NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_172250.3(MMAA):c.658G>A (p.Val220Met)
|
rs150376474
|
0.00003
|
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)
|
rs864309726
|
0.00002
|
NM_172250.3(MMAA):c.1084C>T (p.Gln362Ter)
|
rs1560802980
|
0.00001
|
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)
|
rs1328584680
|
0.00001
|
NM_172250.3(MMAA):c.365T>C (p.Leu122Pro)
|
rs760875006
|
0.00001
|
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)
|
rs200577967
|
0.00001
|
NM_172250.3(MMAA):c.733+1G>A
|
rs779939886
|
0.00001
|
NM_172250.3(MMAA):c.1042del (p.Asp347_Leu348insTer)
|
|
|
NM_172250.3(MMAA):c.1098G>A (p.Trp366Ter)
|
|
|
NM_172250.3(MMAA):c.1114del (p.Gln372fs)
|
rs765726949
|
|
NM_172250.3(MMAA):c.112del (p.Ile38fs)
|
|
|
NM_172250.3(MMAA):c.1145del (p.His382fs)
|
|
|
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)
|
rs758345818
|
|
NM_172250.3(MMAA):c.15_16del (p.Pro6fs)
|
rs1553957862
|
|
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)
|
rs864309725
|
|
NM_172250.3(MMAA):c.188_189del (p.Arg63fs)
|
|
|
NM_172250.3(MMAA):c.1A>G (p.Met1Val)
|
rs1553957856
|
|
NM_172250.3(MMAA):c.206del (p.Thr69fs)
|
rs1553957901
|
|
NM_172250.3(MMAA):c.255del (p.Phe85fs)
|
|
|
NM_172250.3(MMAA):c.298_312del (p.Cys100_Ala104del)
|
rs780082584
|
|
NM_172250.3(MMAA):c.302T>G (p.Leu101Ter)
|
|
|
NM_172250.3(MMAA):c.405del (p.Gln135fs)
|
|
|
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)
|
rs1553957931
|
|
NM_172250.3(MMAA):c.420_422delinsTGTGATT (p.Lys140fs)
|
|
|
NM_172250.3(MMAA):c.439+1G>A
|
rs1553957938
|
|
NM_172250.3(MMAA):c.439+4_439+7del
|
rs1553957939
|
|
NM_172250.3(MMAA):c.440-2A>G
|
|
|
NM_172250.3(MMAA):c.490G>T (p.Gly164Ter)
|
|
|
NM_172250.3(MMAA):c.493A>T (p.Lys165Ter)
|
|
|
NM_172250.3(MMAA):c.496del (p.Met166fs)
|
|
|
NM_172250.3(MMAA):c.50T>A (p.Leu17Ter)
|
|
|
NM_172250.3(MMAA):c.523dup (p.Ser175fs)
|
|
|
NM_172250.3(MMAA):c.552T>A (p.Cys184Ter)
|
rs1727814966
|
|
NM_172250.3(MMAA):c.562+1G>A
|
rs869320656
|
|
NM_172250.3(MMAA):c.562+1G>T
|
rs869320656
|
|
NM_172250.3(MMAA):c.562+2T>C
|
|
|
NM_172250.3(MMAA):c.562G>C (p.Gly188Arg)
|
rs864309729
|
|
NM_172250.3(MMAA):c.594dup (p.Glu199Ter)
|
rs1553958395
|
|
NM_172250.3(MMAA):c.601_602del (p.Ser201fs)
|
|
|
NM_172250.3(MMAA):c.601del (p.Ser201fs)
|
|
|
NM_172250.3(MMAA):c.636delinsAGG (p.Thr213fs)
|
|
|
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)
|
rs140356252
|
|
NM_172250.3(MMAA):c.659T>C (p.Val220Ala)
|
rs941689476
|
|
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly)
|
rs920825350
|
|
NM_172250.3(MMAA):c.708T>A (p.Tyr236Ter)
|
|
|
NM_172250.3(MMAA):c.708dup (p.Asp237Ter)
|
|
|
NM_172250.3(MMAA):c.733+1G>T
|
|
|
NM_172250.3(MMAA):c.746_762dup (p.Asp255fs)
|
|
|
NM_172250.3(MMAA):c.785T>A (p.Leu262Ter)
|
|
|
NM_172250.3(MMAA):c.812_813dup (p.Leu272fs)
|
rs1553958720
|
|
NM_172250.3(MMAA):c.820-1G>C
|
rs1553959017
|
|
NM_172250.3(MMAA):c.820-2A>G
|
|
|
NM_172250.3(MMAA):c.832G>A (p.Gly278Ser)
|
|
|
NM_172250.3(MMAA):c.936dup (p.Leu313fs)
|
|
|
NM_172250.3(MMAA):c.952C>T (p.Gln318Ter)
|
rs751717131
|
|
NM_172250.3(MMAA):c.963_969+4del
|
|
|