Genename |
Variants |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43292647A>G,c.1955A>G,p.K652R |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43292370C>T,c.1678C>T,p.R560C |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43292346T>C,c.1654T>C,p.S552P |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43292337G>A,c.1645G>A,p.A549T |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43292148C>T,c.1456C>T,p.R486W |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43291951T>G,c.1259T>G,p.M420R |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43291926A>G,c.1234A>G,p.M412V |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43287148G>A,c.710G>A,p.R237H |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43285946C>T,c.623C>T,p.T208M |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43281013T>C,c.260T>C,p.V87A |
BMS1(NM_014753,BMS1 ribosome biogenesis factor,1282aa) |
g.10:43279954C>T,c.112C>T,p.R38W |
BMPR2(NM_001204,bone morphogenetic protein receptor, type II (serine/threonine kinase),1038aa) |
g.2:203421044C>T,c.2656C>T,p.R886C |
BMPR2(NM_001204,bone morphogenetic protein receptor, type II (serine/threonine kinase),1038aa) |
g.2:203421006G>A,c.2618G>A,p.R873Q |
BMPR2(NM_001204,bone morphogenetic protein receptor, type II (serine/threonine kinase),1038aa) |
g.2:203420712G>A,c.2324G>A,p.S775N |
BMPR2(NM_001204,bone morphogenetic protein receptor, type II (serine/threonine kinase),1038aa) |
g.2:203417541A>G,c.1516A>G,p.M506V |
BMPR2(NM_001204,bone morphogenetic protein receptor, type II (serine/threonine kinase),1038aa) |
g.2:203417506C>T,c.1481C>T,p.A494V |
BMPR2(NM_001204,bone morphogenetic protein receptor, type II (serine/threonine kinase),1038aa) |
g.2:203395591G>A,c.1042G>A,p.V348I |
BMPR2(NM_001204,bone morphogenetic protein receptor, type II (serine/threonine kinase),1038aa) |
g.2:203383693T>C,c.770T>C,p.I257T |
BMPR2(NM_001204,bone morphogenetic protein receptor, type II (serine/threonine kinase),1038aa) |
g.2:203332270A>C,c.276A>C,p.Q92H |
BMPR1B(NM_001203,bone morphogenetic protein receptor, type IB,502aa) |
g.4:96073908G>A,c.1367G>A,p.R456Q |
BMPR1B(NM_001203,bone morphogenetic protein receptor, type IB,502aa) |
g.4:96073881A>G,c.1340A>G,p.K447R |
BMPR1B(NM_001203,bone morphogenetic protein receptor, type IB,502aa) |
g.4:96070061A>T,c.1239A>T,p.R413S |
BMPR1B(NM_001203,bone morphogenetic protein receptor, type IB,502aa) |
g.4:96069934G>A,c.1112G>A,p.R371Q |
BMPR1B(NM_001203,bone morphogenetic protein receptor, type IB,502aa) |
g.4:96052488A>G,c.901A>G,p.M301V |
BMPR1B(NM_001203,bone morphogenetic protein receptor, type IB,502aa) |
g.4:96051196A>G,c.769A>G,p.N257D |
BMPR1B(NM_001203,bone morphogenetic protein receptor, type IB,502aa) |
g.4:96051098G>A,c.671G>A,p.R224H |
BMPR1B(NM_001203,bone morphogenetic protein receptor, type IB,502aa) |
g.4:96045056C>T,c.445C>T,p.R149W |
BMPR1B(NM_001203,bone morphogenetic protein receptor, type IB,502aa) |
g.4:96025667G>A,c.92G>A,p.R31H |