| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32122577_32129489del | CA2573051932 | SPAST | c.*759-4371_*905+1010del c.1099-4371_1245+1010del c.1096-4371_1242+1010del c.982+6365_983-7074del c.1000-4371_1146+1010del c.873-4371_1019+1010del c.841-4371_987+1010del c.258-4371_404+1010del c.679-4371_825+1010del c.975-4371_1121+1010del c.745-4371_891+1010del c.549-4371_695+1010del c.446-4371_592+1010del c.1003-4371_1149+1010del n.791-4371_937+1010del c.674-5831_745+1010del | ClinVar |
| 2 | g.32125886_32135221del | CA339674 | SPAST | c.*759-1062_*906-1342del c.1099-1062_1246-1342del c.1096-1062_1243-1342del c.982+9674_983-1342del c.1000-1062_1147-1342del c.873-1062_1020-1342del c.841-1062_988-1342del c.258-1062_405-1342del c.679-1062_826-1342del c.975-1062_1122-1342del c.745-1062_892-1342del c.549-1062_696-1342del c.446-1062_593-1888del c.1003-1062_1150-1342del n.791-1062_938-1342del c.674-2522_746-1342del | ClinVar |
| 2 | g.32125992_32134891del | CA339692 | SPAST | c.*759-956_*906-1672del c.1099-956_1246-1672del c.1096-956_1243-1672del c.982+9780_983-1672del c.1000-956_1147-1672del c.873-956_1020-1672del c.841-956_988-1672del c.258-956_405-1672del c.679-956_826-1672del c.975-956_1122-1672del c.745-956_892-1672del c.549-956_696-1672del c.446-956_593-2218del c.1003-956_1150-1672del n.791-956_938-1672del c.674-2416_746-1672del | ClinVar |
| 2 | g.32127207_32128479del | CA1139656869 | SPAST | c.*833+185_*905del c.1173+185_1245del c.1170+185_1242del c.983-9356_983-8084del c.1074+185_1146del c.947+185_1019del c.915+185_987del c.332+185_404del c.753+185_825del c.1049+185_1121del c.819+185_891del n.710_1982del n.386+185_458del c.623+185_695del c.520+185_592del c.1077+185_1149del n.865+185_937del c.674-1201_745del | ClinVar |
| 2 | g.32128138_32134839dup | CA10575836 | SPAST | c.*834-270_*906-1724dup c.1174-270_1246-1724dup c.1171-270_1243-1724dup c.983-8425_983-1724dup c.1075-270_1147-1724dup c.948-270_1020-1724dup c.916-270_988-1724dup c.333-270_405-1724dup c.754-270_826-1724dup c.1050-270_1122-1724dup c.820-270_892-1724dup n.1641_1983-1724dup c.624-270_696-1724dup c.521-270_593-2270dup c.1078-270_1150-1724dup n.866-270_938-1724dup c.674-270_746-1724dup | |
| 2 | g.32128440_32128444delinsCTTCT | CA1242498127 | SPAST | c.*866_*870delinsCTTCT (n.*866_*870delinsCTTCT) c.1206_1210delinsCTTCT (p.Thr402=) c.1203_1207delinsCTTCT (p.Thr401=) c.983-8123_983-8119delinsCTTCT c.1107_1111delinsCTTCT (p.Thr369=) c.980_984delinsCTTCT c.948_952delinsCTTCT (p.Thr316=) c.365_369delinsCTTCT c.786_790delinsCTTCT c.1082_1086delinsCTTCT c.852_856delinsCTTCT (p.Thr284=) n.1943_1947delinsCTTCT n.419_423delinsCTTCT c.656_660delinsCTTCT c.553_557delinsCTTCT c.852_856delinsCTTCT c.1110_1114delinsCTTCT (p.Thr370=) n.898_902delinsCTTCT c.706_710delinsCTTCT | |
| 2 | g.32128443_32128445del | CA658795707 | SPAST | c.*869_*871del (n.*869_*871del) c.1209_1211del (p.Phe404del) c.1206_1208del (p.Phe403del) c.983-8120_983-8118del c.1110_1112del (p.Phe371del) c.983_985del c.951_953del (p.Phe318del) c.368_370del c.789_791del c.1085_1087del c.855_857del (p.Phe286del) n.1946_1948del n.422_424del c.659_661del c.556_558del c.855_857del c.1113_1115del (p.Phe372del) n.901_903del c.709_711del | ClinVar dbSNP |
| 2 | g.32128443_32128446del | CA658653746 | SPAST | c.*869_*872del (n.*869_*872del) c.1209_1212del (p.Phe403LeufsTer3) c.1206_1209del (p.Phe402LeufsTer3) c.983-8120_983-8117del c.1110_1113del (p.Phe370LeufsTer3) c.983_986del c.951_954del (p.Phe317LeufsTer3) c.368_371del c.789_792del c.1085_1088del c.855_858del (p.Phe285LeufsTer3) n.1946_1949del n.422_425del c.659_662del c.556_559del c.855_858del c.1113_1116del (p.Phe371LeufsTer3) n.901_904del c.709_712del | ClinVar dbSNP |
| 2 | g.32128442_32128446del | CA2573051933 | SPAST | c.*868_*872del (n.*868_*872del) c.1208_1212del (p.Phe403Ter) c.1205_1209del (p.Phe402Ter) c.983-8121_983-8117del c.1109_1113del (p.Phe370Ter) c.982_986del c.950_954del (p.Phe317Ter) c.367_371del c.788_792del c.1084_1088del c.854_858del (p.Phe285Ter) n.1945_1949del n.421_425del c.658_662del c.555_559del c.854_858del c.1112_1116del (p.Phe371Ter) n.900_904del c.708_712del | ClinVar dbSNP |
| 2 | g.32128442_32128443delinsTC | CA1242498129 | SPAST | c.*868_*869delinsTC (n.*868_*869delinsTC) c.1208_1209delinsTC (p.Phe403=) c.1205_1206delinsTC (p.Phe402=) c.983-8121_983-8120delinsTC c.1109_1110delinsTC (p.Phe370=) c.982_983delinsTC c.950_951delinsTC (p.Phe317=) c.367_368delinsTC c.788_789delinsTC c.1084_1085delinsTC c.854_855delinsTC (p.Phe285=) n.1945_1946delinsTC n.421_422delinsTC c.658_659delinsTC c.555_556delinsTC c.854_855delinsTC c.1112_1113delinsTC (p.Phe371=) n.900_901delinsTC c.708_709delinsTC | |
| 2 | g.32128443del | CA16603261 | SPAST | c.*869del (n.*869del) c.1209del (p.Phe404LeufsTer3) c.1206del (p.Phe403LeufsTer3) c.983-8120del c.1110del (p.Phe371LeufsTer3) c.983del c.951del (p.Phe318LeufsTer3) c.368del c.789del c.1085del c.855del (p.Phe286LeufsTer3) n.1946del n.422del c.659del c.556del c.855del c.1113del (p.Phe372LeufsTer3) n.901del c.709del | ClinVar dbSNP |
| 2 | g.32128443C>A | CA346501436 | SPAST | c.*869C>A (n.*869C>A) c.1209C>A (p.Phe403Leu) c.1206C>A (p.Phe402Leu) c.983-8120C>A c.1110C>A (p.Phe370Leu) c.983C>A c.951C>A (p.Phe317Leu) c.368C>A c.789C>A c.1085C>A c.855C>A (p.Phe285Leu) n.1946C>A n.422C>A c.659C>A c.556C>A c.855C>A c.1113C>A (p.Phe371Leu) n.901C>A c.709C>A | ClinVar dbSNP |
| 2 | g.32128443C= | CA1242498130 | SPAST | c.*869C= (n.*869C=) c.1209C= (p.Phe403=) c.1206C= (p.Phe402=) c.983-8120C= c.1110C= (p.Phe370=) c.983C= c.951C= (p.Phe317=) c.368C= c.789C= c.1085C= c.855C= (p.Phe285=) n.1946C= n.422C= c.659C= c.556C= c.855C= c.1113C= (p.Phe371=) n.901C= c.709C= | |
| 2 | g.32128443C>G | CA346501437 | SPAST | c.*869C>G (n.*869C>G) c.1209C>G (p.Phe403Leu) c.1206C>G (p.Phe402Leu) c.983-8120C>G c.1110C>G (p.Phe370Leu) c.983C>G c.951C>G (p.Phe317Leu) c.368C>G c.789C>G c.1085C>G c.855C>G (p.Phe285Leu) n.1946C>G n.422C>G c.659C>G c.556C>G c.855C>G c.1113C>G (p.Phe371Leu) n.901C>G c.709C>G | dbSNP |
| 2 | g.32128443C>T | CA425446901 | SPAST | c.*869C>T (n.*869C>T) c.1209C>T (p.Phe403=) c.1206C>T (p.Phe402=) c.983-8120C>T c.1110C>T (p.Phe370=) c.983C>T c.951C>T (p.Phe317=) c.368C>T c.789C>T c.1085C>T c.855C>T (p.Phe285=) n.1946C>T n.422C>T c.659C>T c.556C>T c.855C>T c.1113C>T (p.Phe371=) n.901C>T c.709C>T | dbSNP |
| 2 | g.32128443_32128446delinsCTTT | CA1242498131 | SPAST | c.*869_*872delinsCTTT (n.*869_*872delinsCTTT) c.1209_1212delinsCTTT (p.Phe403=) c.1206_1209delinsCTTT (p.Phe402=) c.983-8120_983-8117delinsCTTT c.1110_1113delinsCTTT (p.Phe370=) c.983_986delinsCTTT c.951_954delinsCTTT (p.Phe317=) c.368_371delinsCTTT c.789_792delinsCTTT c.1085_1088delinsCTTT c.855_858delinsCTTT (p.Phe285=) n.1946_1949delinsCTTT n.422_425delinsCTTT c.659_662delinsCTTT c.556_559delinsCTTT c.855_858delinsCTTT c.1113_1116delinsCTTT (p.Phe371=) n.901_904delinsCTTT c.709_712delinsCTTT | |
| 2 | g.32128444T>A | CA346501438 | SPAST | c.*870T>A (n.*870T>A) c.1210T>A (p.Phe404Ile) c.1207T>A (p.Phe403Ile) c.983-8119T>A c.1111T>A (p.Phe371Ile) c.984T>A c.952T>A (p.Phe318Ile) c.369T>A c.790T>A c.1086T>A c.856T>A (p.Phe286Ile) n.1947T>A n.423T>A c.660T>A c.557T>A c.856T>A c.1114T>A (p.Phe372Ile) n.902T>A c.710T>A | |
| 2 | g.32128444T>C | CA346501439 | SPAST | c.*870T>C (n.*870T>C) c.1210T>C (p.Phe404Leu) c.1207T>C (p.Phe403Leu) c.983-8119T>C c.1111T>C (p.Phe371Leu) c.984T>C c.952T>C (p.Phe318Leu) c.369T>C c.790T>C c.1086T>C c.856T>C (p.Phe286Leu) n.1947T>C n.423T>C c.660T>C c.557T>C c.856T>C c.1114T>C (p.Phe372Leu) n.902T>C c.710T>C | |
| 2 | g.32128444T>G | CA346501440 | SPAST | c.*870T>G (n.*870T>G) c.1210T>G (p.Phe404Val) c.1207T>G (p.Phe403Val) c.983-8119T>G c.1111T>G (p.Phe371Val) c.984T>G c.952T>G (p.Phe318Val) c.369T>G c.790T>G c.1086T>G c.856T>G (p.Phe286Val) n.1947T>G n.423T>G c.660T>G c.557T>G c.856T>G c.1114T>G (p.Phe372Val) n.902T>G c.710T>G | |
| 2 | g.32128444_32128446del | CA915940736 | SPAST | c.*870_*872del (n.*870_*872del) c.1210_1212del (p.Phe404del) c.1207_1209del (p.Phe403del) c.983-8119_983-8117del c.1111_1113del (p.Phe371del) c.984_986del c.952_954del (p.Phe318del) c.369_371del c.790_792del c.1086_1088del c.856_858del (p.Phe286del) n.1947_1949del n.423_425del c.660_662del c.557_559del c.856_858del c.1114_1116del (p.Phe372del) n.902_904del c.710_712del | ClinVar dbSNP |
| 2 | g.32128445T>A | CA346501441 | SPAST | c.*871T>A (n.*871T>A) c.1211T>A (p.Phe404Tyr) c.1208T>A (p.Phe403Tyr) c.983-8118T>A c.1112T>A (p.Phe371Tyr) c.985T>A c.953T>A (p.Phe318Tyr) c.370T>A c.791T>A c.1087T>A c.857T>A (p.Phe286Tyr) n.1948T>A n.424T>A c.661T>A c.558T>A c.857T>A c.1115T>A (p.Phe372Tyr) n.903T>A c.711T>A | |
| 2 | g.32128445T>C | CA346501442 | SPAST | c.*871T>C (n.*871T>C) c.1211T>C (p.Phe404Ser) c.1208T>C (p.Phe403Ser) c.983-8118T>C c.1112T>C (p.Phe371Ser) c.985T>C c.953T>C (p.Phe318Ser) c.370T>C c.791T>C c.1087T>C c.857T>C (p.Phe286Ser) n.1948T>C n.424T>C c.661T>C c.558T>C c.857T>C c.1115T>C (p.Phe372Ser) n.903T>C c.711T>C | ClinVar dbSNP |
| 2 | g.32128445T>G | CA346501443 | SPAST | c.*871T>G (n.*871T>G) c.1211T>G (p.Phe404Cys) c.1208T>G (p.Phe403Cys) c.983-8118T>G c.1112T>G (p.Phe371Cys) c.985T>G c.953T>G (p.Phe318Cys) c.370T>G c.791T>G c.1087T>G c.857T>G (p.Phe286Cys) n.1948T>G n.424T>G c.661T>G c.558T>G c.857T>G c.1115T>G (p.Phe372Cys) n.903T>G c.711T>G | |
| 2 | g.32128445T= | CA1242498133 | SPAST | c.*871T= (n.*871T=) c.1211T= (p.Phe404=) c.1208T= (p.Phe403=) c.983-8118T= c.1112T= (p.Phe371=) c.985T= c.953T= (p.Phe318=) c.370T= c.791T= c.1087T= c.857T= (p.Phe286=) n.1948T= n.424T= c.661T= c.558T= c.857T= c.1115T= (p.Phe372=) n.903T= c.711T= | |
| 2 | g.32128445_32128450delinsTTAATA | CA1242498132 | SPAST | c.*871_*876delinsTTAATA (n.*871_*876delinsTTAATA) c.1211_1216delinsTTAATA (p.Phe404=) c.1208_1213delinsTTAATA (p.Phe403=) c.983-8118_983-8113delinsTTAATA c.1112_1117delinsTTAATA (p.Phe371=) c.985_990delinsTTAATA c.953_958delinsTTAATA (p.Phe318=) c.370_375delinsTTAATA c.791_796delinsTTAATA c.1087_1092delinsTTAATA c.857_862delinsTTAATA (p.Phe286=) n.1948_1953delinsTTAATA n.424_429delinsTTAATA c.661_666delinsTTAATA c.558_563delinsTTAATA c.857_862delinsTTAATA c.1115_1120delinsTTAATA (p.Phe372=) n.903_908delinsTTAATA c.711_716delinsTTAATA | |
| 2 | g.32128446T>A | CA346501444 | SPAST | c.*872T>A (n.*872T>A) c.1212T>A (p.Phe404Leu) c.1209T>A (p.Phe403Leu) c.983-8117T>A c.1113T>A (p.Phe371Leu) c.986T>A c.954T>A (p.Phe318Leu) c.371T>A c.792T>A c.1088T>A c.858T>A (p.Phe286Leu) n.1949T>A n.425T>A c.662T>A c.559T>A c.858T>A c.1116T>A (p.Phe372Leu) n.904T>A c.712T>A | |
| 2 | g.32128446T>C | CA425446902 | SPAST | c.*872T>C (n.*872T>C) c.1212T>C (p.Phe404=) c.1209T>C (p.Phe403=) c.983-8117T>C c.1113T>C (p.Phe371=) c.986T>C c.954T>C (p.Phe318=) c.371T>C c.792T>C c.1088T>C c.858T>C (p.Phe286=) n.1949T>C n.425T>C c.662T>C c.559T>C c.858T>C c.1116T>C (p.Phe372=) n.904T>C c.712T>C | |
| 2 | g.32128446T>G | CA346501445 | SPAST | c.*872T>G (n.*872T>G) c.1212T>G (p.Phe404Leu) c.1209T>G (p.Phe403Leu) c.983-8117T>G c.1113T>G (p.Phe371Leu) c.986T>G c.954T>G (p.Phe318Leu) c.371T>G c.792T>G c.1088T>G c.858T>G (p.Phe286Leu) n.1949T>G n.425T>G c.662T>G c.559T>G c.858T>G c.1116T>G (p.Phe372Leu) n.904T>G c.712T>G | |
| 2 | g.32128446_32128447del | CA2586964719 | SPAST | c.*872_*873del (n.*872_*873del) c.1212_1213del (p.Phe404LeufsTer?) c.1209_1210del (p.Phe403LeufsTer?) c.983-8117_983-8116del c.1113_1114del (p.Phe371LeufsTer?) c.986_987del c.954_955del (p.Phe318LeufsTer?) c.371_372del c.792_793del c.1088_1089del c.858_859del (p.Phe286LeufsTer?) n.1949_1950del n.425_426del c.662_663del c.559_560del c.858_859del c.1116_1117del (p.Phe372LeufsTer?) n.904_905del c.712_713del | |
| 2 | g.32128446_32128449delinsAAAA | CA2580066403 | SPAST | c.*872_*875delinsAAAA (n.*872_*875delinsAAAA) c.1212_1215delinsAAAA (p.Phe404_Asn405delinsLeuLys) c.1209_1212delinsAAAA (p.Phe403_Asn404delinsLeuLys) c.983-8117_983-8114delinsAAAA c.1113_1116delinsAAAA (p.Phe371_Asn372delinsLeuLys) c.986_989delinsAAAA c.954_957delinsAAAA (p.Phe318_Asn319delinsLeuLys) c.371_374delinsAAAA c.792_795delinsAAAA c.1088_1091delinsAAAA c.858_861delinsAAAA (p.Phe286_Asn287delinsLeuLys) n.1949_1952delinsAAAA n.425_428delinsAAAA c.662_665delinsAAAA c.559_562delinsAAAA c.858_861delinsAAAA c.1116_1119delinsAAAA (p.Phe372_Asn373delinsLeuLys) n.904_907delinsAAAA c.712_715delinsAAAA | ClinVar |
| 2 | g.32128449_32128453del | CA658657023 | SPAST | c.*875_*879del (n.*875_*879del) c.1215_1219del (p.Asn405LysfsTer?) c.1212_1216del (p.Asn404LysfsTer?) c.983-8114_983-8110del c.1116_1120del (p.Asn372LysfsTer?) c.989_993del c.957_961del (p.Asn319LysfsTer?) c.374_378del c.795_799del c.1091_1095del c.861_865del (p.Asn287LysfsTer?) n.1952_1956del n.428_432del c.665_669del c.562_566del c.861_865del c.1119_1123del (p.Asn373LysfsTer?) n.907_911del c.715_719del | ClinVar dbSNP gnomAD v4 |
| 2 | g.32128447A>C | CA346501446 | SPAST | c.*873A>C (n.*873A>C) c.1213A>C (p.Asn405His) c.1210A>C (p.Asn404His) c.983-8116A>C c.1114A>C (p.Asn372His) c.987A>C c.955A>C (p.Asn319His) c.372A>C c.793A>C c.1089A>C c.859A>C (p.Asn287His) n.1950A>C n.426A>C c.663A>C c.560A>C c.859A>C c.1117A>C (p.Asn373His) n.905A>C c.713A>C | |
| 2 | g.32128447A>G | CA346501447 | SPAST | c.*873A>G (n.*873A>G) c.1213A>G (p.Asn405Asp) c.1210A>G (p.Asn404Asp) c.983-8116A>G c.1114A>G (p.Asn372Asp) c.987A>G c.955A>G (p.Asn319Asp) c.372A>G c.793A>G c.1089A>G c.859A>G (p.Asn287Asp) n.1950A>G n.426A>G c.663A>G c.560A>G c.859A>G c.1117A>G (p.Asn373Asp) n.905A>G c.713A>G | |
| 2 | g.32128447A>T | CA346501448 | SPAST | c.*873A>T (n.*873A>T) c.1213A>T (p.Asn405Tyr) c.1210A>T (p.Asn404Tyr) c.983-8116A>T c.1114A>T (p.Asn372Tyr) c.987A>T c.955A>T (p.Asn319Tyr) c.372A>T c.793A>T c.1089A>T c.859A>T (p.Asn287Tyr) n.1950A>T n.426A>T c.663A>T c.560A>T c.859A>T c.1117A>T (p.Asn373Tyr) n.905A>T c.713A>T | |
| 2 | g.32128448del | CA2695195470 | SPAST | c.*874del (n.*874del) c.1214del (p.Asn405IlefsTer2) c.1211del (p.Asn404IlefsTer2) c.983-8115del c.1115del (p.Asn372IlefsTer2) c.988del c.956del (p.Asn319IlefsTer2) c.373del c.794del c.1090del c.860del (p.Asn287IlefsTer2) n.1951del n.427del c.664del c.561del c.860del c.1118del (p.Asn373IlefsTer2) n.906del c.714del | |
| 2 | g.32128448A= | CA1242498134 | SPAST | c.*874A= (n.*874A=) c.1214A= (p.Asn405=) c.1211A= (p.Asn404=) c.983-8115A= c.1115A= (p.Asn372=) c.988A= c.956A= (p.Asn319=) c.373A= c.794A= c.1090A= c.860A= (p.Asn287=) n.1951A= n.427A= c.664A= c.561A= c.860A= c.1118A= (p.Asn373=) n.906A= c.714A= | |
| 2 | g.32128448A>C | CA346501450 | SPAST | c.*874A>C (n.*874A>C) c.1214A>C (p.Asn405Thr) c.1211A>C (p.Asn404Thr) c.983-8115A>C c.1115A>C (p.Asn372Thr) c.988A>C c.956A>C (p.Asn319Thr) c.373A>C c.794A>C c.1090A>C c.860A>C (p.Asn287Thr) n.1951A>C n.427A>C c.664A>C c.561A>C c.860A>C c.1118A>C (p.Asn373Thr) n.906A>C c.714A>C | |
| 2 | g.32128448A>G | CA1600836 | SPAST | c.*874A>G (n.*874A>G) c.1214A>G (p.Asn405Ser) c.1211A>G (p.Asn404Ser) c.983-8115A>G c.1115A>G (p.Asn372Ser) c.988A>G c.956A>G (p.Asn319Ser) c.373A>G c.794A>G c.1090A>G c.860A>G (p.Asn287Ser) n.1951A>G n.427A>G c.664A>G c.561A>G c.860A>G c.1118A>G (p.Asn373Ser) n.906A>G c.714A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.32128448A>T | CA346501449 | SPAST | c.*874A>T (n.*874A>T) c.1214A>T (p.Asn405Ile) c.1211A>T (p.Asn404Ile) c.983-8115A>T c.1115A>T (p.Asn372Ile) c.988A>T c.956A>T (p.Asn319Ile) c.373A>T c.794A>T c.1090A>T c.860A>T (p.Asn287Ile) n.1951A>T n.427A>T c.664A>T c.561A>T c.860A>T c.1118A>T (p.Asn373Ile) n.906A>T c.714A>T | |
| 2 | g.32128449_32128452del | CA2573051934 | SPAST | c.*875_*878del (n.*875_*878del) c.1215_1218del (p.Asn405LysfsTer6) c.1212_1215del (p.Asn404LysfsTer6) c.983-8114_983-8111del c.1116_1119del (p.Asn372LysfsTer6) c.989_992del c.957_960del (p.Asn319LysfsTer6) c.374_377del c.795_798del c.1091_1094del c.861_864del (p.Asn287LysfsTer6) n.1952_1955del n.428_431del c.665_668del c.562_565del c.861_864del c.1119_1122del (p.Asn373LysfsTer6) n.907_910del c.715_718del | ClinVar dbSNP |
| 2 | g.32128449T>A | CA346501451 | SPAST | c.*875T>A (n.*875T>A) c.1215T>A (p.Asn405Lys) c.1212T>A (p.Asn404Lys) c.983-8114T>A c.1116T>A (p.Asn372Lys) c.989T>A c.957T>A (p.Asn319Lys) c.374T>A c.795T>A c.1091T>A c.861T>A (p.Asn287Lys) n.1952T>A n.428T>A c.665T>A c.562T>A c.861T>A c.1119T>A (p.Asn373Lys) n.907T>A c.715T>A | |
| 2 | g.32128449T>C | CA1600837 | SPAST | c.*875T>C (n.*875T>C) c.1215T>C (p.Asn405=) c.1212T>C (p.Asn404=) c.983-8114T>C c.1116T>C (p.Asn372=) c.989T>C c.957T>C (p.Asn319=) c.374T>C c.795T>C c.1091T>C c.861T>C (p.Asn287=) n.1952T>C n.428T>C c.665T>C c.562T>C c.861T>C c.1119T>C (p.Asn373=) n.907T>C c.715T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32128449T>G | CA346501452 | SPAST | c.*875T>G (n.*875T>G) c.1215T>G (p.Asn405Lys) c.1212T>G (p.Asn404Lys) c.983-8114T>G c.1116T>G (p.Asn372Lys) c.989T>G c.957T>G (p.Asn319Lys) c.374T>G c.795T>G c.1091T>G c.861T>G (p.Asn287Lys) n.1952T>G n.428T>G c.665T>G c.562T>G c.861T>G c.1119T>G (p.Asn373Lys) n.907T>G c.715T>G | |
| 2 | g.32128449T= | CA1242498135 | SPAST | c.*875T= (n.*875T=) c.1215T= (p.Asn405=) c.1212T= (p.Asn404=) c.983-8114T= c.1116T= (p.Asn372=) c.989T= c.957T= (p.Asn319=) c.374T= c.795T= c.1091T= c.861T= (p.Asn287=) n.1952T= n.428T= c.665T= c.562T= c.861T= c.1119T= (p.Asn373=) n.907T= c.715T= | |
| 2 | g.32128449dup | CA2586964720 | SPAST | c.*875dup (n.*875dup) c.1215dup (p.Ile406TyrfsTer?) c.1212dup (p.Ile405TyrfsTer?) c.983-8114dup c.1116dup (p.Ile373TyrfsTer?) c.989dup c.957dup (p.Ile320TyrfsTer?) c.374dup c.795dup c.1091dup c.861dup (p.Ile288TyrfsTer?) n.1952dup n.428dup c.665dup c.562dup c.861dup c.1119dup (p.Ile374TyrfsTer?) n.907dup c.715dup | |
| 2 | g.32128450A= | CA1242498136 | SPAST | c.*876A= (n.*876A=) c.1216A= (p.Ile406=) c.1213A= (p.Ile405=) c.983-8113A= c.1117A= (p.Ile373=) c.990A= c.958A= (p.Ile320=) c.375A= c.796A= c.1092A= c.862A= (p.Ile288=) n.1953A= n.429A= c.666A= c.563A= c.862A= c.1120A= (p.Ile374=) n.908A= c.716A= | |
| 2 | g.32128450A>C | CA346501453 | SPAST | c.*876A>C (n.*876A>C) c.1216A>C (p.Ile406Leu) c.1213A>C (p.Ile405Leu) c.983-8113A>C c.1117A>C (p.Ile373Leu) c.990A>C c.958A>C (p.Ile320Leu) c.375A>C c.796A>C c.1092A>C c.862A>C (p.Ile288Leu) n.1953A>C n.429A>C c.666A>C c.563A>C c.862A>C c.1120A>C (p.Ile374Leu) n.908A>C c.716A>C | |
| 2 | g.32128450A>G | CA253568 | SPAST | c.*876A>G (n.*876A>G) c.1216A>G (p.Ile406Val) c.1213A>G (p.Ile405Val) c.983-8113A>G c.1117A>G (p.Ile373Val) c.990A>G c.958A>G (p.Ile320Val) c.375A>G c.796A>G c.1092A>G c.862A>G (p.Ile288Val) n.1953A>G n.429A>G c.666A>G c.563A>G c.862A>G c.1120A>G (p.Ile374Val) n.908A>G c.716A>G | ClinVar dbSNP gnomAD v4 |
| 2 | g.32128450A>T | CA346501454 | SPAST | c.*876A>T (n.*876A>T) c.1216A>T (p.Ile406Leu) c.1213A>T (p.Ile405Leu) c.983-8113A>T c.1117A>T (p.Ile373Leu) c.990A>T c.958A>T (p.Ile320Leu) c.375A>T c.796A>T c.1092A>T c.862A>T (p.Ile288Leu) n.1953A>T n.429A>T c.666A>T c.563A>T c.862A>T c.1120A>T (p.Ile374Leu) n.908A>T c.716A>T | |
| 2 | g.32128450_32128479del | CA2586964721 | SPAST | c.*876_*905del (n.*876_*905del) c.1216_1245del (p.Ile406_Tyr415del) c.1213_1242del (p.Ile405_Tyr414del) c.983-8113_983-8084del c.1117_1146del (p.Ile373_Tyr382del) c.990_1019del c.958_987del (p.Ile320_Tyr329del) c.375_404del c.796_825del c.1092_1121del c.862_891del (p.Ile288_Tyr297del) n.1953_1982del n.429_458del c.666_695del c.563_592del c.862_891del c.1120_1149del (p.Ile374_Tyr383del) n.908_937del c.716_745del |