NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_025137.4(SPG11):c.328A>G (p.Asn110Asp)
|
rs139498464
|
0.00011
|
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)
|
rs138103656
|
0.00011
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_025137.4(SPG11):c.5599G>A (p.Glu1867Lys)
|
rs372419484
|
0.00008
|
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met)
|
rs149003934
|
0.00006
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
NM_025137.4(SPG11):c.3664_3665insT (p.Lys1222fs)
|
rs312262755
|
0.00004
|
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.1951C>T (p.Arg651Ter)
|
rs199588440
|
0.00002
|
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)
|
rs141848292
|
0.00002
|
NM_025137.4(SPG11):c.5696G>A (p.Arg1899Gln)
|
rs768303307
|
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.2316+1G>A
|
rs312262740
|
0.00001
|
NM_025137.4(SPG11):c.2612dup (p.Ser871fs)
|
rs750101275
|
0.00001
|
NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter)
|
rs312262767
|
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.6856C>T (p.Arg2286Ter)
|
rs312262785
|
0.00001
|
NM_025137.4(SPG11):c.7152-1G>C
|
rs200079802
|
0.00001
|
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.1282A>T (p.Lys428Ter)
|
rs312262724
|
|
NM_025137.4(SPG11):c.1471_1472del (p.Leu491fs)
|
rs312262727
|
|
NM_025137.4(SPG11):c.1549_1550del (p.Cys518fs)
|
rs312262729
|
|
NM_025137.4(SPG11):c.1551_1552del (p.Cys518fs)
|
rs312262730
|
|
NM_025137.4(SPG11):c.1668del (p.Phe556fs)
|
rs312262731
|
|
NM_025137.4(SPG11):c.1679C>G (p.Ser560Ter)
|
rs312262732
|
|
NM_025137.4(SPG11):c.1697_1711delinsTACTCCCA (p.Asp566fs)
|
rs312262733
|
|
NM_025137.4(SPG11):c.1845_1846del (p.Ser616fs)
|
rs312262736
|
|
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)
|
rs312262737
|
|
NM_025137.4(SPG11):c.2163dup (p.Ile722fs)
|
rs312262738
|
|
NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter)
|
rs312262739
|
|
NM_025137.4(SPG11):c.2358_2359del (p.Arg788fs)
|
rs312262741
|
|
NM_025137.4(SPG11):c.2444+1G>C
|
rs312262743
|
|
NM_025137.4(SPG11):c.2444G>T (p.Arg815Met)
|
rs312262742
|
|
NM_025137.4(SPG11):c.2608A>G (p.Ile870Val)
|
rs312262745
|
|
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)
|
rs312262709
|
|
NM_025137.4(SPG11):c.268G>T (p.Glu90Ter)
|
rs312262710
|
|
NM_025137.4(SPG11):c.2697G>A (p.Trp899Ter)
|
rs312262746
|
|
NM_025137.4(SPG11):c.2716del (p.Gln906fs)
|
rs312262747
|
|
NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly)
|
rs312262748
|
|
NM_025137.4(SPG11):c.2842dup (p.Val948fs)
|
rs312262750
|
|
NM_025137.4(SPG11):c.2849dup (p.Leu950fs)
|
rs1470463921
|
|
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)
|
rs312262752
|
|
NM_025137.4(SPG11):c.3291+1G>T
|
rs312262753
|
|
NM_025137.4(SPG11):c.349G>T (p.Glu117Ter)
|
rs312262711
|
|
NM_025137.4(SPG11):c.359del (p.Asn119_Leu120insTer)
|
rs312262712
|
|
NM_025137.4(SPG11):c.3602_3603del (p.Tyr1201fs)
|
rs312262754
|
|
NM_025137.4(SPG11):c.3719_3720del (p.Ile1240fs)
|
rs312262756
|
|
NM_025137.4(SPG11):c.3741dup (p.Pro1248fs)
|
rs312262757
|
|
NM_025137.4(SPG11):c.398del (p.Cys133fs)
|
rs312262713
|
|
NM_025137.4(SPG11):c.4046T>A (p.Phe1349Tyr)
|
rs312262758
|
|
NM_025137.4(SPG11):c.408_428del (p.Glu136_Ile142del)
|
rs312262714
|
|
NM_025137.4(SPG11):c.4402C>G (p.Pro1468Ala)
|
rs2083030697
|
|
NM_025137.4(SPG11):c.442+1G>C
|
rs312262715
|
|
NM_025137.4(SPG11):c.4432C>T (p.Gln1478Ter)
|
rs2140971559
|
|
NM_025137.4(SPG11):c.4668T>A (p.Tyr1556Ter)
|
rs312262761
|
|
NM_025137.4(SPG11):c.4846C>T (p.Gln1616Ter)
|
rs312262762
|
|
NM_025137.4(SPG11):c.529_533del (p.Ile177fs)
|
rs312262716
|
|
NM_025137.4(SPG11):c.5410_5411del (p.Cys1804fs)
|
rs312262766
|
|
NM_025137.4(SPG11):c.5532_5533del (p.Lys1845fs)
|
rs312262768
|
|
NM_025137.4(SPG11):c.5703del (p.His1902fs)
|
rs312262769
|
|
NM_025137.4(SPG11):c.5769del (p.Ser1923fs)
|
rs312262770
|
|
NM_025137.4(SPG11):c.5798del (p.Ala1933fs)
|
rs312262771
|
|
NM_025137.4(SPG11):c.5870C>G (p.Ser1957Ter)
|
rs312262772
|
|
NM_025137.4(SPG11):c.5970C>G (p.Tyr1990Ter)
|
rs312262773
|
|
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.5990T>A (p.Leu1997Gln)
|
rs879367729
|
|
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)
|
rs147713329
|
|
NM_025137.4(SPG11):c.6206-1G>C
|
rs312262778
|
|
NM_025137.4(SPG11):c.642del (p.Phe214fs)
|
rs312262717
|
|
NM_025137.4(SPG11):c.6451del (p.Ala2151fs)
|
rs312262779
|
|
NM_025137.4(SPG11):c.6477+4A>G
|
rs312262780
|
|
NM_025137.4(SPG11):c.654_655delinsG (p.Ser218fs)
|
rs312262718
|
|
NM_025137.4(SPG11):c.6586-7T>C
|
rs1057524222
|
|
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.6790dup (p.Leu2264fs)
|
rs312262783
|
|
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs)
|
rs312262784
|
|
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs)
|
rs312262786
|
|
NM_025137.4(SPG11):c.7023C>A (p.Tyr2341Ter)
|
rs80338869
|
|
NM_025137.4(SPG11):c.7029dup (p.Val2344fs)
|
rs312262788
|
|
NM_025137.4(SPG11):c.7085_7088dup (p.Tyr2363Ter)
|
rs312262789
|
|
NM_025137.4(SPG11):c.7101dup (p.Lys2368Ter)
|
rs312262790
|
|
NM_025137.4(SPG11):c.7151+4_7151+7del
|
rs312262791
|
|
NM_025137.4(SPG11):c.7158_7159insACAA (p.Gln2387fs)
|
rs312262792
|
|
NM_025137.4(SPG11):c.7324G>C (p.Ala2442Pro)
|
rs765644977
|
|
NM_025137.4(SPG11):c.869+1G>A
|
rs312262721
|
|