Genename |
Variants |
BNC1(NM_001717,basonuclin 1,994aa) |
g.15:83932960T>C,c.1043A>G,p.N348S |
BNC1(NM_001717,basonuclin 1,994aa) |
g.15:83932835C>T,c.1168G>A,p.E390K |
BNC1(NM_001717,basonuclin 1,994aa) |
g.15:83932427C>T,c.1576G>A,p.E526K |
BNC1(NM_001717,basonuclin 1,994aa) |
g.15:83932408A>G,c.1595T>C,p.L532P |
BNC1(NM_001717,basonuclin 1,994aa) |
g.15:83932279T>A,c.1724A>T,p.D575V |
BNC1(NM_001717,basonuclin 1,994aa) |
g.15:83932182C>A,c.1821G>T,p.R607S |
BNC1(NM_001717,basonuclin 1,994aa) |
g.15:83932042T>C,c.1961A>G,p.H654R |
BNC1(NM_001717,basonuclin 1,994aa) |
g.15:83932037G>A,c.1966C>T,p.H656Y |
BNC1(NM_001717,basonuclin 1,994aa) |
g.15:83931890G>C,c.2113C>G,p.H705D |
BNC1(NM_001717,basonuclin 1,994aa) |
g.15:83931887C>T,c.2116G>A,p.V706M |
BNC1(NM_001717,basonuclin 1,994aa) |
g.15:83926820T>C,c.2359A>G,p.S787G |
BNC1(NM_001717,basonuclin 1,994aa) |
g.15:83926805G>A,c.2374C>T,p.R792C |
BNC1(NM_001717,basonuclin 1,994aa) |
g.15:83926554G>C,c.2625C>G,p.D875E |
BMX(NM_203281,BMX non-receptor tyrosine kinase,675aa) |
g.X:15565040_15565041insT,c.1791_1792insT,p.597fs |
BMX(NM_203281,BMX non-receptor tyrosine kinase,675aa) |
g.X:15544185C>T,c.851C>T,p.S284L |
BMX(NM_203281,BMX non-receptor tyrosine kinase,675aa) |
g.X:15540599C>T,c.641C>T,p.A214V |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43326351G>C,c.3656G>C,p.S1219T |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43326348A>G,c.3653A>G,p.H1218R |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43319197G>A,c.3421G>A,p.V1141I |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43319164C>T,c.3388C>T,p.R1130W |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43318659C>T,c.3226C>T,p.R1076X |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43318574T>G,c.3141T>G,p.F1047L |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43317520G>A,c.3020G>A,p.R1007Q |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43315960G>A,c.2774G>A,p.R925H |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43315864T>C,c.2761T>C,p.Y921H |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43315693G>A,c.2590G>A,p.A864T |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43312058G>T,c.2341G>T,p.G781C |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43297639G>A,c.2302G>A,p.D768N |