基因名 |
突变 |
ADCY6(NM_015270,adenylate cyclase 6,1168aa) |
g.12:49168506C>T,c.2134G>A,p.V712M |
ADCY6(NM_015270,adenylate cyclase 6,1168aa) |
g.12:49166315T>C,c.2633A>G,p.N878S |
ADCY6(NM_015270,adenylate cyclase 6,1168aa) |
g.12:49166197C>T,c.2668G>A,p.G890R |
ADCY6(NM_015270,adenylate cyclase 6,1168aa) |
g.12:49166127G>A,c.2738C>T,p.A913V |
ADCY6(NM_015270,adenylate cyclase 6,1168aa) |
g.12:49165657G>A,c.2887C>T,p.R963W |
ADCY6(NM_015270,adenylate cyclase 6,1168aa) |
g.12:49165648G>A,c.2896C>T,p.R966C |
ADCY6(NM_015270,adenylate cyclase 6,1168aa) |
g.12:49162439C>G,c.3442G>C,p.V1148L |
ADCY5(NM_183357,adenylate cyclase 5,1261aa) |
g.3:123167263G>A,c.130C>T,p.H44Y |
ADCY5(NM_183357,adenylate cyclase 5,1261aa) |
g.3:123167151G>A,c.242C>T,p.P81L |
ADCY5(NM_183357,adenylate cyclase 5,1261aa) |
g.3:123166416G>A,c.977C>T,p.S326F |
ADCY5(NM_183357,adenylate cyclase 5,1261aa) |
g.3:123046510C>G,c.1902G>C,p.E634D |
ADCY5(NM_183357,adenylate cyclase 5,1261aa) |
g.3:123044230_123044231insC,c.2026_2027insG,p.676fs |
ADCY5(NM_183357,adenylate cyclase 5,1261aa) |
g.3:123036874C>T,c.2347G>A,p.V783M |
ADCY5(NM_183357,adenylate cyclase 5,1261aa) |
g.3:123010034C>T,c.3253G>A,p.V1085I |
ADCY5(NM_183357,adenylate cyclase 5,1261aa) |
g.3:123003465G>A,c.3776C>T,p.P1259L |
ADCY4(NM_001198568,adenylate cyclase 4,1077aa) |
g.14:24803710G>A,c.149C>T,p.A50V |
ADCY4(NM_001198568,adenylate cyclase 4,1077aa) |
g.14:24800500C>T,c.732G>A,p.M244I |
ADCY4(NM_001198568,adenylate cyclase 4,1077aa) |
g.14:24800268G>T,c.886C>A,p.L296I |
ADCY4(NM_001198568,adenylate cyclase 4,1077aa) |
g.14:24799404C>T,c.1028G>A,p.R343H |
ADCY4(NM_001198568,adenylate cyclase 4,1077aa) |
g.14:24799164G>T,c.1119C>A,p.S373R |
ADCY4(NM_001198568,adenylate cyclase 4,1077aa) |
g.14:24799076C>T,c.1207G>A,p.G403S |
ADCY4(NM_001198568,adenylate cyclase 4,1077aa) |
g.14:24798433T>A,c.1358A>T,p.E453V |
ADCY4(NM_001198568,adenylate cyclase 4,1077aa) |
g.14:24795505C>T,c.1568G>A,p.R523Q |
ADCY4(NM_001198568,adenylate cyclase 4,1077aa) |
g.14:24795366C>T,c.1574G>A,p.R525H |
ADCY4(NM_001198568,adenylate cyclase 4,1077aa) |
g.14:24792197G>A,c.2255C>T,p.A752V |
ADCY4(NM_001198568,adenylate cyclase 4,1077aa) |
g.14:24792138G>A,c.2314C>T,p.R772C |
ADCY4(NM_001198568,adenylate cyclase 4,1077aa) |
g.14:24792132A>G,c.2320T>C,p.Y774H |
ADCY4(NM_001198568,adenylate cyclase 4,1077aa) |
g.14:24791283G>A,c.2575C>T,p.R859W |