NM_025137.4(SPG11):c.667+5C>T
|
rs375485062
|
0.00017
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)
|
rs141263564
|
0.00006
|
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)
|
rs140385286
|
0.00005
|
NM_025137.4(SPG11):c.2431C>T (p.Gln811Ter)
|
rs756134516
|
0.00005
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
NM_025137.4(SPG11):c.1348dup (p.Ile450fs)
|
rs312262725
|
0.00004
|
NM_025137.4(SPG11):c.3664_3665insT (p.Lys1222fs)
|
rs312262755
|
0.00004
|
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)
|
rs118203963
|
0.00003
|
NM_025137.4(SPG11):c.616dup (p.Thr206fs)
|
rs756103019
|
0.00003
|
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter)
|
rs199588440
|
0.00002
|
NM_025137.4(SPG11):c.2317-13C>G
|
rs372670941
|
0.00002
|
NM_025137.4(SPG11):c.4746_4747insTG (p.Asn1583Ter)
|
rs764186203
|
0.00002
|
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)
|
rs141848292
|
0.00002
|
NM_025137.4(SPG11):c.704_705del (p.His235fs)
|
rs312262719
|
0.00002
|
NM_025137.4(SPG11):c.1457-2A>G
|
rs312262726
|
0.00001
|
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter)
|
rs312262728
|
0.00001
|
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter)
|
rs765061840
|
0.00001
|
NM_025137.4(SPG11):c.2316+1G>A
|
rs312262740
|
0.00001
|
NM_025137.4(SPG11):c.255G>A (p.Trp85Ter)
|
rs957519261
|
0.00001
|
NM_025137.4(SPG11):c.2612dup (p.Ser871fs)
|
rs750101275
|
0.00001
|
NM_025137.4(SPG11):c.3121C>T (p.Arg1041Ter)
|
rs771813705
|
0.00001
|
NM_025137.4(SPG11):c.3510del (p.Ala1171fs)
|
rs1363959441
|
0.00001
|
NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs)
|
rs1459810136
|
0.00001
|
NM_025137.4(SPG11):c.4075del (p.Ile1359fs)
|
rs1405032433
|
0.00001
|
NM_025137.4(SPG11):c.4790G>A (p.Trp1597Ter)
|
rs753920931
|
0.00001
|
NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter)
|
rs368276916
|
0.00001
|
NM_025137.4(SPG11):c.4939C>T (p.Gln1647Ter)
|
rs959026057
|
0.00001
|
NM_025137.4(SPG11):c.5158C>T (p.Gln1720Ter)
|
rs1060501173
|
0.00001
|
NM_025137.4(SPG11):c.5322del (p.Leu1775fs)
|
rs2082714895
|
0.00001
|
NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter)
|
rs312262767
|
0.00001
|
NM_025137.4(SPG11):c.5757_5758del (p.Glu1921fs)
|
rs771558571
|
0.00001
|
NM_025137.4(SPG11):c.5772_5781dup (p.His1928fs)
|
rs779321661
|
0.00001
|
NM_025137.4(SPG11):c.5866+1G>A
|
rs765725393
|
0.00001
|
NM_025137.4(SPG11):c.5925_5934dup (p.Val1979Ter)
|
rs749652788
|
0.00001
|
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)
|
rs200793464
|
0.00001
|
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs)
|
rs312262775
|
0.00001
|
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter)
|
rs769898852
|
0.00001
|
NM_025137.4(SPG11):c.6724C>T (p.Gln2242Ter)
|
rs866400911
|
0.00001
|
NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter)
|
rs312262785
|
0.00001
|
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro)
|
rs371334506
|
0.00001
|
NM_025137.4(SPG11):c.7115T>A (p.Leu2372Ter)
|
rs762984907
|
0.00001
|
NM_025137.4(SPG11):c.7138G>T (p.Glu2380Ter)
|
rs369467143
|
0.00001
|
NM_025137.4(SPG11):c.7152-1G>C
|
rs200079802
|
0.00001
|
NM_025137.4(SPG11):c.796C>T (p.Gln266Ter)
|
rs1234882277
|
0.00001
|
NC_000015.10:g.(?_44570505)_(44575061_?)del
|
|
|
NC_000015.10:g.(?_44570525)_(44570658_?)del
|
|
|
NC_000015.10:g.(?_44570525)_(44575041_?)del
|
|
|
NC_000015.10:g.(?_44572663)_(44575061_?)del
|
|
|
NC_000015.10:g.(?_44572673)_(44575051_?)del
|
|
|
NC_000015.10:g.(?_44595249)_(44600642_?)del
|
|
|
NC_000015.10:g.(?_44595249)_(44663657_?)del
|
|
|
NC_000015.10:g.(?_44648856)_(44663657_?)del
|
|
|
NC_000015.9:g.(?_44855319)_(44952834_?)del
|
|
|
NC_000015.9:g.(?_44862703)_(44862876_?)del
|
|
|
NC_000015.9:g.(?_44862713)_(44867249_?)del
|
|
|
NC_000015.9:g.(?_44876002)_(44876766_?)del
|
|
|
NC_000015.9:g.(?_44877814)_(44878413_?)del
|
|
|
NC_000015.9:g.(?_44881444)_(44925841_?)dup
|
|
|
NC_000015.9:g.(?_44884509)_(44884656_?)del
|
|
|
NC_000015.9:g.(?_44887437)_(44892850_?)del
|
|
|
NC_000015.9:g.(?_44888261)_(44892850_?)del
|
|
|
NC_000015.9:g.(?_44890443)_(44890591_?)del
|
|
|
NC_000015.9:g.(?_44898203)_(44907784_?)del
|
|
|
NC_000015.9:g.(?_44912368)_(44925855_?)del
|
|
|
NC_000015.9:g.(?_44918519)_(44921596_?)del
|
|
|
NC_000015.9:g.(?_44941044)_(44944484_?)del
|
|
|
NC_000015.9:g.(?_44941054)_(44944474_?)del
|
|
|
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs)
|
rs312262764
|
|
NM_025137.4(SPG11):c.1013G>A (p.Trp338Ter)
|
|
|
NM_025137.4(SPG11):c.1021C>T (p.Gln341Ter)
|
|
|
NM_025137.4(SPG11):c.1090C>T (p.Gln364Ter)
|
rs2141107140
|
|
NM_025137.4(SPG11):c.111_150delinsTC (p.Met38fs)
|
rs2141138493
|
|
NM_025137.4(SPG11):c.1142_1143del (p.Val381fs)
|
rs2141106935
|
|
NM_025137.4(SPG11):c.1144C>T (p.Gln382Ter)
|
|
|
NM_025137.4(SPG11):c.1151G>A (p.Trp384Ter)
|
|
|
NM_025137.4(SPG11):c.1152G>A (p.Trp384Ter)
|
rs2084787275
|
|
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)
|
rs267607084
|
|
NM_025137.4(SPG11):c.1203del (p.Asp402fs)
|
rs312262722
|
|
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)
|
rs312262723
|
|
NM_025137.4(SPG11):c.1261C>T (p.Gln421Ter)
|
|
|
NM_025137.4(SPG11):c.1275dup (p.Glu426fs)
|
rs2141106403
|
|
NM_025137.4(SPG11):c.1326dup (p.Val443fs)
|
|
|
NM_025137.4(SPG11):c.136C>T (p.Gln46Ter)
|
|
|
NM_025137.4(SPG11):c.142dup (p.Arg48fs)
|
|
|
NM_025137.4(SPG11):c.1471_1472del (p.Leu491fs)
|
rs312262727
|
|
NM_025137.4(SPG11):c.1478T>A (p.Leu493Ter)
|
|
|
NM_025137.4(SPG11):c.1478_1482del (p.Leu493fs)
|
rs758015273
|
|
NM_025137.4(SPG11):c.1482del (p.Phe494fs)
|
|
|
NM_025137.4(SPG11):c.154G>T (p.Glu52Ter)
|
|
|
NM_025137.4(SPG11):c.1551_1552del (p.Cys518fs)
|
rs312262730
|
|
NM_025137.4(SPG11):c.1580C>G (p.Ser527Ter)
|
|
|
NM_025137.4(SPG11):c.1593dup (p.Ala532fs)
|
rs2141098660
|
|
NM_025137.4(SPG11):c.1603-1G>C
|
|
|
NM_025137.4(SPG11):c.1654_1655insGGAAAATCTTTTTTTTTTTTTTTTTTTTTNNNNNNNNGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGA (p.Ser551_Lys552insArgLysIlePhePhePhePhePhePhePheXaaXaaXaaGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGly)
|
rs2141056921
|
|
NM_025137.4(SPG11):c.1668_1669insSVAelement
|
|
|
NM_025137.4(SPG11):c.1697_1710delinsTCATCCCAT (p.Asp566fs)
|
|
|
NM_025137.4(SPG11):c.1735+3_1735+6del
|
rs312262734
|
|
NM_025137.4(SPG11):c.1818_1819del (p.Ser607fs)
|
rs1220982145
|
|
NM_025137.4(SPG11):c.1825C>T (p.Gln609Ter)
|
|
|
NM_025137.4(SPG11):c.1841del (p.Thr614fs)
|
|
|
NM_025137.4(SPG11):c.1891+1G>T
|
rs532072204
|
|
NM_025137.4(SPG11):c.1909C>T (p.Gln637Ter)
|
|
|
NM_025137.4(SPG11):c.1999G>T (p.Glu667Ter)
|
|
|
NM_025137.4(SPG11):c.202_203dup (p.Leu68fs)
|
rs773773579
|
|
NM_025137.4(SPG11):c.2038_2039dup (p.Ser680fs)
|
rs1595898055
|
|
NM_025137.4(SPG11):c.2052_2055del (p.Lys684fs)
|
|
|
NM_025137.4(SPG11):c.2123del (p.Phe708fs)
|
|
|
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)
|
rs312262737
|
|
NM_025137.4(SPG11):c.2163dup (p.Ile722fs)
|
rs312262738
|
|
NM_025137.4(SPG11):c.218_221dup (p.Gly76fs)
|
rs2141138155
|
|
NM_025137.4(SPG11):c.2198del (p.Asn732_Leu733insTer)
|
|
|
NM_025137.4(SPG11):c.2230del (p.Leu744fs)
|
|
|
NM_025137.4(SPG11):c.2265del (p.Gln755fs)
|
rs1215058780
|
|
NM_025137.4(SPG11):c.2331del (p.Glu778fs)
|
rs863224524
|
|
NM_025137.4(SPG11):c.2336_2339del (p.Lys779fs)
|
rs1454768655
|
|
NM_025137.4(SPG11):c.2356G>T (p.Glu786Ter)
|
|
|
NM_025137.4(SPG11):c.2387_2388dup (p.Glu797fs)
|
|
|
NM_025137.4(SPG11):c.2444+1G>A
|
rs312262743
|
|
NM_025137.4(SPG11):c.2444+1G>C
|
rs312262743
|
|
NM_025137.4(SPG11):c.2444G>A (p.Arg815Lys)
|
|
|
NM_025137.4(SPG11):c.2471dup (p.Lys825fs)
|
|
|
NM_025137.4(SPG11):c.2523del (p.Glu841fs)
|
|
|
NM_025137.4(SPG11):c.2536dup (p.Asp846fs)
|
rs2141027919
|
|
NM_025137.4(SPG11):c.2568G>A (p.Trp856Ter)
|
|
|
NM_025137.4(SPG11):c.257+1G>A
|
|
|
NM_025137.4(SPG11):c.2625C>G (p.Tyr875Ter)
|
|
|
NM_025137.4(SPG11):c.2678G>A (p.Trp893Ter)
|
rs1555455266
|
|
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)
|
rs312262709
|
|
NM_025137.4(SPG11):c.2716del (p.Gln906fs)
|
rs312262747
|
|
NM_025137.4(SPG11):c.2737C>T (p.Gln913Ter)
|
rs1555455246
|
|
NM_025137.4(SPG11):c.276_285del (p.Arg93fs)
|
rs747220413
|
|
NM_025137.4(SPG11):c.2802del (p.Asn933_Tyr934insTer)
|
|
|
NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly)
|
rs312262748
|
|
NM_025137.4(SPG11):c.2849del (p.Leu950fs)
|
rs1470463921
|
|
NM_025137.4(SPG11):c.2849dup (p.Leu950fs)
|
rs1470463921
|
|
NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter)
|
rs372906057
|
|
NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter)
|
rs786204176
|
|
NM_025137.4(SPG11):c.2914C>T (p.Gln972Ter)
|
|
|
NM_025137.4(SPG11):c.2983dup (p.Tyr995fs)
|
|
|
NM_025137.4(SPG11):c.2985T>G (p.Tyr995Ter)
|
|
|
NM_025137.4(SPG11):c.2990T>A (p.Leu997Ter)
|
rs1060501176
|
|
NM_025137.4(SPG11):c.3000del (p.Leu1001fs)
|
rs1555454488
|
|
NM_025137.4(SPG11):c.3019dup (p.Val1007fs)
|
|
|
NM_025137.4(SPG11):c.3034del (p.Tyr1012fs)
|
rs2141014662
|
|
NM_025137.4(SPG11):c.3036C>G (p.Tyr1012Ter)
|
|
|
NM_025137.4(SPG11):c.3042dup (p.Ser1015Ter)
|
|
|
NM_025137.4(SPG11):c.3067G>T (p.Glu1023Ter)
|
|
|
NM_025137.4(SPG11):c.3070A>T (p.Lys1024Ter)
|
rs1157530441
|
|
NM_025137.4(SPG11):c.3074_3077del (p.Lys1025fs)
|
rs746971952
|
|
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)
|
rs312262752
|
|
NM_025137.4(SPG11):c.3077_3078del (p.Glu1026fs)
|
|
|
NM_025137.4(SPG11):c.3110dup (p.Leu1037fs)
|
rs2141011028
|
|
NM_025137.4(SPG11):c.3140T>G (p.Leu1047Ter)
|
rs2141010951
|
|
NM_025137.4(SPG11):c.3143_3144dup (p.Asp1049fs)
|
|
|
NM_025137.4(SPG11):c.3175_3176delinsTG (p.Ala1059Ter)
|
|
|
NM_025137.4(SPG11):c.3184C>T (p.Gln1062Ter)
|
rs370252831
|
|
NM_025137.4(SPG11):c.3192del (p.Ile1065fs)
|
rs1595878941
|
|
NM_025137.4(SPG11):c.3213_3214insCCCT (p.Val1072fs)
|
rs767798272
|
|
NM_025137.4(SPG11):c.3289C>T (p.Gln1097Ter)
|
|
|
NM_025137.4(SPG11):c.3291+1G>T
|
rs312262753
|
|
NM_025137.4(SPG11):c.3311dup (p.Asn1104fs)
|
rs753257469
|
|
NM_025137.4(SPG11):c.3321_3324del (p.Asn1106_Cys1107insTer)
|
rs768131119
|
|
NM_025137.4(SPG11):c.3340C>T (p.Gln1114Ter)
|
|
|
NM_025137.4(SPG11):c.3410dup (p.Pro1137_Ser1138insTer)
|
rs1470512931
|
|
NM_025137.4(SPG11):c.349G>T (p.Glu117Ter)
|
rs312262711
|
|
NM_025137.4(SPG11):c.3514dup (p.Ile1172fs)
|
|
|
NM_025137.4(SPG11):c.3527G>A (p.Trp1176Ter)
|
|
|
NM_025137.4(SPG11):c.3573dup (p.Ala1192fs)
|
rs2140982382
|
|
NM_025137.4(SPG11):c.3662_3665del (p.Ile1221fs)
|
|
|
NM_025137.4(SPG11):c.3691C>T (p.Gln1231Ter)
|
|
|
NM_025137.4(SPG11):c.3711dup (p.Tyr1238fs)
|
rs750663981
|
|
NM_025137.4(SPG11):c.3736_3746del (p.His1246fs)
|
rs2140978275
|
|
NM_025137.4(SPG11):c.3741dup (p.Pro1248fs)
|
rs312262757
|
|
NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp)
|
rs1555451521
|
|
NM_025137.4(SPG11):c.3909del (p.Lys1303fs)
|
rs2140977221
|
|
NM_025137.4(SPG11):c.3980_3986del (p.Ile1327fs)
|
|
|
NM_025137.4(SPG11):c.3997A>T (p.Lys1333Ter)
|
rs2140976871
|
|
NM_025137.4(SPG11):c.3998del (p.Lys1333fs)
|
|
|
NM_025137.4(SPG11):c.4043dup (p.Phe1349fs)
|
rs2083058016
|
|
NM_025137.4(SPG11):c.4065dup (p.Lys1356fs)
|
|
|
NM_025137.4(SPG11):c.4072del (p.Ser1358fs)
|
|
|
NM_025137.4(SPG11):c.4107_4109delinsAG (p.Asn1369fs)
|
|
|
NM_025137.4(SPG11):c.419del (p.Lys140fs)
|
|
|
NM_025137.4(SPG11):c.4339C>T (p.Gln1447Ter)
|
|
|
NM_025137.4(SPG11):c.433dup (p.Gln145fs)
|
rs780266075
|
|
NM_025137.4(SPG11):c.4365G>A (p.Trp1455Ter)
|
rs138103656
|
|
NM_025137.4(SPG11):c.442+1G>A
|
|
|
NM_025137.4(SPG11):c.442+1G>C
|
rs312262715
|
|
NM_025137.4(SPG11):c.4432C>T (p.Gln1478Ter)
|
rs2140971559
|
|
NM_025137.4(SPG11):c.4435-2A>G
|
rs1555450825
|
|
NM_025137.4(SPG11):c.4453_4458delinsGAGGCCAGAACACTGAGGATAGGGGCCTGTTGTTTCACTGCTTCAACCAGAAGCCAGTGCCAGGAGTCTGGCTCCTCTGAGCATTGGAGCAGAATTTCAAATAAATCGGTCATCTCTTGTTTGCTTCCTTGAAGTTCCTGGGGGCACTTATTGCAGACTTGATCGCTGTCCATTTTGGAGGTGGGCACTGAGGGCAAGTTCTCAAAAGCCAGCCTTAAGTGGTCTTGAATGACTGGGCTGAAGTACTGGATAAGGGATTTCACCTAGAAGGCATATCAGATGATTAAACAGAAACCCAACTTTCAGTTTCAGCTGGAGCTGAAAATGTTAGAGAAAAGCATAGACAAAATTATGCTTTCTCACCCTGAACTAAGTCAGAGTGACTATTATGTAATTTTACAAAGCTGTA (p.Cys1485_Leu1486delinsGluAlaArgThrLeuArgIleGlyAlaCysCysPheThrAlaSerThrArgSerGlnCysGlnGluSerGlySerSerGluHisTrpSerArgIleSerAsnLysSerValIleSerCysLeuLeuProTer)
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NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs)
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rs587777921
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NM_025137.4(SPG11):c.4534dup (p.Asp1512fs)
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NM_025137.4(SPG11):c.4562C>G (p.Ser1521Ter)
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rs1337761270
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NM_025137.4(SPG11):c.4591C>T (p.Gln1531Ter)
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rs1362530862
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NM_025137.4(SPG11):c.460_461del (p.Leu154fs)
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rs1595938132
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NM_025137.4(SPG11):c.4621C>T (p.Gln1541Ter)
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rs2140969609
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NM_025137.4(SPG11):c.4673del (p.Leu1558fs)
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rs2140963289
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NM_025137.4(SPG11):c.4699_4700del (p.Glu1567fs)
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rs2082923260
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NM_025137.4(SPG11):c.4725dup (p.Gln1576fs)
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NM_025137.4(SPG11):c.4768del (p.His1590fs)
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NM_025137.4(SPG11):c.4773dup (p.Val1592fs)
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rs1064795062
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NM_025137.4(SPG11):c.4777del (p.Ile1593fs)
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rs1064797055
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NM_025137.4(SPG11):c.4798dup (p.Asp1600fs)
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NM_025137.4(SPG11):c.4811dup (p.Leu1605fs)
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rs760618394
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NM_025137.4(SPG11):c.4813del (p.Leu1605fs)
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rs2082844329
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NM_025137.4(SPG11):c.4817del (p.Leu1605_Leu1606insTer)
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NM_025137.4(SPG11):c.4830dup (p.Gln1611fs)
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NM_025137.4(SPG11):c.4834C>T (p.Gln1612Ter)
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NM_025137.4(SPG11):c.4860dup (p.Lys1621fs)
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rs1418873962
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NM_025137.4(SPG11):c.4870C>T (p.Gln1624Ter)
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NM_025137.4(SPG11):c.4871del (p.Gln1624fs)
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NM_025137.4(SPG11):c.4874dup (p.Phe1626fs)
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NM_025137.4(SPG11):c.5014G>T (p.Glu1672Ter)
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NM_025137.4(SPG11):c.5058_5061del (p.Ala1687fs)
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NM_025137.4(SPG11):c.5093T>A (p.Leu1698Ter)
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rs1462607878
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NM_025137.4(SPG11):c.50G>A (p.Trp17Ter)
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rs1339135039
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NM_025137.4(SPG11):c.5109_5115dup (p.Lys1706delinsGlyTyrTer)
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NM_025137.4(SPG11):c.5117_5118del (p.Lys1706fs)
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NM_025137.4(SPG11):c.5148dup (p.His1717fs)
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rs1422477670
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NM_025137.4(SPG11):c.5161_5176del (p.Trp1721fs)
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NM_025137.4(SPG11):c.5175del (p.Ala1726fs)
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rs1060499768
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NM_025137.4(SPG11):c.5175dup (p.Ala1726fs)
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NM_025137.4(SPG11):c.5199del (p.Lys1733fs)
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rs779268551
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NM_025137.4(SPG11):c.5199dup (p.Cys1734fs)
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NM_025137.4(SPG11):c.5220_5224del (p.Lys1740fs)
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NM_025137.4(SPG11):c.5290dup (p.Thr1764fs)
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NM_025137.4(SPG11):c.529_533del (p.Ile177fs)
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rs312262716
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NM_025137.4(SPG11):c.5335del (p.Ala1779fs)
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NM_025137.4(SPG11):c.5398C>T (p.Gln1800Ter)
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rs1287370710
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NM_025137.4(SPG11):c.53dup (p.Thr19fs)
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NM_025137.4(SPG11):c.5422C>T (p.Gln1808Ter)
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NM_025137.4(SPG11):c.5443C>T (p.Gln1815Ter)
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NM_025137.4(SPG11):c.5465_5477del (p.Phe1822fs)
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rs1567138536
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NM_025137.4(SPG11):c.5592_5593del (p.Glu1864fs)
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NM_025137.4(SPG11):c.5598C>A (p.Cys1866Ter)
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NM_025137.4(SPG11):c.5607del (p.Arg1869fs)
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NM_025137.4(SPG11):c.5703del (p.His1902fs)
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rs312262769
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NM_025137.4(SPG11):c.5769del (p.Ser1923fs)
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rs312262770
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NM_025137.4(SPG11):c.5769dup (p.Met1924fs)
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rs1595842556
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NM_025137.4(SPG11):c.577del (p.Leu193fs)
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NM_025137.4(SPG11):c.5794del (p.His1932fs)
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NM_025137.4(SPG11):c.5806C>T (p.Gln1936Ter)
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NM_025137.4(SPG11):c.5815G>T (p.Glu1939Ter)
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rs2082702986
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NM_025137.4(SPG11):c.5842dup (p.Ile1948fs)
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rs1555448810
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NM_025137.4(SPG11):c.5844del (p.Pro1949_Leu1950insTer)
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rs1323156960
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NM_025137.4(SPG11):c.5854dup (p.Arg1952fs)
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NM_025137.4(SPG11):c.5864del (p.Ser1955fs)
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NM_025137.4(SPG11):c.5866_5866+4del
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rs771346977
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NM_025137.4(SPG11):c.5867-1G>A
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rs1060501168
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NM_025137.4(SPG11):c.5867-1G>T
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rs1060501168
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NM_025137.4(SPG11):c.5876dup (p.Asp1960fs)
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NM_025137.4(SPG11):c.5880_5881dup (p.Ser1961fs)
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NM_025137.4(SPG11):c.5900_5901dup (p.Pro1968fs)
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rs2140931516
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NM_025137.4(SPG11):c.5972del (p.Cys1991fs)
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rs2082503070
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NM_025137.4(SPG11):c.5985_5986del (p.Cys1996fs)
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rs1555447724
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NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs)
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rs312262776
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NM_025137.4(SPG11):c.5992_5995del (p.Tyr1998fs)
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NM_025137.4(SPG11):c.6021del (p.Tyr2008fs)
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rs886051179
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NM_025137.4(SPG11):c.6067dup (p.Ile2023fs)
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NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)
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rs147713329
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NM_025137.4(SPG11):c.6124_6125del (p.Gln2042fs)
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NM_025137.4(SPG11):c.6134_6135dup (p.Pro2046fs)
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rs2140928925
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NM_025137.4(SPG11):c.6158_6163del (p.Val2053_Ala2054del)
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NM_025137.4(SPG11):c.6200del (p.Gly2067fs)
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NM_025137.4(SPG11):c.6203dup (p.Gly2069fs)
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NM_025137.4(SPG11):c.6230_6231del (p.Thr2077fs)
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rs1555447459
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NM_025137.4(SPG11):c.6261del (p.Thr2088fs)
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rs2140927039
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NM_025137.4(SPG11):c.6266dup (p.Cys2090fs)
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NM_025137.4(SPG11):c.6269_6270del (p.Cys2090fs)
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rs749705821
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NM_025137.4(SPG11):c.6284T>A (p.Leu2095Ter)
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NM_025137.4(SPG11):c.6306_6307insC (p.Lys2103fs)
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NM_025137.4(SPG11):c.6317_6335del (p.Ser2106fs)
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rs1439018038
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NM_025137.4(SPG11):c.6326_6327insCTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATTTCCTCCGTTCCCCA (p.His2109_Gly2110insPheTyrThrValGlyGlyThrValAsnTer)
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NM_025137.4(SPG11):c.6331del (p.Glu2111fs)
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rs2140926873
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NM_025137.4(SPG11):c.6347_6348del (p.Thr2116fs)
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NM_025137.4(SPG11):c.6365_6387del (p.Ala2122fs)
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rs2140923165
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NM_025137.4(SPG11):c.6418C>T (p.Gln2140Ter)
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rs1567129475
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NM_025137.4(SPG11):c.6424dup (p.Ala2142fs)
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NM_025137.4(SPG11):c.6437_6438del (p.Thr2146fs)
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rs2082401685
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NM_025137.4(SPG11):c.6451del (p.Ala2151fs)
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rs312262779
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NM_025137.4(SPG11):c.6507C>A (p.Tyr2169Ter)
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NM_025137.4(SPG11):c.6523del (p.Ile2175fs)
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NM_025137.4(SPG11):c.6540del (p.His2180fs)
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rs2140920898
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NM_025137.4(SPG11):c.6658_6659del (p.Met2220fs)
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NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs)
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rs312262781
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NM_025137.4(SPG11):c.6738del (p.Ile2246fs)
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rs1555446712
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NM_025137.4(SPG11):c.6738dup (p.Glu2247Ter)
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NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs)
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rs312262782
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NM_025137.4(SPG11):c.6753G>A (p.Trp2251Ter)
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rs2082333064
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NM_025137.4(SPG11):c.6754+2_6754+3dup
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rs759090170
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NM_025137.4(SPG11):c.6787C>T (p.Gln2263Ter)
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NM_025137.4(SPG11):c.6811_6812del (p.Leu2271fs)
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rs1268815918
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NM_025137.4(SPG11):c.6831del (p.Ser2278fs)
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NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs)
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rs312262784
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NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs)
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rs312262786
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NM_025137.4(SPG11):c.6971_6972del (p.Cys2324fs)
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rs780301639
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NM_025137.4(SPG11):c.6971_6972dup (p.Ile2325fs)
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NM_025137.4(SPG11):c.69del (p.Arg24fs)
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NM_025137.4(SPG11):c.7000-3_7000-2insAGG
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rs312262787
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NM_025137.4(SPG11):c.7000G>C (p.Ala2334Pro)
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NM_025137.4(SPG11):c.7043del (p.Ala2348fs)
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NM_025137.4(SPG11):c.7055_7058dup (p.Gln2354fs)
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rs2140911440
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NM_025137.4(SPG11):c.7056C>A (p.Tyr2352Ter)
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rs746329317
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NM_025137.4(SPG11):c.7063_7073dup (p.Lys2358_Gly2359insTer)
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rs2082272406
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NM_025137.4(SPG11):c.7067_7071dup (p.Lys2358fs)
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NM_025137.4(SPG11):c.7083dup (p.Asn2362Ter)
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NM_025137.4(SPG11):c.7087_7115inv (p.Tyr2363_Leu2372delinsAsnLeuCysCysLeuAsnSerSerLysTer)
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NM_025137.4(SPG11):c.7093_7094insCTT (p.Glu2365delinsAlaTer)
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rs2140911376
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NM_025137.4(SPG11):c.7105C>T (p.Gln2369Ter)
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rs1397432412
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NM_025137.4(SPG11):c.7150A>T (p.Lys2384Ter)
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rs1555446078
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NM_025137.4(SPG11):c.7152-2A>G
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NM_025137.4(SPG11):c.7155T>A (p.Tyr2385Ter)
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rs778305085
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NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter)
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rs778305085
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NM_025137.4(SPG11):c.727del (p.Glu243fs)
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NM_025137.4(SPG11):c.749_750insCTG (p.Gln250delinsHisTer)
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NM_025137.4(SPG11):c.773dup (p.Phe259fs)
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rs2141121011
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NM_025137.4(SPG11):c.782C>A (p.Ser261Ter)
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rs765477482
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NM_025137.4(SPG11):c.819dup (p.Val274fs)
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NM_025137.4(SPG11):c.852_856del (p.Asn284fs)
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rs1595935001
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NM_025137.4(SPG11):c.869+1G>A
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rs312262721
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NM_025137.4(SPG11):c.925G>T (p.Gly309Ter)
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rs760659950
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NM_025137.4(SPG11):c.953del (p.Pro318fs)
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rs2141108180
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