Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.32146840_32148799delCA339671SPASTc.*1348-378_*1388+1541del
c.1688-378_1728+1541del
c.1685-378_1725+1541del
c.1425-378_1465+1541del
c.1589-378_1629+1541del
c.1391-378_1431+1541del
c.1430-378_1470+1541del
c.1268-378_1308+1541del
c.1564-355_1627+1541del
c.1334-378_1374+1541del
n.2425-378_2465+1541del
c.1067-378_1107+1541del
c.867-378_907+1541del
c.1592-378_1632+1541del
n.1380-378_1420+1541del
c.1188-378_1228+1541del
c.1617-378_*1+1541del
c.1521-378_*1+1541del
 ClinVar
2g.32147221_32147232delCA2499215921SPASTc.*1351_*1362del
c.1691_1702del
c.1688_1699del
c.1428_1439del
c.1592_1603del
c.1394_1405del
c.1433_1444del
c.1271_1282del
c.1590_1601del
c.1337_1348del
n.2428_2439del
c.1070_1081del
c.870_881del
c.1595_1606del
n.1383_1394del
c.1191_1202del
c.1620_1631del
c.1524_1535del
 ClinVar
2g.32147216A=CA1242506971SPASTc.*1348-2A= (n.*1348-2A=)
c.1688-2A= (n.1688-2A=)
c.1685-2A= (n.1685-2A=)
c.1425-2A=
c.1589-2A= (n.1589-2A=)
c.1391-2A=
c.1430-2A= (n.1430-2A=)
c.1268-2A=
c.1585A=
c.1334-2A= (n.1334-2A=)
n.2425-2A=
c.1067-2A=
c.867-2A=
c.1334-2A=
c.1592-2A= (n.1592-2A=)
n.1380-2A=
c.1188-2A=
c.1617-2A= (n.1617-2A=)
c.1521-2A= (n.1521-2A=)
2g.32147216A>CCA346504299SPASTc.*1348-2A>C (n.*1348-2A>C)
c.1688-2A>C (n.1688-2A>C)
c.1685-2A>C (n.1685-2A>C)
c.1425-2A>C
c.1589-2A>C (n.1589-2A>C)
c.1391-2A>C
c.1430-2A>C (n.1430-2A>C)
c.1268-2A>C
c.1585A>C
c.1334-2A>C (n.1334-2A>C)
n.2425-2A>C
c.1067-2A>C
c.867-2A>C
c.1334-2A>C
c.1592-2A>C (n.1592-2A>C)
n.1380-2A>C
c.1188-2A>C
c.1617-2A>C (n.1617-2A>C)
c.1521-2A>C (n.1521-2A>C)
2g.32147216A>GCA253553SPASTc.*1348-2A>G (n.*1348-2A>G)
c.1688-2A>G (n.1688-2A>G)
c.1685-2A>G (n.1685-2A>G)
c.1425-2A>G
c.1589-2A>G (n.1589-2A>G)
c.1391-2A>G
c.1430-2A>G (n.1430-2A>G)
c.1268-2A>G
c.1585A>G
c.1334-2A>G (n.1334-2A>G)
n.2425-2A>G
c.1067-2A>G
c.867-2A>G
c.1334-2A>G
c.1592-2A>G (n.1592-2A>G)
n.1380-2A>G
c.1188-2A>G
c.1617-2A>G (n.1617-2A>G)
c.1521-2A>G (n.1521-2A>G)
 ClinVar dbSNP
2g.32147216A>TCA346504300SPASTc.*1348-2A>T (n.*1348-2A>T)
c.1688-2A>T (n.1688-2A>T)
c.1685-2A>T (n.1685-2A>T)
c.1425-2A>T
c.1589-2A>T (n.1589-2A>T)
c.1391-2A>T
c.1430-2A>T (n.1430-2A>T)
c.1268-2A>T
c.1585A>T
c.1334-2A>T (n.1334-2A>T)
n.2425-2A>T
c.1067-2A>T
c.867-2A>T
c.1334-2A>T
c.1592-2A>T (n.1592-2A>T)
n.1380-2A>T
c.1188-2A>T
c.1617-2A>T (n.1617-2A>T)
c.1521-2A>T (n.1521-2A>T)
2g.32147217G>ACA346504301SPASTc.*1348-1G>A (n.*1348-1G>A)
c.1688-1G>A (n.1688-1G>A)
c.1685-1G>A (n.1685-1G>A)
c.1425-1G>A
c.1589-1G>A (n.1589-1G>A)
c.1391-1G>A
c.1430-1G>A (n.1430-1G>A)
c.1268-1G>A
c.1586G>A
c.1334-1G>A (n.1334-1G>A)
n.2425-1G>A
c.1067-1G>A
c.867-1G>A
c.1334-1G>A
c.1592-1G>A (n.1592-1G>A)
n.1380-1G>A
c.1188-1G>A
c.1617-1G>A (n.1617-1G>A)
c.1521-1G>A (n.1521-1G>A)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.32147217G>CCA346504302SPASTc.*1348-1G>C (n.*1348-1G>C)
c.1688-1G>C (n.1688-1G>C)
c.1685-1G>C (n.1685-1G>C)
c.1425-1G>C
c.1589-1G>C (n.1589-1G>C)
c.1391-1G>C
c.1430-1G>C (n.1430-1G>C)
c.1268-1G>C
c.1586G>C
c.1334-1G>C (n.1334-1G>C)
n.2425-1G>C
c.1067-1G>C
c.867-1G>C
c.1334-1G>C
c.1592-1G>C (n.1592-1G>C)
n.1380-1G>C
c.1188-1G>C
c.1617-1G>C (n.1617-1G>C)
c.1521-1G>C (n.1521-1G>C)
 ClinVar dbSNP
2g.32147217G=CA1242506972SPASTc.*1348-1G= (n.*1348-1G=)
c.1688-1G= (n.1688-1G=)
c.1685-1G= (n.1685-1G=)
c.1425-1G=
c.1589-1G= (n.1589-1G=)
c.1391-1G=
c.1430-1G= (n.1430-1G=)
c.1268-1G=
c.1586G=
c.1334-1G= (n.1334-1G=)
n.2425-1G=
c.1067-1G=
c.867-1G=
c.1334-1G=
c.1592-1G= (n.1592-1G=)
n.1380-1G=
c.1188-1G=
c.1617-1G= (n.1617-1G=)
c.1521-1G= (n.1521-1G=)
2g.32147217G>TCA346504303SPASTc.*1348-1G>T (n.*1348-1G>T)
c.1688-1G>T (n.1688-1G>T)
c.1685-1G>T (n.1685-1G>T)
c.1425-1G>T
c.1589-1G>T (n.1589-1G>T)
c.1391-1G>T
c.1430-1G>T (n.1430-1G>T)
c.1268-1G>T
c.1586G>T
c.1334-1G>T (n.1334-1G>T)
n.2425-1G>T
c.1067-1G>T
c.867-1G>T
c.1334-1G>T
c.1592-1G>T (n.1592-1G>T)
n.1380-1G>T
c.1188-1G>T
c.1617-1G>T (n.1617-1G>T)
c.1521-1G>T (n.1521-1G>T)
2g.32147218A>CCA346504304SPASTc.*1348A>C (n.*1348A>C)
c.1688A>C (p.Glu563Ala)
c.1685A>C (p.Glu562Ala)
c.1425A>C
c.1589A>C (p.Glu530Ala)
c.1391A>C
c.1430A>C (p.Glu477Ala)
c.1268A>C
c.1587A>C
c.1334A>C (p.Glu445Ala)
n.2425A>C
c.1067A>C
c.867A>C
c.1334A>C
c.1592A>C (p.Glu531Ala)
n.1380A>C
c.1188A>C
c.1617A>C (p.Arg539Ser)
c.1521A>C (p.Arg507Ser)
2g.32147218A>GCA346504305SPASTc.*1348A>G (n.*1348A>G)
c.1688A>G (p.Glu563Gly)
c.1685A>G (p.Glu562Gly)
c.1425A>G
c.1589A>G (p.Glu530Gly)
c.1391A>G
c.1430A>G (p.Glu477Gly)
c.1268A>G
c.1587A>G
c.1334A>G (p.Glu445Gly)
n.2425A>G
c.1067A>G
c.867A>G
c.1334A>G
c.1592A>G (p.Glu531Gly)
n.1380A>G
c.1188A>G
c.1617A>G (p.Arg539=)
c.1521A>G (p.Arg507=)
2g.32147218A>TCA346504306SPASTc.*1348A>T (n.*1348A>T)
c.1688A>T (p.Glu563Val)
c.1685A>T (p.Glu562Val)
c.1425A>T
c.1589A>T (p.Glu530Val)
c.1391A>T
c.1430A>T (p.Glu477Val)
c.1268A>T
c.1587A>T
c.1334A>T (p.Glu445Val)
n.2425A>T
c.1067A>T
c.867A>T
c.1334A>T
c.1592A>T (p.Glu531Val)
n.1380A>T
c.1188A>T
c.1617A>T (p.Arg539Ser)
c.1521A>T (p.Arg507Ser)
2g.32147219delCA2739292151SPASTc.*1349del (n.*1349del)
c.1689del (p.Glu563AspfsTer2)
c.1686del (p.Glu562AspfsTer2)
c.1426del
c.1590del (p.Glu530AspfsTer2)
c.1392del
c.1431del (p.Glu477AspfsTer2)
c.1269del
c.1588del
c.1335del (p.Glu445AspfsTer2)
n.2426del
c.1068del
c.868del
c.1335del
c.1593del (p.Glu531AspfsTer2)
n.1381del
c.1189del
c.1618del (p.Thr540LeufsTer?)
c.1522del (p.Thr508LeufsTer?)
2g.32147219_32147228delCA2586969006SPASTc.*1349_*1358del (n.*1349_*1358del)
c.1689_1698del (p.Leu564AsnfsTer3)
c.1686_1695del (p.Leu563AsnfsTer3)
c.1426_1435del
c.1590_1599del (p.Leu531AsnfsTer3)
c.1392_1401del
c.1431_1440del (p.Leu478AsnfsTer3)
c.1269_1278del
c.1588_1597del
c.1335_1344del (p.Leu446AsnfsTer3)
n.2426_2435del
c.1068_1077del
c.868_877del
c.1335_1344del
c.1593_1602del (p.Leu532AsnfsTer3)
n.1381_1390del
c.1189_1198del
c.1618_1627del (p.Thr540GlufsTer?)
c.1522_1531del (p.Thr508GlufsTer?)
 gnomAD v4
2g.32147219A=CA1242506973SPASTc.*1349A= (n.*1349A=)
c.1689A= (p.Glu563=)
c.1686A= (p.Glu562=)
c.1426A=
c.1590A= (p.Glu530=)
c.1392A=
c.1431A= (p.Glu477=)
c.1269A=
c.1588A=
c.1335A= (p.Glu445=)
n.2426A=
c.1068A=
c.868A=
c.1335A=
c.1593A= (p.Glu531=)
n.1381A=
c.1189A=
c.1618A= (p.Thr540=)
c.1522A= (p.Thr508=)
2g.32147219A>CCA346504307SPASTc.*1349A>C (n.*1349A>C)
c.1689A>C (p.Glu563Asp)
c.1686A>C (p.Glu562Asp)
c.1426A>C
c.1590A>C (p.Glu530Asp)
c.1392A>C
c.1431A>C (p.Glu477Asp)
c.1269A>C
c.1588A>C
c.1335A>C (p.Glu445Asp)
n.2426A>C
c.1068A>C
c.868A>C
c.1335A>C
c.1593A>C (p.Glu531Asp)
n.1381A>C
c.1189A>C
c.1618A>C (p.Thr540Pro)
c.1522A>C (p.Thr508Pro)
 dbSNP
2g.32147219A>GCA425456073SPASTc.*1349A>G (n.*1349A>G)
c.1689A>G (p.Glu563=)
c.1686A>G (p.Glu562=)
c.1426A>G
c.1590A>G (p.Glu530=)
c.1392A>G
c.1431A>G (p.Glu477=)
c.1269A>G
c.1588A>G
c.1335A>G (p.Glu445=)
n.2426A>G
c.1068A>G
c.868A>G
c.1335A>G
c.1593A>G (p.Glu531=)
n.1381A>G
c.1189A>G
c.1618A>G (p.Thr540Ala)
c.1522A>G (p.Thr508Ala)
2g.32147219A>TCA346504308SPASTc.*1349A>T (n.*1349A>T)
c.1689A>T (p.Glu563Asp)
c.1686A>T (p.Glu562Asp)
c.1426A>T
c.1590A>T (p.Glu530Asp)
c.1392A>T
c.1431A>T (p.Glu477Asp)
c.1269A>T
c.1588A>T
c.1335A>T (p.Glu445Asp)
n.2426A>T
c.1068A>T
c.868A>T
c.1335A>T
c.1593A>T (p.Glu531Asp)
n.1381A>T
c.1189A>T
c.1618A>T (p.Thr540Ser)
c.1522A>T (p.Thr508Ser)
2g.32147219_32147220insACTAAAACCCA2573051940SPASTc.*1349_*1350insACTAAAACC (n.*1349_*1350insACTAAAACC)
c.1689_1690insACTAAAACC (p.Glu563_Leu564insThrLysThr)
c.1686_1687insACTAAAACC (p.Glu562_Leu563insThrLysThr)
c.1426_1427insACTAAAACC
c.1590_1591insACTAAAACC (p.Glu530_Leu531insThrLysThr)
c.1392_1393insACTAAAACC
c.1431_1432insACTAAAACC (p.Glu477_Leu478insThrLysThr)
c.1269_1270insACTAAAACC
c.1588_1589insACTAAAACC
c.1335_1336insACTAAAACC (p.Glu445_Leu446insThrLysThr)
n.2426_2427insACTAAAACC
c.1068_1069insACTAAAACC
c.868_869insACTAAAACC
c.1335_1336insACTAAAACC
c.1593_1594insACTAAAACC (p.Glu531_Leu532insThrLysThr)
n.1381_1382insACTAAAACC
c.1189_1190insACTAAAACC
c.1618_1619insACTAAAACC (p.Thr540AsnfsTer2)
c.1522_1523insACTAAAACC (p.Thr508AsnfsTer2)
 ClinVar dbSNP
2g.32147220C>ACA346504309SPASTc.*1350C>A (n.*1350C>A)
c.1690C>A (p.Leu564Ile)
c.1687C>A (p.Leu563Ile)
c.1427C>A
c.1591C>A (p.Leu531Ile)
c.1393C>A
c.1432C>A (p.Leu478Ile)
c.1270C>A
c.1589C>A
c.1336C>A (p.Leu446Ile)
n.2427C>A
c.1069C>A
c.869C>A
c.1336C>A
c.1594C>A (p.Leu532Ile)
n.1382C>A
c.1190C>A
c.1619C>A (p.Thr540Asn)
c.1523C>A (p.Thr508Asn)
 gnomAD v4
2g.32147220C=CA1242506974SPASTc.*1350C= (n.*1350C=)
c.1690C= (p.Leu564=)
c.1687C= (p.Leu563=)
c.1427C=
c.1591C= (p.Leu531=)
c.1393C=
c.1432C= (p.Leu478=)
c.1270C=
c.1589C=
c.1336C= (p.Leu446=)
n.2427C=
c.1069C=
c.869C=
c.1336C=
c.1594C= (p.Leu532=)
n.1382C=
c.1190C=
c.1619C= (p.Thr540=)
c.1523C= (p.Thr508=)
2g.32147220C>GCA346504310SPASTc.*1350C>G (n.*1350C>G)
c.1690C>G (p.Leu564Val)
c.1687C>G (p.Leu563Val)
c.1427C>G
c.1591C>G (p.Leu531Val)
c.1393C>G
c.1432C>G (p.Leu478Val)
c.1270C>G
c.1589C>G
c.1336C>G (p.Leu446Val)
n.2427C>G
c.1069C>G
c.869C>G
c.1336C>G
c.1594C>G (p.Leu532Val)
n.1382C>G
c.1190C>G
c.1619C>G (p.Thr540Ser)
c.1523C>G (p.Thr508Ser)
2g.32147220C>TCA1600990SPASTc.*1350C>T (n.*1350C>T)
c.1690C>T (p.Leu564=)
c.1687C>T (p.Leu563=)
c.1427C>T
c.1591C>T (p.Leu531=)
c.1393C>T
c.1432C>T (p.Leu478=)
c.1270C>T
c.1589C>T
c.1336C>T (p.Leu446=)
n.2427C>T
c.1069C>T
c.869C>T
c.1336C>T
c.1594C>T (p.Leu532=)
n.1382C>T
c.1190C>T
c.1619C>T (p.Thr540Ile)
c.1523C>T (p.Thr508Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32147221delCA923726248SPASTc.*1351del (n.*1351del)
c.1691del (p.Leu564GlnfsTer6)
c.1688del (p.Leu563GlnfsTer6)
c.1428del
c.1592del (p.Leu531GlnfsTer6)
c.1394del
c.1433del (p.Leu478GlnfsTer6)
c.1271del
c.1590del
c.1337del (p.Leu446GlnfsTer6)
n.2428del
c.1070del
c.870del
c.1337del
c.1595del (p.Leu532GlnfsTer6)
n.1383del
c.1191del
c.1620del (p.Thr542ProfsTer?)
c.1524del (p.Thr510ProfsTer?)
 ClinVar dbSNP gnomAD v4
2g.32147221T>ACA346504311SPASTc.*1351T>A (n.*1351T>A)
c.1691T>A (p.Leu564Gln)
c.1688T>A (p.Leu563Gln)
c.1428T>A
c.1592T>A (p.Leu531Gln)
c.1394T>A
c.1433T>A (p.Leu478Gln)
c.1271T>A
c.1590T>A
c.1337T>A (p.Leu446Gln)
n.2428T>A
c.1070T>A
c.870T>A
c.1337T>A
c.1595T>A (p.Leu532Gln)
n.1383T>A
c.1191T>A
c.1620T>A (p.Thr540=)
c.1524T>A (p.Thr508=)
2g.32147221T>CCA346504312SPASTc.*1351T>C (n.*1351T>C)
c.1691T>C (p.Leu564Pro)
c.1688T>C (p.Leu563Pro)
c.1428T>C
c.1592T>C (p.Leu531Pro)
c.1394T>C
c.1433T>C (p.Leu478Pro)
c.1271T>C
c.1590T>C
c.1337T>C (p.Leu446Pro)
n.2428T>C
c.1070T>C
c.870T>C
c.1337T>C
c.1595T>C (p.Leu532Pro)
n.1383T>C
c.1191T>C
c.1620T>C (p.Thr540=)
c.1524T>C (p.Thr508=)
2g.32147221T>GCA346504313SPASTc.*1351T>G (n.*1351T>G)
c.1691T>G (p.Leu564Arg)
c.1688T>G (p.Leu563Arg)
c.1428T>G
c.1592T>G (p.Leu531Arg)
c.1394T>G
c.1433T>G (p.Leu478Arg)
c.1271T>G
c.1590T>G
c.1337T>G (p.Leu446Arg)
n.2428T>G
c.1070T>G
c.870T>G
c.1337T>G
c.1595T>G (p.Leu532Arg)
n.1383T>G
c.1191T>G
c.1620T>G (p.Thr540=)
c.1524T>G (p.Thr508=)
2g.32147222A>CCA425456104SPASTc.*1352A>C (n.*1352A>C)
c.1692A>C (p.Leu564=)
c.1689A>C (p.Leu563=)
c.1429A>C
c.1593A>C (p.Leu531=)
c.1395A>C
c.1434A>C (p.Leu478=)
c.1272A>C
c.1591A>C
c.1338A>C (p.Leu446=)
n.2429A>C
c.1071A>C
c.871A>C
c.1338A>C
c.1596A>C (p.Leu532=)
n.1384A>C
c.1192A>C
c.1621A>C (p.Lys541Gln)
c.1525A>C (p.Lys509Gln)
2g.32147222A>GCA425456119SPASTc.*1352A>G (n.*1352A>G)
c.1692A>G (p.Leu564=)
c.1689A>G (p.Leu563=)
c.1429A>G
c.1593A>G (p.Leu531=)
c.1395A>G
c.1434A>G (p.Leu478=)
c.1272A>G
c.1591A>G
c.1338A>G (p.Leu446=)
n.2429A>G
c.1071A>G
c.871A>G
c.1338A>G
c.1596A>G (p.Leu532=)
n.1384A>G
c.1192A>G
c.1621A>G (p.Lys541Glu)
c.1525A>G (p.Lys509Glu)
2g.32147222A>TCA425456124SPASTc.*1352A>T (n.*1352A>T)
c.1692A>T (p.Leu564=)
c.1689A>T (p.Leu563=)
c.1429A>T
c.1593A>T (p.Leu531=)
c.1395A>T
c.1434A>T (p.Leu478=)
c.1272A>T
c.1591A>T
c.1338A>T (p.Leu446=)
n.2429A>T
c.1071A>T
c.871A>T
c.1338A>T
c.1596A>T (p.Leu532=)
n.1384A>T
c.1192A>T
c.1621A>T (p.Lys541Ter)
c.1525A>T (p.Lys509Ter)
2g.32147223A>CCA346504314SPASTc.*1353A>C (n.*1353A>C)
c.1693A>C (p.Lys565Gln)
c.1690A>C (p.Lys564Gln)
c.1430A>C
c.1594A>C (p.Lys532Gln)
c.1396A>C
c.1435A>C (p.Lys479Gln)
c.1273A>C
c.1592A>C
c.1339A>C (p.Lys447Gln)
n.2430A>C
c.1072A>C
c.872A>C
c.1339A>C
c.1597A>C (p.Lys533Gln)
n.1385A>C
c.1193A>C
c.1622A>C (p.Lys541Thr)
c.1526A>C (p.Lys509Thr)
2g.32147223A>GCA346504315SPASTc.*1353A>G (n.*1353A>G)
c.1693A>G (p.Lys565Glu)
c.1690A>G (p.Lys564Glu)
c.1430A>G
c.1594A>G (p.Lys532Glu)
c.1396A>G
c.1435A>G (p.Lys479Glu)
c.1273A>G
c.1592A>G
c.1339A>G (p.Lys447Glu)
n.2430A>G
c.1072A>G
c.872A>G
c.1339A>G
c.1597A>G (p.Lys533Glu)
n.1385A>G
c.1193A>G
c.1622A>G (p.Lys541Arg)
c.1526A>G (p.Lys509Arg)
2g.32147223A>TCA346504316SPASTc.*1353A>T (n.*1353A>T)
c.1693A>T (p.Lys565Ter)
c.1690A>T (p.Lys564Ter)
c.1430A>T
c.1594A>T (p.Lys532Ter)
c.1396A>T
c.1435A>T (p.Lys479Ter)
c.1273A>T
c.1592A>T
c.1339A>T (p.Lys447Ter)
n.2430A>T
c.1072A>T
c.872A>T
c.1339A>T
c.1597A>T (p.Lys533Ter)
n.1385A>T
c.1193A>T
c.1622A>T (p.Lys541Ile)
c.1526A>T (p.Lys509Ile)
2g.32147224A>CCA346504317SPASTc.*1354A>C (n.*1354A>C)
c.1694A>C (p.Lys565Thr)
c.1691A>C (p.Lys564Thr)
c.1431A>C
c.1595A>C (p.Lys532Thr)
c.1397A>C
c.1436A>C (p.Lys479Thr)
c.1274A>C
c.1593A>C
c.1340A>C (p.Lys447Thr)
n.2431A>C
c.1073A>C
c.873A>C
c.1340A>C
c.1598A>C (p.Lys533Thr)
n.1386A>C
c.1194A>C
c.1623A>C (p.Lys541Asn)
c.1527A>C (p.Lys509Asn)
 gnomAD v4
2g.32147224A>GCA346504318SPASTc.*1354A>G (n.*1354A>G)
c.1694A>G (p.Lys565Arg)
c.1691A>G (p.Lys564Arg)
c.1431A>G
c.1595A>G (p.Lys532Arg)
c.1397A>G
c.1436A>G (p.Lys479Arg)
c.1274A>G
c.1593A>G
c.1340A>G (p.Lys447Arg)
n.2431A>G
c.1073A>G
c.873A>G
c.1340A>G
c.1598A>G (p.Lys533Arg)
n.1386A>G
c.1194A>G
c.1623A>G (p.Lys541=)
c.1527A>G (p.Lys509=)
2g.32147224A>TCA346504319SPASTc.*1354A>T (n.*1354A>T)
c.1694A>T (p.Lys565Ile)
c.1691A>T (p.Lys564Ile)
c.1431A>T
c.1595A>T (p.Lys532Ile)
c.1397A>T
c.1436A>T (p.Lys479Ile)
c.1274A>T
c.1593A>T
c.1340A>T (p.Lys447Ile)
n.2431A>T
c.1073A>T
c.873A>T
c.1340A>T
c.1598A>T (p.Lys533Ile)
n.1386A>T
c.1194A>T
c.1623A>T (p.Lys541Asn)
c.1527A>T (p.Lys509Asn)
2g.32147225A=CA1242506975SPASTc.*1355A= (n.*1355A=)
c.1695A= (p.Lys565=)
c.1692A= (p.Lys564=)
c.1432A=
c.1596A= (p.Lys532=)
c.1398A=
c.1437A= (p.Lys479=)
c.1275A=
c.1594A=
c.1341A= (p.Lys447=)
n.2432A=
c.1074A=
c.874A=
c.1341A=
c.1599A= (p.Lys533=)
n.1387A=
c.1195A=
c.1624A= (p.Thr542=)
c.1528A= (p.Thr510=)
2g.32147225A>CCA346504321SPASTc.*1355A>C (n.*1355A>C)
c.1695A>C (p.Lys565Asn)
c.1692A>C (p.Lys564Asn)
c.1432A>C
c.1596A>C (p.Lys532Asn)
c.1398A>C
c.1437A>C (p.Lys479Asn)
c.1275A>C
c.1594A>C
c.1341A>C (p.Lys447Asn)
n.2432A>C
c.1074A>C
c.874A>C
c.1341A>C
c.1599A>C (p.Lys533Asn)
n.1387A>C
c.1195A>C
c.1624A>C (p.Thr542Pro)
c.1528A>C (p.Thr510Pro)
2g.32147225A>GCA425456146SPASTc.*1355A>G (n.*1355A>G)
c.1695A>G (p.Lys565=)
c.1692A>G (p.Lys564=)
c.1432A>G
c.1596A>G (p.Lys532=)
c.1398A>G
c.1437A>G (p.Lys479=)
c.1275A>G
c.1594A>G
c.1341A>G (p.Lys447=)
n.2432A>G
c.1074A>G
c.874A>G
c.1341A>G
c.1599A>G (p.Lys533=)
n.1387A>G
c.1195A>G
c.1624A>G (p.Thr542Ala)
c.1528A>G (p.Thr510Ala)
2g.32147225A>TCA346504320SPASTc.*1355A>T (n.*1355A>T)
c.1695A>T (p.Lys565Asn)
c.1692A>T (p.Lys564Asn)
c.1432A>T
c.1596A>T (p.Lys532Asn)
c.1398A>T
c.1437A>T (p.Lys479Asn)
c.1275A>T
c.1594A>T
c.1341A>T (p.Lys447Asn)
n.2432A>T
c.1074A>T
c.874A>T
c.1341A>T
c.1599A>T (p.Lys533Asn)
n.1387A>T
c.1195A>T
c.1624A>T (p.Thr542Ser)
c.1528A>T (p.Thr510Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.32147226C>ACA346504322SPASTc.*1356C>A (n.*1356C>A)
c.1696C>A (p.Pro566Thr)
c.1693C>A (p.Pro565Thr)
c.1433C>A
c.1597C>A (p.Pro533Thr)
c.1399C>A
c.1438C>A (p.Pro480Thr)
c.1276C>A
c.1595C>A
c.1342C>A (p.Pro448Thr)
n.2433C>A
c.1075C>A
c.875C>A
c.1342C>A
c.1600C>A (p.Pro534Thr)
n.1388C>A
c.1196C>A
c.1625C>A (p.Thr542Asn)
c.1529C>A (p.Thr510Asn)
2g.32147226C>GCA346504324SPASTc.*1356C>G (n.*1356C>G)
c.1696C>G (p.Pro566Ala)
c.1693C>G (p.Pro565Ala)
c.1433C>G
c.1597C>G (p.Pro533Ala)
c.1399C>G
c.1438C>G (p.Pro480Ala)
c.1276C>G
c.1595C>G
c.1342C>G (p.Pro448Ala)
n.2433C>G
c.1075C>G
c.875C>G
c.1342C>G
c.1600C>G (p.Pro534Ala)
n.1388C>G
c.1196C>G
c.1625C>G (p.Thr542Ser)
c.1529C>G (p.Thr510Ser)
2g.32147226C>TCA346504323SPASTc.*1356C>T (n.*1356C>T)
c.1696C>T (p.Pro566Ser)
c.1693C>T (p.Pro565Ser)
c.1433C>T
c.1597C>T (p.Pro533Ser)
c.1399C>T
c.1438C>T (p.Pro480Ser)
c.1276C>T
c.1595C>T
c.1342C>T (p.Pro448Ser)
n.2433C>T
c.1075C>T
c.875C>T
c.1342C>T
c.1600C>T (p.Pro534Ser)
n.1388C>T
c.1196C>T
c.1625C>T (p.Thr542Ile)
c.1529C>T (p.Thr510Ile)
2g.32147227C>ACA346504325SPASTc.*1357C>A (n.*1357C>A)
c.1697C>A (p.Pro566Gln)
c.1694C>A (p.Pro565Gln)
c.1434C>A
c.1598C>A (p.Pro533Gln)
c.1400C>A
c.1439C>A (p.Pro480Gln)
c.1277C>A
c.1596C>A
c.1343C>A (p.Pro448Gln)
n.2434C>A
c.1076C>A
c.876C>A
c.1343C>A
c.1601C>A (p.Pro534Gln)
n.1389C>A
c.1197C>A
c.1626C>A (p.Thr542=)
c.1530C>A (p.Thr510=)
2g.32147227C>GCA346504327SPASTc.*1357C>G (n.*1357C>G)
c.1697C>G (p.Pro566Arg)
c.1694C>G (p.Pro565Arg)
c.1434C>G
c.1598C>G (p.Pro533Arg)
c.1400C>G
c.1439C>G (p.Pro480Arg)
c.1277C>G
c.1596C>G
c.1343C>G (p.Pro448Arg)
n.2434C>G
c.1076C>G
c.876C>G
c.1343C>G
c.1601C>G (p.Pro534Arg)
n.1389C>G
c.1197C>G
c.1626C>G (p.Thr542=)
c.1530C>G (p.Thr510=)
2g.32147227C>TCA346504326SPASTc.*1357C>T (n.*1357C>T)
c.1697C>T (p.Pro566Leu)
c.1694C>T (p.Pro565Leu)
c.1434C>T
c.1598C>T (p.Pro533Leu)
c.1400C>T
c.1439C>T (p.Pro480Leu)
c.1277C>T
c.1596C>T
c.1343C>T (p.Pro448Leu)
n.2434C>T
c.1076C>T
c.876C>T
c.1343C>T
c.1601C>T (p.Pro534Leu)
n.1389C>T
c.1197C>T
c.1626C>T (p.Thr542=)
c.1530C>T (p.Thr510=)
 gnomAD v4
2g.32147227_32147238delinsCAGAACAGGTGACA1242506976SPASTc.*1357_*1368delinsCAGAACAGGTGA (n.*1357_*1368delinsCAGAACAGGTGA)
c.1697_1708delinsCAGAACAGGTGA (p.Pro566=)
c.1694_1705delinsCAGAACAGGTGA (p.Pro565=)
c.1434_1445delinsCAGAACAGGTGA
c.1598_1609delinsCAGAACAGGTGA (p.Pro533=)
c.1400_1411delinsCAGAACAGGTGA
c.1439_1450delinsCAGAACAGGTGA (p.Pro480=)
c.1277_1288delinsCAGAACAGGTGA
c.1596_1607delinsCAGAACAGGTGA
c.1343_1354delinsCAGAACAGGTGA (p.Pro448=)
n.2434_2445delinsCAGAACAGGTGA
c.1076_1087delinsCAGAACAGGTGA
c.876_887delinsCAGAACAGGTGA
c.1343_1354delinsCAGAACAGGTGA
c.1601_1612delinsCAGAACAGGTGA (p.Pro534=)
n.1389_1400delinsCAGAACAGGTGA
c.1197_1208delinsCAGAACAGGTGA
c.1626_1637delinsCAGAACAGGTGA (p.Thr542=)
c.1530_1541delinsCAGAACAGGTGA (p.Thr510=)
2g.32147228A=CA1242506977SPASTc.*1358A= (n.*1358A=)
c.1698A= (p.Pro566=)
c.1695A= (p.Pro565=)
c.1435A=
c.1599A= (p.Pro533=)
c.1401A=
c.1440A= (p.Pro480=)
c.1278A=
c.1597A=
c.1344A= (p.Pro448=)
n.2435A=
c.1077A=
c.877A=
c.1344A=
c.1602A= (p.Pro534=)
n.1390A=
c.1198A=
c.1627A= (p.Arg543=)
c.1531A= (p.Arg511=)
2g.32147228A>CCA425456175SPASTc.*1358A>C (n.*1358A>C)
c.1698A>C (p.Pro566=)
c.1695A>C (p.Pro565=)
c.1435A>C
c.1599A>C (p.Pro533=)
c.1401A>C
c.1440A>C (p.Pro480=)
c.1278A>C
c.1597A>C
c.1344A>C (p.Pro448=)
n.2435A>C
c.1077A>C
c.877A>C
c.1344A>C
c.1602A>C (p.Pro534=)
n.1390A>C
c.1198A>C
c.1627A>C (p.Arg543=)
c.1531A>C (p.Arg511=)

Number of alleles fetched