UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32140511_32146752dup | CA10575835 | SPAST | c.*1154-1393_*1348-466dup c.1494-1393_1688-466dup c.1491-1393_1685-466dup c.1231-1393_1425-466dup c.1395-1393_1589-466dup c.1268-1393_1391-466dup c.1236-1393_1430-466dup c.1074-1393_1268-466dup c.1370-1393_1564-443dup c.1140-1393_1334-466dup n.2231-1393_2425-466dup c.944-1393_1067-466dup c.673-1393_867-466dup c.1398-1393_1592-466dup n.1186-1393_1380-466dup c.994-1393_1188-466dup c.1494-1393_1617-466dup c.1398-1393_1521-466dup | |
| 2 | g.32141909_32141910insTTTTT | CA1029035982 | SPAST | c.*1159_*1160insTTTTT (n.*1159_*1160insTTTTT) c.1499_1500insTTTTT (p.Ile501PhefsTer31) c.1496_1497insTTTTT (p.Ile500PhefsTer31) c.1236_1237insTTTTT c.1400_1401insTTTTT (p.Ile468PhefsTer31) c.1273_1274insTTTTT c.1241_1242insTTTTT (p.Ile415PhefsTer31) c.566_567insTTTTT c.1079_1080insTTTTT c.1375_1376insTTTTT c.1145_1146insTTTTT (p.Ile383PhefsTer31) n.2236_2237insTTTTT c.949_950insTTTTT c.678_679insTTTTT c.1145_1146insTTTTT c.1403_1404insTTTTT (p.Ile469PhefsTer31) n.1191_1192insTTTTT c.999_1000insTTTTT | |
| 2 | g.32141909T>A | CA346502834 | SPAST | c.*1159T>A (n.*1159T>A) c.1499T>A (p.Phe500Tyr) c.1496T>A (p.Phe499Tyr) c.1236T>A c.1400T>A (p.Phe467Tyr) c.1273T>A c.1241T>A (p.Phe414Tyr) c.566T>A c.1079T>A c.1375T>A c.1145T>A (p.Phe382Tyr) n.2236T>A c.949T>A c.678T>A c.1145T>A c.1403T>A (p.Phe468Tyr) n.1191T>A c.999T>A | |
| 2 | g.32141909T>C | CA346502838 | SPAST | c.*1159T>C (n.*1159T>C) c.1499T>C (p.Phe500Ser) c.1496T>C (p.Phe499Ser) c.1236T>C c.1400T>C (p.Phe467Ser) c.1273T>C c.1241T>C (p.Phe414Ser) c.566T>C c.1079T>C c.1375T>C c.1145T>C (p.Phe382Ser) n.2236T>C c.949T>C c.678T>C c.1145T>C c.1403T>C (p.Phe468Ser) n.1191T>C c.999T>C | gnomAD v4 |
| 2 | g.32141909T>G | CA346502836 | SPAST | c.*1159T>G (n.*1159T>G) c.1499T>G (p.Phe500Cys) c.1496T>G (p.Phe499Cys) c.1236T>G c.1400T>G (p.Phe467Cys) c.1273T>G c.1241T>G (p.Phe414Cys) c.566T>G c.1079T>G c.1375T>G c.1145T>G (p.Phe382Cys) n.2236T>G c.949T>G c.678T>G c.1145T>G c.1403T>G (p.Phe468Cys) n.1191T>G c.999T>G | ClinVar dbSNP |
| 2 | g.32141909T= | CA1242504514 | SPAST | c.*1159T= (n.*1159T=) c.1499T= (p.Phe500=) c.1496T= (p.Phe499=) c.1236T= c.1400T= (p.Phe467=) c.1273T= c.1241T= (p.Phe414=) c.566T= c.1079T= c.1375T= c.1145T= (p.Phe382=) n.2236T= c.949T= c.678T= c.1145T= c.1403T= (p.Phe468=) n.1191T= c.999T= | |
| 2 | g.32141910C>A | CA346502839 | SPAST | c.*1160C>A (n.*1160C>A) c.1500C>A (p.Phe500Leu) c.1497C>A (p.Phe499Leu) c.1237C>A c.1401C>A (p.Phe467Leu) c.1274C>A c.1242C>A (p.Phe414Leu) c.567C>A c.1080C>A c.1376C>A c.1146C>A (p.Phe382Leu) n.2237C>A c.950C>A c.679C>A c.1146C>A c.1404C>A (p.Phe468Leu) n.1192C>A c.1000C>A | gnomAD v4 |
| 2 | g.32141910C>G | CA346502840 | SPAST | c.*1160C>G (n.*1160C>G) c.1500C>G (p.Phe500Leu) c.1497C>G (p.Phe499Leu) c.1237C>G c.1401C>G (p.Phe467Leu) c.1274C>G c.1242C>G (p.Phe414Leu) c.567C>G c.1080C>G c.1376C>G c.1146C>G (p.Phe382Leu) n.2237C>G c.950C>G c.679C>G c.1146C>G c.1404C>G (p.Phe468Leu) n.1192C>G c.1000C>G | ClinVar |
| 2 | g.32141910C>T | CA425451053 | SPAST | c.*1160C>T (n.*1160C>T) c.1500C>T (p.Phe500=) c.1497C>T (p.Phe499=) c.1237C>T c.1401C>T (p.Phe467=) c.1274C>T c.1242C>T (p.Phe414=) c.567C>T c.1080C>T c.1376C>T c.1146C>T (p.Phe382=) n.2237C>T c.950C>T c.679C>T c.1146C>T c.1404C>T (p.Phe468=) n.1192C>T c.1000C>T | |
| 2 | g.32141910_32141911insT | CA2586968961 | SPAST | c.*1160_*1161insT (n.*1160_*1161insT) c.1500_1501insT (p.Ile501TyrfsTer11) c.1497_1498insT (p.Ile500TyrfsTer11) c.1237_1238insT c.1401_1402insT (p.Ile468TyrfsTer11) c.1274_1275insT c.1242_1243insT (p.Ile415TyrfsTer11) c.567_568insT c.1080_1081insT c.1376_1377insT c.1146_1147insT (p.Ile383TyrfsTer11) n.2237_2238insT c.950_951insT c.679_680insT c.1146_1147insT c.1404_1405insT (p.Ile469TyrfsTer11) n.1192_1193insT c.1000_1001insT | |
| 2 | g.32141911A= | CA1242504515 | SPAST | c.*1161A= (n.*1161A=) c.1501A= (p.Ile501=) c.1498A= (p.Ile500=) c.1238A= c.1402A= (p.Ile468=) c.1275A= c.1243A= (p.Ile415=) c.568A= c.1081A= c.1377A= c.1147A= (p.Ile383=) n.2238A= c.951A= c.680A= c.1147A= c.1405A= (p.Ile469=) n.1193A= c.1001A= | |
| 2 | g.32141911A>C | CA16043744 | SPAST | c.*1161A>C (n.*1161A>C) c.1501A>C (p.Ile501Leu) c.1498A>C (p.Ile500Leu) c.1238A>C c.1402A>C (p.Ile468Leu) c.1275A>C c.1243A>C (p.Ile415Leu) c.568A>C c.1081A>C c.1377A>C c.1147A>C (p.Ile383Leu) n.2238A>C c.951A>C c.680A>C c.1147A>C c.1405A>C (p.Ile469Leu) n.1193A>C c.1001A>C | ClinVar dbSNP |
| 2 | g.32141911A>G | CA346502842 | SPAST | c.*1161A>G (n.*1161A>G) c.1501A>G (p.Ile501Val) c.1498A>G (p.Ile500Val) c.1238A>G c.1402A>G (p.Ile468Val) c.1275A>G c.1243A>G (p.Ile415Val) c.568A>G c.1081A>G c.1377A>G c.1147A>G (p.Ile383Val) n.2238A>G c.951A>G c.680A>G c.1147A>G c.1405A>G (p.Ile469Val) n.1193A>G c.1001A>G | gnomAD v4 COSMIC |
| 2 | g.32141911A>T | CA346502844 | SPAST | c.*1161A>T (n.*1161A>T) c.1501A>T (p.Ile501Phe) c.1498A>T (p.Ile500Phe) c.1238A>T c.1402A>T (p.Ile468Phe) c.1275A>T c.1243A>T (p.Ile415Phe) c.568A>T c.1081A>T c.1377A>T c.1147A>T (p.Ile383Phe) n.2238A>T c.951A>T c.680A>T c.1147A>T c.1405A>T (p.Ile469Phe) n.1193A>T c.1001A>T | |
| 2 | g.32141912T>A | CA346502846 | SPAST | c.*1162T>A (n.*1162T>A) c.1502T>A (p.Ile501Asn) c.1499T>A (p.Ile500Asn) c.1239T>A c.1403T>A (p.Ile468Asn) c.1276T>A c.1244T>A (p.Ile415Asn) c.569T>A c.1082T>A c.1378T>A c.1148T>A (p.Ile383Asn) n.2239T>A c.952T>A c.681T>A c.1148T>A c.1406T>A (p.Ile469Asn) n.1194T>A c.1002T>A | |
| 2 | g.32141912T>C | CA44753790 | SPAST | c.*1162T>C (n.*1162T>C) c.1502T>C (p.Ile501Thr) c.1499T>C (p.Ile500Thr) c.1239T>C c.1403T>C (p.Ile468Thr) c.1276T>C c.1244T>C (p.Ile415Thr) c.569T>C c.1082T>C c.1378T>C c.1148T>C (p.Ile383Thr) n.2239T>C c.952T>C c.681T>C c.1148T>C c.1406T>C (p.Ile469Thr) n.1194T>C c.1002T>C | dbSNP |
| 2 | g.32141912T>G | CA346502849 | SPAST | c.*1162T>G (n.*1162T>G) c.1502T>G (p.Ile501Ser) c.1499T>G (p.Ile500Ser) c.1239T>G c.1403T>G (p.Ile468Ser) c.1276T>G c.1244T>G (p.Ile415Ser) c.569T>G c.1082T>G c.1378T>G c.1148T>G (p.Ile383Ser) n.2239T>G c.952T>G c.681T>G c.1148T>G c.1406T>G (p.Ile469Ser) n.1194T>G c.1002T>G | |
| 2 | g.32141912T= | CA1242504516 | SPAST | c.*1162T= (n.*1162T=) c.1502T= (p.Ile501=) c.1499T= (p.Ile500=) c.1239T= c.1403T= (p.Ile468=) c.1276T= c.1244T= (p.Ile415=) c.569T= c.1082T= c.1378T= c.1148T= (p.Ile383=) n.2239T= c.952T= c.681T= c.1148T= c.1406T= (p.Ile469=) n.1194T= c.1002T= | |
| 2 | g.32141913C>A | CA425451067 | SPAST | c.*1163C>A (n.*1163C>A) c.1503C>A (p.Ile501=) c.1500C>A (p.Ile500=) c.1240C>A c.1404C>A (p.Ile468=) c.1277C>A c.1245C>A (p.Ile415=) c.570C>A c.1083C>A c.1379C>A c.1149C>A (p.Ile383=) n.2240C>A c.953C>A c.682C>A c.1149C>A c.1407C>A (p.Ile469=) n.1195C>A c.1003C>A | gnomAD v4 |
| 2 | g.32141913C>G | CA346502850 | SPAST | c.*1163C>G (n.*1163C>G) c.1503C>G (p.Ile501Met) c.1500C>G (p.Ile500Met) c.1240C>G c.1404C>G (p.Ile468Met) c.1277C>G c.1245C>G (p.Ile415Met) c.570C>G c.1083C>G c.1379C>G c.1149C>G (p.Ile383Met) n.2240C>G c.953C>G c.682C>G c.1149C>G c.1407C>G (p.Ile469Met) n.1195C>G c.1003C>G | |
| 2 | g.32141913C>T | CA425451065 | SPAST | c.*1163C>T (n.*1163C>T) c.1503C>T (p.Ile501=) c.1500C>T (p.Ile500=) c.1240C>T c.1404C>T (p.Ile468=) c.1277C>T c.1245C>T (p.Ile415=) c.570C>T c.1083C>T c.1379C>T c.1149C>T (p.Ile383=) n.2240C>T c.953C>T c.682C>T c.1149C>T c.1407C>T (p.Ile469=) n.1195C>T c.1003C>T | |
| 2 | g.32141914A= | CA1242504517 | SPAST | c.*1164A= (n.*1164A=) c.1504A= (p.Lys502=) c.1501A= (p.Lys501=) c.1241A= c.1405A= (p.Lys469=) c.1278A= c.1246A= (p.Lys416=) c.571A= c.1084A= c.1380A= c.1150A= (p.Lys384=) n.2241A= c.954A= c.683A= c.1150A= c.1408A= (p.Lys470=) n.1196A= c.1004A= | |
| 2 | g.32141914A>C | CA346502852 | SPAST | c.*1164A>C (n.*1164A>C) c.1504A>C (p.Lys502Gln) c.1501A>C (p.Lys501Gln) c.1241A>C c.1405A>C (p.Lys469Gln) c.1278A>C c.1246A>C (p.Lys416Gln) c.571A>C c.1084A>C c.1380A>C c.1150A>C (p.Lys384Gln) n.2241A>C c.954A>C c.683A>C c.1150A>C c.1408A>C (p.Lys470Gln) n.1196A>C c.1004A>C | |
| 2 | g.32141914A>G | CA346502853 | SPAST | c.*1164A>G (n.*1164A>G) c.1504A>G (p.Lys502Glu) c.1501A>G (p.Lys501Glu) c.1241A>G c.1405A>G (p.Lys469Glu) c.1278A>G c.1246A>G (p.Lys416Glu) c.571A>G c.1084A>G c.1380A>G c.1150A>G (p.Lys384Glu) n.2241A>G c.954A>G c.683A>G c.1150A>G c.1408A>G (p.Lys470Glu) n.1196A>G c.1004A>G | ClinVar gnomAD v4 |
| 2 | g.32141914A>T | CA346502855 | SPAST | c.*1164A>T (n.*1164A>T) c.1504A>T (p.Lys502Ter) c.1501A>T (p.Lys501Ter) c.1241A>T c.1405A>T (p.Lys469Ter) c.1278A>T c.1246A>T (p.Lys416Ter) c.571A>T c.1084A>T c.1380A>T c.1150A>T (p.Lys384Ter) n.2241A>T c.954A>T c.683A>T c.1150A>T c.1408A>T (p.Lys470Ter) n.1196A>T c.1004A>T | dbSNP |
| 2 | g.32141916del | CA2499215912 | SPAST | c.*1166del (n.*1166del) c.1506del (p.Lys502AsnfsTer28) c.1503del (p.Lys501AsnfsTer28) c.1243del c.1407del (p.Lys469AsnfsTer28) c.1280del c.1248del (p.Lys416AsnfsTer28) c.573del c.1086del c.1382del c.1152del (p.Lys384AsnfsTer28) n.2243del c.956del c.685del c.1152del c.1410del (p.Lys470AsnfsTer28) n.1198del c.1006del | ClinVar dbSNP |
| 2 | g.32141915A= | CA1242504518 | SPAST | c.*1165A= (n.*1165A=) c.1505A= (p.Lys502=) c.1502A= (p.Lys501=) c.1242A= c.1406A= (p.Lys469=) c.1279A= c.1247A= (p.Lys416=) c.572A= c.1085A= c.1381A= c.1151A= (p.Lys384=) n.2242A= c.955A= c.684A= c.1151A= c.1409A= (p.Lys470=) n.1197A= c.1005A= | |
| 2 | g.32141915A>C | CA346502858 | SPAST | c.*1165A>C (n.*1165A>C) c.1505A>C (p.Lys502Thr) c.1502A>C (p.Lys501Thr) c.1242A>C c.1406A>C (p.Lys469Thr) c.1279A>C c.1247A>C (p.Lys416Thr) c.572A>C c.1085A>C c.1381A>C c.1151A>C (p.Lys384Thr) n.2242A>C c.955A>C c.684A>C c.1151A>C c.1409A>C (p.Lys470Thr) n.1197A>C c.1005A>C | ClinVar dbSNP |
| 2 | g.32141915A>G | CA346502859 | SPAST | c.*1165A>G (n.*1165A>G) c.1505A>G (p.Lys502Arg) c.1502A>G (p.Lys501Arg) c.1242A>G c.1406A>G (p.Lys469Arg) c.1279A>G c.1247A>G (p.Lys416Arg) c.572A>G c.1085A>G c.1381A>G c.1151A>G (p.Lys384Arg) n.2242A>G c.955A>G c.684A>G c.1151A>G c.1409A>G (p.Lys470Arg) n.1197A>G c.1005A>G | gnomAD v4 |
| 2 | g.32141915A>T | CA346502856 | SPAST | c.*1165A>T (n.*1165A>T) c.1505A>T (p.Lys502Ile) c.1502A>T (p.Lys501Ile) c.1242A>T c.1406A>T (p.Lys469Ile) c.1279A>T c.1247A>T (p.Lys416Ile) c.572A>T c.1085A>T c.1381A>T c.1151A>T (p.Lys384Ile) n.2242A>T c.955A>T c.684A>T c.1151A>T c.1409A>T (p.Lys470Ile) n.1197A>T c.1005A>T | |
| 2 | g.32141916A>C | CA346502863 | SPAST | c.*1166A>C (n.*1166A>C) c.1506A>C (p.Lys502Asn) c.1503A>C (p.Lys501Asn) c.1243A>C c.1407A>C (p.Lys469Asn) c.1280A>C c.1248A>C (p.Lys416Asn) c.573A>C c.1086A>C c.1382A>C c.1152A>C (p.Lys384Asn) n.2243A>C c.956A>C c.685A>C c.1152A>C c.1410A>C (p.Lys470Asn) n.1198A>C c.1006A>C | |
| 2 | g.32141916A>G | CA425451088 | SPAST | c.*1166A>G (n.*1166A>G) c.1506A>G (p.Lys502=) c.1503A>G (p.Lys501=) c.1243A>G c.1407A>G (p.Lys469=) c.1280A>G c.1248A>G (p.Lys416=) c.573A>G c.1086A>G c.1382A>G c.1152A>G (p.Lys384=) n.2243A>G c.956A>G c.685A>G c.1152A>G c.1410A>G (p.Lys470=) n.1198A>G c.1006A>G | |
| 2 | g.32141916A>T | CA346502861 | SPAST | c.*1166A>T (n.*1166A>T) c.1506A>T (p.Lys502Asn) c.1503A>T (p.Lys501Asn) c.1243A>T c.1407A>T (p.Lys469Asn) c.1280A>T c.1248A>T (p.Lys416Asn) c.573A>T c.1086A>T c.1382A>T c.1152A>T (p.Lys384Asn) n.2243A>T c.956A>T c.685A>T c.1152A>T c.1410A>T (p.Lys470Asn) n.1198A>T c.1006A>T | |
| 2 | g.32141917C>A | CA425451091 | SPAST | c.*1167C>A (n.*1167C>A) c.1507C>A (p.Arg503=) c.1504C>A (p.Arg502=) c.1244C>A c.1408C>A (p.Arg470=) c.1281C>A c.1249C>A (p.Arg417=) c.574C>A c.1087C>A c.1383C>A c.1153C>A (p.Arg385=) n.2244C>A c.957C>A c.686C>A c.1153C>A c.1411C>A (p.Arg471=) n.1199C>A c.1007C>A | |
| 2 | g.32141917C= | CA1242504519 | SPAST | c.*1167C= (n.*1167C=) c.1507C= (p.Arg503=) c.1504C= (p.Arg502=) c.1244C= c.1408C= (p.Arg470=) c.1281C= c.1249C= (p.Arg417=) c.574C= c.1087C= c.1383C= c.1153C= (p.Arg385=) n.2244C= c.957C= c.686C= c.1153C= c.1411C= (p.Arg471=) n.1199C= c.1007C= | |
| 2 | g.32141917C>G | CA346502865 | SPAST | c.*1167C>G (n.*1167C>G) c.1507C>G (p.Arg503Gly) c.1504C>G (p.Arg502Gly) c.1244C>G c.1408C>G (p.Arg470Gly) c.1281C>G c.1249C>G (p.Arg417Gly) c.574C>G c.1087C>G c.1383C>G c.1153C>G (p.Arg385Gly) n.2244C>G c.957C>G c.686C>G c.1153C>G c.1411C>G (p.Arg471Gly) n.1199C>G c.1007C>G | |
| 2 | g.32141917C>T | CA348315 | SPAST | c.*1167C>T (n.*1167C>T) c.1507C>T (p.Arg503Trp) c.1504C>T (p.Arg502Trp) c.1244C>T c.1408C>T (p.Arg470Trp) c.1281C>T c.1249C>T (p.Arg417Trp) c.574C>T c.1087C>T c.1383C>T c.1153C>T (p.Arg385Trp) n.2244C>T c.957C>T c.686C>T c.1153C>T c.1411C>T (p.Arg471Trp) n.1199C>T c.1007C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.32141917_32141919dup | CA2586968964 | SPAST | c.*1167_*1169dup (n.*1167_*1169dup) c.1507_1509dup (p.Arg503_Val504insArg) c.1504_1506dup (p.Arg502_Val503insArg) c.1244_1246dup c.1408_1410dup (p.Arg470_Val471insArg) c.1281_1283dup c.1249_1251dup (p.Arg417_Val418insArg) c.574_576dup c.1087_1089dup c.1383_1385dup c.1153_1155dup (p.Arg385_Val386insArg) n.2244_2246dup c.957_959dup c.686_688dup c.1153_1155dup c.1411_1413dup (p.Arg471_Val472insArg) n.1199_1201dup c.1007_1009dup | |
| 2 | g.32141918G>A | CA346502866 | SPAST | c.*1168G>A (n.*1168G>A) c.1508G>A (p.Arg503Gln) c.1505G>A (p.Arg502Gln) c.1245G>A c.1409G>A (p.Arg470Gln) c.1282G>A c.1250G>A (p.Arg417Gln) c.575G>A c.1088G>A c.1384G>A c.1154G>A (p.Arg385Gln) n.2245G>A c.958G>A c.687G>A c.1154G>A c.1412G>A (p.Arg471Gln) n.1200G>A c.1008G>A | ClinVar gnomAD v4 |
| 2 | g.32141918G>C | CA346502868 | SPAST | c.*1168G>C (n.*1168G>C) c.1508G>C (p.Arg503Pro) c.1505G>C (p.Arg502Pro) c.1245G>C c.1409G>C (p.Arg470Pro) c.1282G>C c.1250G>C (p.Arg417Pro) c.575G>C c.1088G>C c.1384G>C c.1154G>C (p.Arg385Pro) n.2245G>C c.958G>C c.687G>C c.1154G>C c.1412G>C (p.Arg471Pro) n.1200G>C c.1008G>C | |
| 2 | g.32141918G= | CA1242504520 | SPAST | c.*1168G= (n.*1168G=) c.1508G= (p.Arg503=) c.1505G= (p.Arg502=) c.1245G= c.1409G= (p.Arg470=) c.1282G= c.1250G= (p.Arg417=) c.575G= c.1088G= c.1384G= c.1154G= (p.Arg385=) n.2245G= c.958G= c.687G= c.1154G= c.1412G= (p.Arg471=) n.1200G= c.1008G= | |
| 2 | g.32141918G>T | CA346502870 | SPAST | c.*1168G>T (n.*1168G>T) c.1508G>T (p.Arg503Leu) c.1505G>T (p.Arg502Leu) c.1245G>T c.1409G>T (p.Arg470Leu) c.1282G>T c.1250G>T (p.Arg417Leu) c.575G>T c.1088G>T c.1384G>T c.1154G>T (p.Arg385Leu) n.2245G>T c.958G>T c.687G>T c.1154G>T c.1412G>T (p.Arg471Leu) n.1200G>T c.1008G>T | dbSNP |
| 2 | g.32141920dup | CA2586968966 | SPAST | c.*1170dup (n.*1170dup) c.1510dup (p.Val504GlyfsTer8) c.1507dup (p.Val503GlyfsTer8) c.1247dup c.1411dup (p.Val471GlyfsTer8) c.1284dup c.1252dup (p.Val418GlyfsTer8) c.577dup c.1090dup c.1386dup c.1156dup (p.Val386GlyfsTer8) n.2247dup c.960dup c.689dup c.1156dup c.1414dup (p.Val472GlyfsTer8) n.1202dup c.1010dup | |
| 2 | g.32141919G>A | CA425451104 | SPAST | c.*1169G>A (n.*1169G>A) c.1509G>A (p.Arg503=) c.1506G>A (p.Arg502=) c.1246G>A c.1410G>A (p.Arg470=) c.1283G>A c.1251G>A (p.Arg417=) c.576G>A c.1089G>A c.1385G>A c.1155G>A (p.Arg385=) n.2246G>A c.959G>A c.688G>A c.1155G>A c.1413G>A (p.Arg471=) n.1201G>A c.1009G>A | dbSNP gnomAD v4 |
| 2 | g.32141919G>C | CA425451106 | SPAST | c.*1169G>C (n.*1169G>C) c.1509G>C (p.Arg503=) c.1506G>C (p.Arg502=) c.1246G>C c.1410G>C (p.Arg470=) c.1283G>C c.1251G>C (p.Arg417=) c.576G>C c.1089G>C c.1385G>C c.1155G>C (p.Arg385=) n.2246G>C c.959G>C c.688G>C c.1155G>C c.1413G>C (p.Arg471=) n.1201G>C c.1009G>C | |
| 2 | g.32141919G= | CA1242504521 | SPAST | c.*1169G= (n.*1169G=) c.1509G= (p.Arg503=) c.1506G= (p.Arg502=) c.1246G= c.1410G= (p.Arg470=) c.1283G= c.1251G= (p.Arg417=) c.576G= c.1089G= c.1385G= c.1155G= (p.Arg385=) n.2246G= c.959G= c.688G= c.1155G= c.1413G= (p.Arg471=) n.1201G= c.1009G= | |
| 2 | g.32141919G>T | CA425451109 | SPAST | c.*1169G>T (n.*1169G>T) c.1509G>T (p.Arg503=) c.1506G>T (p.Arg502=) c.1246G>T c.1410G>T (p.Arg470=) c.1283G>T c.1251G>T (p.Arg417=) c.576G>T c.1089G>T c.1385G>T c.1155G>T (p.Arg385=) n.2246G>T c.959G>T c.688G>T c.1155G>T c.1413G>T (p.Arg471=) n.1201G>T c.1009G>T | gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.32141920_32141941del | CA2586968967 | SPAST | c.*1170_*1191del (n.*1170_*1191del) c.1510_1531del (p.Val504ArgfsTer19) c.1507_1528del (p.Val503ArgfsTer19) c.1247_1268del c.1411_1432del (p.Val471ArgfsTer19) c.1284_1305del c.1252_1273del (p.Val418ArgfsTer19) c.577_598del c.1090_1111del c.1386_1407del c.1156_1177del (p.Val386ArgfsTer19) n.2247_2268del c.960_981del c.689_710del c.1156_1177del c.1414_1435del (p.Val472ArgfsTer19) n.1202_1223del c.1010_1031del | |
| 2 | g.32141920G>A | CA346502872 | SPAST | c.*1170G>A (n.*1170G>A) c.1510G>A (p.Val504Ile) c.1507G>A (p.Val503Ile) c.1247G>A c.1411G>A (p.Val471Ile) c.1284G>A c.1252G>A (p.Val418Ile) c.577G>A c.1090G>A c.1386G>A c.1156G>A (p.Val386Ile) n.2247G>A c.960G>A c.689G>A c.1156G>A c.1414G>A (p.Val472Ile) n.1202G>A c.1010G>A | |
| 2 | g.32141920G>C | CA346502873 | SPAST | c.*1170G>C (n.*1170G>C) c.1510G>C (p.Val504Leu) c.1507G>C (p.Val503Leu) c.1247G>C c.1411G>C (p.Val471Leu) c.1284G>C c.1252G>C (p.Val418Leu) c.577G>C c.1090G>C c.1386G>C c.1156G>C (p.Val386Leu) n.2247G>C c.960G>C c.689G>C c.1156G>C c.1414G>C (p.Val472Leu) n.1202G>C c.1010G>C |