NM_139058.3(ARX):c.1170C>T (p.Gly390=)
|
rs761632870
|
0.00006
|
NM_139058.3(ARX):c.1450C>T (p.Leu484Phe)
|
rs752649243
|
0.00004
|
NM_139058.3(ARX):c.187G>A (p.Ala63Thr)
|
rs769996976
|
0.00001
|
NM_139058.3(ARX):c.807C>T (p.Ala269=)
|
rs587783205
|
0.00001
|
NG_008281.1:g.(?_4983)_(8028_10643)del
|
|
|
NM_139058.3(ARX):c.1028T>A (p.Leu343Gln)
|
rs104894741
|
|
NM_139058.3(ARX):c.1096del (p.Asp366fs)
|
rs797045289
|
|
NM_139058.3(ARX):c.1117C>T (p.Gln373Ter)
|
rs104894740
|
|
NM_139058.3(ARX):c.1120-82_1469dup
|
|
|
NM_139058.3(ARX):c.1121T>A (p.Val374Asp)
|
rs587783183
|
|
NM_139058.3(ARX):c.1134C>A (p.Asn378Lys)
|
rs587783184
|
|
NM_139058.3(ARX):c.1141del (p.Ala381fs)
|
rs1556049694
|
|
NM_139058.3(ARX):c.1164_1165insCAAAG (p.Ala389fs)
|
rs797045290
|
|
NM_139058.3(ARX):c.1187dup (p.Gly397fs)
|
rs1328291159
|
|
NM_139058.3(ARX):c.1206del (p.Pro403fs)
|
rs2147320576
|
|
NM_139058.3(ARX):c.1223_1226dup (p.Leu410fs)
|
rs2048682798
|
|
NM_139058.3(ARX):c.1337dup (p.Pro447fs)
|
rs797045291
|
|
NM_139058.3(ARX):c.1372del (p.Ala458fs)
|
rs587783187
|
|
NM_139058.3(ARX):c.1414C>T (p.Arg472Ter)
|
rs587783189
|
|
NM_139058.3(ARX):c.1449-82_1469dup
|
rs1556046904
|
|
NM_139058.3(ARX):c.1465del (p.Ala489fs)
|
rs587783191
|
|
NM_139058.3(ARX):c.1471dup (p.Leu491fs)
|
rs797045292
|
|
NM_139058.3(ARX):c.229G>A (p.Ala77Thr)
|
|
|
NM_139058.3(ARX):c.232G>T (p.Glu78Ter)
|
rs267606666
|
|
NM_139058.3(ARX):c.260G>C (p.Arg87Pro)
|
rs786203995
|
|
NM_139058.3(ARX):c.525C>G (p.Tyr175Ter)
|
rs1601948603
|
|
NM_139058.3(ARX):c.562_563delinsTA (p.Ala188Ter)
|
rs797045303
|
|
NM_139058.3(ARX):c.617del (p.Gly206fs)
|
rs587783202
|
|
NM_139058.3(ARX):c.74CCT[1] (p.Ser26del)
|
rs2147325450
|
|
NM_139058.3(ARX):c.790del (p.Arg264fs)
|
rs886043552
|
|
NM_139058.3(ARX):c.821dup (p.Ala275fs)
|
|
|
NM_139058.3(ARX):c.956C>A (p.Ser319Ter)
|
rs2048708701
|
|
NM_139058.3(ARX):c.994C>G (p.Arg332Gly)
|
rs2147323593
|
|
NM_139058.3(ARX):c.995G>A (p.Arg332His)
|
rs111033612
|
|
NM_139058.3(ARX):c.995G>T (p.Arg332Leu)
|
rs111033612
|
|