Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.139961892G>ACA2685190561TBXAS1c.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
7g.139961894G>ACA4511825TBXAS1c.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
7g.139961894G>CCA4511826TBXAS1c.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
7g.139961894G=CA1747340992TBXAS1c.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=)
7g.139961894G>TCA2685190562TBXAS1c.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
7g.139961895C>ACA2579039955TBXAS1c.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
7g.139961895C=CA1747340993TBXAS1c.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=)
7g.139961895C>TCA4511827TBXAS1c.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
7g.139961896A=CA1747340994TBXAS1c.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=)
7g.139961896A>CCA578624648TBXAS1c.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
7g.139961896A>GCA2685190563TBXAS1c.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
7g.139961896A>TCA1747340995TBXAS1c.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
7g.139961901dupCA2778140909TBXAS1c.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)
7g.139961899T>CCA2685190564TBXAS1c.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
7g.139961901T>CCA578624649TBXAS1c.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
7g.139961901T=CA1747340996TBXAS1c.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=)
7g.139961902C>ACA2685190565TBXAS1c.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
7g.139961902C>TCA2579039956TBXAS1c.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
7g.139961908T>GCA1747340998TBXAS1c.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
7g.139961908T=CA1747340997TBXAS1c.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=)
7g.139961909T>CCA1747341000TBXAS1c.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
7g.139961909T=CA1747340999TBXAS1c.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=)
7g.139961911T>CCA578624650TBXAS1c.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
7g.139961911T=CA1747341001TBXAS1c.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=)
7g.139961912T>GCA2579039957TBXAS1c.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)
7g.139961913C>ACA578624651TBXAS1c.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
7g.139961913C=CA1747341002TBXAS1c.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=)
7g.139961913C>TCA2605000087TBXAS1c.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
7g.139961917A>CCA369583805TBXAS1c.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)
7g.139961917A>GCA369583800TBXAS1c.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
7g.139961917A>TCA369583803TBXAS1c.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)
7g.139961918G>ACA369583808TBXAS1c.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)
7g.139961918G>CCA369583811TBXAS1c.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
7g.139961918G>TCA369583814TBXAS1c.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)
7g.139961919A>CCA458115303TBXAS1c.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=)
7g.139961919A>GCA369583817TBXAS1c.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)
7g.139961919A>TCA369583819TBXAS1c.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)
7g.139961920G>ACA369583822TBXAS1c.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)
7g.139961920G>CCA369583824TBXAS1c.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)
7g.139961920G>TCA369583828TBXAS1c.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)
7g.139961921G>ACA458115304TBXAS1c.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
7g.139961921G>CCA369583831TBXAS1c.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)
7g.139961921G=CA1747341003TBXAS1c.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=)
7g.139961921G>TCA369583833TBXAS1c.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)
7g.139961922C>ACA458115305TBXAS1c.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
7g.139961922C=CA1747341004TBXAS1c.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=)
7g.139961922C>GCA369583837TBXAS1c.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)
7g.139961922C>TCA4511828TBXAS1c.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
7g.139961923G>ACA4511829TBXAS1c.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
7g.139961923G>CCA369583842TBXAS1c.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
7g.139961923G=CA1747341005TBXAS1c.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=)
7g.139961923G>TCA369583844TBXAS1c.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)
7g.139961924G>ACA458115306TBXAS1c.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
7g.139961924G>CCA458115308TBXAS1c.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
7g.139961924G=CA1747341006TBXAS1c.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=)
7g.139961924G>TCA458115307TBXAS1c.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=)
7g.139961925A>CCA458115309TBXAS1c.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=)
7g.139961925A>GCA369583848TBXAS1c.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
7g.139961925A>TCA369583852TBXAS1c.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)
7g.139961926G>ACA369583858TBXAS1c.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
7g.139961926G>CCA369583861TBXAS1c.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
7g.139961926G=CA1747341007TBXAS1c.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=)
7g.139961926G>TCA369583865TBXAS1c.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
7g.139961927A>CCA369583870TBXAS1c.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)
7g.139961927A>GCA458115310TBXAS1c.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=)
7g.139961927A>TCA369583872TBXAS1c.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)
7g.139961928G>ACA4511830TBXAS1c.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
7g.139961928G>CCA369583878TBXAS1c.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)
7g.139961928G=CA1747341008TBXAS1c.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=)
7g.139961928G>TCA369583882TBXAS1c.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)
7g.139961929A>CCA369583889TBXAS1c.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)
7g.139961929A>GCA369583894TBXAS1c.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
7g.139961929A>TCA369583887TBXAS1c.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)
7g.139961930C>ACA369583897TBXAS1c.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
7g.139961930C=CA1747341009TBXAS1c.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=)
7g.139961930C>GCA369583901TBXAS1c.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)
7g.139961930C>TCA458115315TBXAS1c.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=)
7g.139961931T>ACA369583905TBXAS1c.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)
7g.139961931T>CCA369583907TBXAS1c.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)
7g.139961931T>GCA369583918TBXAS1c.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)
7g.139961932T>ACA369583923TBXAS1c.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)
7g.139961932T>CCA369583925TBXAS1c.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
7g.139961932T>GCA369583927TBXAS1c.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)
7g.139961932T=CA1747341010TBXAS1c.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=)
7g.139961933C>ACA369583930TBXAS1c.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)
7g.139961933C>GCA369583931TBXAS1c.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)
7g.139961933C>TCA458115317TBXAS1c.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
7g.139961934C>ACA369583934TBXAS1c.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)
7g.139961934C>GCA369583936TBXAS1c.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)
7g.139961934C>TCA369583938TBXAS1c.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)
7g.139961935T>ACA369583944TBXAS1c.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)
7g.139961935T>CCA369583943TBXAS1c.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)
7g.139961935T>GCA369583940TBXAS1c.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)
7g.139961936C>ACA458115318TBXAS1c.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=)
7g.139961936C=CA1747341011TBXAS1c.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=)
7g.139961936C>GCA458115319TBXAS1c.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=)
7g.139961936C>TCA458115320TBXAS1c.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
7g.139961937C>ACA369583946TBXAS1c.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)
7g.139961937C>GCA369583948TBXAS1c.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)
7g.139961937C>TCA369583949TBXAS1c.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)
7g.139961938A>CCA369583951TBXAS1c.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)
7g.139961938A>GCA369583953TBXAS1c.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)
7g.139961938A>TCA369583954TBXAS1c.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)
7g.139961939A=CA1747341012TBXAS1c.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=)
7g.139961939A>CCA369583957TBXAS1c.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)
7g.139961939A>GCA458115321TBXAS1c.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
7g.139961939A>TCA369583959TBXAS1c.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)
7g.139961940A=CA1747341013TBXAS1c.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=)
7g.139961940A>CCA369583961TBXAS1c.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)
7g.139961940A>GCA369583963TBXAS1c.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
7g.139961940A>TCA369583964TBXAS1c.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)
7g.139961941T>ACA369583966TBXAS1c.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)
7g.139961941T>CCA369583968TBXAS1c.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
7g.139961941T>GCA369583971TBXAS1c.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)
7g.139961942G>ACA369583975TBXAS1c.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)
7g.139961942G>CCA369583977TBXAS1c.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)
7g.139961942G=CA1747341014TBXAS1c.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=)
7g.139961942G>TCA369583973TBXAS1c.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
7g.139961943G>ACA369583979TBXAS1c.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)
7g.139961943G>CCA167953439TBXAS1c.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
7g.139961943G=CA1747341015TBXAS1c.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=)
7g.139961943G>TCA369583982TBXAS1c.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)
7g.139961944T>ACA369583985TBXAS1c.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)
7g.139961944T>CCA369583986TBXAS1c.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
7g.139961944T>GCA369583988TBXAS1c.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)
7g.139961945C>ACA458115326TBXAS1c.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=)
7g.139961945C>GCA458115327TBXAS1c.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=)
7g.139961945C>TCA458115328TBXAS1c.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=)
7g.139961946C>ACA369583992TBXAS1c.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)
7g.139961946C>GCA369583990TBXAS1c.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)
7g.139961946C>TCA458115330TBXAS1c.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=)
7g.139961947T>ACA369583994TBXAS1c.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)
7g.139961947T>CCA167953440TBXAS1c.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
7g.139961947T>GCA369583997TBXAS1c.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
7g.139961947T=CA1747341016TBXAS1c.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=)
7g.139961948G>ACA458115331TBXAS1c.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=)
7g.139961948G>CCA458115332TBXAS1c.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=)
7g.139961948G>TCA458115333TBXAS1c.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
7g.139961949G>ACA4511831TBXAS1c.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
7g.139961949G>CCA369584000TBXAS1c.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)
7g.139961949G=CA1747341017TBXAS1c.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=)
7g.139961949G>TCA369584002TBXAS1c.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)
7g.139961950A>CCA369584005TBXAS1c.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)
7g.139961950A>GCA369584010TBXAS1c.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)
7g.139961950A>TCA369584007TBXAS1c.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)
7g.139961950dupCA2501845623TBXAS1c.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)
7g.139961951T>ACA369584012TBXAS1c.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
7g.139961951T>CCA458115337TBXAS1c.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=)
7g.139961951T>GCA369584014TBXAS1c.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
7g.139961952G>ACA369584015TBXAS1c.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)
7g.139961952G>CCA369584017TBXAS1c.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
7g.139961952G=CA1747341018TBXAS1c.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=)
7g.139961952G>TCA369584019TBXAS1c.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)
7g.139961953C>ACA369584021TBXAS1c.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)
7g.139961953C>GCA369584023TBXAS1c.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)
7g.139961953C>TCA369584025TBXAS1c.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)
7g.139961954C>ACA458115339TBXAS1c.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=)
7g.139961954C=CA1747341019TBXAS1c.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=)
7g.139961954C>GCA167953441TBXAS1c.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
7g.139961954C>TCA458115338TBXAS1c.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=)
7g.139961955C>ACA458115340TBXAS1c.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=)
7g.139961955C=CA1747341020TBXAS1c.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=)
7g.139961955C>GCA369584028TBXAS1c.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
7g.139961955C>TCA4511832TBXAS1c.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
7g.139961956G>ACA4511833TBXAS1c.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
7g.139961956G>CCA369584035TBXAS1c.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)
7g.139961956G=CA1747341021TBXAS1c.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=)
7g.139961956G>TCA369584032TBXAS1c.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)
7g.139961957A>CCA458115341TBXAS1c.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=)
7g.139961957A>GCA458115342TBXAS1c.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=)
7g.139961957A>TCA458115343TBXAS1c.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=)
7g.139961958C>ACA369584037TBXAS1c.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)
7g.139961958C=CA1747341022TBXAS1c.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=)
7g.139961958C>GCA369584041TBXAS1c.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)
7g.139961958C>TCA369584039TBXAS1c.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
7g.139961959A>CCA369584043TBXAS1c.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)
7g.139961959A>GCA369584044TBXAS1c.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)
7g.139961959A>TCA369584046TBXAS1c.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)
7g.139961960T>ACA369584048TBXAS1c.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)
7g.139961960T>CCA458115345TBXAS1c.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=)
7g.139961960T>GCA369584051TBXAS1c.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)
7g.139961961T>ACA369584056TBXAS1c.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)
7g.139961961T>CCA369584058TBXAS1c.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)
7g.139961961T>GCA369584061TBXAS1c.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)
7g.139961962C>ACA369584067TBXAS1c.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)
7g.139961962C=CA1747341023TBXAS1c.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=)
7g.139961962C>GCA369584069TBXAS1c.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
7g.139961962C>TCA369584073TBXAS1c.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
7g.139961963T>ACA458115352TBXAS1c.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=)
7g.139961963T>CCA458115351TBXAS1c.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=)
7g.139961963T>GCA458115350TBXAS1c.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=)
7g.139961963T=CA1747341024TBXAS1c.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=)
7g.139961963_139961964insCCA1747341025TBXAS1c.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
7g.139961964G>ACA369584080TBXAS1c.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
7g.139961964G>CCA369584076TBXAS1c.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)
7g.139961964G=CA1747341026TBXAS1c.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=)
7g.139961964G>TCA369584077TBXAS1c.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
7g.139961965C>ACA369584083TBXAS1c.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)
7g.139961965C>GCA369584086TBXAS1c.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)
7g.139961965C>TCA369584088TBXAS1c.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)
7g.139961965dupCA2685190566TBXAS1c.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
7g.139961966A>CCA458115354TBXAS1c.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=)
7g.139961966A>GCA458115356TBXAS1c.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=)
7g.139961966A>TCA458115355TBXAS1c.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=)
7g.139961967A>CCA369584092TBXAS1c.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)
7g.139961967A>GCA369584095TBXAS1c.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)
7g.139961967A>TCA369584098TBXAS1c.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)
7g.139961968G>ACA369584104TBXAS1c.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
7g.139961968G>CCA369584106TBXAS1c.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
7g.139961968G>TCA369584111TBXAS1c.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)
7g.139961969T>ACA369584114TBXAS1c.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)
7g.139961969T>CCA458115358TBXAS1c.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
7g.139961969T>GCA369584117TBXAS1c.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)
7g.139961970C>ACA369584126TBXAS1c.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)
7g.139961970C=CA1747341027TBXAS1c.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=)
7g.139961970C>GCA369584130TBXAS1c.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)
7g.139961970C>TCA369584121TBXAS1c.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
7g.139961971C>ACA369584134TBXAS1c.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)
7g.139961971C>GCA369584137TBXAS1c.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)
7g.139961971C>TCA369584139TBXAS1c.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)
7g.139961972C>ACA458115361TBXAS1c.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=)
7g.139961972C>GCA458115363TBXAS1c.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=)
7g.139961972C>TCA458115364TBXAS1c.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=)
7g.139961973A=CA1747341028TBXAS1c.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=)
7g.139961973A>CCA369584146TBXAS1c.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)
7g.139961973A>GCA369584149TBXAS1c.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
7g.139961973A>TCA369584152TBXAS1c.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)
7g.139961974T>ACA369584157TBXAS1c.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)
7g.139961974T>CCA4511834TBXAS1c.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
7g.139961974T>GCA369584161TBXAS1c.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)
7g.139961974T=CA1747341029TBXAS1c.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=)
7g.139961975G>ACA4511835TBXAS1c.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
7g.139961975G>CCA369584169TBXAS1c.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)
7g.139961975G=CA1747341030TBXAS1c.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=)
7g.139961975G>TCA369584173TBXAS1c.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)
7g.139961976G>ACA369584179TBXAS1c.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)
7g.139961976G>CCA4511836TBXAS1c.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
7g.139961976G=CA1747341031TBXAS1c.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=)
7g.139961976G>TCA369584176TBXAS1c.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)
7g.139961977G>ACA4511837TBXAS1c.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
7g.139961977G>CCA369584190TBXAS1c.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)
7g.139961977G=CA1747341032TBXAS1c.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=)
7g.139961977G>TCA369584193TBXAS1c.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
7g.139961977_139961995delinsGCGTGCAAGACTTTGACATCA1747341033TBXAS1c.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=)
7g.139961978C>ACA4511839TBXAS1c.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
7g.139961978C=CA1747341034TBXAS1c.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=)
7g.139961978C>GCA458115368TBXAS1c.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
7g.139961978C>TCA4511838TBXAS1c.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
7g.139961981_139961998delCA1747341035TBXAS1c.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
7g.139961979G>ACA4511840TBXAS1c.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
7g.139961979G>CCA369584204TBXAS1c.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)
7g.139961979G=CA1747341036TBXAS1c.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=)
7g.139961979G>TCA4511841TBXAS1c.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
7g.139961980T>ACA369584212TBXAS1c.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)
7g.139961980T>CCA369584214TBXAS1c.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)
7g.139961980T>GCA369584218TBXAS1c.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)
7g.139961981G>ACA458115370TBXAS1c.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=)
7g.139961981G>CCA458115372TBXAS1c.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=)
7g.139961981G>TCA458115371TBXAS1c.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=)
7g.139961982C>ACA369584222TBXAS1c.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)
7g.139961982C>GCA369584226TBXAS1c.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)
7g.139961982C>TCA369584230TBXAS1c.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)
7g.139961983A>CCA369584241TBXAS1c.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)
7g.139961983A>GCA369584244TBXAS1c.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)
7g.139961983A>TCA369584235TBXAS1c.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)
7g.139961984A>CCA369584252TBXAS1c.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)
7g.139961984A>GCA458115376TBXAS1c.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=)
7g.139961984A>TCA369584249TBXAS1c.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)
7g.139961985G>ACA4511842TBXAS1c.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
7g.139961985G>CCA369584258TBXAS1c.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)
7g.139961985G=CA1747341037TBXAS1c.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=)
7g.139961985G>TCA369584261TBXAS1c.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)
7g.139961986A=CA1747341038TBXAS1c.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=)
7g.139961986A>CCA369584265TBXAS1c.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)
7g.139961986A>GCA369584267TBXAS1c.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
7g.139961986A>TCA369584271TBXAS1c.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)
7g.139961987C>ACA369584273TBXAS1c.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)
7g.139961987C>GCA369584276TBXAS1c.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)
7g.139961987C>TCA458115377TBXAS1c.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=)
7g.139961987_139961988insGCA2579039958TBXAS1c.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)
7g.139961988T>ACA369584280TBXAS1c.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)
7g.139961988T>CCA369584283TBXAS1c.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)
7g.139961988T>GCA369584285TBXAS1c.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)
7g.139961989T>ACA369584288TBXAS1c.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)
7g.139961989T>CCA369584293TBXAS1c.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
7g.139961989T>GCA369584296TBXAS1c.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)
7g.139961990T>ACA369584300TBXAS1c.891T>A (p.Phe297Leu)
c.*680T>A (n.*680T>A)
c.1029T>A (p.Phe343Leu)
c.894T>A (p.Phe298Leu)
c.1032T>A (p.Phe344Leu)
c.690T>A (p.Phe230Leu)
n.862T>A
n.374T>A
n.256T>A
c.834T>A (p.Phe278Leu)
c.-4294966138T>A
c.708T>A (p.Phe236Leu)
c.636T>A (p.Phe212Leu)
7g.139961990T>CCA458115379TBXAS1c.891T>C (p.Phe297=)
c.*680T>C (n.*680T>C)
c.1029T>C (p.Phe343=)
c.894T>C (p.Phe298=)
c.1032T>C (p.Phe344=)
c.690T>C (p.Phe230=)
n.862T>C
n.374T>C
n.256T>C
c.834T>C (p.Phe278=)
c.-4294966138T>C
c.708T>C (p.Phe236=)
c.636T>C (p.Phe212=)
7g.139961990T>GCA369584303TBXAS1c.891T>G (p.Phe297Leu)
c.*680T>G (n.*680T>G)
c.1029T>G (p.Phe343Leu)
c.894T>G (p.Phe298Leu)
c.1032T>G (p.Phe344Leu)
c.690T>G (p.Phe230Leu)
n.862T>G
n.374T>G
n.256T>G
c.834T>G (p.Phe278Leu)
c.-4294966138T>G
c.708T>G (p.Phe236Leu)
c.636T>G (p.Phe212Leu)
7g.139961990_139961996delinsTGACATCCA1747341039TBXAS1c.891_897delinsTGACATC (p.Phe297=)
c.*680_*686delinsTGACATC (n.*680_*686delinsTGACATC)
c.1029_1035delinsTGACATC (p.Phe343=)
c.894_900delinsTGACATC (p.Phe298=)
c.1032_1038delinsTGACATC (p.Phe344=)
c.690_696delinsTGACATC (p.Phe230=)
n.862_868delinsTGACATC
n.374_380delinsTGACATC
n.256_262delinsTGACATC
c.834_840delinsTGACATC (p.Phe278=)
c.-4294966138_-4294966132delinsTGACATC
c.708_714delinsTGACATC (p.Phe236=)
c.636_642delinsTGACATC (p.Phe212=)
7g.139961991G>ACA369584309TBXAS1c.892G>A (p.Asp298Asn)
c.*681G>A (n.*681G>A)
c.1030G>A (p.Asp344Asn)
c.895G>A (p.Asp299Asn)
c.1033G>A (p.Asp345Asn)
c.691G>A (p.Asp231Asn)
n.863G>A
n.375G>A
n.257G>A
c.835G>A (p.Asp279Asn)
c.-4294966137G>A
c.709G>A (p.Asp237Asn)
c.637G>A (p.Asp213Asn)
7g.139961991G>CCA369584313TBXAS1c.892G>C (p.Asp298His)
c.*681G>C (n.*681G>C)
c.1030G>C (p.Asp344His)
c.895G>C (p.Asp299His)
c.1033G>C (p.Asp345His)
c.691G>C (p.Asp231His)
n.863G>C
n.375G>C
n.257G>C
c.835G>C (p.Asp279His)
c.-4294966137G>C
c.709G>C (p.Asp237His)
c.637G>C (p.Asp213His)
7g.139961991G>TCA369584316TBXAS1c.892G>T (p.Asp298Tyr)
c.*681G>T (n.*681G>T)
c.1030G>T (p.Asp344Tyr)
c.895G>T (p.Asp299Tyr)
c.1033G>T (p.Asp345Tyr)
c.691G>T (p.Asp231Tyr)
n.863G>T
n.375G>T
n.257G>T
c.835G>T (p.Asp279Tyr)
c.-4294966137G>T
c.709G>T (p.Asp237Tyr)
c.637G>T (p.Asp213Tyr)
7g.139961992_139961997delCA16042663TBXAS1c.893_898del (p.Asp298_Ile299del)
c.*682_*687del (n.*682_*687del)
c.1031_1036del (p.Asp344_Ile345del)
c.896_901del (p.Asp299_Ile300del)
c.1034_1039del (p.Asp345_Ile346del)
c.692_697del (p.Asp231_Ile232del)
n.864_869del
n.376_381del
n.258_263del
c.836_841del (p.Asp279_Ile280del)
c.-4294966136_-4294966131del
c.710_715del (p.Asp237_Ile238del)
c.638_643del (p.Asp213_Ile214del)
 ClinVar dbSNP
7g.139961992A>CCA369584321TBXAS1c.893A>C (p.Asp298Ala)
c.*682A>C (n.*682A>C)
c.1031A>C (p.Asp344Ala)
c.896A>C (p.Asp299Ala)
c.1034A>C (p.Asp345Ala)
c.692A>C (p.Asp231Ala)
n.864A>C
n.376A>C
n.258A>C
c.836A>C (p.Asp279Ala)
c.-4294966136A>C
c.710A>C (p.Asp237Ala)
c.638A>C (p.Asp213Ala)
7g.139961992A>GCA369584324TBXAS1c.893A>G (p.Asp298Gly)
c.*682A>G (n.*682A>G)
c.1031A>G (p.Asp344Gly)
c.896A>G (p.Asp299Gly)
c.1034A>G (p.Asp345Gly)
c.692A>G (p.Asp231Gly)
n.864A>G
n.376A>G
n.258A>G
c.836A>G (p.Asp279Gly)
c.-4294966136A>G
c.710A>G (p.Asp237Gly)
c.638A>G (p.Asp213Gly)
7g.139961992A>TCA369584327TBXAS1c.893A>T (p.Asp298Val)
c.*682A>T (n.*682A>T)
c.1031A>T (p.Asp344Val)
c.896A>T (p.Asp299Val)
c.1034A>T (p.Asp345Val)
c.692A>T (p.Asp231Val)
n.864A>T
n.376A>T
n.258A>T
c.836A>T (p.Asp279Val)
c.-4294966136A>T
c.710A>T (p.Asp237Val)
c.638A>T (p.Asp213Val)

Number of alleles fetched