Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.66455465C>ACA16609528GRIP1c.1367G>T (p.Ser456Ile)
c.1298G>T (p.Ser433Ile)
c.1142G>T (p.Ser381Ile)
c.404G>T
c.874+7459G>T (n.874+7459G>T)
c.742G>T
c.974G>T (p.Ser325Ile)
c.337+60154G>T (n.337+60154G>T)
c.600G>T
c.1301G>T (p.Ser434Ile)
c.1220G>T (p.Ser407Ile)
c.1523G>T (p.Ser508Ile)
c.1130G>T (p.Ser377Ile)
c.1217G>T (p.Ser406Ile)
c.1376G>T (p.Ser459Ile)
c.1145G>T (p.Ser382Ile)
 ClinVar dbSNP
12g.66455465C=CA2043057191GRIP1c.1367G= (p.Ser456=)
c.1298G= (p.Ser433=)
c.1142G= (p.Ser381=)
c.404G=
c.874+7459G= (n.874+7459G=)
c.742G=
c.974G= (p.Ser325=)
c.337+60154G= (n.337+60154G=)
c.600G=
c.1301G= (p.Ser434=)
c.1220G= (p.Ser407=)
c.1523G= (p.Ser508=)
c.1130G= (p.Ser377=)
c.1217G= (p.Ser406=)
c.1376G= (p.Ser459=)
c.1145G= (p.Ser382=)
12g.66455465C>GCA385625941GRIP1c.1367G>C (p.Ser456Thr)
c.1298G>C (p.Ser433Thr)
c.1142G>C (p.Ser381Thr)
c.404G>C
c.874+7459G>C (n.874+7459G>C)
c.742G>C
c.974G>C (p.Ser325Thr)
c.337+60154G>C (n.337+60154G>C)
c.600G>C
c.1301G>C (p.Ser434Thr)
c.1220G>C (p.Ser407Thr)
c.1523G>C (p.Ser508Thr)
c.1130G>C (p.Ser377Thr)
c.1217G>C (p.Ser406Thr)
c.1376G>C (p.Ser459Thr)
c.1145G>C (p.Ser382Thr)
12g.66455465C>TCA385625938GRIP1c.1367G>A (p.Ser456Asn)
c.1298G>A (p.Ser433Asn)
c.1142G>A (p.Ser381Asn)
c.404G>A
c.874+7459G>A (n.874+7459G>A)
c.742G>A
c.974G>A (p.Ser325Asn)
c.337+60154G>A (n.337+60154G>A)
c.600G>A
c.1301G>A (p.Ser434Asn)
c.1220G>A (p.Ser407Asn)
c.1523G>A (p.Ser508Asn)
c.1130G>A (p.Ser377Asn)
c.1217G>A (p.Ser406Asn)
c.1376G>A (p.Ser459Asn)
c.1145G>A (p.Ser382Asn)
12g.66455466T>ACA385625943GRIP1c.1366A>T (p.Ser456Cys)
c.1297A>T (p.Ser433Cys)
c.1141A>T (p.Ser381Cys)
c.403A>T
c.874+7458A>T (n.874+7458A>T)
c.741A>T
c.973A>T (p.Ser325Cys)
c.337+60153A>T (n.337+60153A>T)
c.599A>T
c.1300A>T (p.Ser434Cys)
c.1219A>T (p.Ser407Cys)
c.1522A>T (p.Ser508Cys)
c.1129A>T (p.Ser377Cys)
c.1216A>T (p.Ser406Cys)
c.1375A>T (p.Ser459Cys)
c.1144A>T (p.Ser382Cys)
12g.66455466T>CCA385625946GRIP1c.1366A>G (p.Ser456Gly)
c.1297A>G (p.Ser433Gly)
c.1141A>G (p.Ser381Gly)
c.403A>G
c.874+7458A>G (n.874+7458A>G)
c.741A>G
c.973A>G (p.Ser325Gly)
c.337+60153A>G (n.337+60153A>G)
c.599A>G
c.1300A>G (p.Ser434Gly)
c.1219A>G (p.Ser407Gly)
c.1522A>G (p.Ser508Gly)
c.1129A>G (p.Ser377Gly)
c.1216A>G (p.Ser406Gly)
c.1375A>G (p.Ser459Gly)
c.1144A>G (p.Ser382Gly)
 gnomAD v4
12g.66455466T>GCA385625948GRIP1c.1366A>C (p.Ser456Arg)
c.1297A>C (p.Ser433Arg)
c.1141A>C (p.Ser381Arg)
c.403A>C
c.874+7458A>C (n.874+7458A>C)
c.741A>C
c.973A>C (p.Ser325Arg)
c.337+60153A>C (n.337+60153A>C)
c.599A>C
c.1300A>C (p.Ser434Arg)
c.1219A>C (p.Ser407Arg)
c.1522A>C (p.Ser508Arg)
c.1129A>C (p.Ser377Arg)
c.1216A>C (p.Ser406Arg)
c.1375A>C (p.Ser459Arg)
c.1144A>C (p.Ser382Arg)
12g.66455467G>ACA480573927GRIP1c.1365C>T (p.Thr455=)
c.1296C>T (p.Thr432=)
c.1140C>T (p.Thr380=)
c.402C>T
c.874+7457C>T (n.874+7457C>T)
c.740C>T
c.972C>T (p.Thr324=)
c.337+60152C>T (n.337+60152C>T)
c.598C>T
c.1299C>T (p.Thr433=)
c.1218C>T (p.Thr406=)
c.1521C>T (p.Thr507=)
c.1128C>T (p.Thr376=)
c.1215C>T (p.Thr405=)
c.1374C>T (p.Thr458=)
c.1143C>T (p.Thr381=)
12g.66455467G>CCA480573928GRIP1c.1365C>G (p.Thr455=)
c.1296C>G (p.Thr432=)
c.1140C>G (p.Thr380=)
c.402C>G
c.874+7457C>G (n.874+7457C>G)
c.740C>G
c.972C>G (p.Thr324=)
c.337+60152C>G (n.337+60152C>G)
c.598C>G
c.1299C>G (p.Thr433=)
c.1218C>G (p.Thr406=)
c.1521C>G (p.Thr507=)
c.1128C>G (p.Thr376=)
c.1215C>G (p.Thr405=)
c.1374C>G (p.Thr458=)
c.1143C>G (p.Thr381=)
12g.66455467G>TCA480573929GRIP1c.1365C>A (p.Thr455=)
c.1296C>A (p.Thr432=)
c.1140C>A (p.Thr380=)
c.402C>A
c.874+7457C>A (n.874+7457C>A)
c.740C>A
c.972C>A (p.Thr324=)
c.337+60152C>A (n.337+60152C>A)
c.598C>A
c.1299C>A (p.Thr433=)
c.1218C>A (p.Thr406=)
c.1521C>A (p.Thr507=)
c.1128C>A (p.Thr376=)
c.1215C>A (p.Thr405=)
c.1374C>A (p.Thr458=)
c.1143C>A (p.Thr381=)
12g.66455468G>ACA6674416GRIP1c.1364C>T (p.Thr455Ile)
c.1295C>T (p.Thr432Ile)
c.1139C>T (p.Thr380Ile)
c.401C>T
c.874+7456C>T (n.874+7456C>T)
c.739C>T
c.971C>T (p.Thr324Ile)
c.337+60151C>T (n.337+60151C>T)
c.597C>T
c.1298C>T (p.Thr433Ile)
c.1217C>T (p.Thr406Ile)
c.1520C>T (p.Thr507Ile)
c.1127C>T (p.Thr376Ile)
c.1214C>T (p.Thr405Ile)
c.1373C>T (p.Thr458Ile)
c.1142C>T (p.Thr381Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455468G>CCA385625953GRIP1c.1364C>G (p.Thr455Ser)
c.1295C>G (p.Thr432Ser)
c.1139C>G (p.Thr380Ser)
c.401C>G
c.874+7456C>G (n.874+7456C>G)
c.739C>G
c.971C>G (p.Thr324Ser)
c.337+60151C>G (n.337+60151C>G)
c.597C>G
c.1298C>G (p.Thr433Ser)
c.1217C>G (p.Thr406Ser)
c.1520C>G (p.Thr507Ser)
c.1127C>G (p.Thr376Ser)
c.1214C>G (p.Thr405Ser)
c.1373C>G (p.Thr458Ser)
c.1142C>G (p.Thr381Ser)
12g.66455468G=CA2043057192GRIP1c.1364C= (p.Thr455=)
c.1295C= (p.Thr432=)
c.1139C= (p.Thr380=)
c.401C=
c.874+7456C= (n.874+7456C=)
c.739C=
c.971C= (p.Thr324=)
c.337+60151C= (n.337+60151C=)
c.597C=
c.1298C= (p.Thr433=)
c.1217C= (p.Thr406=)
c.1520C= (p.Thr507=)
c.1127C= (p.Thr376=)
c.1214C= (p.Thr405=)
c.1373C= (p.Thr458=)
c.1142C= (p.Thr381=)
12g.66455468G>TCA385625962GRIP1c.1364C>A (p.Thr455Asn)
c.1295C>A (p.Thr432Asn)
c.1139C>A (p.Thr380Asn)
c.401C>A
c.874+7456C>A (n.874+7456C>A)
c.739C>A
c.971C>A (p.Thr324Asn)
c.337+60151C>A (n.337+60151C>A)
c.597C>A
c.1298C>A (p.Thr433Asn)
c.1217C>A (p.Thr406Asn)
c.1520C>A (p.Thr507Asn)
c.1127C>A (p.Thr376Asn)
c.1214C>A (p.Thr405Asn)
c.1373C>A (p.Thr458Asn)
c.1142C>A (p.Thr381Asn)
 gnomAD v4
12g.66455469T>ACA385625965GRIP1c.1363A>T (p.Thr455Ser)
c.1294A>T (p.Thr432Ser)
c.1138A>T (p.Thr380Ser)
c.400A>T
c.874+7455A>T (n.874+7455A>T)
c.738A>T
c.970A>T (p.Thr324Ser)
c.337+60150A>T (n.337+60150A>T)
c.596A>T
c.1297A>T (p.Thr433Ser)
c.1216A>T (p.Thr406Ser)
c.1519A>T (p.Thr507Ser)
c.1126A>T (p.Thr376Ser)
c.1213A>T (p.Thr405Ser)
c.1372A>T (p.Thr458Ser)
c.1141A>T (p.Thr381Ser)
 COSMIC COSMIC
12g.66455469T>CCA385625969GRIP1c.1363A>G (p.Thr455Ala)
c.1294A>G (p.Thr432Ala)
c.1138A>G (p.Thr380Ala)
c.400A>G
c.874+7455A>G (n.874+7455A>G)
c.738A>G
c.970A>G (p.Thr324Ala)
c.337+60150A>G (n.337+60150A>G)
c.596A>G
c.1297A>G (p.Thr433Ala)
c.1216A>G (p.Thr406Ala)
c.1519A>G (p.Thr507Ala)
c.1126A>G (p.Thr376Ala)
c.1213A>G (p.Thr405Ala)
c.1372A>G (p.Thr458Ala)
c.1141A>G (p.Thr381Ala)
12g.66455469T>GCA385625967GRIP1c.1363A>C (p.Thr455Pro)
c.1294A>C (p.Thr432Pro)
c.1138A>C (p.Thr380Pro)
c.400A>C
c.874+7455A>C (n.874+7455A>C)
c.738A>C
c.970A>C (p.Thr324Pro)
c.337+60150A>C (n.337+60150A>C)
c.596A>C
c.1297A>C (p.Thr433Pro)
c.1216A>C (p.Thr406Pro)
c.1519A>C (p.Thr507Pro)
c.1126A>C (p.Thr376Pro)
c.1213A>C (p.Thr405Pro)
c.1372A>C (p.Thr458Pro)
c.1141A>C (p.Thr381Pro)
 dbSNP
12g.66455469T=CA2043057193GRIP1c.1363A= (p.Thr455=)
c.1294A= (p.Thr432=)
c.1138A= (p.Thr380=)
c.400A=
c.874+7455A= (n.874+7455A=)
c.738A=
c.970A= (p.Thr324=)
c.337+60150A= (n.337+60150A=)
c.596A=
c.1297A= (p.Thr433=)
c.1216A= (p.Thr406=)
c.1519A= (p.Thr507=)
c.1126A= (p.Thr376=)
c.1213A= (p.Thr405=)
c.1372A= (p.Thr458=)
c.1141A= (p.Thr381=)
12g.66455470G>ACA6674417GRIP1c.1362C>T (p.Ser454=)
c.1293C>T (p.Ser431=)
c.1137C>T (p.Ser379=)
c.399C>T
c.874+7454C>T (n.874+7454C>T)
c.737C>T
c.969C>T (p.Ser323=)
c.337+60149C>T (n.337+60149C>T)
c.595C>T
c.1296C>T (p.Ser432=)
c.1215C>T (p.Ser405=)
c.1518C>T (p.Ser506=)
c.1125C>T (p.Ser375=)
c.1212C>T (p.Ser404=)
c.1371C>T (p.Ser457=)
c.1140C>T (p.Ser380=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.66455470G>CCA480573931GRIP1c.1362C>G (p.Ser454=)
c.1293C>G (p.Ser431=)
c.1137C>G (p.Ser379=)
c.399C>G
c.874+7454C>G (n.874+7454C>G)
c.737C>G
c.969C>G (p.Ser323=)
c.337+60149C>G (n.337+60149C>G)
c.595C>G
c.1296C>G (p.Ser432=)
c.1215C>G (p.Ser405=)
c.1518C>G (p.Ser506=)
c.1125C>G (p.Ser375=)
c.1212C>G (p.Ser404=)
c.1371C>G (p.Ser457=)
c.1140C>G (p.Ser380=)
12g.66455470G=CA2043057194GRIP1c.1362C= (p.Ser454=)
c.1293C= (p.Ser431=)
c.1137C= (p.Ser379=)
c.399C=
c.874+7454C= (n.874+7454C=)
c.737C=
c.969C= (p.Ser323=)
c.337+60149C= (n.337+60149C=)
c.595C=
c.1296C= (p.Ser432=)
c.1215C= (p.Ser405=)
c.1518C= (p.Ser506=)
c.1125C= (p.Ser375=)
c.1212C= (p.Ser404=)
c.1371C= (p.Ser457=)
c.1140C= (p.Ser380=)
12g.66455470G>TCA480573930GRIP1c.1362C>A (p.Ser454=)
c.1293C>A (p.Ser431=)
c.1137C>A (p.Ser379=)
c.399C>A
c.874+7454C>A (n.874+7454C>A)
c.737C>A
c.969C>A (p.Ser323=)
c.337+60149C>A (n.337+60149C>A)
c.595C>A
c.1296C>A (p.Ser432=)
c.1215C>A (p.Ser405=)
c.1518C>A (p.Ser506=)
c.1125C>A (p.Ser375=)
c.1212C>A (p.Ser404=)
c.1371C>A (p.Ser457=)
c.1140C>A (p.Ser380=)
12g.66455471G>ACA385625975GRIP1c.1361C>T (p.Ser454Phe)
c.1292C>T (p.Ser431Phe)
c.1136C>T (p.Ser379Phe)
c.398C>T
c.874+7453C>T (n.874+7453C>T)
c.736C>T
c.968C>T (p.Ser323Phe)
c.337+60148C>T (n.337+60148C>T)
c.594C>T
c.1295C>T (p.Ser432Phe)
c.1214C>T (p.Ser405Phe)
c.1517C>T (p.Ser506Phe)
c.1124C>T (p.Ser375Phe)
c.1211C>T (p.Ser404Phe)
c.1370C>T (p.Ser457Phe)
c.1139C>T (p.Ser380Phe)
 dbSNP gnomAD v2 gnomAD v4
12g.66455471G>CCA385625976GRIP1c.1361C>G (p.Ser454Cys)
c.1292C>G (p.Ser431Cys)
c.1136C>G (p.Ser379Cys)
c.398C>G
c.874+7453C>G (n.874+7453C>G)
c.736C>G
c.968C>G (p.Ser323Cys)
c.337+60148C>G (n.337+60148C>G)
c.594C>G
c.1295C>G (p.Ser432Cys)
c.1214C>G (p.Ser405Cys)
c.1517C>G (p.Ser506Cys)
c.1124C>G (p.Ser375Cys)
c.1211C>G (p.Ser404Cys)
c.1370C>G (p.Ser457Cys)
c.1139C>G (p.Ser380Cys)
12g.66455471G=CA2043057195GRIP1c.1361C= (p.Ser454=)
c.1292C= (p.Ser431=)
c.1136C= (p.Ser379=)
c.398C=
c.874+7453C= (n.874+7453C=)
c.736C=
c.968C= (p.Ser323=)
c.337+60148C= (n.337+60148C=)
c.594C=
c.1295C= (p.Ser432=)
c.1214C= (p.Ser405=)
c.1517C= (p.Ser506=)
c.1124C= (p.Ser375=)
c.1211C= (p.Ser404=)
c.1370C= (p.Ser457=)
c.1139C= (p.Ser380=)
12g.66455471G>TCA385625978GRIP1c.1361C>A (p.Ser454Tyr)
c.1292C>A (p.Ser431Tyr)
c.1136C>A (p.Ser379Tyr)
c.398C>A
c.874+7453C>A (n.874+7453C>A)
c.736C>A
c.968C>A (p.Ser323Tyr)
c.337+60148C>A (n.337+60148C>A)
c.594C>A
c.1295C>A (p.Ser432Tyr)
c.1214C>A (p.Ser405Tyr)
c.1517C>A (p.Ser506Tyr)
c.1124C>A (p.Ser375Tyr)
c.1211C>A (p.Ser404Tyr)
c.1370C>A (p.Ser457Tyr)
c.1139C>A (p.Ser380Tyr)
12g.66455472A>CCA385625981GRIP1c.1360T>G (p.Ser454Ala)
c.1291T>G (p.Ser431Ala)
c.1135T>G (p.Ser379Ala)
c.397T>G
c.874+7452T>G (n.874+7452T>G)
c.735T>G
c.967T>G (p.Ser323Ala)
c.337+60147T>G (n.337+60147T>G)
c.593T>G
c.1294T>G (p.Ser432Ala)
c.1213T>G (p.Ser405Ala)
c.1516T>G (p.Ser506Ala)
c.1123T>G (p.Ser375Ala)
c.1210T>G (p.Ser404Ala)
c.1369T>G (p.Ser457Ala)
c.1138T>G (p.Ser380Ala)
12g.66455472A>GCA385625983GRIP1c.1360T>C (p.Ser454Pro)
c.1291T>C (p.Ser431Pro)
c.1135T>C (p.Ser379Pro)
c.397T>C
c.874+7452T>C (n.874+7452T>C)
c.735T>C
c.967T>C (p.Ser323Pro)
c.337+60147T>C (n.337+60147T>C)
c.593T>C
c.1294T>C (p.Ser432Pro)
c.1213T>C (p.Ser405Pro)
c.1516T>C (p.Ser506Pro)
c.1123T>C (p.Ser375Pro)
c.1210T>C (p.Ser404Pro)
c.1369T>C (p.Ser457Pro)
c.1138T>C (p.Ser380Pro)
12g.66455472A>TCA385625986GRIP1c.1360T>A (p.Ser454Thr)
c.1291T>A (p.Ser431Thr)
c.1135T>A (p.Ser379Thr)
c.397T>A
c.874+7452T>A (n.874+7452T>A)
c.735T>A
c.967T>A (p.Ser323Thr)
c.337+60147T>A (n.337+60147T>A)
c.593T>A
c.1294T>A (p.Ser432Thr)
c.1213T>A (p.Ser405Thr)
c.1516T>A (p.Ser506Thr)
c.1123T>A (p.Ser375Thr)
c.1210T>A (p.Ser404Thr)
c.1369T>A (p.Ser457Thr)
c.1138T>A (p.Ser380Thr)
12g.66455473G>ACA238353642GRIP1c.1359C>T (p.Tyr453=)
c.1290C>T (p.Tyr430=)
c.1134C>T (p.Tyr378=)
c.396C>T
c.874+7451C>T (n.874+7451C>T)
c.734C>T
c.966C>T (p.Tyr322=)
c.337+60146C>T (n.337+60146C>T)
c.592C>T
c.1293C>T (p.Tyr431=)
c.1212C>T (p.Tyr404=)
c.1515C>T (p.Tyr505=)
c.1122C>T (p.Tyr374=)
c.1209C>T (p.Tyr403=)
c.1368C>T (p.Tyr456=)
c.1137C>T (p.Tyr379=)
 dbSNP gnomAD v2 gnomAD v4
12g.66455473G>CCA385625991GRIP1c.1359C>G (p.Tyr453Ter)
c.1290C>G (p.Tyr430Ter)
c.1134C>G (p.Tyr378Ter)
c.396C>G
c.874+7451C>G (n.874+7451C>G)
c.734C>G
c.966C>G (p.Tyr322Ter)
c.337+60146C>G (n.337+60146C>G)
c.592C>G
c.1293C>G (p.Tyr431Ter)
c.1212C>G (p.Tyr404Ter)
c.1515C>G (p.Tyr505Ter)
c.1122C>G (p.Tyr374Ter)
c.1209C>G (p.Tyr403Ter)
c.1368C>G (p.Tyr456Ter)
c.1137C>G (p.Tyr379Ter)
12g.66455473G=CA2043057196GRIP1c.1359C= (p.Tyr453=)
c.1290C= (p.Tyr430=)
c.1134C= (p.Tyr378=)
c.396C=
c.874+7451C= (n.874+7451C=)
c.734C=
c.966C= (p.Tyr322=)
c.337+60146C= (n.337+60146C=)
c.592C=
c.1293C= (p.Tyr431=)
c.1212C= (p.Tyr404=)
c.1515C= (p.Tyr505=)
c.1122C= (p.Tyr374=)
c.1209C= (p.Tyr403=)
c.1368C= (p.Tyr456=)
c.1137C= (p.Tyr379=)
12g.66455473G>TCA385625992GRIP1c.1359C>A (p.Tyr453Ter)
c.1290C>A (p.Tyr430Ter)
c.1134C>A (p.Tyr378Ter)
c.396C>A
c.874+7451C>A (n.874+7451C>A)
c.734C>A
c.966C>A (p.Tyr322Ter)
c.337+60146C>A (n.337+60146C>A)
c.592C>A
c.1293C>A (p.Tyr431Ter)
c.1212C>A (p.Tyr404Ter)
c.1515C>A (p.Tyr505Ter)
c.1122C>A (p.Tyr374Ter)
c.1209C>A (p.Tyr403Ter)
c.1368C>A (p.Tyr456Ter)
c.1137C>A (p.Tyr379Ter)
12g.66455474T>ACA385625995GRIP1c.1358A>T (p.Tyr453Phe)
c.1289A>T (p.Tyr430Phe)
c.1133A>T (p.Tyr378Phe)
c.395A>T
c.874+7450A>T (n.874+7450A>T)
c.733A>T
c.965A>T (p.Tyr322Phe)
c.337+60145A>T (n.337+60145A>T)
c.591A>T
c.1292A>T (p.Tyr431Phe)
c.1211A>T (p.Tyr404Phe)
c.1514A>T (p.Tyr505Phe)
c.1121A>T (p.Tyr374Phe)
c.1208A>T (p.Tyr403Phe)
c.1367A>T (p.Tyr456Phe)
c.1136A>T (p.Tyr379Phe)
 gnomAD v4
12g.66455474T>CCA385625997GRIP1c.1358A>G (p.Tyr453Cys)
c.1289A>G (p.Tyr430Cys)
c.1133A>G (p.Tyr378Cys)
c.395A>G
c.874+7450A>G (n.874+7450A>G)
c.733A>G
c.965A>G (p.Tyr322Cys)
c.337+60145A>G (n.337+60145A>G)
c.591A>G
c.1292A>G (p.Tyr431Cys)
c.1211A>G (p.Tyr404Cys)
c.1514A>G (p.Tyr505Cys)
c.1121A>G (p.Tyr374Cys)
c.1208A>G (p.Tyr403Cys)
c.1367A>G (p.Tyr456Cys)
c.1136A>G (p.Tyr379Cys)
 dbSNP gnomAD v3 gnomAD v4
12g.66455474T>GCA385625999GRIP1c.1358A>C (p.Tyr453Ser)
c.1289A>C (p.Tyr430Ser)
c.1133A>C (p.Tyr378Ser)
c.395A>C
c.874+7450A>C (n.874+7450A>C)
c.733A>C
c.965A>C (p.Tyr322Ser)
c.337+60145A>C (n.337+60145A>C)
c.591A>C
c.1292A>C (p.Tyr431Ser)
c.1211A>C (p.Tyr404Ser)
c.1514A>C (p.Tyr505Ser)
c.1121A>C (p.Tyr374Ser)
c.1208A>C (p.Tyr403Ser)
c.1367A>C (p.Tyr456Ser)
c.1136A>C (p.Tyr379Ser)
12g.66455474T=CA2043057197GRIP1c.1358A= (p.Tyr453=)
c.1289A= (p.Tyr430=)
c.1133A= (p.Tyr378=)
c.395A=
c.874+7450A= (n.874+7450A=)
c.733A=
c.965A= (p.Tyr322=)
c.337+60145A= (n.337+60145A=)
c.591A=
c.1292A= (p.Tyr431=)
c.1211A= (p.Tyr404=)
c.1514A= (p.Tyr505=)
c.1121A= (p.Tyr374=)
c.1208A= (p.Tyr403=)
c.1367A= (p.Tyr456=)
c.1136A= (p.Tyr379=)
12g.66455475A=CA2043057198GRIP1c.1357T= (p.Tyr453=)
c.1288T= (p.Tyr430=)
c.1132T= (p.Tyr378=)
c.394T=
c.874+7449T= (n.874+7449T=)
c.732T=
c.964T= (p.Tyr322=)
c.337+60144T= (n.337+60144T=)
c.590T=
c.1291T= (p.Tyr431=)
c.1210T= (p.Tyr404=)
c.1513T= (p.Tyr505=)
c.1120T= (p.Tyr374=)
c.1207T= (p.Tyr403=)
c.1366T= (p.Tyr456=)
c.1135T= (p.Tyr379=)
12g.66455475A>CCA385626003GRIP1c.1357T>G (p.Tyr453Asp)
c.1288T>G (p.Tyr430Asp)
c.1132T>G (p.Tyr378Asp)
c.394T>G
c.874+7449T>G (n.874+7449T>G)
c.732T>G
c.964T>G (p.Tyr322Asp)
c.337+60144T>G (n.337+60144T>G)
c.590T>G
c.1291T>G (p.Tyr431Asp)
c.1210T>G (p.Tyr404Asp)
c.1513T>G (p.Tyr505Asp)
c.1120T>G (p.Tyr374Asp)
c.1207T>G (p.Tyr403Asp)
c.1366T>G (p.Tyr456Asp)
c.1135T>G (p.Tyr379Asp)
12g.66455475A>GCA385626004GRIP1c.1357T>C (p.Tyr453His)
c.1288T>C (p.Tyr430His)
c.1132T>C (p.Tyr378His)
c.394T>C
c.874+7449T>C (n.874+7449T>C)
c.732T>C
c.964T>C (p.Tyr322His)
c.337+60144T>C (n.337+60144T>C)
c.590T>C
c.1291T>C (p.Tyr431His)
c.1210T>C (p.Tyr404His)
c.1513T>C (p.Tyr505His)
c.1120T>C (p.Tyr374His)
c.1207T>C (p.Tyr403His)
c.1366T>C (p.Tyr456His)
c.1135T>C (p.Tyr379His)
12g.66455475A>TCA385626002GRIP1c.1357T>A (p.Tyr453Asn)
c.1288T>A (p.Tyr430Asn)
c.1132T>A (p.Tyr378Asn)
c.394T>A
c.874+7449T>A (n.874+7449T>A)
c.732T>A
c.964T>A (p.Tyr322Asn)
c.337+60144T>A (n.337+60144T>A)
c.590T>A
c.1291T>A (p.Tyr431Asn)
c.1210T>A (p.Tyr404Asn)
c.1513T>A (p.Tyr505Asn)
c.1120T>A (p.Tyr374Asn)
c.1207T>A (p.Tyr403Asn)
c.1366T>A (p.Tyr456Asn)
c.1135T>A (p.Tyr379Asn)
 dbSNP
12g.66455476G>ACA480573932GRIP1c.1356C>T (p.Leu452=)
c.1287C>T (p.Leu429=)
c.1131C>T (p.Leu377=)
c.393C>T
c.874+7448C>T (n.874+7448C>T)
c.731C>T
c.963C>T (p.Leu321=)
c.337+60143C>T (n.337+60143C>T)
c.589C>T
c.1290C>T (p.Leu430=)
c.1209C>T (p.Leu403=)
c.1512C>T (p.Leu504=)
c.1119C>T (p.Leu373=)
c.1206C>T (p.Leu402=)
c.1365C>T (p.Leu455=)
c.1134C>T (p.Leu378=)
 dbSNP gnomAD v2 gnomAD v4
12g.66455476G>CCA480573933GRIP1c.1356C>G (p.Leu452=)
c.1287C>G (p.Leu429=)
c.1131C>G (p.Leu377=)
c.393C>G
c.874+7448C>G (n.874+7448C>G)
c.731C>G
c.963C>G (p.Leu321=)
c.337+60143C>G (n.337+60143C>G)
c.589C>G
c.1290C>G (p.Leu430=)
c.1209C>G (p.Leu403=)
c.1512C>G (p.Leu504=)
c.1119C>G (p.Leu373=)
c.1206C>G (p.Leu402=)
c.1365C>G (p.Leu455=)
c.1134C>G (p.Leu378=)
 gnomAD v4
12g.66455476G=CA2043057199GRIP1c.1356C= (p.Leu452=)
c.1287C= (p.Leu429=)
c.1131C= (p.Leu377=)
c.393C=
c.874+7448C= (n.874+7448C=)
c.731C=
c.963C= (p.Leu321=)
c.337+60143C= (n.337+60143C=)
c.589C=
c.1290C= (p.Leu430=)
c.1209C= (p.Leu403=)
c.1512C= (p.Leu504=)
c.1119C= (p.Leu373=)
c.1206C= (p.Leu402=)
c.1365C= (p.Leu455=)
c.1134C= (p.Leu378=)
12g.66455476G>TCA6674418GRIP1c.1356C>A (p.Leu452=)
c.1287C>A (p.Leu429=)
c.1131C>A (p.Leu377=)
c.393C>A
c.874+7448C>A (n.874+7448C>A)
c.731C>A
c.963C>A (p.Leu321=)
c.337+60143C>A (n.337+60143C>A)
c.589C>A
c.1290C>A (p.Leu430=)
c.1209C>A (p.Leu403=)
c.1512C>A (p.Leu504=)
c.1119C>A (p.Leu373=)
c.1206C>A (p.Leu402=)
c.1365C>A (p.Leu455=)
c.1134C>A (p.Leu378=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.66455477A=CA2043057200GRIP1c.1355T= (p.Leu452=)
c.1286T= (p.Leu429=)
c.1130T= (p.Leu377=)
c.392T=
c.874+7447T= (n.874+7447T=)
c.730T=
c.962T= (p.Leu321=)
c.337+60142T= (n.337+60142T=)
c.588T=
c.1289T= (p.Leu430=)
c.1208T= (p.Leu403=)
c.1511T= (p.Leu504=)
c.1118T= (p.Leu373=)
c.1205T= (p.Leu402=)
c.1364T= (p.Leu455=)
c.1133T= (p.Leu378=)
12g.66455477A>CCA6674419GRIP1c.1355T>G (p.Leu452Arg)
c.1286T>G (p.Leu429Arg)
c.1130T>G (p.Leu377Arg)
c.392T>G
c.874+7447T>G (n.874+7447T>G)
c.730T>G
c.962T>G (p.Leu321Arg)
c.337+60142T>G (n.337+60142T>G)
c.588T>G
c.1289T>G (p.Leu430Arg)
c.1208T>G (p.Leu403Arg)
c.1511T>G (p.Leu504Arg)
c.1118T>G (p.Leu373Arg)
c.1205T>G (p.Leu402Arg)
c.1364T>G (p.Leu455Arg)
c.1133T>G (p.Leu378Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.66455477A>GCA385626008GRIP1c.1355T>C (p.Leu452Pro)
c.1286T>C (p.Leu429Pro)
c.1130T>C (p.Leu377Pro)
c.392T>C
c.874+7447T>C (n.874+7447T>C)
c.730T>C
c.962T>C (p.Leu321Pro)
c.337+60142T>C (n.337+60142T>C)
c.588T>C
c.1289T>C (p.Leu430Pro)
c.1208T>C (p.Leu403Pro)
c.1511T>C (p.Leu504Pro)
c.1118T>C (p.Leu373Pro)
c.1205T>C (p.Leu402Pro)
c.1364T>C (p.Leu455Pro)
c.1133T>C (p.Leu378Pro)
12g.66455477A>TCA385626013GRIP1c.1355T>A (p.Leu452His)
c.1286T>A (p.Leu429His)
c.1130T>A (p.Leu377His)
c.392T>A
c.874+7447T>A (n.874+7447T>A)
c.730T>A
c.962T>A (p.Leu321His)
c.337+60142T>A (n.337+60142T>A)
c.588T>A
c.1289T>A (p.Leu430His)
c.1208T>A (p.Leu403His)
c.1511T>A (p.Leu504His)
c.1118T>A (p.Leu373His)
c.1205T>A (p.Leu402His)
c.1364T>A (p.Leu455His)
c.1133T>A (p.Leu378His)
12g.66455478G>ACA385626015GRIP1c.1354C>T (p.Leu452Phe)
c.1285C>T (p.Leu429Phe)
c.1129C>T (p.Leu377Phe)
c.391C>T
c.874+7446C>T (n.874+7446C>T)
c.729C>T
c.961C>T (p.Leu321Phe)
c.337+60141C>T (n.337+60141C>T)
c.587C>T
c.1288C>T (p.Leu430Phe)
c.1207C>T (p.Leu403Phe)
c.1510C>T (p.Leu504Phe)
c.1117C>T (p.Leu373Phe)
c.1204C>T (p.Leu402Phe)
c.1363C>T (p.Leu455Phe)
c.1132C>T (p.Leu378Phe)
12g.66455478G>CCA385626017GRIP1c.1354C>G (p.Leu452Val)
c.1285C>G (p.Leu429Val)
c.1129C>G (p.Leu377Val)
c.391C>G
c.874+7446C>G (n.874+7446C>G)
c.729C>G
c.961C>G (p.Leu321Val)
c.337+60141C>G (n.337+60141C>G)
c.587C>G
c.1288C>G (p.Leu430Val)
c.1207C>G (p.Leu403Val)
c.1510C>G (p.Leu504Val)
c.1117C>G (p.Leu373Val)
c.1204C>G (p.Leu402Val)
c.1363C>G (p.Leu455Val)
c.1132C>G (p.Leu378Val)
12g.66455478G>TCA385626016GRIP1c.1354C>A (p.Leu452Ile)
c.1285C>A (p.Leu429Ile)
c.1129C>A (p.Leu377Ile)
c.391C>A
c.874+7446C>A (n.874+7446C>A)
c.729C>A
c.961C>A (p.Leu321Ile)
c.337+60141C>A (n.337+60141C>A)
c.587C>A
c.1288C>A (p.Leu430Ile)
c.1207C>A (p.Leu403Ile)
c.1510C>A (p.Leu504Ile)
c.1117C>A (p.Leu373Ile)
c.1204C>A (p.Leu402Ile)
c.1363C>A (p.Leu455Ile)
c.1132C>A (p.Leu378Ile)
12g.66455479G>ACA238353651GRIP1c.1353C>T (p.Ser451=)
c.1284C>T (p.Ser428=)
c.1128C>T (p.Ser376=)
c.390C>T
c.874+7445C>T (n.874+7445C>T)
c.728C>T
c.960C>T (p.Ser320=)
c.337+60140C>T (n.337+60140C>T)
c.586C>T
c.1287C>T (p.Ser429=)
c.1206C>T (p.Ser402=)
c.1509C>T (p.Ser503=)
c.1116C>T (p.Ser372=)
c.1203C>T (p.Ser401=)
c.1362C>T (p.Ser454=)
c.1131C>T (p.Ser377=)
 dbSNP gnomAD v2 gnomAD v4
12g.66455479G>CCA385626018GRIP1c.1353C>G (p.Ser451Arg)
c.1284C>G (p.Ser428Arg)
c.1128C>G (p.Ser376Arg)
c.390C>G
c.874+7445C>G (n.874+7445C>G)
c.728C>G
c.960C>G (p.Ser320Arg)
c.337+60140C>G (n.337+60140C>G)
c.586C>G
c.1287C>G (p.Ser429Arg)
c.1206C>G (p.Ser402Arg)
c.1509C>G (p.Ser503Arg)
c.1116C>G (p.Ser372Arg)
c.1203C>G (p.Ser401Arg)
c.1362C>G (p.Ser454Arg)
c.1131C>G (p.Ser377Arg)
12g.66455479G=CA2043057201GRIP1c.1353C= (p.Ser451=)
c.1284C= (p.Ser428=)
c.1128C= (p.Ser376=)
c.390C=
c.874+7445C= (n.874+7445C=)
c.728C=
c.960C= (p.Ser320=)
c.337+60140C= (n.337+60140C=)
c.586C=
c.1287C= (p.Ser429=)
c.1206C= (p.Ser402=)
c.1509C= (p.Ser503=)
c.1116C= (p.Ser372=)
c.1203C= (p.Ser401=)
c.1362C= (p.Ser454=)
c.1131C= (p.Ser377=)
12g.66455479G>TCA238353655GRIP1c.1353C>A (p.Ser451Arg)
c.1284C>A (p.Ser428Arg)
c.1128C>A (p.Ser376Arg)
c.390C>A
c.874+7445C>A (n.874+7445C>A)
c.728C>A
c.960C>A (p.Ser320Arg)
c.337+60140C>A (n.337+60140C>A)
c.586C>A
c.1287C>A (p.Ser429Arg)
c.1206C>A (p.Ser402Arg)
c.1509C>A (p.Ser503Arg)
c.1116C>A (p.Ser372Arg)
c.1203C>A (p.Ser401Arg)
c.1362C>A (p.Ser454Arg)
c.1131C>A (p.Ser377Arg)
 dbSNP
12g.66455480C>ACA385626019GRIP1c.1352G>T (p.Ser451Ile)
c.1283G>T (p.Ser428Ile)
c.1127G>T (p.Ser376Ile)
c.389G>T
c.874+7444G>T (n.874+7444G>T)
c.727G>T
c.959G>T (p.Ser320Ile)
c.337+60139G>T (n.337+60139G>T)
c.585G>T
c.1286G>T (p.Ser429Ile)
c.1205G>T (p.Ser402Ile)
c.1508G>T (p.Ser503Ile)
c.1115G>T (p.Ser372Ile)
c.1202G>T (p.Ser401Ile)
c.1361G>T (p.Ser454Ile)
c.1130G>T (p.Ser377Ile)
 gnomAD v4
12g.66455480C=CA2043057202GRIP1c.1352G= (p.Ser451=)
c.1283G= (p.Ser428=)
c.1127G= (p.Ser376=)
c.389G=
c.874+7444G= (n.874+7444G=)
c.727G=
c.959G= (p.Ser320=)
c.337+60139G= (n.337+60139G=)
c.585G=
c.1286G= (p.Ser429=)
c.1205G= (p.Ser402=)
c.1508G= (p.Ser503=)
c.1115G= (p.Ser372=)
c.1202G= (p.Ser401=)
c.1361G= (p.Ser454=)
c.1130G= (p.Ser377=)
12g.66455480C>GCA385626021GRIP1c.1352G>C (p.Ser451Thr)
c.1283G>C (p.Ser428Thr)
c.1127G>C (p.Ser376Thr)
c.389G>C
c.874+7444G>C (n.874+7444G>C)
c.727G>C
c.959G>C (p.Ser320Thr)
c.337+60139G>C (n.337+60139G>C)
c.585G>C
c.1286G>C (p.Ser429Thr)
c.1205G>C (p.Ser402Thr)
c.1508G>C (p.Ser503Thr)
c.1115G>C (p.Ser372Thr)
c.1202G>C (p.Ser401Thr)
c.1361G>C (p.Ser454Thr)
c.1130G>C (p.Ser377Thr)
12g.66455480C>TCA385626027GRIP1c.1352G>A (p.Ser451Asn)
c.1283G>A (p.Ser428Asn)
c.1127G>A (p.Ser376Asn)
c.389G>A
c.874+7444G>A (n.874+7444G>A)
c.727G>A
c.959G>A (p.Ser320Asn)
c.337+60139G>A (n.337+60139G>A)
c.585G>A
c.1286G>A (p.Ser429Asn)
c.1205G>A (p.Ser402Asn)
c.1508G>A (p.Ser503Asn)
c.1115G>A (p.Ser372Asn)
c.1202G>A (p.Ser401Asn)
c.1361G>A (p.Ser454Asn)
c.1130G>A (p.Ser377Asn)
 dbSNP gnomAD v3 gnomAD v4
12g.66455481T>ACA385626029GRIP1c.1351A>T (p.Ser451Cys)
c.1282A>T (p.Ser428Cys)
c.1126A>T (p.Ser376Cys)
c.388A>T
c.874+7443A>T (n.874+7443A>T)
c.726A>T
c.958A>T (p.Ser320Cys)
c.337+60138A>T (n.337+60138A>T)
c.584A>T
c.1285A>T (p.Ser429Cys)
c.1204A>T (p.Ser402Cys)
c.1507A>T (p.Ser503Cys)
c.1114A>T (p.Ser372Cys)
c.1201A>T (p.Ser401Cys)
c.1360A>T (p.Ser454Cys)
c.1129A>T (p.Ser377Cys)
12g.66455481T>CCA385626031GRIP1c.1351A>G (p.Ser451Gly)
c.1282A>G (p.Ser428Gly)
c.1126A>G (p.Ser376Gly)
c.388A>G
c.874+7443A>G (n.874+7443A>G)
c.726A>G
c.958A>G (p.Ser320Gly)
c.337+60138A>G (n.337+60138A>G)
c.584A>G
c.1285A>G (p.Ser429Gly)
c.1204A>G (p.Ser402Gly)
c.1507A>G (p.Ser503Gly)
c.1114A>G (p.Ser372Gly)
c.1201A>G (p.Ser401Gly)
c.1360A>G (p.Ser454Gly)
c.1129A>G (p.Ser377Gly)
 gnomAD v4
12g.66455481T>GCA385626033GRIP1c.1351A>C (p.Ser451Arg)
c.1282A>C (p.Ser428Arg)
c.1126A>C (p.Ser376Arg)
c.388A>C
c.874+7443A>C (n.874+7443A>C)
c.726A>C
c.958A>C (p.Ser320Arg)
c.337+60138A>C (n.337+60138A>C)
c.584A>C
c.1285A>C (p.Ser429Arg)
c.1204A>C (p.Ser402Arg)
c.1507A>C (p.Ser503Arg)
c.1114A>C (p.Ser372Arg)
c.1201A>C (p.Ser401Arg)
c.1360A>C (p.Ser454Arg)
c.1129A>C (p.Ser377Arg)
12g.66455482T>ACA480573940GRIP1c.1350A>T (p.Arg450=)
c.1281A>T (p.Arg427=)
c.1125A>T (p.Arg375=)
c.387A>T
c.874+7442A>T (n.874+7442A>T)
c.725A>T
c.957A>T (p.Arg319=)
c.337+60137A>T (n.337+60137A>T)
c.583A>T
c.1284A>T (p.Arg428=)
c.1203A>T (p.Arg401=)
c.1506A>T (p.Arg502=)
c.1113A>T (p.Arg371=)
c.1200A>T (p.Arg400=)
c.1359A>T (p.Arg453=)
c.1128A>T (p.Arg376=)
12g.66455482T>CCA480573943GRIP1c.1350A>G (p.Arg450=)
c.1281A>G (p.Arg427=)
c.1125A>G (p.Arg375=)
c.387A>G
c.874+7442A>G (n.874+7442A>G)
c.725A>G
c.957A>G (p.Arg319=)
c.337+60137A>G (n.337+60137A>G)
c.583A>G
c.1284A>G (p.Arg428=)
c.1203A>G (p.Arg401=)
c.1506A>G (p.Arg502=)
c.1113A>G (p.Arg371=)
c.1200A>G (p.Arg400=)
c.1359A>G (p.Arg453=)
c.1128A>G (p.Arg376=)
12g.66455482T>GCA480573945GRIP1c.1350A>C (p.Arg450=)
c.1281A>C (p.Arg427=)
c.1125A>C (p.Arg375=)
c.387A>C
c.874+7442A>C (n.874+7442A>C)
c.725A>C
c.957A>C (p.Arg319=)
c.337+60137A>C (n.337+60137A>C)
c.583A>C
c.1284A>C (p.Arg428=)
c.1203A>C (p.Arg401=)
c.1506A>C (p.Arg502=)
c.1113A>C (p.Arg371=)
c.1200A>C (p.Arg400=)
c.1359A>C (p.Arg453=)
c.1128A>C (p.Arg376=)
12g.66455483C>ACA385626036GRIP1c.1349G>T (p.Arg450Leu)
c.1280G>T (p.Arg427Leu)
c.1124G>T (p.Arg375Leu)
c.386G>T
c.874+7441G>T (n.874+7441G>T)
c.724G>T
c.956G>T (p.Arg319Leu)
c.337+60136G>T (n.337+60136G>T)
c.582G>T
c.1283G>T (p.Arg428Leu)
c.1202G>T (p.Arg401Leu)
c.1505G>T (p.Arg502Leu)
c.1112G>T (p.Arg371Leu)
c.1199G>T (p.Arg400Leu)
c.1358G>T (p.Arg453Leu)
c.1127G>T (p.Arg376Leu)
12g.66455483C=CA2043057203GRIP1c.1349G= (p.Arg450=)
c.1280G= (p.Arg427=)
c.1124G= (p.Arg375=)
c.386G=
c.874+7441G= (n.874+7441G=)
c.724G=
c.956G= (p.Arg319=)
c.337+60136G= (n.337+60136G=)
c.582G=
c.1283G= (p.Arg428=)
c.1202G= (p.Arg401=)
c.1505G= (p.Arg502=)
c.1112G= (p.Arg371=)
c.1199G= (p.Arg400=)
c.1358G= (p.Arg453=)
c.1127G= (p.Arg376=)
12g.66455483C>GCA385626045GRIP1c.1349G>C (p.Arg450Pro)
c.1280G>C (p.Arg427Pro)
c.1124G>C (p.Arg375Pro)
c.386G>C
c.874+7441G>C (n.874+7441G>C)
c.724G>C
c.956G>C (p.Arg319Pro)
c.337+60136G>C (n.337+60136G>C)
c.582G>C
c.1283G>C (p.Arg428Pro)
c.1202G>C (p.Arg401Pro)
c.1505G>C (p.Arg502Pro)
c.1112G>C (p.Arg371Pro)
c.1199G>C (p.Arg400Pro)
c.1358G>C (p.Arg453Pro)
c.1127G>C (p.Arg376Pro)
12g.66455483C>TCA6674420GRIP1c.1349G>A (p.Arg450Gln)
c.1280G>A (p.Arg427Gln)
c.1124G>A (p.Arg375Gln)
c.386G>A
c.874+7441G>A (n.874+7441G>A)
c.724G>A
c.956G>A (p.Arg319Gln)
c.337+60136G>A (n.337+60136G>A)
c.582G>A
c.1283G>A (p.Arg428Gln)
c.1202G>A (p.Arg401Gln)
c.1505G>A (p.Arg502Gln)
c.1112G>A (p.Arg371Gln)
c.1199G>A (p.Arg400Gln)
c.1358G>A (p.Arg453Gln)
c.1127G>A (p.Arg376Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455484G>ACA385626050GRIP1c.1348C>T (p.Arg450Ter)
c.1279C>T (p.Arg427Ter)
c.1123C>T (p.Arg375Ter)
c.385C>T
c.874+7440C>T (n.874+7440C>T)
c.723C>T
c.955C>T (p.Arg319Ter)
c.337+60135C>T (n.337+60135C>T)
c.581C>T
c.1282C>T (p.Arg428Ter)
c.1201C>T (p.Arg401Ter)
c.1504C>T (p.Arg502Ter)
c.1111C>T (p.Arg371Ter)
c.1198C>T (p.Arg400Ter)
c.1357C>T (p.Arg453Ter)
c.1126C>T (p.Arg376Ter)
12g.66455484G>CCA385626052GRIP1c.1348C>G (p.Arg450Gly)
c.1279C>G (p.Arg427Gly)
c.1123C>G (p.Arg375Gly)
c.385C>G
c.874+7440C>G (n.874+7440C>G)
c.723C>G
c.955C>G (p.Arg319Gly)
c.337+60135C>G (n.337+60135C>G)
c.581C>G
c.1282C>G (p.Arg428Gly)
c.1201C>G (p.Arg401Gly)
c.1504C>G (p.Arg502Gly)
c.1111C>G (p.Arg371Gly)
c.1198C>G (p.Arg400Gly)
c.1357C>G (p.Arg453Gly)
c.1126C>G (p.Arg376Gly)
 gnomAD v4
12g.66455484G>TCA480573947GRIP1c.1348C>A (p.Arg450=)
c.1279C>A (p.Arg427=)
c.1123C>A (p.Arg375=)
c.385C>A
c.874+7440C>A (n.874+7440C>A)
c.723C>A
c.955C>A (p.Arg319=)
c.337+60135C>A (n.337+60135C>A)
c.581C>A
c.1282C>A (p.Arg428=)
c.1201C>A (p.Arg401=)
c.1504C>A (p.Arg502=)
c.1111C>A (p.Arg371=)
c.1198C>A (p.Arg400=)
c.1357C>A (p.Arg453=)
c.1126C>A (p.Arg376=)
12g.66455485A>CCA480573952GRIP1c.1347T>G (p.Pro449=)
c.1278T>G (p.Pro426=)
c.1122T>G (p.Pro374=)
c.384T>G
c.874+7439T>G (n.874+7439T>G)
c.722T>G
c.954T>G (p.Pro318=)
c.337+60134T>G (n.337+60134T>G)
c.580T>G
c.1281T>G (p.Pro427=)
c.1200T>G (p.Pro400=)
c.1503T>G (p.Pro501=)
c.1110T>G (p.Pro370=)
c.1197T>G (p.Pro399=)
c.1356T>G (p.Pro452=)
c.1125T>G (p.Pro375=)
12g.66455485A>GCA480573950GRIP1c.1347T>C (p.Pro449=)
c.1278T>C (p.Pro426=)
c.1122T>C (p.Pro374=)
c.384T>C
c.874+7439T>C (n.874+7439T>C)
c.722T>C
c.954T>C (p.Pro318=)
c.337+60134T>C (n.337+60134T>C)
c.580T>C
c.1281T>C (p.Pro427=)
c.1200T>C (p.Pro400=)
c.1503T>C (p.Pro501=)
c.1110T>C (p.Pro370=)
c.1197T>C (p.Pro399=)
c.1356T>C (p.Pro452=)
c.1125T>C (p.Pro375=)
12g.66455485A>TCA480573951GRIP1c.1347T>A (p.Pro449=)
c.1278T>A (p.Pro426=)
c.1122T>A (p.Pro374=)
c.384T>A
c.874+7439T>A (n.874+7439T>A)
c.722T>A
c.954T>A (p.Pro318=)
c.337+60134T>A (n.337+60134T>A)
c.580T>A
c.1281T>A (p.Pro427=)
c.1200T>A (p.Pro400=)
c.1503T>A (p.Pro501=)
c.1110T>A (p.Pro370=)
c.1197T>A (p.Pro399=)
c.1356T>A (p.Pro452=)
c.1125T>A (p.Pro375=)
12g.66455486G>ACA385626053GRIP1c.1346C>T (p.Pro449Leu)
c.1277C>T (p.Pro426Leu)
c.1121C>T (p.Pro374Leu)
c.383C>T
c.874+7438C>T (n.874+7438C>T)
c.721C>T
c.953C>T (p.Pro318Leu)
c.337+60133C>T (n.337+60133C>T)
c.579C>T
c.1280C>T (p.Pro427Leu)
c.1199C>T (p.Pro400Leu)
c.1502C>T (p.Pro501Leu)
c.1109C>T (p.Pro370Leu)
c.1196C>T (p.Pro399Leu)
c.1355C>T (p.Pro452Leu)
c.1124C>T (p.Pro375Leu)
 gnomAD v4
12g.66455486G>CCA385626056GRIP1c.1346C>G (p.Pro449Arg)
c.1277C>G (p.Pro426Arg)
c.1121C>G (p.Pro374Arg)
c.383C>G
c.874+7438C>G (n.874+7438C>G)
c.721C>G
c.953C>G (p.Pro318Arg)
c.337+60133C>G (n.337+60133C>G)
c.579C>G
c.1280C>G (p.Pro427Arg)
c.1199C>G (p.Pro400Arg)
c.1502C>G (p.Pro501Arg)
c.1109C>G (p.Pro370Arg)
c.1196C>G (p.Pro399Arg)
c.1355C>G (p.Pro452Arg)
c.1124C>G (p.Pro375Arg)
12g.66455486G>TCA385626059GRIP1c.1346C>A (p.Pro449His)
c.1277C>A (p.Pro426His)
c.1121C>A (p.Pro374His)
c.383C>A
c.874+7438C>A (n.874+7438C>A)
c.721C>A
c.953C>A (p.Pro318His)
c.337+60133C>A (n.337+60133C>A)
c.579C>A
c.1280C>A (p.Pro427His)
c.1199C>A (p.Pro400His)
c.1502C>A (p.Pro501His)
c.1109C>A (p.Pro370His)
c.1196C>A (p.Pro399His)
c.1355C>A (p.Pro452His)
c.1124C>A (p.Pro375His)
12g.66455487delCA2619716073GRIP1c.1346del (p.Pro449LeufsTer13)
c.1277del (p.Pro426LeufsTer13)
c.1121del (p.Pro374LeufsTer13)
c.383del
c.874+7438del (n.874+7438del)
c.721del
c.953del (p.Pro318LeufsTer13)
c.337+60133del (n.337+60133del)
c.579del
c.1280del (p.Pro427LeufsTer13)
c.1199del (p.Pro400LeufsTer13)
c.1502del (p.Pro501LeufsTer13)
c.1109del (p.Pro370LeufsTer13)
c.1196del (p.Pro399LeufsTer13)
c.1355del (p.Pro452LeufsTer13)
c.1124del (p.Pro375LeufsTer13)
 gnomAD v4
12g.66455487G>ACA6674421GRIP1c.1345C>T (p.Pro449Ser)
c.1276C>T (p.Pro426Ser)
c.1120C>T (p.Pro374Ser)
c.382C>T
c.874+7437C>T (n.874+7437C>T)
c.720C>T
c.952C>T (p.Pro318Ser)
c.337+60132C>T (n.337+60132C>T)
c.578C>T
c.1279C>T (p.Pro427Ser)
c.1198C>T (p.Pro400Ser)
c.1501C>T (p.Pro501Ser)
c.1108C>T (p.Pro370Ser)
c.1195C>T (p.Pro399Ser)
c.1354C>T (p.Pro452Ser)
c.1123C>T (p.Pro375Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.66455487G>CCA385626064GRIP1c.1345C>G (p.Pro449Ala)
c.1276C>G (p.Pro426Ala)
c.1120C>G (p.Pro374Ala)
c.382C>G
c.874+7437C>G (n.874+7437C>G)
c.720C>G
c.952C>G (p.Pro318Ala)
c.337+60132C>G (n.337+60132C>G)
c.578C>G
c.1279C>G (p.Pro427Ala)
c.1198C>G (p.Pro400Ala)
c.1501C>G (p.Pro501Ala)
c.1108C>G (p.Pro370Ala)
c.1195C>G (p.Pro399Ala)
c.1354C>G (p.Pro452Ala)
c.1123C>G (p.Pro375Ala)
12g.66455487G=CA2043057204GRIP1c.1345C= (p.Pro449=)
c.1276C= (p.Pro426=)
c.1120C= (p.Pro374=)
c.382C=
c.874+7437C= (n.874+7437C=)
c.720C=
c.952C= (p.Pro318=)
c.337+60132C= (n.337+60132C=)
c.578C=
c.1279C= (p.Pro427=)
c.1198C= (p.Pro400=)
c.1501C= (p.Pro501=)
c.1108C= (p.Pro370=)
c.1195C= (p.Pro399=)
c.1354C= (p.Pro452=)
c.1123C= (p.Pro375=)
12g.66455487G>TCA385626065GRIP1c.1345C>A (p.Pro449Thr)
c.1276C>A (p.Pro426Thr)
c.1120C>A (p.Pro374Thr)
c.382C>A
c.874+7437C>A (n.874+7437C>A)
c.720C>A
c.952C>A (p.Pro318Thr)
c.337+60132C>A (n.337+60132C>A)
c.578C>A
c.1279C>A (p.Pro427Thr)
c.1198C>A (p.Pro400Thr)
c.1501C>A (p.Pro501Thr)
c.1108C>A (p.Pro370Thr)
c.1195C>A (p.Pro399Thr)
c.1354C>A (p.Pro452Thr)
c.1123C>A (p.Pro375Thr)
 dbSNP
12g.66455488T>ACA480573954GRIP1c.1344A>T (p.Leu448=)
c.1275A>T (p.Leu425=)
c.1119A>T (p.Leu373=)
c.381A>T
c.874+7436A>T (n.874+7436A>T)
c.719A>T
c.951A>T (p.Leu317=)
c.337+60131A>T (n.337+60131A>T)
c.577A>T
c.1278A>T (p.Leu426=)
c.1197A>T (p.Leu399=)
c.1500A>T (p.Leu500=)
c.1107A>T (p.Leu369=)
c.1194A>T (p.Leu398=)
c.1353A>T (p.Leu451=)
c.1122A>T (p.Leu374=)
12g.66455488T>CCA480573955GRIP1c.1344A>G (p.Leu448=)
c.1275A>G (p.Leu425=)
c.1119A>G (p.Leu373=)
c.381A>G
c.874+7436A>G (n.874+7436A>G)
c.719A>G
c.951A>G (p.Leu317=)
c.337+60131A>G (n.337+60131A>G)
c.577A>G
c.1278A>G (p.Leu426=)
c.1197A>G (p.Leu399=)
c.1500A>G (p.Leu500=)
c.1107A>G (p.Leu369=)
c.1194A>G (p.Leu398=)
c.1353A>G (p.Leu451=)
c.1122A>G (p.Leu374=)
 gnomAD v4
12g.66455488T>GCA480573956GRIP1c.1344A>C (p.Leu448=)
c.1275A>C (p.Leu425=)
c.1119A>C (p.Leu373=)
c.381A>C
c.874+7436A>C (n.874+7436A>C)
c.719A>C
c.951A>C (p.Leu317=)
c.337+60131A>C (n.337+60131A>C)
c.577A>C
c.1278A>C (p.Leu426=)
c.1197A>C (p.Leu399=)
c.1500A>C (p.Leu500=)
c.1107A>C (p.Leu369=)
c.1194A>C (p.Leu398=)
c.1353A>C (p.Leu451=)
c.1122A>C (p.Leu374=)
 dbSNP
12g.66455488T=CA2043057205GRIP1c.1344A= (p.Leu448=)
c.1275A= (p.Leu425=)
c.1119A= (p.Leu373=)
c.381A=
c.874+7436A= (n.874+7436A=)
c.719A=
c.951A= (p.Leu317=)
c.337+60131A= (n.337+60131A=)
c.577A=
c.1278A= (p.Leu426=)
c.1197A= (p.Leu399=)
c.1500A= (p.Leu500=)
c.1107A= (p.Leu369=)
c.1194A= (p.Leu398=)
c.1353A= (p.Leu451=)
c.1122A= (p.Leu374=)
12g.66455489A=CA2043057206GRIP1c.1343T= (p.Leu448=)
c.1274T= (p.Leu425=)
c.1118T= (p.Leu373=)
c.380T=
c.874+7435T= (n.874+7435T=)
c.718T=
c.950T= (p.Leu317=)
c.337+60130T= (n.337+60130T=)
c.576T=
c.1277T= (p.Leu426=)
c.1196T= (p.Leu399=)
c.1499T= (p.Leu500=)
c.1106T= (p.Leu369=)
c.1193T= (p.Leu398=)
c.1352T= (p.Leu451=)
c.1121T= (p.Leu374=)
12g.66455489A>CCA385626066GRIP1c.1343T>G (p.Leu448Arg)
c.1274T>G (p.Leu425Arg)
c.1118T>G (p.Leu373Arg)
c.380T>G
c.874+7435T>G (n.874+7435T>G)
c.718T>G
c.950T>G (p.Leu317Arg)
c.337+60130T>G (n.337+60130T>G)
c.576T>G
c.1277T>G (p.Leu426Arg)
c.1196T>G (p.Leu399Arg)
c.1499T>G (p.Leu500Arg)
c.1106T>G (p.Leu369Arg)
c.1193T>G (p.Leu398Arg)
c.1352T>G (p.Leu451Arg)
c.1121T>G (p.Leu374Arg)
 gnomAD v4
12g.66455489A>GCA385626067GRIP1c.1343T>C (p.Leu448Pro)
c.1274T>C (p.Leu425Pro)
c.1118T>C (p.Leu373Pro)
c.380T>C
c.874+7435T>C (n.874+7435T>C)
c.718T>C
c.950T>C (p.Leu317Pro)
c.337+60130T>C (n.337+60130T>C)
c.576T>C
c.1277T>C (p.Leu426Pro)
c.1196T>C (p.Leu399Pro)
c.1499T>C (p.Leu500Pro)
c.1106T>C (p.Leu369Pro)
c.1193T>C (p.Leu398Pro)
c.1352T>C (p.Leu451Pro)
c.1121T>C (p.Leu374Pro)
 dbSNP gnomAD v3 gnomAD v4
12g.66455489A>TCA385626068GRIP1c.1343T>A (p.Leu448Gln)
c.1274T>A (p.Leu425Gln)
c.1118T>A (p.Leu373Gln)
c.380T>A
c.874+7435T>A (n.874+7435T>A)
c.718T>A
c.950T>A (p.Leu317Gln)
c.337+60130T>A (n.337+60130T>A)
c.576T>A
c.1277T>A (p.Leu426Gln)
c.1196T>A (p.Leu399Gln)
c.1499T>A (p.Leu500Gln)
c.1106T>A (p.Leu369Gln)
c.1193T>A (p.Leu398Gln)
c.1352T>A (p.Leu451Gln)
c.1121T>A (p.Leu374Gln)
12g.66455490G>ACA6674422GRIP1c.1342C>T (p.Leu448=)
c.1273C>T (p.Leu425=)
c.1117C>T (p.Leu373=)
c.379C>T
c.874+7434C>T (n.874+7434C>T)
c.717C>T
c.949C>T (p.Leu317=)
c.337+60129C>T (n.337+60129C>T)
c.575C>T
c.1276C>T (p.Leu426=)
c.1195C>T (p.Leu399=)
c.1498C>T (p.Leu500=)
c.1105C>T (p.Leu369=)
c.1192C>T (p.Leu398=)
c.1351C>T (p.Leu451=)
c.1120C>T (p.Leu374=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.66455490G>CCA385626074GRIP1c.1342C>G (p.Leu448Val)
c.1273C>G (p.Leu425Val)
c.1117C>G (p.Leu373Val)
c.379C>G
c.874+7434C>G (n.874+7434C>G)
c.717C>G
c.949C>G (p.Leu317Val)
c.337+60129C>G (n.337+60129C>G)
c.575C>G
c.1276C>G (p.Leu426Val)
c.1195C>G (p.Leu399Val)
c.1498C>G (p.Leu500Val)
c.1105C>G (p.Leu369Val)
c.1192C>G (p.Leu398Val)
c.1351C>G (p.Leu451Val)
c.1120C>G (p.Leu374Val)
12g.66455490G=CA2043057207GRIP1c.1342C= (p.Leu448=)
c.1273C= (p.Leu425=)
c.1117C= (p.Leu373=)
c.379C=
c.874+7434C= (n.874+7434C=)
c.717C=
c.949C= (p.Leu317=)
c.337+60129C= (n.337+60129C=)
c.575C=
c.1276C= (p.Leu426=)
c.1195C= (p.Leu399=)
c.1498C= (p.Leu500=)
c.1105C= (p.Leu369=)
c.1192C= (p.Leu398=)
c.1351C= (p.Leu451=)
c.1120C= (p.Leu374=)
12g.66455490G>TCA385626078GRIP1c.1342C>A (p.Leu448Ile)
c.1273C>A (p.Leu425Ile)
c.1117C>A (p.Leu373Ile)
c.379C>A
c.874+7434C>A (n.874+7434C>A)
c.717C>A
c.949C>A (p.Leu317Ile)
c.337+60129C>A (n.337+60129C>A)
c.575C>A
c.1276C>A (p.Leu426Ile)
c.1195C>A (p.Leu399Ile)
c.1498C>A (p.Leu500Ile)
c.1105C>A (p.Leu369Ile)
c.1192C>A (p.Leu398Ile)
c.1351C>A (p.Leu451Ile)
c.1120C>A (p.Leu374Ile)
12g.66455491A>CCA480573960GRIP1c.1341T>G (p.Thr447=)
c.1272T>G (p.Thr424=)
c.1116T>G (p.Thr372=)
c.378T>G
c.874+7433T>G (n.874+7433T>G)
c.716T>G
c.948T>G (p.Thr316=)
c.337+60128T>G (n.337+60128T>G)
c.574T>G
c.1275T>G (p.Thr425=)
c.1194T>G (p.Thr398=)
c.1497T>G (p.Thr499=)
c.1104T>G (p.Thr368=)
c.1191T>G (p.Thr397=)
c.1350T>G (p.Thr450=)
c.1119T>G (p.Thr373=)
12g.66455491A>GCA480573962GRIP1c.1341T>C (p.Thr447=)
c.1272T>C (p.Thr424=)
c.1116T>C (p.Thr372=)
c.378T>C
c.874+7433T>C (n.874+7433T>C)
c.716T>C
c.948T>C (p.Thr316=)
c.337+60128T>C (n.337+60128T>C)
c.574T>C
c.1275T>C (p.Thr425=)
c.1194T>C (p.Thr398=)
c.1497T>C (p.Thr499=)
c.1104T>C (p.Thr368=)
c.1191T>C (p.Thr397=)
c.1350T>C (p.Thr450=)
c.1119T>C (p.Thr373=)
12g.66455491A>TCA480573964GRIP1c.1341T>A (p.Thr447=)
c.1272T>A (p.Thr424=)
c.1116T>A (p.Thr372=)
c.378T>A
c.874+7433T>A (n.874+7433T>A)
c.716T>A
c.948T>A (p.Thr316=)
c.337+60128T>A (n.337+60128T>A)
c.574T>A
c.1275T>A (p.Thr425=)
c.1194T>A (p.Thr398=)
c.1497T>A (p.Thr499=)
c.1104T>A (p.Thr368=)
c.1191T>A (p.Thr397=)
c.1350T>A (p.Thr450=)
c.1119T>A (p.Thr373=)
12g.66455492G>ACA385626081GRIP1c.1340C>T (p.Thr447Ile)
c.1271C>T (p.Thr424Ile)
c.1115C>T (p.Thr372Ile)
c.377C>T
c.874+7432C>T (n.874+7432C>T)
c.715C>T
c.947C>T (p.Thr316Ile)
c.337+60127C>T (n.337+60127C>T)
c.573C>T
c.1274C>T (p.Thr425Ile)
c.1193C>T (p.Thr398Ile)
c.1496C>T (p.Thr499Ile)
c.1103C>T (p.Thr368Ile)
c.1190C>T (p.Thr397Ile)
c.1349C>T (p.Thr450Ile)
c.1118C>T (p.Thr373Ile)
12g.66455492G>CCA385626086GRIP1c.1340C>G (p.Thr447Ser)
c.1271C>G (p.Thr424Ser)
c.1115C>G (p.Thr372Ser)
c.377C>G
c.874+7432C>G (n.874+7432C>G)
c.715C>G
c.947C>G (p.Thr316Ser)
c.337+60127C>G (n.337+60127C>G)
c.573C>G
c.1274C>G (p.Thr425Ser)
c.1193C>G (p.Thr398Ser)
c.1496C>G (p.Thr499Ser)
c.1103C>G (p.Thr368Ser)
c.1190C>G (p.Thr397Ser)
c.1349C>G (p.Thr450Ser)
c.1118C>G (p.Thr373Ser)
12g.66455492G>TCA385626083GRIP1c.1340C>A (p.Thr447Asn)
c.1271C>A (p.Thr424Asn)
c.1115C>A (p.Thr372Asn)
c.377C>A
c.874+7432C>A (n.874+7432C>A)
c.715C>A
c.947C>A (p.Thr316Asn)
c.337+60127C>A (n.337+60127C>A)
c.573C>A
c.1274C>A (p.Thr425Asn)
c.1193C>A (p.Thr398Asn)
c.1496C>A (p.Thr499Asn)
c.1103C>A (p.Thr368Asn)
c.1190C>A (p.Thr397Asn)
c.1349C>A (p.Thr450Asn)
c.1118C>A (p.Thr373Asn)
12g.66455493T>ACA385626089GRIP1c.1339A>T (p.Thr447Ser)
c.1270A>T (p.Thr424Ser)
c.1114A>T (p.Thr372Ser)
c.376A>T
c.874+7431A>T (n.874+7431A>T)
c.714A>T
c.946A>T (p.Thr316Ser)
c.337+60126A>T (n.337+60126A>T)
c.572A>T
c.1273A>T (p.Thr425Ser)
c.1192A>T (p.Thr398Ser)
c.1495A>T (p.Thr499Ser)
c.1102A>T (p.Thr368Ser)
c.1189A>T (p.Thr397Ser)
c.1348A>T (p.Thr450Ser)
c.1117A>T (p.Thr373Ser)
12g.66455493T>CCA385626090GRIP1c.1339A>G (p.Thr447Ala)
c.1270A>G (p.Thr424Ala)
c.1114A>G (p.Thr372Ala)
c.376A>G
c.874+7431A>G (n.874+7431A>G)
c.714A>G
c.946A>G (p.Thr316Ala)
c.337+60126A>G (n.337+60126A>G)
c.572A>G
c.1273A>G (p.Thr425Ala)
c.1192A>G (p.Thr398Ala)
c.1495A>G (p.Thr499Ala)
c.1102A>G (p.Thr368Ala)
c.1189A>G (p.Thr397Ala)
c.1348A>G (p.Thr450Ala)
c.1117A>G (p.Thr373Ala)
12g.66455493T>GCA385626091GRIP1c.1339A>C (p.Thr447Pro)
c.1270A>C (p.Thr424Pro)
c.1114A>C (p.Thr372Pro)
c.376A>C
c.874+7431A>C (n.874+7431A>C)
c.714A>C
c.946A>C (p.Thr316Pro)
c.337+60126A>C (n.337+60126A>C)
c.572A>C
c.1273A>C (p.Thr425Pro)
c.1192A>C (p.Thr398Pro)
c.1495A>C (p.Thr499Pro)
c.1102A>C (p.Thr368Pro)
c.1189A>C (p.Thr397Pro)
c.1348A>C (p.Thr450Pro)
c.1117A>C (p.Thr373Pro)
12g.66455494C>ACA480573969GRIP1c.1338G>T (p.Gly446=)
c.1269G>T (p.Gly423=)
c.1113G>T (p.Gly371=)
c.375G>T
c.874+7430G>T (n.874+7430G>T)
c.713G>T
c.945G>T (p.Gly315=)
c.337+60125G>T (n.337+60125G>T)
c.571G>T
c.1272G>T (p.Gly424=)
c.1191G>T (p.Gly397=)
c.1494G>T (p.Gly498=)
c.1101G>T (p.Gly367=)
c.1188G>T (p.Gly396=)
c.1347G>T (p.Gly449=)
c.1116G>T (p.Gly372=)
 gnomAD v4
12g.66455494C=CA2043057208GRIP1c.1338G= (p.Gly446=)
c.1269G= (p.Gly423=)
c.1113G= (p.Gly371=)
c.375G=
c.874+7430G= (n.874+7430G=)
c.713G=
c.945G= (p.Gly315=)
c.337+60125G= (n.337+60125G=)
c.571G=
c.1272G= (p.Gly424=)
c.1191G= (p.Gly397=)
c.1494G= (p.Gly498=)
c.1101G= (p.Gly367=)
c.1188G= (p.Gly396=)
c.1347G= (p.Gly449=)
c.1116G= (p.Gly372=)
12g.66455494C>GCA480573970GRIP1c.1338G>C (p.Gly446=)
c.1269G>C (p.Gly423=)
c.1113G>C (p.Gly371=)
c.375G>C
c.874+7430G>C (n.874+7430G>C)
c.713G>C
c.945G>C (p.Gly315=)
c.337+60125G>C (n.337+60125G>C)
c.571G>C
c.1272G>C (p.Gly424=)
c.1191G>C (p.Gly397=)
c.1494G>C (p.Gly498=)
c.1101G>C (p.Gly367=)
c.1188G>C (p.Gly396=)
c.1347G>C (p.Gly449=)
c.1116G>C (p.Gly372=)
 gnomAD v4
12g.66455494C>TCA6674423GRIP1c.1338G>A (p.Gly446=)
c.1269G>A (p.Gly423=)
c.1113G>A (p.Gly371=)
c.375G>A
c.874+7430G>A (n.874+7430G>A)
c.713G>A
c.945G>A (p.Gly315=)
c.337+60125G>A (n.337+60125G>A)
c.571G>A
c.1272G>A (p.Gly424=)
c.1191G>A (p.Gly397=)
c.1494G>A (p.Gly498=)
c.1101G>A (p.Gly367=)
c.1188G>A (p.Gly396=)
c.1347G>A (p.Gly449=)
c.1116G>A (p.Gly372=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455497delCA2619716074GRIP1c.1338del (p.Thr447LeufsTer15)
c.1269del (p.Thr424LeufsTer15)
c.1113del (p.Thr372LeufsTer15)
c.375del
c.874+7430del (n.874+7430del)
c.713del
c.945del (p.Thr316LeufsTer15)
c.337+60125del (n.337+60125del)
c.571del
c.1272del (p.Thr425LeufsTer15)
c.1191del (p.Thr398LeufsTer15)
c.1494del (p.Thr499LeufsTer15)
c.1101del (p.Thr368LeufsTer15)
c.1188del (p.Thr397LeufsTer15)
c.1347del (p.Thr450LeufsTer15)
c.1116del (p.Thr373LeufsTer15)
 gnomAD v4
12g.66455495C>ACA385626092GRIP1c.1337G>T (p.Gly446Val)
c.1268G>T (p.Gly423Val)
c.1112G>T (p.Gly371Val)
c.374G>T
c.874+7429G>T (n.874+7429G>T)
c.712G>T
c.944G>T (p.Gly315Val)
c.337+60124G>T (n.337+60124G>T)
c.570G>T
c.1271G>T (p.Gly424Val)
c.1190G>T (p.Gly397Val)
c.1493G>T (p.Gly498Val)
c.1100G>T (p.Gly367Val)
c.1187G>T (p.Gly396Val)
c.1346G>T (p.Gly449Val)
c.1115G>T (p.Gly372Val)
12g.66455495C>GCA385626093GRIP1c.1337G>C (p.Gly446Ala)
c.1268G>C (p.Gly423Ala)
c.1112G>C (p.Gly371Ala)
c.374G>C
c.874+7429G>C (n.874+7429G>C)
c.712G>C
c.944G>C (p.Gly315Ala)
c.337+60124G>C (n.337+60124G>C)
c.570G>C
c.1271G>C (p.Gly424Ala)
c.1190G>C (p.Gly397Ala)
c.1493G>C (p.Gly498Ala)
c.1100G>C (p.Gly367Ala)
c.1187G>C (p.Gly396Ala)
c.1346G>C (p.Gly449Ala)
c.1115G>C (p.Gly372Ala)
12g.66455495C>TCA385626096GRIP1c.1337G>A (p.Gly446Glu)
c.1268G>A (p.Gly423Glu)
c.1112G>A (p.Gly371Glu)
c.374G>A
c.874+7429G>A (n.874+7429G>A)
c.712G>A
c.944G>A (p.Gly315Glu)
c.337+60124G>A (n.337+60124G>A)
c.570G>A
c.1271G>A (p.Gly424Glu)
c.1190G>A (p.Gly397Glu)
c.1493G>A (p.Gly498Glu)
c.1100G>A (p.Gly367Glu)
c.1187G>A (p.Gly396Glu)
c.1346G>A (p.Gly449Glu)
c.1115G>A (p.Gly372Glu)
12g.66455496C>ACA385626098GRIP1c.1336G>T (p.Gly446Trp)
c.1267G>T (p.Gly423Trp)
c.1111G>T (p.Gly371Trp)
c.373G>T
c.874+7428G>T (n.874+7428G>T)
c.711G>T
c.943G>T (p.Gly315Trp)
c.337+60123G>T (n.337+60123G>T)
c.569G>T
c.1270G>T (p.Gly424Trp)
c.1189G>T (p.Gly397Trp)
c.1492G>T (p.Gly498Trp)
c.1099G>T (p.Gly367Trp)
c.1186G>T (p.Gly396Trp)
c.1345G>T (p.Gly449Trp)
c.1114G>T (p.Gly372Trp)
12g.66455496C>GCA385626100GRIP1c.1336G>C (p.Gly446Arg)
c.1267G>C (p.Gly423Arg)
c.1111G>C (p.Gly371Arg)
c.373G>C
c.874+7428G>C (n.874+7428G>C)
c.711G>C
c.943G>C (p.Gly315Arg)
c.337+60123G>C (n.337+60123G>C)
c.569G>C
c.1270G>C (p.Gly424Arg)
c.1189G>C (p.Gly397Arg)
c.1492G>C (p.Gly498Arg)
c.1099G>C (p.Gly367Arg)
c.1186G>C (p.Gly396Arg)
c.1345G>C (p.Gly449Arg)
c.1114G>C (p.Gly372Arg)
12g.66455496C>TCA385626102GRIP1c.1336G>A (p.Gly446Arg)
c.1267G>A (p.Gly423Arg)
c.1111G>A (p.Gly371Arg)
c.373G>A
c.874+7428G>A (n.874+7428G>A)
c.711G>A
c.943G>A (p.Gly315Arg)
c.337+60123G>A (n.337+60123G>A)
c.569G>A
c.1270G>A (p.Gly424Arg)
c.1189G>A (p.Gly397Arg)
c.1492G>A (p.Gly498Arg)
c.1099G>A (p.Gly367Arg)
c.1186G>A (p.Gly396Arg)
c.1345G>A (p.Gly449Arg)
c.1114G>A (p.Gly372Arg)
12g.66455497C>ACA385626103GRIP1c.1335G>T (p.Met445Ile)
c.1266G>T (p.Met422Ile)
c.1110G>T (p.Met370Ile)
c.372G>T
c.874+7427G>T (n.874+7427G>T)
c.710G>T
c.942G>T (p.Met314Ile)
c.337+60122G>T (n.337+60122G>T)
c.568G>T
c.1269G>T (p.Met423Ile)
c.1188G>T (p.Met396Ile)
c.1491G>T (p.Met497Ile)
c.1098G>T (p.Met366Ile)
c.1185G>T (p.Met395Ile)
c.1344G>T (p.Met448Ile)
c.1113G>T (p.Met371Ile)
12g.66455497C=CA2043057209GRIP1c.1335G= (p.Met445=)
c.1266G= (p.Met422=)
c.1110G= (p.Met370=)
c.372G=
c.874+7427G= (n.874+7427G=)
c.710G=
c.942G= (p.Met314=)
c.337+60122G= (n.337+60122G=)
c.568G=
c.1269G= (p.Met423=)
c.1188G= (p.Met396=)
c.1491G= (p.Met497=)
c.1098G= (p.Met366=)
c.1185G= (p.Met395=)
c.1344G= (p.Met448=)
c.1113G= (p.Met371=)
12g.66455497C>GCA385626104GRIP1c.1335G>C (p.Met445Ile)
c.1266G>C (p.Met422Ile)
c.1110G>C (p.Met370Ile)
c.372G>C
c.874+7427G>C (n.874+7427G>C)
c.710G>C
c.942G>C (p.Met314Ile)
c.337+60122G>C (n.337+60122G>C)
c.568G>C
c.1269G>C (p.Met423Ile)
c.1188G>C (p.Met396Ile)
c.1491G>C (p.Met497Ile)
c.1098G>C (p.Met366Ile)
c.1185G>C (p.Met395Ile)
c.1344G>C (p.Met448Ile)
c.1113G>C (p.Met371Ile)
12g.66455497C>TCA385626105GRIP1c.1335G>A (p.Met445Ile)
c.1266G>A (p.Met422Ile)
c.1110G>A (p.Met370Ile)
c.372G>A
c.874+7427G>A (n.874+7427G>A)
c.710G>A
c.942G>A (p.Met314Ile)
c.337+60122G>A (n.337+60122G>A)
c.568G>A
c.1269G>A (p.Met423Ile)
c.1188G>A (p.Met396Ile)
c.1491G>A (p.Met497Ile)
c.1098G>A (p.Met366Ile)
c.1185G>A (p.Met395Ile)
c.1344G>A (p.Met448Ile)
c.1113G>A (p.Met371Ile)
 dbSNP
12g.66455498A=CA2043057210GRIP1c.1334T= (p.Met445=)
c.1265T= (p.Met422=)
c.1109T= (p.Met370=)
c.371T=
c.874+7426T= (n.874+7426T=)
c.709T=
c.941T= (p.Met314=)
c.337+60121T= (n.337+60121T=)
c.567T=
c.1268T= (p.Met423=)
c.1187T= (p.Met396=)
c.1490T= (p.Met497=)
c.1097T= (p.Met366=)
c.1184T= (p.Met395=)
c.1343T= (p.Met448=)
c.1112T= (p.Met371=)
12g.66455498A>CCA385626106GRIP1c.1334T>G (p.Met445Arg)
c.1265T>G (p.Met422Arg)
c.1109T>G (p.Met370Arg)
c.371T>G
c.874+7426T>G (n.874+7426T>G)
c.709T>G
c.941T>G (p.Met314Arg)
c.337+60121T>G (n.337+60121T>G)
c.567T>G
c.1268T>G (p.Met423Arg)
c.1187T>G (p.Met396Arg)
c.1490T>G (p.Met497Arg)
c.1097T>G (p.Met366Arg)
c.1184T>G (p.Met395Arg)
c.1343T>G (p.Met448Arg)
c.1112T>G (p.Met371Arg)
12g.66455498A>GCA238353665GRIP1c.1334T>C (p.Met445Thr)
c.1265T>C (p.Met422Thr)
c.1109T>C (p.Met370Thr)
c.371T>C
c.874+7426T>C (n.874+7426T>C)
c.709T>C
c.941T>C (p.Met314Thr)
c.337+60121T>C (n.337+60121T>C)
c.567T>C
c.1268T>C (p.Met423Thr)
c.1187T>C (p.Met396Thr)
c.1490T>C (p.Met497Thr)
c.1097T>C (p.Met366Thr)
c.1184T>C (p.Met395Thr)
c.1343T>C (p.Met448Thr)
c.1112T>C (p.Met371Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.66455498A>TCA385626108GRIP1c.1334T>A (p.Met445Lys)
c.1265T>A (p.Met422Lys)
c.1109T>A (p.Met370Lys)
c.371T>A
c.874+7426T>A (n.874+7426T>A)
c.709T>A
c.941T>A (p.Met314Lys)
c.337+60121T>A (n.337+60121T>A)
c.567T>A
c.1268T>A (p.Met423Lys)
c.1187T>A (p.Met396Lys)
c.1490T>A (p.Met497Lys)
c.1097T>A (p.Met366Lys)
c.1184T>A (p.Met395Lys)
c.1343T>A (p.Met448Lys)
c.1112T>A (p.Met371Lys)
12g.66455499T>ACA6674425GRIP1c.1333A>T (p.Met445Leu)
c.1264A>T (p.Met422Leu)
c.1108A>T (p.Met370Leu)
c.370A>T
c.874+7425A>T (n.874+7425A>T)
c.708A>T
c.940A>T (p.Met314Leu)
c.337+60120A>T (n.337+60120A>T)
c.566A>T
c.1267A>T (p.Met423Leu)
c.1186A>T (p.Met396Leu)
c.1489A>T (p.Met497Leu)
c.1096A>T (p.Met366Leu)
c.1183A>T (p.Met395Leu)
c.1342A>T (p.Met448Leu)
c.1111A>T (p.Met371Leu)
 dbSNP ExAC gnomAD v4
12g.66455499T>CCA6674424GRIP1c.1333A>G (p.Met445Val)
c.1264A>G (p.Met422Val)
c.1108A>G (p.Met370Val)
c.370A>G
c.874+7425A>G (n.874+7425A>G)
c.708A>G
c.940A>G (p.Met314Val)
c.337+60120A>G (n.337+60120A>G)
c.566A>G
c.1267A>G (p.Met423Val)
c.1186A>G (p.Met396Val)
c.1489A>G (p.Met497Val)
c.1096A>G (p.Met366Val)
c.1183A>G (p.Met395Val)
c.1342A>G (p.Met448Val)
c.1111A>G (p.Met371Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455499T>GCA385626113GRIP1c.1333A>C (p.Met445Leu)
c.1264A>C (p.Met422Leu)
c.1108A>C (p.Met370Leu)
c.370A>C
c.874+7425A>C (n.874+7425A>C)
c.708A>C
c.940A>C (p.Met314Leu)
c.337+60120A>C (n.337+60120A>C)
c.566A>C
c.1267A>C (p.Met423Leu)
c.1186A>C (p.Met396Leu)
c.1489A>C (p.Met497Leu)
c.1096A>C (p.Met366Leu)
c.1183A>C (p.Met395Leu)
c.1342A>C (p.Met448Leu)
c.1111A>C (p.Met371Leu)
12g.66455499T=CA2043057211GRIP1c.1333A= (p.Met445=)
c.1264A= (p.Met422=)
c.1108A= (p.Met370=)
c.370A=
c.874+7425A= (n.874+7425A=)
c.708A=
c.940A= (p.Met314=)
c.337+60120A= (n.337+60120A=)
c.566A=
c.1267A= (p.Met423=)
c.1186A= (p.Met396=)
c.1489A= (p.Met497=)
c.1096A= (p.Met366=)
c.1183A= (p.Met395=)
c.1342A= (p.Met448=)
c.1111A= (p.Met371=)
12g.66455500G>ACA6674426GRIP1c.1332C>T (p.Asn444=)
c.1263C>T (p.Asn421=)
c.1107C>T (p.Asn369=)
c.369C>T
c.874+7424C>T (n.874+7424C>T)
c.707C>T
c.939C>T (p.Asn313=)
c.337+60119C>T (n.337+60119C>T)
c.565C>T
c.1266C>T (p.Asn422=)
c.1185C>T (p.Asn395=)
c.1488C>T (p.Asn496=)
c.1095C>T (p.Asn365=)
c.1182C>T (p.Asn394=)
c.1341C>T (p.Asn447=)
c.1110C>T (p.Asn370=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455500G>CCA385626118GRIP1c.1332C>G (p.Asn444Lys)
c.1263C>G (p.Asn421Lys)
c.1107C>G (p.Asn369Lys)
c.369C>G
c.874+7424C>G (n.874+7424C>G)
c.707C>G
c.939C>G (p.Asn313Lys)
c.337+60119C>G (n.337+60119C>G)
c.565C>G
c.1266C>G (p.Asn422Lys)
c.1185C>G (p.Asn395Lys)
c.1488C>G (p.Asn496Lys)
c.1095C>G (p.Asn365Lys)
c.1182C>G (p.Asn394Lys)
c.1341C>G (p.Asn447Lys)
c.1110C>G (p.Asn370Lys)
12g.66455500G=CA2043057212GRIP1c.1332C= (p.Asn444=)
c.1263C= (p.Asn421=)
c.1107C= (p.Asn369=)
c.369C=
c.874+7424C= (n.874+7424C=)
c.707C=
c.939C= (p.Asn313=)
c.337+60119C= (n.337+60119C=)
c.565C=
c.1266C= (p.Asn422=)
c.1185C= (p.Asn395=)
c.1488C= (p.Asn496=)
c.1095C= (p.Asn365=)
c.1182C= (p.Asn394=)
c.1341C= (p.Asn447=)
c.1110C= (p.Asn370=)
12g.66455500G>TCA385626121GRIP1c.1332C>A (p.Asn444Lys)
c.1263C>A (p.Asn421Lys)
c.1107C>A (p.Asn369Lys)
c.369C>A
c.874+7424C>A (n.874+7424C>A)
c.707C>A
c.939C>A (p.Asn313Lys)
c.337+60119C>A (n.337+60119C>A)
c.565C>A
c.1266C>A (p.Asn422Lys)
c.1185C>A (p.Asn395Lys)
c.1488C>A (p.Asn496Lys)
c.1095C>A (p.Asn365Lys)
c.1182C>A (p.Asn394Lys)
c.1341C>A (p.Asn447Lys)
c.1110C>A (p.Asn370Lys)
 gnomAD v4
12g.66455501T>ACA385626124GRIP1c.1331A>T (p.Asn444Ile)
c.1262A>T (p.Asn421Ile)
c.1106A>T (p.Asn369Ile)
c.368A>T
c.874+7423A>T (n.874+7423A>T)
c.706A>T
c.938A>T (p.Asn313Ile)
c.337+60118A>T (n.337+60118A>T)
c.564A>T
c.1265A>T (p.Asn422Ile)
c.1184A>T (p.Asn395Ile)
c.1487A>T (p.Asn496Ile)
c.1094A>T (p.Asn365Ile)
c.1181A>T (p.Asn394Ile)
c.1340A>T (p.Asn447Ile)
c.1109A>T (p.Asn370Ile)
12g.66455501T>CCA385626127GRIP1c.1331A>G (p.Asn444Ser)
c.1262A>G (p.Asn421Ser)
c.1106A>G (p.Asn369Ser)
c.368A>G
c.874+7423A>G (n.874+7423A>G)
c.706A>G
c.938A>G (p.Asn313Ser)
c.337+60118A>G (n.337+60118A>G)
c.564A>G
c.1265A>G (p.Asn422Ser)
c.1184A>G (p.Asn395Ser)
c.1487A>G (p.Asn496Ser)
c.1094A>G (p.Asn365Ser)
c.1181A>G (p.Asn394Ser)
c.1340A>G (p.Asn447Ser)
c.1109A>G (p.Asn370Ser)
 COSMIC
12g.66455501T>GCA385626128GRIP1c.1331A>C (p.Asn444Thr)
c.1262A>C (p.Asn421Thr)
c.1106A>C (p.Asn369Thr)
c.368A>C
c.874+7423A>C (n.874+7423A>C)
c.706A>C
c.938A>C (p.Asn313Thr)
c.337+60118A>C (n.337+60118A>C)
c.564A>C
c.1265A>C (p.Asn422Thr)
c.1184A>C (p.Asn395Thr)
c.1487A>C (p.Asn496Thr)
c.1094A>C (p.Asn365Thr)
c.1181A>C (p.Asn394Thr)
c.1340A>C (p.Asn447Thr)
c.1109A>C (p.Asn370Thr)
12g.66455502T>ACA385626133GRIP1c.1330A>T (p.Asn444Tyr)
c.1261A>T (p.Asn421Tyr)
c.1105A>T (p.Asn369Tyr)
c.367A>T
c.874+7422A>T (n.874+7422A>T)
c.705A>T
c.937A>T (p.Asn313Tyr)
c.337+60117A>T (n.337+60117A>T)
c.563A>T
c.1264A>T (p.Asn422Tyr)
c.1183A>T (p.Asn395Tyr)
c.1486A>T (p.Asn496Tyr)
c.1093A>T (p.Asn365Tyr)
c.1180A>T (p.Asn394Tyr)
c.1339A>T (p.Asn447Tyr)
c.1108A>T (p.Asn370Tyr)
12g.66455502T>CCA385626131GRIP1c.1330A>G (p.Asn444Asp)
c.1261A>G (p.Asn421Asp)
c.1105A>G (p.Asn369Asp)
c.367A>G
c.874+7422A>G (n.874+7422A>G)
c.705A>G
c.937A>G (p.Asn313Asp)
c.337+60117A>G (n.337+60117A>G)
c.563A>G
c.1264A>G (p.Asn422Asp)
c.1183A>G (p.Asn395Asp)
c.1486A>G (p.Asn496Asp)
c.1093A>G (p.Asn365Asp)
c.1180A>G (p.Asn394Asp)
c.1339A>G (p.Asn447Asp)
c.1108A>G (p.Asn370Asp)
12g.66455502T>GCA385626129GRIP1c.1330A>C (p.Asn444His)
c.1261A>C (p.Asn421His)
c.1105A>C (p.Asn369His)
c.367A>C
c.874+7422A>C (n.874+7422A>C)
c.705A>C
c.937A>C (p.Asn313His)
c.337+60117A>C (n.337+60117A>C)
c.563A>C
c.1264A>C (p.Asn422His)
c.1183A>C (p.Asn395His)
c.1486A>C (p.Asn496His)
c.1093A>C (p.Asn365His)
c.1180A>C (p.Asn394His)
c.1339A>C (p.Asn447His)
c.1108A>C (p.Asn370His)
 gnomAD v4
12g.66455503C>ACA480573991GRIP1c.1329G>T (p.Leu443=)
c.1260G>T (p.Leu420=)
c.1104G>T (p.Leu368=)
c.366G>T
c.874+7421G>T (n.874+7421G>T)
c.704G>T
c.936G>T (p.Leu312=)
c.337+60116G>T (n.337+60116G>T)
c.562G>T
c.1263G>T (p.Leu421=)
c.1182G>T (p.Leu394=)
c.1485G>T (p.Leu495=)
c.1092G>T (p.Leu364=)
c.1179G>T (p.Leu393=)
c.1338G>T (p.Leu446=)
c.1107G>T (p.Leu369=)
12g.66455503C>GCA480573992GRIP1c.1329G>C (p.Leu443=)
c.1260G>C (p.Leu420=)
c.1104G>C (p.Leu368=)
c.366G>C
c.874+7421G>C (n.874+7421G>C)
c.704G>C
c.936G>C (p.Leu312=)
c.337+60116G>C (n.337+60116G>C)
c.562G>C
c.1263G>C (p.Leu421=)
c.1182G>C (p.Leu394=)
c.1485G>C (p.Leu495=)
c.1092G>C (p.Leu364=)
c.1179G>C (p.Leu393=)
c.1338G>C (p.Leu446=)
c.1107G>C (p.Leu369=)
12g.66455503C>TCA480573993GRIP1c.1329G>A (p.Leu443=)
c.1260G>A (p.Leu420=)
c.1104G>A (p.Leu368=)
c.366G>A
c.874+7421G>A (n.874+7421G>A)
c.704G>A
c.936G>A (p.Leu312=)
c.337+60116G>A (n.337+60116G>A)
c.562G>A
c.1263G>A (p.Leu421=)
c.1182G>A (p.Leu394=)
c.1485G>A (p.Leu495=)
c.1092G>A (p.Leu364=)
c.1179G>A (p.Leu393=)
c.1338G>A (p.Leu446=)
c.1107G>A (p.Leu369=)
12g.66455504A=CA2043057213GRIP1c.1328T= (p.Leu443=)
c.1259T= (p.Leu420=)
c.1103T= (p.Leu368=)
c.365T=
c.874+7420T= (n.874+7420T=)
c.703T=
c.935T= (p.Leu312=)
c.337+60115T= (n.337+60115T=)
c.561T=
c.1262T= (p.Leu421=)
c.1181T= (p.Leu394=)
c.1484T= (p.Leu495=)
c.1091T= (p.Leu364=)
c.1178T= (p.Leu393=)
c.1337T= (p.Leu446=)
c.1106T= (p.Leu369=)
12g.66455504A>CCA385626135GRIP1c.1328T>G (p.Leu443Arg)
c.1259T>G (p.Leu420Arg)
c.1103T>G (p.Leu368Arg)
c.365T>G
c.874+7420T>G (n.874+7420T>G)
c.703T>G
c.935T>G (p.Leu312Arg)
c.337+60115T>G (n.337+60115T>G)
c.561T>G
c.1262T>G (p.Leu421Arg)
c.1181T>G (p.Leu394Arg)
c.1484T>G (p.Leu495Arg)
c.1091T>G (p.Leu364Arg)
c.1178T>G (p.Leu393Arg)
c.1337T>G (p.Leu446Arg)
c.1106T>G (p.Leu369Arg)
 dbSNP gnomAD v3 gnomAD v4
12g.66455504A>GCA385626141GRIP1c.1328T>C (p.Leu443Pro)
c.1259T>C (p.Leu420Pro)
c.1103T>C (p.Leu368Pro)
c.365T>C
c.874+7420T>C (n.874+7420T>C)
c.703T>C
c.935T>C (p.Leu312Pro)
c.337+60115T>C (n.337+60115T>C)
c.561T>C
c.1262T>C (p.Leu421Pro)
c.1181T>C (p.Leu394Pro)
c.1484T>C (p.Leu495Pro)
c.1091T>C (p.Leu364Pro)
c.1178T>C (p.Leu393Pro)
c.1337T>C (p.Leu446Pro)
c.1106T>C (p.Leu369Pro)
12g.66455504A>TCA385626138GRIP1c.1328T>A (p.Leu443Gln)
c.1259T>A (p.Leu420Gln)
c.1103T>A (p.Leu368Gln)
c.365T>A
c.874+7420T>A (n.874+7420T>A)
c.703T>A
c.935T>A (p.Leu312Gln)
c.337+60115T>A (n.337+60115T>A)
c.561T>A
c.1262T>A (p.Leu421Gln)
c.1181T>A (p.Leu394Gln)
c.1484T>A (p.Leu495Gln)
c.1091T>A (p.Leu364Gln)
c.1178T>A (p.Leu393Gln)
c.1337T>A (p.Leu446Gln)
c.1106T>A (p.Leu369Gln)
12g.66455505G>ACA480573998GRIP1c.1327C>T (p.Leu443=)
c.1258C>T (p.Leu420=)
c.1102C>T (p.Leu368=)
c.364C>T
c.874+7419C>T (n.874+7419C>T)
c.702C>T
c.934C>T (p.Leu312=)
c.337+60114C>T (n.337+60114C>T)
c.560C>T
c.1261C>T (p.Leu421=)
c.1180C>T (p.Leu394=)
c.1483C>T (p.Leu495=)
c.1090C>T (p.Leu364=)
c.1177C>T (p.Leu393=)
c.1336C>T (p.Leu446=)
c.1105C>T (p.Leu369=)
 dbSNP
12g.66455505G>CCA385626144GRIP1c.1327C>G (p.Leu443Val)
c.1258C>G (p.Leu420Val)
c.1102C>G (p.Leu368Val)
c.364C>G
c.874+7419C>G (n.874+7419C>G)
c.702C>G
c.934C>G (p.Leu312Val)
c.337+60114C>G (n.337+60114C>G)
c.560C>G
c.1261C>G (p.Leu421Val)
c.1180C>G (p.Leu394Val)
c.1483C>G (p.Leu495Val)
c.1090C>G (p.Leu364Val)
c.1177C>G (p.Leu393Val)
c.1336C>G (p.Leu446Val)
c.1105C>G (p.Leu369Val)
12g.66455505G=CA2043057214GRIP1c.1327C= (p.Leu443=)
c.1258C= (p.Leu420=)
c.1102C= (p.Leu368=)
c.364C=
c.874+7419C= (n.874+7419C=)
c.702C=
c.934C= (p.Leu312=)
c.337+60114C= (n.337+60114C=)
c.560C=
c.1261C= (p.Leu421=)
c.1180C= (p.Leu394=)
c.1483C= (p.Leu495=)
c.1090C= (p.Leu364=)
c.1177C= (p.Leu393=)
c.1336C= (p.Leu446=)
c.1105C= (p.Leu369=)
12g.66455505G>TCA385626145GRIP1c.1327C>A (p.Leu443Met)
c.1258C>A (p.Leu420Met)
c.1102C>A (p.Leu368Met)
c.364C>A
c.874+7419C>A (n.874+7419C>A)
c.702C>A
c.934C>A (p.Leu312Met)
c.337+60114C>A (n.337+60114C>A)
c.560C>A
c.1261C>A (p.Leu421Met)
c.1180C>A (p.Leu394Met)
c.1483C>A (p.Leu495Met)
c.1090C>A (p.Leu364Met)
c.1177C>A (p.Leu393Met)
c.1336C>A (p.Leu446Met)
c.1105C>A (p.Leu369Met)
12g.66455506G>ACA6674427GRIP1c.1326C>T (p.Ser442=)
c.1257C>T (p.Ser419=)
c.1101C>T (p.Ser367=)
c.363C>T
c.874+7418C>T (n.874+7418C>T)
c.701C>T
c.933C>T (p.Ser311=)
c.337+60113C>T (n.337+60113C>T)
c.559C>T
c.1260C>T (p.Ser420=)
c.1179C>T (p.Ser393=)
c.1482C>T (p.Ser494=)
c.1089C>T (p.Ser363=)
c.1176C>T (p.Ser392=)
c.1335C>T (p.Ser445=)
c.1104C>T (p.Ser368=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455506G>CCA480574003GRIP1c.1326C>G (p.Ser442=)
c.1257C>G (p.Ser419=)
c.1101C>G (p.Ser367=)
c.363C>G
c.874+7418C>G (n.874+7418C>G)
c.701C>G
c.933C>G (p.Ser311=)
c.337+60113C>G (n.337+60113C>G)
c.559C>G
c.1260C>G (p.Ser420=)
c.1179C>G (p.Ser393=)
c.1482C>G (p.Ser494=)
c.1089C>G (p.Ser363=)
c.1176C>G (p.Ser392=)
c.1335C>G (p.Ser445=)
c.1104C>G (p.Ser368=)
12g.66455506G=CA2043057215GRIP1c.1326C= (p.Ser442=)
c.1257C= (p.Ser419=)
c.1101C= (p.Ser367=)
c.363C=
c.874+7418C= (n.874+7418C=)
c.701C=
c.933C= (p.Ser311=)
c.337+60113C= (n.337+60113C=)
c.559C=
c.1260C= (p.Ser420=)
c.1179C= (p.Ser393=)
c.1482C= (p.Ser494=)
c.1089C= (p.Ser363=)
c.1176C= (p.Ser392=)
c.1335C= (p.Ser445=)
c.1104C= (p.Ser368=)
12g.66455506G>TCA480574005GRIP1c.1326C>A (p.Ser442=)
c.1257C>A (p.Ser419=)
c.1101C>A (p.Ser367=)
c.363C>A
c.874+7418C>A (n.874+7418C>A)
c.701C>A
c.933C>A (p.Ser311=)
c.337+60113C>A (n.337+60113C>A)
c.559C>A
c.1260C>A (p.Ser420=)
c.1179C>A (p.Ser393=)
c.1482C>A (p.Ser494=)
c.1089C>A (p.Ser363=)
c.1176C>A (p.Ser392=)
c.1335C>A (p.Ser445=)
c.1104C>A (p.Ser368=)
12g.66455507G>ACA385626151GRIP1c.1325C>T (p.Ser442Phe)
c.1256C>T (p.Ser419Phe)
c.1100C>T (p.Ser367Phe)
c.362C>T
c.874+7417C>T (n.874+7417C>T)
c.700C>T
c.932C>T (p.Ser311Phe)
c.337+60112C>T (n.337+60112C>T)
c.558C>T
c.1259C>T (p.Ser420Phe)
c.1178C>T (p.Ser393Phe)
c.1481C>T (p.Ser494Phe)
c.1088C>T (p.Ser363Phe)
c.1175C>T (p.Ser392Phe)
c.1334C>T (p.Ser445Phe)
c.1103C>T (p.Ser368Phe)
 COSMIC COSMIC
12g.66455507G>CCA385626154GRIP1c.1325C>G (p.Ser442Cys)
c.1256C>G (p.Ser419Cys)
c.1100C>G (p.Ser367Cys)
c.362C>G
c.874+7417C>G (n.874+7417C>G)
c.700C>G
c.932C>G (p.Ser311Cys)
c.337+60112C>G (n.337+60112C>G)
c.558C>G
c.1259C>G (p.Ser420Cys)
c.1178C>G (p.Ser393Cys)
c.1481C>G (p.Ser494Cys)
c.1088C>G (p.Ser363Cys)
c.1175C>G (p.Ser392Cys)
c.1334C>G (p.Ser445Cys)
c.1103C>G (p.Ser368Cys)
12g.66455507G>TCA385626160GRIP1c.1325C>A (p.Ser442Tyr)
c.1256C>A (p.Ser419Tyr)
c.1100C>A (p.Ser367Tyr)
c.362C>A
c.874+7417C>A (n.874+7417C>A)
c.700C>A
c.932C>A (p.Ser311Tyr)
c.337+60112C>A (n.337+60112C>A)
c.558C>A
c.1259C>A (p.Ser420Tyr)
c.1178C>A (p.Ser393Tyr)
c.1481C>A (p.Ser494Tyr)
c.1088C>A (p.Ser363Tyr)
c.1175C>A (p.Ser392Tyr)
c.1334C>A (p.Ser445Tyr)
c.1103C>A (p.Ser368Tyr)
12g.66455508A=CA2043057216GRIP1c.1324T= (p.Ser442=)
c.1255T= (p.Ser419=)
c.1099T= (p.Ser367=)
c.361T=
c.874+7416T= (n.874+7416T=)
c.699T=
c.931T= (p.Ser311=)
c.337+60111T= (n.337+60111T=)
c.557T=
c.1258T= (p.Ser420=)
c.1177T= (p.Ser393=)
c.1480T= (p.Ser494=)
c.1087T= (p.Ser363=)
c.1174T= (p.Ser392=)
c.1333T= (p.Ser445=)
c.1102T= (p.Ser368=)
12g.66455508A>CCA385626163GRIP1c.1324T>G (p.Ser442Ala)
c.1255T>G (p.Ser419Ala)
c.1099T>G (p.Ser367Ala)
c.361T>G
c.874+7416T>G (n.874+7416T>G)
c.699T>G
c.931T>G (p.Ser311Ala)
c.337+60111T>G (n.337+60111T>G)
c.557T>G
c.1258T>G (p.Ser420Ala)
c.1177T>G (p.Ser393Ala)
c.1480T>G (p.Ser494Ala)
c.1087T>G (p.Ser363Ala)
c.1174T>G (p.Ser392Ala)
c.1333T>G (p.Ser445Ala)
c.1102T>G (p.Ser368Ala)
12g.66455508A>GCA385626166GRIP1c.1324T>C (p.Ser442Pro)
c.1255T>C (p.Ser419Pro)
c.1099T>C (p.Ser367Pro)
c.361T>C
c.874+7416T>C (n.874+7416T>C)
c.699T>C
c.931T>C (p.Ser311Pro)
c.337+60111T>C (n.337+60111T>C)
c.557T>C
c.1258T>C (p.Ser420Pro)
c.1177T>C (p.Ser393Pro)
c.1480T>C (p.Ser494Pro)
c.1087T>C (p.Ser363Pro)
c.1174T>C (p.Ser392Pro)
c.1333T>C (p.Ser445Pro)
c.1102T>C (p.Ser368Pro)
12g.66455508A>TCA6674428GRIP1c.1324T>A (p.Ser442Thr)
c.1255T>A (p.Ser419Thr)
c.1099T>A (p.Ser367Thr)
c.361T>A
c.874+7416T>A (n.874+7416T>A)
c.699T>A
c.931T>A (p.Ser311Thr)
c.337+60111T>A (n.337+60111T>A)
c.557T>A
c.1258T>A (p.Ser420Thr)
c.1177T>A (p.Ser393Thr)
c.1480T>A (p.Ser494Thr)
c.1087T>A (p.Ser363Thr)
c.1174T>A (p.Ser392Thr)
c.1333T>A (p.Ser445Thr)
c.1102T>A (p.Ser368Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455509A>CCA385626168GRIP1c.1323T>G (p.Ser441Arg)
c.1254T>G (p.Ser418Arg)
c.1098T>G (p.Ser366Arg)
c.360T>G
c.874+7415T>G (n.874+7415T>G)
c.698T>G
c.930T>G (p.Ser310Arg)
c.337+60110T>G (n.337+60110T>G)
c.556T>G
c.1257T>G (p.Ser419Arg)
c.1176T>G (p.Ser392Arg)
c.1479T>G (p.Ser493Arg)
c.1086T>G (p.Ser362Arg)
c.1173T>G (p.Ser391Arg)
c.1332T>G (p.Ser444Arg)
c.1101T>G (p.Ser367Arg)
12g.66455509A>GCA480574011GRIP1c.1323T>C (p.Ser441=)
c.1254T>C (p.Ser418=)
c.1098T>C (p.Ser366=)
c.360T>C
c.874+7415T>C (n.874+7415T>C)
c.698T>C
c.930T>C (p.Ser310=)
c.337+60110T>C (n.337+60110T>C)
c.556T>C
c.1257T>C (p.Ser419=)
c.1176T>C (p.Ser392=)
c.1479T>C (p.Ser493=)
c.1086T>C (p.Ser362=)
c.1173T>C (p.Ser391=)
c.1332T>C (p.Ser444=)
c.1101T>C (p.Ser367=)
12g.66455509A>TCA385626169GRIP1c.1323T>A (p.Ser441Arg)
c.1254T>A (p.Ser418Arg)
c.1098T>A (p.Ser366Arg)
c.360T>A
c.874+7415T>A (n.874+7415T>A)
c.698T>A
c.930T>A (p.Ser310Arg)
c.337+60110T>A (n.337+60110T>A)
c.556T>A
c.1257T>A (p.Ser419Arg)
c.1176T>A (p.Ser392Arg)
c.1479T>A (p.Ser493Arg)
c.1086T>A (p.Ser362Arg)
c.1173T>A (p.Ser391Arg)
c.1332T>A (p.Ser444Arg)
c.1101T>A (p.Ser367Arg)
12g.66455510C>ACA385626174GRIP1c.1322G>T (p.Ser441Ile)
c.1253G>T (p.Ser418Ile)
c.1097G>T (p.Ser366Ile)
c.359G>T
c.874+7414G>T (n.874+7414G>T)
c.697G>T
c.929G>T (p.Ser310Ile)
c.337+60109G>T (n.337+60109G>T)
c.555G>T
c.1256G>T (p.Ser419Ile)
c.1175G>T (p.Ser392Ile)
c.1478G>T (p.Ser493Ile)
c.1085G>T (p.Ser362Ile)
c.1172G>T (p.Ser391Ile)
c.1331G>T (p.Ser444Ile)
c.1100G>T (p.Ser367Ile)
12g.66455510C>GCA385626170GRIP1c.1322G>C (p.Ser441Thr)
c.1253G>C (p.Ser418Thr)
c.1097G>C (p.Ser366Thr)
c.359G>C
c.874+7414G>C (n.874+7414G>C)
c.697G>C
c.929G>C (p.Ser310Thr)
c.337+60109G>C (n.337+60109G>C)
c.555G>C
c.1256G>C (p.Ser419Thr)
c.1175G>C (p.Ser392Thr)
c.1478G>C (p.Ser493Thr)
c.1085G>C (p.Ser362Thr)
c.1172G>C (p.Ser391Thr)
c.1331G>C (p.Ser444Thr)
c.1100G>C (p.Ser367Thr)
12g.66455510C>TCA385626172GRIP1c.1322G>A (p.Ser441Asn)
c.1253G>A (p.Ser418Asn)
c.1097G>A (p.Ser366Asn)
c.359G>A
c.874+7414G>A (n.874+7414G>A)
c.697G>A
c.929G>A (p.Ser310Asn)
c.337+60109G>A (n.337+60109G>A)
c.555G>A
c.1256G>A (p.Ser419Asn)
c.1175G>A (p.Ser392Asn)
c.1478G>A (p.Ser493Asn)
c.1085G>A (p.Ser362Asn)
c.1172G>A (p.Ser391Asn)
c.1331G>A (p.Ser444Asn)
c.1100G>A (p.Ser367Asn)
 gnomAD v4
12g.66455511T>ACA385626178GRIP1c.1321A>T (p.Ser441Cys)
c.1252A>T (p.Ser418Cys)
c.1096A>T (p.Ser366Cys)
c.358A>T
c.874+7413A>T (n.874+7413A>T)
c.696A>T
c.928A>T (p.Ser310Cys)
c.337+60108A>T (n.337+60108A>T)
c.554A>T
c.1255A>T (p.Ser419Cys)
c.1174A>T (p.Ser392Cys)
c.1477A>T (p.Ser493Cys)
c.1084A>T (p.Ser362Cys)
c.1171A>T (p.Ser391Cys)
c.1330A>T (p.Ser444Cys)
c.1099A>T (p.Ser367Cys)
12g.66455511T>CCA385626180GRIP1c.1321A>G (p.Ser441Gly)
c.1252A>G (p.Ser418Gly)
c.1096A>G (p.Ser366Gly)
c.358A>G
c.874+7413A>G (n.874+7413A>G)
c.696A>G
c.928A>G (p.Ser310Gly)
c.337+60108A>G (n.337+60108A>G)
c.554A>G
c.1255A>G (p.Ser419Gly)
c.1174A>G (p.Ser392Gly)
c.1477A>G (p.Ser493Gly)
c.1084A>G (p.Ser362Gly)
c.1171A>G (p.Ser391Gly)
c.1330A>G (p.Ser444Gly)
c.1099A>G (p.Ser367Gly)
12g.66455511T>GCA385626182GRIP1c.1321A>C (p.Ser441Arg)
c.1252A>C (p.Ser418Arg)
c.1096A>C (p.Ser366Arg)
c.358A>C
c.874+7413A>C (n.874+7413A>C)
c.696A>C
c.928A>C (p.Ser310Arg)
c.337+60108A>C (n.337+60108A>C)
c.554A>C
c.1255A>C (p.Ser419Arg)
c.1174A>C (p.Ser392Arg)
c.1477A>C (p.Ser493Arg)
c.1084A>C (p.Ser362Arg)
c.1171A>C (p.Ser391Arg)
c.1330A>C (p.Ser444Arg)
c.1099A>C (p.Ser367Arg)
 gnomAD v4
12g.66455511_66455512insGACAGCCAATGGCA2509963652GRIP1c.1320_1321insCCATTGGCTGTC (p.Leu440_Ser441insProLeuAlaVal)
c.1251_1252insCCATTGGCTGTC (p.Leu417_Ser418insProLeuAlaVal)
c.1095_1096insCCATTGGCTGTC (p.Leu365_Ser366insProLeuAlaVal)
c.357_358insCCATTGGCTGTC
c.874+7412_874+7413insCCATTGGCTGTC (n.874+7412_874+7413insCCATTGGCTGTC)
c.695_696insCCATTGGCTGTC
c.927_928insCCATTGGCTGTC (p.Leu309_Ser310insProLeuAlaVal)
c.337+60107_337+60108insCCATTGGCTGTC (n.337+60107_337+60108insCCATTGGCTGTC)
c.553_554insCCATTGGCTGTC
c.1254_1255insCCATTGGCTGTC (p.Leu418_Ser419insProLeuAlaVal)
c.1173_1174insCCATTGGCTGTC (p.Leu391_Ser392insProLeuAlaVal)
c.1476_1477insCCATTGGCTGTC (p.Leu492_Ser493insProLeuAlaVal)
c.1083_1084insCCATTGGCTGTC (p.Leu361_Ser362insProLeuAlaVal)
c.1170_1171insCCATTGGCTGTC (p.Leu390_Ser391insProLeuAlaVal)
c.1329_1330insCCATTGGCTGTC (p.Leu443_Ser444insProLeuAlaVal)
c.1098_1099insCCATTGGCTGTC (p.Leu366_Ser367insProLeuAlaVal)
12g.66455512C>ACA480574019GRIP1c.1320G>T (p.Leu440=)
c.1251G>T (p.Leu417=)
c.1095G>T (p.Leu365=)
c.357G>T
c.874+7412G>T (n.874+7412G>T)
c.695G>T
c.927G>T (p.Leu309=)
c.337+60107G>T (n.337+60107G>T)
c.553G>T
c.1254G>T (p.Leu418=)
c.1173G>T (p.Leu391=)
c.1476G>T (p.Leu492=)
c.1083G>T (p.Leu361=)
c.1170G>T (p.Leu390=)
c.1329G>T (p.Leu443=)
c.1098G>T (p.Leu366=)
12g.66455512C>GCA480574021GRIP1c.1320G>C (p.Leu440=)
c.1251G>C (p.Leu417=)
c.1095G>C (p.Leu365=)
c.357G>C
c.874+7412G>C (n.874+7412G>C)
c.695G>C
c.927G>C (p.Leu309=)
c.337+60107G>C (n.337+60107G>C)
c.553G>C
c.1254G>C (p.Leu418=)
c.1173G>C (p.Leu391=)
c.1476G>C (p.Leu492=)
c.1083G>C (p.Leu361=)
c.1170G>C (p.Leu390=)
c.1329G>C (p.Leu443=)
c.1098G>C (p.Leu366=)
 COSMIC COSMIC
12g.66455512C>TCA480574022GRIP1c.1320G>A (p.Leu440=)
c.1251G>A (p.Leu417=)
c.1095G>A (p.Leu365=)
c.357G>A
c.874+7412G>A (n.874+7412G>A)
c.695G>A
c.927G>A (p.Leu309=)
c.337+60107G>A (n.337+60107G>A)
c.553G>A
c.1254G>A (p.Leu418=)
c.1173G>A (p.Leu391=)
c.1476G>A (p.Leu492=)
c.1083G>A (p.Leu361=)
c.1170G>A (p.Leu390=)
c.1329G>A (p.Leu443=)
c.1098G>A (p.Leu366=)
12g.66455513A>CCA385626185GRIP1c.1319T>G (p.Leu440Arg)
c.1250T>G (p.Leu417Arg)
c.1094T>G (p.Leu365Arg)
c.356T>G
c.874+7411T>G (n.874+7411T>G)
c.694T>G
c.926T>G (p.Leu309Arg)
c.337+60106T>G (n.337+60106T>G)
c.552T>G
c.1253T>G (p.Leu418Arg)
c.1172T>G (p.Leu391Arg)
c.1475T>G (p.Leu492Arg)
c.1082T>G (p.Leu361Arg)
c.1169T>G (p.Leu390Arg)
c.1328T>G (p.Leu443Arg)
c.1097T>G (p.Leu366Arg)
12g.66455513A>GCA385626187GRIP1c.1319T>C (p.Leu440Pro)
c.1250T>C (p.Leu417Pro)
c.1094T>C (p.Leu365Pro)
c.356T>C
c.874+7411T>C (n.874+7411T>C)
c.694T>C
c.926T>C (p.Leu309Pro)
c.337+60106T>C (n.337+60106T>C)
c.552T>C
c.1253T>C (p.Leu418Pro)
c.1172T>C (p.Leu391Pro)
c.1475T>C (p.Leu492Pro)
c.1082T>C (p.Leu361Pro)
c.1169T>C (p.Leu390Pro)
c.1328T>C (p.Leu443Pro)
c.1097T>C (p.Leu366Pro)
12g.66455513A>TCA385626190GRIP1c.1319T>A (p.Leu440Gln)
c.1250T>A (p.Leu417Gln)
c.1094T>A (p.Leu365Gln)
c.356T>A
c.874+7411T>A (n.874+7411T>A)
c.694T>A
c.926T>A (p.Leu309Gln)
c.337+60106T>A (n.337+60106T>A)
c.552T>A
c.1253T>A (p.Leu418Gln)
c.1172T>A (p.Leu391Gln)
c.1475T>A (p.Leu492Gln)
c.1082T>A (p.Leu361Gln)
c.1169T>A (p.Leu390Gln)
c.1328T>A (p.Leu443Gln)
c.1097T>A (p.Leu366Gln)
12g.66455514G>ACA480574026GRIP1c.1318C>T (p.Leu440=)
c.1249C>T (p.Leu417=)
c.1093C>T (p.Leu365=)
c.355C>T
c.874+7410C>T (n.874+7410C>T)
c.693C>T
c.925C>T (p.Leu309=)
c.337+60105C>T (n.337+60105C>T)
c.551C>T
c.1252C>T (p.Leu418=)
c.1171C>T (p.Leu391=)
c.1474C>T (p.Leu492=)
c.1081C>T (p.Leu361=)
c.1168C>T (p.Leu390=)
c.1327C>T (p.Leu443=)
c.1096C>T (p.Leu366=)
12g.66455514G>CCA385626196GRIP1c.1318C>G (p.Leu440Val)
c.1249C>G (p.Leu417Val)
c.1093C>G (p.Leu365Val)
c.355C>G
c.874+7410C>G (n.874+7410C>G)
c.693C>G
c.925C>G (p.Leu309Val)
c.337+60105C>G (n.337+60105C>G)
c.551C>G
c.1252C>G (p.Leu418Val)
c.1171C>G (p.Leu391Val)
c.1474C>G (p.Leu492Val)
c.1081C>G (p.Leu361Val)
c.1168C>G (p.Leu390Val)
c.1327C>G (p.Leu443Val)
c.1096C>G (p.Leu366Val)
12g.66455514G=CA2043057217GRIP1c.1318C= (p.Leu440=)
c.1249C= (p.Leu417=)
c.1093C= (p.Leu365=)
c.355C=
c.874+7410C= (n.874+7410C=)
c.693C=
c.925C= (p.Leu309=)
c.337+60105C= (n.337+60105C=)
c.551C=
c.1252C= (p.Leu418=)
c.1171C= (p.Leu391=)
c.1474C= (p.Leu492=)
c.1081C= (p.Leu361=)
c.1168C= (p.Leu390=)
c.1327C= (p.Leu443=)
c.1096C= (p.Leu366=)
12g.66455514G>TCA385626199GRIP1c.1318C>A (p.Leu440Met)
c.1249C>A (p.Leu417Met)
c.1093C>A (p.Leu365Met)
c.355C>A
c.874+7410C>A (n.874+7410C>A)
c.693C>A
c.925C>A (p.Leu309Met)
c.337+60105C>A (n.337+60105C>A)
c.551C>A
c.1252C>A (p.Leu418Met)
c.1171C>A (p.Leu391Met)
c.1474C>A (p.Leu492Met)
c.1081C>A (p.Leu361Met)
c.1168C>A (p.Leu390Met)
c.1327C>A (p.Leu443Met)
c.1096C>A (p.Leu366Met)
 dbSNP gnomAD v3 gnomAD v4
12g.66455515G>ACA480574027GRIP1c.1317C>T (p.Ser439=)
c.1248C>T (p.Ser416=)
c.1092C>T (p.Ser364=)
c.354C>T
c.874+7409C>T (n.874+7409C>T)
c.692C>T
c.924C>T (p.Ser308=)
c.337+60104C>T (n.337+60104C>T)
c.550C>T
c.1251C>T (p.Ser417=)
c.1170C>T (p.Ser390=)
c.1473C>T (p.Ser491=)
c.1080C>T (p.Ser360=)
c.1167C>T (p.Ser389=)
c.1326C>T (p.Ser442=)
c.1095C>T (p.Ser365=)
12g.66455515G>CCA385626203GRIP1c.1317C>G (p.Ser439Arg)
c.1248C>G (p.Ser416Arg)
c.1092C>G (p.Ser364Arg)
c.354C>G
c.874+7409C>G (n.874+7409C>G)
c.692C>G
c.924C>G (p.Ser308Arg)
c.337+60104C>G (n.337+60104C>G)
c.550C>G
c.1251C>G (p.Ser417Arg)
c.1170C>G (p.Ser390Arg)
c.1473C>G (p.Ser491Arg)
c.1080C>G (p.Ser360Arg)
c.1167C>G (p.Ser389Arg)
c.1326C>G (p.Ser442Arg)
c.1095C>G (p.Ser365Arg)
12g.66455515G>TCA385626205GRIP1c.1317C>A (p.Ser439Arg)
c.1248C>A (p.Ser416Arg)
c.1092C>A (p.Ser364Arg)
c.354C>A
c.874+7409C>A (n.874+7409C>A)
c.692C>A
c.924C>A (p.Ser308Arg)
c.337+60104C>A (n.337+60104C>A)
c.550C>A
c.1251C>A (p.Ser417Arg)
c.1170C>A (p.Ser390Arg)
c.1473C>A (p.Ser491Arg)
c.1080C>A (p.Ser360Arg)
c.1167C>A (p.Ser389Arg)
c.1326C>A (p.Ser442Arg)
c.1095C>A (p.Ser365Arg)
12g.66455516C>ACA385626206GRIP1c.1316G>T (p.Ser439Ile)
c.1247G>T (p.Ser416Ile)
c.1091G>T (p.Ser364Ile)
c.353G>T
c.874+7408G>T (n.874+7408G>T)
c.691G>T
c.923G>T (p.Ser308Ile)
c.337+60103G>T (n.337+60103G>T)
c.549G>T
c.1250G>T (p.Ser417Ile)
c.1169G>T (p.Ser390Ile)
c.1472G>T (p.Ser491Ile)
c.1079G>T (p.Ser360Ile)
c.1166G>T (p.Ser389Ile)
c.1325G>T (p.Ser442Ile)
c.1094G>T (p.Ser365Ile)
12g.66455516C=CA2043057218GRIP1c.1316G= (p.Ser439=)
c.1247G= (p.Ser416=)
c.1091G= (p.Ser364=)
c.353G=
c.874+7408G= (n.874+7408G=)
c.691G=
c.923G= (p.Ser308=)
c.337+60103G= (n.337+60103G=)
c.549G=
c.1250G= (p.Ser417=)
c.1169G= (p.Ser390=)
c.1472G= (p.Ser491=)
c.1079G= (p.Ser360=)
c.1166G= (p.Ser389=)
c.1325G= (p.Ser442=)
c.1094G= (p.Ser365=)
12g.66455516C>GCA385626207GRIP1c.1316G>C (p.Ser439Thr)
c.1247G>C (p.Ser416Thr)
c.1091G>C (p.Ser364Thr)
c.353G>C
c.874+7408G>C (n.874+7408G>C)
c.691G>C
c.923G>C (p.Ser308Thr)
c.337+60103G>C (n.337+60103G>C)
c.549G>C
c.1250G>C (p.Ser417Thr)
c.1169G>C (p.Ser390Thr)
c.1472G>C (p.Ser491Thr)
c.1079G>C (p.Ser360Thr)
c.1166G>C (p.Ser389Thr)
c.1325G>C (p.Ser442Thr)
c.1094G>C (p.Ser365Thr)
12g.66455516C>TCA6674429GRIP1c.1316G>A (p.Ser439Asn)
c.1247G>A (p.Ser416Asn)
c.1091G>A (p.Ser364Asn)
c.353G>A
c.874+7408G>A (n.874+7408G>A)
c.691G>A
c.923G>A (p.Ser308Asn)
c.337+60103G>A (n.337+60103G>A)
c.549G>A
c.1250G>A (p.Ser417Asn)
c.1169G>A (p.Ser390Asn)
c.1472G>A (p.Ser491Asn)
c.1079G>A (p.Ser360Asn)
c.1166G>A (p.Ser389Asn)
c.1325G>A (p.Ser442Asn)
c.1094G>A (p.Ser365Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455517T>ACA385626210GRIP1c.1315A>T (p.Ser439Cys)
c.1246A>T (p.Ser416Cys)
c.1090A>T (p.Ser364Cys)
c.352A>T
c.874+7407A>T (n.874+7407A>T)
c.690A>T
c.922A>T (p.Ser308Cys)
c.337+60102A>T (n.337+60102A>T)
c.548A>T
c.1249A>T (p.Ser417Cys)
c.1168A>T (p.Ser390Cys)
c.1471A>T (p.Ser491Cys)
c.1078A>T (p.Ser360Cys)
c.1165A>T (p.Ser389Cys)
c.1324A>T (p.Ser442Cys)
c.1093A>T (p.Ser365Cys)
12g.66455517T>CCA6674430GRIP1c.1315A>G (p.Ser439Gly)
c.1246A>G (p.Ser416Gly)
c.1090A>G (p.Ser364Gly)
c.352A>G
c.874+7407A>G (n.874+7407A>G)
c.690A>G
c.922A>G (p.Ser308Gly)
c.337+60102A>G (n.337+60102A>G)
c.548A>G
c.1249A>G (p.Ser417Gly)
c.1168A>G (p.Ser390Gly)
c.1471A>G (p.Ser491Gly)
c.1078A>G (p.Ser360Gly)
c.1165A>G (p.Ser389Gly)
c.1324A>G (p.Ser442Gly)
c.1093A>G (p.Ser365Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.66455517T>GCA385626212GRIP1c.1315A>C (p.Ser439Arg)
c.1246A>C (p.Ser416Arg)
c.1090A>C (p.Ser364Arg)
c.352A>C
c.874+7407A>C (n.874+7407A>C)
c.690A>C
c.922A>C (p.Ser308Arg)
c.337+60102A>C (n.337+60102A>C)
c.548A>C
c.1249A>C (p.Ser417Arg)
c.1168A>C (p.Ser390Arg)
c.1471A>C (p.Ser491Arg)
c.1078A>C (p.Ser360Arg)
c.1165A>C (p.Ser389Arg)
c.1324A>C (p.Ser442Arg)
c.1093A>C (p.Ser365Arg)
12g.66455517T=CA2043057219GRIP1c.1315A= (p.Ser439=)
c.1246A= (p.Ser416=)
c.1090A= (p.Ser364=)
c.352A=
c.874+7407A= (n.874+7407A=)
c.690A=
c.922A= (p.Ser308=)
c.337+60102A= (n.337+60102A=)
c.548A=
c.1249A= (p.Ser417=)
c.1168A= (p.Ser390=)
c.1471A= (p.Ser491=)
c.1078A= (p.Ser360=)
c.1165A= (p.Ser389=)
c.1324A= (p.Ser442=)
c.1093A= (p.Ser365=)
12g.66455518G>ACA6674431GRIP1c.1314C>T (p.Tyr438=)
c.1245C>T (p.Tyr415=)
c.1089C>T (p.Tyr363=)
c.351C>T
c.874+7406C>T (n.874+7406C>T)
c.689C>T
c.921C>T (p.Tyr307=)
c.337+60101C>T (n.337+60101C>T)
c.547C>T
c.1248C>T (p.Tyr416=)
c.1167C>T (p.Tyr389=)
c.1470C>T (p.Tyr490=)
c.1077C>T (p.Tyr359=)
c.1164C>T (p.Tyr388=)
c.1323C>T (p.Tyr441=)
c.1092C>T (p.Tyr364=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.66455518G>CCA385626215GRIP1c.1314C>G (p.Tyr438Ter)
c.1245C>G (p.Tyr415Ter)
c.1089C>G (p.Tyr363Ter)
c.351C>G
c.874+7406C>G (n.874+7406C>G)
c.689C>G
c.921C>G (p.Tyr307Ter)
c.337+60101C>G (n.337+60101C>G)
c.547C>G
c.1248C>G (p.Tyr416Ter)
c.1167C>G (p.Tyr389Ter)
c.1470C>G (p.Tyr490Ter)
c.1077C>G (p.Tyr359Ter)
c.1164C>G (p.Tyr388Ter)
c.1323C>G (p.Tyr441Ter)
c.1092C>G (p.Tyr364Ter)
12g.66455518G=CA2043057220GRIP1c.1314C= (p.Tyr438=)
c.1245C= (p.Tyr415=)
c.1089C= (p.Tyr363=)
c.351C=
c.874+7406C= (n.874+7406C=)
c.689C=
c.921C= (p.Tyr307=)
c.337+60101C= (n.337+60101C=)
c.547C=
c.1248C= (p.Tyr416=)
c.1167C= (p.Tyr389=)
c.1470C= (p.Tyr490=)
c.1077C= (p.Tyr359=)
c.1164C= (p.Tyr388=)
c.1323C= (p.Tyr441=)
c.1092C= (p.Tyr364=)
12g.66455518G>TCA385626218GRIP1c.1314C>A (p.Tyr438Ter)
c.1245C>A (p.Tyr415Ter)
c.1089C>A (p.Tyr363Ter)
c.351C>A
c.874+7406C>A (n.874+7406C>A)
c.689C>A
c.921C>A (p.Tyr307Ter)
c.337+60101C>A (n.337+60101C>A)
c.547C>A
c.1248C>A (p.Tyr416Ter)
c.1167C>A (p.Tyr389Ter)
c.1470C>A (p.Tyr490Ter)
c.1077C>A (p.Tyr359Ter)
c.1164C>A (p.Tyr388Ter)
c.1323C>A (p.Tyr441Ter)
c.1092C>A (p.Tyr364Ter)
12g.66455519T>ACA385626222GRIP1c.1313A>T (p.Tyr438Phe)
c.1244A>T (p.Tyr415Phe)
c.1088A>T (p.Tyr363Phe)
c.350A>T
c.874+7405A>T (n.874+7405A>T)
c.688A>T
c.920A>T (p.Tyr307Phe)
c.337+60100A>T (n.337+60100A>T)
c.546A>T
c.1247A>T (p.Tyr416Phe)
c.1166A>T (p.Tyr389Phe)
c.1469A>T (p.Tyr490Phe)
c.1076A>T (p.Tyr359Phe)
c.1163A>T (p.Tyr388Phe)
c.1322A>T (p.Tyr441Phe)
c.1091A>T (p.Tyr364Phe)
12g.66455519T>CCA385626223GRIP1c.1313A>G (p.Tyr438Cys)
c.1244A>G (p.Tyr415Cys)
c.1088A>G (p.Tyr363Cys)
c.350A>G
c.874+7405A>G (n.874+7405A>G)
c.688A>G
c.920A>G (p.Tyr307Cys)
c.337+60100A>G (n.337+60100A>G)
c.546A>G
c.1247A>G (p.Tyr416Cys)
c.1166A>G (p.Tyr389Cys)
c.1469A>G (p.Tyr490Cys)
c.1076A>G (p.Tyr359Cys)
c.1163A>G (p.Tyr388Cys)
c.1322A>G (p.Tyr441Cys)
c.1091A>G (p.Tyr364Cys)
 dbSNP gnomAD v3 gnomAD v4
12g.66455519T>GCA385626224GRIP1c.1313A>C (p.Tyr438Ser)
c.1244A>C (p.Tyr415Ser)
c.1088A>C (p.Tyr363Ser)
c.350A>C
c.874+7405A>C (n.874+7405A>C)
c.688A>C
c.920A>C (p.Tyr307Ser)
c.337+60100A>C (n.337+60100A>C)
c.546A>C
c.1247A>C (p.Tyr416Ser)
c.1166A>C (p.Tyr389Ser)
c.1469A>C (p.Tyr490Ser)
c.1076A>C (p.Tyr359Ser)
c.1163A>C (p.Tyr388Ser)
c.1322A>C (p.Tyr441Ser)
c.1091A>C (p.Tyr364Ser)
12g.66455519T=CA2043057221GRIP1c.1313A= (p.Tyr438=)
c.1244A= (p.Tyr415=)
c.1088A= (p.Tyr363=)
c.350A=
c.874+7405A= (n.874+7405A=)
c.688A=
c.920A= (p.Tyr307=)
c.337+60100A= (n.337+60100A=)
c.546A=
c.1247A= (p.Tyr416=)
c.1166A= (p.Tyr389=)
c.1469A= (p.Tyr490=)
c.1076A= (p.Tyr359=)
c.1163A= (p.Tyr388=)
c.1322A= (p.Tyr441=)
c.1091A= (p.Tyr364=)
12g.66455520A>CCA385626225GRIP1c.1312T>G (p.Tyr438Asp)
c.1243T>G (p.Tyr415Asp)
c.1087T>G (p.Tyr363Asp)
c.349T>G
c.874+7404T>G (n.874+7404T>G)
c.687T>G
c.919T>G (p.Tyr307Asp)
c.337+60099T>G (n.337+60099T>G)
c.545T>G
c.1246T>G (p.Tyr416Asp)
c.1165T>G (p.Tyr389Asp)
c.1468T>G (p.Tyr490Asp)
c.1075T>G (p.Tyr359Asp)
c.1162T>G (p.Tyr388Asp)
c.1321T>G (p.Tyr441Asp)
c.1090T>G (p.Tyr364Asp)
12g.66455520A>GCA385626226GRIP1c.1312T>C (p.Tyr438His)
c.1243T>C (p.Tyr415His)
c.1087T>C (p.Tyr363His)
c.349T>C
c.874+7404T>C (n.874+7404T>C)
c.687T>C
c.919T>C (p.Tyr307His)
c.337+60099T>C (n.337+60099T>C)
c.545T>C
c.1246T>C (p.Tyr416His)
c.1165T>C (p.Tyr389His)
c.1468T>C (p.Tyr490His)
c.1075T>C (p.Tyr359His)
c.1162T>C (p.Tyr388His)
c.1321T>C (p.Tyr441His)
c.1090T>C (p.Tyr364His)
12g.66455520A>TCA385626228GRIP1c.1312T>A (p.Tyr438Asn)
c.1243T>A (p.Tyr415Asn)
c.1087T>A (p.Tyr363Asn)
c.349T>A
c.874+7404T>A (n.874+7404T>A)
c.687T>A
c.919T>A (p.Tyr307Asn)
c.337+60099T>A (n.337+60099T>A)
c.545T>A
c.1246T>A (p.Tyr416Asn)
c.1165T>A (p.Tyr389Asn)
c.1468T>A (p.Tyr490Asn)
c.1075T>A (p.Tyr359Asn)
c.1162T>A (p.Tyr388Asn)
c.1321T>A (p.Tyr441Asn)
c.1090T>A (p.Tyr364Asn)
12g.66455521T>ACA480574038GRIP1c.1311A>T (p.Ala437=)
c.1242A>T (p.Ala414=)
c.1086A>T (p.Ala362=)
c.348A>T
c.874+7403A>T (n.874+7403A>T)
c.686A>T
c.918A>T (p.Ala306=)
c.337+60098A>T (n.337+60098A>T)
c.544A>T
c.1245A>T (p.Ala415=)
c.1164A>T (p.Ala388=)
c.1467A>T (p.Ala489=)
c.1074A>T (p.Ala358=)
c.1161A>T (p.Ala387=)
c.1320A>T (p.Ala440=)
c.1089A>T (p.Ala363=)
12g.66455521T>CCA480574034GRIP1c.1311A>G (p.Ala437=)
c.1242A>G (p.Ala414=)
c.1086A>G (p.Ala362=)
c.348A>G
c.874+7403A>G (n.874+7403A>G)
c.686A>G
c.918A>G (p.Ala306=)
c.337+60098A>G (n.337+60098A>G)
c.544A>G
c.1245A>G (p.Ala415=)
c.1164A>G (p.Ala388=)
c.1467A>G (p.Ala489=)
c.1074A>G (p.Ala358=)
c.1161A>G (p.Ala387=)
c.1320A>G (p.Ala440=)
c.1089A>G (p.Ala363=)
 dbSNP gnomAD v4
12g.66455521T>GCA480574036GRIP1c.1311A>C (p.Ala437=)
c.1242A>C (p.Ala414=)
c.1086A>C (p.Ala362=)
c.348A>C
c.874+7403A>C (n.874+7403A>C)
c.686A>C
c.918A>C (p.Ala306=)
c.337+60098A>C (n.337+60098A>C)
c.544A>C
c.1245A>C (p.Ala415=)
c.1164A>C (p.Ala388=)
c.1467A>C (p.Ala489=)
c.1074A>C (p.Ala358=)
c.1161A>C (p.Ala387=)
c.1320A>C (p.Ala440=)
c.1089A>C (p.Ala363=)
 ClinVar
12g.66455521T=CA2043057222GRIP1c.1311A= (p.Ala437=)
c.1242A= (p.Ala414=)
c.1086A= (p.Ala362=)
c.348A=
c.874+7403A= (n.874+7403A=)
c.686A=
c.918A= (p.Ala306=)
c.337+60098A= (n.337+60098A=)
c.544A=
c.1245A= (p.Ala415=)
c.1164A= (p.Ala388=)
c.1467A= (p.Ala489=)
c.1074A= (p.Ala358=)
c.1161A= (p.Ala387=)
c.1320A= (p.Ala440=)
c.1089A= (p.Ala363=)
12g.66455522G>ACA385626235GRIP1c.1310C>T (p.Ala437Val)
c.1241C>T (p.Ala414Val)
c.1085C>T (p.Ala362Val)
c.347C>T
c.874+7402C>T (n.874+7402C>T)
c.685C>T
c.917C>T (p.Ala306Val)
c.337+60097C>T (n.337+60097C>T)
c.543C>T
c.1244C>T (p.Ala415Val)
c.1163C>T (p.Ala388Val)
c.1466C>T (p.Ala489Val)
c.1073C>T (p.Ala358Val)
c.1160C>T (p.Ala387Val)
c.1319C>T (p.Ala440Val)
c.1088C>T (p.Ala363Val)
12g.66455522G>CCA385626238GRIP1c.1310C>G (p.Ala437Gly)
c.1241C>G (p.Ala414Gly)
c.1085C>G (p.Ala362Gly)
c.347C>G
c.874+7402C>G (n.874+7402C>G)
c.685C>G
c.917C>G (p.Ala306Gly)
c.337+60097C>G (n.337+60097C>G)
c.543C>G
c.1244C>G (p.Ala415Gly)
c.1163C>G (p.Ala388Gly)
c.1466C>G (p.Ala489Gly)
c.1073C>G (p.Ala358Gly)
c.1160C>G (p.Ala387Gly)
c.1319C>G (p.Ala440Gly)
c.1088C>G (p.Ala363Gly)
12g.66455522G>TCA385626232GRIP1c.1310C>A (p.Ala437Glu)
c.1241C>A (p.Ala414Glu)
c.1085C>A (p.Ala362Glu)
c.347C>A
c.874+7402C>A (n.874+7402C>A)
c.685C>A
c.917C>A (p.Ala306Glu)
c.337+60097C>A (n.337+60097C>A)
c.543C>A
c.1244C>A (p.Ala415Glu)
c.1163C>A (p.Ala388Glu)
c.1466C>A (p.Ala489Glu)
c.1073C>A (p.Ala358Glu)
c.1160C>A (p.Ala387Glu)
c.1319C>A (p.Ala440Glu)
c.1088C>A (p.Ala363Glu)
12g.66455523C>ACA385626240GRIP1c.1309G>T (p.Ala437Ser)
c.1240G>T (p.Ala414Ser)
c.1084G>T (p.Ala362Ser)
c.346G>T
c.874+7401G>T (n.874+7401G>T)
c.684G>T
c.916G>T (p.Ala306Ser)
c.337+60096G>T (n.337+60096G>T)
c.542G>T
c.1243G>T (p.Ala415Ser)
c.1162G>T (p.Ala388Ser)
c.1465G>T (p.Ala489Ser)
c.1072G>T (p.Ala358Ser)
c.1159G>T (p.Ala387Ser)
c.1318G>T (p.Ala440Ser)
c.1087G>T (p.Ala363Ser)
12g.66455523C=CA2043057223GRIP1c.1309G= (p.Ala437=)
c.1240G= (p.Ala414=)
c.1084G= (p.Ala362=)
c.346G=
c.874+7401G= (n.874+7401G=)
c.684G=
c.916G= (p.Ala306=)
c.337+60096G= (n.337+60096G=)
c.542G=
c.1243G= (p.Ala415=)
c.1162G= (p.Ala388=)
c.1465G= (p.Ala489=)
c.1072G= (p.Ala358=)
c.1159G= (p.Ala387=)
c.1318G= (p.Ala440=)
c.1087G= (p.Ala363=)
12g.66455523C>GCA385626242GRIP1c.1309G>C (p.Ala437Pro)
c.1240G>C (p.Ala414Pro)
c.1084G>C (p.Ala362Pro)
c.346G>C
c.874+7401G>C (n.874+7401G>C)
c.684G>C
c.916G>C (p.Ala306Pro)
c.337+60096G>C (n.337+60096G>C)
c.542G>C
c.1243G>C (p.Ala415Pro)
c.1162G>C (p.Ala388Pro)
c.1465G>C (p.Ala489Pro)
c.1072G>C (p.Ala358Pro)
c.1159G>C (p.Ala387Pro)
c.1318G>C (p.Ala440Pro)
c.1087G>C (p.Ala363Pro)
12g.66455523C>TCA385626244GRIP1c.1309G>A (p.Ala437Thr)
c.1240G>A (p.Ala414Thr)
c.1084G>A (p.Ala362Thr)
c.346G>A
c.874+7401G>A (n.874+7401G>A)
c.684G>A
c.916G>A (p.Ala306Thr)
c.337+60096G>A (n.337+60096G>A)
c.542G>A
c.1243G>A (p.Ala415Thr)
c.1162G>A (p.Ala388Thr)
c.1465G>A (p.Ala489Thr)
c.1072G>A (p.Ala358Thr)
c.1159G>A (p.Ala387Thr)
c.1318G>A (p.Ala440Thr)
c.1087G>A (p.Ala363Thr)
 dbSNP gnomAD v3 gnomAD v4
12g.66455524A>CCA385626251GRIP1c.1308T>G (p.Ser436Arg)
c.1239T>G (p.Ser413Arg)
c.1083T>G (p.Ser361Arg)
c.345T>G
c.874+7400T>G (n.874+7400T>G)
c.683T>G
c.915T>G (p.Ser305Arg)
c.337+60095T>G (n.337+60095T>G)
c.541T>G
c.1242T>G (p.Ser414Arg)
c.1161T>G (p.Ser387Arg)
c.1464T>G (p.Ser488Arg)
c.1071T>G (p.Ser357Arg)
c.1158T>G (p.Ser386Arg)
c.1317T>G (p.Ser439Arg)
c.1086T>G (p.Ser362Arg)
12g.66455524A>GCA480574042GRIP1c.1308T>C (p.Ser436=)
c.1239T>C (p.Ser413=)
c.1083T>C (p.Ser361=)
c.345T>C
c.874+7400T>C (n.874+7400T>C)
c.683T>C
c.915T>C (p.Ser305=)
c.337+60095T>C (n.337+60095T>C)
c.541T>C
c.1242T>C (p.Ser414=)
c.1161T>C (p.Ser387=)
c.1464T>C (p.Ser488=)
c.1071T>C (p.Ser357=)
c.1158T>C (p.Ser386=)
c.1317T>C (p.Ser439=)
c.1086T>C (p.Ser362=)
 ClinVar gnomAD v4
12g.66455524A>TCA385626254GRIP1c.1308T>A (p.Ser436Arg)
c.1239T>A (p.Ser413Arg)
c.1083T>A (p.Ser361Arg)
c.345T>A
c.874+7400T>A (n.874+7400T>A)
c.683T>A
c.915T>A (p.Ser305Arg)
c.337+60095T>A (n.337+60095T>A)
c.541T>A
c.1242T>A (p.Ser414Arg)
c.1161T>A (p.Ser387Arg)
c.1464T>A (p.Ser488Arg)
c.1071T>A (p.Ser357Arg)
c.1158T>A (p.Ser386Arg)
c.1317T>A (p.Ser439Arg)
c.1086T>A (p.Ser362Arg)
12g.66455525C>ACA385626263GRIP1c.1307G>T (p.Ser436Ile)
c.1238G>T (p.Ser413Ile)
c.1082G>T (p.Ser361Ile)
c.344G>T
c.874+7399G>T (n.874+7399G>T)
c.682G>T
c.914G>T (p.Ser305Ile)
c.337+60094G>T (n.337+60094G>T)
c.540G>T
c.1241G>T (p.Ser414Ile)
c.1160G>T (p.Ser387Ile)
c.1463G>T (p.Ser488Ile)
c.1070G>T (p.Ser357Ile)
c.1157G>T (p.Ser386Ile)
c.1316G>T (p.Ser439Ile)
c.1085G>T (p.Ser362Ile)
12g.66455525C>GCA385626258GRIP1c.1307G>C (p.Ser436Thr)
c.1238G>C (p.Ser413Thr)
c.1082G>C (p.Ser361Thr)
c.344G>C
c.874+7399G>C (n.874+7399G>C)
c.682G>C
c.914G>C (p.Ser305Thr)
c.337+60094G>C (n.337+60094G>C)
c.540G>C
c.1241G>C (p.Ser414Thr)
c.1160G>C (p.Ser387Thr)
c.1463G>C (p.Ser488Thr)
c.1070G>C (p.Ser357Thr)
c.1157G>C (p.Ser386Thr)
c.1316G>C (p.Ser439Thr)
c.1085G>C (p.Ser362Thr)
12g.66455525C>TCA385626262GRIP1c.1307G>A (p.Ser436Asn)
c.1238G>A (p.Ser413Asn)
c.1082G>A (p.Ser361Asn)
c.344G>A
c.874+7399G>A (n.874+7399G>A)
c.682G>A
c.914G>A (p.Ser305Asn)
c.337+60094G>A (n.337+60094G>A)
c.540G>A
c.1241G>A (p.Ser414Asn)
c.1160G>A (p.Ser387Asn)
c.1463G>A (p.Ser488Asn)
c.1070G>A (p.Ser357Asn)
c.1157G>A (p.Ser386Asn)
c.1316G>A (p.Ser439Asn)
c.1085G>A (p.Ser362Asn)
 gnomAD v4
12g.66455526T>ACA385626265GRIP1c.1306A>T (p.Ser436Cys)
c.1237A>T (p.Ser413Cys)
c.1081A>T (p.Ser361Cys)
c.343A>T
c.874+7398A>T (n.874+7398A>T)
c.681A>T
c.913A>T (p.Ser305Cys)
c.337+60093A>T (n.337+60093A>T)
c.539A>T
c.1240A>T (p.Ser414Cys)
c.1159A>T (p.Ser387Cys)
c.1462A>T (p.Ser488Cys)
c.1069A>T (p.Ser357Cys)
c.1156A>T (p.Ser386Cys)
c.1315A>T (p.Ser439Cys)
c.1084A>T (p.Ser362Cys)
12g.66455526T>CCA385626269GRIP1c.1306A>G (p.Ser436Gly)
c.1237A>G (p.Ser413Gly)
c.1081A>G (p.Ser361Gly)
c.343A>G
c.874+7398A>G (n.874+7398A>G)
c.681A>G
c.913A>G (p.Ser305Gly)
c.337+60093A>G (n.337+60093A>G)
c.539A>G
c.1240A>G (p.Ser414Gly)
c.1159A>G (p.Ser387Gly)
c.1462A>G (p.Ser488Gly)
c.1069A>G (p.Ser357Gly)
c.1156A>G (p.Ser386Gly)
c.1315A>G (p.Ser439Gly)
c.1084A>G (p.Ser362Gly)
12g.66455526T>GCA385626272GRIP1c.1306A>C (p.Ser436Arg)
c.1237A>C (p.Ser413Arg)
c.1081A>C (p.Ser361Arg)
c.343A>C
c.874+7398A>C (n.874+7398A>C)
c.681A>C
c.913A>C (p.Ser305Arg)
c.337+60093A>C (n.337+60093A>C)
c.539A>C
c.1240A>C (p.Ser414Arg)
c.1159A>C (p.Ser387Arg)
c.1462A>C (p.Ser488Arg)
c.1069A>C (p.Ser357Arg)
c.1156A>C (p.Ser386Arg)
c.1315A>C (p.Ser439Arg)
c.1084A>C (p.Ser362Arg)
12g.66455527C>ACA385626275GRIP1c.1305G>T (p.Met435Ile)
c.1236G>T (p.Met412Ile)
c.1080G>T (p.Met360Ile)
c.342G>T
c.874+7397G>T (n.874+7397G>T)
c.680G>T
c.912G>T (p.Met304Ile)
c.337+60092G>T (n.337+60092G>T)
c.538G>T
c.1239G>T (p.Met413Ile)
c.1158G>T (p.Met386Ile)
c.1461G>T (p.Met487Ile)
c.1068G>T (p.Met356Ile)
c.1155G>T (p.Met385Ile)
c.1314G>T (p.Met438Ile)
c.1083G>T (p.Met361Ile)
12g.66455527C>GCA385626276GRIP1c.1305G>C (p.Met435Ile)
c.1236G>C (p.Met412Ile)
c.1080G>C (p.Met360Ile)
c.342G>C
c.874+7397G>C (n.874+7397G>C)
c.680G>C
c.912G>C (p.Met304Ile)
c.337+60092G>C (n.337+60092G>C)
c.538G>C
c.1239G>C (p.Met413Ile)
c.1158G>C (p.Met386Ile)
c.1461G>C (p.Met487Ile)
c.1068G>C (p.Met356Ile)
c.1155G>C (p.Met385Ile)
c.1314G>C (p.Met438Ile)
c.1083G>C (p.Met361Ile)
12g.66455527C>TCA385626277GRIP1c.1305G>A (p.Met435Ile)
c.1236G>A (p.Met412Ile)
c.1080G>A (p.Met360Ile)
c.342G>A
c.874+7397G>A (n.874+7397G>A)
c.680G>A
c.912G>A (p.Met304Ile)
c.337+60092G>A (n.337+60092G>A)
c.538G>A
c.1239G>A (p.Met413Ile)
c.1158G>A (p.Met386Ile)
c.1461G>A (p.Met487Ile)
c.1068G>A (p.Met356Ile)
c.1155G>A (p.Met385Ile)
c.1314G>A (p.Met438Ile)
c.1083G>A (p.Met361Ile)
 gnomAD v4
12g.66455528A=CA2043057224GRIP1c.1304T= (p.Met435=)
c.1235T= (p.Met412=)
c.1079T= (p.Met360=)
c.341T=
c.874+7396T= (n.874+7396T=)
c.679T=
c.911T= (p.Met304=)
c.337+60091T= (n.337+60091T=)
c.537T=
c.1238T= (p.Met413=)
c.1157T= (p.Met386=)
c.1460T= (p.Met487=)
c.1067T= (p.Met356=)
c.1154T= (p.Met385=)
c.1313T= (p.Met438=)
c.1082T= (p.Met361=)
12g.66455528A>CCA385626279GRIP1c.1304T>G (p.Met435Arg)
c.1235T>G (p.Met412Arg)
c.1079T>G (p.Met360Arg)
c.341T>G
c.874+7396T>G (n.874+7396T>G)
c.679T>G
c.911T>G (p.Met304Arg)
c.337+60091T>G (n.337+60091T>G)
c.537T>G
c.1238T>G (p.Met413Arg)
c.1157T>G (p.Met386Arg)
c.1460T>G (p.Met487Arg)
c.1067T>G (p.Met356Arg)
c.1154T>G (p.Met385Arg)
c.1313T>G (p.Met438Arg)
c.1082T>G (p.Met361Arg)
12g.66455528A>GCA6674432GRIP1c.1304T>C (p.Met435Thr)
c.1235T>C (p.Met412Thr)
c.1079T>C (p.Met360Thr)
c.341T>C
c.874+7396T>C (n.874+7396T>C)
c.679T>C
c.911T>C (p.Met304Thr)
c.337+60091T>C (n.337+60091T>C)
c.537T>C
c.1238T>C (p.Met413Thr)
c.1157T>C (p.Met386Thr)
c.1460T>C (p.Met487Thr)
c.1067T>C (p.Met356Thr)
c.1154T>C (p.Met385Thr)
c.1313T>C (p.Met438Thr)
c.1082T>C (p.Met361Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455528A>TCA385626278GRIP1c.1304T>A (p.Met435Lys)
c.1235T>A (p.Met412Lys)
c.1079T>A (p.Met360Lys)
c.341T>A
c.874+7396T>A (n.874+7396T>A)
c.679T>A
c.911T>A (p.Met304Lys)
c.337+60091T>A (n.337+60091T>A)
c.537T>A
c.1238T>A (p.Met413Lys)
c.1157T>A (p.Met386Lys)
c.1460T>A (p.Met487Lys)
c.1067T>A (p.Met356Lys)
c.1154T>A (p.Met385Lys)
c.1313T>A (p.Met438Lys)
c.1082T>A (p.Met361Lys)
12g.66455529T>ACA385626283GRIP1c.1303A>T (p.Met435Leu)
c.1234A>T (p.Met412Leu)
c.1078A>T (p.Met360Leu)
c.340A>T
c.874+7395A>T (n.874+7395A>T)
c.678A>T
c.910A>T (p.Met304Leu)
c.337+60090A>T (n.337+60090A>T)
c.536A>T
c.1237A>T (p.Met413Leu)
c.1156A>T (p.Met386Leu)
c.1459A>T (p.Met487Leu)
c.1066A>T (p.Met356Leu)
c.1153A>T (p.Met385Leu)
c.1312A>T (p.Met438Leu)
c.1081A>T (p.Met361Leu)
12g.66455529T>CCA385626281GRIP1c.1303A>G (p.Met435Val)
c.1234A>G (p.Met412Val)
c.1078A>G (p.Met360Val)
c.340A>G
c.874+7395A>G (n.874+7395A>G)
c.678A>G
c.910A>G (p.Met304Val)
c.337+60090A>G (n.337+60090A>G)
c.536A>G
c.1237A>G (p.Met413Val)
c.1156A>G (p.Met386Val)
c.1459A>G (p.Met487Val)
c.1066A>G (p.Met356Val)
c.1153A>G (p.Met385Val)
c.1312A>G (p.Met438Val)
c.1081A>G (p.Met361Val)
12g.66455529T>GCA385626285GRIP1c.1303A>C (p.Met435Leu)
c.1234A>C (p.Met412Leu)
c.1078A>C (p.Met360Leu)
c.340A>C
c.874+7395A>C (n.874+7395A>C)
c.678A>C
c.910A>C (p.Met304Leu)
c.337+60090A>C (n.337+60090A>C)
c.536A>C
c.1237A>C (p.Met413Leu)
c.1156A>C (p.Met386Leu)
c.1459A>C (p.Met487Leu)
c.1066A>C (p.Met356Leu)
c.1153A>C (p.Met385Leu)
c.1312A>C (p.Met438Leu)
c.1081A>C (p.Met361Leu)
12g.66455530G>ACA480574051GRIP1c.1302C>T (p.Ser434=)
c.1233C>T (p.Ser411=)
c.1077C>T (p.Ser359=)
c.339C>T
c.874+7394C>T (n.874+7394C>T)
c.677C>T
c.909C>T (p.Ser303=)
c.337+60089C>T (n.337+60089C>T)
c.535C>T
c.1236C>T (p.Ser412=)
c.1155C>T (p.Ser385=)
c.1458C>T (p.Ser486=)
c.1065C>T (p.Ser355=)
c.1152C>T (p.Ser384=)
c.1311C>T (p.Ser437=)
c.1080C>T (p.Ser360=)
 COSMIC COSMIC
12g.66455530G>CCA480574053GRIP1c.1302C>G (p.Ser434=)
c.1233C>G (p.Ser411=)
c.1077C>G (p.Ser359=)
c.339C>G
c.874+7394C>G (n.874+7394C>G)
c.677C>G
c.909C>G (p.Ser303=)
c.337+60089C>G (n.337+60089C>G)
c.535C>G
c.1236C>G (p.Ser412=)
c.1155C>G (p.Ser385=)
c.1458C>G (p.Ser486=)
c.1065C>G (p.Ser355=)
c.1152C>G (p.Ser384=)
c.1311C>G (p.Ser437=)
c.1080C>G (p.Ser360=)
12g.66455530G>TCA480574054GRIP1c.1302C>A (p.Ser434=)
c.1233C>A (p.Ser411=)
c.1077C>A (p.Ser359=)
c.339C>A
c.874+7394C>A (n.874+7394C>A)
c.677C>A
c.909C>A (p.Ser303=)
c.337+60089C>A (n.337+60089C>A)
c.535C>A
c.1236C>A (p.Ser412=)
c.1155C>A (p.Ser385=)
c.1458C>A (p.Ser486=)
c.1065C>A (p.Ser355=)
c.1152C>A (p.Ser384=)
c.1311C>A (p.Ser437=)
c.1080C>A (p.Ser360=)
12g.66455531G>ACA385626288GRIP1c.1301C>T (p.Ser434Phe)
c.1232C>T (p.Ser411Phe)
c.1076C>T (p.Ser359Phe)
c.338C>T
c.874+7393C>T (n.874+7393C>T)
c.676C>T
c.908C>T (p.Ser303Phe)
c.337+60088C>T (n.337+60088C>T)
c.534C>T
c.1235C>T (p.Ser412Phe)
c.1154C>T (p.Ser385Phe)
c.1457C>T (p.Ser486Phe)
c.1064C>T (p.Ser355Phe)
c.1151C>T (p.Ser384Phe)
c.1310C>T (p.Ser437Phe)
c.1079C>T (p.Ser360Phe)
12g.66455531G>CCA6674433GRIP1c.1301C>G (p.Ser434Cys)
c.1232C>G (p.Ser411Cys)
c.1076C>G (p.Ser359Cys)
c.338C>G
c.874+7393C>G (n.874+7393C>G)
c.676C>G
c.908C>G (p.Ser303Cys)
c.337+60088C>G (n.337+60088C>G)
c.534C>G
c.1235C>G (p.Ser412Cys)
c.1154C>G (p.Ser385Cys)
c.1457C>G (p.Ser486Cys)
c.1064C>G (p.Ser355Cys)
c.1151C>G (p.Ser384Cys)
c.1310C>G (p.Ser437Cys)
c.1079C>G (p.Ser360Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.66455531G=CA2043057225GRIP1c.1301C= (p.Ser434=)
c.1232C= (p.Ser411=)
c.1076C= (p.Ser359=)
c.338C=
c.874+7393C= (n.874+7393C=)
c.676C=
c.908C= (p.Ser303=)
c.337+60088C= (n.337+60088C=)
c.534C=
c.1235C= (p.Ser412=)
c.1154C= (p.Ser385=)
c.1457C= (p.Ser486=)
c.1064C= (p.Ser355=)
c.1151C= (p.Ser384=)
c.1310C= (p.Ser437=)
c.1079C= (p.Ser360=)
12g.66455531G>TCA385626289GRIP1c.1301C>A (p.Ser434Tyr)
c.1232C>A (p.Ser411Tyr)
c.1076C>A (p.Ser359Tyr)
c.338C>A
c.874+7393C>A (n.874+7393C>A)
c.676C>A
c.908C>A (p.Ser303Tyr)
c.337+60088C>A (n.337+60088C>A)
c.534C>A
c.1235C>A (p.Ser412Tyr)
c.1154C>A (p.Ser385Tyr)
c.1457C>A (p.Ser486Tyr)
c.1064C>A (p.Ser355Tyr)
c.1151C>A (p.Ser384Tyr)
c.1310C>A (p.Ser437Tyr)
c.1079C>A (p.Ser360Tyr)
12g.66455532A>CCA385626293GRIP1c.1300T>G (p.Ser434Ala)
c.1231T>G (p.Ser411Ala)
c.1075T>G (p.Ser359Ala)
c.337T>G
c.874+7392T>G (n.874+7392T>G)
c.675T>G
c.907T>G (p.Ser303Ala)
c.337+60087T>G (n.337+60087T>G)
c.533T>G
c.1234T>G (p.Ser412Ala)
c.1153T>G (p.Ser385Ala)
c.1456T>G (p.Ser486Ala)
c.1063T>G (p.Ser355Ala)
c.1150T>G (p.Ser384Ala)
c.1309T>G (p.Ser437Ala)
c.1078T>G (p.Ser360Ala)
12g.66455532A>GCA385626294GRIP1c.1300T>C (p.Ser434Pro)
c.1231T>C (p.Ser411Pro)
c.1075T>C (p.Ser359Pro)
c.337T>C
c.874+7392T>C (n.874+7392T>C)
c.675T>C
c.907T>C (p.Ser303Pro)
c.337+60087T>C (n.337+60087T>C)
c.533T>C
c.1234T>C (p.Ser412Pro)
c.1153T>C (p.Ser385Pro)
c.1456T>C (p.Ser486Pro)
c.1063T>C (p.Ser355Pro)
c.1150T>C (p.Ser384Pro)
c.1309T>C (p.Ser437Pro)
c.1078T>C (p.Ser360Pro)
12g.66455532A>TCA385626295GRIP1c.1300T>A (p.Ser434Thr)
c.1231T>A (p.Ser411Thr)
c.1075T>A (p.Ser359Thr)
c.337T>A
c.874+7392T>A (n.874+7392T>A)
c.675T>A
c.907T>A (p.Ser303Thr)
c.337+60087T>A (n.337+60087T>A)
c.533T>A
c.1234T>A (p.Ser412Thr)
c.1153T>A (p.Ser385Thr)
c.1456T>A (p.Ser486Thr)
c.1063T>A (p.Ser355Thr)
c.1150T>A (p.Ser384Thr)
c.1309T>A (p.Ser437Thr)
c.1078T>A (p.Ser360Thr)
12g.66455533G>ACA480574059GRIP1c.1299C>T (p.Thr433=)
c.1230C>T (p.Thr410=)
c.1074C>T (p.Thr358=)
c.336C>T
c.874+7391C>T (n.874+7391C>T)
c.674C>T
c.906C>T (p.Thr302=)
c.337+60086C>T (n.337+60086C>T)
c.532C>T
c.1233C>T (p.Thr411=)
c.1152C>T (p.Thr384=)
c.1455C>T (p.Thr485=)
c.1062C>T (p.Thr354=)
c.1149C>T (p.Thr383=)
c.1308C>T (p.Thr436=)
c.1077C>T (p.Thr359=)
 gnomAD v4
12g.66455533G>CCA480574062GRIP1c.1299C>G (p.Thr433=)
c.1230C>G (p.Thr410=)
c.1074C>G (p.Thr358=)
c.336C>G
c.874+7391C>G (n.874+7391C>G)
c.674C>G
c.906C>G (p.Thr302=)
c.337+60086C>G (n.337+60086C>G)
c.532C>G
c.1233C>G (p.Thr411=)
c.1152C>G (p.Thr384=)
c.1455C>G (p.Thr485=)
c.1062C>G (p.Thr354=)
c.1149C>G (p.Thr383=)
c.1308C>G (p.Thr436=)
c.1077C>G (p.Thr359=)
12g.66455533G>TCA480574064GRIP1c.1299C>A (p.Thr433=)
c.1230C>A (p.Thr410=)
c.1074C>A (p.Thr358=)
c.336C>A
c.874+7391C>A (n.874+7391C>A)
c.674C>A
c.906C>A (p.Thr302=)
c.337+60086C>A (n.337+60086C>A)
c.532C>A
c.1233C>A (p.Thr411=)
c.1152C>A (p.Thr384=)
c.1455C>A (p.Thr485=)
c.1062C>A (p.Thr354=)
c.1149C>A (p.Thr383=)
c.1308C>A (p.Thr436=)
c.1077C>A (p.Thr359=)
12g.66455534G>ACA385626296GRIP1c.1298C>T (p.Thr433Ile)
c.1229C>T (p.Thr410Ile)
c.1073C>T (p.Thr358Ile)
c.335C>T
c.874+7390C>T (n.874+7390C>T)
c.673C>T
c.905C>T (p.Thr302Ile)
c.337+60085C>T (n.337+60085C>T)
c.531C>T
c.1232C>T (p.Thr411Ile)
c.1151C>T (p.Thr384Ile)
c.1454C>T (p.Thr485Ile)
c.1061C>T (p.Thr354Ile)
c.1148C>T (p.Thr383Ile)
c.1307C>T (p.Thr436Ile)
c.1076C>T (p.Thr359Ile)
12g.66455534G>CCA385626299GRIP1c.1298C>G (p.Thr433Ser)
c.1229C>G (p.Thr410Ser)
c.1073C>G (p.Thr358Ser)
c.335C>G
c.874+7390C>G (n.874+7390C>G)
c.673C>G
c.905C>G (p.Thr302Ser)
c.337+60085C>G (n.337+60085C>G)
c.531C>G
c.1232C>G (p.Thr411Ser)
c.1151C>G (p.Thr384Ser)
c.1454C>G (p.Thr485Ser)
c.1061C>G (p.Thr354Ser)
c.1148C>G (p.Thr383Ser)
c.1307C>G (p.Thr436Ser)
c.1076C>G (p.Thr359Ser)
12g.66455534G>TCA385626305GRIP1c.1298C>A (p.Thr433Asn)
c.1229C>A (p.Thr410Asn)
c.1073C>A (p.Thr358Asn)
c.335C>A
c.874+7390C>A (n.874+7390C>A)
c.673C>A
c.905C>A (p.Thr302Asn)
c.337+60085C>A (n.337+60085C>A)
c.531C>A
c.1232C>A (p.Thr411Asn)
c.1151C>A (p.Thr384Asn)
c.1454C>A (p.Thr485Asn)
c.1061C>A (p.Thr354Asn)
c.1148C>A (p.Thr383Asn)
c.1307C>A (p.Thr436Asn)
c.1076C>A (p.Thr359Asn)
12g.66455535T>ACA385626308GRIP1c.1297A>T (p.Thr433Ser)
c.1228A>T (p.Thr410Ser)
c.1072A>T (p.Thr358Ser)
c.334A>T
c.874+7389A>T (n.874+7389A>T)
c.672A>T
c.904A>T (p.Thr302Ser)
c.337+60084A>T (n.337+60084A>T)
c.530A>T
c.1231A>T (p.Thr411Ser)
c.1150A>T (p.Thr384Ser)
c.1453A>T (p.Thr485Ser)
c.1060A>T (p.Thr354Ser)
c.1147A>T (p.Thr383Ser)
c.1306A>T (p.Thr436Ser)
c.1075A>T (p.Thr359Ser)
12g.66455535T>CCA385626311GRIP1c.1297A>G (p.Thr433Ala)
c.1228A>G (p.Thr410Ala)
c.1072A>G (p.Thr358Ala)
c.334A>G
c.874+7389A>G (n.874+7389A>G)
c.672A>G
c.904A>G (p.Thr302Ala)
c.337+60084A>G (n.337+60084A>G)
c.530A>G
c.1231A>G (p.Thr411Ala)
c.1150A>G (p.Thr384Ala)
c.1453A>G (p.Thr485Ala)
c.1060A>G (p.Thr354Ala)
c.1147A>G (p.Thr383Ala)
c.1306A>G (p.Thr436Ala)
c.1075A>G (p.Thr359Ala)
 dbSNP gnomAD v2 gnomAD v4
12g.66455535T>GCA385626313GRIP1c.1297A>C (p.Thr433Pro)
c.1228A>C (p.Thr410Pro)
c.1072A>C (p.Thr358Pro)
c.334A>C
c.874+7389A>C (n.874+7389A>C)
c.672A>C
c.904A>C (p.Thr302Pro)
c.337+60084A>C (n.337+60084A>C)
c.530A>C
c.1231A>C (p.Thr411Pro)
c.1150A>C (p.Thr384Pro)
c.1453A>C (p.Thr485Pro)
c.1060A>C (p.Thr354Pro)
c.1147A>C (p.Thr383Pro)
c.1306A>C (p.Thr436Pro)
c.1075A>C (p.Thr359Pro)
 dbSNP gnomAD v3 gnomAD v4
12g.66455535T=CA2043057226GRIP1c.1297A= (p.Thr433=)
c.1228A= (p.Thr410=)
c.1072A= (p.Thr358=)
c.334A=
c.874+7389A= (n.874+7389A=)
c.672A=
c.904A= (p.Thr302=)
c.337+60084A= (n.337+60084A=)
c.530A=
c.1231A= (p.Thr411=)
c.1150A= (p.Thr384=)
c.1453A= (p.Thr485=)
c.1060A= (p.Thr354=)
c.1147A= (p.Thr383=)
c.1306A= (p.Thr436=)
c.1075A= (p.Thr359=)
12g.66455536A>CCA480574070GRIP1c.1296T>G (p.Pro432=)
c.1227T>G (p.Pro409=)
c.1071T>G (p.Pro357=)
c.333T>G
c.874+7388T>G (n.874+7388T>G)
c.671T>G
c.903T>G (p.Pro301=)
c.337+60083T>G (n.337+60083T>G)
c.529T>G
c.1230T>G (p.Pro410=)
c.1149T>G (p.Pro383=)
c.1452T>G (p.Pro484=)
c.1059T>G (p.Pro353=)
c.1146T>G (p.Pro382=)
c.1305T>G (p.Pro435=)
c.1074T>G (p.Pro358=)
12g.66455536A>GCA480574071GRIP1c.1296T>C (p.Pro432=)
c.1227T>C (p.Pro409=)
c.1071T>C (p.Pro357=)
c.333T>C
c.874+7388T>C (n.874+7388T>C)
c.671T>C
c.903T>C (p.Pro301=)
c.337+60083T>C (n.337+60083T>C)
c.529T>C
c.1230T>C (p.Pro410=)
c.1149T>C (p.Pro383=)
c.1452T>C (p.Pro484=)
c.1059T>C (p.Pro353=)
c.1146T>C (p.Pro382=)
c.1305T>C (p.Pro435=)
c.1074T>C (p.Pro358=)
12g.66455536A>TCA480574072GRIP1c.1296T>A (p.Pro432=)
c.1227T>A (p.Pro409=)
c.1071T>A (p.Pro357=)
c.333T>A
c.874+7388T>A (n.874+7388T>A)
c.671T>A
c.903T>A (p.Pro301=)
c.337+60083T>A (n.337+60083T>A)
c.529T>A
c.1230T>A (p.Pro410=)
c.1149T>A (p.Pro383=)
c.1452T>A (p.Pro484=)
c.1059T>A (p.Pro353=)
c.1146T>A (p.Pro382=)
c.1305T>A (p.Pro435=)
c.1074T>A (p.Pro358=)
12g.66455537G>ACA385626316GRIP1c.1295C>T (p.Pro432Leu)
c.1226C>T (p.Pro409Leu)
c.1070C>T (p.Pro357Leu)
c.332C>T
c.874+7387C>T (n.874+7387C>T)
c.670C>T
c.902C>T (p.Pro301Leu)
c.337+60082C>T (n.337+60082C>T)
c.528C>T
c.1229C>T (p.Pro410Leu)
c.1148C>T (p.Pro383Leu)
c.1451C>T (p.Pro484Leu)
c.1058C>T (p.Pro353Leu)
c.1145C>T (p.Pro382Leu)
c.1304C>T (p.Pro435Leu)
c.1073C>T (p.Pro358Leu)
 gnomAD v4
12g.66455537G>CCA385626315GRIP1c.1295C>G (p.Pro432Arg)
c.1226C>G (p.Pro409Arg)
c.1070C>G (p.Pro357Arg)
c.332C>G
c.874+7387C>G (n.874+7387C>G)
c.670C>G
c.902C>G (p.Pro301Arg)
c.337+60082C>G (n.337+60082C>G)
c.528C>G
c.1229C>G (p.Pro410Arg)
c.1148C>G (p.Pro383Arg)
c.1451C>G (p.Pro484Arg)
c.1058C>G (p.Pro353Arg)
c.1145C>G (p.Pro382Arg)
c.1304C>G (p.Pro435Arg)
c.1073C>G (p.Pro358Arg)
12g.66455537G>TCA385626314GRIP1c.1295C>A (p.Pro432His)
c.1226C>A (p.Pro409His)
c.1070C>A (p.Pro357His)
c.332C>A
c.874+7387C>A (n.874+7387C>A)
c.670C>A
c.902C>A (p.Pro301His)
c.337+60082C>A (n.337+60082C>A)
c.528C>A
c.1229C>A (p.Pro410His)
c.1148C>A (p.Pro383His)
c.1451C>A (p.Pro484His)
c.1058C>A (p.Pro353His)
c.1145C>A (p.Pro382His)
c.1304C>A (p.Pro435His)
c.1073C>A (p.Pro358His)
12g.66455538G>ACA238353688GRIP1c.1294C>T (p.Pro432Ser)
c.1225C>T (p.Pro409Ser)
c.1069C>T (p.Pro357Ser)
c.331C>T
c.874+7386C>T (n.874+7386C>T)
c.669C>T
c.901C>T (p.Pro301Ser)
c.337+60081C>T (n.337+60081C>T)
c.527C>T
c.1228C>T (p.Pro410Ser)
c.1147C>T (p.Pro383Ser)
c.1450C>T (p.Pro484Ser)
c.1057C>T (p.Pro353Ser)
c.1144C>T (p.Pro382Ser)
c.1303C>T (p.Pro435Ser)
c.1072C>T (p.Pro358Ser)
 dbSNP
12g.66455538G>CCA385626319GRIP1c.1294C>G (p.Pro432Ala)
c.1225C>G (p.Pro409Ala)
c.1069C>G (p.Pro357Ala)
c.331C>G
c.874+7386C>G (n.874+7386C>G)
c.669C>G
c.901C>G (p.Pro301Ala)
c.337+60081C>G (n.337+60081C>G)
c.527C>G
c.1228C>G (p.Pro410Ala)
c.1147C>G (p.Pro383Ala)
c.1450C>G (p.Pro484Ala)
c.1057C>G (p.Pro353Ala)
c.1144C>G (p.Pro382Ala)
c.1303C>G (p.Pro435Ala)
c.1072C>G (p.Pro358Ala)
12g.66455538G=CA2043057227GRIP1c.1294C= (p.Pro432=)
c.1225C= (p.Pro409=)
c.1069C= (p.Pro357=)
c.331C=
c.874+7386C= (n.874+7386C=)
c.669C=
c.901C= (p.Pro301=)
c.337+60081C= (n.337+60081C=)
c.527C=
c.1228C= (p.Pro410=)
c.1147C= (p.Pro383=)
c.1450C= (p.Pro484=)
c.1057C= (p.Pro353=)
c.1144C= (p.Pro382=)
c.1303C= (p.Pro435=)
c.1072C= (p.Pro358=)
12g.66455538G>TCA385626326GRIP1c.1294C>A (p.Pro432Thr)
c.1225C>A (p.Pro409Thr)
c.1069C>A (p.Pro357Thr)
c.331C>A
c.874+7386C>A (n.874+7386C>A)
c.669C>A
c.901C>A (p.Pro301Thr)
c.337+60081C>A (n.337+60081C>A)
c.527C>A
c.1228C>A (p.Pro410Thr)
c.1147C>A (p.Pro383Thr)
c.1450C>A (p.Pro484Thr)
c.1057C>A (p.Pro353Thr)
c.1144C>A (p.Pro382Thr)
c.1303C>A (p.Pro435Thr)
c.1072C>A (p.Pro358Thr)
 dbSNP
12g.66455539A>CCA480574079GRIP1c.1293T>G (p.Ser431=)
c.1224T>G (p.Ser408=)
c.1068T>G (p.Ser356=)
c.330T>G
c.874+7385T>G (n.874+7385T>G)
c.668T>G
c.900T>G (p.Ser300=)
c.337+60080T>G (n.337+60080T>G)
c.526T>G
c.1227T>G (p.Ser409=)
c.1146T>G (p.Ser382=)
c.1449T>G (p.Ser483=)
c.1056T>G (p.Ser352=)
c.1143T>G (p.Ser381=)
c.1302T>G (p.Ser434=)
c.1071T>G (p.Ser357=)
12g.66455539A>GCA480574081GRIP1c.1293T>C (p.Ser431=)
c.1224T>C (p.Ser408=)
c.1068T>C (p.Ser356=)
c.330T>C
c.874+7385T>C (n.874+7385T>C)
c.668T>C
c.900T>C (p.Ser300=)
c.337+60080T>C (n.337+60080T>C)
c.526T>C
c.1227T>C (p.Ser409=)
c.1146T>C (p.Ser382=)
c.1449T>C (p.Ser483=)
c.1056T>C (p.Ser352=)
c.1143T>C (p.Ser381=)
c.1302T>C (p.Ser434=)
c.1071T>C (p.Ser357=)
12g.66455539A>TCA480574082GRIP1c.1293T>A (p.Ser431=)
c.1224T>A (p.Ser408=)
c.1068T>A (p.Ser356=)
c.330T>A
c.874+7385T>A (n.874+7385T>A)
c.668T>A
c.900T>A (p.Ser300=)
c.337+60080T>A (n.337+60080T>A)
c.526T>A
c.1227T>A (p.Ser409=)
c.1146T>A (p.Ser382=)
c.1449T>A (p.Ser483=)
c.1056T>A (p.Ser352=)
c.1143T>A (p.Ser381=)
c.1302T>A (p.Ser434=)
c.1071T>A (p.Ser357=)
 ClinVar gnomAD v4
12g.66455540G>ACA385626329GRIP1c.1292C>T (p.Ser431Phe)
c.1223C>T (p.Ser408Phe)
c.1067C>T (p.Ser356Phe)
c.329C>T
c.874+7384C>T (n.874+7384C>T)
c.667C>T
c.899C>T (p.Ser300Phe)
c.337+60079C>T (n.337+60079C>T)
c.525C>T
c.1226C>T (p.Ser409Phe)
c.1145C>T (p.Ser382Phe)
c.1448C>T (p.Ser483Phe)
c.1055C>T (p.Ser352Phe)
c.1142C>T (p.Ser381Phe)
c.1301C>T (p.Ser434Phe)
c.1070C>T (p.Ser357Phe)
 COSMIC COSMIC
12g.66455540G>CCA385626334GRIP1c.1292C>G (p.Ser431Cys)
c.1223C>G (p.Ser408Cys)
c.1067C>G (p.Ser356Cys)
c.329C>G
c.874+7384C>G (n.874+7384C>G)
c.667C>G
c.899C>G (p.Ser300Cys)
c.337+60079C>G (n.337+60079C>G)
c.525C>G
c.1226C>G (p.Ser409Cys)
c.1145C>G (p.Ser382Cys)
c.1448C>G (p.Ser483Cys)
c.1055C>G (p.Ser352Cys)
c.1142C>G (p.Ser381Cys)
c.1301C>G (p.Ser434Cys)
c.1070C>G (p.Ser357Cys)
12g.66455540G>TCA385626336GRIP1c.1292C>A (p.Ser431Tyr)
c.1223C>A (p.Ser408Tyr)
c.1067C>A (p.Ser356Tyr)
c.329C>A
c.874+7384C>A (n.874+7384C>A)
c.667C>A
c.899C>A (p.Ser300Tyr)
c.337+60079C>A (n.337+60079C>A)
c.525C>A
c.1226C>A (p.Ser409Tyr)
c.1145C>A (p.Ser382Tyr)
c.1448C>A (p.Ser483Tyr)
c.1055C>A (p.Ser352Tyr)
c.1142C>A (p.Ser381Tyr)
c.1301C>A (p.Ser434Tyr)
c.1070C>A (p.Ser357Tyr)
12g.66455541A>CCA385626339GRIP1c.1291T>G (p.Ser431Ala)
c.1222T>G (p.Ser408Ala)
c.1066T>G (p.Ser356Ala)
c.328T>G
c.874+7383T>G (n.874+7383T>G)
c.666T>G
c.898T>G (p.Ser300Ala)
c.337+60078T>G (n.337+60078T>G)
c.524T>G
c.1225T>G (p.Ser409Ala)
c.1144T>G (p.Ser382Ala)
c.1447T>G (p.Ser483Ala)
c.1054T>G (p.Ser352Ala)
c.1141T>G (p.Ser381Ala)
c.1300T>G (p.Ser434Ala)
c.1069T>G (p.Ser357Ala)
12g.66455541A>GCA385626340GRIP1c.1291T>C (p.Ser431Pro)
c.1222T>C (p.Ser408Pro)
c.1066T>C (p.Ser356Pro)
c.328T>C
c.874+7383T>C (n.874+7383T>C)
c.666T>C
c.898T>C (p.Ser300Pro)
c.337+60078T>C (n.337+60078T>C)
c.524T>C
c.1225T>C (p.Ser409Pro)
c.1144T>C (p.Ser382Pro)
c.1447T>C (p.Ser483Pro)
c.1054T>C (p.Ser352Pro)
c.1141T>C (p.Ser381Pro)
c.1300T>C (p.Ser434Pro)
c.1069T>C (p.Ser357Pro)
12g.66455541A>TCA385626341GRIP1c.1291T>A (p.Ser431Thr)
c.1222T>A (p.Ser408Thr)
c.1066T>A (p.Ser356Thr)
c.328T>A
c.874+7383T>A (n.874+7383T>A)
c.666T>A
c.898T>A (p.Ser300Thr)
c.337+60078T>A (n.337+60078T>A)
c.524T>A
c.1225T>A (p.Ser409Thr)
c.1144T>A (p.Ser382Thr)
c.1447T>A (p.Ser483Thr)
c.1054T>A (p.Ser352Thr)
c.1141T>A (p.Ser381Thr)
c.1300T>A (p.Ser434Thr)
c.1069T>A (p.Ser357Thr)
12g.66455542G>ACA6674434GRIP1c.1290C>T (p.Phe430=)
c.1221C>T (p.Phe407=)
c.1065C>T (p.Phe355=)
c.327C>T
c.874+7382C>T (n.874+7382C>T)
c.665C>T
c.897C>T (p.Phe299=)
c.337+60077C>T (n.337+60077C>T)
c.523C>T
c.1224C>T (p.Phe408=)
c.1143C>T (p.Phe381=)
c.1446C>T (p.Phe482=)
c.1053C>T (p.Phe351=)
c.1140C>T (p.Phe380=)
c.1299C>T (p.Phe433=)
c.1068C>T (p.Phe356=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455542G>CCA385626342GRIP1c.1290C>G (p.Phe430Leu)
c.1221C>G (p.Phe407Leu)
c.1065C>G (p.Phe355Leu)
c.327C>G
c.874+7382C>G (n.874+7382C>G)
c.665C>G
c.897C>G (p.Phe299Leu)
c.337+60077C>G (n.337+60077C>G)
c.523C>G
c.1224C>G (p.Phe408Leu)
c.1143C>G (p.Phe381Leu)
c.1446C>G (p.Phe482Leu)
c.1053C>G (p.Phe351Leu)
c.1140C>G (p.Phe380Leu)
c.1299C>G (p.Phe433Leu)
c.1068C>G (p.Phe356Leu)
12g.66455542G=CA2043057228GRIP1c.1290C= (p.Phe430=)
c.1221C= (p.Phe407=)
c.1065C= (p.Phe355=)
c.327C=
c.874+7382C= (n.874+7382C=)
c.665C=
c.897C= (p.Phe299=)
c.337+60077C= (n.337+60077C=)
c.523C=
c.1224C= (p.Phe408=)
c.1143C= (p.Phe381=)
c.1446C= (p.Phe482=)
c.1053C= (p.Phe351=)
c.1140C= (p.Phe380=)
c.1299C= (p.Phe433=)
c.1068C= (p.Phe356=)
12g.66455542G>TCA385626349GRIP1c.1290C>A (p.Phe430Leu)
c.1221C>A (p.Phe407Leu)
c.1065C>A (p.Phe355Leu)
c.327C>A
c.874+7382C>A (n.874+7382C>A)
c.665C>A
c.897C>A (p.Phe299Leu)
c.337+60077C>A (n.337+60077C>A)
c.523C>A
c.1224C>A (p.Phe408Leu)
c.1143C>A (p.Phe381Leu)
c.1446C>A (p.Phe482Leu)
c.1053C>A (p.Phe351Leu)
c.1140C>A (p.Phe380Leu)
c.1299C>A (p.Phe433Leu)
c.1068C>A (p.Phe356Leu)
12g.66455543A>CCA385626363GRIP1c.1289T>G (p.Phe430Cys)
c.1220T>G (p.Phe407Cys)
c.1064T>G (p.Phe355Cys)
c.326T>G
c.874+7381T>G (n.874+7381T>G)
c.664T>G
c.896T>G (p.Phe299Cys)
c.337+60076T>G (n.337+60076T>G)
c.522T>G
c.1223T>G (p.Phe408Cys)
c.1142T>G (p.Phe381Cys)
c.1445T>G (p.Phe482Cys)
c.1052T>G (p.Phe351Cys)
c.1139T>G (p.Phe380Cys)
c.1298T>G (p.Phe433Cys)
c.1067T>G (p.Phe356Cys)
12g.66455543A>GCA385626359GRIP1c.1289T>C (p.Phe430Ser)
c.1220T>C (p.Phe407Ser)
c.1064T>C (p.Phe355Ser)
c.326T>C
c.874+7381T>C (n.874+7381T>C)
c.664T>C
c.896T>C (p.Phe299Ser)
c.337+60076T>C (n.337+60076T>C)
c.522T>C
c.1223T>C (p.Phe408Ser)
c.1142T>C (p.Phe381Ser)
c.1445T>C (p.Phe482Ser)
c.1052T>C (p.Phe351Ser)
c.1139T>C (p.Phe380Ser)
c.1298T>C (p.Phe433Ser)
c.1067T>C (p.Phe356Ser)
12g.66455543A>TCA385626355GRIP1c.1289T>A (p.Phe430Tyr)
c.1220T>A (p.Phe407Tyr)
c.1064T>A (p.Phe355Tyr)
c.326T>A
c.874+7381T>A (n.874+7381T>A)
c.664T>A
c.896T>A (p.Phe299Tyr)
c.337+60076T>A (n.337+60076T>A)
c.522T>A
c.1223T>A (p.Phe408Tyr)
c.1142T>A (p.Phe381Tyr)
c.1445T>A (p.Phe482Tyr)
c.1052T>A (p.Phe351Tyr)
c.1139T>A (p.Phe380Tyr)
c.1298T>A (p.Phe433Tyr)
c.1067T>A (p.Phe356Tyr)
12g.66455544A>CCA385626365GRIP1c.1288T>G (p.Phe430Val)
c.1219T>G (p.Phe407Val)
c.1063T>G (p.Phe355Val)
c.325T>G
c.874+7380T>G (n.874+7380T>G)
c.663T>G
c.895T>G (p.Phe299Val)
c.337+60075T>G (n.337+60075T>G)
c.521T>G
c.1222T>G (p.Phe408Val)
c.1141T>G (p.Phe381Val)
c.1444T>G (p.Phe482Val)
c.1051T>G (p.Phe351Val)
c.1138T>G (p.Phe380Val)
c.1297T>G (p.Phe433Val)
c.1066T>G (p.Phe356Val)
12g.66455544A>GCA385626368GRIP1c.1288T>C (p.Phe430Leu)
c.1219T>C (p.Phe407Leu)
c.1063T>C (p.Phe355Leu)
c.325T>C
c.874+7380T>C (n.874+7380T>C)
c.663T>C
c.895T>C (p.Phe299Leu)
c.337+60075T>C (n.337+60075T>C)
c.521T>C
c.1222T>C (p.Phe408Leu)
c.1141T>C (p.Phe381Leu)
c.1444T>C (p.Phe482Leu)
c.1051T>C (p.Phe351Leu)
c.1138T>C (p.Phe380Leu)
c.1297T>C (p.Phe433Leu)
c.1066T>C (p.Phe356Leu)
12g.66455544A>TCA385626373GRIP1c.1288T>A (p.Phe430Ile)
c.1219T>A (p.Phe407Ile)
c.1063T>A (p.Phe355Ile)
c.325T>A
c.874+7380T>A (n.874+7380T>A)
c.663T>A
c.895T>A (p.Phe299Ile)
c.337+60075T>A (n.337+60075T>A)
c.521T>A
c.1222T>A (p.Phe408Ile)
c.1141T>A (p.Phe381Ile)
c.1444T>A (p.Phe482Ile)
c.1051T>A (p.Phe351Ile)
c.1138T>A (p.Phe380Ile)
c.1297T>A (p.Phe433Ile)
c.1066T>A (p.Phe356Ile)
12g.66455545G>ACA480574092GRIP1c.1287C>T (p.Ser429=)
c.1218C>T (p.Ser406=)
c.1062C>T (p.Ser354=)
c.324C>T
c.874+7379C>T (n.874+7379C>T)
c.662C>T
c.894C>T (p.Ser298=)
c.337+60074C>T (n.337+60074C>T)
c.520C>T
c.1221C>T (p.Ser407=)
c.1140C>T (p.Ser380=)
c.1443C>T (p.Ser481=)
c.1050C>T (p.Ser350=)
c.1137C>T (p.Ser379=)
c.1296C>T (p.Ser432=)
c.1065C>T (p.Ser355=)
 gnomAD v4
12g.66455545G>CCA480574094GRIP1c.1287C>G (p.Ser429=)
c.1218C>G (p.Ser406=)
c.1062C>G (p.Ser354=)
c.324C>G
c.874+7379C>G (n.874+7379C>G)
c.662C>G
c.894C>G (p.Ser298=)
c.337+60074C>G (n.337+60074C>G)
c.520C>G
c.1221C>G (p.Ser407=)
c.1140C>G (p.Ser380=)
c.1443C>G (p.Ser481=)
c.1050C>G (p.Ser350=)
c.1137C>G (p.Ser379=)
c.1296C>G (p.Ser432=)
c.1065C>G (p.Ser355=)
12g.66455545G=CA2043057229GRIP1c.1287C= (p.Ser429=)
c.1218C= (p.Ser406=)
c.1062C= (p.Ser354=)
c.324C=
c.874+7379C= (n.874+7379C=)
c.662C=
c.894C= (p.Ser298=)
c.337+60074C= (n.337+60074C=)
c.520C=
c.1221C= (p.Ser407=)
c.1140C= (p.Ser380=)
c.1443C= (p.Ser481=)
c.1050C= (p.Ser350=)
c.1137C= (p.Ser379=)
c.1296C= (p.Ser432=)
c.1065C= (p.Ser355=)
12g.66455545G>TCA480574097GRIP1c.1287C>A (p.Ser429=)
c.1218C>A (p.Ser406=)
c.1062C>A (p.Ser354=)
c.324C>A
c.874+7379C>A (n.874+7379C>A)
c.662C>A
c.894C>A (p.Ser298=)
c.337+60074C>A (n.337+60074C>A)
c.520C>A
c.1221C>A (p.Ser407=)
c.1140C>A (p.Ser380=)
c.1443C>A (p.Ser481=)
c.1050C>A (p.Ser350=)
c.1137C>A (p.Ser379=)
c.1296C>A (p.Ser432=)
c.1065C>A (p.Ser355=)
 ClinVar dbSNP
12g.66455546G>ACA6674435GRIP1c.1286C>T (p.Ser429Phe)
c.1217C>T (p.Ser406Phe)
c.1061C>T (p.Ser354Phe)
c.323C>T
c.874+7378C>T (n.874+7378C>T)
c.661C>T
c.893C>T (p.Ser298Phe)
c.337+60073C>T (n.337+60073C>T)
c.519C>T
c.1220C>T (p.Ser407Phe)
c.1139C>T (p.Ser380Phe)
c.1442C>T (p.Ser481Phe)
c.1049C>T (p.Ser350Phe)
c.1136C>T (p.Ser379Phe)
c.1295C>T (p.Ser432Phe)
c.1064C>T (p.Ser355Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.66455546G>CCA385626383GRIP1c.1286C>G (p.Ser429Cys)
c.1217C>G (p.Ser406Cys)
c.1061C>G (p.Ser354Cys)
c.323C>G
c.874+7378C>G (n.874+7378C>G)
c.661C>G
c.893C>G (p.Ser298Cys)
c.337+60073C>G (n.337+60073C>G)
c.519C>G
c.1220C>G (p.Ser407Cys)
c.1139C>G (p.Ser380Cys)
c.1442C>G (p.Ser481Cys)
c.1049C>G (p.Ser350Cys)
c.1136C>G (p.Ser379Cys)
c.1295C>G (p.Ser432Cys)
c.1064C>G (p.Ser355Cys)
12g.66455546G=CA2043057230GRIP1c.1286C= (p.Ser429=)
c.1217C= (p.Ser406=)
c.1061C= (p.Ser354=)
c.323C=
c.874+7378C= (n.874+7378C=)
c.661C=
c.893C= (p.Ser298=)
c.337+60073C= (n.337+60073C=)
c.519C=
c.1220C= (p.Ser407=)
c.1139C= (p.Ser380=)
c.1442C= (p.Ser481=)
c.1049C= (p.Ser350=)
c.1136C= (p.Ser379=)
c.1295C= (p.Ser432=)
c.1064C= (p.Ser355=)
12g.66455546G>TCA385626390GRIP1c.1286C>A (p.Ser429Tyr)
c.1217C>A (p.Ser406Tyr)
c.1061C>A (p.Ser354Tyr)
c.323C>A
c.874+7378C>A (n.874+7378C>A)
c.661C>A
c.893C>A (p.Ser298Tyr)
c.337+60073C>A (n.337+60073C>A)
c.519C>A
c.1220C>A (p.Ser407Tyr)
c.1139C>A (p.Ser380Tyr)
c.1442C>A (p.Ser481Tyr)
c.1049C>A (p.Ser350Tyr)
c.1136C>A (p.Ser379Tyr)
c.1295C>A (p.Ser432Tyr)
c.1064C>A (p.Ser355Tyr)
12g.66455547A>CCA385626394GRIP1c.1285T>G (p.Ser429Ala)
c.1216T>G (p.Ser406Ala)
c.1060T>G (p.Ser354Ala)
c.322T>G
c.874+7377T>G (n.874+7377T>G)
c.660T>G
c.892T>G (p.Ser298Ala)
c.337+60072T>G (n.337+60072T>G)
c.518T>G
c.1219T>G (p.Ser407Ala)
c.1138T>G (p.Ser380Ala)
c.1441T>G (p.Ser481Ala)
c.1048T>G (p.Ser350Ala)
c.1135T>G (p.Ser379Ala)
c.1294T>G (p.Ser432Ala)
c.1063T>G (p.Ser355Ala)
12g.66455547A>GCA385626397GRIP1c.1285T>C (p.Ser429Pro)
c.1216T>C (p.Ser406Pro)
c.1060T>C (p.Ser354Pro)
c.322T>C
c.874+7377T>C (n.874+7377T>C)
c.660T>C
c.892T>C (p.Ser298Pro)
c.337+60072T>C (n.337+60072T>C)
c.518T>C
c.1219T>C (p.Ser407Pro)
c.1138T>C (p.Ser380Pro)
c.1441T>C (p.Ser481Pro)
c.1048T>C (p.Ser350Pro)
c.1135T>C (p.Ser379Pro)
c.1294T>C (p.Ser432Pro)
c.1063T>C (p.Ser355Pro)
12g.66455547A>TCA385626400GRIP1c.1285T>A (p.Ser429Thr)
c.1216T>A (p.Ser406Thr)
c.1060T>A (p.Ser354Thr)
c.322T>A
c.874+7377T>A (n.874+7377T>A)
c.660T>A
c.892T>A (p.Ser298Thr)
c.337+60072T>A (n.337+60072T>A)
c.518T>A
c.1219T>A (p.Ser407Thr)
c.1138T>A (p.Ser380Thr)
c.1441T>A (p.Ser481Thr)
c.1048T>A (p.Ser350Thr)
c.1135T>A (p.Ser379Thr)
c.1294T>A (p.Ser432Thr)
c.1063T>A (p.Ser355Thr)
12g.66455548T>ACA480574106GRIP1c.1284A>T (p.Ser428=)
c.1215A>T (p.Ser405=)
c.1059A>T (p.Ser353=)
c.321A>T
c.874+7376A>T (n.874+7376A>T)
c.659A>T
c.891A>T (p.Ser297=)
c.337+60071A>T (n.337+60071A>T)
c.517A>T
c.1218A>T (p.Ser406=)
c.1137A>T (p.Ser379=)
c.1440A>T (p.Ser480=)
c.1047A>T (p.Ser349=)
c.1134A>T (p.Ser378=)
c.1293A>T (p.Ser431=)
c.1062A>T (p.Ser354=)
12g.66455548T>CCA480574107GRIP1c.1284A>G (p.Ser428=)
c.1215A>G (p.Ser405=)
c.1059A>G (p.Ser353=)
c.321A>G
c.874+7376A>G (n.874+7376A>G)
c.659A>G
c.891A>G (p.Ser297=)
c.337+60071A>G (n.337+60071A>G)
c.517A>G
c.1218A>G (p.Ser406=)
c.1137A>G (p.Ser379=)
c.1440A>G (p.Ser480=)
c.1047A>G (p.Ser349=)
c.1134A>G (p.Ser378=)
c.1293A>G (p.Ser431=)
c.1062A>G (p.Ser354=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.66455548T>GCA6674436GRIP1c.1284A>C (p.Ser428=)
c.1215A>C (p.Ser405=)
c.1059A>C (p.Ser353=)
c.321A>C
c.874+7376A>C (n.874+7376A>C)
c.659A>C
c.891A>C (p.Ser297=)
c.337+60071A>C (n.337+60071A>C)
c.517A>C
c.1218A>C (p.Ser406=)
c.1137A>C (p.Ser379=)
c.1440A>C (p.Ser480=)
c.1047A>C (p.Ser349=)
c.1134A>C (p.Ser378=)
c.1293A>C (p.Ser431=)
c.1062A>C (p.Ser354=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455548T=CA2043057231GRIP1c.1284A= (p.Ser428=)
c.1215A= (p.Ser405=)
c.1059A= (p.Ser353=)
c.321A=
c.874+7376A= (n.874+7376A=)
c.659A=
c.891A= (p.Ser297=)
c.337+60071A= (n.337+60071A=)
c.517A=
c.1218A= (p.Ser406=)
c.1137A= (p.Ser379=)
c.1440A= (p.Ser480=)
c.1047A= (p.Ser349=)
c.1134A= (p.Ser378=)
c.1293A= (p.Ser431=)
c.1062A= (p.Ser354=)
12g.66455549G>ACA385626405GRIP1c.1283C>T (p.Ser428Leu)
c.1214C>T (p.Ser405Leu)
c.1058C>T (p.Ser353Leu)
c.320C>T
c.874+7375C>T (n.874+7375C>T)
c.658C>T
c.890C>T (p.Ser297Leu)
c.337+60070C>T (n.337+60070C>T)
c.516C>T
c.1217C>T (p.Ser406Leu)
c.1136C>T (p.Ser379Leu)
c.1439C>T (p.Ser480Leu)
c.1046C>T (p.Ser349Leu)
c.1133C>T (p.Ser378Leu)
c.1292C>T (p.Ser431Leu)
c.1061C>T (p.Ser354Leu)
12g.66455549G>CCA385626417GRIP1c.1283C>G (p.Ser428Ter)
c.1214C>G (p.Ser405Ter)
c.1058C>G (p.Ser353Ter)
c.320C>G
c.874+7375C>G (n.874+7375C>G)
c.658C>G
c.890C>G (p.Ser297Ter)
c.337+60070C>G (n.337+60070C>G)
c.516C>G
c.1217C>G (p.Ser406Ter)
c.1136C>G (p.Ser379Ter)
c.1439C>G (p.Ser480Ter)
c.1046C>G (p.Ser349Ter)
c.1133C>G (p.Ser378Ter)
c.1292C>G (p.Ser431Ter)
c.1061C>G (p.Ser354Ter)
12g.66455549G>TCA385626420GRIP1c.1283C>A (p.Ser428Ter)
c.1214C>A (p.Ser405Ter)
c.1058C>A (p.Ser353Ter)
c.320C>A
c.874+7375C>A (n.874+7375C>A)
c.658C>A
c.890C>A (p.Ser297Ter)
c.337+60070C>A (n.337+60070C>A)
c.516C>A
c.1217C>A (p.Ser406Ter)
c.1136C>A (p.Ser379Ter)
c.1439C>A (p.Ser480Ter)
c.1046C>A (p.Ser349Ter)
c.1133C>A (p.Ser378Ter)
c.1292C>A (p.Ser431Ter)
c.1061C>A (p.Ser354Ter)
12g.66455550A>CCA385626426GRIP1c.1282T>G (p.Ser428Ala)
c.1213T>G (p.Ser405Ala)
c.1057T>G (p.Ser353Ala)
c.319T>G
c.874+7374T>G (n.874+7374T>G)
c.657T>G
c.889T>G (p.Ser297Ala)
c.337+60069T>G (n.337+60069T>G)
c.515T>G
c.1216T>G (p.Ser406Ala)
c.1135T>G (p.Ser379Ala)
c.1438T>G (p.Ser480Ala)
c.1045T>G (p.Ser349Ala)
c.1132T>G (p.Ser378Ala)
c.1291T>G (p.Ser431Ala)
c.1060T>G (p.Ser354Ala)
12g.66455550A>GCA385626422GRIP1c.1282T>C (p.Ser428Pro)
c.1213T>C (p.Ser405Pro)
c.1057T>C (p.Ser353Pro)
c.319T>C
c.874+7374T>C (n.874+7374T>C)
c.657T>C
c.889T>C (p.Ser297Pro)
c.337+60069T>C (n.337+60069T>C)
c.515T>C
c.1216T>C (p.Ser406Pro)
c.1135T>C (p.Ser379Pro)
c.1438T>C (p.Ser480Pro)
c.1045T>C (p.Ser349Pro)
c.1132T>C (p.Ser378Pro)
c.1291T>C (p.Ser431Pro)
c.1060T>C (p.Ser354Pro)
12g.66455550A>TCA385626424GRIP1c.1282T>A (p.Ser428Thr)
c.1213T>A (p.Ser405Thr)
c.1057T>A (p.Ser353Thr)
c.319T>A
c.874+7374T>A (n.874+7374T>A)
c.657T>A
c.889T>A (p.Ser297Thr)
c.337+60069T>A (n.337+60069T>A)
c.515T>A
c.1216T>A (p.Ser406Thr)
c.1135T>A (p.Ser379Thr)
c.1438T>A (p.Ser480Thr)
c.1045T>A (p.Ser349Thr)
c.1132T>A (p.Ser378Thr)
c.1291T>A (p.Ser431Thr)
c.1060T>A (p.Ser354Thr)
12g.66455551A>CCA480574113GRIP1c.1281T>G (p.Ser427=)
c.1212T>G (p.Ser404=)
c.1056T>G (p.Ser352=)
c.318T>G
c.874+7373T>G (n.874+7373T>G)
c.656T>G
c.888T>G (p.Ser296=)
c.337+60068T>G (n.337+60068T>G)
c.514T>G
c.1215T>G (p.Ser405=)
c.1134T>G (p.Ser378=)
c.1437T>G (p.Ser479=)
c.1044T>G (p.Ser348=)
c.1131T>G (p.Ser377=)
c.1290T>G (p.Ser430=)
c.1059T>G (p.Ser353=)
 COSMIC
12g.66455551A>GCA480574117GRIP1c.1281T>C (p.Ser427=)
c.1212T>C (p.Ser404=)
c.1056T>C (p.Ser352=)
c.318T>C
c.874+7373T>C (n.874+7373T>C)
c.656T>C
c.888T>C (p.Ser296=)
c.337+60068T>C (n.337+60068T>C)
c.514T>C
c.1215T>C (p.Ser405=)
c.1134T>C (p.Ser378=)
c.1437T>C (p.Ser479=)
c.1044T>C (p.Ser348=)
c.1131T>C (p.Ser377=)
c.1290T>C (p.Ser430=)
c.1059T>C (p.Ser353=)
12g.66455551A>TCA480574115GRIP1c.1281T>A (p.Ser427=)
c.1212T>A (p.Ser404=)
c.1056T>A (p.Ser352=)
c.318T>A
c.874+7373T>A (n.874+7373T>A)
c.656T>A
c.888T>A (p.Ser296=)
c.337+60068T>A (n.337+60068T>A)
c.514T>A
c.1215T>A (p.Ser405=)
c.1134T>A (p.Ser378=)
c.1437T>A (p.Ser479=)
c.1044T>A (p.Ser348=)
c.1131T>A (p.Ser377=)
c.1290T>A (p.Ser430=)
c.1059T>A (p.Ser353=)
12g.66455552G>ACA385626429GRIP1c.1280C>T (p.Ser427Phe)
c.1211C>T (p.Ser404Phe)
c.1055C>T (p.Ser352Phe)
c.317C>T
c.874+7372C>T (n.874+7372C>T)
c.655C>T
c.887C>T (p.Ser296Phe)
c.337+60067C>T (n.337+60067C>T)
c.513C>T
c.1214C>T (p.Ser405Phe)
c.1133C>T (p.Ser378Phe)
c.1436C>T (p.Ser479Phe)
c.1043C>T (p.Ser348Phe)
c.1130C>T (p.Ser377Phe)
c.1289C>T (p.Ser430Phe)
c.1058C>T (p.Ser353Phe)
12g.66455552G>CCA385626432GRIP1c.1280C>G (p.Ser427Cys)
c.1211C>G (p.Ser404Cys)
c.1055C>G (p.Ser352Cys)
c.317C>G
c.874+7372C>G (n.874+7372C>G)
c.655C>G
c.887C>G (p.Ser296Cys)
c.337+60067C>G (n.337+60067C>G)
c.513C>G
c.1214C>G (p.Ser405Cys)
c.1133C>G (p.Ser378Cys)
c.1436C>G (p.Ser479Cys)
c.1043C>G (p.Ser348Cys)
c.1130C>G (p.Ser377Cys)
c.1289C>G (p.Ser430Cys)
c.1058C>G (p.Ser353Cys)
12g.66455552G>TCA385626433GRIP1c.1280C>A (p.Ser427Tyr)
c.1211C>A (p.Ser404Tyr)
c.1055C>A (p.Ser352Tyr)
c.317C>A
c.874+7372C>A (n.874+7372C>A)
c.655C>A
c.887C>A (p.Ser296Tyr)
c.337+60067C>A (n.337+60067C>A)
c.513C>A
c.1214C>A (p.Ser405Tyr)
c.1133C>A (p.Ser378Tyr)
c.1436C>A (p.Ser479Tyr)
c.1043C>A (p.Ser348Tyr)
c.1130C>A (p.Ser377Tyr)
c.1289C>A (p.Ser430Tyr)
c.1058C>A (p.Ser353Tyr)
12g.66455553A=CA2043057232GRIP1c.1279T= (p.Ser427=)
c.1210T= (p.Ser404=)
c.1054T= (p.Ser352=)
c.316T=
c.874+7371T= (n.874+7371T=)
c.654T=
c.886T= (p.Ser296=)
c.337+60066T= (n.337+60066T=)
c.512T=
c.1213T= (p.Ser405=)
c.1132T= (p.Ser378=)
c.1435T= (p.Ser479=)
c.1042T= (p.Ser348=)
c.1129T= (p.Ser377=)
c.1288T= (p.Ser430=)
c.1057T= (p.Ser353=)
12g.66455553A>CCA385626434GRIP1c.1279T>G (p.Ser427Ala)
c.1210T>G (p.Ser404Ala)
c.1054T>G (p.Ser352Ala)
c.316T>G
c.874+7371T>G (n.874+7371T>G)
c.654T>G
c.886T>G (p.Ser296Ala)
c.337+60066T>G (n.337+60066T>G)
c.512T>G
c.1213T>G (p.Ser405Ala)
c.1132T>G (p.Ser378Ala)
c.1435T>G (p.Ser479Ala)
c.1042T>G (p.Ser348Ala)
c.1129T>G (p.Ser377Ala)
c.1288T>G (p.Ser430Ala)
c.1057T>G (p.Ser353Ala)
12g.66455553A>GCA385626435GRIP1c.1279T>C (p.Ser427Pro)
c.1210T>C (p.Ser404Pro)
c.1054T>C (p.Ser352Pro)
c.316T>C
c.874+7371T>C (n.874+7371T>C)
c.654T>C
c.886T>C (p.Ser296Pro)
c.337+60066T>C (n.337+60066T>C)
c.512T>C
c.1213T>C (p.Ser405Pro)
c.1132T>C (p.Ser378Pro)
c.1435T>C (p.Ser479Pro)
c.1042T>C (p.Ser348Pro)
c.1129T>C (p.Ser377Pro)
c.1288T>C (p.Ser430Pro)
c.1057T>C (p.Ser353Pro)
12g.66455553A>TCA385626436GRIP1c.1279T>A (p.Ser427Thr)
c.1210T>A (p.Ser404Thr)
c.1054T>A (p.Ser352Thr)
c.316T>A
c.874+7371T>A (n.874+7371T>A)
c.654T>A
c.886T>A (p.Ser296Thr)
c.337+60066T>A (n.337+60066T>A)
c.512T>A
c.1213T>A (p.Ser405Thr)
c.1132T>A (p.Ser378Thr)
c.1435T>A (p.Ser479Thr)
c.1042T>A (p.Ser348Thr)
c.1129T>A (p.Ser377Thr)
c.1288T>A (p.Ser430Thr)
c.1057T>A (p.Ser353Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.66455554C>ACA480574120GRIP1c.1278G>T (p.Val426=)
c.1209G>T (p.Val403=)
c.1053G>T (p.Val351=)
c.315G>T
c.874+7370G>T (n.874+7370G>T)
c.653G>T
c.885G>T (p.Val295=)
c.337+60065G>T (n.337+60065G>T)
c.511G>T
c.1212G>T (p.Val404=)
c.1131G>T (p.Val377=)
c.1434G>T (p.Val478=)
c.1041G>T (p.Val347=)
c.1128G>T (p.Val376=)
c.1287G>T (p.Val429=)
c.1056G>T (p.Val352=)
 COSMIC COSMIC
12g.66455554C=CA2043057233GRIP1c.1278G= (p.Val426=)
c.1209G= (p.Val403=)
c.1053G= (p.Val351=)
c.315G=
c.874+7370G= (n.874+7370G=)
c.653G=
c.885G= (p.Val295=)
c.337+60065G= (n.337+60065G=)
c.511G=
c.1212G= (p.Val404=)
c.1131G= (p.Val377=)
c.1434G= (p.Val478=)
c.1041G= (p.Val347=)
c.1128G= (p.Val376=)
c.1287G= (p.Val429=)
c.1056G= (p.Val352=)
12g.66455554C>GCA480574121GRIP1c.1278G>C (p.Val426=)
c.1209G>C (p.Val403=)
c.1053G>C (p.Val351=)
c.315G>C
c.874+7370G>C (n.874+7370G>C)
c.653G>C
c.885G>C (p.Val295=)
c.337+60065G>C (n.337+60065G>C)
c.511G>C
c.1212G>C (p.Val404=)
c.1131G>C (p.Val377=)
c.1434G>C (p.Val478=)
c.1041G>C (p.Val347=)
c.1128G>C (p.Val376=)
c.1287G>C (p.Val429=)
c.1056G>C (p.Val352=)
 dbSNP
12g.66455554C>TCA480574123GRIP1c.1278G>A (p.Val426=)
c.1209G>A (p.Val403=)
c.1053G>A (p.Val351=)
c.315G>A
c.874+7370G>A (n.874+7370G>A)
c.653G>A
c.885G>A (p.Val295=)
c.337+60065G>A (n.337+60065G>A)
c.511G>A
c.1212G>A (p.Val404=)
c.1131G>A (p.Val377=)
c.1434G>A (p.Val478=)
c.1041G>A (p.Val347=)
c.1128G>A (p.Val376=)
c.1287G>A (p.Val429=)
c.1056G>A (p.Val352=)
 dbSNP gnomAD v3 gnomAD v4
12g.66455555A>CCA385626437GRIP1c.1277T>G (p.Val426Gly)
c.1208T>G (p.Val403Gly)
c.1052T>G (p.Val351Gly)
c.314T>G
c.874+7369T>G (n.874+7369T>G)
c.652T>G
c.884T>G (p.Val295Gly)
c.337+60064T>G (n.337+60064T>G)
c.510T>G
c.1211T>G (p.Val404Gly)
c.1130T>G (p.Val377Gly)
c.1433T>G (p.Val478Gly)
c.1040T>G (p.Val347Gly)
c.1127T>G (p.Val376Gly)
c.1286T>G (p.Val429Gly)
c.1055T>G (p.Val352Gly)
12g.66455555A>GCA385626438GRIP1c.1277T>C (p.Val426Ala)
c.1208T>C (p.Val403Ala)
c.1052T>C (p.Val351Ala)
c.314T>C
c.874+7369T>C (n.874+7369T>C)
c.652T>C
c.884T>C (p.Val295Ala)
c.337+60064T>C (n.337+60064T>C)
c.510T>C
c.1211T>C (p.Val404Ala)
c.1130T>C (p.Val377Ala)
c.1433T>C (p.Val478Ala)
c.1040T>C (p.Val347Ala)
c.1127T>C (p.Val376Ala)
c.1286T>C (p.Val429Ala)
c.1055T>C (p.Val352Ala)
12g.66455555A>TCA385626440GRIP1c.1277T>A (p.Val426Glu)
c.1208T>A (p.Val403Glu)
c.1052T>A (p.Val351Glu)
c.314T>A
c.874+7369T>A (n.874+7369T>A)
c.652T>A
c.884T>A (p.Val295Glu)
c.337+60064T>A (n.337+60064T>A)
c.510T>A
c.1211T>A (p.Val404Glu)
c.1130T>A (p.Val377Glu)
c.1433T>A (p.Val478Glu)
c.1040T>A (p.Val347Glu)
c.1127T>A (p.Val376Glu)
c.1286T>A (p.Val429Glu)
c.1055T>A (p.Val352Glu)
12g.66455556C>ACA385626441GRIP1c.1276G>T (p.Val426Leu)
c.1207G>T (p.Val403Leu)
c.1051G>T (p.Val351Leu)
c.313G>T
c.874+7368G>T (n.874+7368G>T)
c.651G>T
c.883G>T (p.Val295Leu)
c.337+60063G>T (n.337+60063G>T)
c.509G>T
c.1210G>T (p.Val404Leu)
c.1129G>T (p.Val377Leu)
c.1432G>T (p.Val478Leu)
c.1039G>T (p.Val347Leu)
c.1126G>T (p.Val376Leu)
c.1285G>T (p.Val429Leu)
c.1054G>T (p.Val352Leu)
 COSMIC COSMIC
12g.66455556C=CA2043057234GRIP1c.1276G= (p.Val426=)
c.1207G= (p.Val403=)
c.1051G= (p.Val351=)
c.313G=
c.874+7368G= (n.874+7368G=)
c.651G=
c.883G= (p.Val295=)
c.337+60063G= (n.337+60063G=)
c.509G=
c.1210G= (p.Val404=)
c.1129G= (p.Val377=)
c.1432G= (p.Val478=)
c.1039G= (p.Val347=)
c.1126G= (p.Val376=)
c.1285G= (p.Val429=)
c.1054G= (p.Val352=)
12g.66455556C>GCA385626445GRIP1c.1276G>C (p.Val426Leu)
c.1207G>C (p.Val403Leu)
c.1051G>C (p.Val351Leu)
c.313G>C
c.874+7368G>C (n.874+7368G>C)
c.651G>C
c.883G>C (p.Val295Leu)
c.337+60063G>C (n.337+60063G>C)
c.509G>C
c.1210G>C (p.Val404Leu)
c.1129G>C (p.Val377Leu)
c.1432G>C (p.Val478Leu)
c.1039G>C (p.Val347Leu)
c.1126G>C (p.Val376Leu)
c.1285G>C (p.Val429Leu)
c.1054G>C (p.Val352Leu)
 gnomAD v4
12g.66455556C>TCA6674437GRIP1c.1276G>A (p.Val426Met)
c.1207G>A (p.Val403Met)
c.1051G>A (p.Val351Met)
c.313G>A
c.874+7368G>A (n.874+7368G>A)
c.651G>A
c.883G>A (p.Val295Met)
c.337+60063G>A (n.337+60063G>A)
c.509G>A
c.1210G>A (p.Val404Met)
c.1129G>A (p.Val377Met)
c.1432G>A (p.Val478Met)
c.1039G>A (p.Val347Met)
c.1126G>A (p.Val376Met)
c.1285G>A (p.Val429Met)
c.1054G>A (p.Val352Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455557C>ACA385626453GRIP1c.1275G>T (p.Leu425Phe)
c.1206G>T (p.Leu402Phe)
c.1050G>T (p.Leu350Phe)
c.312G>T
c.874+7367G>T (n.874+7367G>T)
c.650G>T
c.882G>T (p.Leu294Phe)
c.337+60062G>T (n.337+60062G>T)
c.508G>T
c.1209G>T (p.Leu403Phe)
c.1128G>T (p.Leu376Phe)
c.1431G>T (p.Leu477Phe)
c.1038G>T (p.Leu346Phe)
c.1125G>T (p.Leu375Phe)
c.1284G>T (p.Leu428Phe)
c.1053G>T (p.Leu351Phe)
12g.66455557C>GCA385626451GRIP1c.1275G>C (p.Leu425Phe)
c.1206G>C (p.Leu402Phe)
c.1050G>C (p.Leu350Phe)
c.312G>C
c.874+7367G>C (n.874+7367G>C)
c.650G>C
c.882G>C (p.Leu294Phe)
c.337+60062G>C (n.337+60062G>C)
c.508G>C
c.1209G>C (p.Leu403Phe)
c.1128G>C (p.Leu376Phe)
c.1431G>C (p.Leu477Phe)
c.1038G>C (p.Leu346Phe)
c.1125G>C (p.Leu375Phe)
c.1284G>C (p.Leu428Phe)
c.1053G>C (p.Leu351Phe)
12g.66455557C>TCA480574128GRIP1c.1275G>A (p.Leu425=)
c.1206G>A (p.Leu402=)
c.1050G>A (p.Leu350=)
c.312G>A
c.874+7367G>A (n.874+7367G>A)
c.650G>A
c.882G>A (p.Leu294=)
c.337+60062G>A (n.337+60062G>A)
c.508G>A
c.1209G>A (p.Leu403=)
c.1128G>A (p.Leu376=)
c.1431G>A (p.Leu477=)
c.1038G>A (p.Leu346=)
c.1125G>A (p.Leu375=)
c.1284G>A (p.Leu428=)
c.1053G>A (p.Leu351=)
12g.66455558A>CCA385626456GRIP1c.1274T>G (p.Leu425Trp)
c.1205T>G (p.Leu402Trp)
c.1049T>G (p.Leu350Trp)
c.311T>G
c.874+7366T>G (n.874+7366T>G)
c.649T>G
c.881T>G (p.Leu294Trp)
c.337+60061T>G (n.337+60061T>G)
c.507T>G
c.1208T>G (p.Leu403Trp)
c.1127T>G (p.Leu376Trp)
c.1430T>G (p.Leu477Trp)
c.1037T>G (p.Leu346Trp)
c.1124T>G (p.Leu375Trp)
c.1283T>G (p.Leu428Trp)
c.1052T>G (p.Leu351Trp)
12g.66455558A>GCA385626462GRIP1c.1274T>C (p.Leu425Ser)
c.1205T>C (p.Leu402Ser)
c.1049T>C (p.Leu350Ser)
c.311T>C
c.874+7366T>C (n.874+7366T>C)
c.649T>C
c.881T>C (p.Leu294Ser)
c.337+60061T>C (n.337+60061T>C)
c.507T>C
c.1208T>C (p.Leu403Ser)
c.1127T>C (p.Leu376Ser)
c.1430T>C (p.Leu477Ser)
c.1037T>C (p.Leu346Ser)
c.1124T>C (p.Leu375Ser)
c.1283T>C (p.Leu428Ser)
c.1052T>C (p.Leu351Ser)
12g.66455558A>TCA385626459GRIP1c.1274T>A (p.Leu425Ter)
c.1205T>A (p.Leu402Ter)
c.1049T>A (p.Leu350Ter)
c.311T>A
c.874+7366T>A (n.874+7366T>A)
c.649T>A
c.881T>A (p.Leu294Ter)
c.337+60061T>A (n.337+60061T>A)
c.507T>A
c.1208T>A (p.Leu403Ter)
c.1127T>A (p.Leu376Ter)
c.1430T>A (p.Leu477Ter)
c.1037T>A (p.Leu346Ter)
c.1124T>A (p.Leu375Ter)
c.1283T>A (p.Leu428Ter)
c.1052T>A (p.Leu351Ter)
12g.66455559A=CA2043057235GRIP1c.1273T= (p.Leu425=)
c.1204T= (p.Leu402=)
c.1048T= (p.Leu350=)
c.310T=
c.874+7365T= (n.874+7365T=)
c.648T=
c.880T= (p.Leu294=)
c.337+60060T= (n.337+60060T=)
c.506T=
c.1207T= (p.Leu403=)
c.1126T= (p.Leu376=)
c.1429T= (p.Leu477=)
c.1036T= (p.Leu346=)
c.1123T= (p.Leu375=)
c.1282T= (p.Leu428=)
c.1051T= (p.Leu351=)
12g.66455559A>CCA6674438GRIP1c.1273T>G (p.Leu425Val)
c.1204T>G (p.Leu402Val)
c.1048T>G (p.Leu350Val)
c.310T>G
c.874+7365T>G (n.874+7365T>G)
c.648T>G
c.880T>G (p.Leu294Val)
c.337+60060T>G (n.337+60060T>G)
c.506T>G
c.1207T>G (p.Leu403Val)
c.1126T>G (p.Leu376Val)
c.1429T>G (p.Leu477Val)
c.1036T>G (p.Leu346Val)
c.1123T>G (p.Leu375Val)
c.1282T>G (p.Leu428Val)
c.1051T>G (p.Leu351Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.66455559A>GCA480574132GRIP1c.1273T>C (p.Leu425=)
c.1204T>C (p.Leu402=)
c.1048T>C (p.Leu350=)
c.310T>C
c.874+7365T>C (n.874+7365T>C)
c.648T>C
c.880T>C (p.Leu294=)
c.337+60060T>C (n.337+60060T>C)
c.506T>C
c.1207T>C (p.Leu403=)
c.1126T>C (p.Leu376=)
c.1429T>C (p.Leu477=)
c.1036T>C (p.Leu346=)
c.1123T>C (p.Leu375=)
c.1282T>C (p.Leu428=)
c.1051T>C (p.Leu351=)
12g.66455559A>TCA385626463GRIP1c.1273T>A (p.Leu425Met)
c.1204T>A (p.Leu402Met)
c.1048T>A (p.Leu350Met)
c.310T>A
c.874+7365T>A (n.874+7365T>A)
c.648T>A
c.880T>A (p.Leu294Met)
c.337+60060T>A (n.337+60060T>A)
c.506T>A
c.1207T>A (p.Leu403Met)
c.1126T>A (p.Leu376Met)
c.1429T>A (p.Leu477Met)
c.1036T>A (p.Leu346Met)
c.1123T>A (p.Leu375Met)
c.1282T>A (p.Leu428Met)
c.1051T>A (p.Leu351Met)
12g.66455560A>CCA480574135GRIP1c.1272T>G (p.Ala424=)
c.1203T>G (p.Ala401=)
c.1047T>G (p.Ala349=)
c.309T>G
c.874+7364T>G (n.874+7364T>G)
c.647T>G
c.879T>G (p.Ala293=)
c.337+60059T>G (n.337+60059T>G)
c.505T>G
c.1206T>G (p.Ala402=)
c.1125T>G (p.Ala375=)
c.1428T>G (p.Ala476=)
c.1035T>G (p.Ala345=)
c.1122T>G (p.Ala374=)
c.1281T>G (p.Ala427=)
c.1050T>G (p.Ala350=)
12g.66455560A>GCA480574137GRIP1c.1272T>C (p.Ala424=)
c.1203T>C (p.Ala401=)
c.1047T>C (p.Ala349=)
c.309T>C
c.874+7364T>C (n.874+7364T>C)
c.647T>C
c.879T>C (p.Ala293=)
c.337+60059T>C (n.337+60059T>C)
c.505T>C
c.1206T>C (p.Ala402=)
c.1125T>C (p.Ala375=)
c.1428T>C (p.Ala476=)
c.1035T>C (p.Ala345=)
c.1122T>C (p.Ala374=)
c.1281T>C (p.Ala427=)
c.1050T>C (p.Ala350=)
12g.66455560A>TCA480574138GRIP1c.1272T>A (p.Ala424=)
c.1203T>A (p.Ala401=)
c.1047T>A (p.Ala349=)
c.309T>A
c.874+7364T>A (n.874+7364T>A)
c.647T>A
c.879T>A (p.Ala293=)
c.337+60059T>A (n.337+60059T>A)
c.505T>A
c.1206T>A (p.Ala402=)
c.1125T>A (p.Ala375=)
c.1428T>A (p.Ala476=)
c.1035T>A (p.Ala345=)
c.1122T>A (p.Ala374=)
c.1281T>A (p.Ala427=)
c.1050T>A (p.Ala350=)
12g.66455561G>ACA385626464GRIP1c.1271C>T (p.Ala424Val)
c.1202C>T (p.Ala401Val)
c.1046C>T (p.Ala349Val)
c.308C>T
c.874+7363C>T (n.874+7363C>T)
c.646C>T
c.878C>T (p.Ala293Val)
c.337+60058C>T (n.337+60058C>T)
c.504C>T
c.1205C>T (p.Ala402Val)
c.1124C>T (p.Ala375Val)
c.1427C>T (p.Ala476Val)
c.1034C>T (p.Ala345Val)
c.1121C>T (p.Ala374Val)
c.1280C>T (p.Ala427Val)
c.1049C>T (p.Ala350Val)
12g.66455561G>CCA385626466GRIP1c.1271C>G (p.Ala424Gly)
c.1202C>G (p.Ala401Gly)
c.1046C>G (p.Ala349Gly)
c.308C>G
c.874+7363C>G (n.874+7363C>G)
c.646C>G
c.878C>G (p.Ala293Gly)
c.337+60058C>G (n.337+60058C>G)
c.504C>G
c.1205C>G (p.Ala402Gly)
c.1124C>G (p.Ala375Gly)
c.1427C>G (p.Ala476Gly)
c.1034C>G (p.Ala345Gly)
c.1121C>G (p.Ala374Gly)
c.1280C>G (p.Ala427Gly)
c.1049C>G (p.Ala350Gly)
12g.66455561G>TCA385626469GRIP1c.1271C>A (p.Ala424Asp)
c.1202C>A (p.Ala401Asp)
c.1046C>A (p.Ala349Asp)
c.308C>A
c.874+7363C>A (n.874+7363C>A)
c.646C>A
c.878C>A (p.Ala293Asp)
c.337+60058C>A (n.337+60058C>A)
c.504C>A
c.1205C>A (p.Ala402Asp)
c.1124C>A (p.Ala375Asp)
c.1427C>A (p.Ala476Asp)
c.1034C>A (p.Ala345Asp)
c.1121C>A (p.Ala374Asp)
c.1280C>A (p.Ala427Asp)
c.1049C>A (p.Ala350Asp)
12g.66455562C>ACA385626480GRIP1c.1270G>T (p.Ala424Ser)
c.1201G>T (p.Ala401Ser)
c.1045G>T (p.Ala349Ser)
c.307G>T
c.874+7362G>T (n.874+7362G>T)
c.645G>T
c.877G>T (p.Ala293Ser)
c.337+60057G>T (n.337+60057G>T)
c.504-1G>T
c.1204G>T (p.Ala402Ser)
c.1123G>T (p.Ala375Ser)
c.1426G>T (p.Ala476Ser)
c.1033G>T (p.Ala345Ser)
c.1121-1G>T (n.1121-1G>T)
c.1279G>T (p.Ala427Ser)
c.1048G>T (p.Ala350Ser)
c.1046-1G>T (n.1046-1G>T)
12g.66455562C>GCA385626475GRIP1c.1270G>C (p.Ala424Pro)
c.1201G>C (p.Ala401Pro)
c.1045G>C (p.Ala349Pro)
c.307G>C
c.874+7362G>C (n.874+7362G>C)
c.645G>C
c.877G>C (p.Ala293Pro)
c.337+60057G>C (n.337+60057G>C)
c.504-1G>C
c.1204G>C (p.Ala402Pro)
c.1123G>C (p.Ala375Pro)
c.1426G>C (p.Ala476Pro)
c.1033G>C (p.Ala345Pro)
c.1121-1G>C (n.1121-1G>C)
c.1279G>C (p.Ala427Pro)
c.1048G>C (p.Ala350Pro)
c.1046-1G>C (n.1046-1G>C)
12g.66455562C>TCA385626473GRIP1c.1270G>A (p.Ala424Thr)
c.1201G>A (p.Ala401Thr)
c.1045G>A (p.Ala349Thr)
c.307G>A
c.874+7362G>A (n.874+7362G>A)
c.645G>A
c.877G>A (p.Ala293Thr)
c.337+60057G>A (n.337+60057G>A)
c.504-1G>A
c.1204G>A (p.Ala402Thr)
c.1123G>A (p.Ala375Thr)
c.1426G>A (p.Ala476Thr)
c.1033G>A (p.Ala345Thr)
c.1121-1G>A (n.1121-1G>A)
c.1279G>A (p.Ala427Thr)
c.1048G>A (p.Ala350Thr)
c.1046-1G>A (n.1046-1G>A)
12g.66455563T>ACA480574144GRIP1c.1269A>T (p.Ala423=)
c.1200A>T (p.Pro400=)
c.1044A>T (p.Ala348=)
c.306A>T
c.874+7361A>T (n.874+7361A>T)
c.644A>T
c.876A>T (p.Ala292=)
c.337+60056A>T (n.337+60056A>T)
c.504-2A>T
c.1203A>T (p.Pro401=)
c.1122A>T (p.Pro374=)
c.1425A>T (p.Pro475=)
c.1032A>T (p.Pro344=)
c.1121-2A>T (n.1121-2A>T)
c.1122A>T (p.Ala374=)
c.1278A>T (p.Pro426=)
c.1047A>T (p.Ala349=)
c.1046-2A>T (n.1046-2A>T)
12g.66455563T>CCA480574145GRIP1c.1269A>G (p.Ala423=)
c.1200A>G (p.Pro400=)
c.1044A>G (p.Ala348=)
c.306A>G
c.874+7361A>G (n.874+7361A>G)
c.644A>G
c.876A>G (p.Ala292=)
c.337+60056A>G (n.337+60056A>G)
c.504-2A>G
c.1203A>G (p.Pro401=)
c.1122A>G (p.Pro374=)
c.1425A>G (p.Pro475=)
c.1032A>G (p.Pro344=)
c.1121-2A>G (n.1121-2A>G)
c.1122A>G (p.Ala374=)
c.1278A>G (p.Pro426=)
c.1047A>G (p.Ala349=)
c.1046-2A>G (n.1046-2A>G)
12g.66455563T>GCA480574146GRIP1c.1269A>C (p.Ala423=)
c.1200A>C (p.Pro400=)
c.1044A>C (p.Ala348=)
c.306A>C
c.874+7361A>C (n.874+7361A>C)
c.644A>C
c.876A>C (p.Ala292=)
c.337+60056A>C (n.337+60056A>C)
c.504-2A>C
c.1203A>C (p.Pro401=)
c.1122A>C (p.Pro374=)
c.1425A>C (p.Pro475=)
c.1032A>C (p.Pro344=)
c.1121-2A>C (n.1121-2A>C)
c.1122A>C (p.Ala374=)
c.1278A>C (p.Pro426=)
c.1047A>C (p.Ala349=)
c.1046-2A>C (n.1046-2A>C)
12g.66455564G>ACA385626483GRIP1c.1268C>T (p.Ala423Val)
c.1199C>T (p.Pro400Leu)
c.1043C>T (p.Ala348Val)
c.305C>T
c.874+7360C>T (n.874+7360C>T)
c.643C>T
c.875C>T (p.Ala292Val)
c.337+60055C>T (n.337+60055C>T)
c.504-3C>T
c.1202C>T (p.Pro401Leu)
c.1121C>T (p.Pro374Leu)
c.1424C>T (p.Pro475Leu)
c.1031C>T (p.Pro344Leu)
c.1121-3C>T (n.1121-3C>T)
c.1121C>T (p.Ala374Val)
c.1277C>T (p.Pro426Leu)
c.1046C>T (p.Ala349Val)
c.1046-3C>T (n.1046-3C>T)
12g.66455564G>CCA385626490GRIP1c.1268C>G (p.Ala423Gly)
c.1199C>G (p.Pro400Arg)
c.1043C>G (p.Ala348Gly)
c.305C>G
c.874+7360C>G (n.874+7360C>G)
c.643C>G
c.875C>G (p.Ala292Gly)
c.337+60055C>G (n.337+60055C>G)
c.504-3C>G
c.1202C>G (p.Pro401Arg)
c.1121C>G (p.Pro374Arg)
c.1424C>G (p.Pro475Arg)
c.1031C>G (p.Pro344Arg)
c.1121-3C>G (n.1121-3C>G)
c.1121C>G (p.Ala374Gly)
c.1277C>G (p.Pro426Arg)
c.1046C>G (p.Ala349Gly)
c.1046-3C>G (n.1046-3C>G)
12g.66455564G>TCA385626491GRIP1c.1268C>A (p.Ala423Glu)
c.1199C>A (p.Pro400Gln)
c.1043C>A (p.Ala348Glu)
c.305C>A
c.874+7360C>A (n.874+7360C>A)
c.643C>A
c.875C>A (p.Ala292Glu)
c.337+60055C>A (n.337+60055C>A)
c.504-3C>A
c.1202C>A (p.Pro401Gln)
c.1121C>A (p.Pro374Gln)
c.1424C>A (p.Pro475Gln)
c.1031C>A (p.Pro344Gln)
c.1121-3C>A (n.1121-3C>A)
c.1121C>A (p.Ala374Glu)
c.1277C>A (p.Pro426Gln)
c.1046C>A (p.Ala349Glu)
c.1046-3C>A (n.1046-3C>A)
 gnomAD v4
12g.66455565C>ACA385626495GRIP1c.1268-1G>T (n.1268-1G>T)
c.1199-1G>T (n.1199-1G>T)
c.1043-1G>T (n.1043-1G>T)
c.305-1G>T
c.874+7359G>T (n.874+7359G>T)
c.643-1G>T
c.875-1G>T (n.875-1G>T)
c.337+60054G>T (n.337+60054G>T)
c.504-4G>T
c.1202-1G>T (n.1202-1G>T)
c.1121-1G>T (n.1121-1G>T)
c.1424-1G>T (n.1424-1G>T)
c.1031-1G>T (n.1031-1G>T)
c.1121-4G>T (n.1121-4G>T)
c.1277-1G>T (n.1277-1G>T)
c.1046-1G>T (n.1046-1G>T)
c.1046-4G>T (n.1046-4G>T)
12g.66455565C=CA2043057236GRIP1c.1268-1G= (n.1268-1G=)
c.1199-1G= (n.1199-1G=)
c.1043-1G= (n.1043-1G=)
c.305-1G=
c.874+7359G= (n.874+7359G=)
c.643-1G=
c.875-1G= (n.875-1G=)
c.337+60054G= (n.337+60054G=)
c.504-4G=
c.1202-1G= (n.1202-1G=)
c.1121-1G= (n.1121-1G=)
c.1424-1G= (n.1424-1G=)
c.1031-1G= (n.1031-1G=)
c.1121-4G= (n.1121-4G=)
c.1277-1G= (n.1277-1G=)
c.1046-1G= (n.1046-1G=)
c.1046-4G= (n.1046-4G=)
12g.66455565C>GCA385626496GRIP1c.1268-1G>C (n.1268-1G>C)
c.1199-1G>C (n.1199-1G>C)
c.1043-1G>C (n.1043-1G>C)
c.305-1G>C
c.874+7359G>C (n.874+7359G>C)
c.643-1G>C
c.875-1G>C (n.875-1G>C)
c.337+60054G>C (n.337+60054G>C)
c.504-4G>C
c.1202-1G>C (n.1202-1G>C)
c.1121-1G>C (n.1121-1G>C)
c.1424-1G>C (n.1424-1G>C)
c.1031-1G>C (n.1031-1G>C)
c.1121-4G>C (n.1121-4G>C)
c.1277-1G>C (n.1277-1G>C)
c.1046-1G>C (n.1046-1G>C)
c.1046-4G>C (n.1046-4G>C)
12g.66455565C>TCA6674439GRIP1c.1268-1G>A (n.1268-1G>A)
c.1199-1G>A (n.1199-1G>A)
c.1043-1G>A (n.1043-1G>A)
c.305-1G>A
c.874+7359G>A (n.874+7359G>A)
c.643-1G>A
c.875-1G>A (n.875-1G>A)
c.337+60054G>A (n.337+60054G>A)
c.504-4G>A
c.1202-1G>A (n.1202-1G>A)
c.1121-1G>A (n.1121-1G>A)
c.1424-1G>A (n.1424-1G>A)
c.1031-1G>A (n.1031-1G>A)
c.1121-4G>A (n.1121-4G>A)
c.1277-1G>A (n.1277-1G>A)
c.1046-1G>A (n.1046-1G>A)
c.1046-4G>A (n.1046-4G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455565_66455566delinsCTCA2043057237GRIP1c.1268-2_1268-1delinsAG (n.1268-2_1268-1delinsAG)
c.1199-2_1199-1delinsAG (n.1199-2_1199-1delinsAG)
c.1043-2_1043-1delinsAG (n.1043-2_1043-1delinsAG)
c.305-2_305-1delinsAG
c.874+7358_874+7359delinsAG (n.874+7358_874+7359delinsAG)
c.643-2_643-1delinsAG
c.875-2_875-1delinsAG (n.875-2_875-1delinsAG)
c.337+60053_337+60054delinsAG (n.337+60053_337+60054delinsAG)
c.504-5_504-4delinsAG
c.1202-2_1202-1delinsAG (n.1202-2_1202-1delinsAG)
c.1121-2_1121-1delinsAG (n.1121-2_1121-1delinsAG)
c.1424-2_1424-1delinsAG (n.1424-2_1424-1delinsAG)
c.1031-2_1031-1delinsAG (n.1031-2_1031-1delinsAG)
c.1121-5_1121-4delinsAG (n.1121-5_1121-4delinsAG)
c.1277-2_1277-1delinsAG (n.1277-2_1277-1delinsAG)
c.1046-2_1046-1delinsAG (n.1046-2_1046-1delinsAG)
c.1046-5_1046-4delinsAG (n.1046-5_1046-4delinsAG)

Number of alleles fetched