NM_014946.4(SPAST):c.1121C>T (p.Pro374Leu)
|
rs1471030618
|
0.00001
|
NM_014946.4(SPAST):c.1245+1G>A
|
rs875989878
|
0.00001
|
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)
|
rs863224923
|
0.00001
|
NM_014946.4(SPAST):c.421C>T (p.Gln141Ter)
|
rs1485703744
|
0.00001
|
NC_000002.11:g.(?_32288891)_(32341291_?)del
|
|
|
NC_000002.11:g.(?_32288901)_(32323980_?)del
|
|
|
NC_000002.11:g.(?_32288901)_(32341301_?)del
|
|
|
NC_000002.11:g.(?_32288901)_(32379565_?)del
|
|
|
NC_000002.11:g.(?_32312541)_(32341301_?)del
|
|
|
NC_000002.11:g.(?_32314571)_(32314694_?)del
|
|
|
NC_000002.11:g.(?_32314571)_(32341301_?)del
|
|
|
NC_000002.11:g.(?_32339687)_(32339914_?)del
|
|
|
NC_000002.11:g.(?_32339687)_(32341301_?)del
|
|
|
NC_000002.11:g.(?_32339687)_(32379565_?)del
|
|
|
NC_000002.11:g.(?_32339697)_(32379575_?)del
|
|
|
NC_000002.11:g.(?_32351997)_(32362277_?)del
|
|
|
NC_000002.11:g.(?_32351997)_(32379565_?)del
|
|
|
NC_000002.11:g.(?_32353457)_(32353568_?)dup
|
|
|
NC_000002.11:g.(?_32358030)_(32362241_?)del
|
|
|
NC_000002.11:g.(?_32361622)_(32379575_?)del
|
|
|
NC_000002.11:g.(?_32366953)_(32370096_?)del
|
|
|
NC_000002.11:g.(?_32366967)_(32372333_?)del
|
|
|
NC_000002.11:g.(?_32368385)_(32368504_?)del
|
|
|
NC_000002.11:g.(?_32368385)_(32370096_?)del
|
|
|
NC_000002.11:g.(?_32370032)_(32371757_?)del
|
|
|
NC_000002.11:g.(?_32372267)_(32372347_?)del
|
|
|
NC_000002.11:g.(?_32379423)_(32379565_?)del
|
|
|
NC_000002.12:g.(?_32063611)_(32064246_?)del
|
|
|
NC_000002.12:g.(?_32063812)_(32064266_?)del
|
|
|
NC_000002.12:g.(?_32063822)_(32064256_?)del
|
|
|
NC_000002.12:g.(?_32063822)_(32089615_?)del
|
|
|
NC_000002.12:g.(?_32063822)_(32154506_?)del
|
|
|
NC_000002.12:g.(?_32063826)_(32098897_?)del
|
|
|
NC_000002.12:g.(?_32087482)_(32116222_?)del
|
|
|
NC_000002.12:g.(?_32098786)_(32116222_?)del
|
|
|
NC_000002.12:g.(?_32114618)_(32128499_?)del
|
|
|
NC_000002.12:g.(?_32114618)_(32147278_?)del
|
|
|
NC_000002.12:g.(?_32114628)_(32114835_?)del
|
|
|
NC_000002.12:g.(?_32114638)_(32157637_?)del
|
|
|
NC_000002.12:g.(?_32126928)_(32128499_?)del
|
|
|
NC_000002.12:g.(?_32126938)_(32128489_?)del
|
|
|
NC_000002.12:g.(?_32126938)_(32154506_?)del
|
|
|
NC_000002.12:g.(?_32136543)_(32137208_?)del
|
|
|
NC_000002.12:g.(?_32136543)_(32147278_?)del
|
|
|
NC_000002.12:g.(?_32136553)_(32136648_?)del
|
|
|
NC_000002.12:g.(?_32136553)_(32137198_?)del
|
|
|
NC_000002.12:g.(?_32143325)_(32147268_?)del
|
|
|
NC_000002.12:g.(?_32144927)_(32154506_?)del
|
|
|
NC_000002.12:g.(?_32147208)_(32147268_?)dup
|
|
|
NC_000002.12:g.(?_32154364)_(32154506_?)del
|
|
|
NC_000002.12:g.32141904del
|
rs2148758232
|
|
NC_000002.12:g.32154379_32154380insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAAATCTAGATGAGA
|
|
|
NM_014946.3(SPAST):c.(?_1729)_(1851_?)del
|
|
|
NM_014946.3(SPAST):c.1494-?_1728+?del
|
|
|
NM_014946.4(SPAST):c.1004+1G>C
|
rs1553315236
|
|
NM_014946.4(SPAST):c.1004+2T>G
|
rs1553315240
|
|
NM_014946.4(SPAST):c.1005-1G>A
|
rs1553315318
|
|
NM_014946.4(SPAST):c.1005-1G>T
|
rs1553315318
|
|
NM_014946.4(SPAST):c.1011_1012dup (p.Ala338fs)
|
rs2148734474
|
|
NM_014946.4(SPAST):c.1018_1022del (p.Val339_Lys340insTer)
|
rs1553315321
|
|
NM_014946.4(SPAST):c.1039C>T (p.Gln347Ter)
|
rs1553315329
|
|
NM_014946.4(SPAST):c.1040A>C (p.Gln347Pro)
|
rs1678825469
|
|
NM_014946.4(SPAST):c.1066G>T (p.Glu356Ter)
|
|
|
NM_014946.4(SPAST):c.1067A>G (p.Glu356Gly)
|
rs1553315345
|
|
NM_014946.4(SPAST):c.1069del (p.Ile357fs)
|
rs2148734579
|
|
NM_014946.4(SPAST):c.1071del (p.Ile357fs)
|
rs2148734583
|
|
NM_014946.4(SPAST):c.1081C>T (p.Pro361Ser)
|
rs1553315350
|
|
NM_014946.4(SPAST):c.1096G>T (p.Glu366Ter)
|
|
|
NM_014946.4(SPAST):c.1098+1G>A
|
rs1377020559
|
|
NM_014946.4(SPAST):c.1099-1G>C
|
|
|
NM_014946.4(SPAST):c.1103T>C (p.Phe368Ser)
|
rs1553316799
|
|
NM_014946.4(SPAST):c.1116A>C (p.Arg372Ser)
|
rs1425976342
|
|
NM_014946.4(SPAST):c.1118del (p.Ala373fs)
|
rs2148744935
|
|
NM_014946.4(SPAST):c.1139_1160del (p.Leu380fs)
|
rs2148744982
|
|
NM_014946.4(SPAST):c.1151C>G (p.Pro384Arg)
|
rs1573139616
|
|
NM_014946.4(SPAST):c.1151C>T (p.Pro384Leu)
|
rs1573139616
|
|
NM_014946.4(SPAST):c.1157A>G (p.Asn386Ser)
|
rs121908514
|
|
NM_014946.4(SPAST):c.1163A>G (p.Lys388Arg)
|
rs1553316837
|
|
NM_014946.4(SPAST):c.1164G>C (p.Lys388Asn)
|
rs1553316838
|
|
NM_014946.4(SPAST):c.1164G>T (p.Lys388Asn)
|
rs1553316838
|
|
NM_014946.4(SPAST):c.1165A>G (p.Thr389Ala)
|
rs786204132
|
|
NM_014946.4(SPAST):c.1166C>T (p.Thr389Ile)
|
|
|
NM_014946.4(SPAST):c.1168A>G (p.Met390Val)
|
rs797044850
|
|
NM_014946.4(SPAST):c.1170G>A (p.Met390Ile)
|
rs1131691971
|
|
NM_014946.4(SPAST):c.1173+185_1245del
|
|
|
NM_014946.4(SPAST):c.1173+1G>A
|
rs1060502226
|
|
NM_014946.4(SPAST):c.1174-1G>A
|
rs1553317024
|
|
NM_014946.4(SPAST):c.1174-1G>C
|
rs1553317024
|
|
NM_014946.4(SPAST):c.1180del (p.Ala394fs)
|
rs1679263902
|
|
NM_014946.4(SPAST):c.1196C>G (p.Ser399Trp)
|
rs1553317025
|
|
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)
|
rs1553317025
|
|
NM_014946.4(SPAST):c.1199del (p.Asn400fs)
|
|
|
NM_014946.4(SPAST):c.1206CTT[1] (p.Phe404del)
|
rs1553317028
|
|
NM_014946.4(SPAST):c.1209del (p.Phe404fs)
|
rs1057520127
|
|
NM_014946.4(SPAST):c.1215_1219del (p.Asn405fs)
|
rs1553317032
|
|
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val)
|
rs587777757
|
|
NM_014946.4(SPAST):c.1226C>A (p.Ala409Glu)
|
rs2148746390
|
|
NM_014946.4(SPAST):c.1238C>A (p.Ser413Ter)
|
rs1553317045
|
|
NM_014946.4(SPAST):c.1238C>T (p.Ser413Leu)
|
rs1553317045
|
|
NM_014946.4(SPAST):c.1245+1G>C
|
|
|
NM_014946.4(SPAST):c.1245+4A>G
|
rs587777755
|
|
NM_014946.4(SPAST):c.1245+5G>A
|
rs1553317049
|
|
NM_014946.4(SPAST):c.1245+6T>G
|
rs1553317050
|
|
NM_014946.4(SPAST):c.1245del (p.Lys414_Tyr415insTer)
|
rs863224513
|
|
NM_014946.4(SPAST):c.1250G>T (p.Gly417Val)
|
rs1553318161
|
|
NM_014946.4(SPAST):c.1252G>A (p.Glu418Lys)
|
rs1553318164
|
|
NM_014946.4(SPAST):c.1252G>T (p.Glu418Ter)
|
rs1553318164
|
|
NM_014946.4(SPAST):c.1253_1255del (p.Glu418del)
|
rs1558336544
|
|
NM_014946.4(SPAST):c.1258G>C (p.Glu420Gln)
|
rs1558336551
|
|
NM_014946.4(SPAST):c.1273G>C (p.Ala425Pro)
|
|
|
NM_014946.4(SPAST):c.1276C>G (p.Leu426Val)
|
rs1060502227
|
|
NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe)
|
rs1060502227
|
|
NM_014946.4(SPAST):c.127G>T (p.Glu43Ter)
|
rs573642949
|
|
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter)
|
rs786204126
|
|
NM_014946.4(SPAST):c.1291del (p.Arg431fs)
|
|
|
NM_014946.4(SPAST):c.1300C>T (p.Gln434Ter)
|
|
|
NM_014946.4(SPAST):c.1304C>T (p.Pro435Leu)
|
rs1553318182
|
|
NM_014946.4(SPAST):c.1322-1G>T
|
rs1365753930
|
|
NM_014946.4(SPAST):c.1322A>G (p.Asp441Gly)
|
rs121908512
|
|
NM_014946.4(SPAST):c.1339_1340del (p.Leu447fs)
|
rs1679553611
|
|
NM_014946.4(SPAST):c.1343G>A (p.Cys448Tyr)
|
rs121908510
|
|
NM_014946.4(SPAST):c.1348A>G (p.Arg450Gly)
|
rs1553318223
|
|
NM_014946.4(SPAST):c.1350_1351del (p.Glu452fs)
|
rs2148753972
|
|
NM_014946.4(SPAST):c.1359_1360dup (p.Glu454fs)
|
rs1384312757
|
|
NM_014946.4(SPAST):c.1360G>A (p.Glu454Lys)
|
rs1553318230
|
|
NM_014946.4(SPAST):c.1361dup (p.His455fs)
|
rs1573156283
|
|
NM_014946.4(SPAST):c.1363C>T (p.His455Tyr)
|
|
|
NM_014946.4(SPAST):c.1368dup (p.Ala457fs)
|
rs1573156341
|
|
NM_014946.4(SPAST):c.1375del (p.Arg459fs)
|
rs2148754018
|
|
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)
|
rs878854990
|
|
NM_014946.4(SPAST):c.1379G>T (p.Arg460Leu)
|
|
|
NM_014946.4(SPAST):c.1390G>T (p.Glu464Ter)
|
rs1679556566
|
|
NM_014946.4(SPAST):c.1392del (p.Glu464fs)
|
rs1558336906
|
|
NM_014946.4(SPAST):c.1412G>A (p.Gly471Asp)
|
rs1553318274
|
|
NM_014946.4(SPAST):c.1413+1G>A
|
rs1553318276
|
|
NM_014946.4(SPAST):c.1414-1G>C
|
rs786204163
|
|
NM_014946.4(SPAST):c.1417C>T (p.Gln473Ter)
|
rs757130394
|
|
NM_014946.4(SPAST):c.1437_1438del (p.Arg479fs)
|
rs864622268
|
|
NM_014946.4(SPAST):c.1442_1443insA (p.Val482fs)
|
rs1553318313
|
|
NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg)
|
rs1553318317
|
|
NM_014946.4(SPAST):c.1456A>G (p.Thr486Ala)
|
rs1553318320
|
|
NM_014946.4(SPAST):c.1458_1459dup (p.Asn487fs)
|
rs1558337136
|
|
NM_014946.4(SPAST):c.1468C>T (p.Gln490Ter)
|
rs1553318336
|
|
NM_014946.4(SPAST):c.1483G>A (p.Ala495Thr)
|
rs1060502228
|
|
NM_014946.4(SPAST):c.1484C>T (p.Ala495Val)
|
rs1553318347
|
|
NM_014946.4(SPAST):c.1493+1G>A
|
rs1553318351
|
|
NM_014946.4(SPAST):c.1493+1G>T
|
rs1553318351
|
|
NM_014946.4(SPAST):c.1493+2_1493+5del
|
rs1558337180
|
|
NM_014946.4(SPAST):c.1494-1G>C
|
rs1315245986
|
|
NM_014946.4(SPAST):c.1494-2A>C
|
rs1218081251
|
|
NM_014946.4(SPAST):c.1494-2A>G
|
rs1218081251
|
|
NM_014946.4(SPAST):c.1494-2A>T
|
rs1218081251
|
|
NM_014946.4(SPAST):c.1494G>C (p.Arg498Ser)
|
rs1553319075
|
|
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)
|
rs121908511
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_014946.4(SPAST):c.1506del (p.Lys502fs)
|
rs2148758252
|
|
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp)
|
rs864622162
|
|
NM_014946.4(SPAST):c.1514_1515del (p.Tyr505fs)
|
rs1679732948
|
|
NM_014946.4(SPAST):c.1536+1G>A
|
|
|
NM_014946.4(SPAST):c.1536+2T>C
|
|
|
NM_014946.4(SPAST):c.1536G>A (p.Glu512=)
|
rs1553319093
|
|
NM_014946.4(SPAST):c.1537-1G>A
|
rs1553319280
|
|
NM_014946.4(SPAST):c.1537-2A>C
|
|
|
NM_014946.4(SPAST):c.1537-2A>T
|
|
|
NM_014946.4(SPAST):c.1539_1540del (p.Arg514fs)
|
rs2148759370
|
|
NM_014946.4(SPAST):c.153C>G (p.Tyr51Ter)
|
rs1462628095
|
|
NM_014946.4(SPAST):c.1550del (p.Leu517fs)
|
|
|
NM_014946.4(SPAST):c.1563del (p.Leu522fs)
|
|
|
NM_014946.4(SPAST):c.156T>G (p.Tyr52Ter)
|
rs1553394497
|
|
NM_014946.4(SPAST):c.1573C>T (p.Gln525Ter)
|
rs1553319296
|
|
NM_014946.4(SPAST):c.1577_1580del (p.Gly526fs)
|
rs1553319298
|
|
NM_014946.4(SPAST):c.1583del (p.Pro528fs)
|
rs1573167562
|
|
NM_014946.4(SPAST):c.1591C>T (p.Gln531Ter)
|
rs2148759447
|
|
NM_014946.4(SPAST):c.1601T>C (p.Leu534Pro)
|
rs1553319317
|
|
NM_014946.4(SPAST):c.1601del (p.Leu534fs)
|
rs1553319318
|
|
NM_014946.4(SPAST):c.1614dup (p.Arg539Ter)
|
|
|
NM_014946.4(SPAST):c.1616+1G>A
|
rs1553319327
|
|
NM_014946.4(SPAST):c.1616+1G>C
|
rs1553319327
|
|
NM_014946.4(SPAST):c.1617-1G>A
|
rs1553319526
|
|
NM_014946.4(SPAST):c.1617-1G>T
|
|
|
NM_014946.4(SPAST):c.1617-2A>G
|
rs1553319524
|
|
NM_014946.4(SPAST):c.1632C>A (p.Tyr544Ter)
|
|
|
NM_014946.4(SPAST):c.1636G>C (p.Gly546Arg)
|
rs2148760843
|
|
NM_014946.4(SPAST):c.1637G>A (p.Gly546Glu)
|
rs786204057
|
|
NM_014946.4(SPAST):c.165C>A (p.Tyr55Ter)
|
rs368951498
|
|
NM_014946.4(SPAST):c.1664A>G (p.Asp555Gly)
|
|
|
NM_014946.4(SPAST):c.1666G>C (p.Ala556Pro)
|
rs1558341948
|
|
NM_014946.4(SPAST):c.166_175del (p.Tyr55_Pro56insTer)
|
rs1553394509
|
|
NM_014946.4(SPAST):c.1675G>C (p.Gly559Arg)
|
rs878854992
|
|
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp)
|
rs864622179
|
|
NM_014946.4(SPAST):c.167dup (p.Leu57fs)
|
|
|
NM_014946.4(SPAST):c.1684C>G (p.Arg562Gly)
|
rs121908518
|
|
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter)
|
rs121908518
|
|
NM_014946.4(SPAST):c.1688-1G>A
|
rs1573174147
|
|
NM_014946.4(SPAST):c.1688-2A>G
|
rs587777752
|
|
NM_014946.4(SPAST):c.16G>T (p.Gly6Ter)
|
|
|
NM_014946.4(SPAST):c.1701dup (p.Gln568fs)
|
rs2148762787
|
|
NM_014946.4(SPAST):c.1723del (p.Ser575fs)
|
|
|
NM_014946.4(SPAST):c.1728+1G>A
|
rs587777754
|
|
NM_014946.4(SPAST):c.1728+1G>T
|
rs587777754
|
|
NM_014946.4(SPAST):c.1728+2T>G
|
rs1553319874
|
|
NM_014946.4(SPAST):c.1729-1G>A
|
rs1064793976
|
|
NM_014946.4(SPAST):c.1729-2A>G
|
rs1553321194
|
|
NM_014946.4(SPAST):c.1740del (p.Arg581fs)
|
rs1680184249
|
|
NM_014946.4(SPAST):c.1762_1785del (p.Ser588_Ser595del)
|
|
|
NM_014946.4(SPAST):c.1774del (p.Lys591_Ile592insTer)
|
rs1680185365
|
|
NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys)
|
rs1553321237
|
|
NM_014946.4(SPAST):c.1815_1816insGA (p.Arg606fs)
|
|
|
NM_014946.4(SPAST):c.1840dup (p.Thr614fs)
|
|
|
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile)
|
rs1573186691
|
|
NM_014946.4(SPAST):c.1849T>C (p.Ter617Gln)
|
|
|
NM_014946.4(SPAST):c.1849T>G (p.Ter617Glu)
|
rs1553321270
|
|
NM_014946.4(SPAST):c.207_222dup (p.Phe75fs)
|
|
|
NM_014946.4(SPAST):c.212del (p.Leu71fs)
|
rs2148685545
|
|
NM_014946.4(SPAST):c.217del (p.Leu73fs)
|
|
|
NM_014946.4(SPAST):c.237C>A (p.Cys79Ter)
|
|
|
NM_014946.4(SPAST):c.259_260del (p.Met87fs)
|
rs2148685612
|
|
NM_014946.4(SPAST):c.286del (p.Ala96fs)
|
rs1573028017
|
|
NM_014946.4(SPAST):c.302C>A (p.Ser101Ter)
|
rs746263735
|
|
NM_014946.4(SPAST):c.328_340del (p.Gly110fs)
|
rs1410418105
|
|
NM_014946.4(SPAST):c.334G>T (p.Glu112Ter)
|
rs1553394603
|
|
NM_014946.4(SPAST):c.340G>T (p.Glu114Ter)
|
rs1553394608
|
|
NM_014946.4(SPAST):c.344_353dup (p.Phe119fs)
|
rs1558606204
|
|
NM_014946.4(SPAST):c.361A>T (p.Lys121Ter)
|
rs1553394620
|
|
NM_014946.4(SPAST):c.369dup (p.Phe124fs)
|
|
|
NM_014946.4(SPAST):c.390_391delinsGGT (p.Leu131fs)
|
rs1060502230
|
|
NM_014946.4(SPAST):c.410del (p.Glu137fs)
|
rs1060502229
|
|
NM_014946.4(SPAST):c.411_412dup (p.Lys138fs)
|
|
|
NM_014946.4(SPAST):c.415+1G>A
|
rs1057521135
|
|
NM_014946.4(SPAST):c.415+1G>C
|
|
|
NM_014946.4(SPAST):c.415+1G>T
|
rs1057521135
|
|
NM_014946.4(SPAST):c.422_425del (p.Gln141fs)
|
rs1553399472
|
|
NM_014946.4(SPAST):c.430C>T (p.Gln144Ter)
|
rs1553399476
|
|
NM_014946.4(SPAST):c.443G>A (p.Trp148Ter)
|
rs1573068995
|
|
NM_014946.4(SPAST):c.444G>A (p.Trp148Ter)
|
rs1553399493
|
|
NM_014946.4(SPAST):c.465del (p.Glu155fs)
|
rs863224514
|
|
NM_014946.4(SPAST):c.469G>T (p.Glu157Ter)
|
|
|
NM_014946.4(SPAST):c.494del (p.Thr165fs)
|
rs2148708949
|
|
NM_014946.4(SPAST):c.508C>T (p.Gln170Ter)
|
rs886039695
|
|
NM_014946.4(SPAST):c.514G>T (p.Glu172Ter)
|
rs2148710558
|
|
NM_014946.4(SPAST):c.521del (p.Ala174fs)
|
rs1677627829
|
|
NM_014946.4(SPAST):c.562del (p.Ala188fs)
|
rs1553400002
|
|
NM_014946.4(SPAST):c.577C>T (p.Gln193Ter)
|
rs1553400013
|
|
NM_014946.4(SPAST):c.580del (p.Leu194fs)
|
rs2148710617
|
|
NM_014946.4(SPAST):c.695_717dup (p.Thr240delinsPheGlnLysGluLysThrProTer)
|
rs1678753568
|
|
NM_014946.4(SPAST):c.698del (p.Pro233fs)
|
rs1573118105
|
|
NM_014946.4(SPAST):c.6_7del (p.Pro4fs)
|
rs1553394366
|
|
NM_014946.4(SPAST):c.724_725del (p.His241_Thr242insTer)
|
rs1558323426
|
|
NM_014946.4(SPAST):c.734C>G (p.Ser245Ter)
|
rs1553314896
|
|
NM_014946.4(SPAST):c.746C>G (p.Ser249Ter)
|
rs1553314902
|
|
NM_014946.4(SPAST):c.746dup (p.Thr251fs)
|
rs2148732927
|
|
NM_014946.4(SPAST):c.751dup (p.Thr251fs)
|
|
|
NM_014946.4(SPAST):c.757dup (p.Met253fs)
|
rs2148732951
|
|
NM_014946.4(SPAST):c.763dup (p.Thr255fs)
|
|
|
NM_014946.4(SPAST):c.782C>A (p.Ser261Ter)
|
rs768241184
|
|
NM_014946.4(SPAST):c.782C>G (p.Ser261Ter)
|
|
|
NM_014946.4(SPAST):c.803_806dup (p.Tyr269Ter)
|
|
|
NM_014946.4(SPAST):c.811_817del (p.Gly271fs)
|
|
|
NM_014946.4(SPAST):c.838C>T (p.Gln280Ter)
|
rs1553314948
|
|
NM_014946.4(SPAST):c.839_840del (p.Gln280fs)
|
rs1678762730
|
|
NM_014946.4(SPAST):c.857del (p.Pro286fs)
|
|
|
NM_014946.4(SPAST):c.867_868del (p.His289fs)
|
rs1558323659
|
|
NM_014946.4(SPAST):c.870+1G>A
|
rs1553314978
|
|
NM_014946.4(SPAST):c.870+1G>T
|
rs1553314978
|
|
NM_014946.4(SPAST):c.870+2T>C
|
|
|
NM_014946.4(SPAST):c.870G>A (p.Lys290=)
|
rs1421791559
|
|
NM_014946.4(SPAST):c.870G>C (p.Lys290Asn)
|
|
|
NM_014946.4(SPAST):c.883dup (p.Thr295fs)
|
rs1553315181
|
|
NM_014946.4(SPAST):c.899_900insTT (p.Lys300fs)
|
rs1678803263
|
|
NM_014946.4(SPAST):c.902_903dup (p.Ser302fs)
|
rs2148734025
|
|
NM_014946.4(SPAST):c.923_927del (p.Thr308fs)
|
rs1678805683
|
|
NM_014946.4(SPAST):c.924dup (p.Arg309fs)
|
rs1678805865
|
|
NM_014946.4(SPAST):c.925del (p.Arg309fs)
|
rs863224515
|
|
NM_014946.4(SPAST):c.928A>T (p.Lys310Ter)
|
rs1678806430
|
|
NM_014946.4(SPAST):c.936dup (p.Asp313fs)
|
rs2148734097
|
|
NM_014946.4(SPAST):c.939_943del (p.Asp313fs)
|
|
|
NM_014946.4(SPAST):c.93dup (p.Ala32fs)
|
rs1676391139
|
|
NM_014946.4(SPAST):c.942dup (p.Lys315fs)
|
|
|
NM_014946.4(SPAST):c.956dup (p.Asn319fs)
|
|
|
NM_014946.4(SPAST):c.966del (p.Ser322fs)
|
|
|
NM_014946.4(SPAST):c.970del (p.Ala325fs)
|
rs1678809494
|
|
NM_014946.4(SPAST):c.975dup (p.Asn326Ter)
|
rs1678809927
|
|
NM_014946.4(SPAST):c.977dup (p.Asn326fs)
|
rs1678810039
|
|