|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
|
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)
|
rs28940868
|
0.00004
|
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
|
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
|
rs1393386120
|
0.00001
|
|
NM_000152.5(GAA):c.1020C>G (p.Tyr340Ter)
|
|
|
|
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)
|
rs776008078
|
|
|
NM_000152.5(GAA):c.1243_1244del (p.Thr415fs)
|
|
|
|
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu)
|
rs2039212985
|
|
|
NM_000152.5(GAA):c.1547G>A (p.Trp516Ter)
|
rs2039217093
|
|
|
NM_000152.5(GAA):c.1575_1576del (p.Ile526fs)
|
|
|
|
NM_000152.5(GAA):c.1814del (p.Gly605fs)
|
|
|
|
NM_000152.5(GAA):c.1966del (p.Glu656fs)
|
|
|
|
NM_000152.5(GAA):c.2088del (p.Lys697fs)
|
|
|
|
NM_000152.5(GAA):c.2130C>A (p.Tyr710Ter)
|
rs2039289942
|
|
|
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter)
|
rs1275298143
|
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
|
NM_000152.5(GAA):c.2319C>A (p.Tyr773Ter)
|
|
|
|
NM_000152.5(GAA):c.2345_2346insA (p.Leu783fs)
|
|
|
|
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)
|
rs886043882
|
|
|
NM_000152.5(GAA):c.2395del (p.His799fs)
|
|
|
|
NM_000152.5(GAA):c.2545A>T (p.Lys849Ter)
|
rs2039403673
|
|
|
NM_000152.5(GAA):c.2619C>A (p.Tyr873Ter)
|
rs1555603132
|
|
|
NM_000152.5(GAA):c.596_600delinsGTGT (p.His199fs)
|
|
|
|
NM_000152.5(GAA):c.725C>T (p.Ala242Val)
|
rs745861849
|
|
|
NM_000152.5(GAA):c.829_830del (p.Thr277fs)
|
|
|
|
NM_000152.5(GAA):c.904G>T (p.Glu302Ter)
|
rs2039131123
|
|
|
NM_000152.5(GAA):c.917C>A (p.Ser306Ter)
|
rs138097673
|
|