NM_139058.3(ARX):c.447G>C (p.Ala149=)
|
rs745705522
|
0.00069
|
NM_139058.3(ARX):c.336A>G (p.Ala112=)
|
rs794727308
|
0.00022
|
NM_139058.3(ARX):c.303A>G (p.Ala101=)
|
rs797045295
|
0.00008
|
NM_139058.3(ARX):c.327G>A (p.Ala109=)
|
rs1340239089
|
0.00003
|
NM_139058.3(ARX):c.455C>G (p.Ala152Gly)
|
rs1184388194
|
0.00003
|
NM_139058.3(ARX):c.300G>A (p.Ala100=)
|
rs797045294
|
0.00002
|
NM_139058.3(ARX):c.306G>T (p.Ala102=)
|
rs587783196
|
0.00002
|
NM_139058.3(ARX):c.361C>A (p.Pro121Thr)
|
rs1308958274
|
0.00002
|
NM_139058.3(ARX):c.418G>T (p.Asp140Tyr)
|
rs888222904
|
0.00002
|
NM_139058.3(ARX):c.440C>T (p.Ala147Val)
|
rs1048593315
|
0.00002
|
NM_139058.3(ARX):c.450C>A (p.Ala150=)
|
rs1410039382
|
0.00002
|
NM_139058.3(ARX):c.318G>C (p.Ala106=)
|
rs997762920
|
0.00001
|
NM_139058.3(ARX):c.330G>C (p.Ala110=)
|
rs1416343691
|
0.00001
|
NM_139058.3(ARX):c.351C>A (p.Ala117=)
|
rs1313243538
|
0.00001
|
NM_139058.3(ARX):c.372G>A (p.Glu124=)
|
rs1006764242
|
0.00001
|
NM_139058.3(ARX):c.430G>T (p.Ala144Ser)
|
rs1253162910
|
0.00001
|
NM_139058.3(ARX):c.448GCCGCGGCC[3] (p.Ala153_Ala155dup)
|
rs797045302
|
0.00001
|
NC_000023.10:g.(?_25022767)_(25033874_?)dup
|
|
|
NC_000023.10:g.(?_25028377)_(25033854_?)dup
|
|
|
NM_139058.3(ARX):c.300G>C (p.Ala100=)
|
|
|
NM_139058.3(ARX):c.303A>C (p.Ala101=)
|
|
|
NM_139058.3(ARX):c.303_305del (p.Ala115del)
|
|
|
NM_139058.3(ARX):c.303_308del (p.Ala114_Ala115del)
|
|
|
NM_139058.3(ARX):c.303_311del (p.Ala113_Ala115del)
|
|
|
NM_139058.3(ARX):c.303_317del (p.Ala111_Ala115del)
|
rs1156871090
|
|
NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup)
|
rs2147324381
|
|
NM_139058.3(ARX):c.306G>A (p.Ala102=)
|
rs587783196
|
|
NM_139058.3(ARX):c.306G>C (p.Ala102=)
|
|
|
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[12] (p.Ala114_Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[13] (p.Ala113_Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[18] (p.Ala108_Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[3] (p.Ala109_Ala115del)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[4] (p.Ala110_Ala115del)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[5] (p.Ala111_Ala115del)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[6] (p.Ala112_Ala115del)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[9] (p.Ala115del)
|
rs387906492
|
|
NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup)
|
rs1365611175
|
|
NM_139058.3(ARX):c.311C>T (p.Ala104Val)
|
|
|
NM_139058.3(ARX):c.312G>A (p.Ala104=)
|
rs1419161057
|
|
NM_139058.3(ARX):c.312G>C (p.Ala104=)
|
|
|
NM_139058.3(ARX):c.312G>T (p.Ala104=)
|
|
|
NM_139058.3(ARX):c.315G>A (p.Ala105=)
|
rs2048713533
|
|
NM_139058.3(ARX):c.321_341del (p.Ala109_Ala115del)
|
rs1470521514
|
|
NM_139058.3(ARX):c.324G>A (p.Ala108=)
|
|
|
NM_139058.3(ARX):c.324_341del (p.Ala110_Ala115del)
|
rs2147324337
|
|
NM_139058.3(ARX):c.333G>C (p.Ala111=)
|
|
|
NM_139058.3(ARX):c.333G>T (p.Ala111=)
|
|
|
NM_139058.3(ARX):c.336_338del (p.Ala115del)
|
rs2048713322
|
|
NM_139058.3(ARX):c.336_338dup (p.Ala115_Thr116insAla)
|
|
|
NM_139058.3(ARX):c.336_341del (p.Ala114_Ala115del)
|
|
|
NM_139058.3(ARX):c.342C>G (p.Ala114=)
|
rs2147324330
|
|
NM_139058.3(ARX):c.345C>G (p.Ala115=)
|
rs2147324328
|
|
NM_139058.3(ARX):c.345CACGGC[3] (p.Ala119_Gly120insThrAla)
|
|
|
NM_139058.3(ARX):c.345_346delinsGG (p.Thr116Ala)
|
rs2147324326
|
|
NM_139058.3(ARX):c.346A>G (p.Thr116Ala)
|
rs1449728469
|
|
NM_139058.3(ARX):c.347C>T (p.Thr116Met)
|
|
|
NM_139058.3(ARX):c.348G>A (p.Thr116=)
|
rs1601948719
|
|
NM_139058.3(ARX):c.354G>A (p.Thr118=)
|
|
|
NM_139058.3(ARX):c.357_391del (p.Gly120fs)
|
|
|
NM_139058.3(ARX):c.363A>G (p.Pro121=)
|
|
|
NM_139058.3(ARX):c.365G>A (p.Arg122His)
|
rs1335963054
|
|
NM_139058.3(ARX):c.370G>T (p.Glu124Ter)
|
rs2147324296
|
|
NM_139058.3(ARX):c.373G>A (p.Ala125Thr)
|
rs1349449662
|
|
NM_139058.3(ARX):c.378_459del (p.Pro127fs)
|
|
|
NM_139058.3(ARX):c.387A>C (p.Pro129=)
|
|
|
NM_139058.3(ARX):c.389C>T (p.Pro130Leu)
|
rs1064795129
|
|
NM_139058.3(ARX):c.390G>T (p.Pro130=)
|
rs2147324273
|
|
NM_139058.3(ARX):c.398C>T (p.Ala133Val)
|
rs1601948689
|
|
NM_139058.3(ARX):c.399G>A (p.Ala133=)
|
rs2147324267
|
|
NM_139058.3(ARX):c.404C>T (p.Pro135Leu)
|
rs1569395563
|
|
NM_139058.3(ARX):c.409del (p.Glu137fs)
|
|
|
NM_139058.3(ARX):c.411A>C (p.Glu137Asp)
|
rs1601948681
|
|
NM_139058.3(ARX):c.414G>A (p.Arg138=)
|
|
|
NM_139058.3(ARX):c.414G>T (p.Arg138=)
|
|
|
NM_139058.3(ARX):c.415C>A (p.Pro139Thr)
|
rs2048712673
|
|
NM_139058.3(ARX):c.416C>T (p.Pro139Leu)
|
|
|
NM_139058.3(ARX):c.420C>T (p.Asp140=)
|
rs2147324243
|
|
NM_139058.3(ARX):c.421G>A (p.Gly141Ser)
|
rs2048712606
|
|
NM_139058.3(ARX):c.426A>C (p.Ala142=)
|
|
|
NM_139058.3(ARX):c.426A>T (p.Ala142=)
|
|
|
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup)
|
rs1569395541
|
|
NM_139058.3(ARX):c.426_458dup (p.Gly143_Ala153dup)
|
rs1556056154
|
|
NM_139058.3(ARX):c.428G>C (p.Gly143Ala)
|
rs2048712574
|
|
NM_139058.3(ARX):c.428_451del (p.Gly143_Ala150del)
|
rs387906493
|
|
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup)
|
rs387906493
|
|
NM_139058.3(ARX):c.432C>G (p.Ala144=)
|
|
|
NM_139058.3(ARX):c.432C>T (p.Ala144=)
|
|
|
NM_139058.3(ARX):c.432_446del (p.Ala151_Ala155del)
|
rs2147324216
|
|
NM_139058.3(ARX):c.433G>T (p.Ala145Ser)
|
rs1438576250
|
|
NM_139058.3(ARX):c.433_465del (p.Ala145_Ala155del)
|
rs1251374008
|
|
NM_139058.3(ARX):c.435C>G (p.Ala145=)
|
|
|
NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup)
|
rs1556056125
|
|
NM_139058.3(ARX):c.437C>G (p.Ala146Gly)
|
|
|
NM_139058.3(ARX):c.438_458del (p.Ala149_Ala155del)
|
rs2048712160
|
|
NM_139058.3(ARX):c.441A>C (p.Ala147=)
|
rs797045301
|
|
NM_139058.3(ARX):c.441A>G (p.Ala147=)
|
rs797045301
|
|
NM_139058.3(ARX):c.441_446del (p.Ala154_Ala155del)
|
rs1460450589
|
|
NM_139058.3(ARX):c.441_446dup (p.Ala154_Ala155dup)
|
rs1460450589
|
|
NM_139058.3(ARX):c.441_449del (p.Ala153_Ala155del)
|
|
|
NM_139058.3(ARX):c.441_455del (p.Ala151_Ala155del)
|
rs750585274
|
|
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup)
|
rs750585274
|
|
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del)
|
rs398124510
|
|
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup)
|
rs398124510
|
|
NM_139058.3(ARX):c.442G>C (p.Ala148Pro)
|
|
|
NM_139058.3(ARX):c.443_444insGGCCGC (p.Ala155_Trp156insAlaAla)
|
|
|
NM_139058.3(ARX):c.447GGCCGC[1] (p.Ala154_Ala155del)
|
|
|
NM_139058.3(ARX):c.447GGCCGC[3] (p.Ala154_Ala155dup)
|
rs398124512
|
|
NM_139058.3(ARX):c.448G>A (p.Ala150Thr)
|
|
|
NM_139058.3(ARX):c.448GCCGCGGCC[1] (p.Ala153_Ala155del)
|
rs797045302
|
|
NM_139058.3(ARX):c.449C>T (p.Ala150Val)
|
rs2048712353
|
|
NM_139058.3(ARX):c.450C>T (p.Ala150=)
|
|
|
NM_139058.3(ARX):c.451_464del (p.Ala151fs)
|
|
|
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del)
|
rs757588621
|
|
NM_139058.3(ARX):c.452C>T (p.Ala151Val)
|
rs1439646032
|
|
NM_139058.3(ARX):c.453G>A (p.Ala151=)
|
|
|
NM_139058.3(ARX):c.453G>C (p.Ala151=)
|
rs878855205
|
|
NM_139058.3(ARX):c.454G>A (p.Ala152Thr)
|
rs587783201
|
|
NM_139058.3(ARX):c.456C>A (p.Ala152=)
|
|
|
NM_139058.3(ARX):c.457G>A (p.Ala153Thr)
|
rs2048712192
|
|
NM_139058.3(ARX):c.462G>C (p.Ala154=)
|
|
|
NM_139058.3(ARX):c.462G>T (p.Ala154=)
|
|
|