.Glu773Asp) c.*1264G>C (n.*1264G>C) c.2760G>C (p.Glu920Asp) c.2631G>C (p.Glu877Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.27212783G= | CA1842008673 | TEK | c.2763G= (p.Glu921=) c.2634G= (p.Glu878=) c.2319G= (p.Glu773=) c.*1264G= (n.*1264G=) c.2760G= (p.Glu920=) c.2631G= (p.Glu877=) | |
| 9 | g.27212783G>T | CA373123098 | TEK | c.2763G>T (p.Glu921Asp) c.2634G>T (p.Glu878Asp) c.2319G>T (p.Glu773Asp) c.*1264G>T (n.*1264G>T) c.2760G>T (p.Glu920Asp) c.2631G>T (p.Glu877Asp) | gnomAD v4 |
| 9 | g.27212784A>C | CA373123101 | TEK | c.2764A>C (p.Thr922Pro) c.2635A>C (p.Thr879Pro) c.2320A>C (p.Thr774Pro) c.*1265A>C (n.*1265A>C) c.2761A>C (p.Thr921Pro) c.2632A>C (p.Thr878Pro) | |
| 9 | g.27212784A>G | CA373123103 | TEK | c.2764A>G (p.Thr922Ala) c.2635A>G (p.Thr879Ala) c.2320A>G (p.Thr774Ala) c.*1265A>G (n.*1265A>G) c.2761A>G (p.Thr921Ala) c.2632A>G (p.Thr878Ala) | |
| 9 | g.27212784A>T | CA373123105 | TEK | c.2764A>T (p.Thr922Ser) c.2635A>T (p.Thr879Ser) c.2320A>T (p.Thr774Ser) c.*1265A>T (n.*1265A>T) c.2761A>T (p.Thr921Ser) c.2632A>T (p.Thr878Ser) |