NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val)
|
rs72547551
|
0.00015
|
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)
|
rs121918358
|
0.00014
|
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)
|
rs369227537
|
0.00010
|
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)
|
rs752623413
|
0.00006
|
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter)
|
rs562890289
|
0.00004
|
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)
|
rs769602042
|
0.00004
|
NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg)
|
rs369503365
|
0.00004
|
NM_003119.4(SPG7):c.2096dup (p.Met699fs)
|
rs747503698
|
0.00004
|
NM_003119.4(SPG7):c.861+2dup
|
rs771256761
|
0.00004
|
NM_003119.4(SPG7):c.1552+1G>T
|
rs141644720
|
0.00003
|
NM_003119.4(SPG7):c.1553-2A>G
|
rs1229749476
|
0.00003
|
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter)
|
rs774774648
|
0.00003
|
NM_003119.4(SPG7):c.1192C>T (p.Arg398Ter)
|
rs1373388852
|
0.00002
|
NM_003119.4(SPG7):c.1937-2A>G
|
rs568556987
|
0.00002
|
NM_003119.4(SPG7):c.201del (p.Leu67_Leu68insTer)
|
rs763413730
|
0.00002
|
NM_003119.4(SPG7):c.1369C>T (p.Arg457Ter)
|
rs138671904
|
0.00001
|
NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter)
|
rs748555510
|
0.00001
|
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter)
|
rs372981030
|
0.00001
|
NM_003119.4(SPG7):c.1702C>T (p.Gln568Ter)
|
rs946925151
|
0.00001
|
NM_003119.4(SPG7):c.1996G>C (p.Gly666Arg)
|
rs752989523
|
0.00001
|
NM_003119.4(SPG7):c.2062C>T (p.Arg688Trp)
|
rs1249957920
|
0.00001
|
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro)
|
rs864622094
|
0.00001
|
NM_003119.4(SPG7):c.376G>C (p.Glu126Gln)
|
rs912983346
|
0.00001
|
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter)
|
rs764791523
|
0.00001
|
NM_003119.4(SPG7):c.739C>T (p.Arg247Ter)
|
rs779055639
|
0.00001
|
NM_003119.4(SPG7):c.759-2A>G
|
rs770299071
|
0.00001
|
NM_003119.4(SPG7):c.861+1G>C
|
rs1412575396
|
0.00001
|
NM_003119.4(SPG7):c.988-1G>A
|
rs748309520
|
0.00001
|
NC_000016.10:g.(?_89510480)_(89513047_?)del
|
|
|
NC_000016.10:g.(?_89529457)_(89529599_?)del
|
|
|
NC_000016.9:g.(?_89574826)_(89579465_?)del
|
|
|
NC_000016.9:g.(?_89574826)_(89597236_?)del
|
|
|
NC_000016.9:g.(?_89576878)_(89579465_?)del
|
|
|
NC_000016.9:g.(?_89576878)_(89579465_?)dup
|
|
|
NC_000016.9:g.(?_89595875)_(89595997_?)del
|
|
|
NC_000016.9:g.(?_89613046)_(89617037_?)del
|
|
|
NC_000016.9:g.(?_89614405)_(89617023_?)del
|
|
|
NC_000016.9:g.(?_89619467)_(89620817_?)del
|
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
NM_003119.3(SPG7):c.1553-?_1779+?del
|
|
|
NM_003119.4(SPG7):c.1045_1046delinsAGC (p.Gly349fs)
|
rs1060503425
|
|
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs)
|
rs775364547
|
|
NM_003119.4(SPG7):c.1053del (p.Gly352fs)
|
rs760818649
|
|
NM_003119.4(SPG7):c.1053dup (p.Gly352fs)
|
rs760818649
|
|
NM_003119.4(SPG7):c.1124del (p.Gly375fs)
|
rs2152403519
|
|
NM_003119.4(SPG7):c.1170del (p.Arg391fs)
|
|
|
NM_003119.4(SPG7):c.1171_1172dup (p.Ser392fs)
|
rs2058358025
|
|
NM_003119.4(SPG7):c.1477dup (p.Leu493fs)
|
|
|
NM_003119.4(SPG7):c.1617del (p.Val540fs)
|
rs762795756
|
|
NM_003119.4(SPG7):c.1628_1629del (p.Leu543fs)
|
rs766155407
|
|
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)
|
rs864622507
|
|
NM_003119.4(SPG7):c.1939del
|
rs1567934181
|
|
NM_003119.4(SPG7):c.1967G>C (p.Arg656Pro)
|
rs373143136
|
|
NM_003119.4(SPG7):c.2070del (p.Phe691fs)
|
rs1555617559
|
|
NM_003119.4(SPG7):c.2102A>C (p.His701Pro)
|
|
|
NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs)
|
rs748255454
|
|
NM_003119.4(SPG7):c.2140_2141del (p.Thr714fs)
|
|
|
NM_003119.4(SPG7):c.2216dup (p.Asn739fs)
|
rs763126378
|
|
NM_003119.4(SPG7):c.244C>T (p.Gln82Ter)
|
rs146115797
|
|
NM_003119.4(SPG7):c.273_274del (p.Trp92fs)
|
|
|
NM_003119.4(SPG7):c.596del (p.Gly199fs)
|
rs752843742
|
|
NM_003119.4(SPG7):c.711del (p.Lys238fs)
|
rs2152400490
|
|
NM_003119.4(SPG7):c.749del (p.Phe250fs)
|
rs1355240257
|
|
NM_003119.4(SPG7):c.773_774del (p.Val258fs)
|
rs768136171
|
|
NM_003119.4(SPG7):c.850_851delinsC (p.Phe284fs)
|
rs768595656
|
|
NM_003119.4(SPG7):c.861+1G>T
|
rs1412575396
|
|
NM_003119.4(SPG7):c.861del (p.Phe287fs)
|
rs797046003
|
|
NM_003119.4(SPG7):c.861dup (p.Asn288Ter)
|
rs797046003
|
|
NM_003119.4(SPG7):c.934dup (p.Ala312fs)
|
rs2058330715
|
|
NM_003119.4(SPG7):c.960del (p.Val321fs)
|
|
|