Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.32140511_32146752dupCA10575835SPASTc.*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
2g.32141916delCA2499215912SPASTc.*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
2g.32141915A=CA1242504518SPASTc.*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=
2g.32141915A>CCA346502858SPASTc.*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
2g.32141915A>GCA346502859SPASTc.*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
2g.32141915A>TCA346502856SPASTc.*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
2g.32141916A>CCA346502863SPASTc.*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
2g.32141916A>GCA425451088SPASTc.*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
2g.32141916A>TCA346502861SPASTc.*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
2g.32141917C>ACA425451091SPASTc.*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
2g.32141917C=CA1242504519SPASTc.*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=
2g.32141917C>GCA346502865SPASTc.*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
2g.32141917C>TCA348315SPASTc.*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
2g.32141917_32141919dupCA2586968964SPASTc.*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
2g.32141918G>ACA346502866SPASTc.*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
2g.32141918G>CCA346502868SPASTc.*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
2g.32141918G=CA1242504520SPASTc.*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=
2g.32141918G>TCA346502870SPASTc.*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
2g.32141920dupCA2586968966SPASTc.*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
2g.32141919G>ACA425451104SPASTc.*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
2g.32141919G>CCA425451106SPASTc.*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
2g.32141919G=CA1242504521SPASTc.*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=
2g.32141919G>TCA425451109SPASTc.*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
2g.32141920_32141941delCA2586968967SPASTc.*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
2g.32141920G>ACA346502872SPASTc.*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
2g.32141920G>CCA346502873SPASTc.*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
2g.32141920G=CA1242504522SPASTc.*1170G= (n.*1170G=)
c.1510G= (p.Val504=)
c.1507G= (p.Val503=)
c.1247G=
c.1411G= (p.Val471=)
c.1284G=
c.1252G= (p.Val418=)
c.577G=
c.1090G=
c.1386G=
c.1156G= (p.Val386=)
n.2247G=
c.960G=
c.689G=
c.1156G=
c.1414G= (p.Val472=)
n.1202G=
c.1010G=
2g.32141920G>TCA44753798SPASTc.*1170G>T (n.*1170G>T)
c.1510G>T (p.Val504Leu)
c.1507G>T (p.Val503Leu)
c.1247G>T
c.1411G>T (p.Val471Leu)
c.1284G>T
c.1252G>T (p.Val418Leu)
c.577G>T
c.1090G>T
c.1386G>T
c.1156G>T (p.Val386Leu)
n.2247G>T
c.960G>T
c.689G>T
c.1156G>T
c.1414G>T (p.Val472Leu)
n.1202G>T
c.1010G>T
 dbSNP
2g.32141920_32141922delinsGTACA1242504523SPASTc.*1170_*1172delinsGTA (n.*1170_*1172delinsGTA)
c.1510_1512delinsGTA (p.Val504=)
c.1507_1509delinsGTA (p.Val503=)
c.1247_1249delinsGTA
c.1411_1413delinsGTA (p.Val471=)
c.1284_1286delinsGTA
c.1252_1254delinsGTA (p.Val418=)
c.577_579delinsGTA
c.1090_1092delinsGTA
c.1386_1388delinsGTA
c.1156_1158delinsGTA (p.Val386=)
n.2247_2249delinsGTA
c.960_962delinsGTA
c.689_691delinsGTA
c.1156_1158delinsGTA
c.1414_1416delinsGTA (p.Val472=)
n.1202_1204delinsGTA
c.1010_1012delinsGTA
2g.32141921T>ACA346502876SPASTc.*1171T>A (n.*1171T>A)
c.1511T>A (p.Val504Glu)
c.1508T>A (p.Val503Glu)
c.1248T>A
c.1412T>A (p.Val471Glu)
c.1285T>A
c.1253T>A (p.Val418Glu)
c.578T>A
c.1091T>A
c.1387T>A
c.1157T>A (p.Val386Glu)
n.2248T>A
c.961T>A
c.690T>A
c.1157T>A
c.1415T>A (p.Val472Glu)
n.1203T>A
c.1011T>A
2g.32141921T>CCA346502878SPASTc.*1171T>C (n.*1171T>C)
c.1511T>C (p.Val504Ala)
c.1508T>C (p.Val503Ala)
c.1248T>C
c.1412T>C (p.Val471Ala)
c.1285T>C
c.1253T>C (p.Val418Ala)
c.578T>C
c.1091T>C
c.1387T>C
c.1157T>C (p.Val386Ala)
n.2248T>C
c.961T>C
c.690T>C
c.1157T>C
c.1415T>C (p.Val472Ala)
n.1203T>C
c.1011T>C
2g.32141921T>GCA346502879SPASTc.*1171T>G (n.*1171T>G)
c.1511T>G (p.Val504Gly)
c.1508T>G (p.Val503Gly)
c.1248T>G
c.1412T>G (p.Val471Gly)
c.1285T>G
c.1253T>G (p.Val418Gly)
c.578T>G
c.1091T>G
c.1387T>G
c.1157T>G (p.Val386Gly)
n.2248T>G
c.961T>G
c.690T>G
c.1157T>G
c.1415T>G (p.Val472Gly)
n.1203T>G
c.1011T>G
2g.32141921dupCA2586968968SPASTc.*1171dup (n.*1171dup)
c.1511dup (p.Tyr505IlefsTer7)
c.1508dup (p.Tyr504IlefsTer7)
c.1248dup
c.1412dup (p.Tyr472IlefsTer7)
c.1285dup
c.1253dup (p.Tyr419IlefsTer7)
c.578dup
c.1091dup
c.1387dup
c.1157dup (p.Tyr387IlefsTer7)
n.2248dup
c.961dup
c.690dup
c.1157dup
c.1415dup (p.Tyr473IlefsTer7)
n.1203dup
c.1011dup
2g.32141924_32141925delCA1242504524SPASTc.*1174_*1175del (n.*1174_*1175del)
c.1514_1515del (p.Tyr505CysfsTer6)
c.1511_1512del (p.Tyr504CysfsTer6)
c.1251_1252del
c.1415_1416del (p.Tyr472CysfsTer6)
c.1288_1289del
c.1256_1257del (p.Tyr419CysfsTer6)
c.581_582del
c.1094_1095del
c.1390_1391del
c.1160_1161del (p.Tyr387CysfsTer6)
n.2251_2252del
c.964_965del
c.693_694del
c.1160_1161del
c.1418_1419del (p.Tyr473CysfsTer6)
n.1206_1207del
c.1014_1015del
 ClinVar dbSNP
2g.32141922A=CA1242504525SPASTc.*1172A= (n.*1172A=)
c.1512A= (p.Val504=)
c.1509A= (p.Val503=)
c.1249A=
c.1413A= (p.Val471=)
c.1286A=
c.1254A= (p.Val418=)
c.579A=
c.1092A=
c.1388A=
c.1158A= (p.Val386=)
n.2249A=
c.962A=
c.691A=
c.1158A=
c.1416A= (p.Val472=)
n.1204A=
c.1012A=
2g.32141922A>CCA425451126SPASTc.*1172A>C (n.*1172A>C)
c.1512A>C (p.Val504=)
c.1509A>C (p.Val503=)
c.1249A>C
c.1413A>C (p.Val471=)
c.1286A>C
c.1254A>C (p.Val418=)
c.579A>C
c.1092A>C
c.1388A>C
c.1158A>C (p.Val386=)
n.2249A>C
c.962A>C
c.691A>C
c.1158A>C
c.1416A>C (p.Val472=)
n.1204A>C
c.1012A>C
2g.32141922A>GCA1600925SPASTc.*1172A>G (n.*1172A>G)
c.1512A>G (p.Val504=)
c.1509A>G (p.Val503=)
c.1249A>G
c.1413A>G (p.Val471=)
c.1286A>G
c.1254A>G (p.Val418=)
c.579A>G
c.1092A>G
c.1388A>G
c.1158A>G (p.Val386=)
n.2249A>G
c.962A>G
c.691A>G
c.1158A>G
c.1416A>G (p.Val472=)
n.1204A>G
c.1012A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32141922A>TCA425451129SPASTc.*1172A>T (n.*1172A>T)
c.1512A>T (p.Val504=)
c.1509A>T (p.Val503=)
c.1249A>T
c.1413A>T (p.Val471=)
c.1286A>T
c.1254A>T (p.Val418=)
c.579A>T
c.1092A>T
c.1388A>T
c.1158A>T (p.Val386=)
n.2249A>T
c.962A>T
c.691A>T
c.1158A>T
c.1416A>T (p.Val472=)
n.1204A>T
c.1012A>T
2g.32141922_32141924dupCA2586968969SPASTc.*1172_*1174dup (n.*1172_*1174dup)
c.1512_1514dup (p.Tyr505Ter)
c.1509_1511dup (p.Tyr504Ter)
c.1249_1251dup
c.1413_1415dup (p.Tyr472Ter)
c.1286_1288dup
c.1254_1256dup (p.Tyr419Ter)
c.579_581dup
c.1092_1094dup
c.1388_1390dup
c.1158_1160dup (p.Tyr387Ter)
n.2249_2251dup
c.962_964dup
c.691_693dup
c.1158_1160dup
c.1416_1418dup (p.Tyr473Ter)
n.1204_1206dup
c.1012_1014dup
2g.32141923T>ACA346502885SPASTc.*1173T>A (n.*1173T>A)
c.1513T>A (p.Tyr505Asn)
c.1510T>A (p.Tyr504Asn)
c.1250T>A
c.1414T>A (p.Tyr472Asn)
c.1287T>A
c.1255T>A (p.Tyr419Asn)
c.580T>A
c.1093T>A
c.1389T>A
c.1159T>A (p.Tyr387Asn)
n.2250T>A
c.963T>A
c.692T>A
c.1159T>A
c.1417T>A (p.Tyr473Asn)
n.1205T>A
c.1013T>A
2g.32141923T>CCA346502883SPASTc.*1173T>C (n.*1173T>C)
c.1513T>C (p.Tyr505His)
c.1510T>C (p.Tyr504His)
c.1250T>C
c.1414T>C (p.Tyr472His)
c.1287T>C
c.1255T>C (p.Tyr419His)
c.580T>C
c.1093T>C
c.1389T>C
c.1159T>C (p.Tyr387His)
n.2250T>C
c.963T>C
c.692T>C
c.1159T>C
c.1417T>C (p.Tyr473His)
n.1205T>C
c.1013T>C
2g.32141923T>GCA346502882SPASTc.*1173T>G (n.*1173T>G)
c.1513T>G (p.Tyr505Asp)
c.1510T>G (p.Tyr504Asp)
c.1250T>G
c.1414T>G (p.Tyr472Asp)
c.1287T>G
c.1255T>G (p.Tyr419Asp)
c.580T>G
c.1093T>G
c.1389T>G
c.1159T>G (p.Tyr387Asp)
n.2250T>G
c.963T>G
c.692T>G
c.1159T>G
c.1417T>G (p.Tyr473Asp)
n.1205T>G
c.1013T>G
2g.32141924A=CA1242504526SPASTc.*1174A= (n.*1174A=)
c.1514A= (p.Tyr505=)
c.1511A= (p.Tyr504=)
c.1251A=
c.1415A= (p.Tyr472=)
c.1288A=
c.1256A= (p.Tyr419=)
c.581A=
c.1094A=
c.1390A=
c.1160A= (p.Tyr387=)
n.2251A=
c.964A=
c.693A=
c.1160A=
c.1418A= (p.Tyr473=)
n.1206A=
c.1014A=
2g.32141924A>CCA346502887SPASTc.*1174A>C (n.*1174A>C)
c.1514A>C (p.Tyr505Ser)
c.1511A>C (p.Tyr504Ser)
c.1251A>C
c.1415A>C (p.Tyr472Ser)
c.1288A>C
c.1256A>C (p.Tyr419Ser)
c.581A>C
c.1094A>C
c.1390A>C
c.1160A>C (p.Tyr387Ser)
n.2251A>C
c.964A>C
c.693A>C
c.1160A>C
c.1418A>C (p.Tyr473Ser)
n.1206A>C
c.1014A>C
2g.32141924A>GCA346502888SPASTc.*1174A>G (n.*1174A>G)
c.1514A>G (p.Tyr505Cys)
c.1511A>G (p.Tyr504Cys)
c.1251A>G
c.1415A>G (p.Tyr472Cys)
c.1288A>G
c.1256A>G (p.Tyr419Cys)
c.581A>G
c.1094A>G
c.1390A>G
c.1160A>G (p.Tyr387Cys)
n.2251A>G
c.964A>G
c.693A>G
c.1160A>G
c.1418A>G (p.Tyr473Cys)
n.1206A>G
c.1014A>G
 dbSNP gnomAD v2 gnomAD v4
2g.32141924A>TCA346502890SPASTc.*1174A>T (n.*1174A>T)
c.1514A>T (p.Tyr505Phe)
c.1511A>T (p.Tyr504Phe)
c.1251A>T
c.1415A>T (p.Tyr472Phe)
c.1288A>T
c.1256A>T (p.Tyr419Phe)
c.581A>T
c.1094A>T
c.1390A>T
c.1160A>T (p.Tyr387Phe)
n.2251A>T
c.964A>T
c.693A>T
c.1160A>T
c.1418A>T (p.Tyr473Phe)
n.1206A>T
c.1014A>T
2g.32141925T>ACA346502892SPASTc.*1175T>A (n.*1175T>A)
c.1515T>A (p.Tyr505Ter)
c.1512T>A (p.Tyr504Ter)
c.1252T>A
c.1416T>A (p.Tyr472Ter)
c.1289T>A
c.1257T>A (p.Tyr419Ter)
c.582T>A
c.1095T>A
c.1391T>A
c.1161T>A (p.Tyr387Ter)
n.2252T>A
c.965T>A
c.694T>A
c.1161T>A
c.1419T>A (p.Tyr473Ter)
n.1207T>A
c.1015T>A
2g.32141925T>CCA1600926SPASTc.*1175T>C (n.*1175T>C)
c.1515T>C (p.Tyr505=)
c.1512T>C (p.Tyr504=)
c.1252T>C
c.1416T>C (p.Tyr472=)
c.1289T>C
c.1257T>C (p.Tyr419=)
c.582T>C
c.1095T>C
c.1391T>C
c.1161T>C (p.Tyr387=)
n.2252T>C
c.965T>C
c.694T>C
c.1161T>C
c.1419T>C (p.Tyr473=)
n.1207T>C
c.1015T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32141925T>GCA346502893SPASTc.*1175T>G (n.*1175T>G)
c.1515T>G (p.Tyr505Ter)
c.1512T>G (p.Tyr504Ter)
c.1252T>G
c.1416T>G (p.Tyr472Ter)
c.1289T>G
c.1257T>G (p.Tyr419Ter)
c.582T>G
c.1095T>G
c.1391T>G
c.1161T>G (p.Tyr387Ter)
n.2252T>G
c.965T>G
c.694T>G
c.1161T>G
c.1419T>G (p.Tyr473Ter)
n.1207T>G
c.1015T>G
2g.32141925T=CA1242504527SPASTc.*1175T= (n.*1175T=)
c.1515T= (p.Tyr505=)
c.1512T= (p.Tyr504=)
c.1252T=
c.1416T= (p.Tyr472=)
c.1289T=
c.1257T= (p.Tyr419=)
c.582T=
c.1095T=
c.1391T=
c.1161T= (p.Tyr387=)
n.2252T=
c.965T=
c.694T=
c.1161T=
c.1419T= (p.Tyr473=)
n.1207T=
c.1015T=

Number of alleles fetched