NM_003119.4(SPG7):c.120G>A (p.Gly40=)
|
rs187330648
|
0.00779
|
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)
|
rs111475461
|
0.00551
|
NM_003119.4(SPG7):c.*398G>A
|
rs148314733
|
0.00483
|
NM_003119.4(SPG7):c.1032C>T (p.Gly344=)
|
rs116319889
|
0.00450
|
NM_003119.4(SPG7):c.*432G>A
|
rs545177317
|
0.00158
|
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr)
|
rs535030441
|
0.00136
|
NM_003119.4(SPG7):c.1083G>A (p.Ala361=)
|
rs114135540
|
0.00089
|
NM_003119.4(SPG7):c.1324+10C>T
|
rs202070075
|
0.00073
|
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr)
|
rs2099104
|
0.00073
|
NM_003119.4(SPG7):c.199C>T (p.Leu67=)
|
rs148315471
|
0.00066
|
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)
|
rs140769107
|
0.00061
|
NM_003119.4(SPG7):c.1359G>A (p.Ala453=)
|
rs115448299
|
0.00024
|
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg)
|
rs114854791
|
0.00022
|
NM_003119.4(SPG7):c.1939G>T (p.Ala647Ser)
|
rs199689138
|
0.00017
|
NM_003119.4(SPG7):c.782C>T (p.Thr261Met)
|
rs370949294
|
0.00014
|
NM_003119.4(SPG7):c.80C>G (p.Pro27Arg)
|
rs878854605
|
0.00013
|
NM_003119.4(SPG7):c.89G>A (p.Ser30Asn)
|
rs863224215
|
0.00013
|
NM_003119.4(SPG7):c.*24C>T
|
rs367714018
|
0.00011
|
NM_003119.4(SPG7):c.*483A>G
|
rs548134361
|
0.00011
|
NM_003119.4(SPG7):c.2274C>T (p.Ile758=)
|
rs147302322
|
0.00011
|
NM_003119.4(SPG7):c.76G>T (p.Gly26Cys)
|
rs763721899
|
0.00011
|
NM_003119.4(SPG7):c.619C>T (p.Arg207Trp)
|
rs199751531
|
0.00010
|
NM_003119.4(SPG7):c.161A>G (p.Glu54Gly)
|
rs750617337
|
0.00009
|
NM_003119.4(SPG7):c.1971C>T (p.Ile657=)
|
rs140356355
|
0.00009
|
NM_003119.4(SPG7):c.454A>G (p.Met152Val)
|
rs146186857
|
0.00009
|
NM_003119.4(SPG7):c.584A>G (p.Tyr195Cys)
|
rs145776296
|
0.00009
|
NM_003119.4(SPG7):c.1049C>A (p.Pro350His)
|
rs376254211
|
0.00008
|
NM_003119.4(SPG7):c.1213G>A (p.Val405Ile)
|
rs115999025
|
0.00008
|
NM_003119.4(SPG7):c.2083C>G (p.Leu695Val)
|
rs754203248
|
0.00008
|
NM_003119.4(SPG7):c.306C>T (p.Asn102=)
|
rs147397994
|
0.00007
|
NM_003119.4(SPG7):c.1236G>A (p.Ala412=)
|
rs201129878
|
0.00006
|
NM_003119.4(SPG7):c.1325-6C>T
|
rs371986686
|
0.00006
|
NM_003119.4(SPG7):c.1735G>A (p.Ala579Thr)
|
rs763187694
|
0.00006
|
NM_003119.4(SPG7):c.331A>G (p.Lys111Glu)
|
rs1239421989
|
0.00006
|
NM_003119.4(SPG7):c.*11T>A
|
rs201811837
|
0.00004
|
NM_003119.4(SPG7):c.1033G>A (p.Ala345Thr)
|
rs368373840
|
0.00004
|
NM_003119.4(SPG7):c.1172G>A (p.Arg391Gln)
|
rs778409451
|
0.00004
|
NM_003119.4(SPG7):c.1198C>T (p.Arg400Trp)
|
rs748024868
|
0.00004
|
NM_003119.4(SPG7):c.1266C>T (p.Ser422=)
|
rs767857665
|
0.00004
|
NM_003119.4(SPG7):c.1601G>A (p.Arg534Gln)
|
rs757160836
|
0.00004
|
NM_003119.4(SPG7):c.1654G>A (p.Val552Ile)
|
rs750306995
|
0.00004
|
NM_003119.4(SPG7):c.1752G>C (p.Met584Ile)
|
rs753337774
|
0.00004
|
NM_003119.4(SPG7):c.1807G>A (p.Ala603Thr)
|
rs370852816
|
0.00004
|
NM_003119.4(SPG7):c.184-4T>C
|
rs533778042
|
0.00004
|
NM_003119.4(SPG7):c.1966C>T (p.Arg656Cys)
|
rs536084933
|
0.00004
|
NM_003119.4(SPG7):c.2096dup (p.Met699fs)
|
rs747503698
|
0.00004
|
NM_003119.4(SPG7):c.2370G>A (p.Glu790=)
|
rs936520999
|
0.00004
|
NM_003119.4(SPG7):c.566G>A (p.Ser189Asn)
|
rs762049799
|
0.00004
|
NM_003119.4(SPG7):c.578A>G (p.Glu193Gly)
|
rs114191002
|
0.00004
|
NM_003119.4(SPG7):c.656T>C (p.Ile219Thr)
|
rs114255772
|
0.00004
|
NM_003119.4(SPG7):c.988-3C>T
|
rs533584901
|
0.00004
|
NM_003119.4(SPG7):c.1324+4273G>T
|
rs142373545
|
0.00003
|
NM_003119.4(SPG7):c.182A>G (p.Gln61Arg)
|
rs1306012072
|
0.00003
|
NM_003119.4(SPG7):c.2191G>A (p.Ala731Thr)
|
rs747521455
|
0.00003
|
NM_003119.4(SPG7):c.568G>A (p.Asp190Asn)
|
rs765532928
|
0.00003
|
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter)
|
rs774774648
|
0.00003
|
NM_003119.4(SPG7):c.663G>A (p.Lys221=)
|
rs575421836
|
0.00003
|
NM_003119.4(SPG7):c.734A>G (p.Tyr245Cys)
|
rs771172268
|
0.00003
|
NM_003119.4(SPG7):c.878C>T (p.Ala293Val)
|
rs201723702
|
0.00003
|
NM_003119.4(SPG7):c.1201G>A (p.Ala401Thr)
|
rs776587961
|
0.00002
|
NM_003119.4(SPG7):c.1596G>A (p.Ala532=)
|
rs752346853
|
0.00002
|
NM_003119.4(SPG7):c.1699G>A (p.Glu567Lys)
|
rs577389704
|
0.00002
|
NM_003119.4(SPG7):c.1775T>G (p.Met592Arg)
|
rs781314016
|
0.00002
|
NM_003119.4(SPG7):c.1795C>T (p.Arg599Trp)
|
rs764645740
|
0.00002
|
NM_003119.4(SPG7):c.185G>A (p.Ser62Asn)
|
rs143294686
|
0.00002
|
NM_003119.4(SPG7):c.2283G>A (p.Gln761=)
|
rs116035086
|
0.00002
|
NM_003119.4(SPG7):c.25C>T (p.Arg9Cys)
|
rs1368314619
|
0.00002
|
NM_003119.4(SPG7):c.359C>T (p.Ala120Val)
|
rs530877336
|
0.00002
|
NM_003119.4(SPG7):c.403G>A (p.Asp135Asn)
|
rs767820132
|
0.00002
|
NM_003119.4(SPG7):c.517G>A (p.Glu173Lys)
|
rs577497147
|
0.00002
|
NM_003119.4(SPG7):c.619-7C>A
|
rs779835775
|
0.00002
|
NM_003119.4(SPG7):c.*341A>G
|
rs772338990
|
0.00001
|
NM_003119.4(SPG7):c.*97G>A
|
rs886052475
|
0.00001
|
NM_003119.4(SPG7):c.*99G>A
|
rs953663004
|
0.00001
|
NM_003119.4(SPG7):c.1018A>G (p.Lys340Glu)
|
rs375684876
|
0.00001
|
NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser)
|
rs537421502
|
0.00001
|
NM_003119.4(SPG7):c.1055G>C (p.Gly352Ala)
|
rs1567914095
|
0.00001
|
NM_003119.4(SPG7):c.1067C>T (p.Thr356Met)
|
rs754903980
|
0.00001
|
NM_003119.4(SPG7):c.1073T>C (p.Leu358Pro)
|
rs997293950
|
0.00001
|
NM_003119.4(SPG7):c.1079A>G (p.Lys360Arg)
|
rs376803235
|
0.00001
|
NM_003119.4(SPG7):c.1115C>T (p.Ala372Val)
|
rs776176403
|
0.00001
|
NM_003119.4(SPG7):c.1175G>A (p.Ser392Asn)
|
rs745459731
|
0.00001
|
NM_003119.4(SPG7):c.1199G>A (p.Arg400Gln)
|
rs541757224
|
0.00001
|
NM_003119.4(SPG7):c.1234G>A (p.Ala412Thr)
|
rs779792728
|
0.00001
|
NM_003119.4(SPG7):c.1235C>T (p.Ala412Val)
|
rs746668495
|
0.00001
|
NM_003119.4(SPG7):c.1256C>T (p.Thr419Ile)
|
rs371504521
|
0.00001
|
NM_003119.4(SPG7):c.1295C>T (p.Thr432Met)
|
rs781129301
|
0.00001
|
NM_003119.4(SPG7):c.1378A>G (p.Ile460Val)
|
rs748873540
|
0.00001
|
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln)
|
rs756535079
|
0.00001
|
NM_003119.4(SPG7):c.1523G>A (p.Arg508His)
|
rs201733920
|
0.00001
|
NM_003119.4(SPG7):c.1664-11C>A
|
rs574656941
|
0.00001
|
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp)
|
rs1329063851
|
0.00001
|
NM_003119.4(SPG7):c.183+7C>T
|
rs1356178300
|
0.00001
|
NM_003119.4(SPG7):c.1929C>A (p.Val643=)
|
rs746082965
|
0.00001
|
NM_003119.4(SPG7):c.1959G>T (p.Lys653Asn)
|
rs775569150
|
0.00001
|
NM_003119.4(SPG7):c.1967G>A (p.Arg656His)
|
rs373143136
|
0.00001
|
NM_003119.4(SPG7):c.1972G>A (p.Ala658Thr)
|
rs2058661391
|
0.00001
|
NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys)
|
rs752257333
|
0.00001
|
NM_003119.4(SPG7):c.2148G>C (p.Lys716Asn)
|
rs776661222
|
0.00001
|
NM_003119.4(SPG7):c.2181G>A (p.Ala727=)
|
rs753423781
|
0.00001
|
NM_003119.4(SPG7):c.2182C>G (p.Leu728Val)
|
rs1433673841
|
0.00001
|
NM_003119.4(SPG7):c.2225A>G (p.Asp742Gly)
|
rs759329959
|
0.00001
|
NM_003119.4(SPG7):c.2293G>A (p.Asp765Asn)
|
rs374941242
|
0.00001
|
NM_003119.4(SPG7):c.2323G>A (p.Glu775Lys)
|
rs1293899912
|
0.00001
|
NM_003119.4(SPG7):c.2373G>A (p.Pro791=)
|
rs768453376
|
0.00001
|
NM_003119.4(SPG7):c.32T>C (p.Leu11Pro)
|
rs943187212
|
0.00001
|
NM_003119.4(SPG7):c.373G>A (p.Glu125Lys)
|
rs774326531
|
0.00001
|
NM_003119.4(SPG7):c.392G>A (p.Arg131His)
|
rs985921704
|
0.00001
|
NM_003119.4(SPG7):c.40G>A (p.Gly14Ser)
|
rs1242380690
|
0.00001
|
NM_003119.4(SPG7):c.416G>A (p.Arg139Gln)
|
rs948625936
|
0.00001
|
NM_003119.4(SPG7):c.529A>G (p.Lys177Glu)
|
rs1244544459
|
0.00001
|
NM_003119.4(SPG7):c.618+14C>T
|
rs574361328
|
0.00001
|
NM_003119.4(SPG7):c.682G>A (p.Ala228Thr)
|
rs375721189
|
0.00001
|
NM_003119.4(SPG7):c.703A>G (p.Ile235Val)
|
rs191022979
|
0.00001
|
NM_003119.4(SPG7):c.767A>T (p.Tyr256Phe)
|
rs773926412
|
0.00001
|
NM_003119.4(SPG7):c.817C>T (p.Arg273Cys)
|
rs748547018
|
0.00001
|
NM_003119.4(SPG7):c.861+5G>A
|
rs757333854
|
0.00001
|
NM_003119.4(SPG7):c.898G>A (p.Gly300Arg)
|
rs771060044
|
0.00001
|
NC_000016.10:g.(?_89508408)_(89532646_?)dup
|
|
|
NC_000016.9:g.(?_89574826)_(89583809_?)dup
|
|
|
NC_000016.9:g.(?_89574826)_(89623501_?)dup
|
|
|
NC_000016.9:g.(?_89579336)_(89579465_?)del
|
|
|
NC_000016.9:g.(?_89583809)_(89613188_?)dup
|
|
|
NM_003119.4(SPG7):c.*222G>A
|
rs2058697421
|
|
NM_003119.4(SPG7):c.100C>A (p.Pro34Thr)
|
|
|
NM_003119.4(SPG7):c.1012G>T (p.Gly338Cys)
|
|
|
NM_003119.4(SPG7):c.1013G>A (p.Gly338Asp)
|
|
|
NM_003119.4(SPG7):c.101C>T (p.Pro34Leu)
|
|
|
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)
|
rs368373840
|
|
NM_003119.4(SPG7):c.1048C>G (p.Pro350Ala)
|
rs199789849
|
|
NM_003119.4(SPG7):c.1048C>T (p.Pro350Ser)
|
rs199789849
|
|
NM_003119.4(SPG7):c.1064A>G (p.Lys355Arg)
|
|
|
NM_003119.4(SPG7):c.1085T>A (p.Val362Glu)
|
rs532511374
|
|
NM_003119.4(SPG7):c.1085T>G (p.Val362Gly)
|
|
|
NM_003119.4(SPG7):c.1102del (p.Val368fs)
|
rs1567914229
|
|
NM_003119.4(SPG7):c.1123G>A (p.Gly375Ser)
|
|
|
NM_003119.4(SPG7):c.1135G>A (p.Val379Met)
|
rs766085257
|
|
NM_003119.4(SPG7):c.1149A>T (p.Gly383=)
|
rs2058351028
|
|
NM_003119.4(SPG7):c.1150+17G>A
|
rs2058351380
|
|
NM_003119.4(SPG7):c.1169T>C (p.Val390Ala)
|
rs2058357964
|
|
NM_003119.4(SPG7):c.1193G>A (p.Arg398Gln)
|
rs771782004
|
|
NM_003119.4(SPG7):c.1193G>T (p.Arg398Leu)
|
rs771782004
|
|
NM_003119.4(SPG7):c.11T>C (p.Leu4Pro)
|
|
|
NM_003119.4(SPG7):c.1217A>G (p.Tyr406Cys)
|
|
|
NM_003119.4(SPG7):c.1219A>C (p.Ile407Leu)
|
|
|
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn)
|
rs745444834
|
|
NM_003119.4(SPG7):c.1238T>A (p.Val413Glu)
|
rs1244749062
|
|
NM_003119.4(SPG7):c.1241G>A (p.Gly414Asp)
|
|
|
NM_003119.4(SPG7):c.1249C>T (p.Arg417Cys)
|
|
|
NM_003119.4(SPG7):c.124C>T (p.Pro42Ser)
|
|
|
NM_003119.4(SPG7):c.1257C>G (p.Thr419=)
|
rs766401031
|
|
NM_003119.4(SPG7):c.1301A>G (p.Asn434Ser)
|
|
|
NM_003119.4(SPG7):c.1324+7G>A
|
|
|
NM_003119.4(SPG7):c.132G>A (p.Met44Ile)
|
|
|
NM_003119.4(SPG7):c.132G>T (p.Met44Ile)
|
|
|
NM_003119.4(SPG7):c.1354C>T (p.Leu452=)
|
rs2058540705
|
|
NM_003119.4(SPG7):c.1358C>T (p.Ala453Val)
|
|
|
NM_003119.4(SPG7):c.1361C>T (p.Ser454Phe)
|
|
|
NM_003119.4(SPG7):c.1363A>C (p.Thr455Pro)
|
rs2152409117
|
|
NM_003119.4(SPG7):c.1387G>A (p.Gly463Ser)
|
|
|
NM_003119.4(SPG7):c.1412T>C (p.Leu471Pro)
|
|
|
NM_003119.4(SPG7):c.1418G>A (p.Arg473Gln)
|
|
|
NM_003119.4(SPG7):c.141G>A (p.Arg47=)
|
rs886052473
|
|
NM_003119.4(SPG7):c.1420C>T (p.His474Tyr)
|
rs1567926386
|
|
NM_003119.4(SPG7):c.1421A>C (p.His474Pro)
|
|
|
NM_003119.4(SPG7):c.1422C>G (p.His474Gln)
|
rs201482100
|
|
NM_003119.4(SPG7):c.1433_1441del (p.Asp478_Thr481delinsAla)
|
|
|
NM_003119.4(SPG7):c.1442C>T (p.Thr481Met)
|
rs376713807
|
|
NM_003119.4(SPG7):c.1449+6_1449+7del
|
|
|
NM_003119.4(SPG7):c.1456C>T (p.Arg486Trp)
|
|
|
NM_003119.4(SPG7):c.1460A>C (p.Glu487Ala)
|
|
|
NM_003119.4(SPG7):c.146C>T (p.Pro49Leu)
|
|
|
NM_003119.4(SPG7):c.1508C>T (p.Thr503Ile)
|
|
|
NM_003119.4(SPG7):c.1543G>C (p.Gly515Arg)
|
rs972175989
|
|
NM_003119.4(SPG7):c.1552+4C>T
|
|
|
NM_003119.4(SPG7):c.1555G>C (p.Ala519Pro)
|
rs1423182372
|
|
NM_003119.4(SPG7):c.1563C>G (p.Ile521Met)
|
|
|
NM_003119.4(SPG7):c.1564G>A (p.Ala522Thr)
|
rs540602203
|
|
NM_003119.4(SPG7):c.1568A>T (p.Asn523Ile)
|
rs974972989
|
|
NM_003119.4(SPG7):c.1595C>G (p.Ala532Gly)
|
|
|
NM_003119.4(SPG7):c.1595C>T (p.Ala532Val)
|
|
|
NM_003119.4(SPG7):c.1616C>G (p.Ser539Cys)
|
|
|
NM_003119.4(SPG7):c.161A>T (p.Glu54Val)
|
rs750617337
|
|
NM_003119.4(SPG7):c.1622A>G (p.His541Arg)
|
|
|
NM_003119.4(SPG7):c.1639T>G (p.Tyr547Asp)
|
rs886052474
|
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NM_003119.4(SPG7):c.1642G>A (p.Ala548Thr)
|
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|
NM_003119.4(SPG7):c.1645G>A (p.Val549Met)
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|
NM_003119.4(SPG7):c.164C>A (p.Ala55Asp)
|
rs2057963306
|
|
NM_003119.4(SPG7):c.1651C>T (p.Arg551Cys)
|
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|
NM_003119.4(SPG7):c.1652G>C (p.Arg551Pro)
|
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|
NM_003119.4(SPG7):c.167G>A (p.Gly56Glu)
|
rs11559074
|
|
NM_003119.4(SPG7):c.1686C>G (p.Ile562Met)
|
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|
NM_003119.4(SPG7):c.1699G>C (p.Glu567Gln)
|
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|
NM_003119.4(SPG7):c.1701A>T (p.Glu567Asp)
|
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|
NM_003119.4(SPG7):c.1705A>C (p.Lys569Gln)
|
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|
NM_003119.4(SPG7):c.1711G>T (p.Val571Phe)
|
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|
NM_003119.4(SPG7):c.1712T>C (p.Val571Ala)
|
rs2152411078
|
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NM_003119.4(SPG7):c.1720C>T (p.His574Tyr)
|
rs2058623878
|
|
NM_003119.4(SPG7):c.1740G>T (p.Leu580Phe)
|
rs115658934
|
|
NM_003119.4(SPG7):c.1745G>T (p.Gly582Val)
|
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|
NM_003119.4(SPG7):c.1756G>C (p.Glu586Gln)
|
rs1035143808
|
|
NM_003119.4(SPG7):c.1763C>T (p.Thr588Met)
|
rs778387199
|
|
NM_003119.4(SPG7):c.1769C>A (p.Ala590Asp)
|
|
|
NM_003119.4(SPG7):c.1779+5G>T
|
rs1567931957
|
|
NM_003119.4(SPG7):c.1796G>T (p.Arg599Leu)
|
rs149749852
|
|
NM_003119.4(SPG7):c.1797G>T (p.Arg599=)
|
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|
NM_003119.4(SPG7):c.1844A>G (p.His615Arg)
|
rs2152411864
|
|
NM_003119.4(SPG7):c.184A>C (p.Ser62Arg)
|
|
|
NM_003119.4(SPG7):c.1853C>T (p.Thr618Ile)
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NM_003119.4(SPG7):c.1858G>C (p.Glu620Gln)
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NM_003119.4(SPG7):c.1873C>T (p.Arg625Trp)
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|
NM_003119.4(SPG7):c.1879T>C (p.Cys627Arg)
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|
NM_003119.4(SPG7):c.1897C>T (p.Arg633Trp)
|
rs1350253332
|
|
NM_003119.4(SPG7):c.1898G>A (p.Arg633Gln)
|
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|
NM_003119.4(SPG7):c.1907A>C (p.Glu636Ala)
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NM_003119.4(SPG7):c.1923C>T (p.Asn641=)
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NM_003119.4(SPG7):c.1927G>A (p.Val643Ile)
|
rs778965259
|
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NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile)
|
rs758702550
|
|
NM_003119.4(SPG7):c.1967G>C (p.Arg656Pro)
|
rs373143136
|
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NM_003119.4(SPG7):c.1969A>G (p.Ile657Val)
|
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|
NM_003119.4(SPG7):c.1991A>C (p.Gln664Pro)
|
|
|
NM_003119.4(SPG7):c.2021T>C (p.Ile674Thr)
|
rs2152412186
|
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NM_003119.4(SPG7):c.2027T>C (p.Phe676Ser)
|
rs2058661946
|
|
NM_003119.4(SPG7):c.2059G>A (p.Gly687Arg)
|
|
|
NM_003119.4(SPG7):c.2059_2076del (p.Gly687_Ser692del)
|
rs1597665192
|
|
NM_003119.4(SPG7):c.2066G>A (p.Arg689His)
|
rs148199060
|
|
NM_003119.4(SPG7):c.2074A>G (p.Ser692Gly)
|
|
|
NM_003119.4(SPG7):c.2083C>T (p.Leu695=)
|
rs754203248
|
|
NM_003119.4(SPG7):c.2096T>C (p.Met699Thr)
|
|
|
NM_003119.4(SPG7):c.2099A>G (p.Asp700Gly)
|
|
|
NM_003119.4(SPG7):c.2102A>G (p.His701Arg)
|
rs372180825
|
|
NM_003119.4(SPG7):c.2123C>T (p.Ala708Val)
|
|
|
NM_003119.4(SPG7):c.2128G>A (p.Ala710Thr)
|
rs2152412371
|
|
NM_003119.4(SPG7):c.2131T>G (p.Tyr711Asp)
|
rs2058667749
|
|
NM_003119.4(SPG7):c.2143G>C (p.Glu715Gln)
|
|
|
NM_003119.4(SPG7):c.2149G>A (p.Val717Met)
|
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|
NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp)
|
rs2152412388
|
|
NM_003119.4(SPG7):c.2163C>G (p.Asn721Lys)
|
|
|
NM_003119.4(SPG7):c.2197C>A (p.Leu733Met)
|
|
|
NM_003119.4(SPG7):c.2218T>G (p.Tyr740Asp)
|
|
|
NM_003119.4(SPG7):c.2240T>C (p.Ile747Thr)
|
|
|
NM_003119.4(SPG7):c.2241T>G (p.Ile747Met)
|
rs2152413170
|
|
NM_003119.4(SPG7):c.2248C>T (p.Pro750Ser)
|
|
|
NM_003119.4(SPG7):c.2252C>A (p.Pro751His)
|
|
|
NM_003119.4(SPG7):c.2272A>G (p.Ile758Val)
|
rs1597668767
|
|
NM_003119.4(SPG7):c.2279C>T (p.Pro760Leu)
|
|
|
NM_003119.4(SPG7):c.2281C>T (p.Gln761Ter)
|
|
|
NM_003119.4(SPG7):c.2290A>G (p.Ile764Val)
|
rs942740771
|
|
NM_003119.4(SPG7):c.2296G>A (p.Ala766Thr)
|
|
|
NM_003119.4(SPG7):c.2316C>G (p.Asp772Glu)
|
|
|
NM_003119.4(SPG7):c.2326G>T (p.Glu776Ter)
|
|
|
NM_003119.4(SPG7):c.232TTG[2] (p.Leu80del)
|
rs527363502
|
|
NM_003119.4(SPG7):c.2350C>T (p.Pro784Ser)
|
|
|
NM_003119.4(SPG7):c.2365G>A (p.Glu789Lys)
|
rs372033226
|
|
NM_003119.4(SPG7):c.2365G>C (p.Glu789Gln)
|
|
|
NM_003119.4(SPG7):c.2365G>T (p.Glu789Ter)
|
rs372033226
|
|
NM_003119.4(SPG7):c.2372C>G (p.Pro791Arg)
|
|
|
NM_003119.4(SPG7):c.2387A>G (p.Ter796Trp)
|
|
|
NM_003119.4(SPG7):c.248A>G (p.His83Arg)
|
|
|
NM_003119.4(SPG7):c.270A>C (p.Arg90Ser)
|
|
|
NM_003119.4(SPG7):c.286+3A>G
|
rs201056405
|
|
NM_003119.4(SPG7):c.28G>A (p.Ala10Thr)
|
|
|
NM_003119.4(SPG7):c.28G>T (p.Ala10Ser)
|
rs577872969
|
|
NM_003119.4(SPG7):c.297C>G (p.Phe99Leu)
|
|
|
NM_003119.4(SPG7):c.308C>A (p.Thr103Asn)
|
rs746764772
|
|
NM_003119.4(SPG7):c.347C>G (p.Ser116Trp)
|
|
|
NM_003119.4(SPG7):c.353G>A (p.Gly118Glu)
|
|
|
NM_003119.4(SPG7):c.355A>C (p.Lys119Gln)
|
|
|
NM_003119.4(SPG7):c.375A>C (p.Glu125Asp)
|
|
|
NM_003119.4(SPG7):c.377-39A>C
|
rs1192753029
|
|
NM_003119.4(SPG7):c.377-7G>A
|
|
|
NM_003119.4(SPG7):c.389G>A (p.Arg130His)
|
|
|
NM_003119.4(SPG7):c.395A>C (p.Glu132Ala)
|
|
|
NM_003119.4(SPG7):c.413A>C (p.Tyr138Ser)
|
rs377268309
|
|
NM_003119.4(SPG7):c.439G>A (p.Val147Ile)
|
|
|
NM_003119.4(SPG7):c.463C>A (p.Leu155Met)
|
|
|
NM_003119.4(SPG7):c.466_468dup (p.Asn156_Ala157insAsn)
|
|
|
NM_003119.4(SPG7):c.495T>G (p.Ile165Met)
|
|
|
NM_003119.4(SPG7):c.50C>G (p.Pro17Arg)
|
rs956304326
|
|
NM_003119.4(SPG7):c.50C>T (p.Pro17Leu)
|
|
|
NM_003119.4(SPG7):c.52G>A (p.Gly18Ser)
|
|
|
NM_003119.4(SPG7):c.535G>C (p.Glu179Gln)
|
|
|
NM_003119.4(SPG7):c.538G>A (p.Val180Met)
|
|
|
NM_003119.4(SPG7):c.544C>T (p.Arg182Cys)
|
|
|
NM_003119.4(SPG7):c.560C>T (p.Pro187Leu)
|
rs2152399546
|
|
NM_003119.4(SPG7):c.598G>A (p.Ala200Thr)
|
|
|
NM_003119.4(SPG7):c.618+14_618+36del
|
|
|
NM_003119.4(SPG7):c.619-3C>G
|
rs199740629
|
|
NM_003119.4(SPG7):c.620G>A (p.Arg207Gln)
|
|
|
NM_003119.4(SPG7):c.66G>C (p.Leu22=)
|
rs1167383291
|
|
NM_003119.4(SPG7):c.696G>T (p.Glu232Asp)
|
|
|
NM_003119.4(SPG7):c.724C>A (p.Pro242Thr)
|
|
|
NM_003119.4(SPG7):c.730T>G (p.Ser244Ala)
|
|
|
NM_003119.4(SPG7):c.740G>A (p.Arg247Gln)
|
|
|
NM_003119.4(SPG7):c.746G>A (p.Gly249Glu)
|
|
|
NM_003119.4(SPG7):c.758+4T>C
|
rs2058261955
|
|
NM_003119.4(SPG7):c.759-11_759-8del
|
rs758385553
|
|
NM_003119.4(SPG7):c.759-11del
|
|
|
NM_003119.4(SPG7):c.759-15T>G
|
|
|
NM_003119.4(SPG7):c.759-5G>A
|
|
|
NM_003119.4(SPG7):c.763C>T (p.Leu255=)
|
rs2058311848
|
|
NM_003119.4(SPG7):c.764T>A (p.Leu255Gln)
|
rs2058311875
|
|
NM_003119.4(SPG7):c.784G>C (p.Ala262Pro)
|
rs2152402052
|
|
NM_003119.4(SPG7):c.80C>A (p.Pro27Gln)
|
|
|
NM_003119.4(SPG7):c.826G>A (p.Gly276Arg)
|
|
|
NM_003119.4(SPG7):c.829A>T (p.Met277Leu)
|
rs909738481
|
|
NM_003119.4(SPG7):c.847G>A (p.Gly283Arg)
|
rs2058313221
|
|
NM_003119.4(SPG7):c.861+6T>C
|
rs765178985
|
|
NM_003119.4(SPG7):c.861T>C (p.Phe287=)
|
|
|
NM_003119.4(SPG7):c.862-3C>T
|
|
|
NM_003119.4(SPG7):c.872A>G (p.Lys291Arg)
|
|
|
NM_003119.4(SPG7):c.90T>G (p.Ser30Arg)
|
|
|
NM_003119.4(SPG7):c.931G>A (p.Val311Met)
|
|
|
NM_003119.4(SPG7):c.942G>C (p.Met314Ile)
|
|
|
NM_003119.4(SPG7):c.943C>T (p.His315Tyr)
|
|
|
NM_003119.4(SPG7):c.946G>A (p.Glu316Lys)
|
|
|
NM_003119.4(SPG7):c.947A>G (p.Glu316Gly)
|
|
|
NM_003119.4(SPG7):c.950C>T (p.Ala317Val)
|
|
|
NM_003119.4(SPG7):c.964C>T (p.Arg322Cys)
|
rs201096554
|
|
NM_003119.4(SPG7):c.967G>A (p.Glu323Lys)
|
|
|
NM_003119.4(SPG7):c.970T>C (p.Phe324Leu)
|
|
|
NM_003119.4(SPG7):c.983T>C (p.Leu328Pro)
|
rs1555612612
|
|
NM_003119.4(SPG7):c.987+5A>C
|
rs4785691
|
|
NM_003119.4(SPG7):c.988-17T>C
|
|
|
NM_003119.4(SPG7):c.988-7C>T
|
|
|
NM_003119.4(SPG7):c.99C>G (p.Phe33Leu)
|
rs1331243813
|
|
NM_003119.4(SPG7):c.9GCT[6] (p.Leu8dup)
|
rs781285980
|
|
NM_003119.4(SPG7):c.9GCT[8] (p.Leu8_Arg9insLeuLeuLeu)
|
|
|