Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.139961889A>G | CA2778140908 | TBXAS1 | c.820-30A>G (n.820-30A>G) c.*609-30A>G (n.*609-30A>G) c.958-30A>G (n.958-30A>G) c.823-30A>G (n.823-30A>G) c.961-30A>G (n.961-30A>G) c.619-30A>G (n.619-30A>G) n.791-30A>G n.303-30A>G n.185-30A>G c.763-30A>G (n.763-30A>G) c.-4294966209-30A>G c.637-30A>G (n.637-30A>G) c.565-30A>G (n.565-30A>G) | |
7 | g.139961890A= | CA1747340991 | TBXAS1 | c.820-29A= (n.820-29A=) c.*609-29A= (n.*609-29A=) c.958-29A= (n.958-29A=) c.823-29A= (n.823-29A=) c.961-29A= (n.961-29A=) c.619-29A= (n.619-29A=) n.791-29A= n.303-29A= n.185-29A= c.763-29A= (n.763-29A=) c.-4294966209-29A= c.637-29A= (n.637-29A=) c.565-29A= (n.565-29A=) | |
7 | g.139961890A>C | CA578624647 | TBXAS1 | c.820-29A>C (n.820-29A>C) c.*609-29A>C (n.*609-29A>C) c.958-29A>C (n.958-29A>C) c.823-29A>C (n.823-29A>C) c.961-29A>C (n.961-29A>C) c.619-29A>C (n.619-29A>C) n.791-29A>C n.303-29A>C n.185-29A>C c.763-29A>C (n.763-29A>C) c.-4294966209-29A>C c.637-29A>C (n.637-29A>C) c.565-29A>C (n.565-29A>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961891T>C | CA2685190560 | TBXAS1 | c.820-28T>C (n.820-28T>C) c.*609-28T>C (n.*609-28T>C) c.958-28T>C (n.958-28T>C) c.823-28T>C (n.823-28T>C) c.961-28T>C (n.961-28T>C) c.619-28T>C (n.619-28T>C) n.791-28T>C n.303-28T>C n.185-28T>C c.763-28T>C (n.763-28T>C) c.-4294966209-28T>C c.637-28T>C (n.637-28T>C) c.565-28T>C (n.565-28T>C) | gnomAD v4 |
7 | g.139961892G>A | CA2685190561 | TBXAS1 | c.820-27G>A (n.820-27G>A) c.*609-27G>A (n.*609-27G>A) c.958-27G>A (n.958-27G>A) c.823-27G>A (n.823-27G>A) c.961-27G>A (n.961-27G>A) c.619-27G>A (n.619-27G>A) n.791-27G>A n.303-27G>A n.185-27G>A c.763-27G>A (n.763-27G>A) c.-4294966209-27G>A c.637-27G>A (n.637-27G>A) c.565-27G>A (n.565-27G>A) | gnomAD v4 |
7 | g.139961894G>A | CA4511825 | TBXAS1 | c.820-25G>A (n.820-25G>A) c.*609-25G>A (n.*609-25G>A) c.958-25G>A (n.958-25G>A) c.823-25G>A (n.823-25G>A) c.961-25G>A (n.961-25G>A) c.619-25G>A (n.619-25G>A) n.791-25G>A n.303-25G>A n.185-25G>A c.763-25G>A (n.763-25G>A) c.-4294966209-25G>A c.637-25G>A (n.637-25G>A) c.565-25G>A (n.565-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961894G>C | CA4511826 | TBXAS1 | c.820-25G>C (n.820-25G>C) c.*609-25G>C (n.*609-25G>C) c.958-25G>C (n.958-25G>C) c.823-25G>C (n.823-25G>C) c.961-25G>C (n.961-25G>C) c.619-25G>C (n.619-25G>C) n.791-25G>C n.303-25G>C n.185-25G>C c.763-25G>C (n.763-25G>C) c.-4294966209-25G>C c.637-25G>C (n.637-25G>C) c.565-25G>C (n.565-25G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961894G= | CA1747340992 | TBXAS1 | c.820-25G= (n.820-25G=) c.*609-25G= (n.*609-25G=) c.958-25G= (n.958-25G=) c.823-25G= (n.823-25G=) c.961-25G= (n.961-25G=) c.619-25G= (n.619-25G=) n.791-25G= n.303-25G= n.185-25G= c.763-25G= (n.763-25G=) c.-4294966209-25G= c.637-25G= (n.637-25G=) c.565-25G= (n.565-25G=) | |
7 | g.139961894G>T | CA2685190562 | TBXAS1 | c.820-25G>T (n.820-25G>T) c.*609-25G>T (n.*609-25G>T) c.958-25G>T (n.958-25G>T) c.823-25G>T (n.823-25G>T) c.961-25G>T (n.961-25G>T) c.619-25G>T (n.619-25G>T) n.791-25G>T n.303-25G>T n.185-25G>T c.763-25G>T (n.763-25G>T) c.-4294966209-25G>T c.637-25G>T (n.637-25G>T) c.565-25G>T (n.565-25G>T) | gnomAD v4 |
7 | g.139961895C>A | CA2579039955 | TBXAS1 | c.820-24C>A (n.820-24C>A) c.*609-24C>A (n.*609-24C>A) c.958-24C>A (n.958-24C>A) c.823-24C>A (n.823-24C>A) c.961-24C>A (n.961-24C>A) c.619-24C>A (n.619-24C>A) n.791-24C>A n.303-24C>A n.185-24C>A c.763-24C>A (n.763-24C>A) c.-4294966209-24C>A c.637-24C>A (n.637-24C>A) c.565-24C>A (n.565-24C>A) | gnomAD v4 |
7 | g.139961895C= | CA1747340993 | TBXAS1 | c.820-24C= (n.820-24C=) c.*609-24C= (n.*609-24C=) c.958-24C= (n.958-24C=) c.823-24C= (n.823-24C=) c.961-24C= (n.961-24C=) c.619-24C= (n.619-24C=) n.791-24C= n.303-24C= n.185-24C= c.763-24C= (n.763-24C=) c.-4294966209-24C= c.637-24C= (n.637-24C=) c.565-24C= (n.565-24C=) | |
7 | g.139961895C>T | CA4511827 | TBXAS1 | c.820-24C>T (n.820-24C>T) c.*609-24C>T (n.*609-24C>T) c.958-24C>T (n.958-24C>T) c.823-24C>T (n.823-24C>T) c.961-24C>T (n.961-24C>T) c.619-24C>T (n.619-24C>T) n.791-24C>T n.303-24C>T n.185-24C>T c.763-24C>T (n.763-24C>T) c.-4294966209-24C>T c.637-24C>T (n.637-24C>T) c.565-24C>T (n.565-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139961896A= | CA1747340994 | TBXAS1 | c.820-23A= (n.820-23A=) c.*609-23A= (n.*609-23A=) c.958-23A= (n.958-23A=) c.823-23A= (n.823-23A=) c.961-23A= (n.961-23A=) c.619-23A= (n.619-23A=) n.791-23A= n.303-23A= n.185-23A= c.763-23A= (n.763-23A=) c.-4294966209-23A= c.637-23A= (n.637-23A=) c.565-23A= (n.565-23A=) | |
7 | g.139961896A>C | CA578624648 | TBXAS1 | c.820-23A>C (n.820-23A>C) c.*609-23A>C (n.*609-23A>C) c.958-23A>C (n.958-23A>C) c.823-23A>C (n.823-23A>C) c.961-23A>C (n.961-23A>C) c.619-23A>C (n.619-23A>C) n.791-23A>C n.303-23A>C n.185-23A>C c.763-23A>C (n.763-23A>C) c.-4294966209-23A>C c.637-23A>C (n.637-23A>C) c.565-23A>C (n.565-23A>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961896A>G | CA2685190563 | TBXAS1 | c.820-23A>G (n.820-23A>G) c.*609-23A>G (n.*609-23A>G) c.958-23A>G (n.958-23A>G) c.823-23A>G (n.823-23A>G) c.961-23A>G (n.961-23A>G) c.619-23A>G (n.619-23A>G) n.791-23A>G n.303-23A>G n.185-23A>G c.763-23A>G (n.763-23A>G) c.-4294966209-23A>G c.637-23A>G (n.637-23A>G) c.565-23A>G (n.565-23A>G) | gnomAD v4 |
7 | g.139961896A>T | CA1747340995 | TBXAS1 | c.820-23A>T (n.820-23A>T) c.*609-23A>T (n.*609-23A>T) c.958-23A>T (n.958-23A>T) c.823-23A>T (n.823-23A>T) c.961-23A>T (n.961-23A>T) c.619-23A>T (n.619-23A>T) n.791-23A>T n.303-23A>T n.185-23A>T c.763-23A>T (n.763-23A>T) c.-4294966209-23A>T c.637-23A>T (n.637-23A>T) c.565-23A>T (n.565-23A>T) | dbSNP |
7 | g.139961901dup | CA2778140909 | TBXAS1 | c.820-18dup (n.820-18dup) c.*609-18dup (n.*609-18dup) c.958-18dup (n.958-18dup) c.823-18dup (n.823-18dup) c.961-18dup (n.961-18dup) c.619-18dup (n.619-18dup) n.791-18dup n.303-18dup n.185-18dup c.763-18dup (n.763-18dup) c.-4294966209-18dup c.637-18dup (n.637-18dup) c.565-18dup (n.565-18dup) | |
7 | g.139961899T>C | CA2685190564 | TBXAS1 | c.820-20T>C (n.820-20T>C) c.*609-20T>C (n.*609-20T>C) c.958-20T>C (n.958-20T>C) c.823-20T>C (n.823-20T>C) c.961-20T>C (n.961-20T>C) c.619-20T>C (n.619-20T>C) n.791-20T>C n.303-20T>C n.185-20T>C c.763-20T>C (n.763-20T>C) c.-4294966209-20T>C c.637-20T>C (n.637-20T>C) c.565-20T>C (n.565-20T>C) | gnomAD v4 |
7 | g.139961901T>C | CA578624649 | TBXAS1 | c.820-18T>C (n.820-18T>C) c.*609-18T>C (n.*609-18T>C) c.958-18T>C (n.958-18T>C) c.823-18T>C (n.823-18T>C) c.961-18T>C (n.961-18T>C) c.619-18T>C (n.619-18T>C) n.791-18T>C n.303-18T>C n.185-18T>C c.763-18T>C (n.763-18T>C) c.-4294966209-18T>C c.637-18T>C (n.637-18T>C) c.565-18T>C (n.565-18T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961901T= | CA1747340996 | TBXAS1 | c.820-18T= (n.820-18T=) c.*609-18T= (n.*609-18T=) c.958-18T= (n.958-18T=) c.823-18T= (n.823-18T=) c.961-18T= (n.961-18T=) c.619-18T= (n.619-18T=) n.791-18T= n.303-18T= n.185-18T= c.763-18T= (n.763-18T=) c.-4294966209-18T= c.637-18T= (n.637-18T=) c.565-18T= (n.565-18T=) | |
7 | g.139961902C>A | CA2685190565 | TBXAS1 | c.820-17C>A (n.820-17C>A) c.*609-17C>A (n.*609-17C>A) c.958-17C>A (n.958-17C>A) c.823-17C>A (n.823-17C>A) c.961-17C>A (n.961-17C>A) c.619-17C>A (n.619-17C>A) n.791-17C>A n.303-17C>A n.185-17C>A c.763-17C>A (n.763-17C>A) c.-4294966209-17C>A c.637-17C>A (n.637-17C>A) c.565-17C>A (n.565-17C>A) | gnomAD v4 |
7 | g.139961902C>T | CA2579039956 | TBXAS1 | c.820-17C>T (n.820-17C>T) c.*609-17C>T (n.*609-17C>T) c.958-17C>T (n.958-17C>T) c.823-17C>T (n.823-17C>T) c.961-17C>T (n.961-17C>T) c.619-17C>T (n.619-17C>T) n.791-17C>T n.303-17C>T n.185-17C>T c.763-17C>T (n.763-17C>T) c.-4294966209-17C>T c.637-17C>T (n.637-17C>T) c.565-17C>T (n.565-17C>T) | gnomAD v4 |
7 | g.139961908T>G | CA1747340998 | TBXAS1 | c.820-11T>G (n.820-11T>G) c.*609-11T>G (n.*609-11T>G) c.958-11T>G (n.958-11T>G) c.823-11T>G (n.823-11T>G) c.961-11T>G (n.961-11T>G) c.619-11T>G (n.619-11T>G) n.791-11T>G n.303-11T>G n.185-11T>G c.763-11T>G (n.763-11T>G) c.-4294966209-11T>G c.637-11T>G (n.637-11T>G) c.565-11T>G (n.565-11T>G) | dbSNP |
7 | g.139961908T= | CA1747340997 | TBXAS1 | c.820-11T= (n.820-11T=) c.*609-11T= (n.*609-11T=) c.958-11T= (n.958-11T=) c.823-11T= (n.823-11T=) c.961-11T= (n.961-11T=) c.619-11T= (n.619-11T=) n.791-11T= n.303-11T= n.185-11T= c.763-11T= (n.763-11T=) c.-4294966209-11T= c.637-11T= (n.637-11T=) c.565-11T= (n.565-11T=) | |
7 | g.139961909T>C | CA1747341000 | TBXAS1 | c.820-10T>C (n.820-10T>C) c.*609-10T>C (n.*609-10T>C) c.958-10T>C (n.958-10T>C) c.823-10T>C (n.823-10T>C) c.961-10T>C (n.961-10T>C) c.619-10T>C (n.619-10T>C) n.791-10T>C n.303-10T>C n.185-10T>C c.763-10T>C (n.763-10T>C) c.-4294966209-10T>C c.637-10T>C (n.637-10T>C) c.565-10T>C (n.565-10T>C) | dbSNP |
7 | g.139961909T= | CA1747340999 | TBXAS1 | c.820-10T= (n.820-10T=) c.*609-10T= (n.*609-10T=) c.958-10T= (n.958-10T=) c.823-10T= (n.823-10T=) c.961-10T= (n.961-10T=) c.619-10T= (n.619-10T=) n.791-10T= n.303-10T= n.185-10T= c.763-10T= (n.763-10T=) c.-4294966209-10T= c.637-10T= (n.637-10T=) c.565-10T= (n.565-10T=) | |
7 | g.139961911T>C | CA578624650 | TBXAS1 | c.820-8T>C (n.820-8T>C) c.*609-8T>C (n.*609-8T>C) c.958-8T>C (n.958-8T>C) c.823-8T>C (n.823-8T>C) c.961-8T>C (n.961-8T>C) c.619-8T>C (n.619-8T>C) n.791-8T>C n.303-8T>C n.185-8T>C c.763-8T>C (n.763-8T>C) c.-4294966209-8T>C c.637-8T>C (n.637-8T>C) c.565-8T>C (n.565-8T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961911T= | CA1747341001 | TBXAS1 | c.820-8T= (n.820-8T=) c.*609-8T= (n.*609-8T=) c.958-8T= (n.958-8T=) c.823-8T= (n.823-8T=) c.961-8T= (n.961-8T=) c.619-8T= (n.619-8T=) n.791-8T= n.303-8T= n.185-8T= c.763-8T= (n.763-8T=) c.-4294966209-8T= c.637-8T= (n.637-8T=) c.565-8T= (n.565-8T=) | |
7 | g.139961912T>G | CA2579039957 | TBXAS1 | c.820-7T>G (n.820-7T>G) c.*609-7T>G (n.*609-7T>G) c.958-7T>G (n.958-7T>G) c.823-7T>G (n.823-7T>G) c.961-7T>G (n.961-7T>G) c.619-7T>G (n.619-7T>G) n.791-7T>G n.303-7T>G n.185-7T>G c.763-7T>G (n.763-7T>G) c.-4294966209-7T>G c.637-7T>G (n.637-7T>G) c.565-7T>G (n.565-7T>G) | |
7 | g.139961913C>A | CA578624651 | TBXAS1 | c.820-6C>A (n.820-6C>A) c.*609-6C>A (n.*609-6C>A) c.958-6C>A (n.958-6C>A) c.823-6C>A (n.823-6C>A) c.961-6C>A (n.961-6C>A) c.619-6C>A (n.619-6C>A) n.791-6C>A n.303-6C>A n.185-6C>A c.763-6C>A (n.763-6C>A) c.-4294966209-6C>A c.637-6C>A (n.637-6C>A) c.565-6C>A (n.565-6C>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961913C= | CA1747341002 | TBXAS1 | c.820-6C= (n.820-6C=) c.*609-6C= (n.*609-6C=) c.958-6C= (n.958-6C=) c.823-6C= (n.823-6C=) c.961-6C= (n.961-6C=) c.619-6C= (n.619-6C=) n.791-6C= n.303-6C= n.185-6C= c.763-6C= (n.763-6C=) c.-4294966209-6C= c.637-6C= (n.637-6C=) c.565-6C= (n.565-6C=) | |
7 | g.139961913C>T | CA2605000087 | TBXAS1 | c.820-6C>T (n.820-6C>T) c.*609-6C>T (n.*609-6C>T) c.958-6C>T (n.958-6C>T) c.823-6C>T (n.823-6C>T) c.961-6C>T (n.961-6C>T) c.619-6C>T (n.619-6C>T) n.791-6C>T n.303-6C>T n.185-6C>T c.763-6C>T (n.763-6C>T) c.-4294966209-6C>T c.637-6C>T (n.637-6C>T) c.565-6C>T (n.565-6C>T) | gnomAD v3 gnomAD v4 |
7 | g.139961917A>C | CA369583805 | TBXAS1 | c.820-2A>C (n.820-2A>C) c.*609-2A>C (n.*609-2A>C) c.958-2A>C (n.958-2A>C) c.823-2A>C (n.823-2A>C) c.961-2A>C (n.961-2A>C) c.619-2A>C (n.619-2A>C) n.791-2A>C n.303-2A>C n.185-2A>C c.763-2A>C (n.763-2A>C) c.-4294966209-2A>C c.637-2A>C (n.637-2A>C) c.565-2A>C (n.565-2A>C) | |
7 | g.139961917A>G | CA369583800 | TBXAS1 | c.820-2A>G (n.820-2A>G) c.*609-2A>G (n.*609-2A>G) c.958-2A>G (n.958-2A>G) c.823-2A>G (n.823-2A>G) c.961-2A>G (n.961-2A>G) c.619-2A>G (n.619-2A>G) n.791-2A>G n.303-2A>G n.185-2A>G c.763-2A>G (n.763-2A>G) c.-4294966209-2A>G c.637-2A>G (n.637-2A>G) c.565-2A>G (n.565-2A>G) | gnomAD v4 |
7 | g.139961917A>T | CA369583803 | TBXAS1 | c.820-2A>T (n.820-2A>T) c.*609-2A>T (n.*609-2A>T) c.958-2A>T (n.958-2A>T) c.823-2A>T (n.823-2A>T) c.961-2A>T (n.961-2A>T) c.619-2A>T (n.619-2A>T) n.791-2A>T n.303-2A>T n.185-2A>T c.763-2A>T (n.763-2A>T) c.-4294966209-2A>T c.637-2A>T (n.637-2A>T) c.565-2A>T (n.565-2A>T) | |
7 | g.139961918G>A | CA369583808 | TBXAS1 | c.820-1G>A (n.820-1G>A) c.*609-1G>A (n.*609-1G>A) c.958-1G>A (n.958-1G>A) c.823-1G>A (n.823-1G>A) c.961-1G>A (n.961-1G>A) c.619-1G>A (n.619-1G>A) n.791-1G>A n.303-1G>A n.185-1G>A c.763-1G>A (n.763-1G>A) c.-4294966209-1G>A c.637-1G>A (n.637-1G>A) c.565-1G>A (n.565-1G>A) | |
7 | g.139961918G>C | CA369583811 | TBXAS1 | c.820-1G>C (n.820-1G>C) c.*609-1G>C (n.*609-1G>C) c.958-1G>C (n.958-1G>C) c.823-1G>C (n.823-1G>C) c.961-1G>C (n.961-1G>C) c.619-1G>C (n.619-1G>C) n.791-1G>C n.303-1G>C n.185-1G>C c.763-1G>C (n.763-1G>C) c.-4294966209-1G>C c.637-1G>C (n.637-1G>C) c.565-1G>C (n.565-1G>C) | gnomAD v4 |
7 | g.139961918G>T | CA369583814 | TBXAS1 | c.820-1G>T (n.820-1G>T) c.*609-1G>T (n.*609-1G>T) c.958-1G>T (n.958-1G>T) c.823-1G>T (n.823-1G>T) c.961-1G>T (n.961-1G>T) c.619-1G>T (n.619-1G>T) n.791-1G>T n.303-1G>T n.185-1G>T c.763-1G>T (n.763-1G>T) c.-4294966209-1G>T c.637-1G>T (n.637-1G>T) c.565-1G>T (n.565-1G>T) | |
7 | g.139961919A>C | CA458115303 | TBXAS1 | c.820A>C (p.Arg274=) c.*609A>C (n.*609A>C) c.958A>C (p.Arg320=) c.823A>C (p.Arg275=) c.961A>C (p.Arg321=) c.619A>C (p.Arg207=) n.791A>C n.303A>C n.185A>C c.763A>C (p.Arg255=) c.-4294966209A>C c.637A>C (p.Arg213=) c.565A>C (p.Arg189=) | |
7 | g.139961919A>G | CA369583817 | TBXAS1 | c.820A>G (p.Arg274Gly) c.*609A>G (n.*609A>G) c.958A>G (p.Arg320Gly) c.823A>G (p.Arg275Gly) c.961A>G (p.Arg321Gly) c.619A>G (p.Arg207Gly) n.791A>G n.303A>G n.185A>G c.763A>G (p.Arg255Gly) c.-4294966209A>G c.637A>G (p.Arg213Gly) c.565A>G (p.Arg189Gly) | |
7 | g.139961919A>T | CA369583819 | TBXAS1 | c.820A>T (p.Arg274Trp) c.*609A>T (n.*609A>T) c.958A>T (p.Arg320Trp) c.823A>T (p.Arg275Trp) c.961A>T (p.Arg321Trp) c.619A>T (p.Arg207Trp) n.791A>T n.303A>T n.185A>T c.763A>T (p.Arg255Trp) c.-4294966209A>T c.637A>T (p.Arg213Trp) c.565A>T (p.Arg189Trp) | |
7 | g.139961920G>A | CA369583822 | TBXAS1 | c.821G>A (p.Arg274Lys) c.*610G>A (n.*610G>A) c.959G>A (p.Arg320Lys) c.824G>A (p.Arg275Lys) c.962G>A (p.Arg321Lys) c.620G>A (p.Arg207Lys) n.792G>A n.304G>A n.186G>A c.764G>A (p.Arg255Lys) c.-4294966208G>A c.638G>A (p.Arg213Lys) c.566G>A (p.Arg189Lys) | |
7 | g.139961920G>C | CA369583824 | TBXAS1 | c.821G>C (p.Arg274Thr) c.*610G>C (n.*610G>C) c.959G>C (p.Arg320Thr) c.824G>C (p.Arg275Thr) c.962G>C (p.Arg321Thr) c.620G>C (p.Arg207Thr) n.792G>C n.304G>C n.186G>C c.764G>C (p.Arg255Thr) c.-4294966208G>C c.638G>C (p.Arg213Thr) c.566G>C (p.Arg189Thr) | |
7 | g.139961920G>T | CA369583828 | TBXAS1 | c.821G>T (p.Arg274Met) c.*610G>T (n.*610G>T) c.959G>T (p.Arg320Met) c.824G>T (p.Arg275Met) c.962G>T (p.Arg321Met) c.620G>T (p.Arg207Met) n.792G>T n.304G>T n.186G>T c.764G>T (p.Arg255Met) c.-4294966208G>T c.638G>T (p.Arg213Met) c.566G>T (p.Arg189Met) | |
7 | g.139961921G>A | CA458115304 | TBXAS1 | c.822G>A (p.Arg274=) c.*611G>A (n.*611G>A) c.960G>A (p.Arg320=) c.825G>A (p.Arg275=) c.963G>A (p.Arg321=) c.621G>A (p.Arg207=) n.793G>A n.305G>A n.187G>A c.765G>A (p.Arg255=) c.-4294966207G>A c.639G>A (p.Arg213=) c.567G>A (p.Arg189=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961921G>C | CA369583831 | TBXAS1 | c.822G>C (p.Arg274Ser) c.*611G>C (n.*611G>C) c.960G>C (p.Arg320Ser) c.825G>C (p.Arg275Ser) c.963G>C (p.Arg321Ser) c.621G>C (p.Arg207Ser) n.793G>C n.305G>C n.187G>C c.765G>C (p.Arg255Ser) c.-4294966207G>C c.639G>C (p.Arg213Ser) c.567G>C (p.Arg189Ser) | |
7 | g.139961921G= | CA1747341003 | TBXAS1 | c.822G= (p.Arg274=) c.*611G= (n.*611G=) c.960G= (p.Arg320=) c.825G= (p.Arg275=) c.963G= (p.Arg321=) c.621G= (p.Arg207=) n.793G= n.305G= n.187G= c.765G= (p.Arg255=) c.-4294966207G= c.639G= (p.Arg213=) c.567G= (p.Arg189=) | |
7 | g.139961921G>T | CA369583833 | TBXAS1 | c.822G>T (p.Arg274Ser) c.*611G>T (n.*611G>T) c.960G>T (p.Arg320Ser) c.825G>T (p.Arg275Ser) c.963G>T (p.Arg321Ser) c.621G>T (p.Arg207Ser) n.793G>T n.305G>T n.187G>T c.765G>T (p.Arg255Ser) c.-4294966207G>T c.639G>T (p.Arg213Ser) c.567G>T (p.Arg189Ser) | |
7 | g.139961922C>A | CA458115305 | TBXAS1 | c.823C>A (p.Arg275=) c.*612C>A (n.*612C>A) c.961C>A (p.Arg321=) c.826C>A (p.Arg276=) c.964C>A (p.Arg322=) c.622C>A (p.Arg208=) n.794C>A n.306C>A n.188C>A c.766C>A (p.Arg256=) c.-4294966206C>A c.640C>A (p.Arg214=) c.568C>A (p.Arg190=) | dbSNP gnomAD v4 |
7 | g.139961922C= | CA1747341004 | TBXAS1 | c.823C= (p.Arg275=) c.*612C= (n.*612C=) c.961C= (p.Arg321=) c.826C= (p.Arg276=) c.964C= (p.Arg322=) c.622C= (p.Arg208=) n.794C= n.306C= n.188C= c.766C= (p.Arg256=) c.-4294966206C= c.640C= (p.Arg214=) c.568C= (p.Arg190=) | |
7 | g.139961922C>G | CA369583837 | TBXAS1 | c.823C>G (p.Arg275Gly) c.*612C>G (n.*612C>G) c.961C>G (p.Arg321Gly) c.826C>G (p.Arg276Gly) c.964C>G (p.Arg322Gly) c.622C>G (p.Arg208Gly) n.794C>G n.306C>G n.188C>G c.766C>G (p.Arg256Gly) c.-4294966206C>G c.640C>G (p.Arg214Gly) c.568C>G (p.Arg190Gly) | |
7 | g.139961922C>T | CA4511828 | TBXAS1 | c.823C>T (p.Arg275Trp) c.*612C>T (n.*612C>T) c.961C>T (p.Arg321Trp) c.826C>T (p.Arg276Trp) c.964C>T (p.Arg322Trp) c.622C>T (p.Arg208Trp) n.794C>T n.306C>T n.188C>T c.766C>T (p.Arg256Trp) c.-4294966206C>T c.640C>T (p.Arg214Trp) c.568C>T (p.Arg190Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.139961923G>A | CA4511829 | TBXAS1 | c.824G>A (p.Arg275Gln) c.*613G>A (n.*613G>A) c.962G>A (p.Arg321Gln) c.827G>A (p.Arg276Gln) c.965G>A (p.Arg322Gln) c.623G>A (p.Arg208Gln) n.795G>A n.307G>A n.189G>A c.767G>A (p.Arg256Gln) c.-4294966205G>A c.641G>A (p.Arg214Gln) c.569G>A (p.Arg190Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961923G>C | CA369583842 | TBXAS1 | c.824G>C (p.Arg275Pro) c.*613G>C (n.*613G>C) c.962G>C (p.Arg321Pro) c.827G>C (p.Arg276Pro) c.965G>C (p.Arg322Pro) c.623G>C (p.Arg208Pro) n.795G>C n.307G>C n.189G>C c.767G>C (p.Arg256Pro) c.-4294966205G>C c.641G>C (p.Arg214Pro) c.569G>C (p.Arg190Pro) | dbSNP |
7 | g.139961923G= | CA1747341005 | TBXAS1 | c.824G= (p.Arg275=) c.*613G= (n.*613G=) c.962G= (p.Arg321=) c.827G= (p.Arg276=) c.965G= (p.Arg322=) c.623G= (p.Arg208=) n.795G= n.307G= n.189G= c.767G= (p.Arg256=) c.-4294966205G= c.641G= (p.Arg214=) c.569G= (p.Arg190=) | |
7 | g.139961923G>T | CA369583844 | TBXAS1 | c.824G>T (p.Arg275Leu) c.*613G>T (n.*613G>T) c.962G>T (p.Arg321Leu) c.827G>T (p.Arg276Leu) c.965G>T (p.Arg322Leu) c.623G>T (p.Arg208Leu) n.795G>T n.307G>T n.189G>T c.767G>T (p.Arg256Leu) c.-4294966205G>T c.641G>T (p.Arg214Leu) c.569G>T (p.Arg190Leu) | |
7 | g.139961924G>A | CA458115306 | TBXAS1 | c.825G>A (p.Arg275=) c.*614G>A (n.*614G>A) c.963G>A (p.Arg321=) c.828G>A (p.Arg276=) c.966G>A (p.Arg322=) c.624G>A (p.Arg208=) n.796G>A n.308G>A n.190G>A c.768G>A (p.Arg256=) c.-4294966204G>A c.642G>A (p.Arg214=) c.570G>A (p.Arg190=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139961924G>C | CA458115308 | TBXAS1 | c.825G>C (p.Arg275=) c.*614G>C (n.*614G>C) c.963G>C (p.Arg321=) c.828G>C (p.Arg276=) c.966G>C (p.Arg322=) c.624G>C (p.Arg208=) n.796G>C n.308G>C n.190G>C c.768G>C (p.Arg256=) c.-4294966204G>C c.642G>C (p.Arg214=) c.570G>C (p.Arg190=) | gnomAD v4 |
7 | g.139961924G= | CA1747341006 | TBXAS1 | c.825G= (p.Arg275=) c.*614G= (n.*614G=) c.963G= (p.Arg321=) c.828G= (p.Arg276=) c.966G= (p.Arg322=) c.624G= (p.Arg208=) n.796G= n.308G= n.190G= c.768G= (p.Arg256=) c.-4294966204G= c.642G= (p.Arg214=) c.570G= (p.Arg190=) | |
7 | g.139961924G>T | CA458115307 | TBXAS1 | c.825G>T (p.Arg275=) c.*614G>T (n.*614G>T) c.963G>T (p.Arg321=) c.828G>T (p.Arg276=) c.966G>T (p.Arg322=) c.624G>T (p.Arg208=) n.796G>T n.308G>T n.190G>T c.768G>T (p.Arg256=) c.-4294966204G>T c.642G>T (p.Arg214=) c.570G>T (p.Arg190=) | |
7 | g.139961925A>C | CA458115309 | TBXAS1 | c.826A>C (p.Arg276=) c.*615A>C (n.*615A>C) c.964A>C (p.Arg322=) c.829A>C (p.Arg277=) c.967A>C (p.Arg323=) c.625A>C (p.Arg209=) n.797A>C n.309A>C n.191A>C c.769A>C (p.Arg257=) c.-4294966203A>C c.643A>C (p.Arg215=) c.571A>C (p.Arg191=) | |
7 | g.139961925A>G | CA369583848 | TBXAS1 | c.826A>G (p.Arg276Gly) c.*615A>G (n.*615A>G) c.964A>G (p.Arg322Gly) c.829A>G (p.Arg277Gly) c.967A>G (p.Arg323Gly) c.625A>G (p.Arg209Gly) n.797A>G n.309A>G n.191A>G c.769A>G (p.Arg257Gly) c.-4294966203A>G c.643A>G (p.Arg215Gly) c.571A>G (p.Arg191Gly) | gnomAD v4 |
7 | g.139961925A>T | CA369583852 | TBXAS1 | c.826A>T (p.Arg276Ter) c.*615A>T (n.*615A>T) c.964A>T (p.Arg322Ter) c.829A>T (p.Arg277Ter) c.967A>T (p.Arg323Ter) c.625A>T (p.Arg209Ter) n.797A>T n.309A>T n.191A>T c.769A>T (p.Arg257Ter) c.-4294966203A>T c.643A>T (p.Arg215Ter) c.571A>T (p.Arg191Ter) | |
7 | g.139961926G>A | CA369583858 | TBXAS1 | c.827G>A (p.Arg276Lys) c.*616G>A (n.*616G>A) c.965G>A (p.Arg322Lys) c.830G>A (p.Arg277Lys) c.968G>A (p.Arg323Lys) c.626G>A (p.Arg209Lys) n.798G>A n.310G>A n.192G>A c.770G>A (p.Arg257Lys) c.-4294966202G>A c.644G>A (p.Arg215Lys) c.572G>A (p.Arg191Lys) | dbSNP gnomAD v4 |
7 | g.139961926G>C | CA369583861 | TBXAS1 | c.827G>C (p.Arg276Thr) c.*616G>C (n.*616G>C) c.965G>C (p.Arg322Thr) c.830G>C (p.Arg277Thr) c.968G>C (p.Arg323Thr) c.626G>C (p.Arg209Thr) n.798G>C n.310G>C n.192G>C c.770G>C (p.Arg257Thr) c.-4294966202G>C c.644G>C (p.Arg215Thr) c.572G>C (p.Arg191Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961926G= | CA1747341007 | TBXAS1 | c.827G= (p.Arg276=) c.*616G= (n.*616G=) c.965G= (p.Arg322=) c.830G= (p.Arg277=) c.968G= (p.Arg323=) c.626G= (p.Arg209=) n.798G= n.310G= n.192G= c.770G= (p.Arg257=) c.-4294966202G= c.644G= (p.Arg215=) c.572G= (p.Arg191=) | |
7 | g.139961926G>T | CA369583865 | TBXAS1 | c.827G>T (p.Arg276Ile) c.*616G>T (n.*616G>T) c.965G>T (p.Arg322Ile) c.830G>T (p.Arg277Ile) c.968G>T (p.Arg323Ile) c.626G>T (p.Arg209Ile) n.798G>T n.310G>T n.192G>T c.770G>T (p.Arg257Ile) c.-4294966202G>T c.644G>T (p.Arg215Ile) c.572G>T (p.Arg191Ile) | COSMIC COSMIC |
7 | g.139961927A>C | CA369583870 | TBXAS1 | c.828A>C (p.Arg276Ser) c.*617A>C (n.*617A>C) c.966A>C (p.Arg322Ser) c.831A>C (p.Arg277Ser) c.969A>C (p.Arg323Ser) c.627A>C (p.Arg209Ser) n.799A>C n.311A>C n.193A>C c.771A>C (p.Arg257Ser) c.-4294966201A>C c.645A>C (p.Arg215Ser) c.573A>C (p.Arg191Ser) | |
7 | g.139961927A>G | CA458115310 | TBXAS1 | c.828A>G (p.Arg276=) c.*617A>G (n.*617A>G) c.966A>G (p.Arg322=) c.831A>G (p.Arg277=) c.969A>G (p.Arg323=) c.627A>G (p.Arg209=) n.799A>G n.311A>G n.193A>G c.771A>G (p.Arg257=) c.-4294966201A>G c.645A>G (p.Arg215=) c.573A>G (p.Arg191=) | |
7 | g.139961927A>T | CA369583872 | TBXAS1 | c.828A>T (p.Arg276Ser) c.*617A>T (n.*617A>T) c.966A>T (p.Arg322Ser) c.831A>T (p.Arg277Ser) c.969A>T (p.Arg323Ser) c.627A>T (p.Arg209Ser) n.799A>T n.311A>T n.193A>T c.771A>T (p.Arg257Ser) c.-4294966201A>T c.645A>T (p.Arg215Ser) c.573A>T (p.Arg191Ser) | |
7 | g.139961928G>A | CA4511830 | TBXAS1 | c.829G>A (p.Asp277Asn) c.*618G>A (n.*618G>A) c.967G>A (p.Asp323Asn) c.832G>A (p.Asp278Asn) c.970G>A (p.Asp324Asn) c.628G>A (p.Asp210Asn) n.800G>A n.312G>A n.194G>A c.772G>A (p.Asp258Asn) c.-4294966200G>A c.646G>A (p.Asp216Asn) c.574G>A (p.Asp192Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139961928G>C | CA369583878 | TBXAS1 | c.829G>C (p.Asp277His) c.*618G>C (n.*618G>C) c.967G>C (p.Asp323His) c.832G>C (p.Asp278His) c.970G>C (p.Asp324His) c.628G>C (p.Asp210His) n.800G>C n.312G>C n.194G>C c.772G>C (p.Asp258His) c.-4294966200G>C c.646G>C (p.Asp216His) c.574G>C (p.Asp192His) | |
7 | g.139961928G= | CA1747341008 | TBXAS1 | c.829G= (p.Asp277=) c.*618G= (n.*618G=) c.967G= (p.Asp323=) c.832G= (p.Asp278=) c.970G= (p.Asp324=) c.628G= (p.Asp210=) n.800G= n.312G= n.194G= c.772G= (p.Asp258=) c.-4294966200G= c.646G= (p.Asp216=) c.574G= (p.Asp192=) | |
7 | g.139961928G>T | CA369583882 | TBXAS1 | c.829G>T (p.Asp277Tyr) c.*618G>T (n.*618G>T) c.967G>T (p.Asp323Tyr) c.832G>T (p.Asp278Tyr) c.970G>T (p.Asp324Tyr) c.628G>T (p.Asp210Tyr) n.800G>T n.312G>T n.194G>T c.772G>T (p.Asp258Tyr) c.-4294966200G>T c.646G>T (p.Asp216Tyr) c.574G>T (p.Asp192Tyr) | |
7 | g.139961929A>C | CA369583889 | TBXAS1 | c.830A>C (p.Asp277Ala) c.*619A>C (n.*619A>C) c.968A>C (p.Asp323Ala) c.833A>C (p.Asp278Ala) c.971A>C (p.Asp324Ala) c.629A>C (p.Asp210Ala) n.801A>C n.313A>C n.195A>C c.773A>C (p.Asp258Ala) c.-4294966199A>C c.647A>C (p.Asp216Ala) c.575A>C (p.Asp192Ala) | |
7 | g.139961929A>G | CA369583894 | TBXAS1 | c.830A>G (p.Asp277Gly) c.*619A>G (n.*619A>G) c.968A>G (p.Asp323Gly) c.833A>G (p.Asp278Gly) c.971A>G (p.Asp324Gly) c.629A>G (p.Asp210Gly) n.801A>G n.313A>G n.195A>G c.773A>G (p.Asp258Gly) c.-4294966199A>G c.647A>G (p.Asp216Gly) c.575A>G (p.Asp192Gly) | gnomAD v4 |
7 | g.139961929A>T | CA369583887 | TBXAS1 | c.830A>T (p.Asp277Val) c.*619A>T (n.*619A>T) c.968A>T (p.Asp323Val) c.833A>T (p.Asp278Val) c.971A>T (p.Asp324Val) c.629A>T (p.Asp210Val) n.801A>T n.313A>T n.195A>T c.773A>T (p.Asp258Val) c.-4294966199A>T c.647A>T (p.Asp216Val) c.575A>T (p.Asp192Val) | |
7 | g.139961930C>A | CA369583897 | TBXAS1 | c.831C>A (p.Asp277Glu) c.*620C>A (n.*620C>A) c.969C>A (p.Asp323Glu) c.834C>A (p.Asp278Glu) c.972C>A (p.Asp324Glu) c.630C>A (p.Asp210Glu) n.802C>A n.314C>A n.196C>A c.774C>A (p.Asp258Glu) c.-4294966198C>A c.648C>A (p.Asp216Glu) c.576C>A (p.Asp192Glu) | dbSNP |
7 | g.139961930C= | CA1747341009 | TBXAS1 | c.831C= (p.Asp277=) c.*620C= (n.*620C=) c.969C= (p.Asp323=) c.834C= (p.Asp278=) c.972C= (p.Asp324=) c.630C= (p.Asp210=) n.802C= n.314C= n.196C= c.774C= (p.Asp258=) c.-4294966198C= c.648C= (p.Asp216=) c.576C= (p.Asp192=) | |
7 | g.139961930C>G | CA369583901 | TBXAS1 | c.831C>G (p.Asp277Glu) c.*620C>G (n.*620C>G) c.969C>G (p.Asp323Glu) c.834C>G (p.Asp278Glu) c.972C>G (p.Asp324Glu) c.630C>G (p.Asp210Glu) n.802C>G n.314C>G n.196C>G c.774C>G (p.Asp258Glu) c.-4294966198C>G c.648C>G (p.Asp216Glu) c.576C>G (p.Asp192Glu) | |
7 | g.139961930C>T | CA458115315 | TBXAS1 | c.831C>T (p.Asp277=) c.*620C>T (n.*620C>T) c.969C>T (p.Asp323=) c.834C>T (p.Asp278=) c.972C>T (p.Asp324=) c.630C>T (p.Asp210=) n.802C>T n.314C>T n.196C>T c.774C>T (p.Asp258=) c.-4294966198C>T c.648C>T (p.Asp216=) c.576C>T (p.Asp192=) | |
7 | g.139961931T>A | CA369583905 | TBXAS1 | c.832T>A (p.Phe278Ile) c.*621T>A (n.*621T>A) c.970T>A (p.Phe324Ile) c.835T>A (p.Phe279Ile) c.973T>A (p.Phe325Ile) c.631T>A (p.Phe211Ile) n.803T>A n.315T>A n.197T>A c.775T>A (p.Phe259Ile) c.-4294966197T>A c.649T>A (p.Phe217Ile) c.577T>A (p.Phe193Ile) | |
7 | g.139961931T>C | CA369583907 | TBXAS1 | c.832T>C (p.Phe278Leu) c.*621T>C (n.*621T>C) c.970T>C (p.Phe324Leu) c.835T>C (p.Phe279Leu) c.973T>C (p.Phe325Leu) c.631T>C (p.Phe211Leu) n.803T>C n.315T>C n.197T>C c.775T>C (p.Phe259Leu) c.-4294966197T>C c.649T>C (p.Phe217Leu) c.577T>C (p.Phe193Leu) | |
7 | g.139961931T>G | CA369583918 | TBXAS1 | c.832T>G (p.Phe278Val) c.*621T>G (n.*621T>G) c.970T>G (p.Phe324Val) c.835T>G (p.Phe279Val) c.973T>G (p.Phe325Val) c.631T>G (p.Phe211Val) n.803T>G n.315T>G n.197T>G c.775T>G (p.Phe259Val) c.-4294966197T>G c.649T>G (p.Phe217Val) c.577T>G (p.Phe193Val) | |
7 | g.139961932T>A | CA369583923 | TBXAS1 | c.833T>A (p.Phe278Tyr) c.*622T>A (n.*622T>A) c.971T>A (p.Phe324Tyr) c.836T>A (p.Phe279Tyr) c.974T>A (p.Phe325Tyr) c.632T>A (p.Phe211Tyr) n.804T>A n.316T>A n.198T>A c.776T>A (p.Phe259Tyr) c.-4294966196T>A c.650T>A (p.Phe217Tyr) c.578T>A (p.Phe193Tyr) | |
7 | g.139961932T>C | CA369583925 | TBXAS1 | c.833T>C (p.Phe278Ser) c.*622T>C (n.*622T>C) c.971T>C (p.Phe324Ser) c.836T>C (p.Phe279Ser) c.974T>C (p.Phe325Ser) c.632T>C (p.Phe211Ser) n.804T>C n.316T>C n.198T>C c.776T>C (p.Phe259Ser) c.-4294966196T>C c.650T>C (p.Phe217Ser) c.578T>C (p.Phe193Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139961932T>G | CA369583927 | TBXAS1 | c.833T>G (p.Phe278Cys) c.*622T>G (n.*622T>G) c.971T>G (p.Phe324Cys) c.836T>G (p.Phe279Cys) c.974T>G (p.Phe325Cys) c.632T>G (p.Phe211Cys) n.804T>G n.316T>G n.198T>G c.776T>G (p.Phe259Cys) c.-4294966196T>G c.650T>G (p.Phe217Cys) c.578T>G (p.Phe193Cys) | |
7 | g.139961932T= | CA1747341010 | TBXAS1 | c.833T= (p.Phe278=) c.*622T= (n.*622T=) c.971T= (p.Phe324=) c.836T= (p.Phe279=) c.974T= (p.Phe325=) c.632T= (p.Phe211=) n.804T= n.316T= n.198T= c.776T= (p.Phe259=) c.-4294966196T= c.650T= (p.Phe217=) c.578T= (p.Phe193=) | |
7 | g.139961933C>A | CA369583930 | TBXAS1 | c.834C>A (p.Phe278Leu) c.*623C>A (n.*623C>A) c.972C>A (p.Phe324Leu) c.837C>A (p.Phe279Leu) c.975C>A (p.Phe325Leu) c.633C>A (p.Phe211Leu) n.805C>A n.317C>A n.199C>A c.777C>A (p.Phe259Leu) c.-4294966195C>A c.651C>A (p.Phe217Leu) c.579C>A (p.Phe193Leu) | |
7 | g.139961933C>G | CA369583931 | TBXAS1 | c.834C>G (p.Phe278Leu) c.*623C>G (n.*623C>G) c.972C>G (p.Phe324Leu) c.837C>G (p.Phe279Leu) c.975C>G (p.Phe325Leu) c.633C>G (p.Phe211Leu) n.805C>G n.317C>G n.199C>G c.777C>G (p.Phe259Leu) c.-4294966195C>G c.651C>G (p.Phe217Leu) c.579C>G (p.Phe193Leu) | |
7 | g.139961933C>T | CA458115317 | TBXAS1 | c.834C>T (p.Phe278=) c.*623C>T (n.*623C>T) c.972C>T (p.Phe324=) c.837C>T (p.Phe279=) c.975C>T (p.Phe325=) c.633C>T (p.Phe211=) n.805C>T n.317C>T n.199C>T c.777C>T (p.Phe259=) c.-4294966195C>T c.651C>T (p.Phe217=) c.579C>T (p.Phe193=) | COSMIC COSMIC |
7 | g.139961934C>A | CA369583934 | TBXAS1 | c.835C>A (p.Leu279Ile) c.*624C>A (n.*624C>A) c.973C>A (p.Leu325Ile) c.838C>A (p.Leu280Ile) c.976C>A (p.Leu326Ile) c.634C>A (p.Leu212Ile) n.806C>A n.318C>A n.200C>A c.778C>A (p.Leu260Ile) c.-4294966194C>A c.652C>A (p.Leu218Ile) c.580C>A (p.Leu194Ile) | |
7 | g.139961934C>G | CA369583936 | TBXAS1 | c.835C>G (p.Leu279Val) c.*624C>G (n.*624C>G) c.973C>G (p.Leu325Val) c.838C>G (p.Leu280Val) c.976C>G (p.Leu326Val) c.634C>G (p.Leu212Val) n.806C>G n.318C>G n.200C>G c.778C>G (p.Leu260Val) c.-4294966194C>G c.652C>G (p.Leu218Val) c.580C>G (p.Leu194Val) | |
7 | g.139961934C>T | CA369583938 | TBXAS1 | c.835C>T (p.Leu279Phe) c.*624C>T (n.*624C>T) c.973C>T (p.Leu325Phe) c.838C>T (p.Leu280Phe) c.976C>T (p.Leu326Phe) c.634C>T (p.Leu212Phe) n.806C>T n.318C>T n.200C>T c.778C>T (p.Leu260Phe) c.-4294966194C>T c.652C>T (p.Leu218Phe) c.580C>T (p.Leu194Phe) | |
7 | g.139961935T>A | CA369583944 | TBXAS1 | c.836T>A (p.Leu279His) c.*625T>A (n.*625T>A) c.974T>A (p.Leu325His) c.839T>A (p.Leu280His) c.977T>A (p.Leu326His) c.635T>A (p.Leu212His) n.807T>A n.319T>A n.201T>A c.779T>A (p.Leu260His) c.-4294966193T>A c.653T>A (p.Leu218His) c.581T>A (p.Leu194His) | |
7 | g.139961935T>C | CA369583943 | TBXAS1 | c.836T>C (p.Leu279Pro) c.*625T>C (n.*625T>C) c.974T>C (p.Leu325Pro) c.839T>C (p.Leu280Pro) c.977T>C (p.Leu326Pro) c.635T>C (p.Leu212Pro) n.807T>C n.319T>C n.201T>C c.779T>C (p.Leu260Pro) c.-4294966193T>C c.653T>C (p.Leu218Pro) c.581T>C (p.Leu194Pro) | |
7 | g.139961935T>G | CA369583940 | TBXAS1 | c.836T>G (p.Leu279Arg) c.*625T>G (n.*625T>G) c.974T>G (p.Leu325Arg) c.839T>G (p.Leu280Arg) c.977T>G (p.Leu326Arg) c.635T>G (p.Leu212Arg) n.807T>G n.319T>G n.201T>G c.779T>G (p.Leu260Arg) c.-4294966193T>G c.653T>G (p.Leu218Arg) c.581T>G (p.Leu194Arg) | |
7 | g.139961936C>A | CA458115318 | TBXAS1 | c.837C>A (p.Leu279=) c.*626C>A (n.*626C>A) c.975C>A (p.Leu325=) c.840C>A (p.Leu280=) c.978C>A (p.Leu326=) c.636C>A (p.Leu212=) n.808C>A n.320C>A n.202C>A c.780C>A (p.Leu260=) c.-4294966192C>A c.654C>A (p.Leu218=) c.582C>A (p.Leu194=) | |
7 | g.139961936C= | CA1747341011 | TBXAS1 | c.837C= (p.Leu279=) c.*626C= (n.*626C=) c.975C= (p.Leu325=) c.840C= (p.Leu280=) c.978C= (p.Leu326=) c.636C= (p.Leu212=) n.808C= n.320C= n.202C= c.780C= (p.Leu260=) c.-4294966192C= c.654C= (p.Leu218=) c.582C= (p.Leu194=) | |
7 | g.139961936C>G | CA458115319 | TBXAS1 | c.837C>G (p.Leu279=) c.*626C>G (n.*626C>G) c.975C>G (p.Leu325=) c.840C>G (p.Leu280=) c.978C>G (p.Leu326=) c.636C>G (p.Leu212=) n.808C>G n.320C>G n.202C>G c.780C>G (p.Leu260=) c.-4294966192C>G c.654C>G (p.Leu218=) c.582C>G (p.Leu194=) | |
7 | g.139961936C>T | CA458115320 | TBXAS1 | c.837C>T (p.Leu279=) c.*626C>T (n.*626C>T) c.975C>T (p.Leu325=) c.840C>T (p.Leu280=) c.978C>T (p.Leu326=) c.636C>T (p.Leu212=) n.808C>T n.320C>T n.202C>T c.780C>T (p.Leu260=) c.-4294966192C>T c.654C>T (p.Leu218=) c.582C>T (p.Leu194=) | dbSNP |
7 | g.139961937C>A | CA369583946 | TBXAS1 | c.838C>A (p.Gln280Lys) c.*627C>A (n.*627C>A) c.976C>A (p.Gln326Lys) c.841C>A (p.Gln281Lys) c.979C>A (p.Gln327Lys) c.637C>A (p.Gln213Lys) n.809C>A n.321C>A n.203C>A c.781C>A (p.Gln261Lys) c.-4294966191C>A c.655C>A (p.Gln219Lys) c.583C>A (p.Gln195Lys) | |
7 | g.139961937C>G | CA369583948 | TBXAS1 | c.838C>G (p.Gln280Glu) c.*627C>G (n.*627C>G) c.976C>G (p.Gln326Glu) c.841C>G (p.Gln281Glu) c.979C>G (p.Gln327Glu) c.637C>G (p.Gln213Glu) n.809C>G n.321C>G n.203C>G c.781C>G (p.Gln261Glu) c.-4294966191C>G c.655C>G (p.Gln219Glu) c.583C>G (p.Gln195Glu) | |
7 | g.139961937C>T | CA369583949 | TBXAS1 | c.838C>T (p.Gln280Ter) c.*627C>T (n.*627C>T) c.976C>T (p.Gln326Ter) c.841C>T (p.Gln281Ter) c.979C>T (p.Gln327Ter) c.637C>T (p.Gln213Ter) n.809C>T n.321C>T n.203C>T c.781C>T (p.Gln261Ter) c.-4294966191C>T c.655C>T (p.Gln219Ter) c.583C>T (p.Gln195Ter) | |
7 | g.139961938A>C | CA369583951 | TBXAS1 | c.839A>C (p.Gln280Pro) c.*628A>C (n.*628A>C) c.977A>C (p.Gln326Pro) c.842A>C (p.Gln281Pro) c.980A>C (p.Gln327Pro) c.638A>C (p.Gln213Pro) n.810A>C n.322A>C n.204A>C c.782A>C (p.Gln261Pro) c.-4294966190A>C c.656A>C (p.Gln219Pro) c.584A>C (p.Gln195Pro) | |
7 | g.139961938A>G | CA369583953 | TBXAS1 | c.839A>G (p.Gln280Arg) c.*628A>G (n.*628A>G) c.977A>G (p.Gln326Arg) c.842A>G (p.Gln281Arg) c.980A>G (p.Gln327Arg) c.638A>G (p.Gln213Arg) n.810A>G n.322A>G n.204A>G c.782A>G (p.Gln261Arg) c.-4294966190A>G c.656A>G (p.Gln219Arg) c.584A>G (p.Gln195Arg) | |
7 | g.139961938A>T | CA369583954 | TBXAS1 | c.839A>T (p.Gln280Leu) c.*628A>T (n.*628A>T) c.977A>T (p.Gln326Leu) c.842A>T (p.Gln281Leu) c.980A>T (p.Gln327Leu) c.638A>T (p.Gln213Leu) n.810A>T n.322A>T n.204A>T c.782A>T (p.Gln261Leu) c.-4294966190A>T c.656A>T (p.Gln219Leu) c.584A>T (p.Gln195Leu) | |
7 | g.139961939A= | CA1747341012 | TBXAS1 | c.840A= (p.Gln280=) c.*629A= (n.*629A=) c.978A= (p.Gln326=) c.843A= (p.Gln281=) c.981A= (p.Gln327=) c.639A= (p.Gln213=) n.811A= n.323A= n.205A= c.783A= (p.Gln261=) c.-4294966189A= c.657A= (p.Gln219=) c.585A= (p.Gln195=) | |
7 | g.139961939A>C | CA369583957 | TBXAS1 | c.840A>C (p.Gln280His) c.*629A>C (n.*629A>C) c.978A>C (p.Gln326His) c.843A>C (p.Gln281His) c.981A>C (p.Gln327His) c.639A>C (p.Gln213His) n.811A>C n.323A>C n.205A>C c.783A>C (p.Gln261His) c.-4294966189A>C c.657A>C (p.Gln219His) c.585A>C (p.Gln195His) | |
7 | g.139961939A>G | CA458115321 | TBXAS1 | c.840A>G (p.Gln280=) c.*629A>G (n.*629A>G) c.978A>G (p.Gln326=) c.843A>G (p.Gln281=) c.981A>G (p.Gln327=) c.639A>G (p.Gln213=) n.811A>G n.323A>G n.205A>G c.783A>G (p.Gln261=) c.-4294966189A>G c.657A>G (p.Gln219=) c.585A>G (p.Gln195=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961939A>T | CA369583959 | TBXAS1 | c.840A>T (p.Gln280His) c.*629A>T (n.*629A>T) c.978A>T (p.Gln326His) c.843A>T (p.Gln281His) c.981A>T (p.Gln327His) c.639A>T (p.Gln213His) n.811A>T n.323A>T n.205A>T c.783A>T (p.Gln261His) c.-4294966189A>T c.657A>T (p.Gln219His) c.585A>T (p.Gln195His) | |
7 | g.139961940A= | CA1747341013 | TBXAS1 | c.841A= (p.Met281=) c.*630A= (n.*630A=) c.979A= (p.Met327=) c.844A= (p.Met282=) c.982A= (p.Met328=) c.640A= (p.Met214=) n.812A= n.324A= n.206A= c.784A= (p.Met262=) c.-4294966188A= c.658A= (p.Met220=) c.586A= (p.Met196=) | |
7 | g.139961940A>C | CA369583961 | TBXAS1 | c.841A>C (p.Met281Leu) c.*630A>C (n.*630A>C) c.979A>C (p.Met327Leu) c.844A>C (p.Met282Leu) c.982A>C (p.Met328Leu) c.640A>C (p.Met214Leu) n.812A>C n.324A>C n.206A>C c.784A>C (p.Met262Leu) c.-4294966188A>C c.658A>C (p.Met220Leu) c.586A>C (p.Met196Leu) | |
7 | g.139961940A>G | CA369583963 | TBXAS1 | c.841A>G (p.Met281Val) c.*630A>G (n.*630A>G) c.979A>G (p.Met327Val) c.844A>G (p.Met282Val) c.982A>G (p.Met328Val) c.640A>G (p.Met214Val) n.812A>G n.324A>G n.206A>G c.784A>G (p.Met262Val) c.-4294966188A>G c.658A>G (p.Met220Val) c.586A>G (p.Met196Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961940A>T | CA369583964 | TBXAS1 | c.841A>T (p.Met281Leu) c.*630A>T (n.*630A>T) c.979A>T (p.Met327Leu) c.844A>T (p.Met282Leu) c.982A>T (p.Met328Leu) c.640A>T (p.Met214Leu) n.812A>T n.324A>T n.206A>T c.784A>T (p.Met262Leu) c.-4294966188A>T c.658A>T (p.Met220Leu) c.586A>T (p.Met196Leu) | |
7 | g.139961941T>A | CA369583966 | TBXAS1 | c.842T>A (p.Met281Lys) c.*631T>A (n.*631T>A) c.980T>A (p.Met327Lys) c.845T>A (p.Met282Lys) c.983T>A (p.Met328Lys) c.641T>A (p.Met214Lys) n.813T>A n.325T>A n.207T>A c.785T>A (p.Met262Lys) c.-4294966187T>A c.659T>A (p.Met220Lys) c.587T>A (p.Met196Lys) | |
7 | g.139961941T>C | CA369583968 | TBXAS1 | c.842T>C (p.Met281Thr) c.*631T>C (n.*631T>C) c.980T>C (p.Met327Thr) c.845T>C (p.Met282Thr) c.983T>C (p.Met328Thr) c.641T>C (p.Met214Thr) n.813T>C n.325T>C n.207T>C c.785T>C (p.Met262Thr) c.-4294966187T>C c.659T>C (p.Met220Thr) c.587T>C (p.Met196Thr) | COSMIC COSMIC |
7 | g.139961941T>G | CA369583971 | TBXAS1 | c.842T>G (p.Met281Arg) c.*631T>G (n.*631T>G) c.980T>G (p.Met327Arg) c.845T>G (p.Met282Arg) c.983T>G (p.Met328Arg) c.641T>G (p.Met214Arg) n.813T>G n.325T>G n.207T>G c.785T>G (p.Met262Arg) c.-4294966187T>G c.659T>G (p.Met220Arg) c.587T>G (p.Met196Arg) | |
7 | g.139961942G>A | CA369583975 | TBXAS1 | c.843G>A (p.Met281Ile) c.*632G>A (n.*632G>A) c.981G>A (p.Met327Ile) c.846G>A (p.Met282Ile) c.984G>A (p.Met328Ile) c.642G>A (p.Met214Ile) n.814G>A n.326G>A n.208G>A c.786G>A (p.Met262Ile) c.-4294966186G>A c.660G>A (p.Met220Ile) c.588G>A (p.Met196Ile) | |
7 | g.139961942G>C | CA369583977 | TBXAS1 | c.843G>C (p.Met281Ile) c.*632G>C (n.*632G>C) c.981G>C (p.Met327Ile) c.846G>C (p.Met282Ile) c.984G>C (p.Met328Ile) c.642G>C (p.Met214Ile) n.814G>C n.326G>C n.208G>C c.786G>C (p.Met262Ile) c.-4294966186G>C c.660G>C (p.Met220Ile) c.588G>C (p.Met196Ile) | |
7 | g.139961942G= | CA1747341014 | TBXAS1 | c.843G= (p.Met281=) c.*632G= (n.*632G=) c.981G= (p.Met327=) c.846G= (p.Met282=) c.984G= (p.Met328=) c.642G= (p.Met214=) n.814G= n.326G= n.208G= c.786G= (p.Met262=) c.-4294966186G= c.660G= (p.Met220=) c.588G= (p.Met196=) | |
7 | g.139961942G>T | CA369583973 | TBXAS1 | c.843G>T (p.Met281Ile) c.*632G>T (n.*632G>T) c.981G>T (p.Met327Ile) c.846G>T (p.Met282Ile) c.984G>T (p.Met328Ile) c.642G>T (p.Met214Ile) n.814G>T n.326G>T n.208G>T c.786G>T (p.Met262Ile) c.-4294966186G>T c.660G>T (p.Met220Ile) c.588G>T (p.Met196Ile) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961943G>A | CA369583979 | TBXAS1 | c.844G>A (p.Val282Ile) c.*633G>A (n.*633G>A) c.982G>A (p.Val328Ile) c.847G>A (p.Val283Ile) c.985G>A (p.Val329Ile) c.643G>A (p.Val215Ile) n.815G>A n.327G>A n.209G>A c.787G>A (p.Val263Ile) c.-4294966185G>A c.661G>A (p.Val221Ile) c.589G>A (p.Val197Ile) | |
7 | g.139961943G>C | CA167953439 | TBXAS1 | c.844G>C (p.Val282Leu) c.*633G>C (n.*633G>C) c.982G>C (p.Val328Leu) c.847G>C (p.Val283Leu) c.985G>C (p.Val329Leu) c.643G>C (p.Val215Leu) n.815G>C n.327G>C n.209G>C c.787G>C (p.Val263Leu) c.-4294966185G>C c.661G>C (p.Val221Leu) c.589G>C (p.Val197Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961943G= | CA1747341015 | TBXAS1 | c.844G= (p.Val282=) c.*633G= (n.*633G=) c.982G= (p.Val328=) c.847G= (p.Val283=) c.985G= (p.Val329=) c.643G= (p.Val215=) n.815G= n.327G= n.209G= c.787G= (p.Val263=) c.-4294966185G= c.661G= (p.Val221=) c.589G= (p.Val197=) | |
7 | g.139961943G>T | CA369583982 | TBXAS1 | c.844G>T (p.Val282Phe) c.*633G>T (n.*633G>T) c.982G>T (p.Val328Phe) c.847G>T (p.Val283Phe) c.985G>T (p.Val329Phe) c.643G>T (p.Val215Phe) n.815G>T n.327G>T n.209G>T c.787G>T (p.Val263Phe) c.-4294966185G>T c.661G>T (p.Val221Phe) c.589G>T (p.Val197Phe) | |
7 | g.139961944T>A | CA369583985 | TBXAS1 | c.845T>A (p.Val282Asp) c.*634T>A (n.*634T>A) c.983T>A (p.Val328Asp) c.848T>A (p.Val283Asp) c.986T>A (p.Val329Asp) c.644T>A (p.Val215Asp) n.816T>A n.328T>A n.210T>A c.788T>A (p.Val263Asp) c.-4294966184T>A c.662T>A (p.Val221Asp) c.590T>A (p.Val197Asp) | |
7 | g.139961944T>C | CA369583986 | TBXAS1 | c.845T>C (p.Val282Ala) c.*634T>C (n.*634T>C) c.983T>C (p.Val328Ala) c.848T>C (p.Val283Ala) c.986T>C (p.Val329Ala) c.644T>C (p.Val215Ala) n.816T>C n.328T>C n.210T>C c.788T>C (p.Val263Ala) c.-4294966184T>C c.662T>C (p.Val221Ala) c.590T>C (p.Val197Ala) | gnomAD v4 |
7 | g.139961944T>G | CA369583988 | TBXAS1 | c.845T>G (p.Val282Gly) c.*634T>G (n.*634T>G) c.983T>G (p.Val328Gly) c.848T>G (p.Val283Gly) c.986T>G (p.Val329Gly) c.644T>G (p.Val215Gly) n.816T>G n.328T>G n.210T>G c.788T>G (p.Val263Gly) c.-4294966184T>G c.662T>G (p.Val221Gly) c.590T>G (p.Val197Gly) | |
7 | g.139961945C>A | CA458115326 | TBXAS1 | c.846C>A (p.Val282=) c.*635C>A (n.*635C>A) c.984C>A (p.Val328=) c.849C>A (p.Val283=) c.987C>A (p.Val329=) c.645C>A (p.Val215=) n.817C>A n.329C>A n.211C>A c.789C>A (p.Val263=) c.-4294966183C>A c.663C>A (p.Val221=) c.591C>A (p.Val197=) | |
7 | g.139961945C>G | CA458115327 | TBXAS1 | c.846C>G (p.Val282=) c.*635C>G (n.*635C>G) c.984C>G (p.Val328=) c.849C>G (p.Val283=) c.987C>G (p.Val329=) c.645C>G (p.Val215=) n.817C>G n.329C>G n.211C>G c.789C>G (p.Val263=) c.-4294966183C>G c.663C>G (p.Val221=) c.591C>G (p.Val197=) | |
7 | g.139961945C>T | CA458115328 | TBXAS1 | c.846C>T (p.Val282=) c.*635C>T (n.*635C>T) c.984C>T (p.Val328=) c.849C>T (p.Val283=) c.987C>T (p.Val329=) c.645C>T (p.Val215=) n.817C>T n.329C>T n.211C>T c.789C>T (p.Val263=) c.-4294966183C>T c.663C>T (p.Val221=) c.591C>T (p.Val197=) | |
7 | g.139961946C>A | CA369583992 | TBXAS1 | c.847C>A (p.Leu283Met) c.*636C>A (n.*636C>A) c.985C>A (p.Leu329Met) c.850C>A (p.Leu284Met) c.988C>A (p.Leu330Met) c.646C>A (p.Leu216Met) n.818C>A n.330C>A n.212C>A c.790C>A (p.Leu264Met) c.-4294966182C>A c.664C>A (p.Leu222Met) c.592C>A (p.Leu198Met) | |
7 | g.139961946C>G | CA369583990 | TBXAS1 | c.847C>G (p.Leu283Val) c.*636C>G (n.*636C>G) c.985C>G (p.Leu329Val) c.850C>G (p.Leu284Val) c.988C>G (p.Leu330Val) c.646C>G (p.Leu216Val) n.818C>G n.330C>G n.212C>G c.790C>G (p.Leu264Val) c.-4294966182C>G c.664C>G (p.Leu222Val) c.592C>G (p.Leu198Val) | |
7 | g.139961946C>T | CA458115330 | TBXAS1 | c.847C>T (p.Leu283=) c.*636C>T (n.*636C>T) c.985C>T (p.Leu329=) c.850C>T (p.Leu284=) c.988C>T (p.Leu330=) c.646C>T (p.Leu216=) n.818C>T n.330C>T n.212C>T c.790C>T (p.Leu264=) c.-4294966182C>T c.664C>T (p.Leu222=) c.592C>T (p.Leu198=) | |
7 | g.139961947T>A | CA369583994 | TBXAS1 | c.848T>A (p.Leu283Gln) c.*637T>A (n.*637T>A) c.986T>A (p.Leu329Gln) c.851T>A (p.Leu284Gln) c.989T>A (p.Leu330Gln) c.647T>A (p.Leu216Gln) n.819T>A n.331T>A n.213T>A c.791T>A (p.Leu264Gln) c.-4294966181T>A c.665T>A (p.Leu222Gln) c.593T>A (p.Leu198Gln) | |
7 | g.139961947T>C | CA167953440 | TBXAS1 | c.848T>C (p.Leu283Pro) c.*637T>C (n.*637T>C) c.986T>C (p.Leu329Pro) c.851T>C (p.Leu284Pro) c.989T>C (p.Leu330Pro) c.647T>C (p.Leu216Pro) n.819T>C n.331T>C n.213T>C c.791T>C (p.Leu264Pro) c.-4294966181T>C c.665T>C (p.Leu222Pro) c.593T>C (p.Leu198Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961947T>G | CA369583997 | TBXAS1 | c.848T>G (p.Leu283Arg) c.*637T>G (n.*637T>G) c.986T>G (p.Leu329Arg) c.851T>G (p.Leu284Arg) c.989T>G (p.Leu330Arg) c.647T>G (p.Leu216Arg) n.819T>G n.331T>G n.213T>G c.791T>G (p.Leu264Arg) c.-4294966181T>G c.665T>G (p.Leu222Arg) c.593T>G (p.Leu198Arg) | gnomAD v4 |
7 | g.139961947T= | CA1747341016 | TBXAS1 | c.848T= (p.Leu283=) c.*637T= (n.*637T=) c.986T= (p.Leu329=) c.851T= (p.Leu284=) c.989T= (p.Leu330=) c.647T= (p.Leu216=) n.819T= n.331T= n.213T= c.791T= (p.Leu264=) c.-4294966181T= c.665T= (p.Leu222=) c.593T= (p.Leu198=) | |
7 | g.139961948G>A | CA458115331 | TBXAS1 | c.849G>A (p.Leu283=) c.*638G>A (n.*638G>A) c.987G>A (p.Leu329=) c.852G>A (p.Leu284=) c.990G>A (p.Leu330=) c.648G>A (p.Leu216=) n.820G>A n.332G>A n.214G>A c.792G>A (p.Leu264=) c.-4294966180G>A c.666G>A (p.Leu222=) c.594G>A (p.Leu198=) | |
7 | g.139961948G>C | CA458115332 | TBXAS1 | c.849G>C (p.Leu283=) c.*638G>C (n.*638G>C) c.987G>C (p.Leu329=) c.852G>C (p.Leu284=) c.990G>C (p.Leu330=) c.648G>C (p.Leu216=) n.820G>C n.332G>C n.214G>C c.792G>C (p.Leu264=) c.-4294966180G>C c.666G>C (p.Leu222=) c.594G>C (p.Leu198=) | |
7 | g.139961948G>T | CA458115333 | TBXAS1 | c.849G>T (p.Leu283=) c.*638G>T (n.*638G>T) c.987G>T (p.Leu329=) c.852G>T (p.Leu284=) c.990G>T (p.Leu330=) c.648G>T (p.Leu216=) n.820G>T n.332G>T n.214G>T c.792G>T (p.Leu264=) c.-4294966180G>T c.666G>T (p.Leu222=) c.594G>T (p.Leu198=) | COSMIC COSMIC |
7 | g.139961949G>A | CA4511831 | TBXAS1 | c.850G>A (p.Asp284Asn) c.*639G>A (n.*639G>A) c.988G>A (p.Asp330Asn) c.853G>A (p.Asp285Asn) c.991G>A (p.Asp331Asn) c.649G>A (p.Asp217Asn) n.821G>A n.333G>A n.215G>A c.793G>A (p.Asp265Asn) c.-4294966179G>A c.667G>A (p.Asp223Asn) c.595G>A (p.Asp199Asn) | dbSNP ExAC gnomAD v2 |
7 | g.139961949G>C | CA369584000 | TBXAS1 | c.850G>C (p.Asp284His) c.*639G>C (n.*639G>C) c.988G>C (p.Asp330His) c.853G>C (p.Asp285His) c.991G>C (p.Asp331His) c.649G>C (p.Asp217His) n.821G>C n.333G>C n.215G>C c.793G>C (p.Asp265His) c.-4294966179G>C c.667G>C (p.Asp223His) c.595G>C (p.Asp199His) | |
7 | g.139961949G= | CA1747341017 | TBXAS1 | c.850G= (p.Asp284=) c.*639G= (n.*639G=) c.988G= (p.Asp330=) c.853G= (p.Asp285=) c.991G= (p.Asp331=) c.649G= (p.Asp217=) n.821G= n.333G= n.215G= c.793G= (p.Asp265=) c.-4294966179G= c.667G= (p.Asp223=) c.595G= (p.Asp199=) | |
7 | g.139961949G>T | CA369584002 | TBXAS1 | c.850G>T (p.Asp284Tyr) c.*639G>T (n.*639G>T) c.988G>T (p.Asp330Tyr) c.853G>T (p.Asp285Tyr) c.991G>T (p.Asp331Tyr) c.649G>T (p.Asp217Tyr) n.821G>T n.333G>T n.215G>T c.793G>T (p.Asp265Tyr) c.-4294966179G>T c.667G>T (p.Asp223Tyr) c.595G>T (p.Asp199Tyr) | |
7 | g.139961950A>C | CA369584005 | TBXAS1 | c.851A>C (p.Asp284Ala) c.*640A>C (n.*640A>C) c.989A>C (p.Asp330Ala) c.854A>C (p.Asp285Ala) c.992A>C (p.Asp331Ala) c.650A>C (p.Asp217Ala) n.822A>C n.334A>C n.216A>C c.794A>C (p.Asp265Ala) c.-4294966178A>C c.668A>C (p.Asp223Ala) c.596A>C (p.Asp199Ala) | |
7 | g.139961950A>G | CA369584010 | TBXAS1 | c.851A>G (p.Asp284Gly) c.*640A>G (n.*640A>G) c.989A>G (p.Asp330Gly) c.854A>G (p.Asp285Gly) c.992A>G (p.Asp331Gly) c.650A>G (p.Asp217Gly) n.822A>G n.334A>G n.216A>G c.794A>G (p.Asp265Gly) c.-4294966178A>G c.668A>G (p.Asp223Gly) c.596A>G (p.Asp199Gly) | |
7 | g.139961950A>T | CA369584007 | TBXAS1 | c.851A>T (p.Asp284Val) c.*640A>T (n.*640A>T) c.989A>T (p.Asp330Val) c.854A>T (p.Asp285Val) c.992A>T (p.Asp331Val) c.650A>T (p.Asp217Val) n.822A>T n.334A>T n.216A>T c.794A>T (p.Asp265Val) c.-4294966178A>T c.668A>T (p.Asp223Val) c.596A>T (p.Asp199Val) | |
7 | g.139961950dup | CA2501845623 | TBXAS1 | c.851dup (p.Asp284GlufsTer15) c.*640dup (n.*640dup) c.989dup (p.Asp330GlufsTer15) c.854dup (p.Asp285GlufsTer15) c.992dup (p.Asp331GlufsTer15) c.650dup (p.Asp217GlufsTer15) n.822dup n.334dup n.216dup c.794dup (p.Asp265GlufsTer15) c.-4294966178dup c.668dup (p.Asp223GlufsTer15) c.596dup (p.Asp199GlufsTer15) | |
7 | g.139961951T>A | CA369584012 | TBXAS1 | c.852T>A (p.Asp284Glu) c.*641T>A (n.*641T>A) c.990T>A (p.Asp330Glu) c.855T>A (p.Asp285Glu) c.993T>A (p.Asp331Glu) c.651T>A (p.Asp217Glu) n.823T>A n.335T>A n.217T>A c.795T>A (p.Asp265Glu) c.-4294966177T>A c.669T>A (p.Asp223Glu) c.597T>A (p.Asp199Glu) | gnomAD v4 |
7 | g.139961951T>C | CA458115337 | TBXAS1 | c.852T>C (p.Asp284=) c.*641T>C (n.*641T>C) c.990T>C (p.Asp330=) c.855T>C (p.Asp285=) c.993T>C (p.Asp331=) c.651T>C (p.Asp217=) n.823T>C n.335T>C n.217T>C c.795T>C (p.Asp265=) c.-4294966177T>C c.669T>C (p.Asp223=) c.597T>C (p.Asp199=) | |
7 | g.139961951T>G | CA369584014 | TBXAS1 | c.852T>G (p.Asp284Glu) c.*641T>G (n.*641T>G) c.990T>G (p.Asp330Glu) c.855T>G (p.Asp285Glu) c.993T>G (p.Asp331Glu) c.651T>G (p.Asp217Glu) n.823T>G n.335T>G n.217T>G c.795T>G (p.Asp265Glu) c.-4294966177T>G c.669T>G (p.Asp223Glu) c.597T>G (p.Asp199Glu) | gnomAD v4 |
7 | g.139961952G>A | CA369584015 | TBXAS1 | c.853G>A (p.Ala285Thr) c.*642G>A (n.*642G>A) c.991G>A (p.Ala331Thr) c.856G>A (p.Ala286Thr) c.994G>A (p.Ala332Thr) c.652G>A (p.Ala218Thr) n.824G>A n.336G>A n.218G>A c.796G>A (p.Ala266Thr) c.-4294966176G>A c.670G>A (p.Ala224Thr) c.598G>A (p.Ala200Thr) | |
7 | g.139961952G>C | CA369584017 | TBXAS1 | c.853G>C (p.Ala285Pro) c.*642G>C (n.*642G>C) c.991G>C (p.Ala331Pro) c.856G>C (p.Ala286Pro) c.994G>C (p.Ala332Pro) c.652G>C (p.Ala218Pro) n.824G>C n.336G>C n.218G>C c.796G>C (p.Ala266Pro) c.-4294966176G>C c.670G>C (p.Ala224Pro) c.598G>C (p.Ala200Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961952G= | CA1747341018 | TBXAS1 | c.853G= (p.Ala285=) c.*642G= (n.*642G=) c.991G= (p.Ala331=) c.856G= (p.Ala286=) c.994G= (p.Ala332=) c.652G= (p.Ala218=) n.824G= n.336G= n.218G= c.796G= (p.Ala266=) c.-4294966176G= c.670G= (p.Ala224=) c.598G= (p.Ala200=) | |
7 | g.139961952G>T | CA369584019 | TBXAS1 | c.853G>T (p.Ala285Ser) c.*642G>T (n.*642G>T) c.991G>T (p.Ala331Ser) c.856G>T (p.Ala286Ser) c.994G>T (p.Ala332Ser) c.652G>T (p.Ala218Ser) n.824G>T n.336G>T n.218G>T c.796G>T (p.Ala266Ser) c.-4294966176G>T c.670G>T (p.Ala224Ser) c.598G>T (p.Ala200Ser) | |
7 | g.139961953C>A | CA369584021 | TBXAS1 | c.854C>A (p.Ala285Asp) c.*643C>A (n.*643C>A) c.992C>A (p.Ala331Asp) c.857C>A (p.Ala286Asp) c.995C>A (p.Ala332Asp) c.653C>A (p.Ala218Asp) n.825C>A n.337C>A n.219C>A c.797C>A (p.Ala266Asp) c.-4294966175C>A c.671C>A (p.Ala224Asp) c.599C>A (p.Ala200Asp) | |
7 | g.139961953C>G | CA369584023 | TBXAS1 | c.854C>G (p.Ala285Gly) c.*643C>G (n.*643C>G) c.992C>G (p.Ala331Gly) c.857C>G (p.Ala286Gly) c.995C>G (p.Ala332Gly) c.653C>G (p.Ala218Gly) n.825C>G n.337C>G n.219C>G c.797C>G (p.Ala266Gly) c.-4294966175C>G c.671C>G (p.Ala224Gly) c.599C>G (p.Ala200Gly) | |
7 | g.139961953C>T | CA369584025 | TBXAS1 | c.854C>T (p.Ala285Val) c.*643C>T (n.*643C>T) c.992C>T (p.Ala331Val) c.857C>T (p.Ala286Val) c.995C>T (p.Ala332Val) c.653C>T (p.Ala218Val) n.825C>T n.337C>T n.219C>T c.797C>T (p.Ala266Val) c.-4294966175C>T c.671C>T (p.Ala224Val) c.599C>T (p.Ala200Val) | |
7 | g.139961954C>A | CA458115339 | TBXAS1 | c.855C>A (p.Ala285=) c.*644C>A (n.*644C>A) c.993C>A (p.Ala331=) c.858C>A (p.Ala286=) c.996C>A (p.Ala332=) c.654C>A (p.Ala218=) n.826C>A n.338C>A n.220C>A c.798C>A (p.Ala266=) c.-4294966174C>A c.672C>A (p.Ala224=) c.600C>A (p.Ala200=) | |
7 | g.139961954C= | CA1747341019 | TBXAS1 | c.855C= (p.Ala285=) c.*644C= (n.*644C=) c.993C= (p.Ala331=) c.858C= (p.Ala286=) c.996C= (p.Ala332=) c.654C= (p.Ala218=) n.826C= n.338C= n.220C= c.798C= (p.Ala266=) c.-4294966174C= c.672C= (p.Ala224=) c.600C= (p.Ala200=) | |
7 | g.139961954C>G | CA167953441 | TBXAS1 | c.855C>G (p.Ala285=) c.*644C>G (n.*644C>G) c.993C>G (p.Ala331=) c.858C>G (p.Ala286=) c.996C>G (p.Ala332=) c.654C>G (p.Ala218=) n.826C>G n.338C>G n.220C>G c.798C>G (p.Ala266=) c.-4294966174C>G c.672C>G (p.Ala224=) c.600C>G (p.Ala200=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961954C>T | CA458115338 | TBXAS1 | c.855C>T (p.Ala285=) c.*644C>T (n.*644C>T) c.993C>T (p.Ala331=) c.858C>T (p.Ala286=) c.996C>T (p.Ala332=) c.654C>T (p.Ala218=) n.826C>T n.338C>T n.220C>T c.798C>T (p.Ala266=) c.-4294966174C>T c.672C>T (p.Ala224=) c.600C>T (p.Ala200=) | |
7 | g.139961955C>A | CA458115340 | TBXAS1 | c.856C>A (p.Arg286=) c.*645C>A (n.*645C>A) c.994C>A (p.Arg332=) c.859C>A (p.Arg287=) c.997C>A (p.Arg333=) c.655C>A (p.Arg219=) n.827C>A n.339C>A n.221C>A c.799C>A (p.Arg267=) c.-4294966173C>A c.673C>A (p.Arg225=) c.601C>A (p.Arg201=) | |
7 | g.139961955C= | CA1747341020 | TBXAS1 | c.856C= (p.Arg286=) c.*645C= (n.*645C=) c.994C= (p.Arg332=) c.859C= (p.Arg287=) c.997C= (p.Arg333=) c.655C= (p.Arg219=) n.827C= n.339C= n.221C= c.799C= (p.Arg267=) c.-4294966173C= c.673C= (p.Arg225=) c.601C= (p.Arg201=) | |
7 | g.139961955C>G | CA369584028 | TBXAS1 | c.856C>G (p.Arg286Gly) c.*645C>G (n.*645C>G) c.994C>G (p.Arg332Gly) c.859C>G (p.Arg287Gly) c.997C>G (p.Arg333Gly) c.655C>G (p.Arg219Gly) n.827C>G n.339C>G n.221C>G c.799C>G (p.Arg267Gly) c.-4294966173C>G c.673C>G (p.Arg225Gly) c.601C>G (p.Arg201Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961955C>T | CA4511832 | TBXAS1 | c.856C>T (p.Arg286Ter) c.*645C>T (n.*645C>T) c.994C>T (p.Arg332Ter) c.859C>T (p.Arg287Ter) c.997C>T (p.Arg333Ter) c.655C>T (p.Arg219Ter) n.827C>T n.339C>T n.221C>T c.799C>T (p.Arg267Ter) c.-4294966173C>T c.673C>T (p.Arg225Ter) c.601C>T (p.Arg201Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961956G>A | CA4511833 | TBXAS1 | c.857G>A (p.Arg286Gln) c.*646G>A (n.*646G>A) c.995G>A (p.Arg332Gln) c.860G>A (p.Arg287Gln) c.998G>A (p.Arg333Gln) c.656G>A (p.Arg219Gln) n.828G>A n.340G>A n.222G>A c.800G>A (p.Arg267Gln) c.-4294966172G>A c.674G>A (p.Arg225Gln) c.602G>A (p.Arg201Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.139961956G>C | CA369584035 | TBXAS1 | c.857G>C (p.Arg286Pro) c.*646G>C (n.*646G>C) c.995G>C (p.Arg332Pro) c.860G>C (p.Arg287Pro) c.998G>C (p.Arg333Pro) c.656G>C (p.Arg219Pro) n.828G>C n.340G>C n.222G>C c.800G>C (p.Arg267Pro) c.-4294966172G>C c.674G>C (p.Arg225Pro) c.602G>C (p.Arg201Pro) | |
7 | g.139961956G= | CA1747341021 | TBXAS1 | c.857G= (p.Arg286=) c.*646G= (n.*646G=) c.995G= (p.Arg332=) c.860G= (p.Arg287=) c.998G= (p.Arg333=) c.656G= (p.Arg219=) n.828G= n.340G= n.222G= c.800G= (p.Arg267=) c.-4294966172G= c.674G= (p.Arg225=) c.602G= (p.Arg201=) | |
7 | g.139961956G>T | CA369584032 | TBXAS1 | c.857G>T (p.Arg286Leu) c.*646G>T (n.*646G>T) c.995G>T (p.Arg332Leu) c.860G>T (p.Arg287Leu) c.998G>T (p.Arg333Leu) c.656G>T (p.Arg219Leu) n.828G>T n.340G>T n.222G>T c.800G>T (p.Arg267Leu) c.-4294966172G>T c.674G>T (p.Arg225Leu) c.602G>T (p.Arg201Leu) | |
7 | g.139961957A>C | CA458115341 | TBXAS1 | c.858A>C (p.Arg286=) c.*647A>C (n.*647A>C) c.996A>C (p.Arg332=) c.861A>C (p.Arg287=) c.999A>C (p.Arg333=) c.657A>C (p.Arg219=) n.829A>C n.341A>C n.223A>C c.801A>C (p.Arg267=) c.-4294966171A>C c.675A>C (p.Arg225=) c.603A>C (p.Arg201=) | |
7 | g.139961957A>G | CA458115342 | TBXAS1 | c.858A>G (p.Arg286=) c.*647A>G (n.*647A>G) c.996A>G (p.Arg332=) c.861A>G (p.Arg287=) c.999A>G (p.Arg333=) c.657A>G (p.Arg219=) n.829A>G n.341A>G n.223A>G c.801A>G (p.Arg267=) c.-4294966171A>G c.675A>G (p.Arg225=) c.603A>G (p.Arg201=) | |
7 | g.139961957A>T | CA458115343 | TBXAS1 | c.858A>T (p.Arg286=) c.*647A>T (n.*647A>T) c.996A>T (p.Arg332=) c.861A>T (p.Arg287=) c.999A>T (p.Arg333=) c.657A>T (p.Arg219=) n.829A>T n.341A>T n.223A>T c.801A>T (p.Arg267=) c.-4294966171A>T c.675A>T (p.Arg225=) c.603A>T (p.Arg201=) | |
7 | g.139961958C>A | CA369584037 | TBXAS1 | c.859C>A (p.His287Asn) c.*648C>A (n.*648C>A) c.997C>A (p.His333Asn) c.862C>A (p.His288Asn) c.1000C>A (p.His334Asn) c.658C>A (p.His220Asn) n.830C>A n.342C>A n.224C>A c.802C>A (p.His268Asn) c.-4294966170C>A c.676C>A (p.His226Asn) c.604C>A (p.His202Asn) | |
7 | g.139961958C= | CA1747341022 | TBXAS1 | c.859C= (p.His287=) c.*648C= (n.*648C=) c.997C= (p.His333=) c.862C= (p.His288=) c.1000C= (p.His334=) c.658C= (p.His220=) n.830C= n.342C= n.224C= c.802C= (p.His268=) c.-4294966170C= c.676C= (p.His226=) c.604C= (p.His202=) | |
7 | g.139961958C>G | CA369584041 | TBXAS1 | c.859C>G (p.His287Asp) c.*648C>G (n.*648C>G) c.997C>G (p.His333Asp) c.862C>G (p.His288Asp) c.1000C>G (p.His334Asp) c.658C>G (p.His220Asp) n.830C>G n.342C>G n.224C>G c.802C>G (p.His268Asp) c.-4294966170C>G c.676C>G (p.His226Asp) c.604C>G (p.His202Asp) | |
7 | g.139961958C>T | CA369584039 | TBXAS1 | c.859C>T (p.His287Tyr) c.*648C>T (n.*648C>T) c.997C>T (p.His333Tyr) c.862C>T (p.His288Tyr) c.1000C>T (p.His334Tyr) c.658C>T (p.His220Tyr) n.830C>T n.342C>T n.224C>T c.802C>T (p.His268Tyr) c.-4294966170C>T c.676C>T (p.His226Tyr) c.604C>T (p.His202Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961959A>C | CA369584043 | TBXAS1 | c.860A>C (p.His287Pro) c.*649A>C (n.*649A>C) c.998A>C (p.His333Pro) c.863A>C (p.His288Pro) c.1001A>C (p.His334Pro) c.659A>C (p.His220Pro) n.831A>C n.343A>C n.225A>C c.803A>C (p.His268Pro) c.-4294966169A>C c.677A>C (p.His226Pro) c.605A>C (p.His202Pro) | |
7 | g.139961959A>G | CA369584044 | TBXAS1 | c.860A>G (p.His287Arg) c.*649A>G (n.*649A>G) c.998A>G (p.His333Arg) c.863A>G (p.His288Arg) c.1001A>G (p.His334Arg) c.659A>G (p.His220Arg) n.831A>G n.343A>G n.225A>G c.803A>G (p.His268Arg) c.-4294966169A>G c.677A>G (p.His226Arg) c.605A>G (p.His202Arg) | |
7 | g.139961959A>T | CA369584046 | TBXAS1 | c.860A>T (p.His287Leu) c.*649A>T (n.*649A>T) c.998A>T (p.His333Leu) c.863A>T (p.His288Leu) c.1001A>T (p.His334Leu) c.659A>T (p.His220Leu) n.831A>T n.343A>T n.225A>T c.803A>T (p.His268Leu) c.-4294966169A>T c.677A>T (p.His226Leu) c.605A>T (p.His202Leu) | |
7 | g.139961960T>A | CA369584048 | TBXAS1 | c.861T>A (p.His287Gln) c.*650T>A (n.*650T>A) c.999T>A (p.His333Gln) c.864T>A (p.His288Gln) c.1002T>A (p.His334Gln) c.660T>A (p.His220Gln) n.832T>A n.344T>A n.226T>A c.804T>A (p.His268Gln) c.-4294966168T>A c.678T>A (p.His226Gln) c.606T>A (p.His202Gln) | |
7 | g.139961960T>C | CA458115345 | TBXAS1 | c.861T>C (p.His287=) c.*650T>C (n.*650T>C) c.999T>C (p.His333=) c.864T>C (p.His288=) c.1002T>C (p.His334=) c.660T>C (p.His220=) n.832T>C n.344T>C n.226T>C c.804T>C (p.His268=) c.-4294966168T>C c.678T>C (p.His226=) c.606T>C (p.His202=) | |
7 | g.139961960T>G | CA369584051 | TBXAS1 | c.861T>G (p.His287Gln) c.*650T>G (n.*650T>G) c.999T>G (p.His333Gln) c.864T>G (p.His288Gln) c.1002T>G (p.His334Gln) c.660T>G (p.His220Gln) n.832T>G n.344T>G n.226T>G c.804T>G (p.His268Gln) c.-4294966168T>G c.678T>G (p.His226Gln) c.606T>G (p.His202Gln) | |
7 | g.139961961T>A | CA369584056 | TBXAS1 | c.862T>A (p.Ser288Thr) c.*651T>A (n.*651T>A) c.1000T>A (p.Ser334Thr) c.865T>A (p.Ser289Thr) c.1003T>A (p.Ser335Thr) c.661T>A (p.Ser221Thr) n.833T>A n.345T>A n.227T>A c.805T>A (p.Ser269Thr) c.-4294966167T>A c.679T>A (p.Ser227Thr) c.607T>A (p.Ser203Thr) | |
7 | g.139961961T>C | CA369584058 | TBXAS1 | c.862T>C (p.Ser288Pro) c.*651T>C (n.*651T>C) c.1000T>C (p.Ser334Pro) c.865T>C (p.Ser289Pro) c.1003T>C (p.Ser335Pro) c.661T>C (p.Ser221Pro) n.833T>C n.345T>C n.227T>C c.805T>C (p.Ser269Pro) c.-4294966167T>C c.679T>C (p.Ser227Pro) c.607T>C (p.Ser203Pro) | |
7 | g.139961961T>G | CA369584061 | TBXAS1 | c.862T>G (p.Ser288Ala) c.*651T>G (n.*651T>G) c.1000T>G (p.Ser334Ala) c.865T>G (p.Ser289Ala) c.1003T>G (p.Ser335Ala) c.661T>G (p.Ser221Ala) n.833T>G n.345T>G n.227T>G c.805T>G (p.Ser269Ala) c.-4294966167T>G c.679T>G (p.Ser227Ala) c.607T>G (p.Ser203Ala) | |
7 | g.139961962C>A | CA369584067 | TBXAS1 | c.863C>A (p.Ser288Tyr) c.*652C>A (n.*652C>A) c.1001C>A (p.Ser334Tyr) c.866C>A (p.Ser289Tyr) c.1004C>A (p.Ser335Tyr) c.662C>A (p.Ser221Tyr) n.834C>A n.346C>A n.228C>A c.806C>A (p.Ser269Tyr) c.-4294966166C>A c.680C>A (p.Ser227Tyr) c.608C>A (p.Ser203Tyr) | |
7 | g.139961962C= | CA1747341023 | TBXAS1 | c.863C= (p.Ser288=) c.*652C= (n.*652C=) c.1001C= (p.Ser334=) c.866C= (p.Ser289=) c.1004C= (p.Ser335=) c.662C= (p.Ser221=) n.834C= n.346C= n.228C= c.806C= (p.Ser269=) c.-4294966166C= c.680C= (p.Ser227=) c.608C= (p.Ser203=) | |
7 | g.139961962C>G | CA369584069 | TBXAS1 | c.863C>G (p.Ser288Cys) c.*652C>G (n.*652C>G) c.1001C>G (p.Ser334Cys) c.866C>G (p.Ser289Cys) c.1004C>G (p.Ser335Cys) c.662C>G (p.Ser221Cys) n.834C>G n.346C>G n.228C>G c.806C>G (p.Ser269Cys) c.-4294966166C>G c.680C>G (p.Ser227Cys) c.608C>G (p.Ser203Cys) | dbSNP gnomAD v4 |
7 | g.139961962C>T | CA369584073 | TBXAS1 | c.863C>T (p.Ser288Phe) c.*652C>T (n.*652C>T) c.1001C>T (p.Ser334Phe) c.866C>T (p.Ser289Phe) c.1004C>T (p.Ser335Phe) c.662C>T (p.Ser221Phe) n.834C>T n.346C>T n.228C>T c.806C>T (p.Ser269Phe) c.-4294966166C>T c.680C>T (p.Ser227Phe) c.608C>T (p.Ser203Phe) | gnomAD v4 |
7 | g.139961963T>A | CA458115352 | TBXAS1 | c.864T>A (p.Ser288=) c.*653T>A (n.*653T>A) c.1002T>A (p.Ser334=) c.867T>A (p.Ser289=) c.1005T>A (p.Ser335=) c.663T>A (p.Ser221=) n.835T>A n.347T>A n.229T>A c.807T>A (p.Ser269=) c.-4294966165T>A c.681T>A (p.Ser227=) c.609T>A (p.Ser203=) | |
7 | g.139961963T>C | CA458115351 | TBXAS1 | c.864T>C (p.Ser288=) c.*653T>C (n.*653T>C) c.1002T>C (p.Ser334=) c.867T>C (p.Ser289=) c.1005T>C (p.Ser335=) c.663T>C (p.Ser221=) n.835T>C n.347T>C n.229T>C c.807T>C (p.Ser269=) c.-4294966165T>C c.681T>C (p.Ser227=) c.609T>C (p.Ser203=) | |
7 | g.139961963T>G | CA458115350 | TBXAS1 | c.864T>G (p.Ser288=) c.*653T>G (n.*653T>G) c.1002T>G (p.Ser334=) c.867T>G (p.Ser289=) c.1005T>G (p.Ser335=) c.663T>G (p.Ser221=) n.835T>G n.347T>G n.229T>G c.807T>G (p.Ser269=) c.-4294966165T>G c.681T>G (p.Ser227=) c.609T>G (p.Ser203=) | |
7 | g.139961963T= | CA1747341024 | TBXAS1 | c.864T= (p.Ser288=) c.*653T= (n.*653T=) c.1002T= (p.Ser334=) c.867T= (p.Ser289=) c.1005T= (p.Ser335=) c.663T= (p.Ser221=) n.835T= n.347T= n.229T= c.807T= (p.Ser269=) c.-4294966165T= c.681T= (p.Ser227=) c.609T= (p.Ser203=) | |
7 | g.139961963_139961964insC | CA1747341025 | TBXAS1 | c.864_865insC (p.Ala289ArgfsTer10) c.*653_*654insC (n.*653_*654insC) c.1002_1003insC (p.Ala335ArgfsTer10) c.867_868insC (p.Ala290ArgfsTer10) c.1005_1006insC (p.Ala336ArgfsTer10) c.663_664insC (p.Ala222ArgfsTer10) n.835_836insC n.347_348insC n.229_230insC c.807_808insC (p.Ala270ArgfsTer10) c.-4294966165_-4294966164insC c.681_682insC (p.Ala228ArgfsTer10) c.609_610insC (p.Ala204ArgfsTer10) | dbSNP gnomAD v4 |
7 | g.139961964G>A | CA369584080 | TBXAS1 | c.865G>A (p.Ala289Thr) c.*654G>A (n.*654G>A) c.1003G>A (p.Ala335Thr) c.868G>A (p.Ala290Thr) c.1006G>A (p.Ala336Thr) c.664G>A (p.Ala222Thr) n.836G>A n.348G>A n.230G>A c.808G>A (p.Ala270Thr) c.-4294966164G>A c.682G>A (p.Ala228Thr) c.610G>A (p.Ala204Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139961964G>C | CA369584076 | TBXAS1 | c.865G>C (p.Ala289Pro) c.*654G>C (n.*654G>C) c.1003G>C (p.Ala335Pro) c.868G>C (p.Ala290Pro) c.1006G>C (p.Ala336Pro) c.664G>C (p.Ala222Pro) n.836G>C n.348G>C n.230G>C c.808G>C (p.Ala270Pro) c.-4294966164G>C c.682G>C (p.Ala228Pro) c.610G>C (p.Ala204Pro) | |
7 | g.139961964G= | CA1747341026 | TBXAS1 | c.865G= (p.Ala289=) c.*654G= (n.*654G=) c.1003G= (p.Ala335=) c.868G= (p.Ala290=) c.1006G= (p.Ala336=) c.664G= (p.Ala222=) n.836G= n.348G= n.230G= c.808G= (p.Ala270=) c.-4294966164G= c.682G= (p.Ala228=) c.610G= (p.Ala204=) | |
7 | g.139961964G>T | CA369584077 | TBXAS1 | c.865G>T (p.Ala289Ser) c.*654G>T (n.*654G>T) c.1003G>T (p.Ala335Ser) c.868G>T (p.Ala290Ser) c.1006G>T (p.Ala336Ser) c.664G>T (p.Ala222Ser) n.836G>T n.348G>T n.230G>T c.808G>T (p.Ala270Ser) c.-4294966164G>T c.682G>T (p.Ala228Ser) c.610G>T (p.Ala204Ser) | dbSNP gnomAD v4 |
7 | g.139961965C>A | CA369584083 | TBXAS1 | c.866C>A (p.Ala289Glu) c.*655C>A (n.*655C>A) c.1004C>A (p.Ala335Glu) c.869C>A (p.Ala290Glu) c.1007C>A (p.Ala336Glu) c.665C>A (p.Ala222Glu) n.837C>A n.349C>A n.231C>A c.809C>A (p.Ala270Glu) c.-4294966163C>A c.683C>A (p.Ala228Glu) c.611C>A (p.Ala204Glu) | |
7 | g.139961965C>G | CA369584086 | TBXAS1 | c.866C>G (p.Ala289Gly) c.*655C>G (n.*655C>G) c.1004C>G (p.Ala335Gly) c.869C>G (p.Ala290Gly) c.1007C>G (p.Ala336Gly) c.665C>G (p.Ala222Gly) n.837C>G n.349C>G n.231C>G c.809C>G (p.Ala270Gly) c.-4294966163C>G c.683C>G (p.Ala228Gly) c.611C>G (p.Ala204Gly) | |
7 | g.139961965C>T | CA369584088 | TBXAS1 | c.866C>T (p.Ala289Val) c.*655C>T (n.*655C>T) c.1004C>T (p.Ala335Val) c.869C>T (p.Ala290Val) c.1007C>T (p.Ala336Val) c.665C>T (p.Ala222Val) n.837C>T n.349C>T n.231C>T c.809C>T (p.Ala270Val) c.-4294966163C>T c.683C>T (p.Ala228Val) c.611C>T (p.Ala204Val) | |
7 | g.139961965dup | CA2685190566 | TBXAS1 | c.866dup (p.Ser290LysfsTer9) c.*655dup (n.*655dup) c.1004dup (p.Ser336LysfsTer9) c.869dup (p.Ser291LysfsTer9) c.1007dup (p.Ser337LysfsTer9) c.665dup (p.Ser223LysfsTer9) n.837dup n.349dup n.231dup c.809dup (p.Ser271LysfsTer9) c.-4294966163dup c.683dup (p.Ser229LysfsTer9) c.611dup (p.Ser205LysfsTer9) | gnomAD v4 |
7 | g.139961966A>C | CA458115354 | TBXAS1 | c.867A>C (p.Ala289=) c.*656A>C (n.*656A>C) c.1005A>C (p.Ala335=) c.870A>C (p.Ala290=) c.1008A>C (p.Ala336=) c.666A>C (p.Ala222=) n.838A>C n.350A>C n.232A>C c.810A>C (p.Ala270=) c.-4294966162A>C c.684A>C (p.Ala228=) c.612A>C (p.Ala204=) | |
7 | g.139961966A>G | CA458115356 | TBXAS1 | c.867A>G (p.Ala289=) c.*656A>G (n.*656A>G) c.1005A>G (p.Ala335=) c.870A>G (p.Ala290=) c.1008A>G (p.Ala336=) c.666A>G (p.Ala222=) n.838A>G n.350A>G n.232A>G c.810A>G (p.Ala270=) c.-4294966162A>G c.684A>G (p.Ala228=) c.612A>G (p.Ala204=) | |
7 | g.139961966A>T | CA458115355 | TBXAS1 | c.867A>T (p.Ala289=) c.*656A>T (n.*656A>T) c.1005A>T (p.Ala335=) c.870A>T (p.Ala290=) c.1008A>T (p.Ala336=) c.666A>T (p.Ala222=) n.838A>T n.350A>T n.232A>T c.810A>T (p.Ala270=) c.-4294966162A>T c.684A>T (p.Ala228=) c.612A>T (p.Ala204=) | |
7 | g.139961967A>C | CA369584092 | TBXAS1 | c.868A>C (p.Ser290Arg) c.*657A>C (n.*657A>C) c.1006A>C (p.Ser336Arg) c.871A>C (p.Ser291Arg) c.1009A>C (p.Ser337Arg) c.667A>C (p.Ser223Arg) n.839A>C n.351A>C n.233A>C c.811A>C (p.Ser271Arg) c.-4294966161A>C c.685A>C (p.Ser229Arg) c.613A>C (p.Ser205Arg) | |
7 | g.139961967A>G | CA369584095 | TBXAS1 | c.868A>G (p.Ser290Gly) c.*657A>G (n.*657A>G) c.1006A>G (p.Ser336Gly) c.871A>G (p.Ser291Gly) c.1009A>G (p.Ser337Gly) c.667A>G (p.Ser223Gly) n.839A>G n.351A>G n.233A>G c.811A>G (p.Ser271Gly) c.-4294966161A>G c.685A>G (p.Ser229Gly) c.613A>G (p.Ser205Gly) | |
7 | g.139961967A>T | CA369584098 | TBXAS1 | c.868A>T (p.Ser290Cys) c.*657A>T (n.*657A>T) c.1006A>T (p.Ser336Cys) c.871A>T (p.Ser291Cys) c.1009A>T (p.Ser337Cys) c.667A>T (p.Ser223Cys) n.839A>T n.351A>T n.233A>T c.811A>T (p.Ser271Cys) c.-4294966161A>T c.685A>T (p.Ser229Cys) c.613A>T (p.Ser205Cys) | |
7 | g.139961968G>A | CA369584104 | TBXAS1 | c.869G>A (p.Ser290Asn) c.*658G>A (n.*658G>A) c.1007G>A (p.Ser336Asn) c.872G>A (p.Ser291Asn) c.1010G>A (p.Ser337Asn) c.668G>A (p.Ser223Asn) n.840G>A n.352G>A n.234G>A c.812G>A (p.Ser271Asn) c.-4294966160G>A c.686G>A (p.Ser229Asn) c.614G>A (p.Ser205Asn) | gnomAD v4 |
7 | g.139961968G>C | CA369584106 | TBXAS1 | c.869G>C (p.Ser290Thr) c.*658G>C (n.*658G>C) c.1007G>C (p.Ser336Thr) c.872G>C (p.Ser291Thr) c.1010G>C (p.Ser337Thr) c.668G>C (p.Ser223Thr) n.840G>C n.352G>C n.234G>C c.812G>C (p.Ser271Thr) c.-4294966160G>C c.686G>C (p.Ser229Thr) c.614G>C (p.Ser205Thr) | gnomAD v4 |
7 | g.139961968G>T | CA369584111 | TBXAS1 | c.869G>T (p.Ser290Ile) c.*658G>T (n.*658G>T) c.1007G>T (p.Ser336Ile) c.872G>T (p.Ser291Ile) c.1010G>T (p.Ser337Ile) c.668G>T (p.Ser223Ile) n.840G>T n.352G>T n.234G>T c.812G>T (p.Ser271Ile) c.-4294966160G>T c.686G>T (p.Ser229Ile) c.614G>T (p.Ser205Ile) | |
7 | g.139961969T>A | CA369584114 | TBXAS1 | c.870T>A (p.Ser290Arg) c.*659T>A (n.*659T>A) c.1008T>A (p.Ser336Arg) c.873T>A (p.Ser291Arg) c.1011T>A (p.Ser337Arg) c.669T>A (p.Ser223Arg) n.841T>A n.353T>A n.235T>A c.813T>A (p.Ser271Arg) c.-4294966159T>A c.687T>A (p.Ser229Arg) c.615T>A (p.Ser205Arg) | |
7 | g.139961969T>C | CA458115358 | TBXAS1 | c.870T>C (p.Ser290=) c.*659T>C (n.*659T>C) c.1008T>C (p.Ser336=) c.873T>C (p.Ser291=) c.1011T>C (p.Ser337=) c.669T>C (p.Ser223=) n.841T>C n.353T>C n.235T>C c.813T>C (p.Ser271=) c.-4294966159T>C c.687T>C (p.Ser229=) c.615T>C (p.Ser205=) | gnomAD v4 |
7 | g.139961969T>G | CA369584117 | TBXAS1 | c.870T>G (p.Ser290Arg) c.*659T>G (n.*659T>G) c.1008T>G (p.Ser336Arg) c.873T>G (p.Ser291Arg) c.1011T>G (p.Ser337Arg) c.669T>G (p.Ser223Arg) n.841T>G n.353T>G n.235T>G c.813T>G (p.Ser271Arg) c.-4294966159T>G c.687T>G (p.Ser229Arg) c.615T>G (p.Ser205Arg) | |
7 | g.139961970C>A | CA369584126 | TBXAS1 | c.871C>A (p.Pro291Thr) c.*660C>A (n.*660C>A) c.1009C>A (p.Pro337Thr) c.874C>A (p.Pro292Thr) c.1012C>A (p.Pro338Thr) c.670C>A (p.Pro224Thr) n.842C>A n.354C>A n.236C>A c.814C>A (p.Pro272Thr) c.-4294966158C>A c.688C>A (p.Pro230Thr) c.616C>A (p.Pro206Thr) | |
7 | g.139961970C= | CA1747341027 | TBXAS1 | c.871C= (p.Pro291=) c.*660C= (n.*660C=) c.1009C= (p.Pro337=) c.874C= (p.Pro292=) c.1012C= (p.Pro338=) c.670C= (p.Pro224=) n.842C= n.354C= n.236C= c.814C= (p.Pro272=) c.-4294966158C= c.688C= (p.Pro230=) c.616C= (p.Pro206=) | |
7 | g.139961970C>G | CA369584130 | TBXAS1 | c.871C>G (p.Pro291Ala) c.*660C>G (n.*660C>G) c.1009C>G (p.Pro337Ala) c.874C>G (p.Pro292Ala) c.1012C>G (p.Pro338Ala) c.670C>G (p.Pro224Ala) n.842C>G n.354C>G n.236C>G c.814C>G (p.Pro272Ala) c.-4294966158C>G c.688C>G (p.Pro230Ala) c.616C>G (p.Pro206Ala) | |
7 | g.139961970C>T | CA369584121 | TBXAS1 | c.871C>T (p.Pro291Ser) c.*660C>T (n.*660C>T) c.1009C>T (p.Pro337Ser) c.874C>T (p.Pro292Ser) c.1012C>T (p.Pro338Ser) c.670C>T (p.Pro224Ser) n.842C>T n.354C>T n.236C>T c.814C>T (p.Pro272Ser) c.-4294966158C>T c.688C>T (p.Pro230Ser) c.616C>T (p.Pro206Ser) | ClinVar dbSNP |
7 | g.139961971C>A | CA369584134 | TBXAS1 | c.872C>A (p.Pro291His) c.*661C>A (n.*661C>A) c.1010C>A (p.Pro337His) c.875C>A (p.Pro292His) c.1013C>A (p.Pro338His) c.671C>A (p.Pro224His) n.843C>A n.355C>A n.237C>A c.815C>A (p.Pro272His) c.-4294966157C>A c.689C>A (p.Pro230His) c.617C>A (p.Pro206His) | |
7 | g.139961971C>G | CA369584137 | TBXAS1 | c.872C>G (p.Pro291Arg) c.*661C>G (n.*661C>G) c.1010C>G (p.Pro337Arg) c.875C>G (p.Pro292Arg) c.1013C>G (p.Pro338Arg) c.671C>G (p.Pro224Arg) n.843C>G n.355C>G n.237C>G c.815C>G (p.Pro272Arg) c.-4294966157C>G c.689C>G (p.Pro230Arg) c.617C>G (p.Pro206Arg) | |
7 | g.139961971C>T | CA369584139 | TBXAS1 | c.872C>T (p.Pro291Leu) c.*661C>T (n.*661C>T) c.1010C>T (p.Pro337Leu) c.875C>T (p.Pro292Leu) c.1013C>T (p.Pro338Leu) c.671C>T (p.Pro224Leu) n.843C>T n.355C>T n.237C>T c.815C>T (p.Pro272Leu) c.-4294966157C>T c.689C>T (p.Pro230Leu) c.617C>T (p.Pro206Leu) | |
7 | g.139961972C>A | CA458115361 | TBXAS1 | c.873C>A (p.Pro291=) c.*662C>A (n.*662C>A) c.1011C>A (p.Pro337=) c.876C>A (p.Pro292=) c.1014C>A (p.Pro338=) c.672C>A (p.Pro224=) n.844C>A n.356C>A n.238C>A c.816C>A (p.Pro272=) c.-4294966156C>A c.690C>A (p.Pro230=) c.618C>A (p.Pro206=) | |
7 | g.139961972C>G | CA458115363 | TBXAS1 | c.873C>G (p.Pro291=) c.*662C>G (n.*662C>G) c.1011C>G (p.Pro337=) c.876C>G (p.Pro292=) c.1014C>G (p.Pro338=) c.672C>G (p.Pro224=) n.844C>G n.356C>G n.238C>G c.816C>G (p.Pro272=) c.-4294966156C>G c.690C>G (p.Pro230=) c.618C>G (p.Pro206=) | |
7 | g.139961972C>T | CA458115364 | TBXAS1 | c.873C>T (p.Pro291=) c.*662C>T (n.*662C>T) c.1011C>T (p.Pro337=) c.876C>T (p.Pro292=) c.1014C>T (p.Pro338=) c.672C>T (p.Pro224=) n.844C>T n.356C>T n.238C>T c.816C>T (p.Pro272=) c.-4294966156C>T c.690C>T (p.Pro230=) c.618C>T (p.Pro206=) | |
7 | g.139961973A= | CA1747341028 | TBXAS1 | c.874A= (p.Met292=) c.*663A= (n.*663A=) c.1012A= (p.Met338=) c.877A= (p.Met293=) c.1015A= (p.Met339=) c.673A= (p.Met225=) n.845A= n.357A= n.239A= c.817A= (p.Met273=) c.-4294966155A= c.691A= (p.Met231=) c.619A= (p.Met207=) | |
7 | g.139961973A>C | CA369584146 | TBXAS1 | c.874A>C (p.Met292Leu) c.*663A>C (n.*663A>C) c.1012A>C (p.Met338Leu) c.877A>C (p.Met293Leu) c.1015A>C (p.Met339Leu) c.673A>C (p.Met225Leu) n.845A>C n.357A>C n.239A>C c.817A>C (p.Met273Leu) c.-4294966155A>C c.691A>C (p.Met231Leu) c.619A>C (p.Met207Leu) | |
7 | g.139961973A>G | CA369584149 | TBXAS1 | c.874A>G (p.Met292Val) c.*663A>G (n.*663A>G) c.1012A>G (p.Met338Val) c.877A>G (p.Met293Val) c.1015A>G (p.Met339Val) c.673A>G (p.Met225Val) n.845A>G n.357A>G n.239A>G c.817A>G (p.Met273Val) c.-4294966155A>G c.691A>G (p.Met231Val) c.619A>G (p.Met207Val) | dbSNP gnomAD v4 |
7 | g.139961973A>T | CA369584152 | TBXAS1 | c.874A>T (p.Met292Leu) c.*663A>T (n.*663A>T) c.1012A>T (p.Met338Leu) c.877A>T (p.Met293Leu) c.1015A>T (p.Met339Leu) c.673A>T (p.Met225Leu) n.845A>T n.357A>T n.239A>T c.817A>T (p.Met273Leu) c.-4294966155A>T c.691A>T (p.Met231Leu) c.619A>T (p.Met207Leu) | |
7 | g.139961974T>A | CA369584157 | TBXAS1 | c.875T>A (p.Met292Lys) c.*664T>A (n.*664T>A) c.1013T>A (p.Met338Lys) c.878T>A (p.Met293Lys) c.1016T>A (p.Met339Lys) c.674T>A (p.Met225Lys) n.846T>A n.358T>A n.240T>A c.818T>A (p.Met273Lys) c.-4294966154T>A c.692T>A (p.Met231Lys) c.620T>A (p.Met207Lys) | |
7 | g.139961974T>C | CA4511834 | TBXAS1 | c.875T>C (p.Met292Thr) c.*664T>C (n.*664T>C) c.1013T>C (p.Met338Thr) c.878T>C (p.Met293Thr) c.1016T>C (p.Met339Thr) c.674T>C (p.Met225Thr) n.846T>C n.358T>C n.240T>C c.818T>C (p.Met273Thr) c.-4294966154T>C c.692T>C (p.Met231Thr) c.620T>C (p.Met207Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961974T>G | CA369584161 | TBXAS1 | c.875T>G (p.Met292Arg) c.*664T>G (n.*664T>G) c.1013T>G (p.Met338Arg) c.878T>G (p.Met293Arg) c.1016T>G (p.Met339Arg) c.674T>G (p.Met225Arg) n.846T>G n.358T>G n.240T>G c.818T>G (p.Met273Arg) c.-4294966154T>G c.692T>G (p.Met231Arg) c.620T>G (p.Met207Arg) | |
7 | g.139961974T= | CA1747341029 | TBXAS1 | c.875T= (p.Met292=) c.*664T= (n.*664T=) c.1013T= (p.Met338=) c.878T= (p.Met293=) c.1016T= (p.Met339=) c.674T= (p.Met225=) n.846T= n.358T= n.240T= c.818T= (p.Met273=) c.-4294966154T= c.692T= (p.Met231=) c.620T= (p.Met207=) | |
7 | g.139961975G>A | CA4511835 | TBXAS1 | c.876G>A (p.Met292Ile) c.*665G>A (n.*665G>A) c.1014G>A (p.Met338Ile) c.879G>A (p.Met293Ile) c.1017G>A (p.Met339Ile) c.675G>A (p.Met225Ile) n.847G>A n.359G>A n.241G>A c.819G>A (p.Met273Ile) c.-4294966153G>A c.693G>A (p.Met231Ile) c.621G>A (p.Met207Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139961975G>C | CA369584169 | TBXAS1 | c.876G>C (p.Met292Ile) c.*665G>C (n.*665G>C) c.1014G>C (p.Met338Ile) c.879G>C (p.Met293Ile) c.1017G>C (p.Met339Ile) c.675G>C (p.Met225Ile) n.847G>C n.359G>C n.241G>C c.819G>C (p.Met273Ile) c.-4294966153G>C c.693G>C (p.Met231Ile) c.621G>C (p.Met207Ile) | |
7 | g.139961975G= | CA1747341030 | TBXAS1 | c.876G= (p.Met292=) c.*665G= (n.*665G=) c.1014G= (p.Met338=) c.879G= (p.Met293=) c.1017G= (p.Met339=) c.675G= (p.Met225=) n.847G= n.359G= n.241G= c.819G= (p.Met273=) c.-4294966153G= c.693G= (p.Met231=) c.621G= (p.Met207=) | |
7 | g.139961975G>T | CA369584173 | TBXAS1 | c.876G>T (p.Met292Ile) c.*665G>T (n.*665G>T) c.1014G>T (p.Met338Ile) c.879G>T (p.Met293Ile) c.1017G>T (p.Met339Ile) c.675G>T (p.Met225Ile) n.847G>T n.359G>T n.241G>T c.819G>T (p.Met273Ile) c.-4294966153G>T c.693G>T (p.Met231Ile) c.621G>T (p.Met207Ile) | |
7 | g.139961976G>A | CA369584179 | TBXAS1 | c.877G>A (p.Gly293Ser) c.*666G>A (n.*666G>A) c.1015G>A (p.Gly339Ser) c.880G>A (p.Gly294Ser) c.1018G>A (p.Gly340Ser) c.676G>A (p.Gly226Ser) n.848G>A n.360G>A n.242G>A c.820G>A (p.Gly274Ser) c.-4294966152G>A c.694G>A (p.Gly232Ser) c.622G>A (p.Gly208Ser) | |
7 | g.139961976G>C | CA4511836 | TBXAS1 | c.877G>C (p.Gly293Arg) c.*666G>C (n.*666G>C) c.1015G>C (p.Gly339Arg) c.880G>C (p.Gly294Arg) c.1018G>C (p.Gly340Arg) c.676G>C (p.Gly226Arg) n.848G>C n.360G>C n.242G>C c.820G>C (p.Gly274Arg) c.-4294966152G>C c.694G>C (p.Gly232Arg) c.622G>C (p.Gly208Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139961976G= | CA1747341031 | TBXAS1 | c.877G= (p.Gly293=) c.*666G= (n.*666G=) c.1015G= (p.Gly339=) c.880G= (p.Gly294=) c.1018G= (p.Gly340=) c.676G= (p.Gly226=) n.848G= n.360G= n.242G= c.820G= (p.Gly274=) c.-4294966152G= c.694G= (p.Gly232=) c.622G= (p.Gly208=) | |
7 | g.139961976G>T | CA369584176 | TBXAS1 | c.877G>T (p.Gly293Cys) c.*666G>T (n.*666G>T) c.1015G>T (p.Gly339Cys) c.880G>T (p.Gly294Cys) c.1018G>T (p.Gly340Cys) c.676G>T (p.Gly226Cys) n.848G>T n.360G>T n.242G>T c.820G>T (p.Gly274Cys) c.-4294966152G>T c.694G>T (p.Gly232Cys) c.622G>T (p.Gly208Cys) | |
7 | g.139961977G>A | CA4511837 | TBXAS1 | c.878G>A (p.Gly293Asp) c.*667G>A (n.*667G>A) c.1016G>A (p.Gly339Asp) c.881G>A (p.Gly294Asp) c.1019G>A (p.Gly340Asp) c.677G>A (p.Gly226Asp) n.849G>A n.361G>A n.243G>A c.821G>A (p.Gly274Asp) c.-4294966151G>A c.695G>A (p.Gly232Asp) c.623G>A (p.Gly208Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139961977G>C | CA369584190 | TBXAS1 | c.878G>C (p.Gly293Ala) c.*667G>C (n.*667G>C) c.1016G>C (p.Gly339Ala) c.881G>C (p.Gly294Ala) c.1019G>C (p.Gly340Ala) c.677G>C (p.Gly226Ala) n.849G>C n.361G>C n.243G>C c.821G>C (p.Gly274Ala) c.-4294966151G>C c.695G>C (p.Gly232Ala) c.623G>C (p.Gly208Ala) | |
7 | g.139961977G= | CA1747341032 | TBXAS1 | c.878G= (p.Gly293=) c.*667G= (n.*667G=) c.1016G= (p.Gly339=) c.881G= (p.Gly294=) c.1019G= (p.Gly340=) c.677G= (p.Gly226=) n.849G= n.361G= n.243G= c.821G= (p.Gly274=) c.-4294966151G= c.695G= (p.Gly232=) c.623G= (p.Gly208=) | |
7 | g.139961977G>T | CA369584193 | TBXAS1 | c.878G>T (p.Gly293Val) c.*667G>T (n.*667G>T) c.1016G>T (p.Gly339Val) c.881G>T (p.Gly294Val) c.1019G>T (p.Gly340Val) c.677G>T (p.Gly226Val) n.849G>T n.361G>T n.243G>T c.821G>T (p.Gly274Val) c.-4294966151G>T c.695G>T (p.Gly232Val) c.623G>T (p.Gly208Val) | COSMIC COSMIC |
7 | g.139961977_139961995delinsGCGTGCAAGACTTTGACAT | CA1747341033 | TBXAS1 | c.878_896delinsGCGTGCAAGACTTTGACAT (p.Gly293=) c.*667_*685delinsGCGTGCAAGACTTTGACAT (n.*667_*685delinsGCGTGCAAGACTTTGACAT) c.1016_1034delinsGCGTGCAAGACTTTGACAT (p.Gly339=) c.881_899delinsGCGTGCAAGACTTTGACAT (p.Gly294=) c.1019_1037delinsGCGTGCAAGACTTTGACAT (p.Gly340=) c.677_695delinsGCGTGCAAGACTTTGACAT (p.Gly226=) n.849_867delinsGCGTGCAAGACTTTGACAT n.361_379delinsGCGTGCAAGACTTTGACAT n.243_261delinsGCGTGCAAGACTTTGACAT c.821_839delinsGCGTGCAAGACTTTGACAT (p.Gly274=) c.-4294966151_-4294966133delinsGCGTGCAAGACTTTGACAT c.695_713delinsGCGTGCAAGACTTTGACAT (p.Gly232=) c.623_641delinsGCGTGCAAGACTTTGACAT (p.Gly208=) | |
7 | g.139961978C>A | CA4511839 | TBXAS1 | c.879C>A (p.Gly293=) c.*668C>A (n.*668C>A) c.1017C>A (p.Gly339=) c.882C>A (p.Gly294=) c.1020C>A (p.Gly340=) c.678C>A (p.Gly226=) n.850C>A n.362C>A n.244C>A c.822C>A (p.Gly274=) c.-4294966150C>A c.696C>A (p.Gly232=) c.624C>A (p.Gly208=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961978C= | CA1747341034 | TBXAS1 | c.879C= (p.Gly293=) c.*668C= (n.*668C=) c.1017C= (p.Gly339=) c.882C= (p.Gly294=) c.1020C= (p.Gly340=) c.678C= (p.Gly226=) n.850C= n.362C= n.244C= c.822C= (p.Gly274=) c.-4294966150C= c.696C= (p.Gly232=) c.624C= (p.Gly208=) | |
7 | g.139961978C>G | CA458115368 | TBXAS1 | c.879C>G (p.Gly293=) c.*668C>G (n.*668C>G) c.1017C>G (p.Gly339=) c.882C>G (p.Gly294=) c.1020C>G (p.Gly340=) c.678C>G (p.Gly226=) n.850C>G n.362C>G n.244C>G c.822C>G (p.Gly274=) c.-4294966150C>G c.696C>G (p.Gly232=) c.624C>G (p.Gly208=) | dbSNP |
7 | g.139961978C>T | CA4511838 | TBXAS1 | c.879C>T (p.Gly293=) c.*668C>T (n.*668C>T) c.1017C>T (p.Gly339=) c.882C>T (p.Gly294=) c.1020C>T (p.Gly340=) c.678C>T (p.Gly226=) n.850C>T n.362C>T n.244C>T c.822C>T (p.Gly274=) c.-4294966150C>T c.696C>T (p.Gly232=) c.624C>T (p.Gly208=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961981_139961998del | CA1747341035 | TBXAS1 | c.882_899del (p.Gln295_Val300del) c.*671_*688del (n.*671_*688del) c.1020_1037del (p.Gln341_Val346del) c.885_902del (p.Gln296_Val301del) c.1023_1040del (p.Gln342_Val347del) c.681_698del (p.Gln228_Val233del) n.853_870del n.365_382del n.247_264del c.825_842del (p.Gln276_Val281del) c.-4294966147_-4294966130del c.699_716del (p.Gln234_Val239del) c.627_644del (p.Gln210_Val215del) | dbSNP |
7 | g.139961979G>A | CA4511840 | TBXAS1 | c.880G>A (p.Val294Met) c.*669G>A (n.*669G>A) c.1018G>A (p.Val340Met) c.883G>A (p.Val295Met) c.1021G>A (p.Val341Met) c.679G>A (p.Val227Met) n.851G>A n.363G>A n.245G>A c.823G>A (p.Val275Met) c.-4294966149G>A c.697G>A (p.Val233Met) c.625G>A (p.Val209Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961979G>C | CA369584204 | TBXAS1 | c.880G>C (p.Val294Leu) c.*669G>C (n.*669G>C) c.1018G>C (p.Val340Leu) c.883G>C (p.Val295Leu) c.1021G>C (p.Val341Leu) c.679G>C (p.Val227Leu) n.851G>C n.363G>C n.245G>C c.823G>C (p.Val275Leu) c.-4294966149G>C c.697G>C (p.Val233Leu) c.625G>C (p.Val209Leu) | |
7 | g.139961979G= | CA1747341036 | TBXAS1 | c.880G= (p.Val294=) c.*669G= (n.*669G=) c.1018G= (p.Val340=) c.883G= (p.Val295=) c.1021G= (p.Val341=) c.679G= (p.Val227=) n.851G= n.363G= n.245G= c.823G= (p.Val275=) c.-4294966149G= c.697G= (p.Val233=) c.625G= (p.Val209=) | |
7 | g.139961979G>T | CA4511841 | TBXAS1 | c.880G>T (p.Val294Leu) c.*669G>T (n.*669G>T) c.1018G>T (p.Val340Leu) c.883G>T (p.Val295Leu) c.1021G>T (p.Val341Leu) c.679G>T (p.Val227Leu) n.851G>T n.363G>T n.245G>T c.823G>T (p.Val275Leu) c.-4294966149G>T c.697G>T (p.Val233Leu) c.625G>T (p.Val209Leu) | dbSNP ExAC gnomAD v2 |
7 | g.139961980T>A | CA369584212 | TBXAS1 | c.881T>A (p.Val294Glu) c.*670T>A (n.*670T>A) c.1019T>A (p.Val340Glu) c.884T>A (p.Val295Glu) c.1022T>A (p.Val341Glu) c.680T>A (p.Val227Glu) n.852T>A n.364T>A n.246T>A c.824T>A (p.Val275Glu) c.-4294966148T>A c.698T>A (p.Val233Glu) c.626T>A (p.Val209Glu) | |
7 | g.139961980T>C | CA369584214 | TBXAS1 | c.881T>C (p.Val294Ala) c.*670T>C (n.*670T>C) c.1019T>C (p.Val340Ala) c.884T>C (p.Val295Ala) c.1022T>C (p.Val341Ala) c.680T>C (p.Val227Ala) n.852T>C n.364T>C n.246T>C c.824T>C (p.Val275Ala) c.-4294966148T>C c.698T>C (p.Val233Ala) c.626T>C (p.Val209Ala) | |
7 | g.139961980T>G | CA369584218 | TBXAS1 | c.881T>G (p.Val294Gly) c.*670T>G (n.*670T>G) c.1019T>G (p.Val340Gly) c.884T>G (p.Val295Gly) c.1022T>G (p.Val341Gly) c.680T>G (p.Val227Gly) n.852T>G n.364T>G n.246T>G c.824T>G (p.Val275Gly) c.-4294966148T>G c.698T>G (p.Val233Gly) c.626T>G (p.Val209Gly) | |
7 | g.139961981G>A | CA458115370 | TBXAS1 | c.882G>A (p.Val294=) c.*671G>A (n.*671G>A) c.1020G>A (p.Val340=) c.885G>A (p.Val295=) c.1023G>A (p.Val341=) c.681G>A (p.Val227=) n.853G>A n.365G>A n.247G>A c.825G>A (p.Val275=) c.-4294966147G>A c.699G>A (p.Val233=) c.627G>A (p.Val209=) | |
7 | g.139961981G>C | CA458115372 | TBXAS1 | c.882G>C (p.Val294=) c.*671G>C (n.*671G>C) c.1020G>C (p.Val340=) c.885G>C (p.Val295=) c.1023G>C (p.Val341=) c.681G>C (p.Val227=) n.853G>C n.365G>C n.247G>C c.825G>C (p.Val275=) c.-4294966147G>C c.699G>C (p.Val233=) c.627G>C (p.Val209=) | |
7 | g.139961981G>T | CA458115371 | TBXAS1 | c.882G>T (p.Val294=) c.*671G>T (n.*671G>T) c.1020G>T (p.Val340=) c.885G>T (p.Val295=) c.1023G>T (p.Val341=) c.681G>T (p.Val227=) n.853G>T n.365G>T n.247G>T c.825G>T (p.Val275=) c.-4294966147G>T c.699G>T (p.Val233=) c.627G>T (p.Val209=) | |
7 | g.139961982C>A | CA369584222 | TBXAS1 | c.883C>A (p.Gln295Lys) c.*672C>A (n.*672C>A) c.1021C>A (p.Gln341Lys) c.886C>A (p.Gln296Lys) c.1024C>A (p.Gln342Lys) c.682C>A (p.Gln228Lys) n.854C>A n.366C>A n.248C>A c.826C>A (p.Gln276Lys) c.-4294966146C>A c.700C>A (p.Gln234Lys) c.628C>A (p.Gln210Lys) | |
7 | g.139961982C>G | CA369584226 | TBXAS1 | c.883C>G (p.Gln295Glu) c.*672C>G (n.*672C>G) c.1021C>G (p.Gln341Glu) c.886C>G (p.Gln296Glu) c.1024C>G (p.Gln342Glu) c.682C>G (p.Gln228Glu) n.854C>G n.366C>G n.248C>G c.826C>G (p.Gln276Glu) c.-4294966146C>G c.700C>G (p.Gln234Glu) c.628C>G (p.Gln210Glu) | |
7 | g.139961982C>T | CA369584230 | TBXAS1 | c.883C>T (p.Gln295Ter) c.*672C>T (n.*672C>T) c.1021C>T (p.Gln341Ter) c.886C>T (p.Gln296Ter) c.1024C>T (p.Gln342Ter) c.682C>T (p.Gln228Ter) n.854C>T n.366C>T n.248C>T c.826C>T (p.Gln276Ter) c.-4294966146C>T c.700C>T (p.Gln234Ter) c.628C>T (p.Gln210Ter) | |
7 | g.139961983A>C | CA369584241 | TBXAS1 | c.884A>C (p.Gln295Pro) c.*673A>C (n.*673A>C) c.1022A>C (p.Gln341Pro) c.887A>C (p.Gln296Pro) c.1025A>C (p.Gln342Pro) c.683A>C (p.Gln228Pro) n.855A>C n.367A>C n.249A>C c.827A>C (p.Gln276Pro) c.-4294966145A>C c.701A>C (p.Gln234Pro) c.629A>C (p.Gln210Pro) | |
7 | g.139961983A>G | CA369584244 | TBXAS1 | c.884A>G (p.Gln295Arg) c.*673A>G (n.*673A>G) c.1022A>G (p.Gln341Arg) c.887A>G (p.Gln296Arg) c.1025A>G (p.Gln342Arg) c.683A>G (p.Gln228Arg) n.855A>G n.367A>G n.249A>G c.827A>G (p.Gln276Arg) c.-4294966145A>G c.701A>G (p.Gln234Arg) c.629A>G (p.Gln210Arg) | |
7 | g.139961983A>T | CA369584235 | TBXAS1 | c.884A>T (p.Gln295Leu) c.*673A>T (n.*673A>T) c.1022A>T (p.Gln341Leu) c.887A>T (p.Gln296Leu) c.1025A>T (p.Gln342Leu) c.683A>T (p.Gln228Leu) n.855A>T n.367A>T n.249A>T c.827A>T (p.Gln276Leu) c.-4294966145A>T c.701A>T (p.Gln234Leu) c.629A>T (p.Gln210Leu) | |
7 | g.139961984A>C | CA369584252 | TBXAS1 | c.885A>C (p.Gln295His) c.*674A>C (n.*674A>C) c.1023A>C (p.Gln341His) c.888A>C (p.Gln296His) c.1026A>C (p.Gln342His) c.684A>C (p.Gln228His) n.856A>C n.368A>C n.250A>C c.828A>C (p.Gln276His) c.-4294966144A>C c.702A>C (p.Gln234His) c.630A>C (p.Gln210His) | |
7 | g.139961984A>G | CA458115376 | TBXAS1 | c.885A>G (p.Gln295=) c.*674A>G (n.*674A>G) c.1023A>G (p.Gln341=) c.888A>G (p.Gln296=) c.1026A>G (p.Gln342=) c.684A>G (p.Gln228=) n.856A>G n.368A>G n.250A>G c.828A>G (p.Gln276=) c.-4294966144A>G c.702A>G (p.Gln234=) c.630A>G (p.Gln210=) | |
7 | g.139961984A>T | CA369584249 | TBXAS1 | c.885A>T (p.Gln295His) c.*674A>T (n.*674A>T) c.1023A>T (p.Gln341His) c.888A>T (p.Gln296His) c.1026A>T (p.Gln342His) c.684A>T (p.Gln228His) n.856A>T n.368A>T n.250A>T c.828A>T (p.Gln276His) c.-4294966144A>T c.702A>T (p.Gln234His) c.630A>T (p.Gln210His) | |
7 | g.139961985G>A | CA4511842 | TBXAS1 | c.886G>A (p.Asp296Asn) c.*675G>A (n.*675G>A) c.1024G>A (p.Asp342Asn) c.889G>A (p.Asp297Asn) c.1027G>A (p.Asp343Asn) c.685G>A (p.Asp229Asn) n.857G>A n.369G>A n.251G>A c.829G>A (p.Asp277Asn) c.-4294966143G>A c.703G>A (p.Asp235Asn) c.631G>A (p.Asp211Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139961985G>C | CA369584258 | TBXAS1 | c.886G>C (p.Asp296His) c.*675G>C (n.*675G>C) c.1024G>C (p.Asp342His) c.889G>C (p.Asp297His) c.1027G>C (p.Asp343His) c.685G>C (p.Asp229His) n.857G>C n.369G>C n.251G>C c.829G>C (p.Asp277His) c.-4294966143G>C c.703G>C (p.Asp235His) c.631G>C (p.Asp211His) | |
7 | g.139961985G= | CA1747341037 | TBXAS1 | c.886G= (p.Asp296=) c.*675G= (n.*675G=) c.1024G= (p.Asp342=) c.889G= (p.Asp297=) c.1027G= (p.Asp343=) c.685G= (p.Asp229=) n.857G= n.369G= n.251G= c.829G= (p.Asp277=) c.-4294966143G= c.703G= (p.Asp235=) c.631G= (p.Asp211=) | |
7 | g.139961985G>T | CA369584261 | TBXAS1 | c.886G>T (p.Asp296Tyr) c.*675G>T (n.*675G>T) c.1024G>T (p.Asp342Tyr) c.889G>T (p.Asp297Tyr) c.1027G>T (p.Asp343Tyr) c.685G>T (p.Asp229Tyr) n.857G>T n.369G>T n.251G>T c.829G>T (p.Asp277Tyr) c.-4294966143G>T c.703G>T (p.Asp235Tyr) c.631G>T (p.Asp211Tyr) | |
7 | g.139961986A= | CA1747341038 | TBXAS1 | c.887A= (p.Asp296=) c.*676A= (n.*676A=) c.1025A= (p.Asp342=) c.890A= (p.Asp297=) c.1028A= (p.Asp343=) c.686A= (p.Asp229=) n.858A= n.370A= n.252A= c.830A= (p.Asp277=) c.-4294966142A= c.704A= (p.Asp235=) c.632A= (p.Asp211=) | |
7 | g.139961986A>C | CA369584265 | TBXAS1 | c.887A>C (p.Asp296Ala) c.*676A>C (n.*676A>C) c.1025A>C (p.Asp342Ala) c.890A>C (p.Asp297Ala) c.1028A>C (p.Asp343Ala) c.686A>C (p.Asp229Ala) n.858A>C n.370A>C n.252A>C c.830A>C (p.Asp277Ala) c.-4294966142A>C c.704A>C (p.Asp235Ala) c.632A>C (p.Asp211Ala) | |
7 | g.139961986A>G | CA369584267 | TBXAS1 | c.887A>G (p.Asp296Gly) c.*676A>G (n.*676A>G) c.1025A>G (p.Asp342Gly) c.890A>G (p.Asp297Gly) c.1028A>G (p.Asp343Gly) c.686A>G (p.Asp229Gly) n.858A>G n.370A>G n.252A>G c.830A>G (p.Asp277Gly) c.-4294966142A>G c.704A>G (p.Asp235Gly) c.632A>G (p.Asp211Gly) | dbSNP |
7 | g.139961986A>T | CA369584271 | TBXAS1 | c.887A>T (p.Asp296Val) c.*676A>T (n.*676A>T) c.1025A>T (p.Asp342Val) c.890A>T (p.Asp297Val) c.1028A>T (p.Asp343Val) c.686A>T (p.Asp229Val) n.858A>T n.370A>T n.252A>T c.830A>T (p.Asp277Val) c.-4294966142A>T c.704A>T (p.Asp235Val) c.632A>T (p.Asp211Val) | |
7 | g.139961987C>A | CA369584273 | TBXAS1 | c.888C>A (p.Asp296Glu) c.*677C>A (n.*677C>A) c.1026C>A (p.Asp342Glu) c.891C>A (p.Asp297Glu) c.1029C>A (p.Asp343Glu) c.687C>A (p.Asp229Glu) n.859C>A n.371C>A n.253C>A c.831C>A (p.Asp277Glu) c.-4294966141C>A c.705C>A (p.Asp235Glu) c.633C>A (p.Asp211Glu) | |
7 | g.139961987C>G | CA369584276 | TBXAS1 | c.888C>G (p.Asp296Glu) c.*677C>G (n.*677C>G) c.1026C>G (p.Asp342Glu) c.891C>G (p.Asp297Glu) c.1029C>G (p.Asp343Glu) c.687C>G (p.Asp229Glu) n.859C>G n.371C>G n.253C>G c.831C>G (p.Asp277Glu) c.-4294966141C>G c.705C>G (p.Asp235Glu) c.633C>G (p.Asp211Glu) | |
7 | g.139961987C>T | CA458115377 | TBXAS1 | c.888C>T (p.Asp296=) c.*677C>T (n.*677C>T) c.1026C>T (p.Asp342=) c.891C>T (p.Asp297=) c.1029C>T (p.Asp343=) c.687C>T (p.Asp229=) n.859C>T n.371C>T n.253C>T c.831C>T (p.Asp277=) c.-4294966141C>T c.705C>T (p.Asp235=) c.633C>T (p.Asp211=) | |
7 | g.139961987_139961988insG | CA2579039958 | TBXAS1 | c.888_889insG (p.Phe297ValfsTer2) c.*677_*678insG (n.*677_*678insG) c.1026_1027insG (p.Phe343ValfsTer2) c.891_892insG (p.Phe298ValfsTer2) c.1029_1030insG (p.Phe344ValfsTer2) c.687_688insG (p.Phe230ValfsTer2) n.859_860insG n.371_372insG n.253_254insG c.831_832insG (p.Phe278ValfsTer2) c.-4294966141_-4294966140insG c.705_706insG (p.Phe236ValfsTer2) c.633_634insG (p.Phe212ValfsTer2) | |
7 | g.139961988T>A | CA369584280 | TBXAS1 | c.889T>A (p.Phe297Ile) c.*678T>A (n.*678T>A) c.1027T>A (p.Phe343Ile) c.892T>A (p.Phe298Ile) c.1030T>A (p.Phe344Ile) c.688T>A (p.Phe230Ile) n.860T>A n.372T>A n.254T>A c.832T>A (p.Phe278Ile) c.-4294966140T>A c.706T>A (p.Phe236Ile) c.634T>A (p.Phe212Ile) | |
7 | g.139961988T>C | CA369584283 | TBXAS1 | c.889T>C (p.Phe297Leu) c.*678T>C (n.*678T>C) c.1027T>C (p.Phe343Leu) c.892T>C (p.Phe298Leu) c.1030T>C (p.Phe344Leu) c.688T>C (p.Phe230Leu) n.860T>C n.372T>C n.254T>C c.832T>C (p.Phe278Leu) c.-4294966140T>C c.706T>C (p.Phe236Leu) c.634T>C (p.Phe212Leu) | |
7 | g.139961988T>G | CA369584285 | TBXAS1 | c.889T>G (p.Phe297Val) c.*678T>G (n.*678T>G) c.1027T>G (p.Phe343Val) c.892T>G (p.Phe298Val) c.1030T>G (p.Phe344Val) c.688T>G (p.Phe230Val) n.860T>G n.372T>G n.254T>G c.832T>G (p.Phe278Val) c.-4294966140T>G c.706T>G (p.Phe236Val) c.634T>G (p.Phe212Val) | |
7 | g.139961989T>A | CA369584288 | TBXAS1 | c.890T>A (p.Phe297Tyr) c.*679T>A (n.*679T>A) c.1028T>A (p.Phe343Tyr) c.893T>A (p.Phe298Tyr) c.1031T>A (p.Phe344Tyr) c.689T>A (p.Phe230Tyr) n.861T>A n.373T>A n.255T>A c.833T>A (p.Phe278Tyr) c.-4294966139T>A c.707T>A (p.Phe236Tyr) c.635T>A (p.Phe212Tyr) | |
7 | g.139961989T>C | CA369584293 | TBXAS1 | c.890T>C (p.Phe297Ser) c.*679T>C (n.*679T>C) c.1028T>C (p.Phe343Ser) c.893T>C (p.Phe298Ser) c.1031T>C (p.Phe344Ser) c.689T>C (p.Phe230Ser) n.861T>C n.373T>C n.255T>C c.833T>C (p.Phe278Ser) c.-4294966139T>C c.707T>C (p.Phe236Ser) c.635T>C (p.Phe212Ser) | gnomAD v4 |
7 | g.139961989T>G | CA369584296 | TBXAS1 | c.890T>G (p.Phe297Cys) c.*679T>G (n.*679T>G) c.1028T>G (p.Phe343Cys) c.893T>G (p.Phe298Cys) c.1031T>G (p.Phe344Cys) c.689T>G (p.Phe230Cys) n.861T>G n.373T>G n.255T>G c.833T>G (p.Phe278Cys) c.-4294966139T>G c.707T>G (p.Phe236Cys) c.635T>G (p.Phe212Cys) |