NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile)
|
rs115970214
|
0.00892
|
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys)
|
rs374057859
|
0.00027
|
NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys)
|
rs199920965
|
0.00016
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00010
|
NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser)
|
rs201271196
|
0.00009
|
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu)
|
rs150571352
|
0.00009
|
NM_025137.4(SPG11):c.604A>G (p.Met202Val)
|
rs201875705
|
0.00006
|
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met)
|
rs149003934
|
0.00006
|
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.3425C>G (p.Ser1142Cys)
|
rs201082396
|
0.00005
|
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)
|
rs752401008
|
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.2003A>G (p.Tyr668Cys)
|
rs764762491
|
0.00004
|
NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn)
|
rs771242219
|
0.00004
|
NM_025137.4(SPG11):c.2377G>A (p.Val793Met)
|
rs546601155
|
0.00003
|
NM_025137.4(SPG11):c.2834+1G>T
|
rs312262749
|
0.00003
|
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.258-2A>C
|
rs781665076
|
0.00002
|
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)
|
rs141848292
|
0.00002
|
NM_025137.4(SPG11):c.1457-2A>G
|
rs312262726
|
0.00001
|
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter)
|
rs765061840
|
0.00001
|
NM_025137.4(SPG11):c.2317-13C>G
|
rs372670941
|
0.00001
|
NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter)
|
rs372906057
|
0.00001
|
NM_025137.4(SPG11):c.3663C>A (p.Ile1221=)
|
rs1388337783
|
0.00001
|
NM_025137.4(SPG11):c.4702G>A (p.Ala1568Thr)
|
rs767343843
|
0.00001
|
NM_025137.4(SPG11):c.5306T>C (p.Met1769Thr)
|
rs748258958
|
0.00001
|
NM_025137.4(SPG11):c.5866+1G>A
|
rs765725393
|
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.6458G>T (p.Ser2153Ile)
|
rs543344637
|
0.00001
|
NM_025137.4(SPG11):c.704_705del (p.His235fs)
|
rs312262719
|
0.00001
|
NM_025137.4(SPG11):c.7326del (p.Gly2443fs)
|
rs751228307
|
0.00001
|
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs)
|
rs312262764
|
|
NM_025137.4(SPG11):c.1203del (p.Asp402fs)
|
rs312262722
|
|
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)
|
rs312262723
|
|
NM_025137.4(SPG11):c.1275del (p.Ile425fs)
|
|
|
NM_025137.4(SPG11):c.1326dup (p.Val443fs)
|
rs2505725884
|
|
NM_025137.4(SPG11):c.1347_1348inv (p.Ile450Val)
|
|
|
NM_025137.4(SPG11):c.1471_1472del (p.Leu491fs)
|
rs312262727
|
|
NM_025137.4(SPG11):c.1602+1G>A
|
rs2505710044
|
|
NM_025137.4(SPG11):c.1819_1822delinsAT (p.Ser607fs)
|
rs2505601720
|
|
NM_025137.4(SPG11):c.1820C>G (p.Ser607Ter)
|
|
|
NM_025137.4(SPG11):c.1845_1848del (p.Phe617fs)
|
|
|
NM_025137.4(SPG11):c.1987_1988del (p.Asp663fs)
|
|
|
NM_025137.4(SPG11):c.202_203dup (p.Leu68fs)
|
rs773773579
|
|
NM_025137.4(SPG11):c.2445-32dup
|
rs374899647
|
|
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)
|
rs312262709
|
|
NM_025137.4(SPG11):c.2716del (p.Gln906fs)
|
rs312262747
|
|
NM_025137.4(SPG11):c.276_285del (p.Arg93fs)
|
rs747220413
|
|
NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly)
|
rs312262748
|
|
NM_025137.4(SPG11):c.2849del (p.Leu950fs)
|
rs1470463921
|
|
NM_025137.4(SPG11):c.2863G>T (p.Glu955Ter)
|
|
|
NM_025137.4(SPG11):c.2984_2985del (p.Tyr995fs)
|
|
|
NM_025137.4(SPG11):c.3016dup (p.Tyr1006fs)
|
|
|
NM_025137.4(SPG11):c.3039-1G>A
|
|
|
NM_025137.4(SPG11):c.3074_3077del (p.Lys1025fs)
|
rs746971952
|
|
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)
|
rs312262752
|
|
NM_025137.4(SPG11):c.3146-1G>C
|
|
|
NM_025137.4(SPG11):c.3175_3176delinsTG (p.Ala1059Ter)
|
rs2505482825
|
|
NM_025137.4(SPG11):c.3321_3324del (p.Asn1106_Cys1107insTer)
|
rs768131119
|
|
NM_025137.4(SPG11):c.3372del (p.Lys1125fs)
|
|
|
NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs)
|
rs1459810136
|
|
NM_025137.4(SPG11):c.3711dup (p.Tyr1238fs)
|
rs750663981
|
|
NM_025137.4(SPG11):c.3902dup (p.Ser1302fs)
|
|
|
NM_025137.4(SPG11):c.4000_4001del (p.Arg1334fs)
|
|
|
NM_025137.4(SPG11):c.4002-2A>C
|
|
|
NM_025137.4(SPG11):c.4162-10T>G
|
rs765557765
|
|
NM_025137.4(SPG11):c.4276_4277del (p.Lys1426fs)
|
|
|
NM_025137.4(SPG11):c.4339C>T (p.Gln1447Ter)
|
rs2505369754
|
|
NM_025137.4(SPG11):c.4404_4407del (p.Ile1469fs)
|
|
|
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs)
|
rs587777921
|
|
NM_025137.4(SPG11):c.4492_4493del (p.Val1498fs)
|
|
|
NM_025137.4(SPG11):c.4580del (p.Leu1527fs)
|
|
|
NM_025137.4(SPG11):c.4591C>T (p.Gln1531Ter)
|
rs1362530862
|
|
NM_025137.4(SPG11):c.4804G>A (p.Val1602Met)
|
rs754536969
|
|
NM_025137.4(SPG11):c.4868del (p.Leu1623fs)
|
|
|
NM_025137.4(SPG11):c.4868dup (p.Leu1623fs)
|
|
|
NM_025137.4(SPG11):c.5109_5115dup (p.Lys1706delinsGlyTyrTer)
|
rs2505300947
|
|
NM_025137.4(SPG11):c.5148dup (p.His1717fs)
|
rs1422477670
|
|
NM_025137.4(SPG11):c.5599del (p.Glu1867fs)
|
|
|
NM_025137.4(SPG11):c.5677G>T (p.Glu1893Ter)
|
|
|
NM_025137.4(SPG11):c.5697_5706del (p.Tyr1900fs)
|
|
|
NM_025137.4(SPG11):c.5794del (p.His1932fs)
|
rs2505289556
|
|
NM_025137.4(SPG11):c.5866_5866+4del
|
rs771346977
|
|
NM_025137.4(SPG11):c.5977C>T (p.Gln1993Ter)
|
rs312262774
|
|
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs)
|
rs312262776
|
|
NM_025137.4(SPG11):c.6006+1_6006+5del
|
|
|
NM_025137.4(SPG11):c.6194C>A (p.Ser2065Ter)
|
|
|
NM_025137.4(SPG11):c.6204A>G (p.Thr2068=)
|
rs2082470151
|
|
NM_025137.4(SPG11):c.6206-2A>G
|
|
|
NM_025137.4(SPG11):c.6230_6231del (p.Thr2077fs)
|
rs1555447459
|
|
NM_025137.4(SPG11):c.6253C>T (p.Gln2085Ter)
|
|
|
NM_025137.4(SPG11):c.6271C>T (p.Gln2091Ter)
|
|
|
NM_025137.4(SPG11):c.6343+2T>C
|
|
|
NM_025137.4(SPG11):c.6477+1G>C
|
|
|
NM_025137.4(SPG11):c.6493G>A (p.Gly2165Ser)
|
|
|
NM_025137.4(SPG11):c.6595del (p.Thr2198_Leu2199insTer)
|
|
|
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs)
|
rs312262781
|
|
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs)
|
rs312262782
|
|
NM_025137.4(SPG11):c.6754+2_6754+3dup
|
rs759090170
|
|
NM_025137.4(SPG11):c.6773_6783del (p.Gly2258fs)
|
|
|
NM_025137.4(SPG11):c.6859C>T (p.Gln2287Ter)
|
|
|
NM_025137.4(SPG11):c.6971_6972dup (p.Ile2325fs)
|
rs780301639
|
|
NM_025137.4(SPG11):c.7096G>T (p.Glu2366Ter)
|
|
|
NM_025137.4(SPG11):c.7159C>T (p.Gln2387Ter)
|
|
|
NM_025137.4(SPG11):c.793del (p.Ser265fs)
|
|
|
NM_025137.4(SPG11):c.856_857dup (p.Asn286fs)
|
|
|