Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.89348106_89348109delinsAAGCCA1862787992SECISBP2c.1630_1633delinsAAGC (p.Lys544=)
c.1411_1414delinsAAGC (p.Lys471=)
c.1426_1429delinsAAGC (p.Lys476=)
c.1627_1630delinsAAGC (p.Lys543=)
c.1513_1516delinsAAGC (p.Lys505=)
c.733_736delinsAAGC (p.Lys245=)
c.1336_1339delinsAAGC (p.Lys446=)
c.1312_1315delinsAAGC (p.Lys438=)
c.1309_1312delinsAAGC (p.Lys437=)
n.1788_1791delinsAAGC
c.1516_1519delinsAAGC (p.Lys506=)
c.1423_1426delinsAAGC (p.Lys475=)
c.745_748delinsAAGC (p.Lys249=)
c.1540_1543delinsAAGC (p.Lys514=)
c.1294_1297delinsAAGC (p.Lys432=)
9g.89348107A=CA1862787993SECISBP2c.1631A= (p.Lys544=)
c.1412A= (p.Lys471=)
c.1427A= (p.Lys476=)
c.1628A= (p.Lys543=)
c.1514A= (p.Lys505=)
c.734A= (p.Lys245=)
c.1337A= (p.Lys446=)
c.1313A= (p.Lys438=)
c.1310A= (p.Lys437=)
n.1789A=
c.1517A= (p.Lys506=)
c.1424A= (p.Lys475=)
c.746A= (p.Lys249=)
c.1541A= (p.Lys514=)
c.1295A= (p.Lys432=)
9g.89348107A>CCA373989118SECISBP2c.1631A>C (p.Lys544Thr)
c.1412A>C (p.Lys471Thr)
c.1427A>C (p.Lys476Thr)
c.1628A>C (p.Lys543Thr)
c.1514A>C (p.Lys505Thr)
c.734A>C (p.Lys245Thr)
c.1337A>C (p.Lys446Thr)
c.1313A>C (p.Lys438Thr)
c.1310A>C (p.Lys437Thr)
n.1789A>C
c.1517A>C (p.Lys506Thr)
c.1424A>C (p.Lys475Thr)
c.746A>C (p.Lys249Thr)
c.1541A>C (p.Lys514Thr)
c.1295A>C (p.Lys432Thr)
9g.89348107A>GCA373989119SECISBP2c.1631A>G (p.Lys544Arg)
c.1412A>G (p.Lys471Arg)
c.1427A>G (p.Lys476Arg)
c.1628A>G (p.Lys543Arg)
c.1514A>G (p.Lys505Arg)
c.734A>G (p.Lys245Arg)
c.1337A>G (p.Lys446Arg)
c.1313A>G (p.Lys438Arg)
c.1310A>G (p.Lys437Arg)
n.1789A>G
c.1517A>G (p.Lys506Arg)
c.1424A>G (p.Lys475Arg)
c.746A>G (p.Lys249Arg)
c.1541A>G (p.Lys514Arg)
c.1295A>G (p.Lys432Arg)
 dbSNP gnomAD v2 gnomAD v4
9g.89348107A>TCA373989120SECISBP2c.1631A>T (p.Lys544Met)
c.1412A>T (p.Lys471Met)
c.1427A>T (p.Lys476Met)
c.1628A>T (p.Lys543Met)
c.1514A>T (p.Lys505Met)
c.734A>T (p.Lys245Met)
c.1337A>T (p.Lys446Met)
c.1313A>T (p.Lys438Met)
c.1310A>T (p.Lys437Met)
n.1789A>T
c.1517A>T (p.Lys506Met)
c.1424A>T (p.Lys475Met)
c.746A>T (p.Lys249Met)
c.1541A>T (p.Lys514Met)
c.1295A>T (p.Lys432Met)
9g.89348110_89348112delCA589141142SECISBP2c.1634_1636del (p.Gln545del)
c.1415_1417del (p.Gln472del)
c.1430_1432del (p.Gln477del)
c.1631_1633del (p.Gln544del)
c.1517_1519del (p.Gln506del)
c.737_739del (p.Gln246del)
c.1340_1342del (p.Gln447del)
c.1316_1318del (p.Gln439del)
c.1313_1315del (p.Gln438del)
n.1792_1794del
c.1520_1522del (p.Gln507del)
c.1427_1429del (p.Gln476del)
c.749_751del (p.Gln250del)
c.1544_1546del (p.Gln515del)
c.1298_1300del (p.Gln433del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.89348108G>ACA465790505SECISBP2c.1632G>A (p.Lys544=)
c.1413G>A (p.Lys471=)
c.1428G>A (p.Lys476=)
c.1629G>A (p.Lys543=)
c.1515G>A (p.Lys505=)
c.735G>A (p.Lys245=)
c.1338G>A (p.Lys446=)
c.1314G>A (p.Lys438=)
c.1311G>A (p.Lys437=)
n.1790G>A
c.1518G>A (p.Lys506=)
c.1425G>A (p.Lys475=)
c.747G>A (p.Lys249=)
c.1542G>A (p.Lys514=)
c.1296G>A (p.Lys432=)
9g.89348108G>CCA373989121SECISBP2c.1632G>C (p.Lys544Asn)
c.1413G>C (p.Lys471Asn)
c.1428G>C (p.Lys476Asn)
c.1629G>C (p.Lys543Asn)
c.1515G>C (p.Lys505Asn)
c.735G>C (p.Lys245Asn)
c.1338G>C (p.Lys446Asn)
c.1314G>C (p.Lys438Asn)
c.1311G>C (p.Lys437Asn)
n.1790G>C
c.1518G>C (p.Lys506Asn)
c.1425G>C (p.Lys475Asn)
c.747G>C (p.Lys249Asn)
c.1542G>C (p.Lys514Asn)
c.1296G>C (p.Lys432Asn)
9g.89348108G>TCA373989122SECISBP2c.1632G>T (p.Lys544Asn)
c.1413G>T (p.Lys471Asn)
c.1428G>T (p.Lys476Asn)
c.1629G>T (p.Lys543Asn)
c.1515G>T (p.Lys505Asn)
c.735G>T (p.Lys245Asn)
c.1338G>T (p.Lys446Asn)
c.1314G>T (p.Lys438Asn)
c.1311G>T (p.Lys437Asn)
n.1790G>T
c.1518G>T (p.Lys506Asn)
c.1425G>T (p.Lys475Asn)
c.747G>T (p.Lys249Asn)
c.1542G>T (p.Lys514Asn)
c.1296G>T (p.Lys432Asn)
9g.89348109C>ACA373989125SECISBP2c.1633C>A (p.Gln545Lys)
c.1414C>A (p.Gln472Lys)
c.1429C>A (p.Gln477Lys)
c.1630C>A (p.Gln544Lys)
c.1516C>A (p.Gln506Lys)
c.736C>A (p.Gln246Lys)
c.1339C>A (p.Gln447Lys)
c.1315C>A (p.Gln439Lys)
c.1312C>A (p.Gln438Lys)
n.1791C>A
c.1519C>A (p.Gln507Lys)
c.1426C>A (p.Gln476Lys)
c.748C>A (p.Gln250Lys)
c.1543C>A (p.Gln515Lys)
c.1297C>A (p.Gln433Lys)
9g.89348109C>GCA373989124SECISBP2c.1633C>G (p.Gln545Glu)
c.1414C>G (p.Gln472Glu)
c.1429C>G (p.Gln477Glu)
c.1630C>G (p.Gln544Glu)
c.1516C>G (p.Gln506Glu)
c.736C>G (p.Gln246Glu)
c.1339C>G (p.Gln447Glu)
c.1315C>G (p.Gln439Glu)
c.1312C>G (p.Gln438Glu)
n.1791C>G
c.1519C>G (p.Gln507Glu)
c.1426C>G (p.Gln476Glu)
c.748C>G (p.Gln250Glu)
c.1543C>G (p.Gln515Glu)
c.1297C>G (p.Gln433Glu)
9g.89348109C>TCA373989123SECISBP2c.1633C>T (p.Gln545Ter)
c.1414C>T (p.Gln472Ter)
c.1429C>T (p.Gln477Ter)
c.1630C>T (p.Gln544Ter)
c.1516C>T (p.Gln506Ter)
c.736C>T (p.Gln246Ter)
c.1339C>T (p.Gln447Ter)
c.1315C>T (p.Gln439Ter)
c.1312C>T (p.Gln438Ter)
n.1791C>T
c.1519C>T (p.Gln507Ter)
c.1426C>T (p.Gln476Ter)
c.748C>T (p.Gln250Ter)
c.1543C>T (p.Gln515Ter)
c.1297C>T (p.Gln433Ter)
9g.89348110A=CA1862787994SECISBP2c.1634A= (p.Gln545=)
c.1415A= (p.Gln472=)
c.1430A= (p.Gln477=)
c.1631A= (p.Gln544=)
c.1517A= (p.Gln506=)
c.737A= (p.Gln246=)
c.1340A= (p.Gln447=)
c.1316A= (p.Gln439=)
c.1313A= (p.Gln438=)
n.1792A=
c.1520A= (p.Gln507=)
c.1427A= (p.Gln476=)
c.749A= (p.Gln250=)
c.1544A= (p.Gln515=)
c.1298A= (p.Gln433=)
9g.89348110A>CCA373989126SECISBP2c.1634A>C (p.Gln545Pro)
c.1415A>C (p.Gln472Pro)
c.1430A>C (p.Gln477Pro)
c.1631A>C (p.Gln544Pro)
c.1517A>C (p.Gln506Pro)
c.737A>C (p.Gln246Pro)
c.1340A>C (p.Gln447Pro)
c.1316A>C (p.Gln439Pro)
c.1313A>C (p.Gln438Pro)
n.1792A>C
c.1520A>C (p.Gln507Pro)
c.1427A>C (p.Gln476Pro)
c.749A>C (p.Gln250Pro)
c.1544A>C (p.Gln515Pro)
c.1298A>C (p.Gln433Pro)
9g.89348110A>GCA5117519SECISBP2c.1634A>G (p.Gln545Arg)
c.1415A>G (p.Gln472Arg)
c.1430A>G (p.Gln477Arg)
c.1631A>G (p.Gln544Arg)
c.1517A>G (p.Gln506Arg)
c.737A>G (p.Gln246Arg)
c.1340A>G (p.Gln447Arg)
c.1316A>G (p.Gln439Arg)
c.1313A>G (p.Gln438Arg)
n.1792A>G
c.1520A>G (p.Gln507Arg)
c.1427A>G (p.Gln476Arg)
c.749A>G (p.Gln250Arg)
c.1544A>G (p.Gln515Arg)
c.1298A>G (p.Gln433Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.89348110A>TCA373989127SECISBP2c.1634A>T (p.Gln545Leu)
c.1415A>T (p.Gln472Leu)
c.1430A>T (p.Gln477Leu)
c.1631A>T (p.Gln544Leu)
c.1517A>T (p.Gln506Leu)
c.737A>T (p.Gln246Leu)
c.1340A>T (p.Gln447Leu)
c.1316A>T (p.Gln439Leu)
c.1313A>T (p.Gln438Leu)
n.1792A>T
c.1520A>T (p.Gln507Leu)
c.1427A>T (p.Gln476Leu)
c.749A>T (p.Gln250Leu)
c.1544A>T (p.Gln515Leu)
c.1298A>T (p.Gln433Leu)
9g.89348111G>ACA465790506SECISBP2c.1635G>A (p.Gln545=)
c.1416G>A (p.Gln472=)
c.1431G>A (p.Gln477=)
c.1632G>A (p.Gln544=)
c.1518G>A (p.Gln506=)
c.738G>A (p.Gln246=)
c.1341G>A (p.Gln447=)
c.1317G>A (p.Gln439=)
c.1314G>A (p.Gln438=)
n.1793G>A
c.1521G>A (p.Gln507=)
c.1428G>A (p.Gln476=)
c.750G>A (p.Gln250=)
c.1545G>A (p.Gln515=)
c.1299G>A (p.Gln433=)
9g.89348111G>CCA373989128SECISBP2c.1635G>C (p.Gln545His)
c.1416G>C (p.Gln472His)
c.1431G>C (p.Gln477His)
c.1632G>C (p.Gln544His)
c.1518G>C (p.Gln506His)
c.738G>C (p.Gln246His)
c.1341G>C (p.Gln447His)
c.1317G>C (p.Gln439His)
c.1314G>C (p.Gln438His)
n.1793G>C
c.1521G>C (p.Gln507His)
c.1428G>C (p.Gln476His)
c.750G>C (p.Gln250His)
c.1545G>C (p.Gln515His)
c.1299G>C (p.Gln433His)
9g.89348111G>TCA373989129SECISBP2c.1635G>T (p.Gln545His)
c.1416G>T (p.Gln472His)
c.1431G>T (p.Gln477His)
c.1632G>T (p.Gln544His)
c.1518G>T (p.Gln506His)
c.738G>T (p.Gln246His)
c.1341G>T (p.Gln447His)
c.1317G>T (p.Gln439His)
c.1314G>T (p.Gln438His)
n.1793G>T
c.1521G>T (p.Gln507His)
c.1428G>T (p.Gln476His)
c.750G>T (p.Gln250His)
c.1545G>T (p.Gln515His)
c.1299G>T (p.Gln433His)
9g.89348112C>ACA373989130SECISBP2c.1636C>A (p.Arg546Ser)
c.1417C>A (p.Arg473Ser)
c.1432C>A (p.Arg478Ser)
c.1633C>A (p.Arg545Ser)
c.1519C>A (p.Arg507Ser)
c.739C>A (p.Arg247Ser)
c.1342C>A (p.Arg448Ser)
c.1318C>A (p.Arg440Ser)
c.1315C>A (p.Arg439Ser)
n.1794C>A
c.1522C>A (p.Arg508Ser)
c.1429C>A (p.Arg477Ser)
c.751C>A (p.Arg251Ser)
c.1546C>A (p.Arg516Ser)
c.1300C>A (p.Arg434Ser)
9g.89348112C=CA1862787995SECISBP2c.1636C= (p.Arg546=)
c.1417C= (p.Arg473=)
c.1432C= (p.Arg478=)
c.1633C= (p.Arg545=)
c.1519C= (p.Arg507=)
c.739C= (p.Arg247=)
c.1342C= (p.Arg448=)
c.1318C= (p.Arg440=)
c.1315C= (p.Arg439=)
n.1794C=
c.1522C= (p.Arg508=)
c.1429C= (p.Arg477=)
c.751C= (p.Arg251=)
c.1546C= (p.Arg516=)
c.1300C= (p.Arg434=)
9g.89348112C>GCA373989131SECISBP2c.1636C>G (p.Arg546Gly)
c.1417C>G (p.Arg473Gly)
c.1432C>G (p.Arg478Gly)
c.1633C>G (p.Arg545Gly)
c.1519C>G (p.Arg507Gly)
c.739C>G (p.Arg247Gly)
c.1342C>G (p.Arg448Gly)
c.1318C>G (p.Arg440Gly)
c.1315C>G (p.Arg439Gly)
n.1794C>G
c.1522C>G (p.Arg508Gly)
c.1429C>G (p.Arg477Gly)
c.751C>G (p.Arg251Gly)
c.1546C>G (p.Arg516Gly)
c.1300C>G (p.Arg434Gly)
9g.89348112C>TCA373989132SECISBP2c.1636C>T (p.Arg546Cys)
c.1417C>T (p.Arg473Cys)
c.1432C>T (p.Arg478Cys)
c.1633C>T (p.Arg545Cys)
c.1519C>T (p.Arg507Cys)
c.739C>T (p.Arg247Cys)
c.1342C>T (p.Arg448Cys)
c.1318C>T (p.Arg440Cys)
c.1315C>T (p.Arg439Cys)
n.1794C>T
c.1522C>T (p.Arg508Cys)
c.1429C>T (p.Arg477Cys)
c.751C>T (p.Arg251Cys)
c.1546C>T (p.Arg516Cys)
c.1300C>T (p.Arg434Cys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.89348113G>ACA5117520SECISBP2c.1637G>A (p.Arg546His)
c.1418G>A (p.Arg473His)
c.1433G>A (p.Arg478His)
c.1634G>A (p.Arg545His)
c.1520G>A (p.Arg507His)
c.740G>A (p.Arg247His)
c.1343G>A (p.Arg448His)
c.1319G>A (p.Arg440His)
c.1316G>A (p.Arg439His)
n.1795G>A
c.1523G>A (p.Arg508His)
c.1430G>A (p.Arg477His)
c.752G>A (p.Arg251His)
c.1547G>A (p.Arg516His)
c.1301G>A (p.Arg434His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.89348113G>CCA373989133SECISBP2c.1637G>C (p.Arg546Pro)
c.1418G>C (p.Arg473Pro)
c.1433G>C (p.Arg478Pro)
c.1634G>C (p.Arg545Pro)
c.1520G>C (p.Arg507Pro)
c.740G>C (p.Arg247Pro)
c.1343G>C (p.Arg448Pro)
c.1319G>C (p.Arg440Pro)
c.1316G>C (p.Arg439Pro)
n.1795G>C
c.1523G>C (p.Arg508Pro)
c.1430G>C (p.Arg477Pro)
c.752G>C (p.Arg251Pro)
c.1547G>C (p.Arg516Pro)
c.1301G>C (p.Arg434Pro)
9g.89348113G=CA1862787996SECISBP2c.1637G= (p.Arg546=)
c.1418G= (p.Arg473=)
c.1433G= (p.Arg478=)
c.1634G= (p.Arg545=)
c.1520G= (p.Arg507=)
c.740G= (p.Arg247=)
c.1343G= (p.Arg448=)
c.1319G= (p.Arg440=)
c.1316G= (p.Arg439=)
n.1795G=
c.1523G= (p.Arg508=)
c.1430G= (p.Arg477=)
c.752G= (p.Arg251=)
c.1547G= (p.Arg516=)
c.1301G= (p.Arg434=)
9g.89348113G>TCA373989134SECISBP2c.1637G>T (p.Arg546Leu)
c.1418G>T (p.Arg473Leu)
c.1433G>T (p.Arg478Leu)
c.1634G>T (p.Arg545Leu)
c.1520G>T (p.Arg507Leu)
c.740G>T (p.Arg247Leu)
c.1343G>T (p.Arg448Leu)
c.1319G>T (p.Arg440Leu)
c.1316G>T (p.Arg439Leu)
n.1795G>T
c.1523G>T (p.Arg508Leu)
c.1430G>T (p.Arg477Leu)
c.752G>T (p.Arg251Leu)
c.1547G>T (p.Arg516Leu)
c.1301G>T (p.Arg434Leu)
9g.89348114T>ACA465790510SECISBP2c.1638T>A (p.Arg546=)
c.1419T>A (p.Arg473=)
c.1434T>A (p.Arg478=)
c.1635T>A (p.Arg545=)
c.1521T>A (p.Arg507=)
c.741T>A (p.Arg247=)
c.1344T>A (p.Arg448=)
c.1320T>A (p.Arg440=)
c.1317T>A (p.Arg439=)
n.1796T>A
c.1524T>A (p.Arg508=)
c.1431T>A (p.Arg477=)
c.753T>A (p.Arg251=)
c.1548T>A (p.Arg516=)
c.1302T>A (p.Arg434=)
9g.89348114T>CCA465790512SECISBP2c.1638T>C (p.Arg546=)
c.1419T>C (p.Arg473=)
c.1434T>C (p.Arg478=)
c.1635T>C (p.Arg545=)
c.1521T>C (p.Arg507=)
c.741T>C (p.Arg247=)
c.1344T>C (p.Arg448=)
c.1320T>C (p.Arg440=)
c.1317T>C (p.Arg439=)
n.1796T>C
c.1524T>C (p.Arg508=)
c.1431T>C (p.Arg477=)
c.753T>C (p.Arg251=)
c.1548T>C (p.Arg516=)
c.1302T>C (p.Arg434=)
9g.89348114T>GCA465790513SECISBP2c.1638T>G (p.Arg546=)
c.1419T>G (p.Arg473=)
c.1434T>G (p.Arg478=)
c.1635T>G (p.Arg545=)
c.1521T>G (p.Arg507=)
c.741T>G (p.Arg247=)
c.1344T>G (p.Arg448=)
c.1320T>G (p.Arg440=)
c.1317T>G (p.Arg439=)
n.1796T>G
c.1524T>G (p.Arg508=)
c.1431T>G (p.Arg477=)
c.753T>G (p.Arg251=)
c.1548T>G (p.Arg516=)
c.1302T>G (p.Arg434=)
9g.89348115C>ACA373989137SECISBP2c.1639C>A (p.Leu547Ile)
c.1420C>A (p.Leu474Ile)
c.1435C>A (p.Leu479Ile)
c.1636C>A (p.Leu546Ile)
c.1522C>A (p.Leu508Ile)
c.742C>A (p.Leu248Ile)
c.1345C>A (p.Leu449Ile)
c.1321C>A (p.Leu441Ile)
c.1318C>A (p.Leu440Ile)
n.1797C>A
c.1525C>A (p.Leu509Ile)
c.1432C>A (p.Leu478Ile)
c.754C>A (p.Leu252Ile)
c.1549C>A (p.Leu517Ile)
c.1303C>A (p.Leu435Ile)
9g.89348115C>GCA373989136SECISBP2c.1639C>G (p.Leu547Val)
c.1420C>G (p.Leu474Val)
c.1435C>G (p.Leu479Val)
c.1636C>G (p.Leu546Val)
c.1522C>G (p.Leu508Val)
c.742C>G (p.Leu248Val)
c.1345C>G (p.Leu449Val)
c.1321C>G (p.Leu441Val)
c.1318C>G (p.Leu440Val)
n.1797C>G
c.1525C>G (p.Leu509Val)
c.1432C>G (p.Leu478Val)
c.754C>G (p.Leu252Val)
c.1549C>G (p.Leu517Val)
c.1303C>G (p.Leu435Val)
9g.89348115C>TCA373989135SECISBP2c.1639C>T (p.Leu547Phe)
c.1420C>T (p.Leu474Phe)
c.1435C>T (p.Leu479Phe)
c.1636C>T (p.Leu546Phe)
c.1522C>T (p.Leu508Phe)
c.742C>T (p.Leu248Phe)
c.1345C>T (p.Leu449Phe)
c.1321C>T (p.Leu441Phe)
c.1318C>T (p.Leu440Phe)
n.1797C>T
c.1525C>T (p.Leu509Phe)
c.1432C>T (p.Leu478Phe)
c.754C>T (p.Leu252Phe)
c.1549C>T (p.Leu517Phe)
c.1303C>T (p.Leu435Phe)
9g.89348116T>ACA373989138SECISBP2c.1640T>A (p.Leu547His)
c.1421T>A (p.Leu474His)
c.1436T>A (p.Leu479His)
c.1637T>A (p.Leu546His)
c.1523T>A (p.Leu508His)
c.743T>A (p.Leu248His)
c.1346T>A (p.Leu449His)
c.1322T>A (p.Leu441His)
c.1319T>A (p.Leu440His)
n.1798T>A
c.1526T>A (p.Leu509His)
c.1433T>A (p.Leu478His)
c.755T>A (p.Leu252His)
c.1550T>A (p.Leu517His)
c.1304T>A (p.Leu435His)
9g.89348116T>CCA373989140SECISBP2c.1640T>C (p.Leu547Pro)
c.1421T>C (p.Leu474Pro)
c.1436T>C (p.Leu479Pro)
c.1637T>C (p.Leu546Pro)
c.1523T>C (p.Leu508Pro)
c.743T>C (p.Leu248Pro)
c.1346T>C (p.Leu449Pro)
c.1322T>C (p.Leu441Pro)
c.1319T>C (p.Leu440Pro)
n.1798T>C
c.1526T>C (p.Leu509Pro)
c.1433T>C (p.Leu478Pro)
c.755T>C (p.Leu252Pro)
c.1550T>C (p.Leu517Pro)
c.1304T>C (p.Leu435Pro)
9g.89348116T>GCA373989139SECISBP2c.1640T>G (p.Leu547Arg)
c.1421T>G (p.Leu474Arg)
c.1436T>G (p.Leu479Arg)
c.1637T>G (p.Leu546Arg)
c.1523T>G (p.Leu508Arg)
c.743T>G (p.Leu248Arg)
c.1346T>G (p.Leu449Arg)
c.1322T>G (p.Leu441Arg)
c.1319T>G (p.Leu440Arg)
n.1798T>G
c.1526T>G (p.Leu509Arg)
c.1433T>G (p.Leu478Arg)
c.755T>G (p.Leu252Arg)
c.1550T>G (p.Leu517Arg)
c.1304T>G (p.Leu435Arg)
9g.89348117C>ACA465790514SECISBP2c.1641C>A (p.Leu547=)
c.1422C>A (p.Leu474=)
c.1437C>A (p.Leu479=)
c.1638C>A (p.Leu546=)
c.1524C>A (p.Leu508=)
c.744C>A (p.Leu248=)
c.1347C>A (p.Leu449=)
c.1323C>A (p.Leu441=)
c.1320C>A (p.Leu440=)
n.1799C>A
c.1527C>A (p.Leu509=)
c.1434C>A (p.Leu478=)
c.756C>A (p.Leu252=)
c.1551C>A (p.Leu517=)
c.1305C>A (p.Leu435=)
9g.89348117C=CA1862787997SECISBP2c.1641C= (p.Leu547=)
c.1422C= (p.Leu474=)
c.1437C= (p.Leu479=)
c.1638C= (p.Leu546=)
c.1524C= (p.Leu508=)
c.744C= (p.Leu248=)
c.1347C= (p.Leu449=)
c.1323C= (p.Leu441=)
c.1320C= (p.Leu440=)
n.1799C=
c.1527C= (p.Leu509=)
c.1434C= (p.Leu478=)
c.756C= (p.Leu252=)
c.1551C= (p.Leu517=)
c.1305C= (p.Leu435=)
9g.89348117C>GCA465790517SECISBP2c.1641C>G (p.Leu547=)
c.1422C>G (p.Leu474=)
c.1437C>G (p.Leu479=)
c.1638C>G (p.Leu546=)
c.1524C>G (p.Leu508=)
c.744C>G (p.Leu248=)
c.1347C>G (p.Leu449=)
c.1323C>G (p.Leu441=)
c.1320C>G (p.Leu440=)
n.1799C>G
c.1527C>G (p.Leu509=)
c.1434C>G (p.Leu478=)
c.756C>G (p.Leu252=)
c.1551C>G (p.Leu517=)
c.1305C>G (p.Leu435=)
9g.89348117C>TCA465790515SECISBP2c.1641C>T (p.Leu547=)
c.1422C>T (p.Leu474=)
c.1437C>T (p.Leu479=)
c.1638C>T (p.Leu546=)
c.1524C>T (p.Leu508=)
c.744C>T (p.Leu248=)
c.1347C>T (p.Leu449=)
c.1323C>T (p.Leu441=)
c.1320C>T (p.Leu440=)
n.1799C>T
c.1527C>T (p.Leu509=)
c.1434C>T (p.Leu478=)
c.756C>T (p.Leu252=)
c.1551C>T (p.Leu517=)
c.1305C>T (p.Leu435=)
 dbSNP gnomAD v4
9g.89348118C>ACA373989141SECISBP2c.1642C>A (p.Gln548Lys)
c.1423C>A (p.Gln475Lys)
c.1438C>A (p.Gln480Lys)
c.1639C>A (p.Gln547Lys)
c.1525C>A (p.Gln509Lys)
c.745C>A (p.Gln249Lys)
c.1348C>A (p.Gln450Lys)
c.1324C>A (p.Gln442Lys)
c.1321C>A (p.Gln441Lys)
n.1800C>A
c.1528C>A (p.Gln510Lys)
c.1435C>A (p.Gln479Lys)
c.757C>A (p.Gln253Lys)
c.1552C>A (p.Gln518Lys)
c.1306C>A (p.Gln436Lys)
9g.89348118C>GCA373989142SECISBP2c.1642C>G (p.Gln548Glu)
c.1423C>G (p.Gln475Glu)
c.1438C>G (p.Gln480Glu)
c.1639C>G (p.Gln547Glu)
c.1525C>G (p.Gln509Glu)
c.745C>G (p.Gln249Glu)
c.1348C>G (p.Gln450Glu)
c.1324C>G (p.Gln442Glu)
c.1321C>G (p.Gln441Glu)
n.1800C>G
c.1528C>G (p.Gln510Glu)
c.1435C>G (p.Gln479Glu)
c.757C>G (p.Gln253Glu)
c.1552C>G (p.Gln518Glu)
c.1306C>G (p.Gln436Glu)
9g.89348118C>TCA373989143SECISBP2c.1642C>T (p.Gln548Ter)
c.1423C>T (p.Gln475Ter)
c.1438C>T (p.Gln480Ter)
c.1639C>T (p.Gln547Ter)
c.1525C>T (p.Gln509Ter)
c.745C>T (p.Gln249Ter)
c.1348C>T (p.Gln450Ter)
c.1324C>T (p.Gln442Ter)
c.1321C>T (p.Gln441Ter)
n.1800C>T
c.1528C>T (p.Gln510Ter)
c.1435C>T (p.Gln479Ter)
c.757C>T (p.Gln253Ter)
c.1552C>T (p.Gln518Ter)
c.1306C>T (p.Gln436Ter)
9g.89348119A=CA1862787998SECISBP2c.1643A= (p.Gln548=)
c.1424A= (p.Gln475=)
c.1439A= (p.Gln480=)
c.1640A= (p.Gln547=)
c.1526A= (p.Gln509=)
c.746A= (p.Gln249=)
c.1349A= (p.Gln450=)
c.1325A= (p.Gln442=)
c.1322A= (p.Gln441=)
n.1801A=
c.1529A= (p.Gln510=)
c.1436A= (p.Gln479=)
c.758A= (p.Gln253=)
c.1553A= (p.Gln518=)
c.1307A= (p.Gln436=)
9g.89348119A>CCA373989144SECISBP2c.1643A>C (p.Gln548Pro)
c.1424A>C (p.Gln475Pro)
c.1439A>C (p.Gln480Pro)
c.1640A>C (p.Gln547Pro)
c.1526A>C (p.Gln509Pro)
c.746A>C (p.Gln249Pro)
c.1349A>C (p.Gln450Pro)
c.1325A>C (p.Gln442Pro)
c.1322A>C (p.Gln441Pro)
n.1801A>C
c.1529A>C (p.Gln510Pro)
c.1436A>C (p.Gln479Pro)
c.758A>C (p.Gln253Pro)
c.1553A>C (p.Gln518Pro)
c.1307A>C (p.Gln436Pro)
9g.89348119A>GCA373989145SECISBP2c.1643A>G (p.Gln548Arg)
c.1424A>G (p.Gln475Arg)
c.1439A>G (p.Gln480Arg)
c.1640A>G (p.Gln547Arg)
c.1526A>G (p.Gln509Arg)
c.746A>G (p.Gln249Arg)
c.1349A>G (p.Gln450Arg)
c.1325A>G (p.Gln442Arg)
c.1322A>G (p.Gln441Arg)
n.1801A>G
c.1529A>G (p.Gln510Arg)
c.1436A>G (p.Gln479Arg)
c.758A>G (p.Gln253Arg)
c.1553A>G (p.Gln518Arg)
c.1307A>G (p.Gln436Arg)
 dbSNP gnomAD v3 gnomAD v4
9g.89348119A>TCA373989146SECISBP2c.1643A>T (p.Gln548Leu)
c.1424A>T (p.Gln475Leu)
c.1439A>T (p.Gln480Leu)
c.1640A>T (p.Gln547Leu)
c.1526A>T (p.Gln509Leu)
c.746A>T (p.Gln249Leu)
c.1349A>T (p.Gln450Leu)
c.1325A>T (p.Gln442Leu)
c.1322A>T (p.Gln441Leu)
n.1801A>T
c.1529A>T (p.Gln510Leu)
c.1436A>T (p.Gln479Leu)
c.758A>T (p.Gln253Leu)
c.1553A>T (p.Gln518Leu)
c.1307A>T (p.Gln436Leu)
9g.89348120A=CA1862787999SECISBP2c.1644A= (p.Gln548=)
c.1425A= (p.Gln475=)
c.1440A= (p.Gln480=)
c.1641A= (p.Gln547=)
c.1527A= (p.Gln509=)
c.747A= (p.Gln249=)
c.1350A= (p.Gln450=)
c.1326A= (p.Gln442=)
c.1323A= (p.Gln441=)
n.1802A=
c.1530A= (p.Gln510=)
c.1437A= (p.Gln479=)
c.759A= (p.Gln253=)
c.1554A= (p.Gln518=)
c.1308A= (p.Gln436=)
9g.89348120A>CCA373989147SECISBP2c.1644A>C (p.Gln548His)
c.1425A>C (p.Gln475His)
c.1440A>C (p.Gln480His)
c.1641A>C (p.Gln547His)
c.1527A>C (p.Gln509His)
c.747A>C (p.Gln249His)
c.1350A>C (p.Gln450His)
c.1326A>C (p.Gln442His)
c.1323A>C (p.Gln441His)
n.1802A>C
c.1530A>C (p.Gln510His)
c.1437A>C (p.Gln479His)
c.759A>C (p.Gln253His)
c.1554A>C (p.Gln518His)
c.1308A>C (p.Gln436His)
9g.89348120A>GCA5117521SECISBP2c.1644A>G (p.Gln548=)
c.1425A>G (p.Gln475=)
c.1440A>G (p.Gln480=)
c.1641A>G (p.Gln547=)
c.1527A>G (p.Gln509=)
c.747A>G (p.Gln249=)
c.1350A>G (p.Gln450=)
c.1326A>G (p.Gln442=)
c.1323A>G (p.Gln441=)
n.1802A>G
c.1530A>G (p.Gln510=)
c.1437A>G (p.Gln479=)
c.759A>G (p.Gln253=)
c.1554A>G (p.Gln518=)
c.1308A>G (p.Gln436=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.89348120A>TCA373989148SECISBP2c.1644A>T (p.Gln548His)
c.1425A>T (p.Gln475His)
c.1440A>T (p.Gln480His)
c.1641A>T (p.Gln547His)
c.1527A>T (p.Gln509His)
c.747A>T (p.Gln249His)
c.1350A>T (p.Gln450His)
c.1326A>T (p.Gln442His)
c.1323A>T (p.Gln441His)
n.1802A>T
c.1530A>T (p.Gln510His)
c.1437A>T (p.Gln479His)
c.759A>T (p.Gln253His)
c.1554A>T (p.Gln518His)
c.1308A>T (p.Gln436His)
9g.89348121G>ACA373989149SECISBP2c.1645G>A (p.Glu549Lys)
c.1426G>A (p.Glu476Lys)
c.1441G>A (p.Glu481Lys)
c.1642G>A (p.Glu548Lys)
c.1528G>A (p.Glu510Lys)
c.748G>A (p.Glu250Lys)
c.1351G>A (p.Glu451Lys)
c.1327G>A (p.Glu443Lys)
c.1324G>A (p.Glu442Lys)
n.1803G>A
c.1531G>A (p.Glu511Lys)
c.1438G>A (p.Glu480Lys)
c.760G>A (p.Glu254Lys)
c.1555G>A (p.Glu519Lys)
c.1309G>A (p.Glu437Lys)
9g.89348121G>CCA373989150SECISBP2c.1645G>C (p.Glu549Gln)
c.1426G>C (p.Glu476Gln)
c.1441G>C (p.Glu481Gln)
c.1642G>C (p.Glu548Gln)
c.1528G>C (p.Glu510Gln)
c.748G>C (p.Glu250Gln)
c.1351G>C (p.Glu451Gln)
c.1327G>C (p.Glu443Gln)
c.1324G>C (p.Glu442Gln)
n.1803G>C
c.1531G>C (p.Glu511Gln)
c.1438G>C (p.Glu480Gln)
c.760G>C (p.Glu254Gln)
c.1555G>C (p.Glu519Gln)
c.1309G>C (p.Glu437Gln)
9g.89348121G>TCA373989151SECISBP2c.1645G>T (p.Glu549Ter)
c.1426G>T (p.Glu476Ter)
c.1441G>T (p.Glu481Ter)
c.1642G>T (p.Glu548Ter)
c.1528G>T (p.Glu510Ter)
c.748G>T (p.Glu250Ter)
c.1351G>T (p.Glu451Ter)
c.1327G>T (p.Glu443Ter)
c.1324G>T (p.Glu442Ter)
n.1803G>T
c.1531G>T (p.Glu511Ter)
c.1438G>T (p.Glu480Ter)
c.760G>T (p.Glu254Ter)
c.1555G>T (p.Glu519Ter)
c.1309G>T (p.Glu437Ter)
9g.89348122A=CA1862788001SECISBP2c.1646A= (p.Glu549=)
c.1427A= (p.Glu476=)
c.1442A= (p.Glu481=)
c.1643A= (p.Glu548=)
c.1529A= (p.Glu510=)
c.749A= (p.Glu250=)
c.1352A= (p.Glu451=)
c.1328A= (p.Glu443=)
c.1325A= (p.Glu442=)
n.1804A=
c.1532A= (p.Glu511=)
c.1439A= (p.Glu480=)
c.761A= (p.Glu254=)
c.1556A= (p.Glu519=)
c.1310A= (p.Glu437=)
9g.89348122A>CCA373989154SECISBP2c.1646A>C (p.Glu549Ala)
c.1427A>C (p.Glu476Ala)
c.1442A>C (p.Glu481Ala)
c.1643A>C (p.Glu548Ala)
c.1529A>C (p.Glu510Ala)
c.749A>C (p.Glu250Ala)
c.1352A>C (p.Glu451Ala)
c.1328A>C (p.Glu443Ala)
c.1325A>C (p.Glu442Ala)
n.1804A>C
c.1532A>C (p.Glu511Ala)
c.1439A>C (p.Glu480Ala)
c.761A>C (p.Glu254Ala)
c.1556A>C (p.Glu519Ala)
c.1310A>C (p.Glu437Ala)
 dbSNP gnomAD v3 gnomAD v4
9g.89348122A>GCA373989152SECISBP2c.1646A>G (p.Glu549Gly)
c.1427A>G (p.Glu476Gly)
c.1442A>G (p.Glu481Gly)
c.1643A>G (p.Glu548Gly)
c.1529A>G (p.Glu510Gly)
c.749A>G (p.Glu250Gly)
c.1352A>G (p.Glu451Gly)
c.1328A>G (p.Glu443Gly)
c.1325A>G (p.Glu442Gly)
n.1804A>G
c.1532A>G (p.Glu511Gly)
c.1439A>G (p.Glu480Gly)
c.761A>G (p.Glu254Gly)
c.1556A>G (p.Glu519Gly)
c.1310A>G (p.Glu437Gly)
 gnomAD v4 COSMIC
9g.89348122A>TCA373989153SECISBP2c.1646A>T (p.Glu549Val)
c.1427A>T (p.Glu476Val)
c.1442A>T (p.Glu481Val)
c.1643A>T (p.Glu548Val)
c.1529A>T (p.Glu510Val)
c.749A>T (p.Glu250Val)
c.1352A>T (p.Glu451Val)
c.1328A>T (p.Glu443Val)
c.1325A>T (p.Glu442Val)
n.1804A>T
c.1532A>T (p.Glu511Val)
c.1439A>T (p.Glu480Val)
c.761A>T (p.Glu254Val)
c.1556A>T (p.Glu519Val)
c.1310A>T (p.Glu437Val)
9g.89348123A>CCA373989155SECISBP2c.1647A>C (p.Glu549Asp)
c.1428A>C (p.Glu476Asp)
c.1443A>C (p.Glu481Asp)
c.1644A>C (p.Glu548Asp)
c.1530A>C (p.Glu510Asp)
c.750A>C (p.Glu250Asp)
c.1353A>C (p.Glu451Asp)
c.1329A>C (p.Glu443Asp)
c.1326A>C (p.Glu442Asp)
n.1805A>C
c.1533A>C (p.Glu511Asp)
c.1440A>C (p.Glu480Asp)
c.762A>C (p.Glu254Asp)
c.1557A>C (p.Glu519Asp)
c.1311A>C (p.Glu437Asp)
9g.89348123A>GCA465790519SECISBP2c.1647A>G (p.Glu549=)
c.1428A>G (p.Glu476=)
c.1443A>G (p.Glu481=)
c.1644A>G (p.Glu548=)
c.1530A>G (p.Glu510=)
c.750A>G (p.Glu250=)
c.1353A>G (p.Glu451=)
c.1329A>G (p.Glu443=)
c.1326A>G (p.Glu442=)
n.1805A>G
c.1533A>G (p.Glu511=)
c.1440A>G (p.Glu480=)
c.762A>G (p.Glu254=)
c.1557A>G (p.Glu519=)
c.1311A>G (p.Glu437=)
9g.89348123A>TCA373989156SECISBP2c.1647A>T (p.Glu549Asp)
c.1428A>T (p.Glu476Asp)
c.1443A>T (p.Glu481Asp)
c.1644A>T (p.Glu548Asp)
c.1530A>T (p.Glu510Asp)
c.750A>T (p.Glu250Asp)
c.1353A>T (p.Glu451Asp)
c.1329A>T (p.Glu443Asp)
c.1326A>T (p.Glu442Asp)
n.1805A>T
c.1533A>T (p.Glu511Asp)
c.1440A>T (p.Glu480Asp)
c.762A>T (p.Glu254Asp)
c.1557A>T (p.Glu519Asp)
c.1311A>T (p.Glu437Asp)
9g.89348124A>CCA373989157SECISBP2c.1648A>C (p.Asn550His)
c.1429A>C (p.Asn477His)
c.1444A>C (p.Asn482His)
c.1645A>C (p.Asn549His)
c.1531A>C (p.Asn511His)
c.751A>C (p.Asn251His)
c.1354A>C (p.Asn452His)
c.1330A>C (p.Asn444His)
c.1327A>C (p.Asn443His)
n.1806A>C
c.1534A>C (p.Asn512His)
c.1441A>C (p.Asn481His)
c.763A>C (p.Asn255His)
c.1558A>C (p.Asn520His)
c.1312A>C (p.Asn438His)
9g.89348124A>GCA373989158SECISBP2c.1648A>G (p.Asn550Asp)
c.1429A>G (p.Asn477Asp)
c.1444A>G (p.Asn482Asp)
c.1645A>G (p.Asn549Asp)
c.1531A>G (p.Asn511Asp)
c.751A>G (p.Asn251Asp)
c.1354A>G (p.Asn452Asp)
c.1330A>G (p.Asn444Asp)
c.1327A>G (p.Asn443Asp)
n.1806A>G
c.1534A>G (p.Asn512Asp)
c.1441A>G (p.Asn481Asp)
c.763A>G (p.Asn255Asp)
c.1558A>G (p.Asn520Asp)
c.1312A>G (p.Asn438Asp)
9g.89348124A>TCA373989159SECISBP2c.1648A>T (p.Asn550Tyr)
c.1429A>T (p.Asn477Tyr)
c.1444A>T (p.Asn482Tyr)
c.1645A>T (p.Asn549Tyr)
c.1531A>T (p.Asn511Tyr)
c.751A>T (p.Asn251Tyr)
c.1354A>T (p.Asn452Tyr)
c.1330A>T (p.Asn444Tyr)
c.1327A>T (p.Asn443Tyr)
n.1806A>T
c.1534A>T (p.Asn512Tyr)
c.1441A>T (p.Asn481Tyr)
c.763A>T (p.Asn255Tyr)
c.1558A>T (p.Asn520Tyr)
c.1312A>T (p.Asn438Tyr)
9g.89348125A=CA1862788004SECISBP2c.1649A= (p.Asn550=)
c.1430A= (p.Asn477=)
c.1445A= (p.Asn482=)
c.1646A= (p.Asn549=)
c.1532A= (p.Asn511=)
c.752A= (p.Asn251=)
c.1355A= (p.Asn452=)
c.1331A= (p.Asn444=)
c.1328A= (p.Asn443=)
n.1807A=
c.1535A= (p.Asn512=)
c.1442A= (p.Asn481=)
c.764A= (p.Asn255=)
c.1559A= (p.Asn520=)
c.1313A= (p.Asn438=)
9g.89348125A>CCA373989160SECISBP2c.1649A>C (p.Asn550Thr)
c.1430A>C (p.Asn477Thr)
c.1445A>C (p.Asn482Thr)
c.1646A>C (p.Asn549Thr)
c.1532A>C (p.Asn511Thr)
c.752A>C (p.Asn251Thr)
c.1355A>C (p.Asn452Thr)
c.1331A>C (p.Asn444Thr)
c.1328A>C (p.Asn443Thr)
n.1807A>C
c.1535A>C (p.Asn512Thr)
c.1442A>C (p.Asn481Thr)
c.764A>C (p.Asn255Thr)
c.1559A>C (p.Asn520Thr)
c.1313A>C (p.Asn438Thr)
 dbSNP gnomAD v4
9g.89348125A>GCA373989161SECISBP2c.1649A>G (p.Asn550Ser)
c.1430A>G (p.Asn477Ser)
c.1445A>G (p.Asn482Ser)
c.1646A>G (p.Asn549Ser)
c.1532A>G (p.Asn511Ser)
c.752A>G (p.Asn251Ser)
c.1355A>G (p.Asn452Ser)
c.1331A>G (p.Asn444Ser)
c.1328A>G (p.Asn443Ser)
n.1807A>G
c.1535A>G (p.Asn512Ser)
c.1442A>G (p.Asn481Ser)
c.764A>G (p.Asn255Ser)
c.1559A>G (p.Asn520Ser)
c.1313A>G (p.Asn438Ser)
9g.89348125A>TCA373989162SECISBP2c.1649A>T (p.Asn550Ile)
c.1430A>T (p.Asn477Ile)
c.1445A>T (p.Asn482Ile)
c.1646A>T (p.Asn549Ile)
c.1532A>T (p.Asn511Ile)
c.752A>T (p.Asn251Ile)
c.1355A>T (p.Asn452Ile)
c.1331A>T (p.Asn444Ile)
c.1328A>T (p.Asn443Ile)
n.1807A>T
c.1535A>T (p.Asn512Ile)
c.1442A>T (p.Asn481Ile)
c.764A>T (p.Asn255Ile)
c.1559A>T (p.Asn520Ile)
c.1313A>T (p.Asn438Ile)
9g.89348126T>ACA373989163SECISBP2c.1650T>A (p.Asn550Lys)
c.1431T>A (p.Asn477Lys)
c.1446T>A (p.Asn482Lys)
c.1647T>A (p.Asn549Lys)
c.1533T>A (p.Asn511Lys)
c.753T>A (p.Asn251Lys)
c.1356T>A (p.Asn452Lys)
c.1332T>A (p.Asn444Lys)
c.1329T>A (p.Asn443Lys)
n.1808T>A
c.1536T>A (p.Asn512Lys)
c.1443T>A (p.Asn481Lys)
c.765T>A (p.Asn255Lys)
c.1560T>A (p.Asn520Lys)
c.1314T>A (p.Asn438Lys)
9g.89348126T>CCA465790521SECISBP2c.1650T>C (p.Asn550=)
c.1431T>C (p.Asn477=)
c.1446T>C (p.Asn482=)
c.1647T>C (p.Asn549=)
c.1533T>C (p.Asn511=)
c.753T>C (p.Asn251=)
c.1356T>C (p.Asn452=)
c.1332T>C (p.Asn444=)
c.1329T>C (p.Asn443=)
n.1808T>C
c.1536T>C (p.Asn512=)
c.1443T>C (p.Asn481=)
c.765T>C (p.Asn255=)
c.1560T>C (p.Asn520=)
c.1314T>C (p.Asn438=)
9g.89348126T>GCA373989164SECISBP2c.1650T>G (p.Asn550Lys)
c.1431T>G (p.Asn477Lys)
c.1446T>G (p.Asn482Lys)
c.1647T>G (p.Asn549Lys)
c.1533T>G (p.Asn511Lys)
c.753T>G (p.Asn251Lys)
c.1356T>G (p.Asn452Lys)
c.1332T>G (p.Asn444Lys)
c.1329T>G (p.Asn443Lys)
n.1808T>G
c.1536T>G (p.Asn512Lys)
c.1443T>G (p.Asn481Lys)
c.765T>G (p.Asn255Lys)
c.1560T>G (p.Asn520Lys)
c.1314T>G (p.Asn438Lys)
9g.89348127G>ACA373989167SECISBP2c.1651G>A (p.Ala551Thr)
c.1432G>A (p.Ala478Thr)
c.1447G>A (p.Ala483Thr)
c.1648G>A (p.Ala550Thr)
c.1534G>A (p.Ala512Thr)
c.754G>A (p.Ala252Thr)
c.1357G>A (p.Ala453Thr)
c.1333G>A (p.Ala445Thr)
c.1330G>A (p.Ala444Thr)
n.1809G>A
c.1537G>A (p.Ala513Thr)
c.1444G>A (p.Ala482Thr)
c.766G>A (p.Ala256Thr)
c.1561G>A (p.Ala521Thr)
c.1315G>A (p.Ala439Thr)
 gnomAD v4
9g.89348127G>CCA373989166SECISBP2c.1651G>C (p.Ala551Pro)
c.1432G>C (p.Ala478Pro)
c.1447G>C (p.Ala483Pro)
c.1648G>C (p.Ala550Pro)
c.1534G>C (p.Ala512Pro)
c.754G>C (p.Ala252Pro)
c.1357G>C (p.Ala453Pro)
c.1333G>C (p.Ala445Pro)
c.1330G>C (p.Ala444Pro)
n.1809G>C
c.1537G>C (p.Ala513Pro)
c.1444G>C (p.Ala482Pro)
c.766G>C (p.Ala256Pro)
c.1561G>C (p.Ala521Pro)
c.1315G>C (p.Ala439Pro)
9g.89348127G>TCA373989165SECISBP2c.1651G>T (p.Ala551Ser)
c.1432G>T (p.Ala478Ser)
c.1447G>T (p.Ala483Ser)
c.1648G>T (p.Ala550Ser)
c.1534G>T (p.Ala512Ser)
c.754G>T (p.Ala252Ser)
c.1357G>T (p.Ala453Ser)
c.1333G>T (p.Ala445Ser)
c.1330G>T (p.Ala444Ser)
n.1809G>T
c.1537G>T (p.Ala513Ser)
c.1444G>T (p.Ala482Ser)
c.766G>T (p.Ala256Ser)
c.1561G>T (p.Ala521Ser)
c.1315G>T (p.Ala439Ser)
9g.89348128C>ACA373989168SECISBP2c.1652C>A (p.Ala551Asp)
c.1433C>A (p.Ala478Asp)
c.1448C>A (p.Ala483Asp)
c.1649C>A (p.Ala550Asp)
c.1535C>A (p.Ala512Asp)
c.755C>A (p.Ala252Asp)
c.1358C>A (p.Ala453Asp)
c.1334C>A (p.Ala445Asp)
c.1331C>A (p.Ala444Asp)
n.1810C>A
c.1538C>A (p.Ala513Asp)
c.1445C>A (p.Ala482Asp)
c.767C>A (p.Ala256Asp)
c.1562C>A (p.Ala521Asp)
c.1316C>A (p.Ala439Asp)
9g.89348128C>GCA373989169SECISBP2c.1652C>G (p.Ala551Gly)
c.1433C>G (p.Ala478Gly)
c.1448C>G (p.Ala483Gly)
c.1649C>G (p.Ala550Gly)
c.1535C>G (p.Ala512Gly)
c.755C>G (p.Ala252Gly)
c.1358C>G (p.Ala453Gly)
c.1334C>G (p.Ala445Gly)
c.1331C>G (p.Ala444Gly)
n.1810C>G
c.1538C>G (p.Ala513Gly)
c.1445C>G (p.Ala482Gly)
c.767C>G (p.Ala256Gly)
c.1562C>G (p.Ala521Gly)
c.1316C>G (p.Ala439Gly)
9g.89348128C>TCA373989170SECISBP2c.1652C>T (p.Ala551Val)
c.1433C>T (p.Ala478Val)
c.1448C>T (p.Ala483Val)
c.1649C>T (p.Ala550Val)
c.1535C>T (p.Ala512Val)
c.755C>T (p.Ala252Val)
c.1358C>T (p.Ala453Val)
c.1334C>T (p.Ala445Val)
c.1331C>T (p.Ala444Val)
n.1810C>T
c.1538C>T (p.Ala513Val)
c.1445C>T (p.Ala482Val)
c.767C>T (p.Ala256Val)
c.1562C>T (p.Ala521Val)
c.1316C>T (p.Ala439Val)
9g.89348128_89348130delinsCTGCA1862788007SECISBP2c.1652_1654delinsCTG (p.Ala551=)
c.1433_1435delinsCTG (p.Ala478=)
c.1448_1450delinsCTG (p.Ala483=)
c.1649_1651delinsCTG (p.Ala550=)
c.1535_1537delinsCTG (p.Ala512=)
c.755_757delinsCTG (p.Ala252=)
c.1358_1360delinsCTG (p.Ala453=)
c.1334_1336delinsCTG (p.Ala445=)
c.1331_1333delinsCTG (p.Ala444=)
n.1810_1812delinsCTG
c.1538_1540delinsCTG (p.Ala513=)
c.1445_1447delinsCTG (p.Ala482=)
c.767_769delinsCTG (p.Ala256=)
c.1562_1564delinsCTG (p.Ala521=)
c.1316_1318delinsCTG (p.Ala439=)
9g.89348129T>ACA465790523SECISBP2c.1653T>A (p.Ala551=)
c.1434T>A (p.Ala478=)
c.1449T>A (p.Ala483=)
c.1650T>A (p.Ala550=)
c.1536T>A (p.Ala512=)
c.756T>A (p.Ala252=)
c.1359T>A (p.Ala453=)
c.1335T>A (p.Ala445=)
c.1332T>A (p.Ala444=)
n.1811T>A
c.1539T>A (p.Ala513=)
c.1446T>A (p.Ala482=)
c.768T>A (p.Ala256=)
c.1563T>A (p.Ala521=)
c.1317T>A (p.Ala439=)
9g.89348129T>CCA465790525SECISBP2c.1653T>C (p.Ala551=)
c.1434T>C (p.Ala478=)
c.1449T>C (p.Ala483=)
c.1650T>C (p.Ala550=)
c.1536T>C (p.Ala512=)
c.756T>C (p.Ala252=)
c.1359T>C (p.Ala453=)
c.1335T>C (p.Ala445=)
c.1332T>C (p.Ala444=)
n.1811T>C
c.1539T>C (p.Ala513=)
c.1446T>C (p.Ala482=)
c.768T>C (p.Ala256=)
c.1563T>C (p.Ala521=)
c.1317T>C (p.Ala439=)
 gnomAD v4
9g.89348129T>GCA465790524SECISBP2c.1653T>G (p.Ala551=)
c.1434T>G (p.Ala478=)
c.1449T>G (p.Ala483=)
c.1650T>G (p.Ala550=)
c.1536T>G (p.Ala512=)
c.756T>G (p.Ala252=)
c.1359T>G (p.Ala453=)
c.1335T>G (p.Ala445=)
c.1332T>G (p.Ala444=)
n.1811T>G
c.1539T>G (p.Ala513=)
c.1446T>G (p.Ala482=)
c.768T>G (p.Ala256=)
c.1563T>G (p.Ala521=)
c.1317T>G (p.Ala439=)
9g.89348131_89348132delCA5117522SECISBP2c.1655_1656del (p.Val552GlufsTer7)
c.1436_1437del (p.Val479GlufsTer7)
c.1451_1452del (p.Val484GlufsTer7)
c.1652_1653del (p.Val551GlufsTer7)
c.1538_1539del (p.Val513GlufsTer7)
c.758_759del (p.Val253GlufsTer7)
c.1361_1362del (p.Val454GlufsTer7)
c.1337_1338del (p.Val446GlufsTer7)
c.1334_1335del (p.Val445GlufsTer7)
n.1813_1814del
c.1541_1542del (p.Val514GlufsTer7)
c.1448_1449del (p.Val483GlufsTer7)
c.770_771del (p.Val257GlufsTer7)
c.1565_1566del (p.Val522GlufsTer7)
c.1319_1320del (p.Val440GlufsTer7)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.89348130G>ACA373989171SECISBP2c.1654G>A (p.Val552Met)
c.1435G>A (p.Val479Met)
c.1450G>A (p.Val484Met)
c.1651G>A (p.Val551Met)
c.1537G>A (p.Val513Met)
c.757G>A (p.Val253Met)
c.1360G>A (p.Val454Met)
c.1336G>A (p.Val446Met)
c.1333G>A (p.Val445Met)
n.1812G>A
c.1540G>A (p.Val514Met)
c.1447G>A (p.Val483Met)
c.769G>A (p.Val257Met)
c.1564G>A (p.Val522Met)
c.1318G>A (p.Val440Met)
 gnomAD v4
9g.89348130G>CCA373989172SECISBP2c.1654G>C (p.Val552Leu)
c.1435G>C (p.Val479Leu)
c.1450G>C (p.Val484Leu)
c.1651G>C (p.Val551Leu)
c.1537G>C (p.Val513Leu)
c.757G>C (p.Val253Leu)
c.1360G>C (p.Val454Leu)
c.1336G>C (p.Val446Leu)
c.1333G>C (p.Val445Leu)
n.1812G>C
c.1540G>C (p.Val514Leu)
c.1447G>C (p.Val483Leu)
c.769G>C (p.Val257Leu)
c.1564G>C (p.Val522Leu)
c.1318G>C (p.Val440Leu)
9g.89348130G=CA1862788010SECISBP2c.1654G= (p.Val552=)
c.1435G= (p.Val479=)
c.1450G= (p.Val484=)
c.1651G= (p.Val551=)
c.1537G= (p.Val513=)
c.757G= (p.Val253=)
c.1360G= (p.Val454=)
c.1336G= (p.Val446=)
c.1333G= (p.Val445=)
n.1812G=
c.1540G= (p.Val514=)
c.1447G= (p.Val483=)
c.769G= (p.Val257=)
c.1564G= (p.Val522=)
c.1318G= (p.Val440=)
9g.89348130G>TCA5117523SECISBP2c.1654G>T (p.Val552Leu)
c.1435G>T (p.Val479Leu)
c.1450G>T (p.Val484Leu)
c.1651G>T (p.Val551Leu)
c.1537G>T (p.Val513Leu)
c.757G>T (p.Val253Leu)
c.1360G>T (p.Val454Leu)
c.1336G>T (p.Val446Leu)
c.1333G>T (p.Val445Leu)
n.1812G>T
c.1540G>T (p.Val514Leu)
c.1447G>T (p.Val483Leu)
c.769G>T (p.Val257Leu)
c.1564G>T (p.Val522Leu)
c.1318G>T (p.Val440Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.89348131T>ACA373989173SECISBP2c.1655T>A (p.Val552Glu)
c.1436T>A (p.Val479Glu)
c.1451T>A (p.Val484Glu)
c.1652T>A (p.Val551Glu)
c.1538T>A (p.Val513Glu)
c.758T>A (p.Val253Glu)
c.1361T>A (p.Val454Glu)
c.1337T>A (p.Val446Glu)
c.1334T>A (p.Val445Glu)
n.1813T>A
c.1541T>A (p.Val514Glu)
c.1448T>A (p.Val483Glu)
c.770T>A (p.Val257Glu)
c.1565T>A (p.Val522Glu)
c.1319T>A (p.Val440Glu)
 gnomAD v4
9g.89348131T>CCA373989174SECISBP2c.1655T>C (p.Val552Ala)
c.1436T>C (p.Val479Ala)
c.1451T>C (p.Val484Ala)
c.1652T>C (p.Val551Ala)
c.1538T>C (p.Val513Ala)
c.758T>C (p.Val253Ala)
c.1361T>C (p.Val454Ala)
c.1337T>C (p.Val446Ala)
c.1334T>C (p.Val445Ala)
n.1813T>C
c.1541T>C (p.Val514Ala)
c.1448T>C (p.Val483Ala)
c.770T>C (p.Val257Ala)
c.1565T>C (p.Val522Ala)
c.1319T>C (p.Val440Ala)
9g.89348131T>GCA373989175SECISBP2c.1655T>G (p.Val552Gly)
c.1436T>G (p.Val479Gly)
c.1451T>G (p.Val484Gly)
c.1652T>G (p.Val551Gly)
c.1538T>G (p.Val513Gly)
c.758T>G (p.Val253Gly)
c.1361T>G (p.Val454Gly)
c.1337T>G (p.Val446Gly)
c.1334T>G (p.Val445Gly)
n.1813T>G
c.1541T>G (p.Val514Gly)
c.1448T>G (p.Val483Gly)
c.770T>G (p.Val257Gly)
c.1565T>G (p.Val522Gly)
c.1319T>G (p.Val440Gly)
9g.89348132G>ACA465790528SECISBP2c.1656G>A (p.Val552=)
c.1437G>A (p.Val479=)
c.1452G>A (p.Val484=)
c.1653G>A (p.Val551=)
c.1539G>A (p.Val513=)
c.759G>A (p.Val253=)
c.1362G>A (p.Val454=)
c.1338G>A (p.Val446=)
c.1335G>A (p.Val445=)
n.1814G>A
c.1542G>A (p.Val514=)
c.1449G>A (p.Val483=)
c.771G>A (p.Val257=)
c.1566G>A (p.Val522=)
c.1320G>A (p.Val440=)
 dbSNP gnomAD v2 COSMIC
9g.89348132G>CCA465790529SECISBP2c.1656G>C (p.Val552=)
c.1437G>C (p.Val479=)
c.1452G>C (p.Val484=)
c.1653G>C (p.Val551=)
c.1539G>C (p.Val513=)
c.759G>C (p.Val253=)
c.1362G>C (p.Val454=)
c.1338G>C (p.Val446=)
c.1335G>C (p.Val445=)
n.1814G>C
c.1542G>C (p.Val514=)
c.1449G>C (p.Val483=)
c.771G>C (p.Val257=)
c.1566G>C (p.Val522=)
c.1320G>C (p.Val440=)
9g.89348132G=CA1862788012SECISBP2c.1656G= (p.Val552=)
c.1437G= (p.Val479=)
c.1452G= (p.Val484=)
c.1653G= (p.Val551=)
c.1539G= (p.Val513=)
c.759G= (p.Val253=)
c.1362G= (p.Val454=)
c.1338G= (p.Val446=)
c.1335G= (p.Val445=)
n.1814G=
c.1542G= (p.Val514=)
c.1449G= (p.Val483=)
c.771G= (p.Val257=)
c.1566G= (p.Val522=)
c.1320G= (p.Val440=)
9g.89348132G>TCA465790530SECISBP2c.1656G>T (p.Val552=)
c.1437G>T (p.Val479=)
c.1452G>T (p.Val484=)
c.1653G>T (p.Val551=)
c.1539G>T (p.Val513=)
c.759G>T (p.Val253=)
c.1362G>T (p.Val454=)
c.1338G>T (p.Val446=)
c.1335G>T (p.Val445=)
n.1814G>T
c.1542G>T (p.Val514=)
c.1449G>T (p.Val483=)
c.771G>T (p.Val257=)
c.1566G>T (p.Val522=)
c.1320G>T (p.Val440=)
9g.89348133A>CCA373989176SECISBP2c.1657A>C (p.Ser553Arg)
c.1438A>C (p.Ser480Arg)
c.1453A>C (p.Ser485Arg)
c.1654A>C (p.Ser552Arg)
c.1540A>C (p.Ser514Arg)
c.760A>C (p.Ser254Arg)
c.1363A>C (p.Ser455Arg)
c.1339A>C (p.Ser447Arg)
c.1336A>C (p.Ser446Arg)
n.1815A>C
c.1543A>C (p.Ser515Arg)
c.1450A>C (p.Ser484Arg)
c.772A>C (p.Ser258Arg)
c.1567A>C (p.Ser523Arg)
c.1321A>C (p.Ser441Arg)
9g.89348133A>GCA373989177SECISBP2c.1657A>G (p.Ser553Gly)
c.1438A>G (p.Ser480Gly)
c.1453A>G (p.Ser485Gly)
c.1654A>G (p.Ser552Gly)
c.1540A>G (p.Ser514Gly)
c.760A>G (p.Ser254Gly)
c.1363A>G (p.Ser455Gly)
c.1339A>G (p.Ser447Gly)
c.1336A>G (p.Ser446Gly)
n.1815A>G
c.1543A>G (p.Ser515Gly)
c.1450A>G (p.Ser484Gly)
c.772A>G (p.Ser258Gly)
c.1567A>G (p.Ser523Gly)
c.1321A>G (p.Ser441Gly)
9g.89348133A>TCA373989178SECISBP2c.1657A>T (p.Ser553Cys)
c.1438A>T (p.Ser480Cys)
c.1453A>T (p.Ser485Cys)
c.1654A>T (p.Ser552Cys)
c.1540A>T (p.Ser514Cys)
c.760A>T (p.Ser254Cys)
c.1363A>T (p.Ser455Cys)
c.1339A>T (p.Ser447Cys)
c.1336A>T (p.Ser446Cys)
n.1815A>T
c.1543A>T (p.Ser515Cys)
c.1450A>T (p.Ser484Cys)
c.772A>T (p.Ser258Cys)
c.1567A>T (p.Ser523Cys)
c.1321A>T (p.Ser441Cys)
9g.89348134G>ACA5117524SECISBP2c.1658G>A (p.Ser553Asn)
c.1439G>A (p.Ser480Asn)
c.1454G>A (p.Ser485Asn)
c.1655G>A (p.Ser552Asn)
c.1541G>A (p.Ser514Asn)
c.761G>A (p.Ser254Asn)
c.1364G>A (p.Ser455Asn)
c.1340G>A (p.Ser447Asn)
c.1337G>A (p.Ser446Asn)
n.1816G>A
c.1544G>A (p.Ser515Asn)
c.1451G>A (p.Ser484Asn)
c.773G>A (p.Ser258Asn)
c.1568G>A (p.Ser523Asn)
c.1322G>A (p.Ser441Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.89348134G>CCA373989180SECISBP2c.1658G>C (p.Ser553Thr)
c.1439G>C (p.Ser480Thr)
c.1454G>C (p.Ser485Thr)
c.1655G>C (p.Ser552Thr)
c.1541G>C (p.Ser514Thr)
c.761G>C (p.Ser254Thr)
c.1364G>C (p.Ser455Thr)
c.1340G>C (p.Ser447Thr)
c.1337G>C (p.Ser446Thr)
n.1816G>C
c.1544G>C (p.Ser515Thr)
c.1451G>C (p.Ser484Thr)
c.773G>C (p.Ser258Thr)
c.1568G>C (p.Ser523Thr)
c.1322G>C (p.Ser441Thr)
9g.89348134G=CA1862788013SECISBP2c.1658G= (p.Ser553=)
c.1439G= (p.Ser480=)
c.1454G= (p.Ser485=)
c.1655G= (p.Ser552=)
c.1541G= (p.Ser514=)
c.761G= (p.Ser254=)
c.1364G= (p.Ser455=)
c.1340G= (p.Ser447=)
c.1337G= (p.Ser446=)
n.1816G=
c.1544G= (p.Ser515=)
c.1451G= (p.Ser484=)
c.773G= (p.Ser258=)
c.1568G= (p.Ser523=)
c.1322G= (p.Ser441=)
9g.89348134G>TCA373989179SECISBP2c.1658G>T (p.Ser553Ile)
c.1439G>T (p.Ser480Ile)
c.1454G>T (p.Ser485Ile)
c.1655G>T (p.Ser552Ile)
c.1541G>T (p.Ser514Ile)
c.761G>T (p.Ser254Ile)
c.1364G>T (p.Ser455Ile)
c.1340G>T (p.Ser447Ile)
c.1337G>T (p.Ser446Ile)
n.1816G>T
c.1544G>T (p.Ser515Ile)
c.1451G>T (p.Ser484Ile)
c.773G>T (p.Ser258Ile)
c.1568G>T (p.Ser523Ile)
c.1322G>T (p.Ser441Ile)
9g.89348135T>ACA373989181SECISBP2c.1659T>A (p.Ser553Arg)
c.1440T>A (p.Ser480Arg)
c.1455T>A (p.Ser485Arg)
c.1656T>A (p.Ser552Arg)
c.1542T>A (p.Ser514Arg)
c.762T>A (p.Ser254Arg)
c.1365T>A (p.Ser455Arg)
c.1341T>A (p.Ser447Arg)
c.1338T>A (p.Ser446Arg)
n.1817T>A
c.1545T>A (p.Ser515Arg)
c.1452T>A (p.Ser484Arg)
c.774T>A (p.Ser258Arg)
c.1569T>A (p.Ser523Arg)
c.1323T>A (p.Ser441Arg)
9g.89348135T>CCA465790531SECISBP2c.1659T>C (p.Ser553=)
c.1440T>C (p.Ser480=)
c.1455T>C (p.Ser485=)
c.1656T>C (p.Ser552=)
c.1542T>C (p.Ser514=)
c.762T>C (p.Ser254=)
c.1365T>C (p.Ser455=)
c.1341T>C (p.Ser447=)
c.1338T>C (p.Ser446=)
n.1817T>C
c.1545T>C (p.Ser515=)
c.1452T>C (p.Ser484=)
c.774T>C (p.Ser258=)
c.1569T>C (p.Ser523=)
c.1323T>C (p.Ser441=)
9g.89348135T>GCA373989182SECISBP2c.1659T>G (p.Ser553Arg)
c.1440T>G (p.Ser480Arg)
c.1455T>G (p.Ser485Arg)
c.1656T>G (p.Ser552Arg)
c.1542T>G (p.Ser514Arg)
c.762T>G (p.Ser254Arg)
c.1365T>G (p.Ser455Arg)
c.1341T>G (p.Ser447Arg)
c.1338T>G (p.Ser446Arg)
n.1817T>G
c.1545T>G (p.Ser515Arg)
c.1452T>G (p.Ser484Arg)
c.774T>G (p.Ser258Arg)
c.1569T>G (p.Ser523Arg)
c.1323T>G (p.Ser441Arg)
9g.89348136C>ACA373989183SECISBP2c.1660C>A (p.Pro554Thr)
c.1441C>A (p.Pro481Thr)
c.1456C>A (p.Pro486Thr)
c.1657C>A (p.Pro553Thr)
c.1543C>A (p.Pro515Thr)
c.763C>A (p.Pro255Thr)
c.1366C>A (p.Pro456Thr)
c.1342C>A (p.Pro448Thr)
c.1339C>A (p.Pro447Thr)
n.1818C>A
c.1546C>A (p.Pro516Thr)
c.1453C>A (p.Pro485Thr)
c.775C>A (p.Pro259Thr)
c.1570C>A (p.Pro524Thr)
c.1324C>A (p.Pro442Thr)
9g.89348136C>GCA373989184SECISBP2c.1660C>G (p.Pro554Ala)
c.1441C>G (p.Pro481Ala)
c.1456C>G (p.Pro486Ala)
c.1657C>G (p.Pro553Ala)
c.1543C>G (p.Pro515Ala)
c.763C>G (p.Pro255Ala)
c.1366C>G (p.Pro456Ala)
c.1342C>G (p.Pro448Ala)
c.1339C>G (p.Pro447Ala)
n.1818C>G
c.1546C>G (p.Pro516Ala)
c.1453C>G (p.Pro485Ala)
c.775C>G (p.Pro259Ala)
c.1570C>G (p.Pro524Ala)
c.1324C>G (p.Pro442Ala)
9g.89348136C>TCA373989185SECISBP2c.1660C>T (p.Pro554Ser)
c.1441C>T (p.Pro481Ser)
c.1456C>T (p.Pro486Ser)
c.1657C>T (p.Pro553Ser)
c.1543C>T (p.Pro515Ser)
c.763C>T (p.Pro255Ser)
c.1366C>T (p.Pro456Ser)
c.1342C>T (p.Pro448Ser)
c.1339C>T (p.Pro447Ser)
n.1818C>T
c.1546C>T (p.Pro516Ser)
c.1453C>T (p.Pro485Ser)
c.775C>T (p.Pro259Ser)
c.1570C>T (p.Pro524Ser)
c.1324C>T (p.Pro442Ser)
9g.89348137C>ACA373989186SECISBP2c.1661C>A (p.Pro554Gln)
c.1442C>A (p.Pro481Gln)
c.1457C>A (p.Pro486Gln)
c.1658C>A (p.Pro553Gln)
c.1544C>A (p.Pro515Gln)
c.764C>A (p.Pro255Gln)
c.1367C>A (p.Pro456Gln)
c.1343C>A (p.Pro448Gln)
c.1340C>A (p.Pro447Gln)
n.1819C>A
c.1547C>A (p.Pro516Gln)
c.1454C>A (p.Pro485Gln)
c.776C>A (p.Pro259Gln)
c.1571C>A (p.Pro524Gln)
c.1325C>A (p.Pro442Gln)
9g.89348137C>GCA373989187SECISBP2c.1661C>G (p.Pro554Arg)
c.1442C>G (p.Pro481Arg)
c.1457C>G (p.Pro486Arg)
c.1658C>G (p.Pro553Arg)
c.1544C>G (p.Pro515Arg)
c.764C>G (p.Pro255Arg)
c.1367C>G (p.Pro456Arg)
c.1343C>G (p.Pro448Arg)
c.1340C>G (p.Pro447Arg)
n.1819C>G
c.1547C>G (p.Pro516Arg)
c.1454C>G (p.Pro485Arg)
c.776C>G (p.Pro259Arg)
c.1571C>G (p.Pro524Arg)
c.1325C>G (p.Pro442Arg)
9g.89348137C>TCA373989188SECISBP2c.1661C>T (p.Pro554Leu)
c.1442C>T (p.Pro481Leu)
c.1457C>T (p.Pro486Leu)
c.1658C>T (p.Pro553Leu)
c.1544C>T (p.Pro515Leu)
c.764C>T (p.Pro255Leu)
c.1367C>T (p.Pro456Leu)
c.1343C>T (p.Pro448Leu)
c.1340C>T (p.Pro447Leu)
n.1819C>T
c.1547C>T (p.Pro516Leu)
c.1454C>T (p.Pro485Leu)
c.776C>T (p.Pro259Leu)
c.1571C>T (p.Pro524Leu)
c.1325C>T (p.Pro442Leu)
9g.89348138A=CA1862788014SECISBP2c.1662A= (p.Pro554=)
c.1443A= (p.Pro481=)
c.1458A= (p.Pro486=)
c.1659A= (p.Pro553=)
c.1545A= (p.Pro515=)
c.765A= (p.Pro255=)
c.1368A= (p.Pro456=)
c.1344A= (p.Pro448=)
c.1341A= (p.Pro447=)
n.1820A=
c.1548A= (p.Pro516=)
c.1455A= (p.Pro485=)
c.777A= (p.Pro259=)
c.1572A= (p.Pro524=)
c.1326A= (p.Pro442=)
9g.89348138A>CCA465790532SECISBP2c.1662A>C (p.Pro554=)
c.1443A>C (p.Pro481=)
c.1458A>C (p.Pro486=)
c.1659A>C (p.Pro553=)
c.1545A>C (p.Pro515=)
c.765A>C (p.Pro255=)
c.1368A>C (p.Pro456=)
c.1344A>C (p.Pro448=)
c.1341A>C (p.Pro447=)
n.1820A>C
c.1548A>C (p.Pro516=)
c.1455A>C (p.Pro485=)
c.777A>C (p.Pro259=)
c.1572A>C (p.Pro524=)
c.1326A>C (p.Pro442=)
9g.89348138A>GCA465790533SECISBP2c.1662A>G (p.Pro554=)
c.1443A>G (p.Pro481=)
c.1458A>G (p.Pro486=)
c.1659A>G (p.Pro553=)
c.1545A>G (p.Pro515=)
c.765A>G (p.Pro255=)
c.1368A>G (p.Pro456=)
c.1344A>G (p.Pro448=)
c.1341A>G (p.Pro447=)
n.1820A>G
c.1548A>G (p.Pro516=)
c.1455A>G (p.Pro485=)
c.777A>G (p.Pro259=)
c.1572A>G (p.Pro524=)
c.1326A>G (p.Pro442=)
 dbSNP
9g.89348138A>TCA465790534SECISBP2c.1662A>T (p.Pro554=)
c.1443A>T (p.Pro481=)
c.1458A>T (p.Pro486=)
c.1659A>T (p.Pro553=)
c.1545A>T (p.Pro515=)
c.765A>T (p.Pro255=)
c.1368A>T (p.Pro456=)
c.1344A>T (p.Pro448=)
c.1341A>T (p.Pro447=)
n.1820A>T
c.1548A>T (p.Pro516=)
c.1455A>T (p.Pro485=)
c.777A>T (p.Pro259=)
c.1572A>T (p.Pro524=)
c.1326A>T (p.Pro442=)
9g.89348139G>ACA373989189SECISBP2c.1663G>A (p.Ala555Thr)
c.1444G>A (p.Ala482Thr)
c.1459G>A (p.Ala487Thr)
c.1660G>A (p.Ala554Thr)
c.1546G>A (p.Ala516Thr)
c.766G>A (p.Ala256Thr)
c.1369G>A (p.Ala457Thr)
c.1345G>A (p.Ala449Thr)
c.1342G>A (p.Ala448Thr)
n.1821G>A
c.1549G>A (p.Ala517Thr)
c.1456G>A (p.Ala486Thr)
c.778G>A (p.Ala260Thr)
c.1573G>A (p.Ala525Thr)
c.1327G>A (p.Ala443Thr)
9g.89348139G>CCA373989190SECISBP2c.1663G>C (p.Ala555Pro)
c.1444G>C (p.Ala482Pro)
c.1459G>C (p.Ala487Pro)
c.1660G>C (p.Ala554Pro)
c.1546G>C (p.Ala516Pro)
c.766G>C (p.Ala256Pro)
c.1369G>C (p.Ala457Pro)
c.1345G>C (p.Ala449Pro)
c.1342G>C (p.Ala448Pro)
n.1821G>C
c.1549G>C (p.Ala517Pro)
c.1456G>C (p.Ala486Pro)
c.778G>C (p.Ala260Pro)
c.1573G>C (p.Ala525Pro)
c.1327G>C (p.Ala443Pro)
 gnomAD v4
9g.89348139G=CA1862788015SECISBP2c.1663G= (p.Ala555=)
c.1444G= (p.Ala482=)
c.1459G= (p.Ala487=)
c.1660G= (p.Ala554=)
c.1546G= (p.Ala516=)
c.766G= (p.Ala256=)
c.1369G= (p.Ala457=)
c.1345G= (p.Ala449=)
c.1342G= (p.Ala448=)
n.1821G=
c.1549G= (p.Ala517=)
c.1456G= (p.Ala486=)
c.778G= (p.Ala260=)
c.1573G= (p.Ala525=)
c.1327G= (p.Ala443=)
9g.89348139G>TCA5117525SECISBP2c.1663G>T (p.Ala555Ser)
c.1444G>T (p.Ala482Ser)
c.1459G>T (p.Ala487Ser)
c.1660G>T (p.Ala554Ser)
c.1546G>T (p.Ala516Ser)
c.766G>T (p.Ala256Ser)
c.1369G>T (p.Ala457Ser)
c.1345G>T (p.Ala449Ser)
c.1342G>T (p.Ala448Ser)
n.1821G>T
c.1549G>T (p.Ala517Ser)
c.1456G>T (p.Ala486Ser)
c.778G>T (p.Ala260Ser)
c.1573G>T (p.Ala525Ser)
c.1327G>T (p.Ala443Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.89348139_89348146delinsGCTTTTACCA1862788017SECISBP2c.1663_1670delinsGCTTTTAC (p.Ala555=)
c.1444_1451delinsGCTTTTAC (p.Ala482=)
c.1459_1466delinsGCTTTTAC (p.Ala487=)
c.1660_1667delinsGCTTTTAC (p.Ala554=)
c.1546_1553delinsGCTTTTAC (p.Ala516=)
c.766_773delinsGCTTTTAC (p.Ala256=)
c.1369_1376delinsGCTTTTAC (p.Ala457=)
c.1345_1352delinsGCTTTTAC (p.Ala449=)
c.1342_1349delinsGCTTTTAC (p.Ala448=)
n.1821_1828delinsGCTTTTAC
c.1549_1556delinsGCTTTTAC (p.Ala517=)
c.1456_1463delinsGCTTTTAC (p.Ala486=)
c.778_785delinsGCTTTTAC (p.Ala260=)
c.1573_1580delinsGCTTTTAC (p.Ala525=)
c.1327_1334delinsGCTTTTAC (p.Ala443=)
9g.89348140C>ACA373989192SECISBP2c.1664C>A (p.Ala555Asp)
c.1445C>A (p.Ala482Asp)
c.1460C>A (p.Ala487Asp)
c.1661C>A (p.Ala554Asp)
c.1547C>A (p.Ala516Asp)
c.767C>A (p.Ala256Asp)
c.1370C>A (p.Ala457Asp)
c.1346C>A (p.Ala449Asp)
c.1343C>A (p.Ala448Asp)
n.1822C>A
c.1550C>A (p.Ala517Asp)
c.1457C>A (p.Ala486Asp)
c.779C>A (p.Ala260Asp)
c.1574C>A (p.Ala525Asp)
c.1328C>A (p.Ala443Asp)
9g.89348140C>GCA373989193SECISBP2c.1664C>G (p.Ala555Gly)
c.1445C>G (p.Ala482Gly)
c.1460C>G (p.Ala487Gly)
c.1661C>G (p.Ala554Gly)
c.1547C>G (p.Ala516Gly)
c.767C>G (p.Ala256Gly)
c.1370C>G (p.Ala457Gly)
c.1346C>G (p.Ala449Gly)
c.1343C>G (p.Ala448Gly)
n.1822C>G
c.1550C>G (p.Ala517Gly)
c.1457C>G (p.Ala486Gly)
c.779C>G (p.Ala260Gly)
c.1574C>G (p.Ala525Gly)
c.1328C>G (p.Ala443Gly)
9g.89348140C>TCA373989191SECISBP2c.1664C>T (p.Ala555Val)
c.1445C>T (p.Ala482Val)
c.1460C>T (p.Ala487Val)
c.1661C>T (p.Ala554Val)
c.1547C>T (p.Ala516Val)
c.767C>T (p.Ala256Val)
c.1370C>T (p.Ala457Val)
c.1346C>T (p.Ala449Val)
c.1343C>T (p.Ala448Val)
n.1822C>T
c.1550C>T (p.Ala517Val)
c.1457C>T (p.Ala486Val)
c.779C>T (p.Ala260Val)
c.1574C>T (p.Ala525Val)
c.1328C>T (p.Ala443Val)
9g.89348141_89348147delCA1862788018SECISBP2c.1665_1671del (p.Phe556ValfsTer?)
c.1446_1452del (p.Phe483ValfsTer?)
c.1461_1467del (p.Phe488ValfsTer?)
c.1662_1668del (p.Phe555ValfsTer?)
c.1548_1554del (p.Phe517ValfsTer?)
c.768_774del (p.Phe257ValfsTer?)
c.1371_1377del (p.Phe458ValfsTer?)
c.1347_1353del (p.Phe450ValfsTer?)
c.1344_1350del (p.Phe449ValfsTer?)
n.1823_1829del
c.1551_1557del (p.Phe518ValfsTer?)
c.1458_1464del (p.Phe487ValfsTer?)
c.780_786del (p.Phe261ValfsTer?)
c.1575_1581del (p.Phe526ValfsTer?)
c.1329_1335del (p.Phe444ValfsTer?)
 dbSNP
9g.89348141T>ACA465790535SECISBP2c.1665T>A (p.Ala555=)
c.1446T>A (p.Ala482=)
c.1461T>A (p.Ala487=)
c.1662T>A (p.Ala554=)
c.1548T>A (p.Ala516=)
c.768T>A (p.Ala256=)
c.1371T>A (p.Ala457=)
c.1347T>A (p.Ala449=)
c.1344T>A (p.Ala448=)
n.1823T>A
c.1551T>A (p.Ala517=)
c.1458T>A (p.Ala486=)
c.780T>A (p.Ala260=)
c.1575T>A (p.Ala525=)
c.1329T>A (p.Ala443=)
9g.89348141T>CCA465790536SECISBP2c.1665T>C (p.Ala555=)
c.1446T>C (p.Ala482=)
c.1461T>C (p.Ala487=)
c.1662T>C (p.Ala554=)
c.1548T>C (p.Ala516=)
c.768T>C (p.Ala256=)
c.1371T>C (p.Ala457=)
c.1347T>C (p.Ala449=)
c.1344T>C (p.Ala448=)
n.1823T>C
c.1551T>C (p.Ala517=)
c.1458T>C (p.Ala486=)
c.780T>C (p.Ala260=)
c.1575T>C (p.Ala525=)
c.1329T>C (p.Ala443=)
9g.89348141T>GCA465790537SECISBP2c.1665T>G (p.Ala555=)
c.1446T>G (p.Ala482=)
c.1461T>G (p.Ala487=)
c.1662T>G (p.Ala554=)
c.1548T>G (p.Ala516=)
c.768T>G (p.Ala256=)
c.1371T>G (p.Ala457=)
c.1347T>G (p.Ala449=)
c.1344T>G (p.Ala448=)
n.1823T>G
c.1551T>G (p.Ala517=)
c.1458T>G (p.Ala486=)
c.780T>G (p.Ala260=)
c.1575T>G (p.Ala525=)
c.1329T>G (p.Ala443=)
9g.89348142T>ACA373989194SECISBP2c.1666T>A (p.Phe556Ile)
c.1447T>A (p.Phe483Ile)
c.1462T>A (p.Phe488Ile)
c.1663T>A (p.Phe555Ile)
c.1549T>A (p.Phe517Ile)
c.769T>A (p.Phe257Ile)
c.1372T>A (p.Phe458Ile)
c.1348T>A (p.Phe450Ile)
c.1345T>A (p.Phe449Ile)
n.1824T>A
c.1552T>A (p.Phe518Ile)
c.1459T>A (p.Phe487Ile)
c.781T>A (p.Phe261Ile)
c.1576T>A (p.Phe526Ile)
c.1330T>A (p.Phe444Ile)
9g.89348142T>CCA373989195SECISBP2c.1666T>C (p.Phe556Leu)
c.1447T>C (p.Phe483Leu)
c.1462T>C (p.Phe488Leu)
c.1663T>C (p.Phe555Leu)
c.1549T>C (p.Phe517Leu)
c.769T>C (p.Phe257Leu)
c.1372T>C (p.Phe458Leu)
c.1348T>C (p.Phe450Leu)
c.1345T>C (p.Phe449Leu)
n.1824T>C
c.1552T>C (p.Phe518Leu)
c.1459T>C (p.Phe487Leu)
c.781T>C (p.Phe261Leu)
c.1576T>C (p.Phe526Leu)
c.1330T>C (p.Phe444Leu)
9g.89348142T>GCA195694388SECISBP2c.1666T>G (p.Phe556Val)
c.1447T>G (p.Phe483Val)
c.1462T>G (p.Phe488Val)
c.1663T>G (p.Phe555Val)
c.1549T>G (p.Phe517Val)
c.769T>G (p.Phe257Val)
c.1372T>G (p.Phe458Val)
c.1348T>G (p.Phe450Val)
c.1345T>G (p.Phe449Val)
n.1824T>G
c.1552T>G (p.Phe518Val)
c.1459T>G (p.Phe487Val)
c.781T>G (p.Phe261Val)
c.1576T>G (p.Phe526Val)
c.1330T>G (p.Phe444Val)
 dbSNP gnomAD v3 gnomAD v4
9g.89348142T=CA1862788021SECISBP2c.1666T= (p.Phe556=)
c.1447T= (p.Phe483=)
c.1462T= (p.Phe488=)
c.1663T= (p.Phe555=)
c.1549T= (p.Phe517=)
c.769T= (p.Phe257=)
c.1372T= (p.Phe458=)
c.1348T= (p.Phe450=)
c.1345T= (p.Phe449=)
n.1824T=
c.1552T= (p.Phe518=)
c.1459T= (p.Phe487=)
c.781T= (p.Phe261=)
c.1576T= (p.Phe526=)
c.1330T= (p.Phe444=)
9g.89348143T>ACA373989196SECISBP2c.1667T>A (p.Phe556Tyr)
c.1448T>A (p.Phe483Tyr)
c.1463T>A (p.Phe488Tyr)
c.1664T>A (p.Phe555Tyr)
c.1550T>A (p.Phe517Tyr)
c.770T>A (p.Phe257Tyr)
c.1373T>A (p.Phe458Tyr)
c.1349T>A (p.Phe450Tyr)
c.1346T>A (p.Phe449Tyr)
n.1825T>A
c.1553T>A (p.Phe518Tyr)
c.1460T>A (p.Phe487Tyr)
c.782T>A (p.Phe261Tyr)
c.1577T>A (p.Phe526Tyr)
c.1331T>A (p.Phe444Tyr)
9g.89348143T>CCA373989197SECISBP2c.1667T>C (p.Phe556Ser)
c.1448T>C (p.Phe483Ser)
c.1463T>C (p.Phe488Ser)
c.1664T>C (p.Phe555Ser)
c.1550T>C (p.Phe517Ser)
c.770T>C (p.Phe257Ser)
c.1373T>C (p.Phe458Ser)
c.1349T>C (p.Phe450Ser)
c.1346T>C (p.Phe449Ser)
n.1825T>C
c.1553T>C (p.Phe518Ser)
c.1460T>C (p.Phe487Ser)
c.782T>C (p.Phe261Ser)
c.1577T>C (p.Phe526Ser)
c.1331T>C (p.Phe444Ser)
9g.89348143T>GCA373989198SECISBP2c.1667T>G (p.Phe556Cys)
c.1448T>G (p.Phe483Cys)
c.1463T>G (p.Phe488Cys)
c.1664T>G (p.Phe555Cys)
c.1550T>G (p.Phe517Cys)
c.770T>G (p.Phe257Cys)
c.1373T>G (p.Phe458Cys)
c.1349T>G (p.Phe450Cys)
c.1346T>G (p.Phe449Cys)
n.1825T>G
c.1553T>G (p.Phe518Cys)
c.1460T>G (p.Phe487Cys)
c.782T>G (p.Phe261Cys)
c.1577T>G (p.Phe526Cys)
c.1331T>G (p.Phe444Cys)
9g.89348144T>ACA373989200SECISBP2c.1668T>A (p.Phe556Leu)
c.1449T>A (p.Phe483Leu)
c.1464T>A (p.Phe488Leu)
c.1665T>A (p.Phe555Leu)
c.1551T>A (p.Phe517Leu)
c.771T>A (p.Phe257Leu)
c.1374T>A (p.Phe458Leu)
c.1350T>A (p.Phe450Leu)
c.1347T>A (p.Phe449Leu)
n.1826T>A
c.1554T>A (p.Phe518Leu)
c.1461T>A (p.Phe487Leu)
c.783T>A (p.Phe261Leu)
c.1578T>A (p.Phe526Leu)
c.1332T>A (p.Phe444Leu)
 gnomAD v4
9g.89348144T>CCA465790539SECISBP2c.1668T>C (p.Phe556=)
c.1449T>C (p.Phe483=)
c.1464T>C (p.Phe488=)
c.1665T>C (p.Phe555=)
c.1551T>C (p.Phe517=)
c.771T>C (p.Phe257=)
c.1374T>C (p.Phe458=)
c.1350T>C (p.Phe450=)
c.1347T>C (p.Phe449=)
n.1826T>C
c.1554T>C (p.Phe518=)
c.1461T>C (p.Phe487=)
c.783T>C (p.Phe261=)
c.1578T>C (p.Phe526=)
c.1332T>C (p.Phe444=)
 dbSNP gnomAD v3 gnomAD v4
9g.89348144T>GCA373989199SECISBP2c.1668T>G (p.Phe556Leu)
c.1449T>G (p.Phe483Leu)
c.1464T>G (p.Phe488Leu)
c.1665T>G (p.Phe555Leu)
c.1551T>G (p.Phe517Leu)
c.771T>G (p.Phe257Leu)
c.1374T>G (p.Phe458Leu)
c.1350T>G (p.Phe450Leu)
c.1347T>G (p.Phe449Leu)
n.1826T>G
c.1554T>G (p.Phe518Leu)
c.1461T>G (p.Phe487Leu)
c.783T>G (p.Phe261Leu)
c.1578T>G (p.Phe526Leu)
c.1332T>G (p.Phe444Leu)
9g.89348144T=CA1862788026SECISBP2c.1668T= (p.Phe556=)
c.1449T= (p.Phe483=)
c.1464T= (p.Phe488=)
c.1665T= (p.Phe555=)
c.1551T= (p.Phe517=)
c.771T= (p.Phe257=)
c.1374T= (p.Phe458=)
c.1350T= (p.Phe450=)
c.1347T= (p.Phe449=)
n.1826T=
c.1554T= (p.Phe518=)
c.1461T= (p.Phe487=)
c.783T= (p.Phe261=)
c.1578T= (p.Phe526=)
c.1332T= (p.Phe444=)
9g.89348145A>CCA373989201SECISBP2c.1669A>C (p.Thr557Pro)
c.1450A>C (p.Thr484Pro)
c.1465A>C (p.Thr489Pro)
c.1666A>C (p.Thr556Pro)
c.1552A>C (p.Thr518Pro)
c.772A>C (p.Thr258Pro)
c.1375A>C (p.Thr459Pro)
c.1351A>C (p.Thr451Pro)
c.1348A>C (p.Thr450Pro)
n.1827A>C
c.1555A>C (p.Thr519Pro)
c.1462A>C (p.Thr488Pro)
c.784A>C (p.Thr262Pro)
c.1579A>C (p.Thr527Pro)
c.1333A>C (p.Thr445Pro)
9g.89348145A>GCA373989202SECISBP2c.1669A>G (p.Thr557Ala)
c.1450A>G (p.Thr484Ala)
c.1465A>G (p.Thr489Ala)
c.1666A>G (p.Thr556Ala)
c.1552A>G (p.Thr518Ala)
c.772A>G (p.Thr258Ala)
c.1375A>G (p.Thr459Ala)
c.1351A>G (p.Thr451Ala)
c.1348A>G (p.Thr450Ala)
n.1827A>G
c.1555A>G (p.Thr519Ala)
c.1462A>G (p.Thr488Ala)
c.784A>G (p.Thr262Ala)
c.1579A>G (p.Thr527Ala)
c.1333A>G (p.Thr445Ala)
9g.89348145A>TCA373989203SECISBP2c.1669A>T (p.Thr557Ser)
c.1450A>T (p.Thr484Ser)
c.1465A>T (p.Thr489Ser)
c.1666A>T (p.Thr556Ser)
c.1552A>T (p.Thr518Ser)
c.772A>T (p.Thr258Ser)
c.1375A>T (p.Thr459Ser)
c.1351A>T (p.Thr451Ser)
c.1348A>T (p.Thr450Ser)
n.1827A>T
c.1555A>T (p.Thr519Ser)
c.1462A>T (p.Thr488Ser)
c.784A>T (p.Thr262Ser)
c.1579A>T (p.Thr527Ser)
c.1333A>T (p.Thr445Ser)
9g.89348146C>ACA373989204SECISBP2c.1670C>A (p.Thr557Asn)
c.1451C>A (p.Thr484Asn)
c.1466C>A (p.Thr489Asn)
c.1667C>A (p.Thr556Asn)
c.1553C>A (p.Thr518Asn)
c.773C>A (p.Thr258Asn)
c.1376C>A (p.Thr459Asn)
c.1352C>A (p.Thr451Asn)
c.1349C>A (p.Thr450Asn)
n.1828C>A
c.1556C>A (p.Thr519Asn)
c.1463C>A (p.Thr488Asn)
c.785C>A (p.Thr262Asn)
c.1580C>A (p.Thr527Asn)
c.1334C>A (p.Thr445Asn)
9g.89348146C=CA1862788032SECISBP2c.1670C= (p.Thr557=)
c.1451C= (p.Thr484=)
c.1466C= (p.Thr489=)
c.1667C= (p.Thr556=)
c.1553C= (p.Thr518=)
c.773C= (p.Thr258=)
c.1376C= (p.Thr459=)
c.1352C= (p.Thr451=)
c.1349C= (p.Thr450=)
n.1828C=
c.1556C= (p.Thr519=)
c.1463C= (p.Thr488=)
c.785C= (p.Thr262=)
c.1580C= (p.Thr527=)
c.1334C= (p.Thr445=)
9g.89348146C>GCA5117526SECISBP2c.1670C>G (p.Thr557Ser)
c.1451C>G (p.Thr484Ser)
c.1466C>G (p.Thr489Ser)
c.1667C>G (p.Thr556Ser)
c.1553C>G (p.Thr518Ser)
c.773C>G (p.Thr258Ser)
c.1376C>G (p.Thr459Ser)
c.1352C>G (p.Thr451Ser)
c.1349C>G (p.Thr450Ser)
n.1828C>G
c.1556C>G (p.Thr519Ser)
c.1463C>G (p.Thr488Ser)
c.785C>G (p.Thr262Ser)
c.1580C>G (p.Thr527Ser)
c.1334C>G (p.Thr445Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.89348146C>TCA373989205SECISBP2c.1670C>T (p.Thr557Ile)
c.1451C>T (p.Thr484Ile)
c.1466C>T (p.Thr489Ile)
c.1667C>T (p.Thr556Ile)
c.1553C>T (p.Thr518Ile)
c.773C>T (p.Thr258Ile)
c.1376C>T (p.Thr459Ile)
c.1352C>T (p.Thr451Ile)
c.1349C>T (p.Thr450Ile)
n.1828C>T
c.1556C>T (p.Thr519Ile)
c.1463C>T (p.Thr488Ile)
c.785C>T (p.Thr262Ile)
c.1580C>T (p.Thr527Ile)
c.1334C>T (p.Thr445Ile)
9g.89348146_89348147dupCA2690590476SECISBP2c.1670_1671dup (p.Ser558ProfsTer?)
c.1451_1452dup (p.Ser485ProfsTer?)
c.1466_1467dup (p.Ser490ProfsTer?)
c.1667_1668dup (p.Ser557ProfsTer?)
c.1553_1554dup (p.Ser519ProfsTer?)
c.773_774dup (p.Ser259ProfsTer?)
c.1376_1377dup (p.Ser460ProfsTer?)
c.1352_1353dup (p.Ser452ProfsTer?)
c.1349_1350dup (p.Ser451ProfsTer?)
n.1828_1829dup
c.1556_1557dup (p.Ser520ProfsTer?)
c.1463_1464dup (p.Ser489ProfsTer?)
c.785_786dup (p.Ser263ProfsTer?)
c.1580_1581dup (p.Ser528ProfsTer?)
c.1334_1335dup (p.Ser446ProfsTer?)
 gnomAD v4
9g.89348147C>ACA465790542SECISBP2c.1671C>A (p.Thr557=)
c.1452C>A (p.Thr484=)
c.1467C>A (p.Thr489=)
c.1668C>A (p.Thr556=)
c.1554C>A (p.Thr518=)
c.774C>A (p.Thr258=)
c.1377C>A (p.Thr459=)
c.1353C>A (p.Thr451=)
c.1350C>A (p.Thr450=)
n.1829C>A
c.1557C>A (p.Thr519=)
c.1464C>A (p.Thr488=)
c.786C>A (p.Thr262=)
c.1581C>A (p.Thr527=)
c.1335C>A (p.Thr445=)
9g.89348147C>GCA465790541SECISBP2c.1671C>G (p.Thr557=)
c.1452C>G (p.Thr484=)
c.1467C>G (p.Thr489=)
c.1668C>G (p.Thr556=)
c.1554C>G (p.Thr518=)
c.774C>G (p.Thr258=)
c.1377C>G (p.Thr459=)
c.1353C>G (p.Thr451=)
c.1350C>G (p.Thr450=)
n.1829C>G
c.1557C>G (p.Thr519=)
c.1464C>G (p.Thr488=)
c.786C>G (p.Thr262=)
c.1581C>G (p.Thr527=)
c.1335C>G (p.Thr445=)
9g.89348147C>TCA465790540SECISBP2c.1671C>T (p.Thr557=)
c.1452C>T (p.Thr484=)
c.1467C>T (p.Thr489=)
c.1668C>T (p.Thr556=)
c.1554C>T (p.Thr518=)
c.774C>T (p.Thr258=)
c.1377C>T (p.Thr459=)
c.1353C>T (p.Thr451=)
c.1350C>T (p.Thr450=)
n.1829C>T
c.1557C>T (p.Thr519=)
c.1464C>T (p.Thr488=)
c.786C>T (p.Thr262=)
c.1581C>T (p.Thr527=)
c.1335C>T (p.Thr445=)
 gnomAD v4
9g.89348147_89348148delCA2690590484SECISBP2c.1671_1672del (p.Ser558Ter)
c.1452_1453del (p.Ser485Ter)
c.1467_1468del (p.Ser490Ter)
c.1668_1669del (p.Ser557Ter)
c.1554_1555del (p.Ser519Ter)
c.774_775del (p.Ser259Ter)
c.1377_1378del (p.Ser460Ter)
c.1353_1354del (p.Ser452Ter)
c.1350_1351del (p.Ser451Ter)
n.1829_1830del
c.1557_1558del (p.Ser520Ter)
c.1464_1465del (p.Ser489Ter)
c.786_787del (p.Ser263Ter)
c.1581_1582del (p.Ser528Ter)
c.1335_1336del (p.Ser446Ter)
 gnomAD v4
9g.89348148A>CCA373989208SECISBP2c.1672A>C (p.Ser558Arg)
c.1453A>C (p.Ser485Arg)
n.1A>C
c.1468A>C (p.Ser490Arg)
c.1669A>C (p.Ser557Arg)
c.1555A>C (p.Ser519Arg)
c.775A>C (p.Ser259Arg)
c.1378A>C (p.Ser460Arg)
c.1354A>C (p.Ser452Arg)
c.1351A>C (p.Ser451Arg)
n.1830A>C
c.1558A>C (p.Ser520Arg)
c.1465A>C (p.Ser489Arg)
c.787A>C (p.Ser263Arg)
c.1582A>C (p.Ser528Arg)
c.1336A>C (p.Ser446Arg)
9g.89348148A>GCA373989206SECISBP2c.1672A>G (p.Ser558Gly)
c.1453A>G (p.Ser485Gly)
n.1A>G
c.1468A>G (p.Ser490Gly)
c.1669A>G (p.Ser557Gly)
c.1555A>G (p.Ser519Gly)
c.775A>G (p.Ser259Gly)
c.1378A>G (p.Ser460Gly)
c.1354A>G (p.Ser452Gly)
c.1351A>G (p.Ser451Gly)
n.1830A>G
c.1558A>G (p.Ser520Gly)
c.1465A>G (p.Ser489Gly)
c.787A>G (p.Ser263Gly)
c.1582A>G (p.Ser528Gly)
c.1336A>G (p.Ser446Gly)
9g.89348148A>TCA373989207SECISBP2c.1672A>T (p.Ser558Cys)
c.1453A>T (p.Ser485Cys)
n.1A>T
c.1468A>T (p.Ser490Cys)
c.1669A>T (p.Ser557Cys)
c.1555A>T (p.Ser519Cys)
c.775A>T (p.Ser259Cys)
c.1378A>T (p.Ser460Cys)
c.1354A>T (p.Ser452Cys)
c.1351A>T (p.Ser451Cys)
n.1830A>T
c.1558A>T (p.Ser520Cys)
c.1465A>T (p.Ser489Cys)
c.787A>T (p.Ser263Cys)
c.1582A>T (p.Ser528Cys)
c.1336A>T (p.Ser446Cys)
9g.89348149G>ACA373989209SECISBP2c.1673G>A (p.Ser558Asn)
c.1454G>A (p.Ser485Asn)
n.2G>A
c.1469G>A (p.Ser490Asn)
c.1670G>A (p.Ser557Asn)
c.1556G>A (p.Ser519Asn)
c.776G>A (p.Ser259Asn)
c.1379G>A (p.Ser460Asn)
c.1355G>A (p.Ser452Asn)
c.1352G>A (p.Ser451Asn)
n.1831G>A
c.1559G>A (p.Ser520Asn)
c.1466G>A (p.Ser489Asn)
c.788G>A (p.Ser263Asn)
c.1583G>A (p.Ser528Asn)
c.1337G>A (p.Ser446Asn)
 gnomAD v4
9g.89348149G>CCA373989210SECISBP2c.1673G>C (p.Ser558Thr)
c.1454G>C (p.Ser485Thr)
n.2G>C
c.1469G>C (p.Ser490Thr)
c.1670G>C (p.Ser557Thr)
c.1556G>C (p.Ser519Thr)
c.776G>C (p.Ser259Thr)
c.1379G>C (p.Ser460Thr)
c.1355G>C (p.Ser452Thr)
c.1352G>C (p.Ser451Thr)
n.1831G>C
c.1559G>C (p.Ser520Thr)
c.1466G>C (p.Ser489Thr)
c.788G>C (p.Ser263Thr)
c.1583G>C (p.Ser528Thr)
c.1337G>C (p.Ser446Thr)
9g.89348149G>TCA373989211SECISBP2c.1673G>T (p.Ser558Ile)
c.1454G>T (p.Ser485Ile)
n.2G>T
c.1469G>T (p.Ser490Ile)
c.1670G>T (p.Ser557Ile)
c.1556G>T (p.Ser519Ile)
c.776G>T (p.Ser259Ile)
c.1379G>T (p.Ser460Ile)
c.1355G>T (p.Ser452Ile)
c.1352G>T (p.Ser451Ile)
n.1831G>T
c.1559G>T (p.Ser520Ile)
c.1466G>T (p.Ser489Ile)
c.788G>T (p.Ser263Ile)
c.1583G>T (p.Ser528Ile)
c.1337G>T (p.Ser446Ile)
9g.89348150T>ACA373989212SECISBP2c.1674T>A (p.Ser558Arg)
c.1455T>A (p.Ser485Arg)
n.3T>A
c.1470T>A (p.Ser490Arg)
c.1671T>A (p.Ser557Arg)
c.1557T>A (p.Ser519Arg)
c.777T>A (p.Ser259Arg)
c.1380T>A (p.Ser460Arg)
c.1356T>A (p.Ser452Arg)
c.1353T>A (p.Ser451Arg)
n.1832T>A
c.1560T>A (p.Ser520Arg)
c.1467T>A (p.Ser489Arg)
c.789T>A (p.Ser263Arg)
c.1584T>A (p.Ser528Arg)
c.1338T>A (p.Ser446Arg)
9g.89348150T>CCA465790543SECISBP2c.1674T>C (p.Ser558=)
c.1455T>C (p.Ser485=)
n.3T>C
c.1470T>C (p.Ser490=)
c.1671T>C (p.Ser557=)
c.1557T>C (p.Ser519=)
c.777T>C (p.Ser259=)
c.1380T>C (p.Ser460=)
c.1356T>C (p.Ser452=)
c.1353T>C (p.Ser451=)
n.1832T>C
c.1560T>C (p.Ser520=)
c.1467T>C (p.Ser489=)
c.789T>C (p.Ser263=)
c.1584T>C (p.Ser528=)
c.1338T>C (p.Ser446=)
9g.89348150T>GCA373989213SECISBP2c.1674T>G (p.Ser558Arg)
c.1455T>G (p.Ser485Arg)
n.3T>G
c.1470T>G (p.Ser490Arg)
c.1671T>G (p.Ser557Arg)
c.1557T>G (p.Ser519Arg)
c.777T>G (p.Ser259Arg)
c.1380T>G (p.Ser460Arg)
c.1356T>G (p.Ser452Arg)
c.1353T>G (p.Ser451Arg)
n.1832T>G
c.1560T>G (p.Ser520Arg)
c.1467T>G (p.Ser489Arg)
c.789T>G (p.Ser263Arg)
c.1584T>G (p.Ser528Arg)
c.1338T>G (p.Ser446Arg)
9g.89348151G>ACA373989214SECISBP2c.1675G>A (p.Asp559Asn)
c.1456G>A (p.Asp486Asn)
n.4G>A
c.1471G>A (p.Asp491Asn)
c.1672G>A (p.Asp558Asn)
c.1558G>A (p.Asp520Asn)
c.778G>A (p.Asp260Asn)
c.1381G>A (p.Asp461Asn)
c.1357G>A (p.Asp453Asn)
c.1354G>A (p.Asp452Asn)
n.1833G>A
c.1561G>A (p.Asp521Asn)
c.1468G>A (p.Asp490Asn)
c.790G>A (p.Asp264Asn)
c.1585G>A (p.Asp529Asn)
c.1339G>A (p.Asp447Asn)
9g.89348151G>CCA373989215SECISBP2c.1675G>C (p.Asp559His)
c.1456G>C (p.Asp486His)
n.4G>C
c.1471G>C (p.Asp491His)
c.1672G>C (p.Asp558His)
c.1558G>C (p.Asp520His)
c.778G>C (p.Asp260His)
c.1381G>C (p.Asp461His)
c.1357G>C (p.Asp453His)
c.1354G>C (p.Asp452His)
n.1833G>C
c.1561G>C (p.Asp521His)
c.1468G>C (p.Asp490His)
c.790G>C (p.Asp264His)
c.1585G>C (p.Asp529His)
c.1339G>C (p.Asp447His)
9g.89348151G>TCA373989216SECISBP2c.1675G>T (p.Asp559Tyr)
c.1456G>T (p.Asp486Tyr)
n.4G>T
c.1471G>T (p.Asp491Tyr)
c.1672G>T (p.Asp558Tyr)
c.1558G>T (p.Asp520Tyr)
c.778G>T (p.Asp260Tyr)
c.1381G>T (p.Asp461Tyr)
c.1357G>T (p.Asp453Tyr)
c.1354G>T (p.Asp452Tyr)
n.1833G>T
c.1561G>T (p.Asp521Tyr)
c.1468G>T (p.Asp490Tyr)
c.790G>T (p.Asp264Tyr)
c.1585G>T (p.Asp529Tyr)
c.1339G>T (p.Asp447Tyr)
9g.89348152A=CA1862788038SECISBP2c.1676A= (p.Asp559=)
c.1457A= (p.Asp486=)
n.5A=
c.1472A= (p.Asp491=)
c.1673A= (p.Asp558=)
c.1559A= (p.Asp520=)
c.779A= (p.Asp260=)
c.1382A= (p.Asp461=)
c.1358A= (p.Asp453=)
c.1355A= (p.Asp452=)
n.1834A=
c.1562A= (p.Asp521=)
c.1469A= (p.Asp490=)
c.791A= (p.Asp264=)
c.1586A= (p.Asp529=)
c.1340A= (p.Asp447=)
9g.89348152A>CCA373989217SECISBP2c.1676A>C (p.Asp559Ala)
c.1457A>C (p.Asp486Ala)
n.5A>C
c.1472A>C (p.Asp491Ala)
c.1673A>C (p.Asp558Ala)
c.1559A>C (p.Asp520Ala)
c.779A>C (p.Asp260Ala)
c.1382A>C (p.Asp461Ala)
c.1358A>C (p.Asp453Ala)
c.1355A>C (p.Asp452Ala)
n.1834A>C
c.1562A>C (p.Asp521Ala)
c.1469A>C (p.Asp490Ala)
c.791A>C (p.Asp264Ala)
c.1586A>C (p.Asp529Ala)
c.1340A>C (p.Asp447Ala)
9g.89348152A>GCA373989218SECISBP2c.1676A>G (p.Asp559Gly)
c.1457A>G (p.Asp486Gly)
n.5A>G
c.1472A>G (p.Asp491Gly)
c.1673A>G (p.Asp558Gly)
c.1559A>G (p.Asp520Gly)
c.779A>G (p.Asp260Gly)
c.1382A>G (p.Asp461Gly)
c.1358A>G (p.Asp453Gly)
c.1355A>G (p.Asp452Gly)
n.1834A>G
c.1562A>G (p.Asp521Gly)
c.1469A>G (p.Asp490Gly)
c.791A>G (p.Asp264Gly)
c.1586A>G (p.Asp529Gly)
c.1340A>G (p.Asp447Gly)
 gnomAD v4
9g.89348152A>TCA373989219SECISBP2c.1676A>T (p.Asp559Val)
c.1457A>T (p.Asp486Val)
n.5A>T
c.1472A>T (p.Asp491Val)
c.1673A>T (p.Asp558Val)
c.1559A>T (p.Asp520Val)
c.779A>T (p.Asp260Val)
c.1382A>T (p.Asp461Val)
c.1358A>T (p.Asp453Val)
c.1355A>T (p.Asp452Val)
n.1834A>T
c.1562A>T (p.Asp521Val)
c.1469A>T (p.Asp490Val)
c.791A>T (p.Asp264Val)
c.1586A>T (p.Asp529Val)
c.1340A>T (p.Asp447Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.89348153T>ACA373989220SECISBP2c.1677T>A (p.Asp559Glu)
c.1458T>A (p.Asp486Glu)
n.6T>A
c.1473T>A (p.Asp491Glu)
c.1674T>A (p.Asp558Glu)
c.1560T>A (p.Asp520Glu)
c.780T>A (p.Asp260Glu)
c.1383T>A (p.Asp461Glu)
c.1359T>A (p.Asp453Glu)
c.1356T>A (p.Asp452Glu)
n.1835T>A
c.1563T>A (p.Asp521Glu)
c.1470T>A (p.Asp490Glu)
c.792T>A (p.Asp264Glu)
c.1587T>A (p.Asp529Glu)
c.1341T>A (p.Asp447Glu)
9g.89348153T>CCA465790544SECISBP2c.1677T>C (p.Asp559=)
c.1458T>C (p.Asp486=)
n.6T>C
c.1473T>C (p.Asp491=)
c.1674T>C (p.Asp558=)
c.1560T>C (p.Asp520=)
c.780T>C (p.Asp260=)
c.1383T>C (p.Asp461=)
c.1359T>C (p.Asp453=)
c.1356T>C (p.Asp452=)
n.1835T>C
c.1563T>C (p.Asp521=)
c.1470T>C (p.Asp490=)
c.792T>C (p.Asp264=)
c.1587T>C (p.Asp529=)
c.1341T>C (p.Asp447=)
 gnomAD v4
9g.89348153T>GCA373989221SECISBP2c.1677T>G (p.Asp559Glu)
c.1458T>G (p.Asp486Glu)
n.6T>G
c.1473T>G (p.Asp491Glu)
c.1674T>G (p.Asp558Glu)
c.1560T>G (p.Asp520Glu)
c.780T>G (p.Asp260Glu)
c.1383T>G (p.Asp461Glu)
c.1359T>G (p.Asp453Glu)
c.1356T>G (p.Asp452Glu)
n.1835T>G
c.1563T>G (p.Asp521Glu)
c.1470T>G (p.Asp490Glu)
c.792T>G (p.Asp264Glu)
c.1587T>G (p.Asp529Glu)
c.1341T>G (p.Asp447Glu)
 gnomAD v4
9g.89348154G>ACA373989222SECISBP2c.1678G>A (p.Asp560Asn)
c.1459G>A (p.Asp487Asn)
n.7G>A
c.1474G>A (p.Asp492Asn)
c.1675G>A (p.Asp559Asn)
c.1561G>A (p.Asp521Asn)
c.781G>A (p.Asp261Asn)
c.1384G>A (p.Asp462Asn)
c.1360G>A (p.Asp454Asn)
c.1357G>A (p.Asp453Asn)
n.1836G>A
c.1564G>A (p.Asp522Asn)
c.1471G>A (p.Asp491Asn)
c.793G>A (p.Asp265Asn)
c.1588G>A (p.Asp530Asn)
c.1342G>A (p.Asp448Asn)
9g.89348154G>CCA373989224SECISBP2c.1678G>C (p.Asp560His)
c.1459G>C (p.Asp487His)
n.7G>C
c.1474G>C (p.Asp492His)
c.1675G>C (p.Asp559His)
c.1561G>C (p.Asp521His)
c.781G>C (p.Asp261His)
c.1384G>C (p.Asp462His)
c.1360G>C (p.Asp454His)
c.1357G>C (p.Asp453His)
n.1836G>C
c.1564G>C (p.Asp522His)
c.1471G>C (p.Asp491His)
c.793G>C (p.Asp265His)
c.1588G>C (p.Asp530His)
c.1342G>C (p.Asp448His)
 gnomAD v4
9g.89348154G>TCA373989223SECISBP2c.1678G>T (p.Asp560Tyr)
c.1459G>T (p.Asp487Tyr)
n.7G>T
c.1474G>T (p.Asp492Tyr)
c.1675G>T (p.Asp559Tyr)
c.1561G>T (p.Asp521Tyr)
c.781G>T (p.Asp261Tyr)
c.1384G>T (p.Asp462Tyr)
c.1360G>T (p.Asp454Tyr)
c.1357G>T (p.Asp453Tyr)
n.1836G>T
c.1564G>T (p.Asp522Tyr)
c.1471G>T (p.Asp491Tyr)
c.793G>T (p.Asp265Tyr)
c.1588G>T (p.Asp530Tyr)
c.1342G>T (p.Asp448Tyr)
9g.89348155A>CCA373989225SECISBP2c.1679A>C (p.Asp560Ala)
c.1460A>C (p.Asp487Ala)
n.8A>C
c.1475A>C (p.Asp492Ala)
c.1676A>C (p.Asp559Ala)
c.1562A>C (p.Asp521Ala)
c.782A>C (p.Asp261Ala)
c.1385A>C (p.Asp462Ala)
c.1361A>C (p.Asp454Ala)
c.1358A>C (p.Asp453Ala)
n.1837A>C
c.1565A>C (p.Asp522Ala)
c.1472A>C (p.Asp491Ala)
c.794A>C (p.Asp265Ala)
c.1589A>C (p.Asp530Ala)
c.1343A>C (p.Asp448Ala)
9g.89348155A>GCA373989226SECISBP2c.1679A>G (p.Asp560Gly)
c.1460A>G (p.Asp487Gly)
n.8A>G
c.1475A>G (p.Asp492Gly)
c.1676A>G (p.Asp559Gly)
c.1562A>G (p.Asp521Gly)
c.782A>G (p.Asp261Gly)
c.1385A>G (p.Asp462Gly)
c.1361A>G (p.Asp454Gly)
c.1358A>G (p.Asp453Gly)
n.1837A>G
c.1565A>G (p.Asp522Gly)
c.1472A>G (p.Asp491Gly)
c.794A>G (p.Asp265Gly)
c.1589A>G (p.Asp530Gly)
c.1343A>G (p.Asp448Gly)
9g.89348155A>TCA373989227SECISBP2c.1679A>T (p.Asp560Val)
c.1460A>T (p.Asp487Val)
n.8A>T
c.1475A>T (p.Asp492Val)
c.1676A>T (p.Asp559Val)
c.1562A>T (p.Asp521Val)
c.782A>T (p.Asp261Val)
c.1385A>T (p.Asp462Val)
c.1361A>T (p.Asp454Val)
c.1358A>T (p.Asp453Val)
n.1837A>T
c.1565A>T (p.Asp522Val)
c.1472A>T (p.Asp491Val)
c.794A>T (p.Asp265Val)
c.1589A>T (p.Asp530Val)
c.1343A>T (p.Asp448Val)
9g.89348156C>ACA373989228SECISBP2c.1680C>A (p.Asp560Glu)
c.1461C>A (p.Asp487Glu)
n.9C>A
c.1476C>A (p.Asp492Glu)
c.1677C>A (p.Asp559Glu)
c.1563C>A (p.Asp521Glu)
c.783C>A (p.Asp261Glu)
c.1386C>A (p.Asp462Glu)
c.1362C>A (p.Asp454Glu)
c.1359C>A (p.Asp453Glu)
n.1838C>A
c.1566C>A (p.Asp522Glu)
c.1473C>A (p.Asp491Glu)
c.795C>A (p.Asp265Glu)
c.1590C>A (p.Asp530Glu)
c.1344C>A (p.Asp448Glu)
9g.89348156C=CA1862788065SECISBP2c.1680C= (p.Asp560=)
c.1461C= (p.Asp487=)
n.9C=
c.1476C= (p.Asp492=)
c.1677C= (p.Asp559=)
c.1563C= (p.Asp521=)
c.783C= (p.Asp261=)
c.1386C= (p.Asp462=)
c.1362C= (p.Asp454=)
c.1359C= (p.Asp453=)
n.1838C=
c.1566C= (p.Asp522=)
c.1473C= (p.Asp491=)
c.795C= (p.Asp265=)
c.1590C= (p.Asp530=)
c.1344C= (p.Asp448=)
9g.89348156C>GCA373989229SECISBP2c.1680C>G (p.Asp560Glu)
c.1461C>G (p.Asp487Glu)
n.9C>G
c.1476C>G (p.Asp492Glu)
c.1677C>G (p.Asp559Glu)
c.1563C>G (p.Asp521Glu)
c.783C>G (p.Asp261Glu)
c.1386C>G (p.Asp462Glu)
c.1362C>G (p.Asp454Glu)
c.1359C>G (p.Asp453Glu)
n.1838C>G
c.1566C>G (p.Asp522Glu)
c.1473C>G (p.Asp491Glu)
c.795C>G (p.Asp265Glu)
c.1590C>G (p.Asp530Glu)
c.1344C>G (p.Asp448Glu)
9g.89348156C>TCA5117527SECISBP2c.1680C>T (p.Asp560=)
c.1461C>T (p.Asp487=)
n.9C>T
c.1476C>T (p.Asp492=)
c.1677C>T (p.Asp559=)
c.1563C>T (p.Asp521=)
c.783C>T (p.Asp261=)
c.1386C>T (p.Asp462=)
c.1362C>T (p.Asp454=)
c.1359C>T (p.Asp453=)
n.1838C>T
c.1566C>T (p.Asp522=)
c.1473C>T (p.Asp491=)
c.795C>T (p.Asp265=)
c.1590C>T (p.Asp530=)
c.1344C>T (p.Asp448=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.89348157A=CA1862788076SECISBP2c.1681A= (p.Thr561=)
c.1462A= (p.Thr488=)
n.10A=
c.1477A= (p.Thr493=)
c.1678A= (p.Thr560=)
c.1564A= (p.Thr522=)
c.784A= (p.Thr262=)
c.1387A= (p.Thr463=)
c.1363A= (p.Thr455=)
c.1360A= (p.Thr454=)
n.1839A=
c.1567A= (p.Thr523=)
c.1474A= (p.Thr492=)
c.796A= (p.Thr266=)
c.1591A= (p.Thr531=)
c.1345A= (p.Thr449=)
9g.89348157A>CCA373989230SECISBP2c.1681A>C (p.Thr561Pro)
c.1462A>C (p.Thr488Pro)
n.10A>C
c.1477A>C (p.Thr493Pro)
c.1678A>C (p.Thr560Pro)
c.1564A>C (p.Thr522Pro)
c.784A>C (p.Thr262Pro)
c.1387A>C (p.Thr463Pro)
c.1363A>C (p.Thr455Pro)
c.1360A>C (p.Thr454Pro)
n.1839A>C
c.1567A>C (p.Thr523Pro)
c.1474A>C (p.Thr492Pro)
c.796A>C (p.Thr266Pro)
c.1591A>C (p.Thr531Pro)
c.1345A>C (p.Thr449Pro)
9g.89348157A>GCA5117529SECISBP2c.1681A>G (p.Thr561Ala)
c.1462A>G (p.Thr488Ala)
n.10A>G
c.1477A>G (p.Thr493Ala)
c.1678A>G (p.Thr560Ala)
c.1564A>G (p.Thr522Ala)
c.784A>G (p.Thr262Ala)
c.1387A>G (p.Thr463Ala)
c.1363A>G (p.Thr455Ala)
c.1360A>G (p.Thr454Ala)
n.1839A>G
c.1567A>G (p.Thr523Ala)
c.1474A>G (p.Thr492Ala)
c.796A>G (p.Thr266Ala)
c.1591A>G (p.Thr531Ala)
c.1345A>G (p.Thr449Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.89348157A>TCA5117528SECISBP2c.1681A>T (p.Thr561Ser)
c.1462A>T (p.Thr488Ser)
n.10A>T
c.1477A>T (p.Thr493Ser)
c.1678A>T (p.Thr560Ser)
c.1564A>T (p.Thr522Ser)
c.784A>T (p.Thr262Ser)
c.1387A>T (p.Thr463Ser)
c.1363A>T (p.Thr455Ser)
c.1360A>T (p.Thr454Ser)
n.1839A>T
c.1567A>T (p.Thr523Ser)
c.1474A>T (p.Thr492Ser)
c.796A>T (p.Thr266Ser)
c.1591A>T (p.Thr531Ser)
c.1345A>T (p.Thr449Ser)
 dbSNP ExAC gnomAD v2
9g.89348158C>ACA373989231SECISBP2c.1682C>A (p.Thr561Lys)
c.1463C>A (p.Thr488Lys)
n.11C>A
c.1478C>A (p.Thr493Lys)
c.1679C>A (p.Thr560Lys)
c.1565C>A (p.Thr522Lys)
c.785C>A (p.Thr262Lys)
c.1388C>A (p.Thr463Lys)
c.1364C>A (p.Thr455Lys)
c.1361C>A (p.Thr454Lys)
n.1840C>A
c.1568C>A (p.Thr523Lys)
c.1475C>A (p.Thr492Lys)
c.797C>A (p.Thr266Lys)
c.1592C>A (p.Thr531Lys)
c.1346C>A (p.Thr449Lys)
9g.89348158C=CA1862788082SECISBP2c.1682C= (p.Thr561=)
c.1463C= (p.Thr488=)
n.11C=
c.1478C= (p.Thr493=)
c.1679C= (p.Thr560=)
c.1565C= (p.Thr522=)
c.785C= (p.Thr262=)
c.1388C= (p.Thr463=)
c.1364C= (p.Thr455=)
c.1361C= (p.Thr454=)
n.1840C=
c.1568C= (p.Thr523=)
c.1475C= (p.Thr492=)
c.797C= (p.Thr266=)
c.1592C= (p.Thr531=)
c.1346C= (p.Thr449=)
9g.89348158C>GCA373989232SECISBP2c.1682C>G (p.Thr561Arg)
c.1463C>G (p.Thr488Arg)
n.11C>G
c.1478C>G (p.Thr493Arg)
c.1679C>G (p.Thr560Arg)
c.1565C>G (p.Thr522Arg)
c.785C>G (p.Thr262Arg)
c.1388C>G (p.Thr463Arg)
c.1364C>G (p.Thr455Arg)
c.1361C>G (p.Thr454Arg)
n.1840C>G
c.1568C>G (p.Thr523Arg)
c.1475C>G (p.Thr492Arg)
c.797C>G (p.Thr266Arg)
c.1592C>G (p.Thr531Arg)
c.1346C>G (p.Thr449Arg)
9g.89348158C>TCA373989233SECISBP2c.1682C>T (p.Thr561Ile)
c.1463C>T (p.Thr488Ile)
n.11C>T
c.1478C>T (p.Thr493Ile)
c.1679C>T (p.Thr560Ile)
c.1565C>T (p.Thr522Ile)
c.785C>T (p.Thr262Ile)
c.1388C>T (p.Thr463Ile)
c.1364C>T (p.Thr455Ile)
c.1361C>T (p.Thr454Ile)
n.1840C>T
c.1568C>T (p.Thr523Ile)
c.1475C>T (p.Thr492Ile)
c.797C>T (p.Thr266Ile)
c.1592C>T (p.Thr531Ile)
c.1346C>T (p.Thr449Ile)
 dbSNP gnomAD v4
9g.89348159A>CCA465790545SECISBP2c.1683A>C (p.Thr561=)
c.1464A>C (p.Thr488=)
n.12A>C
c.1479A>C (p.Thr493=)
c.1680A>C (p.Thr560=)
c.1566A>C (p.Thr522=)
c.786A>C (p.Thr262=)
c.1389A>C (p.Thr463=)
c.1365A>C (p.Thr455=)
c.1362A>C (p.Thr454=)
n.1841A>C
c.1569A>C (p.Thr523=)
c.1476A>C (p.Thr492=)
c.798A>C (p.Thr266=)
c.1593A>C (p.Thr531=)
c.1347A>C (p.Thr449=)
9g.89348159A>GCA465790546SECISBP2c.1683A>G (p.Thr561=)
c.1464A>G (p.Thr488=)
n.12A>G
c.1479A>G (p.Thr493=)
c.1680A>G (p.Thr560=)
c.1566A>G (p.Thr522=)
c.786A>G (p.Thr262=)
c.1389A>G (p.Thr463=)
c.1365A>G (p.Thr455=)
c.1362A>G (p.Thr454=)
n.1841A>G
c.1569A>G (p.Thr523=)
c.1476A>G (p.Thr492=)
c.798A>G (p.Thr266=)
c.1593A>G (p.Thr531=)
c.1347A>G (p.Thr449=)
9g.89348159A>TCA465790547SECISBP2c.1683A>T (p.Thr561=)
c.1464A>T (p.Thr488=)
n.12A>T
c.1479A>T (p.Thr493=)
c.1680A>T (p.Thr560=)
c.1566A>T (p.Thr522=)
c.786A>T (p.Thr262=)
c.1389A>T (p.Thr463=)
c.1365A>T (p.Thr455=)
c.1362A>T (p.Thr454=)
n.1841A>T
c.1569A>T (p.Thr523=)
c.1476A>T (p.Thr492=)
c.798A>T (p.Thr266=)
c.1593A>T (p.Thr531=)
c.1347A>T (p.Thr449=)
9g.89348160C>ACA373989235SECISBP2c.1684C>A (p.Gln562Lys)
c.1465C>A (p.Gln489Lys)
n.13C>A
c.1480C>A (p.Gln494Lys)
c.1681C>A (p.Gln561Lys)
c.1567C>A (p.Gln523Lys)
c.787C>A (p.Gln263Lys)
c.1390C>A (p.Gln464Lys)
c.1366C>A (p.Gln456Lys)
c.1363C>A (p.Gln455Lys)
n.1842C>A
c.1570C>A (p.Gln524Lys)
c.1477C>A (p.Gln493Lys)
c.799C>A (p.Gln267Lys)
c.1594C>A (p.Gln532Lys)
c.1348C>A (p.Gln450Lys)
 gnomAD v4
9g.89348160C=CA1862788085SECISBP2c.1684C= (p.Gln562=)
c.1465C= (p.Gln489=)
n.13C=
c.1480C= (p.Gln494=)
c.1681C= (p.Gln561=)
c.1567C= (p.Gln523=)
c.787C= (p.Gln263=)
c.1390C= (p.Gln464=)
c.1366C= (p.Gln456=)
c.1363C= (p.Gln455=)
n.1842C=
c.1570C= (p.Gln524=)
c.1477C= (p.Gln493=)
c.799C= (p.Gln267=)
c.1594C= (p.Gln532=)
c.1348C= (p.Gln450=)
9g.89348160C>GCA5117530SECISBP2c.1684C>G (p.Gln562Glu)
c.1465C>G (p.Gln489Glu)
n.13C>G
c.1480C>G (p.Gln494Glu)
c.1681C>G (p.Gln561Glu)
c.1567C>G (p.Gln523Glu)
c.787C>G (p.Gln263Glu)
c.1390C>G (p.Gln464Glu)
c.1366C>G (p.Gln456Glu)
c.1363C>G (p.Gln455Glu)
n.1842C>G
c.1570C>G (p.Gln524Glu)
c.1477C>G (p.Gln493Glu)
c.799C>G (p.Gln267Glu)
c.1594C>G (p.Gln532Glu)
c.1348C>G (p.Gln450Glu)
 dbSNP ExAC gnomAD v4
9g.89348160C>TCA373989234SECISBP2c.1684C>T (p.Gln562Ter)
c.1465C>T (p.Gln489Ter)
n.13C>T
c.1480C>T (p.Gln494Ter)
c.1681C>T (p.Gln561Ter)
c.1567C>T (p.Gln523Ter)
c.787C>T (p.Gln263Ter)
c.1390C>T (p.Gln464Ter)
c.1366C>T (p.Gln456Ter)
c.1363C>T (p.Gln455Ter)
n.1842C>T
c.1570C>T (p.Gln524Ter)
c.1477C>T (p.Gln493Ter)
c.799C>T (p.Gln267Ter)
c.1594C>T (p.Gln532Ter)
c.1348C>T (p.Gln450Ter)
 dbSNP gnomAD v3 gnomAD v4
9g.89348161A>CCA373989236SECISBP2c.1685A>C (p.Gln562Pro)
c.1466A>C (p.Gln489Pro)
n.14A>C
c.1481A>C (p.Gln494Pro)
c.1682A>C (p.Gln561Pro)
c.1568A>C (p.Gln523Pro)
c.788A>C (p.Gln263Pro)
c.1391A>C (p.Gln464Pro)
c.1367A>C (p.Gln456Pro)
c.1364A>C (p.Gln455Pro)
n.1843A>C
c.1571A>C (p.Gln524Pro)
c.1478A>C (p.Gln493Pro)
c.800A>C (p.Gln267Pro)
c.1595A>C (p.Gln532Pro)
c.1349A>C (p.Gln450Pro)
9g.89348161A>GCA373989237SECISBP2c.1685A>G (p.Gln562Arg)
c.1466A>G (p.Gln489Arg)
n.14A>G
c.1481A>G (p.Gln494Arg)
c.1682A>G (p.Gln561Arg)
c.1568A>G (p.Gln523Arg)
c.788A>G (p.Gln263Arg)
c.1391A>G (p.Gln464Arg)
c.1367A>G (p.Gln456Arg)
c.1364A>G (p.Gln455Arg)
n.1843A>G
c.1571A>G (p.Gln524Arg)
c.1478A>G (p.Gln493Arg)
c.800A>G (p.Gln267Arg)
c.1595A>G (p.Gln532Arg)
c.1349A>G (p.Gln450Arg)
 gnomAD v4
9g.89348161A>TCA373989238SECISBP2c.1685A>T (p.Gln562Leu)
c.1466A>T (p.Gln489Leu)
n.14A>T
c.1481A>T (p.Gln494Leu)
c.1682A>T (p.Gln561Leu)
c.1568A>T (p.Gln523Leu)
c.788A>T (p.Gln263Leu)
c.1391A>T (p.Gln464Leu)
c.1367A>T (p.Gln456Leu)
c.1364A>T (p.Gln455Leu)
n.1843A>T
c.1571A>T (p.Gln524Leu)
c.1478A>T (p.Gln493Leu)
c.800A>T (p.Gln267Leu)
c.1595A>T (p.Gln532Leu)
c.1349A>T (p.Gln450Leu)
9g.89348162A>CCA373989239SECISBP2c.1686A>C (p.Gln562His)
c.1467A>C (p.Gln489His)
n.15A>C
c.1482A>C (p.Gln494His)
c.1683A>C (p.Gln561His)
c.1569A>C (p.Gln523His)
c.789A>C (p.Gln263His)
c.1392A>C (p.Gln464His)
c.1368A>C (p.Gln456His)
c.1365A>C (p.Gln455His)
n.1844A>C
c.1572A>C (p.Gln524His)
c.1479A>C (p.Gln493His)
c.801A>C (p.Gln267His)
c.1596A>C (p.Gln532His)
c.1350A>C (p.Gln450His)
9g.89348162A>GCA465790548SECISBP2c.1686A>G (p.Gln562=)
c.1467A>G (p.Gln489=)
n.15A>G
c.1482A>G (p.Gln494=)
c.1683A>G (p.Gln561=)
c.1569A>G (p.Gln523=)
c.789A>G (p.Gln263=)
c.1392A>G (p.Gln464=)
c.1368A>G (p.Gln456=)
c.1365A>G (p.Gln455=)
n.1844A>G
c.1572A>G (p.Gln524=)
c.1479A>G (p.Gln493=)
c.801A>G (p.Gln267=)
c.1596A>G (p.Gln532=)
c.1350A>G (p.Gln450=)
9g.89348162A>TCA373989240SECISBP2c.1686A>T (p.Gln562His)
c.1467A>T (p.Gln489His)
n.15A>T
c.1482A>T (p.Gln494His)
c.1683A>T (p.Gln561His)
c.1569A>T (p.Gln523His)
c.789A>T (p.Gln263His)
c.1392A>T (p.Gln464His)
c.1368A>T (p.Gln456His)
c.1365A>T (p.Gln455His)
n.1844A>T
c.1572A>T (p.Gln524His)
c.1479A>T (p.Gln493His)
c.801A>T (p.Gln267His)
c.1596A>T (p.Gln532His)
c.1350A>T (p.Gln450His)
9g.89348165_89348170delCA2579376010SECISBP2c.1689_1694del (p.Asp563_Gly564del)
c.1470_1475del (p.Asp490_Gly491del)
n.18_23del
c.1485_1490del (p.Asp495_Gly496del)
c.1686_1691del (p.Asp562_Gly563del)
c.1572_1577del (p.Asp524_Gly525del)
c.792_797del (p.Asp264_Gly265del)
c.1395_1400del (p.Asp465_Gly466del)
c.1371_1376del (p.Asp457_Gly458del)
c.1368_1373del (p.Asp456_Gly457del)
n.1847_1852del
c.1575_1580del (p.Asp525_Gly526del)
c.1482_1487del (p.Asp494_Gly495del)
c.804_809del (p.Asp268_Gly269del)
c.1599_1604del (p.Asp533_Gly534del)
c.1353_1358del (p.Asp451_Gly452del)
 gnomAD v4
9g.89348163G>ACA373989243SECISBP2c.1687G>A (p.Asp563Asn)
c.1468G>A (p.Asp490Asn)
n.16G>A
c.1483G>A (p.Asp495Asn)
c.1684G>A (p.Asp562Asn)
c.1570G>A (p.Asp524Asn)
c.790G>A (p.Asp264Asn)
c.1393G>A (p.Asp465Asn)
c.1369G>A (p.Asp457Asn)
c.1366G>A (p.Asp456Asn)
n.1845G>A
c.1573G>A (p.Asp525Asn)
c.1480G>A (p.Asp494Asn)
c.802G>A (p.Asp268Asn)
c.1597G>A (p.Asp533Asn)
c.1351G>A (p.Asp451Asn)
9g.89348163G>CCA373989241SECISBP2c.1687G>C (p.Asp563His)
c.1468G>C (p.Asp490His)
n.16G>C
c.1483G>C (p.Asp495His)
c.1684G>C (p.Asp562His)
c.1570G>C (p.Asp524His)
c.790G>C (p.Asp264His)
c.1393G>C (p.Asp465His)
c.1369G>C (p.Asp457His)
c.1366G>C (p.Asp456His)
n.1845G>C
c.1573G>C (p.Asp525His)
c.1480G>C (p.Asp494His)
c.802G>C (p.Asp268His)
c.1597G>C (p.Asp533His)
c.1351G>C (p.Asp451His)
9g.89348163G>TCA373989242SECISBP2c.1687G>T (p.Asp563Tyr)
c.1468G>T (p.Asp490Tyr)
n.16G>T
c.1483G>T (p.Asp495Tyr)
c.1684G>T (p.Asp562Tyr)
c.1570G>T (p.Asp524Tyr)
c.790G>T (p.Asp264Tyr)
c.1393G>T (p.Asp465Tyr)
c.1369G>T (p.Asp457Tyr)
c.1366G>T (p.Asp456Tyr)
n.1845G>T
c.1573G>T (p.Asp525Tyr)
c.1480G>T (p.Asp494Tyr)
c.802G>T (p.Asp268Tyr)
c.1597G>T (p.Asp533Tyr)
c.1351G>T (p.Asp451Tyr)
9g.89348164A=CA1862788088SECISBP2c.1688A= (p.Asp563=)
c.1469A= (p.Asp490=)
n.17A=
c.1484A= (p.Asp495=)
c.1685A= (p.Asp562=)
c.1571A= (p.Asp524=)
c.791A= (p.Asp264=)
c.1394A= (p.Asp465=)
c.1370A= (p.Asp457=)
c.1367A= (p.Asp456=)
n.1846A=
c.1574A= (p.Asp525=)
c.1481A= (p.Asp494=)
c.803A= (p.Asp268=)
c.1598A= (p.Asp533=)
c.1352A= (p.Asp451=)
9g.89348164A>CCA373989244SECISBP2c.1688A>C (p.Asp563Ala)
c.1469A>C (p.Asp490Ala)
n.17A>C
c.1484A>C (p.Asp495Ala)
c.1685A>C (p.Asp562Ala)
c.1571A>C (p.Asp524Ala)
c.791A>C (p.Asp264Ala)
c.1394A>C (p.Asp465Ala)
c.1370A>C (p.Asp457Ala)
c.1367A>C (p.Asp456Ala)
n.1846A>C
c.1574A>C (p.Asp525Ala)
c.1481A>C (p.Asp494Ala)
c.803A>C (p.Asp268Ala)
c.1598A>C (p.Asp533Ala)
c.1352A>C (p.Asp451Ala)
9g.89348164A>GCA373989245SECISBP2c.1688A>G (p.Asp563Gly)
c.1469A>G (p.Asp490Gly)
n.17A>G
c.1484A>G (p.Asp495Gly)
c.1685A>G (p.Asp562Gly)
c.1571A>G (p.Asp524Gly)
c.791A>G (p.Asp264Gly)
c.1394A>G (p.Asp465Gly)
c.1370A>G (p.Asp457Gly)
c.1367A>G (p.Asp456Gly)
n.1846A>G
c.1574A>G (p.Asp525Gly)
c.1481A>G (p.Asp494Gly)
c.803A>G (p.Asp268Gly)
c.1598A>G (p.Asp533Gly)
c.1352A>G (p.Asp451Gly)
 dbSNP
9g.89348164A>TCA373989246SECISBP2c.1688A>T (p.Asp563Val)
c.1469A>T (p.Asp490Val)
n.17A>T
c.1484A>T (p.Asp495Val)
c.1685A>T (p.Asp562Val)
c.1571A>T (p.Asp524Val)
c.791A>T (p.Asp264Val)
c.1394A>T (p.Asp465Val)
c.1370A>T (p.Asp457Val)
c.1367A>T (p.Asp456Val)
n.1846A>T
c.1574A>T (p.Asp525Val)
c.1481A>T (p.Asp494Val)
c.803A>T (p.Asp268Val)
c.1598A>T (p.Asp533Val)
c.1352A>T (p.Asp451Val)
 gnomAD v4
9g.89348165T>ACA373989247SECISBP2c.1689T>A (p.Asp563Glu)
c.1470T>A (p.Asp490Glu)
n.18T>A
c.1485T>A (p.Asp495Glu)
c.1686T>A (p.Asp562Glu)
c.1572T>A (p.Asp524Glu)
c.792T>A (p.Asp264Glu)
c.1395T>A (p.Asp465Glu)
c.1371T>A (p.Asp457Glu)
c.1368T>A (p.Asp456Glu)
n.1847T>A
c.1575T>A (p.Asp525Glu)
c.1482T>A (p.Asp494Glu)
c.804T>A (p.Asp268Glu)
c.1599T>A (p.Asp533Glu)
c.1353T>A (p.Asp451Glu)
 gnomAD v4
9g.89348165T>CCA465790549SECISBP2c.1689T>C (p.Asp563=)
c.1470T>C (p.Asp490=)
n.18T>C
c.1485T>C (p.Asp495=)
c.1686T>C (p.Asp562=)
c.1572T>C (p.Asp524=)
c.792T>C (p.Asp264=)
c.1395T>C (p.Asp465=)
c.1371T>C (p.Asp457=)
c.1368T>C (p.Asp456=)
n.1847T>C
c.1575T>C (p.Asp525=)
c.1482T>C (p.Asp494=)
c.804T>C (p.Asp268=)
c.1599T>C (p.Asp533=)
c.1353T>C (p.Asp451=)
9g.89348165T>GCA373989248SECISBP2c.1689T>G (p.Asp563Glu)
c.1470T>G (p.Asp490Glu)
n.18T>G
c.1485T>G (p.Asp495Glu)
c.1686T>G (p.Asp562Glu)
c.1572T>G (p.Asp524Glu)
c.792T>G (p.Asp264Glu)
c.1395T>G (p.Asp465Glu)
c.1371T>G (p.Asp457Glu)
c.1368T>G (p.Asp456Glu)
n.1847T>G
c.1575T>G (p.Asp525Glu)
c.1482T>G (p.Asp494Glu)
c.804T>G (p.Asp268Glu)
c.1599T>G (p.Asp533Glu)
c.1353T>G (p.Asp451Glu)
9g.89348166G>ACA373989249SECISBP2c.1690G>A (p.Gly564Arg)
c.1471G>A (p.Gly491Arg)
n.19G>A
c.1486G>A (p.Gly496Arg)
c.1687G>A (p.Gly563Arg)
c.1573G>A (p.Gly525Arg)
c.793G>A (p.Gly265Arg)
c.1396G>A (p.Gly466Arg)
c.1372G>A (p.Gly458Arg)
c.1369G>A (p.Gly457Arg)
n.1848G>A
c.1576G>A (p.Gly526Arg)
c.1483G>A (p.Gly495Arg)
c.805G>A (p.Gly269Arg)
c.1600G>A (p.Gly534Arg)
c.1354G>A (p.Gly452Arg)
9g.89348166G>CCA373989251SECISBP2c.1690G>C (p.Gly564Arg)
c.1471G>C (p.Gly491Arg)
n.19G>C
c.1486G>C (p.Gly496Arg)
c.1687G>C (p.Gly563Arg)
c.1573G>C (p.Gly525Arg)
c.793G>C (p.Gly265Arg)
c.1396G>C (p.Gly466Arg)
c.1372G>C (p.Gly458Arg)
c.1369G>C (p.Gly457Arg)
n.1848G>C
c.1576G>C (p.Gly526Arg)
c.1483G>C (p.Gly495Arg)
c.805G>C (p.Gly269Arg)
c.1600G>C (p.Gly534Arg)
c.1354G>C (p.Gly452Arg)
9g.89348166G>TCA373989250SECISBP2c.1690G>T (p.Gly564Ter)
c.1471G>T (p.Gly491Ter)
n.19G>T
c.1486G>T (p.Gly496Ter)
c.1687G>T (p.Gly563Ter)
c.1573G>T (p.Gly525Ter)
c.793G>T (p.Gly265Ter)
c.1396G>T (p.Gly466Ter)
c.1372G>T (p.Gly458Ter)
c.1369G>T (p.Gly457Ter)
n.1848G>T
c.1576G>T (p.Gly526Ter)
c.1483G>T (p.Gly495Ter)
c.805G>T (p.Gly269Ter)
c.1600G>T (p.Gly534Ter)
c.1354G>T (p.Gly452Ter)
9g.89348166_89348168delinsGGACA1862788090SECISBP2c.1690_1692delinsGGA (p.Gly564=)
c.1471_1473delinsGGA (p.Gly491=)
n.19_21delinsGGA
c.1486_1488delinsGGA (p.Gly496=)
c.1687_1689delinsGGA (p.Gly563=)
c.1573_1575delinsGGA (p.Gly525=)
c.793_795delinsGGA (p.Gly265=)
c.1396_1398delinsGGA (p.Gly466=)
c.1372_1374delinsGGA (p.Gly458=)
c.1369_1371delinsGGA (p.Gly457=)
n.1848_1850delinsGGA
c.1576_1578delinsGGA (p.Gly526=)
c.1483_1485delinsGGA (p.Gly495=)
c.805_807delinsGGA (p.Gly269=)
c.1600_1602delinsGGA (p.Gly534=)
c.1354_1356delinsGGA (p.Gly452=)
9g.89348167G>ACA373989252SECISBP2c.1691G>A (p.Gly564Glu)
c.1472G>A (p.Gly491Glu)
n.20G>A
c.1487G>A (p.Gly496Glu)
c.1688G>A (p.Gly563Glu)
c.1574G>A (p.Gly525Glu)
c.794G>A (p.Gly265Glu)
c.1397G>A (p.Gly466Glu)
c.1373G>A (p.Gly458Glu)
c.1370G>A (p.Gly457Glu)
n.1849G>A
c.1577G>A (p.Gly526Glu)
c.1484G>A (p.Gly495Glu)
c.806G>A (p.Gly269Glu)
c.1601G>A (p.Gly534Glu)
c.1355G>A (p.Gly452Glu)
9g.89348167G>CCA373989253SECISBP2c.1691G>C (p.Gly564Ala)
c.1472G>C (p.Gly491Ala)
n.20G>C
c.1487G>C (p.Gly496Ala)
c.1688G>C (p.Gly563Ala)
c.1574G>C (p.Gly525Ala)
c.794G>C (p.Gly265Ala)
c.1397G>C (p.Gly466Ala)
c.1373G>C (p.Gly458Ala)
c.1370G>C (p.Gly457Ala)
n.1849G>C
c.1577G>C (p.Gly526Ala)
c.1484G>C (p.Gly495Ala)
c.806G>C (p.Gly269Ala)
c.1601G>C (p.Gly534Ala)
c.1355G>C (p.Gly452Ala)
9g.89348167G>TCA373989254SECISBP2c.1691G>T (p.Gly564Val)
c.1472G>T (p.Gly491Val)
n.20G>T
c.1487G>T (p.Gly496Val)
c.1688G>T (p.Gly563Val)
c.1574G>T (p.Gly525Val)
c.794G>T (p.Gly265Val)
c.1397G>T (p.Gly466Val)
c.1373G>T (p.Gly458Val)
c.1370G>T (p.Gly457Val)
n.1849G>T
c.1577G>T (p.Gly526Val)
c.1484G>T (p.Gly495Val)
c.806G>T (p.Gly269Val)
c.1601G>T (p.Gly534Val)
c.1355G>T (p.Gly452Val)
9g.89348172_89348173delCA5117531SECISBP2c.1696_1697del (p.Ser566TrpfsTer3)
c.1477_1478del (p.Ser493TrpfsTer3)
n.25_26del
c.1492_1493del (p.Ser498TrpfsTer3)
c.1693_1694del (p.Ser565TrpfsTer3)
c.1579_1580del (p.Ser527TrpfsTer3)
c.799_800del (p.Ser267TrpfsTer3)
c.1402_1403del (p.Ser468TrpfsTer3)
c.1378_1379del (p.Ser460TrpfsTer3)
c.1375_1376del (p.Ser459TrpfsTer3)
n.1854_1855del
c.1582_1583del (p.Ser528TrpfsTer3)
c.1489_1490del (p.Ser497TrpfsTer3)
c.811_812del (p.Ser271TrpfsTer3)
c.1606_1607del (p.Ser536TrpfsTer3)
c.1360_1361del (p.Ser454TrpfsTer3)
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.89348168A>CCA465790550SECISBP2c.1692A>C (p.Gly564=)
c.1473A>C (p.Gly491=)
n.21A>C
c.1488A>C (p.Gly496=)
c.1689A>C (p.Gly563=)
c.1575A>C (p.Gly525=)
c.795A>C (p.Gly265=)
c.1398A>C (p.Gly466=)
c.1374A>C (p.Gly458=)
c.1371A>C (p.Gly457=)
n.1850A>C
c.1578A>C (p.Gly526=)
c.1485A>C (p.Gly495=)
c.807A>C (p.Gly269=)
c.1602A>C (p.Gly534=)
c.1356A>C (p.Gly452=)
9g.89348168A>GCA465790551SECISBP2c.1692A>G (p.Gly564=)
c.1473A>G (p.Gly491=)
n.21A>G
c.1488A>G (p.Gly496=)
c.1689A>G (p.Gly563=)
c.1575A>G (p.Gly525=)
c.795A>G (p.Gly265=)
c.1398A>G (p.Gly466=)
c.1374A>G (p.Gly458=)
c.1371A>G (p.Gly457=)
n.1850A>G
c.1578A>G (p.Gly526=)
c.1485A>G (p.Gly495=)
c.807A>G (p.Gly269=)
c.1602A>G (p.Gly534=)
c.1356A>G (p.Gly452=)
9g.89348168A>TCA465790552SECISBP2c.1692A>T (p.Gly564=)
c.1473A>T (p.Gly491=)
n.21A>T
c.1488A>T (p.Gly496=)
c.1689A>T (p.Gly563=)
c.1575A>T (p.Gly525=)
c.795A>T (p.Gly265=)
c.1398A>T (p.Gly466=)
c.1374A>T (p.Gly458=)
c.1371A>T (p.Gly457=)
n.1850A>T
c.1578A>T (p.Gly526=)
c.1485A>T (p.Gly495=)
c.807A>T (p.Gly269=)
c.1602A>T (p.Gly534=)
c.1356A>T (p.Gly452=)
9g.89348169G>ACA373989255SECISBP2c.1693G>A (p.Glu565Lys)
c.1474G>A (p.Glu492Lys)
n.22G>A
c.1489G>A (p.Glu497Lys)
c.1690G>A (p.Glu564Lys)
c.1576G>A (p.Glu526Lys)
c.796G>A (p.Glu266Lys)
c.1399G>A (p.Glu467Lys)
c.1375G>A (p.Glu459Lys)
c.1372G>A (p.Glu458Lys)
n.1851G>A
c.1579G>A (p.Glu527Lys)
c.1486G>A (p.Glu496Lys)
c.808G>A (p.Glu270Lys)
c.1603G>A (p.Glu535Lys)
c.1357G>A (p.Glu453Lys)
9g.89348169G>CCA373989256SECISBP2c.1693G>C (p.Glu565Gln)
c.1474G>C (p.Glu492Gln)
n.22G>C
c.1489G>C (p.Glu497Gln)
c.1690G>C (p.Glu564Gln)
c.1576G>C (p.Glu526Gln)
c.796G>C (p.Glu266Gln)
c.1399G>C (p.Glu467Gln)
c.1375G>C (p.Glu459Gln)
c.1372G>C (p.Glu458Gln)
n.1851G>C
c.1579G>C (p.Glu527Gln)
c.1486G>C (p.Glu496Gln)
c.808G>C (p.Glu270Gln)
c.1603G>C (p.Glu535Gln)
c.1357G>C (p.Glu453Gln)
9g.89348169G>TCA373989257SECISBP2c.1693G>T (p.Glu565Ter)
c.1474G>T (p.Glu492Ter)
n.22G>T
c.1489G>T (p.Glu497Ter)
c.1690G>T (p.Glu564Ter)
c.1576G>T (p.Glu526Ter)
c.796G>T (p.Glu266Ter)
c.1399G>T (p.Glu467Ter)
c.1375G>T (p.Glu459Ter)
c.1372G>T (p.Glu458Ter)
n.1851G>T
c.1579G>T (p.Glu527Ter)
c.1486G>T (p.Glu496Ter)
c.808G>T (p.Glu270Ter)
c.1603G>T (p.Glu535Ter)
c.1357G>T (p.Glu453Ter)
9g.89348170A>CCA373989258SECISBP2c.1694A>C (p.Glu565Ala)
c.1475A>C (p.Glu492Ala)
n.23A>C
c.1490A>C (p.Glu497Ala)
c.1691A>C (p.Glu564Ala)
c.1577A>C (p.Glu526Ala)
c.797A>C (p.Glu266Ala)
c.1400A>C (p.Glu467Ala)
c.1376A>C (p.Glu459Ala)
c.1373A>C (p.Glu458Ala)
n.1852A>C
c.1580A>C (p.Glu527Ala)
c.1487A>C (p.Glu496Ala)
c.809A>C (p.Glu270Ala)
c.1604A>C (p.Glu535Ala)
c.1358A>C (p.Glu453Ala)
9g.89348170A>GCA373989259SECISBP2c.1694A>G (p.Glu565Gly)
c.1475A>G (p.Glu492Gly)
n.23A>G
c.1490A>G (p.Glu497Gly)
c.1691A>G (p.Glu564Gly)
c.1577A>G (p.Glu526Gly)
c.797A>G (p.Glu266Gly)
c.1400A>G (p.Glu467Gly)
c.1376A>G (p.Glu459Gly)
c.1373A>G (p.Glu458Gly)
n.1852A>G
c.1580A>G (p.Glu527Gly)
c.1487A>G (p.Glu496Gly)
c.809A>G (p.Glu270Gly)
c.1604A>G (p.Glu535Gly)
c.1358A>G (p.Glu453Gly)
 gnomAD v4
9g.89348170A>TCA373989260SECISBP2c.1694A>T (p.Glu565Val)
c.1475A>T (p.Glu492Val)
n.23A>T
c.1490A>T (p.Glu497Val)
c.1691A>T (p.Glu564Val)
c.1577A>T (p.Glu526Val)
c.797A>T (p.Glu266Val)
c.1400A>T (p.Glu467Val)
c.1376A>T (p.Glu459Val)
c.1373A>T (p.Glu458Val)
n.1852A>T
c.1580A>T (p.Glu527Val)
c.1487A>T (p.Glu496Val)
c.809A>T (p.Glu270Val)
c.1604A>T (p.Glu535Val)
c.1358A>T (p.Glu453Val)
9g.89348171G>ACA465790553SECISBP2c.1695G>A (p.Glu565=)
c.1476G>A (p.Glu492=)
n.24G>A
c.1491G>A (p.Glu497=)
c.1692G>A (p.Glu564=)
c.1578G>A (p.Glu526=)
c.798G>A (p.Glu266=)
c.1401G>A (p.Glu467=)
c.1377G>A (p.Glu459=)
c.1374G>A (p.Glu458=)
n.1853G>A
c.1581G>A (p.Glu527=)
c.1488G>A (p.Glu496=)
c.810G>A (p.Glu270=)
c.1605G>A (p.Glu535=)
c.1359G>A (p.Glu453=)
9g.89348171G>CCA373989261SECISBP2c.1695G>C (p.Glu565Asp)
c.1476G>C (p.Glu492Asp)
n.24G>C
c.1491G>C (p.Glu497Asp)
c.1692G>C (p.Glu564Asp)
c.1578G>C (p.Glu526Asp)
c.798G>C (p.Glu266Asp)
c.1401G>C (p.Glu467Asp)
c.1377G>C (p.Glu459Asp)
c.1374G>C (p.Glu458Asp)
n.1853G>C
c.1581G>C (p.Glu527Asp)
c.1488G>C (p.Glu496Asp)
c.810G>C (p.Glu270Asp)
c.1605G>C (p.Glu535Asp)
c.1359G>C (p.Glu453Asp)
9g.89348171G=CA1862788097SECISBP2c.1695G= (p.Glu565=)
c.1476G= (p.Glu492=)
n.24G=
c.1491G= (p.Glu497=)
c.1692G= (p.Glu564=)
c.1578G= (p.Glu526=)
c.798G= (p.Glu266=)
c.1401G= (p.Glu467=)
c.1377G= (p.Glu459=)
c.1374G= (p.Glu458=)
n.1853G=
c.1581G= (p.Glu527=)
c.1488G= (p.Glu496=)
c.810G= (p.Glu270=)
c.1605G= (p.Glu535=)
c.1359G= (p.Glu453=)
9g.89348171G>TCA195694412SECISBP2c.1695G>T (p.Glu565Asp)
c.1476G>T (p.Glu492Asp)
n.24G>T
c.1491G>T (p.Glu497Asp)
c.1692G>T (p.Glu564Asp)
c.1578G>T (p.Glu526Asp)
c.798G>T (p.Glu266Asp)
c.1401G>T (p.Glu467Asp)
c.1377G>T (p.Glu459Asp)
c.1374G>T (p.Glu458Asp)
n.1853G>T
c.1581G>T (p.Glu527Asp)
c.1488G>T (p.Glu496Asp)
c.810G>T (p.Glu270Asp)
c.1605G>T (p.Glu535Asp)
c.1359G>T (p.Glu453Asp)
 dbSNP
9g.89348172A>CCA373989262SECISBP2c.1696A>C (p.Ser566Arg)
c.1477A>C (p.Ser493Arg)
n.25A>C
c.1492A>C (p.Ser498Arg)
c.1693A>C (p.Ser565Arg)
c.1579A>C (p.Ser527Arg)
c.799A>C (p.Ser267Arg)
c.1402A>C (p.Ser468Arg)
c.1378A>C (p.Ser460Arg)
c.1375A>C (p.Ser459Arg)
n.1854A>C
c.1582A>C (p.Ser528Arg)
c.1489A>C (p.Ser497Arg)
c.811A>C (p.Ser271Arg)
c.1606A>C (p.Ser536Arg)
c.1360A>C (p.Ser454Arg)
9g.89348172A>GCA373989263SECISBP2c.1696A>G (p.Ser566Gly)
c.1477A>G (p.Ser493Gly)
n.25A>G
c.1492A>G (p.Ser498Gly)
c.1693A>G (p.Ser565Gly)
c.1579A>G (p.Ser527Gly)
c.799A>G (p.Ser267Gly)
c.1402A>G (p.Ser468Gly)
c.1378A>G (p.Ser460Gly)
c.1375A>G (p.Ser459Gly)
n.1854A>G
c.1582A>G (p.Ser528Gly)
c.1489A>G (p.Ser497Gly)
c.811A>G (p.Ser271Gly)
c.1606A>G (p.Ser536Gly)
c.1360A>G (p.Ser454Gly)
9g.89348172A>TCA373989264SECISBP2c.1696A>T (p.Ser566Cys)
c.1477A>T (p.Ser493Cys)
n.25A>T
c.1492A>T (p.Ser498Cys)
c.1693A>T (p.Ser565Cys)
c.1579A>T (p.Ser527Cys)
c.799A>T (p.Ser267Cys)
c.1402A>T (p.Ser468Cys)
c.1378A>T (p.Ser460Cys)
c.1375A>T (p.Ser459Cys)
n.1854A>T
c.1582A>T (p.Ser528Cys)
c.1489A>T (p.Ser497Cys)
c.811A>T (p.Ser271Cys)
c.1606A>T (p.Ser536Cys)
c.1360A>T (p.Ser454Cys)
9g.89348173G>ACA373989267SECISBP2c.1697G>A (p.Ser566Asn)
c.1478G>A (p.Ser493Asn)
n.26G>A
c.1493G>A (p.Ser498Asn)
c.1694G>A (p.Ser565Asn)
c.1580G>A (p.Ser527Asn)
c.800G>A (p.Ser267Asn)
c.1403G>A (p.Ser468Asn)
c.1379G>A (p.Ser460Asn)
c.1376G>A (p.Ser459Asn)
n.1855G>A
c.1583G>A (p.Ser528Asn)
c.1490G>A (p.Ser497Asn)
c.812G>A (p.Ser271Asn)
c.1607G>A (p.Ser536Asn)
c.1361G>A (p.Ser454Asn)
9g.89348173G>CCA373989265SECISBP2c.1697G>C (p.Ser566Thr)
c.1478G>C (p.Ser493Thr)
n.26G>C
c.1493G>C (p.Ser498Thr)
c.1694G>C (p.Ser565Thr)
c.1580G>C (p.Ser527Thr)
c.800G>C (p.Ser267Thr)
c.1403G>C (p.Ser468Thr)
c.1379G>C (p.Ser460Thr)
c.1376G>C (p.Ser459Thr)
n.1855G>C
c.1583G>C (p.Ser528Thr)
c.1490G>C (p.Ser497Thr)
c.812G>C (p.Ser271Thr)
c.1607G>C (p.Ser536Thr)
c.1361G>C (p.Ser454Thr)
9g.89348173G>TCA373989266SECISBP2c.1697G>T (p.Ser566Ile)
c.1478G>T (p.Ser493Ile)
n.26G>T
c.1493G>T (p.Ser498Ile)
c.1694G>T (p.Ser565Ile)
c.1580G>T (p.Ser527Ile)
c.800G>T (p.Ser267Ile)
c.1403G>T (p.Ser468Ile)
c.1379G>T (p.Ser460Ile)
c.1376G>T (p.Ser459Ile)
n.1855G>T
c.1583G>T (p.Ser528Ile)
c.1490G>T (p.Ser497Ile)
c.812G>T (p.Ser271Ile)
c.1607G>T (p.Ser536Ile)
c.1361G>T (p.Ser454Ile)
9g.89348174_89348175delCA2690590527SECISBP2c.1698_1699del (p.Ser566ArgfsTer3)
c.1479_1480del (p.Ser493ArgfsTer3)
n.27_28del
c.1494_1495del (p.Ser498ArgfsTer3)
c.1695_1696del (p.Ser565ArgfsTer3)
c.1581_1582del (p.Ser527ArgfsTer3)
c.801_802del (p.Ser267ArgfsTer3)
c.1404_1405del (p.Ser468ArgfsTer3)
c.1380_1381del (p.Ser460ArgfsTer3)
c.1377_1378del (p.Ser459ArgfsTer3)
n.1856_1857del
c.1584_1585del (p.Ser528ArgfsTer3)
c.1491_1492del (p.Ser497ArgfsTer3)
c.813_814del (p.Ser271ArgfsTer3)
c.1608_1609del (p.Ser536ArgfsTer3)
c.1362_1363del (p.Ser454ArgfsTer3)
 gnomAD v4
9g.89348174T>ACA373989268SECISBP2c.1698T>A (p.Ser566Arg)
c.1479T>A (p.Ser493Arg)
n.27T>A
c.1494T>A (p.Ser498Arg)
c.1695T>A (p.Ser565Arg)
c.1581T>A (p.Ser527Arg)
c.801T>A (p.Ser267Arg)
c.1404T>A (p.Ser468Arg)
c.1380T>A (p.Ser460Arg)
c.1377T>A (p.Ser459Arg)
n.1856T>A
c.1584T>A (p.Ser528Arg)
c.1491T>A (p.Ser497Arg)
c.813T>A (p.Ser271Arg)
c.1608T>A (p.Ser536Arg)
c.1362T>A (p.Ser454Arg)
 dbSNP gnomAD v4
9g.89348174T>CCA465790554SECISBP2c.1698T>C (p.Ser566=)
c.1479T>C (p.Ser493=)
n.27T>C
c.1494T>C (p.Ser498=)
c.1695T>C (p.Ser565=)
c.1581T>C (p.Ser527=)
c.801T>C (p.Ser267=)
c.1404T>C (p.Ser468=)
c.1380T>C (p.Ser460=)
c.1377T>C (p.Ser459=)
n.1856T>C
c.1584T>C (p.Ser528=)
c.1491T>C (p.Ser497=)
c.813T>C (p.Ser271=)
c.1608T>C (p.Ser536=)
c.1362T>C (p.Ser454=)
9g.89348174T>GCA373989269SECISBP2c.1698T>G (p.Ser566Arg)
c.1479T>G (p.Ser493Arg)
n.27T>G
c.1494T>G (p.Ser498Arg)
c.1695T>G (p.Ser565Arg)
c.1581T>G (p.Ser527Arg)
c.801T>G (p.Ser267Arg)
c.1404T>G (p.Ser468Arg)
c.1380T>G (p.Ser460Arg)
c.1377T>G (p.Ser459Arg)
n.1856T>G
c.1584T>G (p.Ser528Arg)
c.1491T>G (p.Ser497Arg)
c.813T>G (p.Ser271Arg)
c.1608T>G (p.Ser536Arg)
c.1362T>G (p.Ser454Arg)
9g.89348174T=CA1862788099SECISBP2c.1698T= (p.Ser566=)
c.1479T= (p.Ser493=)
n.27T=
c.1494T= (p.Ser498=)
c.1695T= (p.Ser565=)
c.1581T= (p.Ser527=)
c.801T= (p.Ser267=)
c.1404T= (p.Ser468=)
c.1380T= (p.Ser460=)
c.1377T= (p.Ser459=)
n.1856T=
c.1584T= (p.Ser528=)
c.1491T= (p.Ser497=)
c.813T= (p.Ser271=)
c.1608T= (p.Ser536=)
c.1362T= (p.Ser454=)
9g.89348175G>ACA373989270SECISBP2c.1699G>A (p.Gly567Ser)
c.1480G>A (p.Gly494Ser)
n.28G>A
c.1495G>A (p.Gly499Ser)
c.1696G>A (p.Gly566Ser)
c.1582G>A (p.Gly528Ser)
c.802G>A (p.Gly268Ser)
c.1405G>A (p.Gly469Ser)
c.1381G>A (p.Gly461Ser)
c.1378G>A (p.Gly460Ser)
n.1857G>A
c.1585G>A (p.Gly529Ser)
c.1492G>A (p.Gly498Ser)
c.814G>A (p.Gly272Ser)
c.1609G>A (p.Gly537Ser)
c.1363G>A (p.Gly455Ser)
9g.89348175G>CCA373989271SECISBP2c.1699G>C (p.Gly567Arg)
c.1480G>C (p.Gly494Arg)
n.28G>C
c.1495G>C (p.Gly499Arg)
c.1696G>C (p.Gly566Arg)
c.1582G>C (p.Gly528Arg)
c.802G>C (p.Gly268Arg)
c.1405G>C (p.Gly469Arg)
c.1381G>C (p.Gly461Arg)
c.1378G>C (p.Gly460Arg)
n.1857G>C
c.1585G>C (p.Gly529Arg)
c.1492G>C (p.Gly498Arg)
c.814G>C (p.Gly272Arg)
c.1609G>C (p.Gly537Arg)
c.1363G>C (p.Gly455Arg)
9g.89348175G>TCA373989272SECISBP2c.1699G>T (p.Gly567Cys)
c.1480G>T (p.Gly494Cys)
n.28G>T
c.1495G>T (p.Gly499Cys)
c.1696G>T (p.Gly566Cys)
c.1582G>T (p.Gly528Cys)
c.802G>T (p.Gly268Cys)
c.1405G>T (p.Gly469Cys)
c.1381G>T (p.Gly461Cys)
c.1378G>T (p.Gly460Cys)
n.1857G>T
c.1585G>T (p.Gly529Cys)
c.1492G>T (p.Gly498Cys)
c.814G>T (p.Gly272Cys)
c.1609G>T (p.Gly537Cys)
c.1363G>T (p.Gly455Cys)
 COSMIC
9g.89348176G>ACA5117532SECISBP2c.1700G>A (p.Gly567Asp)
c.1481G>A (p.Gly494Asp)
n.29G>A
c.1496G>A (p.Gly499Asp)
c.1697G>A (p.Gly566Asp)
c.1583G>A (p.Gly528Asp)
c.803G>A (p.Gly268Asp)
c.1406G>A (p.Gly469Asp)
c.1382G>A (p.Gly461Asp)
c.1379G>A (p.Gly460Asp)
n.1858G>A
c.1586G>A (p.Gly529Asp)
c.1493G>A (p.Gly498Asp)
c.815G>A (p.Gly272Asp)
c.1610G>A (p.Gly537Asp)
c.1364G>A (p.Gly455Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.89348176G>CCA373989273SECISBP2c.1700G>C (p.Gly567Ala)
c.1481G>C (p.Gly494Ala)
n.29G>C
c.1496G>C (p.Gly499Ala)
c.1697G>C (p.Gly566Ala)
c.1583G>C (p.Gly528Ala)
c.803G>C (p.Gly268Ala)
c.1406G>C (p.Gly469Ala)
c.1382G>C (p.Gly461Ala)
c.1379G>C (p.Gly460Ala)
n.1858G>C
c.1586G>C (p.Gly529Ala)
c.1493G>C (p.Gly498Ala)
c.815G>C (p.Gly272Ala)
c.1610G>C (p.Gly537Ala)
c.1364G>C (p.Gly455Ala)
9g.89348176G=CA1862788107SECISBP2c.1700G= (p.Gly567=)
c.1481G= (p.Gly494=)
n.29G=
c.1496G= (p.Gly499=)
c.1697G= (p.Gly566=)
c.1583G= (p.Gly528=)
c.803G= (p.Gly268=)
c.1406G= (p.Gly469=)
c.1382G= (p.Gly461=)
c.1379G= (p.Gly460=)
n.1858G=
c.1586G= (p.Gly529=)
c.1493G= (p.Gly498=)
c.815G= (p.Gly272=)
c.1610G= (p.Gly537=)
c.1364G= (p.Gly455=)
9g.89348176G>TCA373989274SECISBP2c.1700G>T (p.Gly567Val)
c.1481G>T (p.Gly494Val)
n.29G>T
c.1496G>T (p.Gly499Val)
c.1697G>T (p.Gly566Val)
c.1583G>T (p.Gly528Val)
c.803G>T (p.Gly268Val)
c.1406G>T (p.Gly469Val)
c.1382G>T (p.Gly461Val)
c.1379G>T (p.Gly460Val)
n.1858G>T
c.1586G>T (p.Gly529Val)
c.1493G>T (p.Gly498Val)
c.815G>T (p.Gly272Val)
c.1610G>T (p.Gly537Val)
c.1364G>T (p.Gly455Val)
9g.89348177T>ACA465790555SECISBP2c.1701T>A (p.Gly567=)
c.1482T>A (p.Gly494=)
n.30T>A
c.1497T>A (p.Gly499=)
c.1698T>A (p.Gly566=)
c.1584T>A (p.Gly528=)
c.804T>A (p.Gly268=)
c.1407T>A (p.Gly469=)
c.1383T>A (p.Gly461=)
c.1380T>A (p.Gly460=)
n.1859T>A
c.1587T>A (p.Gly529=)
c.1494T>A (p.Gly498=)
c.816T>A (p.Gly272=)
c.1611T>A (p.Gly537=)
c.1365T>A (p.Gly455=)
9g.89348177T>CCA465790556SECISBP2c.1701T>C (p.Gly567=)
c.1482T>C (p.Gly494=)
n.30T>C
c.1497T>C (p.Gly499=)
c.1698T>C (p.Gly566=)
c.1584T>C (p.Gly528=)
c.804T>C (p.Gly268=)
c.1407T>C (p.Gly469=)
c.1383T>C (p.Gly461=)
c.1380T>C (p.Gly460=)
n.1859T>C
c.1587T>C (p.Gly529=)
c.1494T>C (p.Gly498=)
c.816T>C (p.Gly272=)
c.1611T>C (p.Gly537=)
c.1365T>C (p.Gly455=)
9g.89348177T>GCA465790557SECISBP2c.1701T>G (p.Gly567=)
c.1482T>G (p.Gly494=)
n.30T>G
c.1497T>G (p.Gly499=)
c.1698T>G (p.Gly566=)
c.1584T>G (p.Gly528=)
c.804T>G (p.Gly268=)
c.1407T>G (p.Gly469=)
c.1383T>G (p.Gly461=)
c.1380T>G (p.Gly460=)
n.1859T>G
c.1587T>G (p.Gly529=)
c.1494T>G (p.Gly498=)
c.816T>G (p.Gly272=)
c.1611T>G (p.Gly537=)
c.1365T>G (p.Gly455=)
9g.89348178G>ACA373989275SECISBP2c.1702G>A (p.Gly568Ser)
c.1483G>A (p.Gly495Ser)
n.31G>A
c.1498G>A (p.Gly500Ser)
c.1699G>A (p.Gly567Ser)
c.1585G>A (p.Gly529Ser)
c.805G>A (p.Gly269Ser)
c.1408G>A (p.Gly470Ser)
c.1384G>A (p.Gly462Ser)
c.1381G>A (p.Gly461Ser)
n.1860G>A
c.1588G>A (p.Gly530Ser)
c.1495G>A (p.Gly499Ser)
c.817G>A (p.Gly273Ser)
c.1612G>A (p.Gly538Ser)
c.1366G>A (p.Gly456Ser)
 gnomAD v4
9g.89348178G>CCA373989276SECISBP2c.1702G>C (p.Gly568Arg)
c.1483G>C (p.Gly495Arg)
n.31G>C
c.1498G>C (p.Gly500Arg)
c.1699G>C (p.Gly567Arg)
c.1585G>C (p.Gly529Arg)
c.805G>C (p.Gly269Arg)
c.1408G>C (p.Gly470Arg)
c.1384G>C (p.Gly462Arg)
c.1381G>C (p.Gly461Arg)
n.1860G>C
c.1588G>C (p.Gly530Arg)
c.1495G>C (p.Gly499Arg)
c.817G>C (p.Gly273Arg)
c.1612G>C (p.Gly538Arg)
c.1366G>C (p.Gly456Arg)
9g.89348178G>TCA373989277SECISBP2c.1702G>T (p.Gly568Cys)
c.1483G>T (p.Gly495Cys)
n.31G>T
c.1498G>T (p.Gly500Cys)
c.1699G>T (p.Gly567Cys)
c.1585G>T (p.Gly529Cys)
c.805G>T (p.Gly269Cys)
c.1408G>T (p.Gly470Cys)
c.1384G>T (p.Gly462Cys)
c.1381G>T (p.Gly461Cys)
n.1860G>T
c.1588G>T (p.Gly530Cys)
c.1495G>T (p.Gly499Cys)
c.817G>T (p.Gly273Cys)
c.1612G>T (p.Gly538Cys)
c.1366G>T (p.Gly456Cys)
9g.89348179G>ACA373989280SECISBP2c.1703G>A (p.Gly568Asp)
c.1484G>A (p.Gly495Asp)
n.32G>A
c.1499G>A (p.Gly500Asp)
c.1700G>A (p.Gly567Asp)
c.1586G>A (p.Gly529Asp)
c.806G>A (p.Gly269Asp)
c.1409G>A (p.Gly470Asp)
c.1385G>A (p.Gly462Asp)
c.1382G>A (p.Gly461Asp)
n.1861G>A
c.1589G>A (p.Gly530Asp)
c.1496G>A (p.Gly499Asp)
c.818G>A (p.Gly273Asp)
c.1613G>A (p.Gly538Asp)
c.1367G>A (p.Gly456Asp)
 dbSNP gnomAD v3 gnomAD v4
9g.89348179G>CCA373989279SECISBP2c.1703G>C (p.Gly568Ala)
c.1484G>C (p.Gly495Ala)
n.32G>C
c.1499G>C (p.Gly500Ala)
c.1700G>C (p.Gly567Ala)
c.1586G>C (p.Gly529Ala)
c.806G>C (p.Gly269Ala)
c.1409G>C (p.Gly470Ala)
c.1385G>C (p.Gly462Ala)
c.1382G>C (p.Gly461Ala)
n.1861G>C
c.1589G>C (p.Gly530Ala)
c.1496G>C (p.Gly499Ala)
c.818G>C (p.Gly273Ala)
c.1613G>C (p.Gly538Ala)
c.1367G>C (p.Gly456Ala)
9g.89348179G=CA1862788110SECISBP2c.1703G= (p.Gly568=)
c.1484G= (p.Gly495=)
n.32G=
c.1499G= (p.Gly500=)
c.1700G= (p.Gly567=)
c.1586G= (p.Gly529=)
c.806G= (p.Gly269=)
c.1409G= (p.Gly470=)
c.1385G= (p.Gly462=)
c.1382G= (p.Gly461=)
n.1861G=
c.1589G= (p.Gly530=)
c.1496G= (p.Gly499=)
c.818G= (p.Gly273=)
c.1613G= (p.Gly538=)
c.1367G= (p.Gly456=)
9g.89348179G>TCA373989278SECISBP2c.1703G>T (p.Gly568Val)
c.1484G>T (p.Gly495Val)
n.32G>T
c.1499G>T (p.Gly500Val)
c.1700G>T (p.Gly567Val)
c.1586G>T (p.Gly529Val)
c.806G>T (p.Gly269Val)
c.1409G>T (p.Gly470Val)
c.1385G>T (p.Gly462Val)
c.1382G>T (p.Gly461Val)
n.1861G>T
c.1589G>T (p.Gly530Val)
c.1496G>T (p.Gly499Val)
c.818G>T (p.Gly273Val)
c.1613G>T (p.Gly538Val)
c.1367G>T (p.Gly456Val)
9g.89348180delCA2690590545SECISBP2c.1704del (p.Asp569MetfsTer19)
c.1485del (p.Asp496MetfsTer19)
n.33del
c.1500del (p.Asp501MetfsTer19)
c.1701del (p.Asp568MetfsTer19)
c.1587del (p.Asp530MetfsTer19)
c.807del (p.Asp270MetfsTer19)
c.1410del (p.Asp471MetfsTer19)
c.1386del (p.Asp463MetfsTer19)
c.1383del (p.Asp462MetfsTer19)
n.1862del
c.1590del (p.Asp531MetfsTer19)
c.1497del (p.Asp500MetfsTer19)
c.819del (p.Asp274MetfsTer19)
c.1614del (p.Asp539MetfsTer19)
c.1368del (p.Asp457MetfsTer19)
 gnomAD v4
9g.89348180T>ACA5117533SECISBP2c.1704T>A (p.Gly568=)
c.1485T>A (p.Gly495=)
n.33T>A
c.1500T>A (p.Gly500=)
c.1701T>A (p.Gly567=)
c.1587T>A (p.Gly529=)
c.807T>A (p.Gly269=)
c.1410T>A (p.Gly470=)
c.1386T>A (p.Gly462=)
c.1383T>A (p.Gly461=)
n.1862T>A
c.1590T>A (p.Gly530=)
c.1497T>A (p.Gly499=)
c.819T>A (p.Gly273=)
c.1614T>A (p.Gly538=)
c.1368T>A (p.Gly456=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.89348180T>CCA465790558SECISBP2c.1704T>C (p.Gly568=)
c.1485T>C (p.Gly495=)
n.33T>C
c.1500T>C (p.Gly500=)
c.1701T>C (p.Gly567=)
c.1587T>C (p.Gly529=)
c.807T>C (p.Gly269=)
c.1410T>C (p.Gly470=)
c.1386T>C (p.Gly462=)
c.1383T>C (p.Gly461=)
n.1862T>C
c.1590T>C (p.Gly530=)
c.1497T>C (p.Gly499=)
c.819T>C (p.Gly273=)
c.1614T>C (p.Gly538=)
c.1368T>C (p.Gly456=)
9g.89348180T>GCA465790559SECISBP2c.1704T>G (p.Gly568=)
c.1485T>G (p.Gly495=)
n.33T>G
c.1500T>G (p.Gly500=)
c.1701T>G (p.Gly567=)
c.1587T>G (p.Gly529=)
c.807T>G (p.Gly269=)
c.1410T>G (p.Gly470=)
c.1386T>G (p.Gly462=)
c.1383T>G (p.Gly461=)
n.1862T>G
c.1590T>G (p.Gly530=)
c.1497T>G (p.Gly499=)
c.819T>G (p.Gly273=)
c.1614T>G (p.Gly538=)
c.1368T>G (p.Gly456=)
 dbSNP
9g.89348180T=CA1862788115SECISBP2c.1704T= (p.Gly568=)
c.1485T= (p.Gly495=)
n.33T=
c.1500T= (p.Gly500=)
c.1701T= (p.Gly567=)
c.1587T= (p.Gly529=)
c.807T= (p.Gly269=)
c.1410T= (p.Gly470=)
c.1386T= (p.Gly462=)
c.1383T= (p.Gly461=)
n.1862T=
c.1590T= (p.Gly530=)
c.1497T= (p.Gly499=)
c.819T= (p.Gly273=)
c.1614T= (p.Gly538=)
c.1368T= (p.Gly456=)
9g.89348183_89348185dupCA1862788114SECISBP2c.1707_1709dup (p.Asp570_Gln571insAsp)
c.1488_1490dup (p.Asp497_Gln498insAsp)
n.36_38dup
c.1503_1505dup (p.Asp502_Gln503insAsp)
c.1704_1706dup (p.Asp569_Gln570insAsp)
c.1590_1592dup (p.Asp531_Gln532insAsp)
c.810_812dup (p.Asp271_Gln272insAsp)
c.1413_1415dup (p.Asp472_Gln473insAsp)
c.1389_1391dup (p.Asp464_Gln465insAsp)
c.1386_1388dup (p.Asp463_Gln464insAsp)
n.1865_1867dup
c.1593_1595dup (p.Asp532_Gln533insAsp)
c.1500_1502dup (p.Asp501_Gln502insAsp)
c.822_824dup (p.Asp275_Gln276insAsp)
c.1617_1619dup (p.Asp540_Gln541insAsp)
c.1371_1373dup (p.Asp458_Gln459insAsp)
 dbSNP
9g.89348181delCA2785017925SECISBP2c.1705del (p.Asp569MetfsTer19)
c.1486del (p.Asp496MetfsTer19)
n.34del
c.1501del (p.Asp501MetfsTer19)
c.1702del (p.Asp568MetfsTer19)
c.1588del (p.Asp530MetfsTer19)
c.808del (p.Asp270MetfsTer19)
c.1411del (p.Asp471MetfsTer19)
c.1387del (p.Asp463MetfsTer19)
c.1384del (p.Asp462MetfsTer19)
n.1863del
c.1591del (p.Asp531MetfsTer19)
c.1498del (p.Asp500MetfsTer19)
c.820del (p.Asp274MetfsTer19)
c.1615del (p.Asp539MetfsTer19)
c.1369del (p.Asp457MetfsTer19)
9g.89348181G>ACA373989281SECISBP2c.1705G>A (p.Asp569Asn)
c.1486G>A (p.Asp496Asn)
n.34G>A
c.1501G>A (p.Asp501Asn)
c.1702G>A (p.Asp568Asn)
c.1588G>A (p.Asp530Asn)
c.808G>A (p.Asp270Asn)
c.1411G>A (p.Asp471Asn)
c.1387G>A (p.Asp463Asn)
c.1384G>A (p.Asp462Asn)
n.1863G>A
c.1591G>A (p.Asp531Asn)
c.1498G>A (p.Asp500Asn)
c.820G>A (p.Asp274Asn)
c.1615G>A (p.Asp539Asn)
c.1369G>A (p.Asp457Asn)
 gnomAD v4
9g.89348181G>CCA373989282SECISBP2c.1705G>C (p.Asp569His)
c.1486G>C (p.Asp496His)
n.34G>C
c.1501G>C (p.Asp501His)
c.1702G>C (p.Asp568His)
c.1588G>C (p.Asp530His)
c.808G>C (p.Asp270His)
c.1411G>C (p.Asp471His)
c.1387G>C (p.Asp463His)
c.1384G>C (p.Asp462His)
n.1863G>C
c.1591G>C (p.Asp531His)
c.1498G>C (p.Asp500His)
c.820G>C (p.Asp274His)
c.1615G>C (p.Asp539His)
c.1369G>C (p.Asp457His)
9g.89348181G=CA1862788118SECISBP2c.1705G= (p.Asp569=)
c.1486G= (p.Asp496=)
n.34G=
c.1501G= (p.Asp501=)
c.1702G= (p.Asp568=)
c.1588G= (p.Asp530=)
c.808G= (p.Asp270=)
c.1411G= (p.Asp471=)
c.1387G= (p.Asp463=)
c.1384G= (p.Asp462=)
n.1863G=
c.1591G= (p.Asp531=)
c.1498G= (p.Asp500=)
c.820G= (p.Asp274=)
c.1615G= (p.Asp539=)
c.1369G= (p.Asp457=)
9g.89348181G>TCA373989283SECISBP2c.1705G>T (p.Asp569Tyr)
c.1486G>T (p.Asp496Tyr)
n.34G>T
c.1501G>T (p.Asp501Tyr)
c.1702G>T (p.Asp568Tyr)
c.1588G>T (p.Asp530Tyr)
c.808G>T (p.Asp270Tyr)
c.1411G>T (p.Asp471Tyr)
c.1387G>T (p.Asp463Tyr)
c.1384G>T (p.Asp462Tyr)
n.1863G>T
c.1591G>T (p.Asp531Tyr)
c.1498G>T (p.Asp500Tyr)
c.820G>T (p.Asp274Tyr)
c.1615G>T (p.Asp539Tyr)
c.1369G>T (p.Asp457Tyr)
 dbSNP
9g.89348182A>CCA373989284SECISBP2c.1706A>C (p.Asp569Ala)
c.1487A>C (p.Asp496Ala)
n.35A>C
c.1502A>C (p.Asp501Ala)
c.1703A>C (p.Asp568Ala)
c.1589A>C (p.Asp530Ala)
c.809A>C (p.Asp270Ala)
c.1412A>C (p.Asp471Ala)
c.1388A>C (p.Asp463Ala)
c.1385A>C (p.Asp462Ala)
n.1864A>C
c.1592A>C (p.Asp531Ala)
c.1499A>C (p.Asp500Ala)
c.821A>C (p.Asp274Ala)
c.1616A>C (p.Asp539Ala)
c.1370A>C (p.Asp457Ala)
9g.89348182A>GCA373989285SECISBP2c.1706A>G (p.Asp569Gly)
c.1487A>G (p.Asp496Gly)
n.35A>G
c.1502A>G (p.Asp501Gly)
c.1703A>G (p.Asp568Gly)
c.1589A>G (p.Asp530Gly)
c.809A>G (p.Asp270Gly)
c.1412A>G (p.Asp471Gly)
c.1388A>G (p.Asp463Gly)
c.1385A>G (p.Asp462Gly)
n.1864A>G
c.1592A>G (p.Asp531Gly)
c.1499A>G (p.Asp500Gly)
c.821A>G (p.Asp274Gly)
c.1616A>G (p.Asp539Gly)
c.1370A>G (p.Asp457Gly)
 gnomAD v4
9g.89348182A>TCA373989286SECISBP2c.1706A>T (p.Asp569Val)
c.1487A>T (p.Asp496Val)
n.35A>T
c.1502A>T (p.Asp501Val)
c.1703A>T (p.Asp568Val)
c.1589A>T (p.Asp530Val)
c.809A>T (p.Asp270Val)
c.1412A>T (p.Asp471Val)
c.1388A>T (p.Asp463Val)
c.1385A>T (p.Asp462Val)
n.1864A>T
c.1592A>T (p.Asp531Val)
c.1499A>T (p.Asp500Val)
c.821A>T (p.Asp274Val)
c.1616A>T (p.Asp539Val)
c.1370A>T (p.Asp457Val)
9g.89348183T>ACA373989287SECISBP2c.1707T>A (p.Asp569Glu)
c.1488T>A (p.Asp496Glu)
n.36T>A
c.1503T>A (p.Asp501Glu)
c.1704T>A (p.Asp568Glu)
c.1590T>A (p.Asp530Glu)
c.810T>A (p.Asp270Glu)
c.1413T>A (p.Asp471Glu)
c.1389T>A (p.Asp463Glu)
c.1386T>A (p.Asp462Glu)
n.1865T>A
c.1593T>A (p.Asp531Glu)
c.1500T>A (p.Asp500Glu)
c.822T>A (p.Asp274Glu)
c.1617T>A (p.Asp539Glu)
c.1371T>A (p.Asp457Glu)
9g.89348183T>CCA465790560SECISBP2c.1707T>C (p.Asp569=)
c.1488T>C (p.Asp496=)
n.36T>C
c.1503T>C (p.Asp501=)
c.1704T>C (p.Asp568=)
c.1590T>C (p.Asp530=)
c.810T>C (p.Asp270=)
c.1413T>C (p.Asp471=)
c.1389T>C (p.Asp463=)
c.1386T>C (p.Asp462=)
n.1865T>C
c.1593T>C (p.Asp531=)
c.1500T>C (p.Asp500=)
c.822T>C (p.Asp274=)
c.1617T>C (p.Asp539=)
c.1371T>C (p.Asp457=)
 dbSNP
9g.89348183T>GCA373989288SECISBP2c.1707T>G (p.Asp569Glu)
c.1488T>G (p.Asp496Glu)
n.36T>G
c.1503T>G (p.Asp501Glu)
c.1704T>G (p.Asp568Glu)
c.1590T>G (p.Asp530Glu)
c.810T>G (p.Asp270Glu)
c.1413T>G (p.Asp471Glu)
c.1389T>G (p.Asp463Glu)
c.1386T>G (p.Asp462Glu)
n.1865T>G
c.1593T>G (p.Asp531Glu)
c.1500T>G (p.Asp500Glu)
c.822T>G (p.Asp274Glu)
c.1617T>G (p.Asp539Glu)
c.1371T>G (p.Asp457Glu)
9g.89348184G>ACA373989289SECISBP2c.1708G>A (p.Asp570Asn)
c.1489G>A (p.Asp497Asn)
n.37G>A
c.1504G>A (p.Asp502Asn)
c.1705G>A (p.Asp569Asn)
c.1591G>A (p.Asp531Asn)
c.811G>A (p.Asp271Asn)
c.1414G>A (p.Asp472Asn)
c.1390G>A (p.Asp464Asn)
c.1387G>A (p.Asp463Asn)
n.1866G>A
c.1594G>A (p.Asp532Asn)
c.1501G>A (p.Asp501Asn)
c.823G>A (p.Asp275Asn)
c.1618G>A (p.Asp540Asn)
c.1372G>A (p.Asp458Asn)
9g.89348184G>CCA373989290SECISBP2c.1708G>C (p.Asp570His)
c.1489G>C (p.Asp497His)
n.37G>C
c.1504G>C (p.Asp502His)
c.1705G>C (p.Asp569His)
c.1591G>C (p.Asp531His)
c.811G>C (p.Asp271His)
c.1414G>C (p.Asp472His)
c.1390G>C (p.Asp464His)
c.1387G>C (p.Asp463His)
n.1866G>C
c.1594G>C (p.Asp532His)
c.1501G>C (p.Asp501His)
c.823G>C (p.Asp275His)
c.1618G>C (p.Asp540His)
c.1372G>C (p.Asp458His)
9g.89348184G>TCA373989291SECISBP2c.1708G>T (p.Asp570Tyr)
c.1489G>T (p.Asp497Tyr)
n.37G>T
c.1504G>T (p.Asp502Tyr)
c.1705G>T (p.Asp569Tyr)
c.1591G>T (p.Asp531Tyr)
c.811G>T (p.Asp271Tyr)
c.1414G>T (p.Asp472Tyr)
c.1390G>T (p.Asp464Tyr)
c.1387G>T (p.Asp463Tyr)
n.1866G>T
c.1594G>T (p.Asp532Tyr)
c.1501G>T (p.Asp501Tyr)
c.823G>T (p.Asp275Tyr)
c.1618G>T (p.Asp540Tyr)
c.1372G>T (p.Asp458Tyr)
9g.89348185A>CCA373989294SECISBP2c.1709A>C (p.Asp570Ala)
c.1490A>C (p.Asp497Ala)
n.38A>C
c.1505A>C (p.Asp502Ala)
c.1706A>C (p.Asp569Ala)
c.1592A>C (p.Asp531Ala)
c.812A>C (p.Asp271Ala)
c.1415A>C (p.Asp472Ala)
c.1391A>C (p.Asp464Ala)
c.1388A>C (p.Asp463Ala)
n.1867A>C
c.1595A>C (p.Asp532Ala)
c.1502A>C (p.Asp501Ala)
c.824A>C (p.Asp275Ala)
c.1619A>C (p.Asp540Ala)
c.1373A>C (p.Asp458Ala)
9g.89348185A>GCA373989293SECISBP2c.1709A>G (p.Asp570Gly)
c.1490A>G (p.Asp497Gly)
n.38A>G
c.1505A>G (p.Asp502Gly)
c.1706A>G (p.Asp569Gly)
c.1592A>G (p.Asp531Gly)
c.812A>G (p.Asp271Gly)
c.1415A>G (p.Asp472Gly)
c.1391A>G (p.Asp464Gly)
c.1388A>G (p.Asp463Gly)
n.1867A>G
c.1595A>G (p.Asp532Gly)
c.1502A>G (p.Asp501Gly)
c.824A>G (p.Asp275Gly)
c.1619A>G (p.Asp540Gly)
c.1373A>G (p.Asp458Gly)
9g.89348185A>TCA373989292SECISBP2c.1709A>T (p.Asp570Val)
c.1490A>T (p.Asp497Val)
n.38A>T
c.1505A>T (p.Asp502Val)
c.1706A>T (p.Asp569Val)
c.1592A>T (p.Asp531Val)
c.812A>T (p.Asp271Val)
c.1415A>T (p.Asp472Val)
c.1391A>T (p.Asp464Val)
c.1388A>T (p.Asp463Val)
n.1867A>T
c.1595A>T (p.Asp532Val)
c.1502A>T (p.Asp501Val)
c.824A>T (p.Asp275Val)
c.1619A>T (p.Asp540Val)
c.1373A>T (p.Asp458Val)
9g.89348186C>ACA373989295SECISBP2c.1710C>A (p.Asp570Glu)
c.1491C>A (p.Asp497Glu)
n.39C>A
c.1506C>A (p.Asp502Glu)
c.1707C>A (p.Asp569Glu)
c.1593C>A (p.Asp531Glu)
c.813C>A (p.Asp271Glu)
c.1416C>A (p.Asp472Glu)
c.1392C>A (p.Asp464Glu)
c.1389C>A (p.Asp463Glu)
n.1868C>A
c.1596C>A (p.Asp532Glu)
c.1503C>A (p.Asp501Glu)
c.825C>A (p.Asp275Glu)
c.1620C>A (p.Asp540Glu)
c.1374C>A (p.Asp458Glu)
9g.89348186C>GCA373989296SECISBP2c.1710C>G (p.Asp570Glu)
c.1491C>G (p.Asp497Glu)
n.39C>G
c.1506C>G (p.Asp502Glu)
c.1707C>G (p.Asp569Glu)
c.1593C>G (p.Asp531Glu)
c.813C>G (p.Asp271Glu)
c.1416C>G (p.Asp472Glu)
c.1392C>G (p.Asp464Glu)
c.1389C>G (p.Asp463Glu)
n.1868C>G
c.1596C>G (p.Asp532Glu)
c.1503C>G (p.Asp501Glu)
c.825C>G (p.Asp275Glu)
c.1620C>G (p.Asp540Glu)
c.1374C>G (p.Asp458Glu)
9g.89348186C>TCA465790561SECISBP2c.1710C>T (p.Asp570=)
c.1491C>T (p.Asp497=)
n.39C>T
c.1506C>T (p.Asp502=)
c.1707C>T (p.Asp569=)
c.1593C>T (p.Asp531=)
c.813C>T (p.Asp271=)
c.1416C>T (p.Asp472=)
c.1392C>T (p.Asp464=)
c.1389C>T (p.Asp463=)
n.1868C>T
c.1596C>T (p.Asp532=)
c.1503C>T (p.Asp501=)
c.825C>T (p.Asp275=)
c.1620C>T (p.Asp540=)
c.1374C>T (p.Asp458=)
9g.89348186_89348198delinsCCAGTTTCCCGAGCA1862788127SECISBP2c.1710_1722delinsCCAGTTTCCCGAG (p.Asp570=)
c.1491_1503delinsCCAGTTTCCCGAG (p.Asp497=)
n.39_51delinsCCAGTTTCCCGAG
c.1506_1518delinsCCAGTTTCCCGAG (p.Asp502=)
c.1707_1719delinsCCAGTTTCCCGAG (p.Asp569=)
c.1593_1605delinsCCAGTTTCCCGAG (p.Asp531=)
c.813_825delinsCCAGTTTCCCGAG (p.Asp271=)
c.1416_1428delinsCCAGTTTCCCGAG (p.Asp472=)
c.1392_1404delinsCCAGTTTCCCGAG (p.Asp464=)
c.1389_1401delinsCCAGTTTCCCGAG (p.Asp463=)
n.1868_1880delinsCCAGTTTCCCGAG
c.1596_1608delinsCCAGTTTCCCGAG (p.Asp532=)
c.1503_1515delinsCCAGTTTCCCGAG (p.Asp501=)
c.825_837delinsCCAGTTTCCCGAG (p.Asp275=)
c.1620_1632delinsCCAGTTTCCCGAG (p.Asp540=)
c.1374_1386delinsCCAGTTTCCCGAG (p.Asp458=)
9g.89348187C>ACA195694435SECISBP2c.1711C>A (p.Gln571Lys)
c.1492C>A (p.Gln498Lys)
n.40C>A
c.1507C>A (p.Gln503Lys)
c.1708C>A (p.Gln570Lys)
c.1594C>A (p.Gln532Lys)
c.814C>A (p.Gln272Lys)
c.1417C>A (p.Gln473Lys)
c.1393C>A (p.Gln465Lys)
c.1390C>A (p.Gln464Lys)
n.1869C>A
c.1597C>A (p.Gln533Lys)
c.1504C>A (p.Gln502Lys)
c.826C>A (p.Gln276Lys)
c.1621C>A (p.Gln541Lys)
c.1375C>A (p.Gln459Lys)
 dbSNP
9g.89348187C=CA1862788135SECISBP2c.1711C= (p.Gln571=)
c.1492C= (p.Gln498=)
n.40C=
c.1507C= (p.Gln503=)
c.1708C= (p.Gln570=)
c.1594C= (p.Gln532=)
c.814C= (p.Gln272=)
c.1417C= (p.Gln473=)
c.1393C= (p.Gln465=)
c.1390C= (p.Gln464=)
n.1869C=
c.1597C= (p.Gln533=)
c.1504C= (p.Gln502=)
c.826C= (p.Gln276=)
c.1621C= (p.Gln541=)
c.1375C= (p.Gln459=)
9g.89348187C>GCA373989297SECISBP2c.1711C>G (p.Gln571Glu)
c.1492C>G (p.Gln498Glu)
n.40C>G
c.1507C>G (p.Gln503Glu)
c.1708C>G (p.Gln570Glu)
c.1594C>G (p.Gln532Glu)
c.814C>G (p.Gln272Glu)
c.1417C>G (p.Gln473Glu)
c.1393C>G (p.Gln465Glu)
c.1390C>G (p.Gln464Glu)
n.1869C>G
c.1597C>G (p.Gln533Glu)
c.1504C>G (p.Gln502Glu)
c.826C>G (p.Gln276Glu)
c.1621C>G (p.Gln541Glu)
c.1375C>G (p.Gln459Glu)
9g.89348187C>TCA373989298SECISBP2c.1711C>T (p.Gln571Ter)
c.1492C>T (p.Gln498Ter)
n.40C>T
c.1507C>T (p.Gln503Ter)
c.1708C>T (p.Gln570Ter)
c.1594C>T (p.Gln532Ter)
c.814C>T (p.Gln272Ter)
c.1417C>T (p.Gln473Ter)
c.1393C>T (p.Gln465Ter)
c.1390C>T (p.Gln464Ter)
n.1869C>T
c.1597C>T (p.Gln533Ter)
c.1504C>T (p.Gln502Ter)
c.826C>T (p.Gln276Ter)
c.1621C>T (p.Gln541Ter)
c.1375C>T (p.Gln459Ter)
 gnomAD v4
9g.89348190_89348201delCA1862788132SECISBP2c.1714_1725del (p.Phe572_Gln575del)
c.1495_1506del (p.Phe499_Gln502del)
n.43_54del
c.1510_1521del (p.Phe504_Gln507del)
c.1711_1722del (p.Phe571_Gln574del)
c.1597_1608del (p.Phe533_Gln536del)
c.817_828del (p.Phe273_Gln276del)
c.1420_1431del (p.Phe474_Gln477del)
c.1396_1407del (p.Phe466_Gln469del)
c.1393_1404del (p.Phe465_Gln468del)
n.1872_1883del
c.1600_1611del (p.Phe534_Gln537del)
c.1507_1518del (p.Phe503_Gln506del)
c.829_840del (p.Phe277_Gln280del)
c.1624_1635del (p.Phe542_Gln545del)
c.1378_1389del (p.Phe460_Gln463del)
 dbSNP gnomAD v4
9g.89348188A=CA1862788139SECISBP2c.1712A= (p.Gln571=)
c.1493A= (p.Gln498=)
n.41A=
c.1508A= (p.Gln503=)
c.1709A= (p.Gln570=)
c.1595A= (p.Gln532=)
c.815A= (p.Gln272=)
c.1418A= (p.Gln473=)
c.1394A= (p.Gln465=)
c.1391A= (p.Gln464=)
n.1870A=
c.1598A= (p.Gln533=)
c.1505A= (p.Gln502=)
c.827A= (p.Gln276=)
c.1622A= (p.Gln541=)
c.1376A= (p.Gln459=)
9g.89348188A>CCA373989299SECISBP2c.1712A>C (p.Gln571Pro)
c.1493A>C (p.Gln498Pro)
n.41A>C
c.1508A>C (p.Gln503Pro)
c.1709A>C (p.Gln570Pro)
c.1595A>C (p.Gln532Pro)
c.815A>C (p.Gln272Pro)
c.1418A>C (p.Gln473Pro)
c.1394A>C (p.Gln465Pro)
c.1391A>C (p.Gln464Pro)
n.1870A>C
c.1598A>C (p.Gln533Pro)
c.1505A>C (p.Gln502Pro)
c.827A>C (p.Gln276Pro)
c.1622A>C (p.Gln541Pro)
c.1376A>C (p.Gln459Pro)
9g.89348188A>GCA373989300SECISBP2c.1712A>G (p.Gln571Arg)
c.1493A>G (p.Gln498Arg)
n.41A>G
c.1508A>G (p.Gln503Arg)
c.1709A>G (p.Gln570Arg)
c.1595A>G (p.Gln532Arg)
c.815A>G (p.Gln272Arg)
c.1418A>G (p.Gln473Arg)
c.1394A>G (p.Gln465Arg)
c.1391A>G (p.Gln464Arg)
n.1870A>G
c.1598A>G (p.Gln533Arg)
c.1505A>G (p.Gln502Arg)
c.827A>G (p.Gln276Arg)
c.1622A>G (p.Gln541Arg)
c.1376A>G (p.Gln459Arg)
 dbSNP gnomAD v2 gnomAD v4
9g.89348188A>TCA373989301SECISBP2c.1712A>T (p.Gln571Leu)
c.1493A>T (p.Gln498Leu)
n.41A>T
c.1508A>T (p.Gln503Leu)
c.1709A>T (p.Gln570Leu)
c.1595A>T (p.Gln532Leu)
c.815A>T (p.Gln272Leu)
c.1418A>T (p.Gln473Leu)
c.1394A>T (p.Gln465Leu)
c.1391A>T (p.Gln464Leu)
n.1870A>T
c.1598A>T (p.Gln533Leu)
c.1505A>T (p.Gln502Leu)
c.827A>T (p.Gln276Leu)
c.1622A>T (p.Gln541Leu)
c.1376A>T (p.Gln459Leu)
9g.89348189G>ACA465790562SECISBP2c.1713G>A (p.Gln571=)
c.1494G>A (p.Gln498=)
n.42G>A
c.1509G>A (p.Gln503=)
c.1710G>A (p.Gln570=)
c.1596G>A (p.Gln532=)
c.816G>A (p.Gln272=)
c.1419G>A (p.Gln473=)
c.1395G>A (p.Gln465=)
c.1392G>A (p.Gln464=)
n.1871G>A
c.1599G>A (p.Gln533=)
c.1506G>A (p.Gln502=)
c.828G>A (p.Gln276=)
c.1623G>A (p.Gln541=)
c.1377G>A (p.Gln459=)
9g.89348189G>CCA373989302SECISBP2c.1713G>C (p.Gln571His)
c.1494G>C (p.Gln498His)
n.42G>C
c.1509G>C (p.Gln503His)
c.1710G>C (p.Gln570His)
c.1596G>C (p.Gln532His)
c.816G>C (p.Gln272His)
c.1419G>C (p.Gln473His)
c.1395G>C (p.Gln465His)
c.1392G>C (p.Gln464His)
n.1871G>C
c.1599G>C (p.Gln533His)
c.1506G>C (p.Gln502His)
c.828G>C (p.Gln276His)
c.1623G>C (p.Gln541His)
c.1377G>C (p.Gln459His)
9g.89348189G>TCA373989303SECISBP2c.1713G>T (p.Gln571His)
c.1494G>T (p.Gln498His)
n.42G>T
c.1509G>T (p.Gln503His)
c.1710G>T (p.Gln570His)
c.1596G>T (p.Gln532His)
c.816G>T (p.Gln272His)
c.1419G>T (p.Gln473His)
c.1395G>T (p.Gln465His)
c.1392G>T (p.Gln464His)
n.1871G>T
c.1599G>T (p.Gln533His)
c.1506G>T (p.Gln502His)
c.828G>T (p.Gln276His)
c.1623G>T (p.Gln541His)
c.1377G>T (p.Gln459His)
9g.89348190T>ACA373989304SECISBP2c.1714T>A (p.Phe572Ile)
c.1495T>A (p.Phe499Ile)
n.43T>A
c.1510T>A (p.Phe504Ile)
c.1711T>A (p.Phe571Ile)
c.1597T>A (p.Phe533Ile)
c.817T>A (p.Phe273Ile)
c.1420T>A (p.Phe474Ile)
c.1396T>A (p.Phe466Ile)
c.1393T>A (p.Phe465Ile)
n.1872T>A
c.1600T>A (p.Phe534Ile)
c.1507T>A (p.Phe503Ile)
c.829T>A (p.Phe277Ile)
c.1624T>A (p.Phe542Ile)
c.1378T>A (p.Phe460Ile)
9g.89348190T>CCA373989305SECISBP2c.1714T>C (p.Phe572Leu)
c.1495T>C (p.Phe499Leu)
n.43T>C
c.1510T>C (p.Phe504Leu)
c.1711T>C (p.Phe571Leu)
c.1597T>C (p.Phe533Leu)
c.817T>C (p.Phe273Leu)
c.1420T>C (p.Phe474Leu)
c.1396T>C (p.Phe466Leu)
c.1393T>C (p.Phe465Leu)
n.1872T>C
c.1600T>C (p.Phe534Leu)
c.1507T>C (p.Phe503Leu)
c.829T>C (p.Phe277Leu)
c.1624T>C (p.Phe542Leu)
c.1378T>C (p.Phe460Leu)
9g.89348190T>GCA373989306SECISBP2c.1714T>G (p.Phe572Val)
c.1495T>G (p.Phe499Val)
n.43T>G
c.1510T>G (p.Phe504Val)
c.1711T>G (p.Phe571Val)
c.1597T>G (p.Phe533Val)
c.817T>G (p.Phe273Val)
c.1420T>G (p.Phe474Val)
c.1396T>G (p.Phe466Val)
c.1393T>G (p.Phe465Val)
n.1872T>G
c.1600T>G (p.Phe534Val)
c.1507T>G (p.Phe503Val)
c.829T>G (p.Phe277Val)
c.1624T>G (p.Phe542Val)
c.1378T>G (p.Phe460Val)
9g.89348191T>ACA373989308SECISBP2c.1715T>A (p.Phe572Tyr)
c.1496T>A (p.Phe499Tyr)
n.44T>A
c.1511T>A (p.Phe504Tyr)
c.1712T>A (p.Phe571Tyr)
c.1598T>A (p.Phe533Tyr)
c.818T>A (p.Phe273Tyr)
c.1421T>A (p.Phe474Tyr)
c.1397T>A (p.Phe466Tyr)
c.1394T>A (p.Phe465Tyr)
n.1873T>A
c.1601T>A (p.Phe534Tyr)
c.1508T>A (p.Phe503Tyr)
c.830T>A (p.Phe277Tyr)
c.1625T>A (p.Phe542Tyr)
c.1379T>A (p.Phe460Tyr)
9g.89348191T>CCA373989309SECISBP2c.1715T>C (p.Phe572Ser)
c.1496T>C (p.Phe499Ser)
n.44T>C
c.1511T>C (p.Phe504Ser)
c.1712T>C (p.Phe571Ser)
c.1598T>C (p.Phe533Ser)
c.818T>C (p.Phe273Ser)
c.1421T>C (p.Phe474Ser)
c.1397T>C (p.Phe466Ser)
c.1394T>C (p.Phe465Ser)
n.1873T>C
c.1601T>C (p.Phe534Ser)
c.1508T>C (p.Phe503Ser)
c.830T>C (p.Phe277Ser)
c.1625T>C (p.Phe542Ser)
c.1379T>C (p.Phe460Ser)
9g.89348191T>GCA373989307SECISBP2c.1715T>G (p.Phe572Cys)
c.1496T>G (p.Phe499Cys)
n.44T>G
c.1511T>G (p.Phe504Cys)
c.1712T>G (p.Phe571Cys)
c.1598T>G (p.Phe533Cys)
c.818T>G (p.Phe273Cys)
c.1421T>G (p.Phe474Cys)
c.1397T>G (p.Phe466Cys)
c.1394T>G (p.Phe465Cys)
n.1873T>G
c.1601T>G (p.Phe534Cys)
c.1508T>G (p.Phe503Cys)
c.830T>G (p.Phe277Cys)
c.1625T>G (p.Phe542Cys)
c.1379T>G (p.Phe460Cys)
9g.89348192T>ACA373989311SECISBP2c.1716T>A (p.Phe572Leu)
c.1497T>A (p.Phe499Leu)
n.45T>A
c.1512T>A (p.Phe504Leu)
c.1713T>A (p.Phe571Leu)
c.1599T>A (p.Phe533Leu)
c.819T>A (p.Phe273Leu)
c.1422T>A (p.Phe474Leu)
c.1398T>A (p.Phe466Leu)
c.1395T>A (p.Phe465Leu)
n.1874T>A
c.1602T>A (p.Phe534Leu)
c.1509T>A (p.Phe503Leu)
c.831T>A (p.Phe277Leu)
c.1626T>A (p.Phe542Leu)
c.1380T>A (p.Phe460Leu)
9g.89348192T>CCA465790563SECISBP2c.1716T>C (p.Phe572=)
c.1497T>C (p.Phe499=)
n.45T>C
c.1512T>C (p.Phe504=)
c.1713T>C (p.Phe571=)
c.1599T>C (p.Phe533=)
c.819T>C (p.Phe273=)
c.1422T>C (p.Phe474=)
c.1398T>C (p.Phe466=)
c.1395T>C (p.Phe465=)
n.1874T>C
c.1602T>C (p.Phe534=)
c.1509T>C (p.Phe503=)
c.831T>C (p.Phe277=)
c.1626T>C (p.Phe542=)
c.1380T>C (p.Phe460=)
 gnomAD v4
9g.89348192T>GCA373989310SECISBP2c.1716T>G (p.Phe572Leu)
c.1497T>G (p.Phe499Leu)
n.45T>G
c.1512T>G (p.Phe504Leu)
c.1713T>G (p.Phe571Leu)
c.1599T>G (p.Phe533Leu)
c.819T>G (p.Phe273Leu)
c.1422T>G (p.Phe474Leu)
c.1398T>G (p.Phe466Leu)
c.1395T>G (p.Phe465Leu)
n.1874T>G
c.1602T>G (p.Phe534Leu)
c.1509T>G (p.Phe503Leu)
c.831T>G (p.Phe277Leu)
c.1626T>G (p.Phe542Leu)
c.1380T>G (p.Phe460Leu)
9g.89348192T=CA1862788143SECISBP2c.1716T= (p.Phe572=)
c.1497T= (p.Phe499=)
n.45T=
c.1512T= (p.Phe504=)
c.1713T= (p.Phe571=)
c.1599T= (p.Phe533=)
c.819T= (p.Phe273=)
c.1422T= (p.Phe474=)
c.1398T= (p.Phe466=)
c.1395T= (p.Phe465=)
n.1874T=
c.1602T= (p.Phe534=)
c.1509T= (p.Phe503=)
c.831T= (p.Phe277=)
c.1626T= (p.Phe542=)
c.1380T= (p.Phe460=)
9g.89348193C>ACA373989312SECISBP2c.1717C>A (p.Pro573Thr)
c.1498C>A (p.Pro500Thr)
n.46C>A
c.1513C>A (p.Pro505Thr)
c.1714C>A (p.Pro572Thr)
c.1600C>A (p.Pro534Thr)
c.820C>A (p.Pro274Thr)
c.1423C>A (p.Pro475Thr)
c.1399C>A (p.Pro467Thr)
c.1396C>A (p.Pro466Thr)
n.1875C>A
c.1603C>A (p.Pro535Thr)
c.1510C>A (p.Pro504Thr)
c.832C>A (p.Pro278Thr)
c.1627C>A (p.Pro543Thr)
c.1381C>A (p.Pro461Thr)
9g.89348193C>GCA373989314SECISBP2c.1717C>G (p.Pro573Ala)
c.1498C>G (p.Pro500Ala)
n.46C>G
c.1513C>G (p.Pro505Ala)
c.1714C>G (p.Pro572Ala)
c.1600C>G (p.Pro534Ala)
c.820C>G (p.Pro274Ala)
c.1423C>G (p.Pro475Ala)
c.1399C>G (p.Pro467Ala)
c.1396C>G (p.Pro466Ala)
n.1875C>G
c.1603C>G (p.Pro535Ala)
c.1510C>G (p.Pro504Ala)
c.832C>G (p.Pro278Ala)
c.1627C>G (p.Pro543Ala)
c.1381C>G (p.Pro461Ala)
 gnomAD v4
9g.89348193C>TCA373989313SECISBP2c.1717C>T (p.Pro573Ser)
c.1498C>T (p.Pro500Ser)
n.46C>T
c.1513C>T (p.Pro505Ser)
c.1714C>T (p.Pro572Ser)
c.1600C>T (p.Pro534Ser)
c.820C>T (p.Pro274Ser)
c.1423C>T (p.Pro475Ser)
c.1399C>T (p.Pro467Ser)
c.1396C>T (p.Pro466Ser)
n.1875C>T
c.1603C>T (p.Pro535Ser)
c.1510C>T (p.Pro504Ser)
c.832C>T (p.Pro278Ser)
c.1627C>T (p.Pro543Ser)
c.1381C>T (p.Pro461Ser)
9g.89348195dupCA5117534SECISBP2c.1719dup (p.Glu574ArgfsTer21)
c.1500dup (p.Glu501ArgfsTer21)
n.48dup
c.1515dup (p.Glu506ArgfsTer21)
c.1716dup (p.Glu573ArgfsTer21)
c.1602dup (p.Glu535ArgfsTer21)
c.822dup (p.Glu275ArgfsTer21)
c.1425dup (p.Glu476ArgfsTer21)
c.1401dup (p.Glu468ArgfsTer21)
c.1398dup (p.Glu467ArgfsTer21)
n.1877dup
c.1605dup (p.Glu536ArgfsTer21)
c.1512dup (p.Glu505ArgfsTer21)
c.834dup (p.Glu279ArgfsTer21)
c.1629dup (p.Glu544ArgfsTer21)
c.1383dup (p.Glu462ArgfsTer21)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.89348194C>ACA373989315SECISBP2c.1718C>A (p.Pro573His)
c.1499C>A (p.Pro500His)
n.47C>A
c.1514C>A (p.Pro505His)
c.1715C>A (p.Pro572His)
c.1601C>A (p.Pro534His)
c.821C>A (p.Pro274His)
c.1424C>A (p.Pro475His)
c.1400C>A (p.Pro467His)
c.1397C>A (p.Pro466His)
n.1876C>A
c.1604C>A (p.Pro535His)
c.1511C>A (p.Pro504His)
c.833C>A (p.Pro278His)
c.1628C>A (p.Pro543His)
c.1382C>A (p.Pro461His)
 COSMIC
9g.89348194C=CA1862788150SECISBP2c.1718C= (p.Pro573=)
c.1499C= (p.Pro500=)
n.47C=
c.1514C= (p.Pro505=)
c.1715C= (p.Pro572=)
c.1601C= (p.Pro534=)
c.821C= (p.Pro274=)
c.1424C= (p.Pro475=)
c.1400C= (p.Pro467=)
c.1397C= (p.Pro466=)
n.1876C=
c.1604C= (p.Pro535=)
c.1511C= (p.Pro504=)
c.833C= (p.Pro278=)
c.1628C= (p.Pro543=)
c.1382C= (p.Pro461=)
9g.89348194C>GCA373989316SECISBP2c.1718C>G (p.Pro573Arg)
c.1499C>G (p.Pro500Arg)
n.47C>G
c.1514C>G (p.Pro505Arg)
c.1715C>G (p.Pro572Arg)
c.1601C>G (p.Pro534Arg)
c.821C>G (p.Pro274Arg)
c.1424C>G (p.Pro475Arg)
c.1400C>G (p.Pro467Arg)
c.1397C>G (p.Pro466Arg)
n.1876C>G
c.1604C>G (p.Pro535Arg)
c.1511C>G (p.Pro504Arg)
c.833C>G (p.Pro278Arg)
c.1628C>G (p.Pro543Arg)
c.1382C>G (p.Pro461Arg)
 dbSNP
9g.89348194C>TCA373989317SECISBP2c.1718C>T (p.Pro573Leu)
c.1499C>T (p.Pro500Leu)
n.47C>T
c.1514C>T (p.Pro505Leu)
c.1715C>T (p.Pro572Leu)
c.1601C>T (p.Pro534Leu)
c.821C>T (p.Pro274Leu)
c.1424C>T (p.Pro475Leu)
c.1400C>T (p.Pro467Leu)
c.1397C>T (p.Pro466Leu)
n.1876C>T
c.1604C>T (p.Pro535Leu)
c.1511C>T (p.Pro504Leu)
c.833C>T (p.Pro278Leu)
c.1628C>T (p.Pro543Leu)
c.1382C>T (p.Pro461Leu)
9g.89348195C>ACA465790564SECISBP2c.1719C>A (p.Pro573=)
c.1500C>A (p.Pro500=)
n.48C>A
c.1515C>A (p.Pro505=)
c.1716C>A (p.Pro572=)
c.1602C>A (p.Pro534=)
c.822C>A (p.Pro274=)
c.1425C>A (p.Pro475=)
c.1401C>A (p.Pro467=)
c.1398C>A (p.Pro466=)
n.1877C>A
c.1605C>A (p.Pro535=)
c.1512C>A (p.Pro504=)
c.834C>A (p.Pro278=)
c.1629C>A (p.Pro543=)
c.1383C>A (p.Pro461=)
9g.89348195C=CA1862788156SECISBP2c.1719C= (p.Pro573=)
c.1500C= (p.Pro500=)
n.48C=
c.1515C= (p.Pro505=)
c.1716C= (p.Pro572=)
c.1602C= (p.Pro534=)
c.822C= (p.Pro274=)
c.1425C= (p.Pro475=)
c.1401C= (p.Pro467=)
c.1398C= (p.Pro466=)
n.1877C=
c.1605C= (p.Pro535=)
c.1512C= (p.Pro504=)
c.834C= (p.Pro278=)
c.1629C= (p.Pro543=)
c.1383C= (p.Pro461=)
9g.89348195C>GCA465790565SECISBP2c.1719C>G (p.Pro573=)
c.1500C>G (p.Pro500=)
n.48C>G
c.1515C>G (p.Pro505=)
c.1716C>G (p.Pro572=)
c.1602C>G (p.Pro534=)
c.822C>G (p.Pro274=)
c.1425C>G (p.Pro475=)
c.1401C>G (p.Pro467=)
c.1398C>G (p.Pro466=)
n.1877C>G
c.1605C>G (p.Pro535=)
c.1512C>G (p.Pro504=)
c.834C>G (p.Pro278=)
c.1629C>G (p.Pro543=)
c.1383C>G (p.Pro461=)
 gnomAD v4
9g.89348195C>TCA5117535SECISBP2c.1719C>T (p.Pro573=)
c.1500C>T (p.Pro500=)
n.48C>T
c.1515C>T (p.Pro505=)
c.1716C>T (p.Pro572=)
c.1602C>T (p.Pro534=)
c.822C>T (p.Pro274=)
c.1425C>T (p.Pro475=)
c.1401C>T (p.Pro467=)
c.1398C>T (p.Pro466=)
n.1877C>T
c.1605C>T (p.Pro535=)
c.1512C>T (p.Pro504=)
c.834C>T (p.Pro278=)
c.1629C>T (p.Pro543=)
c.1383C>T (p.Pro461=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.89348196G>ACA5117536SECISBP2c.1720G>A (p.Glu574Lys)
c.1501G>A (p.Glu501Lys)
n.49G>A
c.1516G>A (p.Glu506Lys)
c.1717G>A (p.Glu573Lys)
c.1603G>A (p.Glu535Lys)
c.823G>A (p.Glu275Lys)
c.1426G>A (p.Glu476Lys)
c.1402G>A (p.Glu468Lys)
c.1399G>A (p.Glu467Lys)
n.1878G>A
c.1606G>A (p.Glu536Lys)
c.1513G>A (p.Glu505Lys)
c.835G>A (p.Glu279Lys)
c.1630G>A (p.Glu544Lys)
c.1384G>A (p.Glu462Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.89348196G>CCA373989318SECISBP2c.1720G>C (p.Glu574Gln)
c.1501G>C (p.Glu501Gln)
n.49G>C
c.1516G>C (p.Glu506Gln)
c.1717G>C (p.Glu573Gln)
c.1603G>C (p.Glu535Gln)
c.823G>C (p.Glu275Gln)
c.1426G>C (p.Glu476Gln)
c.1402G>C (p.Glu468Gln)
c.1399G>C (p.Glu467Gln)
n.1878G>C
c.1606G>C (p.Glu536Gln)
c.1513G>C (p.Glu505Gln)
c.835G>C (p.Glu279Gln)
c.1630G>C (p.Glu544Gln)
c.1384G>C (p.Glu462Gln)
 dbSNP
9g.89348196G=CA1862788160SECISBP2c.1720G= (p.Glu574=)
c.1501G= (p.Glu501=)
n.49G=
c.1516G= (p.Glu506=)
c.1717G= (p.Glu573=)
c.1603G= (p.Glu535=)
c.823G= (p.Glu275=)
c.1426G= (p.Glu476=)
c.1402G= (p.Glu468=)
c.1399G= (p.Glu467=)
n.1878G=
c.1606G= (p.Glu536=)
c.1513G= (p.Glu505=)
c.835G= (p.Glu279=)
c.1630G= (p.Glu544=)
c.1384G= (p.Glu462=)
9g.89348196G>TCA373989319SECISBP2c.1720G>T (p.Glu574Ter)
c.1501G>T (p.Glu501Ter)
n.49G>T
c.1516G>T (p.Glu506Ter)
c.1717G>T (p.Glu573Ter)
c.1603G>T (p.Glu535Ter)
c.823G>T (p.Glu275Ter)
c.1426G>T (p.Glu476Ter)
c.1402G>T (p.Glu468Ter)
c.1399G>T (p.Glu467Ter)
n.1878G>T
c.1606G>T (p.Glu536Ter)
c.1513G>T (p.Glu505Ter)
c.835G>T (p.Glu279Ter)
c.1630G>T (p.Glu544Ter)
c.1384G>T (p.Glu462Ter)
9g.89348197A>CCA373989320SECISBP2c.1721A>C (p.Glu574Ala)
c.1502A>C (p.Glu501Ala)
n.50A>C
c.1517A>C (p.Glu506Ala)
c.1718A>C (p.Glu573Ala)
c.1604A>C (p.Glu535Ala)
c.824A>C (p.Glu275Ala)
c.1427A>C (p.Glu476Ala)
c.1403A>C (p.Glu468Ala)
c.1400A>C (p.Glu467Ala)
n.1879A>C
c.1607A>C (p.Glu536Ala)
c.1514A>C (p.Glu505Ala)
c.836A>C (p.Glu279Ala)
c.1631A>C (p.Glu544Ala)
c.1385A>C (p.Glu462Ala)
9g.89348197A>GCA373989321SECISBP2c.1721A>G (p.Glu574Gly)
c.1502A>G (p.Glu501Gly)
n.50A>G
c.1517A>G (p.Glu506Gly)
c.1718A>G (p.Glu573Gly)
c.1604A>G (p.Glu535Gly)
c.824A>G (p.Glu275Gly)
c.1427A>G (p.Glu476Gly)
c.1403A>G (p.Glu468Gly)
c.1400A>G (p.Glu467Gly)
n.1879A>G
c.1607A>G (p.Glu536Gly)
c.1514A>G (p.Glu505Gly)
c.836A>G (p.Glu279Gly)
c.1631A>G (p.Glu544Gly)
c.1385A>G (p.Glu462Gly)
9g.89348197A>TCA373989322SECISBP2c.1721A>T (p.Glu574Val)
c.1502A>T (p.Glu501Val)
n.50A>T
c.1517A>T (p.Glu506Val)
c.1718A>T (p.Glu573Val)
c.1604A>T (p.Glu535Val)
c.824A>T (p.Glu275Val)
c.1427A>T (p.Glu476Val)
c.1403A>T (p.Glu468Val)
c.1400A>T (p.Glu467Val)
n.1879A>T
c.1607A>T (p.Glu536Val)
c.1514A>T (p.Glu505Val)
c.836A>T (p.Glu279Val)
c.1631A>T (p.Glu544Val)
c.1385A>T (p.Glu462Val)
9g.89348198G>ACA465790566SECISBP2c.1722G>A (p.Glu574=)
c.1503G>A (p.Glu501=)
n.51G>A
c.1518G>A (p.Glu506=)
c.1719G>A (p.Glu573=)
c.1605G>A (p.Glu535=)
c.825G>A (p.Glu275=)
c.1428G>A (p.Glu476=)
c.1404G>A (p.Glu468=)
c.1401G>A (p.Glu467=)
n.1880G>A
c.1608G>A (p.Glu536=)
c.1515G>A (p.Glu505=)
c.837G>A (p.Glu279=)
c.1632G>A (p.Glu544=)
c.1386G>A (p.Glu462=)
9g.89348198G>CCA373989323SECISBP2c.1722G>C (p.Glu574Asp)
c.1503G>C (p.Glu501Asp)
n.51G>C
c.1518G>C (p.Glu506Asp)
c.1719G>C (p.Glu573Asp)
c.1605G>C (p.Glu535Asp)
c.825G>C (p.Glu275Asp)
c.1428G>C (p.Glu476Asp)
c.1404G>C (p.Glu468Asp)
c.1401G>C (p.Glu467Asp)
n.1880G>C
c.1608G>C (p.Glu536Asp)
c.1515G>C (p.Glu505Asp)
c.837G>C (p.Glu279Asp)
c.1632G>C (p.Glu544Asp)
c.1386G>C (p.Glu462Asp)
9g.89348198G>TCA373989324SECISBP2c.1722G>T (p.Glu574Asp)
c.1503G>T (p.Glu501Asp)
n.51G>T
c.1518G>T (p.Glu506Asp)
c.1719G>T (p.Glu573Asp)
c.1605G>T (p.Glu535Asp)
c.825G>T (p.Glu275Asp)
c.1428G>T (p.Glu476Asp)
c.1404G>T (p.Glu468Asp)
c.1401G>T (p.Glu467Asp)
n.1880G>T
c.1608G>T (p.Glu536Asp)
c.1515G>T (p.Glu505Asp)
c.837G>T (p.Glu279Asp)
c.1632G>T (p.Glu544Asp)
c.1386G>T (p.Glu462Asp)
9g.89348199C>ACA373989327SECISBP2c.1723C>A (p.Gln575Lys)
c.1504C>A (p.Gln502Lys)
n.52C>A
c.1519C>A (p.Gln507Lys)
c.1720C>A (p.Gln574Lys)
c.1606C>A (p.Gln536Lys)
c.826C>A (p.Gln276Lys)
c.1429C>A (p.Gln477Lys)
c.1405C>A (p.Gln469Lys)
c.1402C>A (p.Gln468Lys)
n.1881C>A
c.1609C>A (p.Gln537Lys)
c.1516C>A (p.Gln506Lys)
c.838C>A (p.Gln280Lys)
c.1633C>A (p.Gln545Lys)
c.1387C>A (p.Gln463Lys)
9g.89348199C>GCA373989325SECISBP2c.1723C>G (p.Gln575Glu)
c.1504C>G (p.Gln502Glu)
n.52C>G
c.1519C>G (p.Gln507Glu)
c.1720C>G (p.Gln574Glu)
c.1606C>G (p.Gln536Glu)
c.826C>G (p.Gln276Glu)
c.1429C>G (p.Gln477Glu)
c.1405C>G (p.Gln469Glu)
c.1402C>G (p.Gln468Glu)
n.1881C>G
c.1609C>G (p.Gln537Glu)
c.1516C>G (p.Gln506Glu)
c.838C>G (p.Gln280Glu)
c.1633C>G (p.Gln545Glu)
c.1387C>G (p.Gln463Glu)
9g.89348199C>TCA373989326SECISBP2c.1723C>T (p.Gln575Ter)
c.1504C>T (p.Gln502Ter)
n.52C>T
c.1519C>T (p.Gln507Ter)
c.1720C>T (p.Gln574Ter)
c.1606C>T (p.Gln536Ter)
c.826C>T (p.Gln276Ter)
c.1429C>T (p.Gln477Ter)
c.1405C>T (p.Gln469Ter)
c.1402C>T (p.Gln468Ter)
n.1881C>T
c.1609C>T (p.Gln537Ter)
c.1516C>T (p.Gln506Ter)
c.838C>T (p.Gln280Ter)
c.1633C>T (p.Gln545Ter)
c.1387C>T (p.Gln463Ter)
9g.89348200A>CCA373989328SECISBP2c.1724A>C (p.Gln575Pro)
c.1505A>C (p.Gln502Pro)
n.53A>C
c.1520A>C (p.Gln507Pro)
c.1721A>C (p.Gln574Pro)
c.1607A>C (p.Gln536Pro)
c.827A>C (p.Gln276Pro)
c.1430A>C (p.Gln477Pro)
c.1406A>C (p.Gln469Pro)
c.1403A>C (p.Gln468Pro)
n.1882A>C
c.1610A>C (p.Gln537Pro)
c.1517A>C (p.Gln506Pro)
c.839A>C (p.Gln280Pro)
c.1634A>C (p.Gln545Pro)
c.1388A>C (p.Gln463Pro)
9g.89348200A>GCA373989329SECISBP2c.1724A>G (p.Gln575Arg)
c.1505A>G (p.Gln502Arg)
n.53A>G
c.1520A>G (p.Gln507Arg)
c.1721A>G (p.Gln574Arg)
c.1607A>G (p.Gln536Arg)
c.827A>G (p.Gln276Arg)
c.1430A>G (p.Gln477Arg)
c.1406A>G (p.Gln469Arg)
c.1403A>G (p.Gln468Arg)
n.1882A>G
c.1610A>G (p.Gln537Arg)
c.1517A>G (p.Gln506Arg)
c.839A>G (p.Gln280Arg)
c.1634A>G (p.Gln545Arg)
c.1388A>G (p.Gln463Arg)
9g.89348200A>TCA373989330SECISBP2c.1724A>T (p.Gln575Leu)
c.1505A>T (p.Gln502Leu)
n.53A>T
c.1520A>T (p.Gln507Leu)
c.1721A>T (p.Gln574Leu)
c.1607A>T (p.Gln536Leu)
c.827A>T (p.Gln276Leu)
c.1430A>T (p.Gln477Leu)
c.1406A>T (p.Gln469Leu)
c.1403A>T (p.Gln468Leu)
n.1882A>T
c.1610A>T (p.Gln537Leu)
c.1517A>T (p.Gln506Leu)
c.839A>T (p.Gln280Leu)
c.1634A>T (p.Gln545Leu)
c.1388A>T (p.Gln463Leu)
9g.89348201G>ACA465790567SECISBP2c.1725G>A (p.Gln575=)
c.1506G>A (p.Gln502=)
n.54G>A
c.1521G>A (p.Gln507=)
c.1722G>A (p.Gln574=)
c.1608G>A (p.Gln536=)
c.828G>A (p.Gln276=)
c.1431G>A (p.Gln477=)
c.1407G>A (p.Gln469=)
c.1404G>A (p.Gln468=)
n.1883G>A
c.1611G>A (p.Gln537=)
c.1518G>A (p.Gln506=)
c.840G>A (p.Gln280=)
c.1635G>A (p.Gln545=)
c.1389G>A (p.Gln463=)
9g.89348201G>CCA373989331SECISBP2c.1725G>C (p.Gln575His)
c.1506G>C (p.Gln502His)
n.54G>C
c.1521G>C (p.Gln507His)
c.1722G>C (p.Gln574His)
c.1608G>C (p.Gln536His)
c.828G>C (p.Gln276His)
c.1431G>C (p.Gln477His)
c.1407G>C (p.Gln469His)
c.1404G>C (p.Gln468His)
n.1883G>C
c.1611G>C (p.Gln537His)
c.1518G>C (p.Gln506His)
c.840G>C (p.Gln280His)
c.1635G>C (p.Gln545His)
c.1389G>C (p.Gln463His)
 gnomAD v4
9g.89348201G>TCA373989332SECISBP2c.1725G>T (p.Gln575His)
c.1506G>T (p.Gln502His)
n.54G>T
c.1521G>T (p.Gln507His)
c.1722G>T (p.Gln574His)
c.1608G>T (p.Gln536His)
c.828G>T (p.Gln276His)
c.1431G>T (p.Gln477His)
c.1407G>T (p.Gln469His)
c.1404G>T (p.Gln468His)
n.1883G>T
c.1611G>T (p.Gln537His)
c.1518G>T (p.Gln506His)
c.840G>T (p.Gln280His)
c.1635G>T (p.Gln545His)
c.1389G>T (p.Gln463His)
9g.89348202G>ACA373989333SECISBP2c.1726G>A (p.Ala576Thr)
c.1507G>A (p.Ala503Thr)
n.55G>A
c.1522G>A (p.Ala508Thr)
c.1723G>A (p.Ala575Thr)
c.1609G>A (p.Ala537Thr)
c.829G>A (p.Ala277Thr)
c.1432G>A (p.Ala478Thr)
c.1408G>A (p.Ala470Thr)
c.1405G>A (p.Ala469Thr)
n.1884G>A
c.1612G>A (p.Ala538Thr)
c.1519G>A (p.Ala507Thr)
c.841G>A (p.Ala281Thr)
c.1636G>A (p.Ala546Thr)
c.1390G>A (p.Ala464Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.89348202G>CCA373989334SECISBP2c.1726G>C (p.Ala576Pro)
c.1507G>C (p.Ala503Pro)
n.55G>C
c.1522G>C (p.Ala508Pro)
c.1723G>C (p.Ala575Pro)
c.1609G>C (p.Ala537Pro)
c.829G>C (p.Ala277Pro)
c.1432G>C (p.Ala478Pro)
c.1408G>C (p.Ala470Pro)
c.1405G>C (p.Ala469Pro)
n.1884G>C
c.1612G>C (p.Ala538Pro)
c.1519G>C (p.Ala507Pro)
c.841G>C (p.Ala281Pro)
c.1636G>C (p.Ala546Pro)
c.1390G>C (p.Ala464Pro)
9g.89348202G=CA1862788163SECISBP2c.1726G= (p.Ala576=)
c.1507G= (p.Ala503=)
n.55G=
c.1522G= (p.Ala508=)
c.1723G= (p.Ala575=)
c.1609G= (p.Ala537=)
c.829G= (p.Ala277=)
c.1432G= (p.Ala478=)
c.1408G= (p.Ala470=)
c.1405G= (p.Ala469=)
n.1884G=
c.1612G= (p.Ala538=)
c.1519G= (p.Ala507=)
c.841G= (p.Ala281=)
c.1636G= (p.Ala546=)
c.1390G= (p.Ala464=)
9g.89348202G>TCA373989335SECISBP2c.1726G>T (p.Ala576Ser)
c.1507G>T (p.Ala503Ser)
n.55G>T
c.1522G>T (p.Ala508Ser)
c.1723G>T (p.Ala575Ser)
c.1609G>T (p.Ala537Ser)
c.829G>T (p.Ala277Ser)
c.1432G>T (p.Ala478Ser)
c.1408G>T (p.Ala470Ser)
c.1405G>T (p.Ala469Ser)
n.1884G>T
c.1612G>T (p.Ala538Ser)
c.1519G>T (p.Ala507Ser)
c.841G>T (p.Ala281Ser)
c.1636G>T (p.Ala546Ser)
c.1390G>T (p.Ala464Ser)
9g.89348203C>ACA373989336SECISBP2c.1727C>A (p.Ala576Glu)
c.1508C>A (p.Ala503Glu)
n.56C>A
c.1523C>A (p.Ala508Glu)
c.1724C>A (p.Ala575Glu)
c.1610C>A (p.Ala537Glu)
c.830C>A (p.Ala277Glu)
c.1433C>A (p.Ala478Glu)
c.1409C>A (p.Ala470Glu)
c.1406C>A (p.Ala469Glu)
n.1885C>A
c.1613C>A (p.Ala538Glu)
c.1520C>A (p.Ala507Glu)
c.842C>A (p.Ala281Glu)
c.1637C>A (p.Ala546Glu)
c.1391C>A (p.Ala464Glu)
9g.89348203C=CA1862788166SECISBP2c.1727C= (p.Ala576=)
c.1508C= (p.Ala503=)
n.56C=
c.1523C= (p.Ala508=)
c.1724C= (p.Ala575=)
c.1610C= (p.Ala537=)
c.830C= (p.Ala277=)
c.1433C= (p.Ala478=)
c.1409C= (p.Ala470=)
c.1406C= (p.Ala469=)
n.1885C=
c.1613C= (p.Ala538=)
c.1520C= (p.Ala507=)
c.842C= (p.Ala281=)
c.1637C= (p.Ala546=)
c.1391C= (p.Ala464=)
9g.89348203C>GCA373989337SECISBP2c.1727C>G (p.Ala576Gly)
c.1508C>G (p.Ala503Gly)
n.56C>G
c.1523C>G (p.Ala508Gly)
c.1724C>G (p.Ala575Gly)
c.1610C>G (p.Ala537Gly)
c.830C>G (p.Ala277Gly)
c.1433C>G (p.Ala478Gly)
c.1409C>G (p.Ala470Gly)
c.1406C>G (p.Ala469Gly)
n.1885C>G
c.1613C>G (p.Ala538Gly)
c.1520C>G (p.Ala507Gly)
c.842C>G (p.Ala281Gly)
c.1637C>G (p.Ala546Gly)
c.1391C>G (p.Ala464Gly)
9g.89348203C>TCA373989338SECISBP2c.1727C>T (p.Ala576Val)
c.1508C>T (p.Ala503Val)
n.56C>T
c.1523C>T (p.Ala508Val)
c.1724C>T (p.Ala575Val)
c.1610C>T (p.Ala537Val)
c.830C>T (p.Ala277Val)
c.1433C>T (p.Ala478Val)
c.1409C>T (p.Ala470Val)
c.1406C>T (p.Ala469Val)
n.1885C>T
c.1613C>T (p.Ala538Val)
c.1520C>T (p.Ala507Val)
c.842C>T (p.Ala281Val)
c.1637C>T (p.Ala546Val)
c.1391C>T (p.Ala464Val)
 dbSNP
9g.89348204A=CA1862788169SECISBP2c.1728A= (p.Ala576=)
c.1509A= (p.Ala503=)
n.57A=
c.1524A= (p.Ala508=)
c.1725A= (p.Ala575=)
c.1611A= (p.Ala537=)
c.831A= (p.Ala277=)
c.1434A= (p.Ala478=)
c.1410A= (p.Ala470=)
c.1407A= (p.Ala469=)
n.1886A=
c.1614A= (p.Ala538=)
c.1521A= (p.Ala507=)
c.843A= (p.Ala281=)
c.1638A= (p.Ala546=)
c.1392A= (p.Ala464=)
9g.89348204A>CCA195694441SECISBP2c.1728A>C (p.Ala576=)
c.1509A>C (p.Ala503=)
n.57A>C
c.1524A>C (p.Ala508=)
c.1725A>C (p.Ala575=)
c.1611A>C (p.Ala537=)
c.831A>C (p.Ala277=)
c.1434A>C (p.Ala478=)
c.1410A>C (p.Ala470=)
c.1407A>C (p.Ala469=)
n.1886A>C
c.1614A>C (p.Ala538=)
c.1521A>C (p.Ala507=)
c.843A>C (p.Ala281=)
c.1638A>C (p.Ala546=)
c.1392A>C (p.Ala464=)
 dbSNP gnomAD v3 gnomAD v4
9g.89348204A>GCA465790568SECISBP2c.1728A>G (p.Ala576=)
c.1509A>G (p.Ala503=)
n.57A>G
c.1524A>G (p.Ala508=)
c.1725A>G (p.Ala575=)
c.1611A>G (p.Ala537=)
c.831A>G (p.Ala277=)
c.1434A>G (p.Ala478=)
c.1410A>G (p.Ala470=)
c.1407A>G (p.Ala469=)
n.1886A>G
c.1614A>G (p.Ala538=)
c.1521A>G (p.Ala507=)
c.843A>G (p.Ala281=)
c.1638A>G (p.Ala546=)
c.1392A>G (p.Ala464=)
 dbSNP
9g.89348204A>TCA465790569SECISBP2c.1728A>T (p.Ala576=)
c.1509A>T (p.Ala503=)
n.57A>T
c.1524A>T (p.Ala508=)
c.1725A>T (p.Ala575=)
c.1611A>T (p.Ala537=)
c.831A>T (p.Ala277=)
c.1434A>T (p.Ala478=)
c.1410A>T (p.Ala470=)
c.1407A>T (p.Ala469=)
n.1886A>T
c.1614A>T (p.Ala538=)
c.1521A>T (p.Ala507=)
c.843A>T (p.Ala281=)
c.1638A>T (p.Ala546=)
c.1392A>T (p.Ala464=)
9g.89348205G>ACA373989341SECISBP2c.1729G>A (p.Glu577Lys)
c.1510G>A (p.Glu504Lys)
n.58G>A
c.1525G>A (p.Glu509Lys)
c.1726G>A (p.Glu576Lys)
c.1612G>A (p.Glu538Lys)
c.832G>A (p.Glu278Lys)
c.1435G>A (p.Glu479Lys)
c.1411G>A (p.Glu471Lys)
c.1408G>A (p.Glu470Lys)
n.1887G>A
c.1615G>A (p.Glu539Lys)
c.1522G>A (p.Glu508Lys)
c.844G>A (p.Glu282Lys)
c.1639G>A (p.Glu547Lys)
c.1393G>A (p.Glu465Lys)
9g.89348205G>CCA373989340SECISBP2c.1729G>C (p.Glu577Gln)
c.1510G>C (p.Glu504Gln)
n.58G>C
c.1525G>C (p.Glu509Gln)
c.1726G>C (p.Glu576Gln)
c.1612G>C (p.Glu538Gln)
c.832G>C (p.Glu278Gln)
c.1435G>C (p.Glu479Gln)
c.1411G>C (p.Glu471Gln)
c.1408G>C (p.Glu470Gln)
n.1887G>C
c.1615G>C (p.Glu539Gln)
c.1522G>C (p.Glu508Gln)
c.844G>C (p.Glu282Gln)
c.1639G>C (p.Glu547Gln)
c.1393G>C (p.Glu465Gln)
9g.89348205G>TCA373989339SECISBP2c.1729G>T (p.Glu577Ter)
c.1510G>T (p.Glu504Ter)
n.58G>T
c.1525G>T (p.Glu509Ter)
c.1726G>T (p.Glu576Ter)
c.1612G>T (p.Glu538Ter)
c.832G>T (p.Glu278Ter)
c.1435G>T (p.Glu479Ter)
c.1411G>T (p.Glu471Ter)
c.1408G>T (p.Glu470Ter)
n.1887G>T
c.1615G>T (p.Glu539Ter)
c.1522G>T (p.Glu508Ter)
c.844G>T (p.Glu282Ter)
c.1639G>T (p.Glu547Ter)
c.1393G>T (p.Glu465Ter)
9g.89348206A>CCA373989342SECISBP2c.1730A>C (p.Glu577Ala)
c.1511A>C (p.Glu504Ala)
n.59A>C
c.1526A>C (p.Glu509Ala)
c.1727A>C (p.Glu576Ala)
c.1613A>C (p.Glu538Ala)
c.833A>C (p.Glu278Ala)
c.1436A>C (p.Glu479Ala)
c.1412A>C (p.Glu471Ala)
c.1409A>C (p.Glu470Ala)
n.1888A>C
c.1616A>C (p.Glu539Ala)
c.1523A>C (p.Glu508Ala)
c.845A>C (p.Glu282Ala)
c.1640A>C (p.Glu547Ala)
c.1394A>C (p.Glu465Ala)
9g.89348206A>GCA373989343SECISBP2c.1730A>G (p.Glu577Gly)
c.1511A>G (p.Glu504Gly)
n.59A>G
c.1526A>G (p.Glu509Gly)
c.1727A>G (p.Glu576Gly)
c.1613A>G (p.Glu538Gly)
c.833A>G (p.Glu278Gly)
c.1436A>G (p.Glu479Gly)
c.1412A>G (p.Glu471Gly)
c.1409A>G (p.Glu470Gly)
n.1888A>G
c.1616A>G (p.Glu539Gly)
c.1523A>G (p.Glu508Gly)
c.845A>G (p.Glu282Gly)
c.1640A>G (p.Glu547Gly)
c.1394A>G (p.Glu465Gly)
9g.89348206A>TCA373989344SECISBP2c.1730A>T (p.Glu577Val)
c.1511A>T (p.Glu504Val)
n.59A>T
c.1526A>T (p.Glu509Val)
c.1727A>T (p.Glu576Val)
c.1613A>T (p.Glu538Val)
c.833A>T (p.Glu278Val)
c.1436A>T (p.Glu479Val)
c.1412A>T (p.Glu471Val)
c.1409A>T (p.Glu470Val)
n.1888A>T
c.1616A>T (p.Glu539Val)
c.1523A>T (p.Glu508Val)
c.845A>T (p.Glu282Val)
c.1640A>T (p.Glu547Val)
c.1394A>T (p.Glu465Val)
 dbSNP
9g.89348207G>ACA465790570SECISBP2c.1731G>A (p.Glu577=)
c.1512G>A (p.Glu504=)
n.60G>A
c.1527G>A (p.Glu509=)
c.1728G>A (p.Glu576=)
c.1614G>A (p.Glu538=)
c.834G>A (p.Glu278=)
c.1437G>A (p.Glu479=)
c.1413G>A (p.Glu471=)
c.1410G>A (p.Glu470=)
n.1889G>A
c.1617G>A (p.Glu539=)
c.1524G>A (p.Glu508=)
c.846G>A (p.Glu282=)
c.1641G>A (p.Glu547=)
c.1395G>A (p.Glu465=)
9g.89348207G>CCA373989345SECISBP2c.1731G>C (p.Glu577Asp)
c.1512G>C (p.Glu504Asp)
n.60G>C
c.1527G>C (p.Glu509Asp)
c.1728G>C (p.Glu576Asp)
c.1614G>C (p.Glu538Asp)
c.834G>C (p.Glu278Asp)
c.1437G>C (p.Glu479Asp)
c.1413G>C (p.Glu471Asp)
c.1410G>C (p.Glu470Asp)
n.1889G>C
c.1617G>C (p.Glu539Asp)
c.1524G>C (p.Glu508Asp)
c.846G>C (p.Glu282Asp)
c.1641G>C (p.Glu547Asp)
c.1395G>C (p.Glu465Asp)
9g.89348207G>TCA373989346SECISBP2c.1731G>T (p.Glu577Asp)
c.1512G>T (p.Glu504Asp)
n.60G>T
c.1527G>T (p.Glu509Asp)
c.1728G>T (p.Glu576Asp)
c.1614G>T (p.Glu538Asp)
c.834G>T (p.Glu278Asp)
c.1437G>T (p.Glu479Asp)
c.1413G>T (p.Glu471Asp)
c.1410G>T (p.Glu470Asp)
n.1889G>T
c.1617G>T (p.Glu539Asp)
c.1524G>T (p.Glu508Asp)
c.846G>T (p.Glu282Asp)
c.1641G>T (p.Glu547Asp)
c.1395G>T (p.Glu465Asp)
 gnomAD v4

Number of alleles fetched