Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36223416A=CA1846334410CLTA,GNEc.1461T= (p.Ala487=)
c.1191T= (p.Ala397=)
c.1368T= (p.Ala456=)
c.485+19237A= (n.485+19237A=)
c.1038T= (p.Ala346=)
c.1353T= (p.Ala451=)
c.1308T= (p.Ala436=)
c.1215T= (p.Ala405=)
9g.36223416A>CCA464495375CLTA,GNEc.1461T>G (p.Ala487=)
c.1191T>G (p.Ala397=)
c.1368T>G (p.Ala456=)
c.485+19237A>C (n.485+19237A>C)
c.1038T>G (p.Ala346=)
c.1353T>G (p.Ala451=)
c.1308T>G (p.Ala436=)
c.1215T>G (p.Ala405=)
9g.36223416A>GCA464495376CLTA,GNEc.1461T>C (p.Ala487=)
c.1191T>C (p.Ala397=)
c.1368T>C (p.Ala456=)
c.485+19237A>G (n.485+19237A>G)
c.1038T>C (p.Ala346=)
c.1353T>C (p.Ala451=)
c.1308T>C (p.Ala436=)
c.1215T>C (p.Ala405=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36223416A>TCA5056497CLTA,GNEc.1461T>A (p.Ala487=)
c.1191T>A (p.Ala397=)
c.1368T>A (p.Ala456=)
c.485+19237A>T (n.485+19237A>T)
c.1038T>A (p.Ala346=)
c.1353T>A (p.Ala451=)
c.1308T>A (p.Ala436=)
c.1215T>A (p.Ala405=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36223417G>ACA373427279CLTA,GNEc.1460C>T (p.Ala487Val)
c.1190C>T (p.Ala397Val)
c.1367C>T (p.Ala456Val)
c.485+19238G>A (n.485+19238G>A)
c.1037C>T (p.Ala346Val)
c.1352C>T (p.Ala451Val)
c.1307C>T (p.Ala436Val)
c.1214C>T (p.Ala405Val)
9g.36223417G>CCA373427280CLTA,GNEc.1460C>G (p.Ala487Gly)
c.1190C>G (p.Ala397Gly)
c.1367C>G (p.Ala456Gly)
c.485+19238G>C (n.485+19238G>C)
c.1037C>G (p.Ala346Gly)
c.1352C>G (p.Ala451Gly)
c.1307C>G (p.Ala436Gly)
c.1214C>G (p.Ala405Gly)
9g.36223417G>TCA373427281CLTA,GNEc.1460C>A (p.Ala487Asp)
c.1190C>A (p.Ala397Asp)
c.1367C>A (p.Ala456Asp)
c.485+19238G>T (n.485+19238G>T)
c.1037C>A (p.Ala346Asp)
c.1352C>A (p.Ala451Asp)
c.1307C>A (p.Ala436Asp)
c.1214C>A (p.Ala405Asp)
9g.36223418C>ACA373427290CLTA,GNEc.1459G>T (p.Ala487Ser)
c.1189G>T (p.Ala397Ser)
c.1366G>T (p.Ala456Ser)
c.485+19239C>A (n.485+19239C>A)
c.1036G>T (p.Ala346Ser)
c.1351G>T (p.Ala451Ser)
c.1306G>T (p.Ala436Ser)
c.1213G>T (p.Ala405Ser)
9g.36223418C>GCA373427292CLTA,GNEc.1459G>C (p.Ala487Pro)
c.1189G>C (p.Ala397Pro)
c.1366G>C (p.Ala456Pro)
c.485+19239C>G (n.485+19239C>G)
c.1036G>C (p.Ala346Pro)
c.1351G>C (p.Ala451Pro)
c.1306G>C (p.Ala436Pro)
c.1213G>C (p.Ala405Pro)
9g.36223418C>TCA373427284CLTA,GNEc.1459G>A (p.Ala487Thr)
c.1189G>A (p.Ala397Thr)
c.1366G>A (p.Ala456Thr)
c.485+19239C>T (n.485+19239C>T)
c.1036G>A (p.Ala346Thr)
c.1351G>A (p.Ala451Thr)
c.1306G>A (p.Ala436Thr)
c.1213G>A (p.Ala405Thr)
9g.36223419T>ACA373427293CLTA,GNEc.1458A>T (p.Glu486Asp)
c.1188A>T (p.Glu396Asp)
c.1365A>T (p.Glu455Asp)
c.485+19240T>A (n.485+19240T>A)
c.1035A>T (p.Glu345Asp)
c.1350A>T (p.Glu450Asp)
c.1305A>T (p.Glu435Asp)
c.1212A>T (p.Glu404Asp)
9g.36223419T>CCA464495380CLTA,GNEc.1458A>G (p.Glu486=)
c.1188A>G (p.Glu396=)
c.1365A>G (p.Glu455=)
c.485+19240T>C (n.485+19240T>C)
c.1035A>G (p.Glu345=)
c.1350A>G (p.Glu450=)
c.1305A>G (p.Glu435=)
c.1212A>G (p.Glu404=)
 ClinVar dbSNP
9g.36223419T>GCA373427295CLTA,GNEc.1458A>C (p.Glu486Asp)
c.1188A>C (p.Glu396Asp)
c.1365A>C (p.Glu455Asp)
c.485+19240T>G (n.485+19240T>G)
c.1035A>C (p.Glu345Asp)
c.1350A>C (p.Glu450Asp)
c.1305A>C (p.Glu435Asp)
c.1212A>C (p.Glu404Asp)
 gnomAD v4
9g.36223420T>ACA373427296CLTA,GNEc.1457A>T (p.Glu486Val)
c.1187A>T (p.Glu396Val)
c.1364A>T (p.Glu455Val)
c.485+19241T>A (n.485+19241T>A)
c.1034A>T (p.Glu345Val)
c.1349A>T (p.Glu450Val)
c.1304A>T (p.Glu435Val)
c.1211A>T (p.Glu404Val)
9g.36223420T>CCA373427298CLTA,GNEc.1457A>G (p.Glu486Gly)
c.1187A>G (p.Glu396Gly)
c.1364A>G (p.Glu455Gly)
c.485+19241T>C (n.485+19241T>C)
c.1034A>G (p.Glu345Gly)
c.1349A>G (p.Glu450Gly)
c.1304A>G (p.Glu435Gly)
c.1211A>G (p.Glu404Gly)
9g.36223420T>GCA373427297CLTA,GNEc.1457A>C (p.Glu486Ala)
c.1187A>C (p.Glu396Ala)
c.1364A>C (p.Glu455Ala)
c.485+19241T>G (n.485+19241T>G)
c.1034A>C (p.Glu345Ala)
c.1349A>C (p.Glu450Ala)
c.1304A>C (p.Glu435Ala)
c.1211A>C (p.Glu404Ala)
9g.36223421C>ACA373427299CLTA,GNEc.1456G>T (p.Glu486Ter)
c.1186G>T (p.Glu396Ter)
c.1363G>T (p.Glu455Ter)
c.485+19242C>A (n.485+19242C>A)
c.1033G>T (p.Glu345Ter)
c.1348G>T (p.Glu450Ter)
c.1303G>T (p.Glu435Ter)
c.1210G>T (p.Glu404Ter)
9g.36223421C>GCA373427300CLTA,GNEc.1456G>C (p.Glu486Gln)
c.1186G>C (p.Glu396Gln)
c.1363G>C (p.Glu455Gln)
c.485+19242C>G (n.485+19242C>G)
c.1033G>C (p.Glu345Gln)
c.1348G>C (p.Glu450Gln)
c.1303G>C (p.Glu435Gln)
c.1210G>C (p.Glu404Gln)
9g.36223421C>TCA373427301CLTA,GNEc.1456G>A (p.Glu486Lys)
c.1186G>A (p.Glu396Lys)
c.1363G>A (p.Glu455Lys)
c.485+19242C>T (n.485+19242C>T)
c.1033G>A (p.Glu345Lys)
c.1348G>A (p.Glu450Lys)
c.1303G>A (p.Glu435Lys)
c.1210G>A (p.Glu404Lys)
 dbSNP
9g.36223422C>ACA464495384CLTA,GNEc.1455G>T (p.Val485=)
c.1185G>T (p.Val395=)
c.1362G>T (p.Val454=)
c.485+19243C>A (n.485+19243C>A)
c.1032G>T (p.Val344=)
c.1347G>T (p.Val449=)
c.1302G>T (p.Val434=)
c.1209G>T (p.Val403=)
9g.36223422C>GCA464495385CLTA,GNEc.1455G>C (p.Val485=)
c.1185G>C (p.Val395=)
c.1362G>C (p.Val454=)
c.485+19243C>G (n.485+19243C>G)
c.1032G>C (p.Val344=)
c.1347G>C (p.Val449=)
c.1302G>C (p.Val434=)
c.1209G>C (p.Val403=)
 ClinVar
9g.36223422C>TCA464495386CLTA,GNEc.1455G>A (p.Val485=)
c.1185G>A (p.Val395=)
c.1362G>A (p.Val454=)
c.485+19243C>T (n.485+19243C>T)
c.1032G>A (p.Val344=)
c.1347G>A (p.Val449=)
c.1302G>A (p.Val434=)
c.1209G>A (p.Val403=)
9g.36223423A>CCA373427302CLTA,GNEc.1454T>G (p.Val485Gly)
c.1184T>G (p.Val395Gly)
c.1361T>G (p.Val454Gly)
c.485+19244A>C (n.485+19244A>C)
c.1031T>G (p.Val344Gly)
c.1346T>G (p.Val449Gly)
c.1301T>G (p.Val434Gly)
c.1208T>G (p.Val403Gly)
9g.36223423A>GCA373427304CLTA,GNEc.1454T>C (p.Val485Ala)
c.1184T>C (p.Val395Ala)
c.1361T>C (p.Val454Ala)
c.485+19244A>G (n.485+19244A>G)
c.1031T>C (p.Val344Ala)
c.1346T>C (p.Val449Ala)
c.1301T>C (p.Val434Ala)
c.1208T>C (p.Val403Ala)
 ClinVar dbSNP
9g.36223423A>TCA373427306CLTA,GNEc.1454T>A (p.Val485Glu)
c.1184T>A (p.Val395Glu)
c.1361T>A (p.Val454Glu)
c.485+19244A>T (n.485+19244A>T)
c.1031T>A (p.Val344Glu)
c.1346T>A (p.Val449Glu)
c.1301T>A (p.Val434Glu)
c.1208T>A (p.Val403Glu)
 gnomAD v4
9g.36223424C>ACA373427308CLTA,GNEc.1453G>T (p.Val485Leu)
c.1183G>T (p.Val395Leu)
c.1360G>T (p.Val454Leu)
c.485+19245C>A (n.485+19245C>A)
c.1030G>T (p.Val344Leu)
c.1345G>T (p.Val449Leu)
c.1300G>T (p.Val434Leu)
c.1207G>T (p.Val403Leu)
9g.36223424C=CA1846334415CLTA,GNEc.1453G= (p.Val485=)
c.1183G= (p.Val395=)
c.1360G= (p.Val454=)
c.485+19245C= (n.485+19245C=)
c.1030G= (p.Val344=)
c.1345G= (p.Val449=)
c.1300G= (p.Val434=)
c.1207G= (p.Val403=)
9g.36223424C>GCA373427310CLTA,GNEc.1453G>C (p.Val485Leu)
c.1183G>C (p.Val395Leu)
c.1360G>C (p.Val454Leu)
c.485+19245C>G (n.485+19245C>G)
c.1030G>C (p.Val344Leu)
c.1345G>C (p.Val449Leu)
c.1300G>C (p.Val434Leu)
c.1207G>C (p.Val403Leu)
9g.36223424C>TCA373427311CLTA,GNEc.1453G>A (p.Val485Met)
c.1183G>A (p.Val395Met)
c.1360G>A (p.Val454Met)
c.485+19245C>T (n.485+19245C>T)
c.1030G>A (p.Val344Met)
c.1345G>A (p.Val449Met)
c.1300G>A (p.Val434Met)
c.1207G>A (p.Val403Met)
 dbSNP gnomAD v2 gnomAD v4
9g.36223425A>CCA373427312CLTA,GNEc.1452T>G (p.Cys484Trp)
c.1182T>G (p.Cys394Trp)
c.1359T>G (p.Cys453Trp)
c.485+19246A>C (n.485+19246A>C)
c.1029T>G (p.Cys343Trp)
c.1344T>G (p.Cys448Trp)
c.1299T>G (p.Cys433Trp)
c.1206T>G (p.Cys402Trp)
9g.36223425A>GCA464495387CLTA,GNEc.1452T>C (p.Cys484=)
c.1182T>C (p.Cys394=)
c.1359T>C (p.Cys453=)
c.485+19246A>G (n.485+19246A>G)
c.1029T>C (p.Cys343=)
c.1344T>C (p.Cys448=)
c.1299T>C (p.Cys433=)
c.1206T>C (p.Cys402=)
9g.36223425A>TCA373427314CLTA,GNEc.1452T>A (p.Cys484Ter)
c.1182T>A (p.Cys394Ter)
c.1359T>A (p.Cys453Ter)
c.485+19246A>T (n.485+19246A>T)
c.1029T>A (p.Cys343Ter)
c.1344T>A (p.Cys448Ter)
c.1299T>A (p.Cys433Ter)
c.1206T>A (p.Cys402Ter)
9g.36223426C>ACA373427315CLTA,GNEc.1451G>T (p.Cys484Phe)
c.1181G>T (p.Cys394Phe)
c.1358G>T (p.Cys453Phe)
c.485+19247C>A (n.485+19247C>A)
c.1028G>T (p.Cys343Phe)
c.1343G>T (p.Cys448Phe)
c.1298G>T (p.Cys433Phe)
c.1205G>T (p.Cys402Phe)
9g.36223426C>GCA373427317CLTA,GNEc.1451G>C (p.Cys484Ser)
c.1181G>C (p.Cys394Ser)
c.1358G>C (p.Cys453Ser)
c.485+19247C>G (n.485+19247C>G)
c.1028G>C (p.Cys343Ser)
c.1343G>C (p.Cys448Ser)
c.1298G>C (p.Cys433Ser)
c.1205G>C (p.Cys402Ser)
9g.36223426C>TCA373427318CLTA,GNEc.1451G>A (p.Cys484Tyr)
c.1181G>A (p.Cys394Tyr)
c.1358G>A (p.Cys453Tyr)
c.485+19247C>T (n.485+19247C>T)
c.1028G>A (p.Cys343Tyr)
c.1343G>A (p.Cys448Tyr)
c.1298G>A (p.Cys433Tyr)
c.1205G>A (p.Cys402Tyr)
 gnomAD v4
9g.36223427A=CA1846334422CLTA,GNEc.1450T= (p.Cys484=)
c.1180T= (p.Cys394=)
c.1357T= (p.Cys453=)
c.485+19248A= (n.485+19248A=)
c.1027T= (p.Cys343=)
c.1342T= (p.Cys448=)
c.1297T= (p.Cys433=)
c.1204T= (p.Cys402=)
9g.36223427A>CCA192843934CLTA,GNEc.1450T>G (p.Cys484Gly)
c.1180T>G (p.Cys394Gly)
c.1357T>G (p.Cys453Gly)
c.485+19248A>C (n.485+19248A>C)
c.1027T>G (p.Cys343Gly)
c.1342T>G (p.Cys448Gly)
c.1297T>G (p.Cys433Gly)
c.1204T>G (p.Cys402Gly)
 dbSNP
9g.36223427A>GCA373427322CLTA,GNEc.1450T>C (p.Cys484Arg)
c.1180T>C (p.Cys394Arg)
c.1357T>C (p.Cys453Arg)
c.485+19248A>G (n.485+19248A>G)
c.1027T>C (p.Cys343Arg)
c.1342T>C (p.Cys448Arg)
c.1297T>C (p.Cys433Arg)
c.1204T>C (p.Cys402Arg)
9g.36223427A>TCA373427320CLTA,GNEc.1450T>A (p.Cys484Ser)
c.1180T>A (p.Cys394Ser)
c.1357T>A (p.Cys453Ser)
c.485+19248A>T (n.485+19248A>T)
c.1027T>A (p.Cys343Ser)
c.1342T>A (p.Cys448Ser)
c.1297T>A (p.Cys433Ser)
c.1204T>A (p.Cys402Ser)
9g.36223428_36223438delCA2689945890CLTA,GNEc.1440_1450del (p.Ile480MetfsTer?)
c.1170_1180del (p.Ile390MetfsTer?)
c.1347_1357del (p.Ile449MetfsTer?)
c.1347_1357del (p.Ile449MetfsTer29)
c.485+19249_485+19259del (n.485+19249_485+19259del)
c.1017_1027del (p.Ile339MetfsTer?)
c.1332_1342del (p.Ile444MetfsTer?)
c.1287_1297del (p.Ile429MetfsTer?)
c.1194_1204del (p.Ile398MetfsTer?)
 gnomAD v4
9g.36223428C>ACA373427325CLTA,GNEc.1449G>T (p.Met483Ile)
c.1179G>T (p.Met393Ile)
c.1356G>T (p.Met452Ile)
c.485+19249C>A (n.485+19249C>A)
c.1026G>T (p.Met342Ile)
c.1341G>T (p.Met447Ile)
c.1296G>T (p.Met432Ile)
c.1203G>T (p.Met401Ile)
9g.36223428C>GCA373427326CLTA,GNEc.1449G>C (p.Met483Ile)
c.1179G>C (p.Met393Ile)
c.1356G>C (p.Met452Ile)
c.485+19249C>G (n.485+19249C>G)
c.1026G>C (p.Met342Ile)
c.1341G>C (p.Met447Ile)
c.1296G>C (p.Met432Ile)
c.1203G>C (p.Met401Ile)
9g.36223428C>TCA373427327CLTA,GNEc.1449G>A (p.Met483Ile)
c.1179G>A (p.Met393Ile)
c.1356G>A (p.Met452Ile)
c.485+19249C>T (n.485+19249C>T)
c.1026G>A (p.Met342Ile)
c.1341G>A (p.Met447Ile)
c.1296G>A (p.Met432Ile)
c.1203G>A (p.Met401Ile)
 gnomAD v4
9g.36223429A>CCA373427328CLTA,GNEc.1448T>G (p.Met483Arg)
c.1178T>G (p.Met393Arg)
c.1355T>G (p.Met452Arg)
c.485+19250A>C (n.485+19250A>C)
c.1025T>G (p.Met342Arg)
c.1340T>G (p.Met447Arg)
c.1295T>G (p.Met432Arg)
c.1202T>G (p.Met401Arg)
9g.36223429A>GCA373427329CLTA,GNEc.1448T>C (p.Met483Thr)
c.1178T>C (p.Met393Thr)
c.1355T>C (p.Met452Thr)
c.485+19250A>G (n.485+19250A>G)
c.1025T>C (p.Met342Thr)
c.1340T>C (p.Met447Thr)
c.1295T>C (p.Met432Thr)
c.1202T>C (p.Met401Thr)
9g.36223429A>TCA373427331CLTA,GNEc.1448T>A (p.Met483Lys)
c.1178T>A (p.Met393Lys)
c.1355T>A (p.Met452Lys)
c.485+19250A>T (n.485+19250A>T)
c.1025T>A (p.Met342Lys)
c.1340T>A (p.Met447Lys)
c.1295T>A (p.Met432Lys)
c.1202T>A (p.Met401Lys)
9g.36223430T>ACA373427333CLTA,GNEc.1447A>T (p.Met483Leu)
c.1177A>T (p.Met393Leu)
c.1354A>T (p.Met452Leu)
c.485+19251T>A (n.485+19251T>A)
c.1024A>T (p.Met342Leu)
c.1339A>T (p.Met447Leu)
c.1294A>T (p.Met432Leu)
c.1201A>T (p.Met401Leu)
9g.36223430T>CCA5056498CLTA,GNEc.1447A>G (p.Met483Val)
c.1177A>G (p.Met393Val)
c.1354A>G (p.Met452Val)
c.485+19251T>C (n.485+19251T>C)
c.1024A>G (p.Met342Val)
c.1339A>G (p.Met447Val)
c.1294A>G (p.Met432Val)
c.1201A>G (p.Met401Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36223430T>GCA373427334CLTA,GNEc.1447A>C (p.Met483Leu)
c.1177A>C (p.Met393Leu)
c.1354A>C (p.Met452Leu)
c.485+19251T>G (n.485+19251T>G)
c.1024A>C (p.Met342Leu)
c.1339A>C (p.Met447Leu)
c.1294A>C (p.Met432Leu)
c.1201A>C (p.Met401Leu)
9g.36223430T=CA1846334426CLTA,GNEc.1447A= (p.Met483=)
c.1177A= (p.Met393=)
c.1354A= (p.Met452=)
c.485+19251T= (n.485+19251T=)
c.1024A= (p.Met342=)
c.1339A= (p.Met447=)
c.1294A= (p.Met432=)
c.1201A= (p.Met401=)
9g.36223431C>ACA373427336CLTA,GNEc.1446G>T (p.Gln482His)
c.1176G>T (p.Gln392His)
c.1353G>T (p.Gln451His)
c.485+19252C>A (n.485+19252C>A)
c.1023G>T (p.Gln341His)
c.1338G>T (p.Gln446His)
c.1293G>T (p.Gln431His)
c.1200G>T (p.Gln400His)
9g.36223431C>GCA373427338CLTA,GNEc.1446G>C (p.Gln482His)
c.1176G>C (p.Gln392His)
c.1353G>C (p.Gln451His)
c.485+19252C>G (n.485+19252C>G)
c.1023G>C (p.Gln341His)
c.1338G>C (p.Gln446His)
c.1293G>C (p.Gln431His)
c.1200G>C (p.Gln400His)
9g.36223431C>TCA464495392CLTA,GNEc.1446G>A (p.Gln482=)
c.1176G>A (p.Gln392=)
c.1353G>A (p.Gln451=)
c.485+19252C>T (n.485+19252C>T)
c.1023G>A (p.Gln341=)
c.1338G>A (p.Gln446=)
c.1293G>A (p.Gln431=)
c.1200G>A (p.Gln400=)
9g.36223432T>ACA373427340CLTA,GNEc.1445A>T (p.Gln482Leu)
c.1175A>T (p.Gln392Leu)
c.1352A>T (p.Gln451Leu)
c.485+19253T>A (n.485+19253T>A)
c.1022A>T (p.Gln341Leu)
c.1337A>T (p.Gln446Leu)
c.1292A>T (p.Gln431Leu)
c.1199A>T (p.Gln400Leu)
9g.36223432T>CCA373427342CLTA,GNEc.1445A>G (p.Gln482Arg)
c.1175A>G (p.Gln392Arg)
c.1352A>G (p.Gln451Arg)
c.485+19253T>C (n.485+19253T>C)
c.1022A>G (p.Gln341Arg)
c.1337A>G (p.Gln446Arg)
c.1292A>G (p.Gln431Arg)
c.1199A>G (p.Gln400Arg)
 dbSNP gnomAD v3 gnomAD v4
9g.36223432T>GCA373427343CLTA,GNEc.1445A>C (p.Gln482Pro)
c.1175A>C (p.Gln392Pro)
c.1352A>C (p.Gln451Pro)
c.485+19253T>G (n.485+19253T>G)
c.1022A>C (p.Gln341Pro)
c.1337A>C (p.Gln446Pro)
c.1292A>C (p.Gln431Pro)
c.1199A>C (p.Gln400Pro)
 ClinVar
9g.36223432T=CA1846334432CLTA,GNEc.1445A= (p.Gln482=)
c.1175A= (p.Gln392=)
c.1352A= (p.Gln451=)
c.485+19253T= (n.485+19253T=)
c.1022A= (p.Gln341=)
c.1337A= (p.Gln446=)
c.1292A= (p.Gln431=)
c.1199A= (p.Gln400=)
9g.36223433G>ACA5056499CLTA,GNEc.1444C>T (p.Gln482Ter)
c.1174C>T (p.Gln392Ter)
c.1351C>T (p.Gln451Ter)
c.485+19254G>A (n.485+19254G>A)
c.1021C>T (p.Gln341Ter)
c.1336C>T (p.Gln446Ter)
c.1291C>T (p.Gln431Ter)
c.1198C>T (p.Gln400Ter)
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.36223433G>CCA373427349CLTA,GNEc.1444C>G (p.Gln482Glu)
c.1174C>G (p.Gln392Glu)
c.1351C>G (p.Gln451Glu)
c.485+19254G>C (n.485+19254G>C)
c.1021C>G (p.Gln341Glu)
c.1336C>G (p.Gln446Glu)
c.1291C>G (p.Gln431Glu)
c.1198C>G (p.Gln400Glu)
9g.36223433G=CA1846334433CLTA,GNEc.1444C= (p.Gln482=)
c.1174C= (p.Gln392=)
c.1351C= (p.Gln451=)
c.485+19254G= (n.485+19254G=)
c.1021C= (p.Gln341=)
c.1336C= (p.Gln446=)
c.1291C= (p.Gln431=)
c.1198C= (p.Gln400=)
9g.36223433G>TCA373427347CLTA,GNEc.1444C>A (p.Gln482Lys)
c.1174C>A (p.Gln392Lys)
c.1351C>A (p.Gln451Lys)
c.485+19254G>T (n.485+19254G>T)
c.1021C>A (p.Gln341Lys)
c.1336C>A (p.Gln446Lys)
c.1291C>A (p.Gln431Lys)
c.1198C>A (p.Gln400Lys)
9g.36223434T>ACA464495395CLTA,GNEc.1443A>T (p.Leu481=)
c.1173A>T (p.Leu391=)
c.1350A>T (p.Leu450=)
c.485+19255T>A (n.485+19255T>A)
c.1020A>T (p.Leu340=)
c.1335A>T (p.Leu445=)
c.1290A>T (p.Leu430=)
c.1197A>T (p.Leu399=)
9g.36223434T>CCA464495394CLTA,GNEc.1443A>G (p.Leu481=)
c.1173A>G (p.Leu391=)
c.1350A>G (p.Leu450=)
c.485+19255T>C (n.485+19255T>C)
c.1020A>G (p.Leu340=)
c.1335A>G (p.Leu445=)
c.1290A>G (p.Leu430=)
c.1197A>G (p.Leu399=)
 ClinVar dbSNP gnomAD v4
9g.36223434T>GCA464495393CLTA,GNEc.1443A>C (p.Leu481=)
c.1173A>C (p.Leu391=)
c.1350A>C (p.Leu450=)
c.485+19255T>G (n.485+19255T>G)
c.1020A>C (p.Leu340=)
c.1335A>C (p.Leu445=)
c.1290A>C (p.Leu430=)
c.1197A>C (p.Leu399=)
 gnomAD v4
9g.36223434T=CA1846334437CLTA,GNEc.1443A= (p.Leu481=)
c.1173A= (p.Leu391=)
c.1350A= (p.Leu450=)
c.485+19255T= (n.485+19255T=)
c.1020A= (p.Leu340=)
c.1335A= (p.Leu445=)
c.1290A= (p.Leu430=)
c.1197A= (p.Leu399=)
9g.36223435A=CA1846334440CLTA,GNEc.1442T= (p.Leu481=)
c.1172T= (p.Leu391=)
c.1349T= (p.Leu450=)
c.485+19256A= (n.485+19256A=)
c.1019T= (p.Leu340=)
c.1334T= (p.Leu445=)
c.1289T= (p.Leu430=)
c.1196T= (p.Leu399=)
9g.36223435A>CCA373427352CLTA,GNEc.1442T>G (p.Leu481Arg)
c.1172T>G (p.Leu391Arg)
c.1349T>G (p.Leu450Arg)
c.485+19256A>C (n.485+19256A>C)
c.1019T>G (p.Leu340Arg)
c.1334T>G (p.Leu445Arg)
c.1289T>G (p.Leu430Arg)
c.1196T>G (p.Leu399Arg)
9g.36223435A>GCA373427354CLTA,GNEc.1442T>C (p.Leu481Pro)
c.1172T>C (p.Leu391Pro)
c.1349T>C (p.Leu450Pro)
c.485+19256A>G (n.485+19256A>G)
c.1019T>C (p.Leu340Pro)
c.1334T>C (p.Leu445Pro)
c.1289T>C (p.Leu430Pro)
c.1196T>C (p.Leu399Pro)
 dbSNP
9g.36223435A>TCA373427355CLTA,GNEc.1442T>A (p.Leu481Gln)
c.1172T>A (p.Leu391Gln)
c.1349T>A (p.Leu450Gln)
c.485+19256A>T (n.485+19256A>T)
c.1019T>A (p.Leu340Gln)
c.1334T>A (p.Leu445Gln)
c.1289T>A (p.Leu430Gln)
c.1196T>A (p.Leu399Gln)
9g.36223436G>ACA464495397CLTA,GNEc.1441C>T (p.Leu481=)
c.1171C>T (p.Leu391=)
c.1348C>T (p.Leu450=)
c.485+19257G>A (n.485+19257G>A)
c.1018C>T (p.Leu340=)
c.1333C>T (p.Leu445=)
c.1288C>T (p.Leu430=)
c.1195C>T (p.Leu399=)
9g.36223436G>CCA373427356CLTA,GNEc.1441C>G (p.Leu481Val)
c.1171C>G (p.Leu391Val)
c.1348C>G (p.Leu450Val)
c.485+19257G>C (n.485+19257G>C)
c.1018C>G (p.Leu340Val)
c.1333C>G (p.Leu445Val)
c.1288C>G (p.Leu430Val)
c.1195C>G (p.Leu399Val)
 dbSNP
9g.36223436G=CA1846334443CLTA,GNEc.1441C= (p.Leu481=)
c.1171C= (p.Leu391=)
c.1348C= (p.Leu450=)
c.485+19257G= (n.485+19257G=)
c.1018C= (p.Leu340=)
c.1333C= (p.Leu445=)
c.1288C= (p.Leu430=)
c.1195C= (p.Leu399=)
9g.36223436G>TCA373427358CLTA,GNEc.1441C>A (p.Leu481Ile)
c.1171C>A (p.Leu391Ile)
c.1348C>A (p.Leu450Ile)
c.485+19257G>T (n.485+19257G>T)
c.1018C>A (p.Leu340Ile)
c.1333C>A (p.Leu445Ile)
c.1288C>A (p.Leu430Ile)
c.1195C>A (p.Leu399Ile)
9g.36223437G>ACA464495398CLTA,GNEc.1440C>T (p.Ile480=)
c.1170C>T (p.Ile390=)
c.1347C>T (p.Ile449=)
c.485+19258G>A (n.485+19258G>A)
c.1017C>T (p.Ile339=)
c.1332C>T (p.Ile444=)
c.1287C>T (p.Ile429=)
c.1194C>T (p.Ile398=)
9g.36223437G>CCA373427359CLTA,GNEc.1440C>G (p.Ile480Met)
c.1170C>G (p.Ile390Met)
c.1347C>G (p.Ile449Met)
c.485+19258G>C (n.485+19258G>C)
c.1017C>G (p.Ile339Met)
c.1332C>G (p.Ile444Met)
c.1287C>G (p.Ile429Met)
c.1194C>G (p.Ile398Met)
9g.36223437G>TCA464495399CLTA,GNEc.1440C>A (p.Ile480=)
c.1170C>A (p.Ile390=)
c.1347C>A (p.Ile449=)
c.485+19258G>T (n.485+19258G>T)
c.1017C>A (p.Ile339=)
c.1332C>A (p.Ile444=)
c.1287C>A (p.Ile429=)
c.1194C>A (p.Ile398=)
9g.36223438A>CCA373427365CLTA,GNEc.1439T>G (p.Ile480Ser)
c.1169T>G (p.Ile390Ser)
c.1346T>G (p.Ile449Ser)
c.485+19259A>C (n.485+19259A>C)
c.1016T>G (p.Ile339Ser)
c.1331T>G (p.Ile444Ser)
c.1286T>G (p.Ile429Ser)
c.1193T>G (p.Ile398Ser)
9g.36223438A>GCA373427361CLTA,GNEc.1439T>C (p.Ile480Thr)
c.1169T>C (p.Ile390Thr)
c.1346T>C (p.Ile449Thr)
c.485+19259A>G (n.485+19259A>G)
c.1016T>C (p.Ile339Thr)
c.1331T>C (p.Ile444Thr)
c.1286T>C (p.Ile429Thr)
c.1193T>C (p.Ile398Thr)
9g.36223438A>TCA373427363CLTA,GNEc.1439T>A (p.Ile480Asn)
c.1169T>A (p.Ile390Asn)
c.1346T>A (p.Ile449Asn)
c.485+19259A>T (n.485+19259A>T)
c.1016T>A (p.Ile339Asn)
c.1331T>A (p.Ile444Asn)
c.1286T>A (p.Ile429Asn)
c.1193T>A (p.Ile398Asn)
9g.36223439T>ACA373427366CLTA,GNEc.1438A>T (p.Ile480Phe)
c.1168A>T (p.Ile390Phe)
c.1345A>T (p.Ile449Phe)
c.485+19260T>A (n.485+19260T>A)
c.1015A>T (p.Ile339Phe)
c.1330A>T (p.Ile444Phe)
c.1285A>T (p.Ile429Phe)
c.1192A>T (p.Ile398Phe)
9g.36223439T>CCA5056500CLTA,GNEc.1438A>G (p.Ile480Val)
c.1168A>G (p.Ile390Val)
c.1345A>G (p.Ile449Val)
c.485+19260T>C (n.485+19260T>C)
c.1015A>G (p.Ile339Val)
c.1330A>G (p.Ile444Val)
c.1285A>G (p.Ile429Val)
c.1192A>G (p.Ile398Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36223439T>GCA373427368CLTA,GNEc.1438A>C (p.Ile480Leu)
c.1168A>C (p.Ile390Leu)
c.1345A>C (p.Ile449Leu)
c.485+19260T>G (n.485+19260T>G)
c.1015A>C (p.Ile339Leu)
c.1330A>C (p.Ile444Leu)
c.1285A>C (p.Ile429Leu)
c.1192A>C (p.Ile398Leu)
9g.36223439T=CA1846334447CLTA,GNEc.1438A= (p.Ile480=)
c.1168A= (p.Ile390=)
c.1345A= (p.Ile449=)
c.485+19260T= (n.485+19260T=)
c.1015A= (p.Ile339=)
c.1330A= (p.Ile444=)
c.1285A= (p.Ile429=)
c.1192A= (p.Ile398=)
9g.36223440T>ACA373427369CLTA,GNEc.1437A>T (p.Leu479Phe)
c.1167A>T (p.Leu389Phe)
c.1344A>T (p.Leu448Phe)
c.485+19261T>A (n.485+19261T>A)
c.1014A>T (p.Leu338Phe)
c.1329A>T (p.Leu443Phe)
c.1284A>T (p.Leu428Phe)
c.1191A>T (p.Leu397Phe)
9g.36223440T>CCA464495400CLTA,GNEc.1437A>G (p.Leu479=)
c.1167A>G (p.Leu389=)
c.1344A>G (p.Leu448=)
c.485+19261T>C (n.485+19261T>C)
c.1014A>G (p.Leu338=)
c.1329A>G (p.Leu443=)
c.1284A>G (p.Leu428=)
c.1191A>G (p.Leu397=)
9g.36223440T>GCA373427371CLTA,GNEc.1437A>C (p.Leu479Phe)
c.1167A>C (p.Leu389Phe)
c.1344A>C (p.Leu448Phe)
c.485+19261T>G (n.485+19261T>G)
c.1014A>C (p.Leu338Phe)
c.1329A>C (p.Leu443Phe)
c.1284A>C (p.Leu428Phe)
c.1191A>C (p.Leu397Phe)
9g.36223441A>CCA373427373CLTA,GNEc.1436T>G (p.Leu479Ter)
c.1166T>G (p.Leu389Ter)
c.1343T>G (p.Leu448Ter)
c.485+19262A>C (n.485+19262A>C)
c.1013T>G (p.Leu338Ter)
c.1328T>G (p.Leu443Ter)
c.1283T>G (p.Leu428Ter)
c.1190T>G (p.Leu397Ter)
9g.36223441A>GCA373427375CLTA,GNEc.1436T>C (p.Leu479Ser)
c.1166T>C (p.Leu389Ser)
c.1343T>C (p.Leu448Ser)
c.485+19262A>G (n.485+19262A>G)
c.1013T>C (p.Leu338Ser)
c.1328T>C (p.Leu443Ser)
c.1283T>C (p.Leu428Ser)
c.1190T>C (p.Leu397Ser)
9g.36223441A>TCA373427374CLTA,GNEc.1436T>A (p.Leu479Ter)
c.1166T>A (p.Leu389Ter)
c.1343T>A (p.Leu448Ter)
c.485+19262A>T (n.485+19262A>T)
c.1013T>A (p.Leu338Ter)
c.1328T>A (p.Leu443Ter)
c.1283T>A (p.Leu428Ter)
c.1190T>A (p.Leu397Ter)
9g.36223442A>CCA373427377CLTA,GNEc.1435T>G (p.Leu479Val)
c.1165T>G (p.Leu389Val)
c.1342T>G (p.Leu448Val)
c.485+19263A>C (n.485+19263A>C)
c.1012T>G (p.Leu338Val)
c.1327T>G (p.Leu443Val)
c.1282T>G (p.Leu428Val)
c.1189T>G (p.Leu397Val)
9g.36223442A>GCA464495401CLTA,GNEc.1435T>C (p.Leu479=)
c.1165T>C (p.Leu389=)
c.1342T>C (p.Leu448=)
c.485+19263A>G (n.485+19263A>G)
c.1012T>C (p.Leu338=)
c.1327T>C (p.Leu443=)
c.1282T>C (p.Leu428=)
c.1189T>C (p.Leu397=)
9g.36223442A>TCA373427378CLTA,GNEc.1435T>A (p.Leu479Ile)
c.1165T>A (p.Leu389Ile)
c.1342T>A (p.Leu448Ile)
c.485+19263A>T (n.485+19263A>T)
c.1012T>A (p.Leu338Ile)
c.1327T>A (p.Leu443Ile)
c.1282T>A (p.Leu428Ile)
c.1189T>A (p.Leu397Ile)
9g.36223443A>CCA373427380CLTA,GNEc.1434T>G (p.Asn478Lys)
c.1164T>G (p.Asn388Lys)
c.1341T>G (p.Asn447Lys)
c.485+19264A>C (n.485+19264A>C)
c.1011T>G (p.Asn337Lys)
c.1326T>G (p.Asn442Lys)
c.1281T>G (p.Asn427Lys)
c.1188T>G (p.Asn396Lys)
9g.36223443A>GCA464495402CLTA,GNEc.1434T>C (p.Asn478=)
c.1164T>C (p.Asn388=)
c.1341T>C (p.Asn447=)
c.485+19264A>G (n.485+19264A>G)
c.1011T>C (p.Asn337=)
c.1326T>C (p.Asn442=)
c.1281T>C (p.Asn427=)
c.1188T>C (p.Asn396=)
9g.36223443A>TCA373427382CLTA,GNEc.1434T>A (p.Asn478Lys)
c.1164T>A (p.Asn388Lys)
c.1341T>A (p.Asn447Lys)
c.485+19264A>T (n.485+19264A>T)
c.1011T>A (p.Asn337Lys)
c.1326T>A (p.Asn442Lys)
c.1281T>A (p.Asn427Lys)
c.1188T>A (p.Asn396Lys)
 gnomAD v4
9g.36223444T>ACA373427383CLTA,GNEc.1433A>T (p.Asn478Ile)
c.1163A>T (p.Asn388Ile)
c.1340A>T (p.Asn447Ile)
c.485+19265T>A (n.485+19265T>A)
c.1010A>T (p.Asn337Ile)
c.1325A>T (p.Asn442Ile)
c.1280A>T (p.Asn427Ile)
c.1187A>T (p.Asn396Ile)
9g.36223444T>CCA373427385CLTA,GNEc.1433A>G (p.Asn478Ser)
c.1163A>G (p.Asn388Ser)
c.1340A>G (p.Asn447Ser)
c.485+19265T>C (n.485+19265T>C)
c.1010A>G (p.Asn337Ser)
c.1325A>G (p.Asn442Ser)
c.1280A>G (p.Asn427Ser)
c.1187A>G (p.Asn396Ser)
9g.36223444T>GCA373427386CLTA,GNEc.1433A>C (p.Asn478Thr)
c.1163A>C (p.Asn388Thr)
c.1340A>C (p.Asn447Thr)
c.485+19265T>G (n.485+19265T>G)
c.1010A>C (p.Asn337Thr)
c.1325A>C (p.Asn442Thr)
c.1280A>C (p.Asn427Thr)
c.1187A>C (p.Asn396Thr)
9g.36223445T>ACA373427393CLTA,GNEc.1432A>T (p.Asn478Tyr)
c.1162A>T (p.Asn388Tyr)
c.1339A>T (p.Asn447Tyr)
c.485+19266T>A (n.485+19266T>A)
c.1009A>T (p.Asn337Tyr)
c.1324A>T (p.Asn442Tyr)
c.1279A>T (p.Asn427Tyr)
c.1186A>T (p.Asn396Tyr)
9g.36223445T>CCA373427395CLTA,GNEc.1432A>G (p.Asn478Asp)
c.1162A>G (p.Asn388Asp)
c.1339A>G (p.Asn447Asp)
c.485+19266T>C (n.485+19266T>C)
c.1009A>G (p.Asn337Asp)
c.1324A>G (p.Asn442Asp)
c.1279A>G (p.Asn427Asp)
c.1186A>G (p.Asn396Asp)
9g.36223445T>GCA373427397CLTA,GNEc.1432A>C (p.Asn478His)
c.1162A>C (p.Asn388His)
c.1339A>C (p.Asn447His)
c.485+19266T>G (n.485+19266T>G)
c.1009A>C (p.Asn337His)
c.1324A>C (p.Asn442His)
c.1279A>C (p.Asn427His)
c.1186A>C (p.Asn396His)
9g.36223446A>CCA373427398CLTA,GNEc.1431T>G (p.Ile477Met)
c.1161T>G (p.Ile387Met)
c.1338T>G (p.Ile446Met)
c.485+19267A>C (n.485+19267A>C)
c.1008T>G (p.Ile336Met)
c.1323T>G (p.Ile441Met)
c.1278T>G (p.Ile426Met)
c.1185T>G (p.Ile395Met)
9g.36223446A>GCA464495403CLTA,GNEc.1431T>C (p.Ile477=)
c.1161T>C (p.Ile387=)
c.1338T>C (p.Ile446=)
c.485+19267A>G (n.485+19267A>G)
c.1008T>C (p.Ile336=)
c.1323T>C (p.Ile441=)
c.1278T>C (p.Ile426=)
c.1185T>C (p.Ile395=)
9g.36223446A>TCA464495404CLTA,GNEc.1431T>A (p.Ile477=)
c.1161T>A (p.Ile387=)
c.1338T>A (p.Ile446=)
c.485+19267A>T (n.485+19267A>T)
c.1008T>A (p.Ile336=)
c.1323T>A (p.Ile441=)
c.1278T>A (p.Ile426=)
c.1185T>A (p.Ile395=)
9g.36223447A>CCA373427402CLTA,GNEc.1430T>G (p.Ile477Ser)
c.1160T>G (p.Ile387Ser)
c.1337T>G (p.Ile446Ser)
c.485+19268A>C (n.485+19268A>C)
c.1007T>G (p.Ile336Ser)
c.1322T>G (p.Ile441Ser)
c.1277T>G (p.Ile426Ser)
c.1184T>G (p.Ile395Ser)
9g.36223447A>GCA373427399CLTA,GNEc.1430T>C (p.Ile477Thr)
c.1160T>C (p.Ile387Thr)
c.1337T>C (p.Ile446Thr)
c.485+19268A>G (n.485+19268A>G)
c.1007T>C (p.Ile336Thr)
c.1322T>C (p.Ile441Thr)
c.1277T>C (p.Ile426Thr)
c.1184T>C (p.Ile395Thr)
9g.36223447A>TCA373427401CLTA,GNEc.1430T>A (p.Ile477Asn)
c.1160T>A (p.Ile387Asn)
c.1337T>A (p.Ile446Asn)
c.485+19268A>T (n.485+19268A>T)
c.1007T>A (p.Ile336Asn)
c.1322T>A (p.Ile441Asn)
c.1277T>A (p.Ile426Asn)
c.1184T>A (p.Ile395Asn)
9g.36223448T>ACA373427404CLTA,GNEc.1429A>T (p.Ile477Phe)
c.1159A>T (p.Ile387Phe)
c.1336A>T (p.Ile446Phe)
c.485+19269T>A (n.485+19269T>A)
c.1006A>T (p.Ile336Phe)
c.1321A>T (p.Ile441Phe)
c.1276A>T (p.Ile426Phe)
c.1183A>T (p.Ile395Phe)
9g.36223448T>CCA373427407CLTA,GNEc.1429A>G (p.Ile477Val)
c.1159A>G (p.Ile387Val)
c.1336A>G (p.Ile446Val)
c.485+19269T>C (n.485+19269T>C)
c.1006A>G (p.Ile336Val)
c.1321A>G (p.Ile441Val)
c.1276A>G (p.Ile426Val)
c.1183A>G (p.Ile395Val)
9g.36223448T>GCA373427405CLTA,GNEc.1429A>C (p.Ile477Leu)
c.1159A>C (p.Ile387Leu)
c.1336A>C (p.Ile446Leu)
c.485+19269T>G (n.485+19269T>G)
c.1006A>C (p.Ile336Leu)
c.1321A>C (p.Ile441Leu)
c.1276A>C (p.Ile426Leu)
c.1183A>C (p.Ile395Leu)
9g.36223449C>ACA373427408CLTA,GNEc.1428G>T (p.Arg476Ser)
c.1158G>T (p.Arg386Ser)
c.1335G>T (p.Arg445Ser)
c.485+19270C>A (n.485+19270C>A)
c.1005G>T (p.Arg335Ser)
c.1320G>T (p.Arg440Ser)
c.1275G>T (p.Arg425Ser)
c.1182G>T (p.Arg394Ser)
9g.36223449C>GCA373427409CLTA,GNEc.1428G>C (p.Arg476Ser)
c.1158G>C (p.Arg386Ser)
c.1335G>C (p.Arg445Ser)
c.485+19270C>G (n.485+19270C>G)
c.1005G>C (p.Arg335Ser)
c.1320G>C (p.Arg440Ser)
c.1275G>C (p.Arg425Ser)
c.1182G>C (p.Arg394Ser)
 COSMIC COSMIC COSMIC
9g.36223449C>TCA464495405CLTA,GNEc.1428G>A (p.Arg476=)
c.1158G>A (p.Arg386=)
c.1335G>A (p.Arg445=)
c.485+19270C>T (n.485+19270C>T)
c.1005G>A (p.Arg335=)
c.1320G>A (p.Arg440=)
c.1275G>A (p.Arg425=)
c.1182G>A (p.Arg394=)
 gnomAD v4
9g.36223450C>ACA373427411CLTA,GNEc.1427G>T (p.Arg476Met)
c.1157G>T (p.Arg386Met)
c.1334G>T (p.Arg445Met)
c.485+19271C>A (n.485+19271C>A)
c.1004G>T (p.Arg335Met)
c.1319G>T (p.Arg440Met)
c.1274G>T (p.Arg425Met)
c.1181G>T (p.Arg394Met)
9g.36223450C=CA1846334451CLTA,GNEc.1427G= (p.Arg476=)
c.1157G= (p.Arg386=)
c.1334G= (p.Arg445=)
c.485+19271C= (n.485+19271C=)
c.1004G= (p.Arg335=)
c.1319G= (p.Arg440=)
c.1274G= (p.Arg425=)
c.1181G= (p.Arg394=)
9g.36223450C>GCA5056501CLTA,GNEc.1427G>C (p.Arg476Thr)
c.1157G>C (p.Arg386Thr)
c.1334G>C (p.Arg445Thr)
c.485+19271C>G (n.485+19271C>G)
c.1004G>C (p.Arg335Thr)
c.1319G>C (p.Arg440Thr)
c.1274G>C (p.Arg425Thr)
c.1181G>C (p.Arg394Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36223450C>TCA192843981CLTA,GNEc.1427G>A (p.Arg476Lys)
c.1157G>A (p.Arg386Lys)
c.1334G>A (p.Arg445Lys)
c.485+19271C>T (n.485+19271C>T)
c.1004G>A (p.Arg335Lys)
c.1319G>A (p.Arg440Lys)
c.1274G>A (p.Arg425Lys)
c.1181G>A (p.Arg394Lys)
 dbSNP gnomAD v3 gnomAD v4
9g.36223451T>ACA373427414CLTA,GNEc.1426A>T (p.Arg476Trp)
c.1156A>T (p.Arg386Trp)
c.1333A>T (p.Arg445Trp)
c.485+19272T>A (n.485+19272T>A)
c.1003A>T (p.Arg335Trp)
c.1318A>T (p.Arg440Trp)
c.1273A>T (p.Arg425Trp)
c.1180A>T (p.Arg394Trp)
9g.36223451T>CCA373427415CLTA,GNEc.1426A>G (p.Arg476Gly)
c.1156A>G (p.Arg386Gly)
c.1333A>G (p.Arg445Gly)
c.485+19272T>C (n.485+19272T>C)
c.1003A>G (p.Arg335Gly)
c.1318A>G (p.Arg440Gly)
c.1273A>G (p.Arg425Gly)
c.1180A>G (p.Arg394Gly)
 gnomAD v4
9g.36223451T>GCA464495406CLTA,GNEc.1426A>C (p.Arg476=)
c.1156A>C (p.Arg386=)
c.1333A>C (p.Arg445=)
c.485+19272T>G (n.485+19272T>G)
c.1003A>C (p.Arg335=)
c.1318A>C (p.Arg440=)
c.1273A>C (p.Arg425=)
c.1180A>C (p.Arg394=)
9g.36223451_36223452insACA2689945895CLTA,GNEc.1425_1426insT (p.Arg476Ter)
c.1155_1156insT (p.Arg386Ter)
c.1332_1333insT (p.Arg445Ter)
c.485+19272_485+19273insA (n.485+19272_485+19273insA)
c.1002_1003insT (p.Arg335Ter)
c.1317_1318insT (p.Arg440Ter)
c.1272_1273insT (p.Arg425Ter)
c.1179_1180insT (p.Arg394Ter)
 gnomAD v4
9g.36223452C>ACA373427417CLTA,GNEc.1425G>T (p.Glu475Asp)
c.1155G>T (p.Glu385Asp)
c.1332G>T (p.Glu444Asp)
c.485+19273C>A (n.485+19273C>A)
c.1002G>T (p.Glu334Asp)
c.1317G>T (p.Glu439Asp)
c.1272G>T (p.Glu424Asp)
c.1179G>T (p.Glu393Asp)
9g.36223452C=CA1846334455CLTA,GNEc.1425G= (p.Glu475=)
c.1155G= (p.Glu385=)
c.1332G= (p.Glu444=)
c.485+19273C= (n.485+19273C=)
c.1002G= (p.Glu334=)
c.1317G= (p.Glu439=)
c.1272G= (p.Glu424=)
c.1179G= (p.Glu393=)
9g.36223452C>GCA373427419CLTA,GNEc.1425G>C (p.Glu475Asp)
c.1155G>C (p.Glu385Asp)
c.1332G>C (p.Glu444Asp)
c.485+19273C>G (n.485+19273C>G)
c.1002G>C (p.Glu334Asp)
c.1317G>C (p.Glu439Asp)
c.1272G>C (p.Glu424Asp)
c.1179G>C (p.Glu393Asp)
 ClinVar dbSNP
9g.36223452C>TCA464495407CLTA,GNEc.1425G>A (p.Glu475=)
c.1155G>A (p.Glu385=)
c.1332G>A (p.Glu444=)
c.485+19273C>T (n.485+19273C>T)
c.1002G>A (p.Glu334=)
c.1317G>A (p.Glu439=)
c.1272G>A (p.Glu424=)
c.1179G>A (p.Glu393=)
9g.36223452_36223457delCA2689945896CLTA,GNEc.1420_1425del (p.Glu474_Glu475del)
c.1150_1155del (p.Glu384_Glu385del)
c.1327_1332del (p.Glu443_Glu444del)
c.485+19273_485+19278del (n.485+19273_485+19278del)
c.997_1002del (p.Glu333_Glu334del)
c.1312_1317del (p.Glu438_Glu439del)
c.1267_1272del (p.Glu423_Glu424del)
c.1174_1179del (p.Glu392_Glu393del)
 gnomAD v4
9g.36223453T>ACA373427420CLTA,GNEc.1424A>T (p.Glu475Val)
c.1154A>T (p.Glu385Val)
c.1331A>T (p.Glu444Val)
c.485+19274T>A (n.485+19274T>A)
c.1001A>T (p.Glu334Val)
c.1316A>T (p.Glu439Val)
c.1271A>T (p.Glu424Val)
c.1178A>T (p.Glu393Val)
9g.36223453T>CCA373427422CLTA,GNEc.1424A>G (p.Glu475Gly)
c.1154A>G (p.Glu385Gly)
c.1331A>G (p.Glu444Gly)
c.485+19274T>C (n.485+19274T>C)
c.1001A>G (p.Glu334Gly)
c.1316A>G (p.Glu439Gly)
c.1271A>G (p.Glu424Gly)
c.1178A>G (p.Glu393Gly)
 dbSNP
9g.36223453T>GCA373427424CLTA,GNEc.1424A>C (p.Glu475Ala)
c.1154A>C (p.Glu385Ala)
c.1331A>C (p.Glu444Ala)
c.485+19274T>G (n.485+19274T>G)
c.1001A>C (p.Glu334Ala)
c.1316A>C (p.Glu439Ala)
c.1271A>C (p.Glu424Ala)
c.1178A>C (p.Glu393Ala)
9g.36223453T=CA1846334486CLTA,GNEc.1424A= (p.Glu475=)
c.1154A= (p.Glu385=)
c.1331A= (p.Glu444=)
c.485+19274T= (n.485+19274T=)
c.1001A= (p.Glu334=)
c.1316A= (p.Glu439=)
c.1271A= (p.Glu424=)
c.1178A= (p.Glu393=)
9g.36223454C>ACA373427426CLTA,GNEc.1423G>T (p.Glu475Ter)
c.1153G>T (p.Glu385Ter)
c.1330G>T (p.Glu444Ter)
c.485+19275C>A (n.485+19275C>A)
c.1000G>T (p.Glu334Ter)
c.1315G>T (p.Glu439Ter)
c.1270G>T (p.Glu424Ter)
c.1177G>T (p.Glu393Ter)
9g.36223454C>GCA373427428CLTA,GNEc.1423G>C (p.Glu475Gln)
c.1153G>C (p.Glu385Gln)
c.1330G>C (p.Glu444Gln)
c.485+19275C>G (n.485+19275C>G)
c.1000G>C (p.Glu334Gln)
c.1315G>C (p.Glu439Gln)
c.1270G>C (p.Glu424Gln)
c.1177G>C (p.Glu393Gln)
9g.36223454C>TCA373427427CLTA,GNEc.1423G>A (p.Glu475Lys)
c.1153G>A (p.Glu385Lys)
c.1330G>A (p.Glu444Lys)
c.485+19275C>T (n.485+19275C>T)
c.1000G>A (p.Glu334Lys)
c.1315G>A (p.Glu439Lys)
c.1270G>A (p.Glu424Lys)
c.1177G>A (p.Glu393Lys)
9g.36223455T>ACA373427429CLTA,GNEc.1422A>T (p.Glu474Asp)
c.1152A>T (p.Glu384Asp)
c.1329A>T (p.Glu443Asp)
c.485+19276T>A (n.485+19276T>A)
c.999A>T (p.Glu333Asp)
c.1314A>T (p.Glu438Asp)
c.1269A>T (p.Glu423Asp)
c.1176A>T (p.Glu392Asp)
9g.36223455T>CCA464495408CLTA,GNEc.1422A>G (p.Glu474=)
c.1152A>G (p.Glu384=)
c.1329A>G (p.Glu443=)
c.485+19276T>C (n.485+19276T>C)
c.999A>G (p.Glu333=)
c.1314A>G (p.Glu438=)
c.1269A>G (p.Glu423=)
c.1176A>G (p.Glu392=)
9g.36223455T>GCA373427430CLTA,GNEc.1422A>C (p.Glu474Asp)
c.1152A>C (p.Glu384Asp)
c.1329A>C (p.Glu443Asp)
c.485+19276T>G (n.485+19276T>G)
c.999A>C (p.Glu333Asp)
c.1314A>C (p.Glu438Asp)
c.1269A>C (p.Glu423Asp)
c.1176A>C (p.Glu392Asp)
 dbSNP gnomAD v2
9g.36223455T=CA1846334491CLTA,GNEc.1422A= (p.Glu474=)
c.1152A= (p.Glu384=)
c.1329A= (p.Glu443=)
c.485+19276T= (n.485+19276T=)
c.999A= (p.Glu333=)
c.1314A= (p.Glu438=)
c.1269A= (p.Glu423=)
c.1176A= (p.Glu392=)
9g.36223456T>ACA373427432CLTA,GNEc.1421A>T (p.Glu474Val)
c.1151A>T (p.Glu384Val)
c.1328A>T (p.Glu443Val)
c.485+19277T>A (n.485+19277T>A)
c.998A>T (p.Glu333Val)
c.1313A>T (p.Glu438Val)
c.1268A>T (p.Glu423Val)
c.1175A>T (p.Glu392Val)
9g.36223456T>CCA373427435CLTA,GNEc.1421A>G (p.Glu474Gly)
c.1151A>G (p.Glu384Gly)
c.1328A>G (p.Glu443Gly)
c.485+19277T>C (n.485+19277T>C)
c.998A>G (p.Glu333Gly)
c.1313A>G (p.Glu438Gly)
c.1268A>G (p.Glu423Gly)
c.1175A>G (p.Glu392Gly)
9g.36223456T>GCA373427437CLTA,GNEc.1421A>C (p.Glu474Ala)
c.1151A>C (p.Glu384Ala)
c.1328A>C (p.Glu443Ala)
c.485+19277T>G (n.485+19277T>G)
c.998A>C (p.Glu333Ala)
c.1313A>C (p.Glu438Ala)
c.1268A>C (p.Glu423Ala)
c.1175A>C (p.Glu392Ala)
9g.36223457C>ACA373427438CLTA,GNEc.1420G>T (p.Glu474Ter)
c.1150G>T (p.Glu384Ter)
c.1327G>T (p.Glu443Ter)
c.485+19278C>A (n.485+19278C>A)
c.997G>T (p.Glu333Ter)
c.1312G>T (p.Glu438Ter)
c.1267G>T (p.Glu423Ter)
c.1174G>T (p.Glu392Ter)
9g.36223457C=CA1846334500CLTA,GNEc.1420G= (p.Glu474=)
c.1150G= (p.Glu384=)
c.1327G= (p.Glu443=)
c.485+19278C= (n.485+19278C=)
c.997G= (p.Glu333=)
c.1312G= (p.Glu438=)
c.1267G= (p.Glu423=)
c.1174G= (p.Glu392=)
9g.36223457C>GCA373427439CLTA,GNEc.1420G>C (p.Glu474Gln)
c.1150G>C (p.Glu384Gln)
c.1327G>C (p.Glu443Gln)
c.485+19278C>G (n.485+19278C>G)
c.997G>C (p.Glu333Gln)
c.1312G>C (p.Glu438Gln)
c.1267G>C (p.Glu423Gln)
c.1174G>C (p.Glu392Gln)
9g.36223457C>TCA373427440CLTA,GNEc.1420G>A (p.Glu474Lys)
c.1150G>A (p.Glu384Lys)
c.1327G>A (p.Glu443Lys)
c.485+19278C>T (n.485+19278C>T)
c.997G>A (p.Glu333Lys)
c.1312G>A (p.Glu438Lys)
c.1267G>A (p.Glu423Lys)
c.1174G>A (p.Glu392Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36223458A>CCA373427442CLTA,GNEc.1419T>G (p.Tyr473Ter)
c.1149T>G (p.Tyr383Ter)
c.1326T>G (p.Tyr442Ter)
c.485+19279A>C (n.485+19279A>C)
c.996T>G (p.Tyr332Ter)
c.1311T>G (p.Tyr437Ter)
c.1266T>G (p.Tyr422Ter)
c.1173T>G (p.Tyr391Ter)
9g.36223458A>GCA464495409CLTA,GNEc.1419T>C (p.Tyr473=)
c.1149T>C (p.Tyr383=)
c.1326T>C (p.Tyr442=)
c.485+19279A>G (n.485+19279A>G)
c.996T>C (p.Tyr332=)
c.1311T>C (p.Tyr437=)
c.1266T>C (p.Tyr422=)
c.1173T>C (p.Tyr391=)
 ClinVar
9g.36223458A>TCA373427444CLTA,GNEc.1419T>A (p.Tyr473Ter)
c.1149T>A (p.Tyr383Ter)
c.1326T>A (p.Tyr442Ter)
c.485+19279A>T (n.485+19279A>T)
c.996T>A (p.Tyr332Ter)
c.1311T>A (p.Tyr437Ter)
c.1266T>A (p.Tyr422Ter)
c.1173T>A (p.Tyr391Ter)
9g.36223459T>ACA373427449CLTA,GNEc.1418A>T (p.Tyr473Phe)
c.1148A>T (p.Tyr383Phe)
c.1325A>T (p.Tyr442Phe)
c.485+19280T>A (n.485+19280T>A)
c.995A>T (p.Tyr332Phe)
c.1310A>T (p.Tyr437Phe)
c.1265A>T (p.Tyr422Phe)
c.1172A>T (p.Tyr391Phe)
9g.36223459T>CCA373427447CLTA,GNEc.1418A>G (p.Tyr473Cys)
c.1148A>G (p.Tyr383Cys)
c.1325A>G (p.Tyr442Cys)
c.485+19280T>C (n.485+19280T>C)
c.995A>G (p.Tyr332Cys)
c.1310A>G (p.Tyr437Cys)
c.1265A>G (p.Tyr422Cys)
c.1172A>G (p.Tyr391Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36223459T>GCA373427445CLTA,GNEc.1418A>C (p.Tyr473Ser)
c.1148A>C (p.Tyr383Ser)
c.1325A>C (p.Tyr442Ser)
c.485+19280T>G (n.485+19280T>G)
c.995A>C (p.Tyr332Ser)
c.1310A>C (p.Tyr437Ser)
c.1265A>C (p.Tyr422Ser)
c.1172A>C (p.Tyr391Ser)
9g.36223459T=CA1846334504CLTA,GNEc.1418A= (p.Tyr473=)
c.1148A= (p.Tyr383=)
c.1325A= (p.Tyr442=)
c.485+19280T= (n.485+19280T=)
c.995A= (p.Tyr332=)
c.1310A= (p.Tyr437=)
c.1265A= (p.Tyr422=)
c.1172A= (p.Tyr391=)
9g.36223460A>CCA373427453CLTA,GNEc.1417T>G (p.Tyr473Asp)
c.1147T>G (p.Tyr383Asp)
c.1324T>G (p.Tyr442Asp)
c.485+19281A>C (n.485+19281A>C)
c.994T>G (p.Tyr332Asp)
c.1309T>G (p.Tyr437Asp)
c.1264T>G (p.Tyr422Asp)
c.1171T>G (p.Tyr391Asp)
9g.36223460A>GCA373427451CLTA,GNEc.1417T>C (p.Tyr473His)
c.1147T>C (p.Tyr383His)
c.1324T>C (p.Tyr442His)
c.485+19281A>G (n.485+19281A>G)
c.994T>C (p.Tyr332His)
c.1309T>C (p.Tyr437His)
c.1264T>C (p.Tyr422His)
c.1171T>C (p.Tyr391His)
9g.36223460A>TCA373427452CLTA,GNEc.1417T>A (p.Tyr473Asn)
c.1147T>A (p.Tyr383Asn)
c.1324T>A (p.Tyr442Asn)
c.485+19281A>T (n.485+19281A>T)
c.994T>A (p.Tyr332Asn)
c.1309T>A (p.Tyr437Asn)
c.1264T>A (p.Tyr422Asn)
c.1171T>A (p.Tyr391Asn)
9g.36223461G>ACA464495410CLTA,GNEc.1416C>T (p.Thr472=)
c.1146C>T (p.Thr382=)
c.1323C>T (p.Thr441=)
c.485+19282G>A (n.485+19282G>A)
c.993C>T (p.Thr331=)
c.1308C>T (p.Thr436=)
c.1263C>T (p.Thr421=)
c.1170C>T (p.Thr390=)
 ClinVar gnomAD v4
9g.36223461G>CCA464495411CLTA,GNEc.1416C>G (p.Thr472=)
c.1146C>G (p.Thr382=)
c.1323C>G (p.Thr441=)
c.485+19282G>C (n.485+19282G>C)
c.993C>G (p.Thr331=)
c.1308C>G (p.Thr436=)
c.1263C>G (p.Thr421=)
c.1170C>G (p.Thr390=)
9g.36223461G>TCA464495412CLTA,GNEc.1416C>A (p.Thr472=)
c.1146C>A (p.Thr382=)
c.1323C>A (p.Thr441=)
c.485+19282G>T (n.485+19282G>T)
c.993C>A (p.Thr331=)
c.1308C>A (p.Thr436=)
c.1263C>A (p.Thr421=)
c.1170C>A (p.Thr390=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
9g.36223462G>ACA373427455CLTA,GNEc.1415C>T (p.Thr472Ile)
c.1145C>T (p.Thr382Ile)
c.1322C>T (p.Thr441Ile)
c.485+19283G>A (n.485+19283G>A)
c.992C>T (p.Thr331Ile)
c.1307C>T (p.Thr436Ile)
c.1262C>T (p.Thr421Ile)
c.1169C>T (p.Thr390Ile)
9g.36223462G>CCA373427457CLTA,GNEc.1415C>G (p.Thr472Ser)
c.1145C>G (p.Thr382Ser)
c.1322C>G (p.Thr441Ser)
c.485+19283G>C (n.485+19283G>C)
c.992C>G (p.Thr331Ser)
c.1307C>G (p.Thr436Ser)
c.1262C>G (p.Thr421Ser)
c.1169C>G (p.Thr390Ser)
 gnomAD v4
9g.36223462G>TCA373427458CLTA,GNEc.1415C>A (p.Thr472Asn)
c.1145C>A (p.Thr382Asn)
c.1322C>A (p.Thr441Asn)
c.485+19283G>T (n.485+19283G>T)
c.992C>A (p.Thr331Asn)
c.1307C>A (p.Thr436Asn)
c.1262C>A (p.Thr421Asn)
c.1169C>A (p.Thr390Asn)
9g.36223463T>ACA373427460CLTA,GNEc.1414A>T (p.Thr472Ser)
c.1144A>T (p.Thr382Ser)
c.1321A>T (p.Thr441Ser)
c.485+19284T>A (n.485+19284T>A)
c.991A>T (p.Thr331Ser)
c.1306A>T (p.Thr436Ser)
c.1261A>T (p.Thr421Ser)
c.1168A>T (p.Thr390Ser)
9g.36223463T>CCA373427461CLTA,GNEc.1414A>G (p.Thr472Ala)
c.1144A>G (p.Thr382Ala)
c.1321A>G (p.Thr441Ala)
c.485+19284T>C (n.485+19284T>C)
c.991A>G (p.Thr331Ala)
c.1306A>G (p.Thr436Ala)
c.1261A>G (p.Thr421Ala)
c.1168A>G (p.Thr390Ala)
9g.36223463T>GCA373427462CLTA,GNEc.1414A>C (p.Thr472Pro)
c.1144A>C (p.Thr382Pro)
c.1321A>C (p.Thr441Pro)
c.485+19284T>G (n.485+19284T>G)
c.991A>C (p.Thr331Pro)
c.1306A>C (p.Thr436Pro)
c.1261A>C (p.Thr421Pro)
c.1168A>C (p.Thr390Pro)
9g.36223464T>ACA373427463CLTA,GNEc.1413A>T (p.Lys471Asn)
c.1143A>T (p.Lys381Asn)
c.1320A>T (p.Lys440Asn)
c.485+19285T>A (n.485+19285T>A)
c.990A>T (p.Lys330Asn)
c.1305A>T (p.Lys435Asn)
c.1260A>T (p.Lys420Asn)
c.1167A>T (p.Lys389Asn)
9g.36223464T>CCA464495413CLTA,GNEc.1413A>G (p.Lys471=)
c.1143A>G (p.Lys381=)
c.1320A>G (p.Lys440=)
c.485+19285T>C (n.485+19285T>C)
c.990A>G (p.Lys330=)
c.1305A>G (p.Lys435=)
c.1260A>G (p.Lys420=)
c.1167A>G (p.Lys389=)
9g.36223464T>GCA373427464CLTA,GNEc.1413A>C (p.Lys471Asn)
c.1143A>C (p.Lys381Asn)
c.1320A>C (p.Lys440Asn)
c.485+19285T>G (n.485+19285T>G)
c.990A>C (p.Lys330Asn)
c.1305A>C (p.Lys435Asn)
c.1260A>C (p.Lys420Asn)
c.1167A>C (p.Lys389Asn)
 dbSNP COSMIC COSMIC COSMIC
9g.36223464T=CA1846334508CLTA,GNEc.1413A= (p.Lys471=)
c.1143A= (p.Lys381=)
c.1320A= (p.Lys440=)
c.485+19285T= (n.485+19285T=)
c.990A= (p.Lys330=)
c.1305A= (p.Lys435=)
c.1260A= (p.Lys420=)
c.1167A= (p.Lys389=)
9g.36223465T>ACA373427466CLTA,GNEc.1412A>T (p.Lys471Ile)
c.1142A>T (p.Lys381Ile)
c.1319A>T (p.Lys440Ile)
c.485+19286T>A (n.485+19286T>A)
c.989A>T (p.Lys330Ile)
c.1304A>T (p.Lys435Ile)
c.1259A>T (p.Lys420Ile)
c.1166A>T (p.Lys389Ile)
9g.36223465T>CCA373427468CLTA,GNEc.1412A>G (p.Lys471Arg)
c.1142A>G (p.Lys381Arg)
c.1319A>G (p.Lys440Arg)
c.485+19286T>C (n.485+19286T>C)
c.989A>G (p.Lys330Arg)
c.1304A>G (p.Lys435Arg)
c.1259A>G (p.Lys420Arg)
c.1166A>G (p.Lys389Arg)
9g.36223465T>GCA5056502CLTA,GNEc.1412A>C (p.Lys471Thr)
c.1142A>C (p.Lys381Thr)
c.1319A>C (p.Lys440Thr)
c.485+19286T>G (n.485+19286T>G)
c.989A>C (p.Lys330Thr)
c.1304A>C (p.Lys435Thr)
c.1259A>C (p.Lys420Thr)
c.1166A>C (p.Lys389Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36223465T=CA1846334516CLTA,GNEc.1412A= (p.Lys471=)
c.1142A= (p.Lys381=)
c.1319A= (p.Lys440=)
c.485+19286T= (n.485+19286T=)
c.989A= (p.Lys330=)
c.1304A= (p.Lys435=)
c.1259A= (p.Lys420=)
c.1166A= (p.Lys389=)
9g.36223466T>ACA373427476CLTA,GNEc.1411A>T (p.Lys471Ter)
c.1141A>T (p.Lys381Ter)
c.1318A>T (p.Lys440Ter)
c.485+19287T>A (n.485+19287T>A)
c.988A>T (p.Lys330Ter)
c.1303A>T (p.Lys435Ter)
c.1258A>T (p.Lys420Ter)
c.1165A>T (p.Lys389Ter)
9g.36223466T>CCA373427473CLTA,GNEc.1411A>G (p.Lys471Glu)
c.1141A>G (p.Lys381Glu)
c.1318A>G (p.Lys440Glu)
c.485+19287T>C (n.485+19287T>C)
c.988A>G (p.Lys330Glu)
c.1303A>G (p.Lys435Glu)
c.1258A>G (p.Lys420Glu)
c.1165A>G (p.Lys389Glu)
9g.36223466T>GCA373427474CLTA,GNEc.1411A>C (p.Lys471Gln)
c.1141A>C (p.Lys381Gln)
c.1318A>C (p.Lys440Gln)
c.485+19287T>G (n.485+19287T>G)
c.988A>C (p.Lys330Gln)
c.1303A>C (p.Lys435Gln)
c.1258A>C (p.Lys420Gln)
c.1165A>C (p.Lys389Gln)
9g.36223467A=CA1846334522CLTA,GNEc.1410T= (p.Pro470=)
c.1140T= (p.Pro380=)
c.1317T= (p.Pro439=)
c.485+19288A= (n.485+19288A=)
c.987T= (p.Pro329=)
c.1302T= (p.Pro434=)
c.1257T= (p.Pro419=)
c.1164T= (p.Pro388=)
9g.36223467A>CCA464495414CLTA,GNEc.1410T>G (p.Pro470=)
c.1140T>G (p.Pro380=)
c.1317T>G (p.Pro439=)
c.485+19288A>C (n.485+19288A>C)
c.987T>G (p.Pro329=)
c.1302T>G (p.Pro434=)
c.1257T>G (p.Pro419=)
c.1164T>G (p.Pro388=)
9g.36223467A>GCA192843991CLTA,GNEc.1410T>C (p.Pro470=)
c.1140T>C (p.Pro380=)
c.1317T>C (p.Pro439=)
c.485+19288A>G (n.485+19288A>G)
c.987T>C (p.Pro329=)
c.1302T>C (p.Pro434=)
c.1257T>C (p.Pro419=)
c.1164T>C (p.Pro388=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.36223467A>TCA464495415CLTA,GNEc.1410T>A (p.Pro470=)
c.1140T>A (p.Pro380=)
c.1317T>A (p.Pro439=)
c.485+19288A>T (n.485+19288A>T)
c.987T>A (p.Pro329=)
c.1302T>A (p.Pro434=)
c.1257T>A (p.Pro419=)
c.1164T>A (p.Pro388=)
9g.36223468G>ACA373427479CLTA,GNEc.1409C>T (p.Pro470Leu)
c.1139C>T (p.Pro380Leu)
c.1316C>T (p.Pro439Leu)
c.485+19289G>A (n.485+19289G>A)
c.986C>T (p.Pro329Leu)
c.1301C>T (p.Pro434Leu)
c.1256C>T (p.Pro419Leu)
c.1163C>T (p.Pro388Leu)
9g.36223468G>CCA373427480CLTA,GNEc.1409C>G (p.Pro470Arg)
c.1139C>G (p.Pro380Arg)
c.1316C>G (p.Pro439Arg)
c.485+19289G>C (n.485+19289G>C)
c.986C>G (p.Pro329Arg)
c.1301C>G (p.Pro434Arg)
c.1256C>G (p.Pro419Arg)
c.1163C>G (p.Pro388Arg)
 dbSNP gnomAD v4
9g.36223468G=CA1846334527CLTA,GNEc.1409C= (p.Pro470=)
c.1139C= (p.Pro380=)
c.1316C= (p.Pro439=)
c.485+19289G= (n.485+19289G=)
c.986C= (p.Pro329=)
c.1301C= (p.Pro434=)
c.1256C= (p.Pro419=)
c.1163C= (p.Pro388=)
9g.36223468G>TCA373427481CLTA,GNEc.1409C>A (p.Pro470His)
c.1139C>A (p.Pro380His)
c.1316C>A (p.Pro439His)
c.485+19289G>T (n.485+19289G>T)
c.986C>A (p.Pro329His)
c.1301C>A (p.Pro434His)
c.1256C>A (p.Pro419His)
c.1163C>A (p.Pro388His)
 gnomAD v4
9g.36223469G>ACA373427483CLTA,GNEc.1408C>T (p.Pro470Ser)
c.1138C>T (p.Pro380Ser)
c.1315C>T (p.Pro439Ser)
c.485+19290G>A (n.485+19290G>A)
c.985C>T (p.Pro329Ser)
c.1300C>T (p.Pro434Ser)
c.1255C>T (p.Pro419Ser)
c.1162C>T (p.Pro388Ser)
 dbSNP gnomAD v2
9g.36223469G>CCA373427485CLTA,GNEc.1408C>G (p.Pro470Ala)
c.1138C>G (p.Pro380Ala)
c.1315C>G (p.Pro439Ala)
c.485+19290G>C (n.485+19290G>C)
c.985C>G (p.Pro329Ala)
c.1300C>G (p.Pro434Ala)
c.1255C>G (p.Pro419Ala)
c.1162C>G (p.Pro388Ala)
9g.36223469G=CA1846334534CLTA,GNEc.1408C= (p.Pro470=)
c.1138C= (p.Pro380=)
c.1315C= (p.Pro439=)
c.485+19290G= (n.485+19290G=)
c.985C= (p.Pro329=)
c.1300C= (p.Pro434=)
c.1255C= (p.Pro419=)
c.1162C= (p.Pro388=)
9g.36223469G>TCA373427487CLTA,GNEc.1408C>A (p.Pro470Thr)
c.1138C>A (p.Pro380Thr)
c.1315C>A (p.Pro439Thr)
c.485+19290G>T (n.485+19290G>T)
c.985C>A (p.Pro329Thr)
c.1300C>A (p.Pro434Thr)
c.1255C>A (p.Pro419Thr)
c.1162C>A (p.Pro388Thr)
9g.36223470A>CCA373427489CLTA,GNEc.1407T>G (p.Asn469Lys)
c.1137T>G (p.Asn379Lys)
c.1314T>G (p.Asn438Lys)
c.485+19291A>C (n.485+19291A>C)
c.984T>G (p.Asn328Lys)
c.1299T>G (p.Asn433Lys)
c.1254T>G (p.Asn418Lys)
c.1161T>G (p.Asn387Lys)
9g.36223470A>GCA464495416CLTA,GNEc.1407T>C (p.Asn469=)
c.1137T>C (p.Asn379=)
c.1314T>C (p.Asn438=)
c.485+19291A>G (n.485+19291A>G)
c.984T>C (p.Asn328=)
c.1299T>C (p.Asn433=)
c.1254T>C (p.Asn418=)
c.1161T>C (p.Asn387=)
 COSMIC COSMIC COSMIC
9g.36223470A>TCA373427490CLTA,GNEc.1407T>A (p.Asn469Lys)
c.1137T>A (p.Asn379Lys)
c.1314T>A (p.Asn438Lys)
c.485+19291A>T (n.485+19291A>T)
c.984T>A (p.Asn328Lys)
c.1299T>A (p.Asn433Lys)
c.1254T>A (p.Asn418Lys)
c.1161T>A (p.Asn387Lys)
9g.36223471T>ACA5056503CLTA,GNEc.1406A>T (p.Asn469Ile)
c.1136A>T (p.Asn379Ile)
c.1313A>T (p.Asn438Ile)
c.485+19292T>A (n.485+19292T>A)
c.983A>T (p.Asn328Ile)
c.1298A>T (p.Asn433Ile)
c.1253A>T (p.Asn418Ile)
c.1160A>T (p.Asn387Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36223471T>CCA373427493CLTA,GNEc.1406A>G (p.Asn469Ser)
c.1136A>G (p.Asn379Ser)
c.1313A>G (p.Asn438Ser)
c.485+19292T>C (n.485+19292T>C)
c.983A>G (p.Asn328Ser)
c.1298A>G (p.Asn433Ser)
c.1253A>G (p.Asn418Ser)
c.1160A>G (p.Asn387Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.36223471T>GCA373427494CLTA,GNEc.1406A>C (p.Asn469Thr)
c.1136A>C (p.Asn379Thr)
c.1313A>C (p.Asn438Thr)
c.485+19292T>G (n.485+19292T>G)
c.983A>C (p.Asn328Thr)
c.1298A>C (p.Asn433Thr)
c.1253A>C (p.Asn418Thr)
c.1160A>C (p.Asn387Thr)
9g.36223471T=CA1846334541CLTA,GNEc.1406A= (p.Asn469=)
c.1136A= (p.Asn379=)
c.1313A= (p.Asn438=)
c.485+19292T= (n.485+19292T=)
c.983A= (p.Asn328=)
c.1298A= (p.Asn433=)
c.1253A= (p.Asn418=)
c.1160A= (p.Asn387=)
9g.36223472T>ACA373427936CLTA,GNEc.1405A>T (p.Asn469Tyr)
c.1135A>T (p.Asn379Tyr)
c.1312A>T (p.Asn438Tyr)
c.485+19293T>A (n.485+19293T>A)
c.982A>T (p.Asn328Tyr)
c.1297A>T (p.Asn433Tyr)
c.1252A>T (p.Asn418Tyr)
c.1159A>T (p.Asn387Tyr)
9g.36223472T>CCA373427937CLTA,GNEc.1405A>G (p.Asn469Asp)
c.1135A>G (p.Asn379Asp)
c.1312A>G (p.Asn438Asp)
c.485+19293T>C (n.485+19293T>C)
c.982A>G (p.Asn328Asp)
c.1297A>G (p.Asn433Asp)
c.1252A>G (p.Asn418Asp)
c.1159A>G (p.Asn387Asp)
 ClinVar dbSNP
9g.36223472T>GCA373427933CLTA,GNEc.1405A>C (p.Asn469His)
c.1135A>C (p.Asn379His)
c.1312A>C (p.Asn438His)
c.485+19293T>G (n.485+19293T>G)
c.982A>C (p.Asn328His)
c.1297A>C (p.Asn433His)
c.1252A>C (p.Asn418His)
c.1159A>C (p.Asn387His)
9g.36223473G>ACA464495418CLTA,GNEc.1404C>T (p.Phe468=)
c.1134C>T (p.Phe378=)
c.1311C>T (p.Phe437=)
c.485+19294G>A (n.485+19294G>A)
c.981C>T (p.Phe327=)
c.1296C>T (p.Phe432=)
c.1251C>T (p.Phe417=)
c.1158C>T (p.Phe386=)
 ClinVar dbSNP gnomAD v4
9g.36223473G>CCA373427939CLTA,GNEc.1404C>G (p.Phe468Leu)
c.1134C>G (p.Phe378Leu)
c.1311C>G (p.Phe437Leu)
c.485+19294G>C (n.485+19294G>C)
c.981C>G (p.Phe327Leu)
c.1296C>G (p.Phe432Leu)
c.1251C>G (p.Phe417Leu)
c.1158C>G (p.Phe386Leu)
9g.36223473G=CA1846334551CLTA,GNEc.1404C= (p.Phe468=)
c.1134C= (p.Phe378=)
c.1311C= (p.Phe437=)
c.485+19294G= (n.485+19294G=)
c.981C= (p.Phe327=)
c.1296C= (p.Phe432=)
c.1251C= (p.Phe417=)
c.1158C= (p.Phe386=)
9g.36223473G>TCA373427940CLTA,GNEc.1404C>A (p.Phe468Leu)
c.1134C>A (p.Phe378Leu)
c.1311C>A (p.Phe437Leu)
c.485+19294G>T (n.485+19294G>T)
c.981C>A (p.Phe327Leu)
c.1296C>A (p.Phe432Leu)
c.1251C>A (p.Phe417Leu)
c.1158C>A (p.Phe386Leu)
9g.36223474A=CA1846334559CLTA,GNEc.1403T= (p.Phe468=)
c.1133T= (p.Phe378=)
c.1310T= (p.Phe437=)
c.485+19295A= (n.485+19295A=)
c.980T= (p.Phe327=)
c.1295T= (p.Phe432=)
c.1250T= (p.Phe417=)
c.1157T= (p.Phe386=)
9g.36223474A>CCA373427942CLTA,GNEc.1403T>G (p.Phe468Cys)
c.1133T>G (p.Phe378Cys)
c.1310T>G (p.Phe437Cys)
c.485+19295A>C (n.485+19295A>C)
c.980T>G (p.Phe327Cys)
c.1295T>G (p.Phe432Cys)
c.1250T>G (p.Phe417Cys)
c.1157T>G (p.Phe386Cys)
9g.36223474A>GCA5056504CLTA,GNEc.1403T>C (p.Phe468Ser)
c.1133T>C (p.Phe378Ser)
c.1310T>C (p.Phe437Ser)
c.485+19295A>G (n.485+19295A>G)
c.980T>C (p.Phe327Ser)
c.1295T>C (p.Phe432Ser)
c.1250T>C (p.Phe417Ser)
c.1157T>C (p.Phe386Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36223474A>TCA373427945CLTA,GNEc.1403T>A (p.Phe468Tyr)
c.1133T>A (p.Phe378Tyr)
c.1310T>A (p.Phe437Tyr)
c.485+19295A>T (n.485+19295A>T)
c.980T>A (p.Phe327Tyr)
c.1295T>A (p.Phe432Tyr)
c.1250T>A (p.Phe417Tyr)
c.1157T>A (p.Phe386Tyr)
9g.36223475A>CCA373427948CLTA,GNEc.1402T>G (p.Phe468Val)
c.1132T>G (p.Phe378Val)
c.1309T>G (p.Phe437Val)
c.485+19296A>C (n.485+19296A>C)
c.979T>G (p.Phe327Val)
c.1294T>G (p.Phe432Val)
c.1249T>G (p.Phe417Val)
c.1156T>G (p.Phe386Val)
 dbSNP
9g.36223475A>GCA373427949CLTA,GNEc.1402T>C (p.Phe468Leu)
c.1132T>C (p.Phe378Leu)
c.1309T>C (p.Phe437Leu)
c.485+19296A>G (n.485+19296A>G)
c.979T>C (p.Phe327Leu)
c.1294T>C (p.Phe432Leu)
c.1249T>C (p.Phe417Leu)
c.1156T>C (p.Phe386Leu)
9g.36223475A>TCA373427950CLTA,GNEc.1402T>A (p.Phe468Ile)
c.1132T>A (p.Phe378Ile)
c.1309T>A (p.Phe437Ile)
c.485+19296A>T (n.485+19296A>T)
c.979T>A (p.Phe327Ile)
c.1294T>A (p.Phe432Ile)
c.1249T>A (p.Phe417Ile)
c.1156T>A (p.Phe386Ile)
9g.36223476C>ACA373427952CLTA,GNEc.1401G>T (p.Gln467His)
c.1131G>T (p.Gln377His)
c.1308G>T (p.Gln436His)
c.485+19297C>A (n.485+19297C>A)
c.978G>T (p.Gln326His)
c.1293G>T (p.Gln431His)
c.1248G>T (p.Gln416His)
c.1155G>T (p.Gln385His)
9g.36223476C>GCA373427951CLTA,GNEc.1401G>C (p.Gln467His)
c.1131G>C (p.Gln377His)
c.1308G>C (p.Gln436His)
c.485+19297C>G (n.485+19297C>G)
c.978G>C (p.Gln326His)
c.1293G>C (p.Gln431His)
c.1248G>C (p.Gln416His)
c.1155G>C (p.Gln385His)
9g.36223476C>TCA464495420CLTA,GNEc.1401G>A (p.Gln467=)
c.1131G>A (p.Gln377=)
c.1308G>A (p.Gln436=)
c.485+19297C>T (n.485+19297C>T)
c.978G>A (p.Gln326=)
c.1293G>A (p.Gln431=)
c.1248G>A (p.Gln416=)
c.1155G>A (p.Gln385=)
 ClinVar dbSNP
9g.36223477delCA2579338452CLTA,GNEc.1400del (p.Gln467ArgfsTer13)
c.1130del (p.Gln377ArgfsTer13)
c.1307del (p.Gln436ArgfsTer13)
c.485+19298del (n.485+19298del)
c.977del (p.Gln326ArgfsTer13)
c.1292del (p.Gln431ArgfsTer13)
c.1247del (p.Gln416ArgfsTer13)
c.1154del (p.Gln385ArgfsTer13)
9g.36223477T>ACA373427953CLTA,GNEc.1400A>T (p.Gln467Leu)
c.1130A>T (p.Gln377Leu)
c.1307A>T (p.Gln436Leu)
c.485+19298T>A (n.485+19298T>A)
c.977A>T (p.Gln326Leu)
c.1292A>T (p.Gln431Leu)
c.1247A>T (p.Gln416Leu)
c.1154A>T (p.Gln385Leu)
9g.36223477T>CCA373427954CLTA,GNEc.1400A>G (p.Gln467Arg)
c.1130A>G (p.Gln377Arg)
c.1307A>G (p.Gln436Arg)
c.485+19298T>C (n.485+19298T>C)
c.977A>G (p.Gln326Arg)
c.1292A>G (p.Gln431Arg)
c.1247A>G (p.Gln416Arg)
c.1154A>G (p.Gln385Arg)
9g.36223477T>GCA373427955CLTA,GNEc.1400A>C (p.Gln467Pro)
c.1130A>C (p.Gln377Pro)
c.1307A>C (p.Gln436Pro)
c.485+19298T>G (n.485+19298T>G)
c.977A>C (p.Gln326Pro)
c.1292A>C (p.Gln431Pro)
c.1247A>C (p.Gln416Pro)
c.1154A>C (p.Gln385Pro)
9g.36223478_36223481delCA2783550410CLTA,GNEc.1397_1400del (p.Thr466SerfsTer13)
c.1127_1130del (p.Thr376SerfsTer13)
c.1304_1307del (p.Thr435SerfsTer13)
c.485+19299_485+19302del (n.485+19299_485+19302del)
c.974_977del (p.Thr325SerfsTer13)
c.1289_1292del (p.Thr430SerfsTer13)
c.1244_1247del (p.Thr415SerfsTer13)
c.1151_1154del (p.Thr384SerfsTer13)
9g.36223478G>ACA274118CLTA,GNEc.1399C>T (p.Gln467Ter)
c.1129C>T (p.Gln377Ter)
c.1306C>T (p.Gln436Ter)
c.485+19299G>A (n.485+19299G>A)
c.976C>T (p.Gln326Ter)
c.1291C>T (p.Gln431Ter)
c.1246C>T (p.Gln416Ter)
c.1153C>T (p.Gln385Ter)
 ClinVar dbSNP gnomAD v2
9g.36223478G>CCA373427957CLTA,GNEc.1399C>G (p.Gln467Glu)
c.1129C>G (p.Gln377Glu)
c.1306C>G (p.Gln436Glu)
c.485+19299G>C (n.485+19299G>C)
c.976C>G (p.Gln326Glu)
c.1291C>G (p.Gln431Glu)
c.1246C>G (p.Gln416Glu)
c.1153C>G (p.Gln385Glu)
9g.36223478G=CA1846334564CLTA,GNEc.1399C= (p.Gln467=)
c.1129C= (p.Gln377=)
c.1306C= (p.Gln436=)
c.485+19299G= (n.485+19299G=)
c.976C= (p.Gln326=)
c.1291C= (p.Gln431=)
c.1246C= (p.Gln416=)
c.1153C= (p.Gln385=)
9g.36223478G>TCA373427958CLTA,GNEc.1399C>A (p.Gln467Lys)
c.1129C>A (p.Gln377Lys)
c.1306C>A (p.Gln436Lys)
c.485+19299G>T (n.485+19299G>T)
c.976C>A (p.Gln326Lys)
c.1291C>A (p.Gln431Lys)
c.1246C>A (p.Gln416Lys)
c.1153C>A (p.Gln385Lys)
9g.36223479delCA2580080535CLTA,GNEc.1398del (p.Gln467SerfsTer13)
c.1128del (p.Gln377SerfsTer13)
c.1305del (p.Gln436SerfsTer13)
c.485+19300del (n.485+19300del)
c.975del (p.Gln326SerfsTer13)
c.1290del (p.Gln431SerfsTer13)
c.1245del (p.Gln416SerfsTer13)
c.1152del (p.Gln385SerfsTer13)
 ClinVar
9g.36223479A>CCA464495423CLTA,GNEc.1398T>G (p.Thr466=)
c.1128T>G (p.Thr376=)
c.1305T>G (p.Thr435=)
c.485+19300A>C (n.485+19300A>C)
c.975T>G (p.Thr325=)
c.1290T>G (p.Thr430=)
c.1245T>G (p.Thr415=)
c.1152T>G (p.Thr384=)
9g.36223479A>GCA464495424CLTA,GNEc.1398T>C (p.Thr466=)
c.1128T>C (p.Thr376=)
c.1305T>C (p.Thr435=)
c.485+19300A>G (n.485+19300A>G)
c.975T>C (p.Thr325=)
c.1290T>C (p.Thr430=)
c.1245T>C (p.Thr415=)
c.1152T>C (p.Thr384=)
9g.36223479A>TCA464495425CLTA,GNEc.1398T>A (p.Thr466=)
c.1128T>A (p.Thr376=)
c.1305T>A (p.Thr435=)
c.485+19300A>T (n.485+19300A>T)
c.975T>A (p.Thr325=)
c.1290T>A (p.Thr430=)
c.1245T>A (p.Thr415=)
c.1152T>A (p.Thr384=)
9g.36223480G>ACA373427960CLTA,GNEc.1397C>T (p.Thr466Ile)
c.1127C>T (p.Thr376Ile)
c.1304C>T (p.Thr435Ile)
c.485+19301G>A (n.485+19301G>A)
c.974C>T (p.Thr325Ile)
c.1289C>T (p.Thr430Ile)
c.1244C>T (p.Thr415Ile)
c.1151C>T (p.Thr384Ile)
 ClinVar dbSNP
9g.36223480G>CCA373427963CLTA,GNEc.1397C>G (p.Thr466Ser)
c.1127C>G (p.Thr376Ser)
c.1304C>G (p.Thr435Ser)
c.485+19301G>C (n.485+19301G>C)
c.974C>G (p.Thr325Ser)
c.1289C>G (p.Thr430Ser)
c.1244C>G (p.Thr415Ser)
c.1151C>G (p.Thr384Ser)
9g.36223480G=CA1846334574CLTA,GNEc.1397C= (p.Thr466=)
c.1127C= (p.Thr376=)
c.1304C= (p.Thr435=)
c.485+19301G= (n.485+19301G=)
c.974C= (p.Thr325=)
c.1289C= (p.Thr430=)
c.1244C= (p.Thr415=)
c.1151C= (p.Thr384=)
9g.36223480G>TCA373427961CLTA,GNEc.1397C>A (p.Thr466Asn)
c.1127C>A (p.Thr376Asn)
c.1304C>A (p.Thr435Asn)
c.485+19301G>T (n.485+19301G>T)
c.974C>A (p.Thr325Asn)
c.1289C>A (p.Thr430Asn)
c.1244C>A (p.Thr415Asn)
c.1151C>A (p.Thr384Asn)
9g.36223481T>ACA373427964CLTA,GNEc.1396A>T (p.Thr466Ser)
c.1126A>T (p.Thr376Ser)
c.1303A>T (p.Thr435Ser)
c.485+19302T>A (n.485+19302T>A)
c.973A>T (p.Thr325Ser)
c.1288A>T (p.Thr430Ser)
c.1243A>T (p.Thr415Ser)
c.1150A>T (p.Thr384Ser)
9g.36223481T>CCA373427966CLTA,GNEc.1396A>G (p.Thr466Ala)
c.1126A>G (p.Thr376Ala)
c.1303A>G (p.Thr435Ala)
c.485+19302T>C (n.485+19302T>C)
c.973A>G (p.Thr325Ala)
c.1288A>G (p.Thr430Ala)
c.1243A>G (p.Thr415Ala)
c.1150A>G (p.Thr384Ala)
9g.36223481T>GCA373427967CLTA,GNEc.1396A>C (p.Thr466Pro)
c.1126A>C (p.Thr376Pro)
c.1303A>C (p.Thr435Pro)
c.485+19302T>G (n.485+19302T>G)
c.973A>C (p.Thr325Pro)
c.1288A>C (p.Thr430Pro)
c.1243A>C (p.Thr415Pro)
c.1150A>C (p.Thr384Pro)
9g.36223482A=CA1846334591CLTA,GNEc.1395T= (p.Tyr465=)
c.1125T= (p.Tyr375=)
c.1302T= (p.Tyr434=)
c.485+19303A= (n.485+19303A=)
c.972T= (p.Tyr324=)
c.1287T= (p.Tyr429=)
c.1242T= (p.Tyr414=)
c.1149T= (p.Tyr383=)
9g.36223482A>CCA373427968CLTA,GNEc.1395T>G (p.Tyr465Ter)
c.1125T>G (p.Tyr375Ter)
c.1302T>G (p.Tyr434Ter)
c.485+19303A>C (n.485+19303A>C)
c.972T>G (p.Tyr324Ter)
c.1287T>G (p.Tyr429Ter)
c.1242T>G (p.Tyr414Ter)
c.1149T>G (p.Tyr383Ter)
9g.36223482A>GCA10606834CLTA,GNEc.1395T>C (p.Tyr465=)
c.1125T>C (p.Tyr375=)
c.1302T>C (p.Tyr434=)
c.485+19303A>G (n.485+19303A>G)
c.972T>C (p.Tyr324=)
c.1287T>C (p.Tyr429=)
c.1242T>C (p.Tyr414=)
c.1149T>C (p.Tyr383=)
 ClinVar dbSNP gnomAD v4
9g.36223482A>TCA373427971CLTA,GNEc.1395T>A (p.Tyr465Ter)
c.1125T>A (p.Tyr375Ter)
c.1302T>A (p.Tyr434Ter)
c.485+19303A>T (n.485+19303A>T)
c.972T>A (p.Tyr324Ter)
c.1287T>A (p.Tyr429Ter)
c.1242T>A (p.Tyr414Ter)
c.1149T>A (p.Tyr383Ter)
9g.36223483T>ACA373427972CLTA,GNEc.1394A>T (p.Tyr465Phe)
c.1124A>T (p.Tyr375Phe)
c.1301A>T (p.Tyr434Phe)
c.485+19304T>A (n.485+19304T>A)
c.971A>T (p.Tyr324Phe)
c.1286A>T (p.Tyr429Phe)
c.1241A>T (p.Tyr414Phe)
c.1148A>T (p.Tyr383Phe)
9g.36223483T>CCA373427973CLTA,GNEc.1394A>G (p.Tyr465Cys)
c.1124A>G (p.Tyr375Cys)
c.1301A>G (p.Tyr434Cys)
c.485+19304T>C (n.485+19304T>C)
c.971A>G (p.Tyr324Cys)
c.1286A>G (p.Tyr429Cys)
c.1241A>G (p.Tyr414Cys)
c.1148A>G (p.Tyr383Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36223483T>GCA373427974CLTA,GNEc.1394A>C (p.Tyr465Ser)
c.1124A>C (p.Tyr375Ser)
c.1301A>C (p.Tyr434Ser)
c.485+19304T>G (n.485+19304T>G)
c.971A>C (p.Tyr324Ser)
c.1286A>C (p.Tyr429Ser)
c.1241A>C (p.Tyr414Ser)
c.1148A>C (p.Tyr383Ser)
9g.36223483T=CA1846334600CLTA,GNEc.1394A= (p.Tyr465=)
c.1124A= (p.Tyr375=)
c.1301A= (p.Tyr434=)
c.485+19304T= (n.485+19304T=)
c.971A= (p.Tyr324=)
c.1286A= (p.Tyr429=)
c.1241A= (p.Tyr414=)
c.1148A= (p.Tyr383=)
9g.36223484A=CA1846334625CLTA,GNEc.1393T= (p.Tyr465=)
c.1123T= (p.Tyr375=)
c.1300T= (p.Tyr434=)
c.485+19305A= (n.485+19305A=)
c.970T= (p.Tyr324=)
c.1285T= (p.Tyr429=)
c.1240T= (p.Tyr414=)
c.1147T= (p.Tyr383=)
9g.36223484A>CCA373427978CLTA,GNEc.1393T>G (p.Tyr465Asp)
c.1123T>G (p.Tyr375Asp)
c.1300T>G (p.Tyr434Asp)
c.485+19305A>C (n.485+19305A>C)
c.970T>G (p.Tyr324Asp)
c.1285T>G (p.Tyr429Asp)
c.1240T>G (p.Tyr414Asp)
c.1147T>G (p.Tyr383Asp)
9g.36223484A>GCA373427980CLTA,GNEc.1393T>C (p.Tyr465His)
c.1123T>C (p.Tyr375His)
c.1300T>C (p.Tyr434His)
c.485+19305A>G (n.485+19305A>G)
c.970T>C (p.Tyr324His)
c.1285T>C (p.Tyr429His)
c.1240T>C (p.Tyr414His)
c.1147T>C (p.Tyr383His)
9g.36223484A>TCA5056505CLTA,GNEc.1393T>A (p.Tyr465Asn)
c.1123T>A (p.Tyr375Asn)
c.1300T>A (p.Tyr434Asn)
c.485+19305A>T (n.485+19305A>T)
c.970T>A (p.Tyr324Asn)
c.1285T>A (p.Tyr429Asn)
c.1240T>A (p.Tyr414Asn)
c.1147T>A (p.Tyr383Asn)
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.36223484_36223487delinsACTTCA1846334629CLTA,GNEc.1390_1393delinsAAGT (p.Lys464=)
c.1120_1123delinsAAGT (p.Lys374=)
c.1297_1300delinsAAGT (p.Lys433=)
c.485+19305_485+19308delinsACTT (n.485+19305_485+19308delinsACTT)
c.967_970delinsAAGT (p.Lys323=)
c.1282_1285delinsAAGT (p.Lys428=)
c.1237_1240delinsAAGT (p.Lys413=)
c.1144_1147delinsAAGT (p.Lys382=)
9g.36223485C>ACA373427985CLTA,GNEc.1392G>T (p.Lys464Asn)
c.1122G>T (p.Lys374Asn)
c.1299G>T (p.Lys433Asn)
c.485+19306C>A (n.485+19306C>A)
c.969G>T (p.Lys323Asn)
c.1284G>T (p.Lys428Asn)
c.1239G>T (p.Lys413Asn)
c.1146G>T (p.Lys382Asn)
9g.36223485C>GCA373427986CLTA,GNEc.1392G>C (p.Lys464Asn)
c.1122G>C (p.Lys374Asn)
c.1299G>C (p.Lys433Asn)
c.485+19306C>G (n.485+19306C>G)
c.969G>C (p.Lys323Asn)
c.1284G>C (p.Lys428Asn)
c.1239G>C (p.Lys413Asn)
c.1146G>C (p.Lys382Asn)
9g.36223485C>TCA464495429CLTA,GNEc.1392G>A (p.Lys464=)
c.1122G>A (p.Lys374=)
c.1299G>A (p.Lys433=)
c.485+19306C>T (n.485+19306C>T)
c.969G>A (p.Lys323=)
c.1284G>A (p.Lys428=)
c.1239G>A (p.Lys413=)
c.1146G>A (p.Lys382=)
9g.36223488_36223490delCA587787344CLTA,GNEc.1390_1392del (p.Lys464del)
c.1120_1122del (p.Lys374del)
c.1297_1299del (p.Lys433del)
c.485+19309_485+19311del (n.485+19309_485+19311del)
c.967_969del (p.Lys323del)
c.1282_1284del (p.Lys428del)
c.1237_1239del (p.Lys413del)
c.1144_1146del (p.Lys382del)
 dbSNP gnomAD v2 gnomAD v4
9g.36223486T>ACA373427991CLTA,GNEc.1391A>T (p.Lys464Met)
c.1121A>T (p.Lys374Met)
c.1298A>T (p.Lys433Met)
c.485+19307T>A (n.485+19307T>A)
c.968A>T (p.Lys323Met)
c.1283A>T (p.Lys428Met)
c.1238A>T (p.Lys413Met)
c.1145A>T (p.Lys382Met)
9g.36223486T>CCA373427993CLTA,GNEc.1391A>G (p.Lys464Arg)
c.1121A>G (p.Lys374Arg)
c.1298A>G (p.Lys433Arg)
c.485+19307T>C (n.485+19307T>C)
c.968A>G (p.Lys323Arg)
c.1283A>G (p.Lys428Arg)
c.1238A>G (p.Lys413Arg)
c.1145A>G (p.Lys382Arg)
9g.36223486T>GCA373427995CLTA,GNEc.1391A>C (p.Lys464Thr)
c.1121A>C (p.Lys374Thr)
c.1298A>C (p.Lys433Thr)
c.485+19307T>G (n.485+19307T>G)
c.968A>C (p.Lys323Thr)
c.1283A>C (p.Lys428Thr)
c.1238A>C (p.Lys413Thr)
c.1145A>C (p.Lys382Thr)
9g.36223487T>ACA373427996CLTA,GNEc.1390A>T (p.Lys464Ter)
c.1120A>T (p.Lys374Ter)
c.1297A>T (p.Lys433Ter)
c.485+19308T>A (n.485+19308T>A)
c.967A>T (p.Lys323Ter)
c.1282A>T (p.Lys428Ter)
c.1237A>T (p.Lys413Ter)
c.1144A>T (p.Lys382Ter)
9g.36223487T>CCA373427997CLTA,GNEc.1390A>G (p.Lys464Glu)
c.1120A>G (p.Lys374Glu)
c.1297A>G (p.Lys433Glu)
c.485+19308T>C (n.485+19308T>C)
c.967A>G (p.Lys323Glu)
c.1282A>G (p.Lys428Glu)
c.1237A>G (p.Lys413Glu)
c.1144A>G (p.Lys382Glu)
9g.36223487T>GCA373427998CLTA,GNEc.1390A>C (p.Lys464Gln)
c.1120A>C (p.Lys374Gln)
c.1297A>C (p.Lys433Gln)
c.485+19308T>G (n.485+19308T>G)
c.967A>C (p.Lys323Gln)
c.1282A>C (p.Lys428Gln)
c.1237A>C (p.Lys413Gln)
c.1144A>C (p.Lys382Gln)
9g.36223488C>ACA373427999CLTA,GNEc.1389G>T (p.Lys463Asn)
c.1119G>T (p.Lys373Asn)
c.1296G>T (p.Lys432Asn)
c.485+19309C>A (n.485+19309C>A)
c.966G>T (p.Lys322Asn)
c.1281G>T (p.Lys427Asn)
c.1236G>T (p.Lys412Asn)
c.1143G>T (p.Lys381Asn)
9g.36223488C>GCA373428000CLTA,GNEc.1389G>C (p.Lys463Asn)
c.1119G>C (p.Lys373Asn)
c.1296G>C (p.Lys432Asn)
c.485+19309C>G (n.485+19309C>G)
c.966G>C (p.Lys322Asn)
c.1281G>C (p.Lys427Asn)
c.1236G>C (p.Lys412Asn)
c.1143G>C (p.Lys381Asn)
9g.36223488C>TCA464495433CLTA,GNEc.1389G>A (p.Lys463=)
c.1119G>A (p.Lys373=)
c.1296G>A (p.Lys432=)
c.485+19309C>T (n.485+19309C>T)
c.966G>A (p.Lys322=)
c.1281G>A (p.Lys427=)
c.1236G>A (p.Lys412=)
c.1143G>A (p.Lys381=)
9g.36223489T>ACA373428001CLTA,GNEc.1388A>T (p.Lys463Met)
c.1118A>T (p.Lys373Met)
c.1295A>T (p.Lys432Met)
c.485+19310T>A (n.485+19310T>A)
c.965A>T (p.Lys322Met)
c.1280A>T (p.Lys427Met)
c.1235A>T (p.Lys412Met)
c.1142A>T (p.Lys381Met)
9g.36223489T>CCA373428003CLTA,GNEc.1388A>G (p.Lys463Arg)
c.1118A>G (p.Lys373Arg)
c.1295A>G (p.Lys432Arg)
c.485+19310T>C (n.485+19310T>C)
c.965A>G (p.Lys322Arg)
c.1280A>G (p.Lys427Arg)
c.1235A>G (p.Lys412Arg)
c.1142A>G (p.Lys381Arg)
9g.36223489T>GCA373428005CLTA,GNEc.1388A>C (p.Lys463Thr)
c.1118A>C (p.Lys373Thr)
c.1295A>C (p.Lys432Thr)
c.485+19310T>G (n.485+19310T>G)
c.965A>C (p.Lys322Thr)
c.1280A>C (p.Lys427Thr)
c.1235A>C (p.Lys412Thr)
c.1142A>C (p.Lys381Thr)
9g.36223490delCA2689945904CLTA,GNEc.1388del (p.Lys463ArgfsTer17)
c.1118del (p.Lys373ArgfsTer17)
c.1295del (p.Lys432ArgfsTer17)
c.485+19311del (n.485+19311del)
c.965del (p.Lys322ArgfsTer17)
c.1280del (p.Lys427ArgfsTer17)
c.1235del (p.Lys412ArgfsTer17)
c.1142del (p.Lys381ArgfsTer17)
 gnomAD v4
9g.36223490T>ACA373428010CLTA,GNEc.1387A>T (p.Lys463Ter)
c.1117A>T (p.Lys373Ter)
c.1294A>T (p.Lys432Ter)
c.485+19311T>A (n.485+19311T>A)
c.964A>T (p.Lys322Ter)
c.1279A>T (p.Lys427Ter)
c.1234A>T (p.Lys412Ter)
c.1141A>T (p.Lys381Ter)
 ClinVar dbSNP
9g.36223490T>CCA373428011CLTA,GNEc.1387A>G (p.Lys463Glu)
c.1117A>G (p.Lys373Glu)
c.1294A>G (p.Lys432Glu)
c.485+19311T>C (n.485+19311T>C)
c.964A>G (p.Lys322Glu)
c.1279A>G (p.Lys427Glu)
c.1234A>G (p.Lys412Glu)
c.1141A>G (p.Lys381Glu)
9g.36223490T>GCA373428013CLTA,GNEc.1387A>C (p.Lys463Gln)
c.1117A>C (p.Lys373Gln)
c.1294A>C (p.Lys432Gln)
c.485+19311T>G (n.485+19311T>G)
c.964A>C (p.Lys322Gln)
c.1279A>C (p.Lys427Gln)
c.1234A>C (p.Lys412Gln)
c.1141A>C (p.Lys381Gln)
9g.36223490T=CA1846334644CLTA,GNEc.1387A= (p.Lys463=)
c.1117A= (p.Lys373=)
c.1294A= (p.Lys432=)
c.485+19311T= (n.485+19311T=)
c.964A= (p.Lys322=)
c.1279A= (p.Lys427=)
c.1234A= (p.Lys412=)
c.1141A= (p.Lys381=)
9g.36223491A=CA1846334652CLTA,GNEc.1386T= (p.Val462=)
c.1116T= (p.Val372=)
c.1293T= (p.Val431=)
c.485+19312A= (n.485+19312A=)
c.963T= (p.Val321=)
c.1278T= (p.Val426=)
c.1233T= (p.Val411=)
c.1140T= (p.Val380=)
9g.36223491A>CCA464495436CLTA,GNEc.1386T>G (p.Val462=)
c.1116T>G (p.Val372=)
c.1293T>G (p.Val431=)
c.485+19312A>C (n.485+19312A>C)
c.963T>G (p.Val321=)
c.1278T>G (p.Val426=)
c.1233T>G (p.Val411=)
c.1140T>G (p.Val380=)
9g.36223491A>GCA464495437CLTA,GNEc.1386T>C (p.Val462=)
c.1116T>C (p.Val372=)
c.1293T>C (p.Val431=)
c.485+19312A>G (n.485+19312A>G)
c.963T>C (p.Val321=)
c.1278T>C (p.Val426=)
c.1233T>C (p.Val411=)
c.1140T>C (p.Val380=)
9g.36223491A>TCA5056506CLTA,GNEc.1386T>A (p.Val462=)
c.1116T>A (p.Val372=)
c.1293T>A (p.Val431=)
c.485+19312A>T (n.485+19312A>T)
c.963T>A (p.Val321=)
c.1278T>A (p.Val426=)
c.1233T>A (p.Val411=)
c.1140T>A (p.Val380=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36223492delCA2689945905CLTA,GNEc.1386del (p.Lys463ArgfsTer17)
c.1116del (p.Lys373ArgfsTer17)
c.1293del (p.Lys432ArgfsTer17)
c.485+19313del (n.485+19313del)
c.963del (p.Lys322ArgfsTer17)
c.1278del (p.Lys427ArgfsTer17)
c.1233del (p.Lys412ArgfsTer17)
c.1140del (p.Lys381ArgfsTer17)
 gnomAD v4
9g.36223492A>CCA373428015CLTA,GNEc.1385T>G (p.Val462Gly)
c.1115T>G (p.Val372Gly)
c.1292T>G (p.Val431Gly)
c.485+19313A>C (n.485+19313A>C)
c.962T>G (p.Val321Gly)
c.1277T>G (p.Val426Gly)
c.1232T>G (p.Val411Gly)
c.1139T>G (p.Val380Gly)
9g.36223492A>GCA373428016CLTA,GNEc.1385T>C (p.Val462Ala)
c.1115T>C (p.Val372Ala)
c.1292T>C (p.Val431Ala)
c.485+19313A>G (n.485+19313A>G)
c.962T>C (p.Val321Ala)
c.1277T>C (p.Val426Ala)
c.1232T>C (p.Val411Ala)
c.1139T>C (p.Val380Ala)
 gnomAD v4
9g.36223492A>TCA373428017CLTA,GNEc.1385T>A (p.Val462Asp)
c.1115T>A (p.Val372Asp)
c.1292T>A (p.Val431Asp)
c.485+19313A>T (n.485+19313A>T)
c.962T>A (p.Val321Asp)
c.1277T>A (p.Val426Asp)
c.1232T>A (p.Val411Asp)
c.1139T>A (p.Val380Asp)
9g.36223493C>ACA373428019CLTA,GNEc.1384G>T (p.Val462Phe)
c.1114G>T (p.Val372Phe)
c.1291G>T (p.Val431Phe)
c.485+19314C>A (n.485+19314C>A)
c.961G>T (p.Val321Phe)
c.1276G>T (p.Val426Phe)
c.1231G>T (p.Val411Phe)
c.1138G>T (p.Val380Phe)
9g.36223493C=CA1846334657CLTA,GNEc.1384G= (p.Val462=)
c.1114G= (p.Val372=)
c.1291G= (p.Val431=)
c.485+19314C= (n.485+19314C=)
c.961G= (p.Val321=)
c.1276G= (p.Val426=)
c.1231G= (p.Val411=)
c.1138G= (p.Val380=)
9g.36223493C>GCA373428021CLTA,GNEc.1384G>C (p.Val462Leu)
c.1114G>C (p.Val372Leu)
c.1291G>C (p.Val431Leu)
c.485+19314C>G (n.485+19314C>G)
c.961G>C (p.Val321Leu)
c.1276G>C (p.Val426Leu)
c.1231G>C (p.Val411Leu)
c.1138G>C (p.Val380Leu)
9g.36223493C>TCA373428023CLTA,GNEc.1384G>A (p.Val462Ile)
c.1114G>A (p.Val372Ile)
c.1291G>A (p.Val431Ile)
c.485+19314C>T (n.485+19314C>T)
c.961G>A (p.Val321Ile)
c.1276G>A (p.Val426Ile)
c.1231G>A (p.Val411Ile)
c.1138G>A (p.Val380Ile)
 dbSNP
9g.36223494T>ACA464495440CLTA,GNEc.1383A>T (p.Ile461=)
c.1113A>T (p.Ile371=)
c.1290A>T (p.Ile430=)
c.485+19315T>A (n.485+19315T>A)
c.960A>T (p.Ile320=)
c.1275A>T (p.Ile425=)
c.1230A>T (p.Ile410=)
c.1137A>T (p.Ile379=)
9g.36223494T>CCA373428027CLTA,GNEc.1383A>G (p.Ile461Met)
c.1113A>G (p.Ile371Met)
c.1290A>G (p.Ile430Met)
c.485+19315T>C (n.485+19315T>C)
c.960A>G (p.Ile320Met)
c.1275A>G (p.Ile425Met)
c.1230A>G (p.Ile410Met)
c.1137A>G (p.Ile379Met)
9g.36223494T>GCA464495441CLTA,GNEc.1383A>C (p.Ile461=)
c.1113A>C (p.Ile371=)
c.1290A>C (p.Ile430=)
c.485+19315T>G (n.485+19315T>G)
c.960A>C (p.Ile320=)
c.1275A>C (p.Ile425=)
c.1230A>C (p.Ile410=)
c.1137A>C (p.Ile379=)
9g.36223495A>CCA373428029CLTA,GNEc.1382T>G (p.Ile461Arg)
c.1112T>G (p.Ile371Arg)
c.1289T>G (p.Ile430Arg)
c.485+19316A>C (n.485+19316A>C)
c.959T>G (p.Ile320Arg)
c.1274T>G (p.Ile425Arg)
c.1229T>G (p.Ile410Arg)
c.1136T>G (p.Ile379Arg)
9g.36223495A>GCA373428031CLTA,GNEc.1382T>C (p.Ile461Thr)
c.1112T>C (p.Ile371Thr)
c.1289T>C (p.Ile430Thr)
c.485+19316A>G (n.485+19316A>G)
c.959T>C (p.Ile320Thr)
c.1274T>C (p.Ile425Thr)
c.1229T>C (p.Ile410Thr)
c.1136T>C (p.Ile379Thr)
9g.36223495A>TCA373428033CLTA,GNEc.1382T>A (p.Ile461Lys)
c.1112T>A (p.Ile371Lys)
c.1289T>A (p.Ile430Lys)
c.485+19316A>T (n.485+19316A>T)
c.959T>A (p.Ile320Lys)
c.1274T>A (p.Ile425Lys)
c.1229T>A (p.Ile410Lys)
c.1136T>A (p.Ile379Lys)
9g.36223496T>ACA373428035CLTA,GNEc.1381A>T (p.Ile461Leu)
c.1111A>T (p.Ile371Leu)
c.1288A>T (p.Ile430Leu)
c.485+19317T>A (n.485+19317T>A)
c.958A>T (p.Ile320Leu)
c.1273A>T (p.Ile425Leu)
c.1228A>T (p.Ile410Leu)
c.1135A>T (p.Ile379Leu)
9g.36223496T>CCA373428040CLTA,GNEc.1381A>G (p.Ile461Val)
c.1111A>G (p.Ile371Val)
c.1288A>G (p.Ile430Val)
c.485+19317T>C (n.485+19317T>C)
c.958A>G (p.Ile320Val)
c.1273A>G (p.Ile425Val)
c.1228A>G (p.Ile410Val)
c.1135A>G (p.Ile379Val)
 gnomAD v4
9g.36223496T>GCA373428042CLTA,GNEc.1381A>C (p.Ile461Leu)
c.1111A>C (p.Ile371Leu)
c.1288A>C (p.Ile430Leu)
c.485+19317T>G (n.485+19317T>G)
c.958A>C (p.Ile320Leu)
c.1273A>C (p.Ile425Leu)
c.1228A>C (p.Ile410Leu)
c.1135A>C (p.Ile379Leu)
9g.36223497T>ACA373428043CLTA,GNEc.1380A>T (p.Glu460Asp)
c.1110A>T (p.Glu370Asp)
c.1287A>T (p.Glu429Asp)
c.485+19318T>A (n.485+19318T>A)
c.957A>T (p.Glu319Asp)
c.1272A>T (p.Glu424Asp)
c.1227A>T (p.Glu409Asp)
c.1134A>T (p.Glu378Asp)
9g.36223497T>CCA5056507CLTA,GNEc.1380A>G (p.Glu460=)
c.1110A>G (p.Glu370=)
c.1287A>G (p.Glu429=)
c.485+19318T>C (n.485+19318T>C)
c.957A>G (p.Glu319=)
c.1272A>G (p.Glu424=)
c.1227A>G (p.Glu409=)
c.1134A>G (p.Glu378=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36223497T>GCA373428048CLTA,GNEc.1380A>C (p.Glu460Asp)
c.1110A>C (p.Glu370Asp)
c.1287A>C (p.Glu429Asp)
c.485+19318T>G (n.485+19318T>G)
c.957A>C (p.Glu319Asp)
c.1272A>C (p.Glu424Asp)
c.1227A>C (p.Glu409Asp)
c.1134A>C (p.Glu378Asp)
9g.36223497T=CA1846334660CLTA,GNEc.1380A= (p.Glu460=)
c.1110A= (p.Glu370=)
c.1287A= (p.Glu429=)
c.485+19318T= (n.485+19318T=)
c.957A= (p.Glu319=)
c.1272A= (p.Glu424=)
c.1227A= (p.Glu409=)
c.1134A= (p.Glu378=)
9g.36223498T>ACA373428051CLTA,GNEc.1379A>T (p.Glu460Val)
c.1109A>T (p.Glu370Val)
c.1286A>T (p.Glu429Val)
c.485+19319T>A (n.485+19319T>A)
c.956A>T (p.Glu319Val)
c.1271A>T (p.Glu424Val)
c.1226A>T (p.Glu409Val)
c.1133A>T (p.Glu378Val)
9g.36223498T>CCA373428053CLTA,GNEc.1379A>G (p.Glu460Gly)
c.1109A>G (p.Glu370Gly)
c.1286A>G (p.Glu429Gly)
c.485+19319T>C (n.485+19319T>C)
c.956A>G (p.Glu319Gly)
c.1271A>G (p.Glu424Gly)
c.1226A>G (p.Glu409Gly)
c.1133A>G (p.Glu378Gly)
9g.36223498T>GCA373428055CLTA,GNEc.1379A>C (p.Glu460Ala)
c.1109A>C (p.Glu370Ala)
c.1286A>C (p.Glu429Ala)
c.485+19319T>G (n.485+19319T>G)
c.956A>C (p.Glu319Ala)
c.1271A>C (p.Glu424Ala)
c.1226A>C (p.Glu409Ala)
c.1133A>C (p.Glu378Ala)
9g.36223499C>ACA373428056CLTA,GNEc.1378G>T (p.Glu460Ter)
c.1108G>T (p.Glu370Ter)
c.1285G>T (p.Glu429Ter)
c.485+19320C>A (n.485+19320C>A)
c.955G>T (p.Glu319Ter)
c.1270G>T (p.Glu424Ter)
c.1225G>T (p.Glu409Ter)
c.1132G>T (p.Glu378Ter)
 gnomAD v4
9g.36223499C=CA1846334664CLTA,GNEc.1378G= (p.Glu460=)
c.1108G= (p.Glu370=)
c.1285G= (p.Glu429=)
c.485+19320C= (n.485+19320C=)
c.955G= (p.Glu319=)
c.1270G= (p.Glu424=)
c.1225G= (p.Glu409=)
c.1132G= (p.Glu378=)
9g.36223499C>GCA373428058CLTA,GNEc.1378G>C (p.Glu460Gln)
c.1108G>C (p.Glu370Gln)
c.1285G>C (p.Glu429Gln)
c.485+19320C>G (n.485+19320C>G)
c.955G>C (p.Glu319Gln)
c.1270G>C (p.Glu424Gln)
c.1225G>C (p.Glu409Gln)
c.1132G>C (p.Glu378Gln)
9g.36223499C>TCA373428060CLTA,GNEc.1378G>A (p.Glu460Lys)
c.1108G>A (p.Glu370Lys)
c.1285G>A (p.Glu429Lys)
c.485+19320C>T (n.485+19320C>T)
c.955G>A (p.Glu319Lys)
c.1270G>A (p.Glu424Lys)
c.1225G>A (p.Glu409Lys)
c.1132G>A (p.Glu378Lys)
 ClinVar dbSNP
9g.36223500A>CCA464495446CLTA,GNEc.1377T>G (p.Gly459=)
c.1107T>G (p.Gly369=)
c.1284T>G (p.Gly428=)
c.485+19321A>C (n.485+19321A>C)
c.954T>G (p.Gly318=)
c.1269T>G (p.Gly423=)
c.1224T>G (p.Gly408=)
c.1131T>G (p.Gly377=)
9g.36223500A>GCA464495447CLTA,GNEc.1377T>C (p.Gly459=)
c.1107T>C (p.Gly369=)
c.1284T>C (p.Gly428=)
c.485+19321A>G (n.485+19321A>G)
c.954T>C (p.Gly318=)
c.1269T>C (p.Gly423=)
c.1224T>C (p.Gly408=)
c.1131T>C (p.Gly377=)
9g.36223500A>TCA464495448CLTA,GNEc.1377T>A (p.Gly459=)
c.1107T>A (p.Gly369=)
c.1284T>A (p.Gly428=)
c.485+19321A>T (n.485+19321A>T)
c.954T>A (p.Gly318=)
c.1269T>A (p.Gly423=)
c.1224T>A (p.Gly408=)
c.1131T>A (p.Gly377=)
9g.36223500_36223501delinsACCA1846334669CLTA,GNEc.1376_1377delinsGT (p.Gly459=)
c.1106_1107delinsGT (p.Gly369=)
c.1283_1284delinsGT (p.Gly428=)
c.485+19321_485+19322delinsAC (n.485+19321_485+19322delinsAC)
c.953_954delinsGT (p.Gly318=)
c.1268_1269delinsGT (p.Gly423=)
c.1223_1224delinsGT (p.Gly408=)
c.1130_1131delinsGT (p.Gly377=)
9g.36223501C>ACA373428062CLTA,GNEc.1376G>T (p.Gly459Val)
c.1106G>T (p.Gly369Val)
c.1283G>T (p.Gly428Val)
c.485+19322C>A (n.485+19322C>A)
c.953G>T (p.Gly318Val)
c.1268G>T (p.Gly423Val)
c.1223G>T (p.Gly408Val)
c.1130G>T (p.Gly377Val)
9g.36223501C>GCA373428063CLTA,GNEc.1376G>C (p.Gly459Ala)
c.1106G>C (p.Gly369Ala)
c.1283G>C (p.Gly428Ala)
c.485+19322C>G (n.485+19322C>G)
c.953G>C (p.Gly318Ala)
c.1268G>C (p.Gly423Ala)
c.1223G>C (p.Gly408Ala)
c.1130G>C (p.Gly377Ala)
9g.36223501C>TCA373428064CLTA,GNEc.1376G>A (p.Gly459Asp)
c.1106G>A (p.Gly369Asp)
c.1283G>A (p.Gly428Asp)
c.485+19322C>T (n.485+19322C>T)
c.953G>A (p.Gly318Asp)
c.1268G>A (p.Gly423Asp)
c.1223G>A (p.Gly408Asp)
c.1130G>A (p.Gly377Asp)
 gnomAD v4
9g.36223503delCA16041315CLTA,GNEc.1376del
c.1106del
c.1283del
c.485+19324del (n.485+19324del)
c.953del
c.1268del
c.1223del
c.1130del
 ClinVar dbSNP
9g.36223502C>ACA373428066CLTA,GNEc.1375G>T (p.Gly459Cys)
c.1105G>T (p.Gly369Cys)
c.1282G>T (p.Gly428Cys)
c.485+19323C>A (n.485+19323C>A)
c.952G>T (p.Gly318Cys)
c.1267G>T (p.Gly423Cys)
c.1222G>T (p.Gly408Cys)
c.1129G>T (p.Gly377Cys)
9g.36223502C=CA1846334678CLTA,GNEc.1375G= (p.Gly459=)
c.1105G= (p.Gly369=)
c.1282G= (p.Gly428=)
c.485+19323C= (n.485+19323C=)
c.952G= (p.Gly318=)
c.1267G= (p.Gly423=)
c.1222G= (p.Gly408=)
c.1129G= (p.Gly377=)
9g.36223502C>GCA373428068CLTA,GNEc.1375G>C (p.Gly459Arg)
c.1105G>C (p.Gly369Arg)
c.1282G>C (p.Gly428Arg)
c.485+19323C>G (n.485+19323C>G)
c.952G>C (p.Gly318Arg)
c.1267G>C (p.Gly423Arg)
c.1222G>C (p.Gly408Arg)
c.1129G>C (p.Gly377Arg)
9g.36223502C>TCA5056508CLTA,GNEc.1375G>A (p.Gly459Ser)
c.1105G>A (p.Gly369Ser)
c.1282G>A (p.Gly428Ser)
c.485+19323C>T (n.485+19323C>T)
c.952G>A (p.Gly318Ser)
c.1267G>A (p.Gly423Ser)
c.1222G>A (p.Gly408Ser)
c.1129G>A (p.Gly377Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36223503C>ACA373428072CLTA,GNEc.1375-1G>T (n.1375-1G>T)
c.1105-1G>T (n.1105-1G>T)
c.1282-1G>T (n.1282-1G>T)
c.485+19324C>A (n.485+19324C>A)
c.952-1G>T (n.952-1G>T)
c.1267-1G>T (n.1267-1G>T)
c.1222-1G>T (n.1222-1G>T)
c.1129-1G>T (n.1129-1G>T)
9g.36223503C>GCA373428071CLTA,GNEc.1375-1G>C (n.1375-1G>C)
c.1105-1G>C (n.1105-1G>C)
c.1282-1G>C (n.1282-1G>C)
c.485+19324C>G (n.485+19324C>G)
c.952-1G>C (n.952-1G>C)
c.1267-1G>C (n.1267-1G>C)
c.1222-1G>C (n.1222-1G>C)
c.1129-1G>C (n.1129-1G>C)
9g.36223503C>TCA373428070CLTA,GNEc.1375-1G>A (n.1375-1G>A)
c.1105-1G>A (n.1105-1G>A)
c.1282-1G>A (n.1282-1G>A)
c.485+19324C>T (n.485+19324C>T)
c.952-1G>A (n.952-1G>A)
c.1267-1G>A (n.1267-1G>A)
c.1222-1G>A (n.1222-1G>A)
c.1129-1G>A (n.1129-1G>A)
9g.36223504T>ACA373428073CLTA,GNEc.1375-2A>T (n.1375-2A>T)
c.1105-2A>T (n.1105-2A>T)
c.1282-2A>T (n.1282-2A>T)
c.485+19325T>A (n.485+19325T>A)
c.952-2A>T (n.952-2A>T)
c.1267-2A>T (n.1267-2A>T)
c.1222-2A>T (n.1222-2A>T)
c.1129-2A>T (n.1129-2A>T)
9g.36223504T>CCA373428074CLTA,GNEc.1375-2A>G (n.1375-2A>G)
c.1105-2A>G (n.1105-2A>G)
c.1282-2A>G (n.1282-2A>G)
c.485+19325T>C (n.485+19325T>C)
c.952-2A>G (n.952-2A>G)
c.1267-2A>G (n.1267-2A>G)
c.1222-2A>G (n.1222-2A>G)
c.1129-2A>G (n.1129-2A>G)
9g.36223504T>GCA373428075CLTA,GNEc.1375-2A>C (n.1375-2A>C)
c.1105-2A>C (n.1105-2A>C)
c.1282-2A>C (n.1282-2A>C)
c.485+19325T>G (n.485+19325T>G)
c.952-2A>C (n.952-2A>C)
c.1267-2A>C (n.1267-2A>C)
c.1222-2A>C (n.1222-2A>C)
c.1129-2A>C (n.1129-2A>C)
9g.36223505A>GCA2689945909CLTA,GNEc.1375-3T>C (n.1375-3T>C)
c.1105-3T>C (n.1105-3T>C)
c.1282-3T>C (n.1282-3T>C)
c.485+19326A>G (n.485+19326A>G)
c.952-3T>C (n.952-3T>C)
c.1267-3T>C (n.1267-3T>C)
c.1222-3T>C (n.1222-3T>C)
c.1129-3T>C (n.1129-3T>C)
 gnomAD v4
9g.36223508delCA2689945910CLTA,GNEc.1375-3del (n.1375-3del)
c.1105-3del (n.1105-3del)
c.1282-3del (n.1282-3del)
c.485+19329del (n.485+19329del)
c.952-3del (n.952-3del)
c.1267-3del (n.1267-3del)
c.1222-3del (n.1222-3del)
c.1129-3del (n.1129-3del)
 gnomAD v4
9g.36223519_36223520insCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCCCGCCCCACCCCCAGACCCCCCTAATAAAAAAAAAAGAGAAAACAACCA2580616198CLTA,GNEc.1375-3_1375-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT (n.1375-3_1375-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT)
c.1105-3_1105-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT (n.1105-3_1105-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT)
c.1282-3_1282-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT (n.1282-3_1282-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT)
c.485+19340_485+19341insCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCCCGCCCCACCCCCAGACCCCCCTAATAAAAAAAAAAGAGAAAACAAC (n.485+19340_485+19341insCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCCCGCCCCACCCCCAGACCCCCCTAATAAAAAAAAAAGAGAAAACAAC)
c.952-3_952-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT (n.952-3_952-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT)
c.1267-3_1267-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT (n.1267-3_1267-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT)
c.1222-3_1222-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT (n.1222-3_1222-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT)
c.1129-3_1129-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT (n.1129-3_1129-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT)
9g.36223507A>GCA2579338453CLTA,GNEc.1375-5T>C (n.1375-5T>C)
c.1105-5T>C (n.1105-5T>C)
c.1282-5T>C (n.1282-5T>C)
c.485+19328A>G (n.485+19328A>G)
c.952-5T>C (n.952-5T>C)
c.1267-5T>C (n.1267-5T>C)
c.1222-5T>C (n.1222-5T>C)
c.1129-5T>C (n.1129-5T>C)
 gnomAD v4
9g.36223508A=CA1846334681CLTA,GNEc.1375-6T= (n.1375-6T=)
c.1105-6T= (n.1105-6T=)
c.1282-6T= (n.1282-6T=)
c.485+19329A= (n.485+19329A=)
c.952-6T= (n.952-6T=)
c.1267-6T= (n.1267-6T=)
c.1222-6T= (n.1222-6T=)
c.1129-6T= (n.1129-6T=)
9g.36223508A>GCA1123243725CLTA,GNEc.1375-6T>C (n.1375-6T>C)
c.1105-6T>C (n.1105-6T>C)
c.1282-6T>C (n.1282-6T>C)
c.485+19329A>G (n.485+19329A>G)
c.952-6T>C (n.952-6T>C)
c.1267-6T>C (n.1267-6T>C)
c.1222-6T>C (n.1222-6T>C)
c.1129-6T>C (n.1129-6T>C)
 dbSNP gnomAD v3 gnomAD v4
9g.36223508_36223509insCA2573102997CLTA,GNEc.1375-7_1375-6ins (n.1375-7_1375-6ins)
c.1105-7_1105-6ins (n.1105-7_1105-6ins)
c.1282-7_1282-6ins (n.1282-7_1282-6ins)
c.485+19329_485+19330ins (n.485+19329_485+19330ins)
c.952-7_952-6ins (n.952-7_952-6ins)
c.1267-7_1267-6ins (n.1267-7_1267-6ins)
c.1222-7_1222-6ins (n.1222-7_1222-6ins)
c.1129-7_1129-6ins (n.1129-7_1129-6ins)
9g.36223509G>CCA2740095473CLTA,GNEc.1375-7C>G (n.1375-7C>G)
c.1105-7C>G (n.1105-7C>G)
c.1282-7C>G (n.1282-7C>G)
c.485+19330G>C (n.485+19330G>C)
c.952-7C>G (n.952-7C>G)
c.1267-7C>G (n.1267-7C>G)
c.1222-7C>G (n.1222-7C>G)
c.1129-7C>G (n.1129-7C>G)
 ClinVar
9g.36223519_36223520insCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAGAAAACAACCA2580616199CLTA,GNEc.1375-7_1375-6insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTC (n.1375-7_1375-6insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTC)
c.1105-7_1105-6insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTC (n.1105-7_1105-6insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTC)
c.1282-7_1282-6insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTC (n.1282-7_1282-6insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTC)
c.485+19340_485+19341insCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAGAAAACAAC (n.485+19340_485+19341insCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAGAAAACAAC)
c.952-7_952-6insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTC (n.952-7_952-6insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTC)
c.1267-7_1267-6insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTC (n.1267-7_1267-6insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTC)
c.1222-7_1222-6insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTC (n.1222-7_1222-6insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTC)
c.1129-7_1129-6insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTC (n.1129-7_1129-6insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTC)
9g.36223511G>CCA2740095474CLTA,GNEc.1375-9C>G (n.1375-9C>G)
c.1105-9C>G (n.1105-9C>G)
c.1282-9C>G (n.1282-9C>G)
c.485+19332G>C (n.485+19332G>C)
c.952-9C>G (n.952-9C>G)
c.1267-9C>G (n.1267-9C>G)
c.1222-9C>G (n.1222-9C>G)
c.1129-9C>G (n.1129-9C>G)
 ClinVar
9g.36223513_36223516delinsAAACCA1846334683CLTA,GNEc.1375-14_1375-11delinsGTTT (n.1375-14_1375-11delinsGTTT)
c.1105-14_1105-11delinsGTTT (n.1105-14_1105-11delinsGTTT)
c.1282-14_1282-11delinsGTTT (n.1282-14_1282-11delinsGTTT)
c.485+19334_485+19337delinsAAAC (n.485+19334_485+19337delinsAAAC)
c.952-14_952-11delinsGTTT (n.952-14_952-11delinsGTTT)
c.1267-14_1267-11delinsGTTT (n.1267-14_1267-11delinsGTTT)
c.1222-14_1222-11delinsGTTT (n.1222-14_1222-11delinsGTTT)
c.1129-14_1129-11delinsGTTT (n.1129-14_1129-11delinsGTTT)
9g.36223519_36223521delCA5056509CLTA,GNEc.1375-14_1375-12del (n.1375-14_1375-12del)
c.1105-14_1105-12del (n.1105-14_1105-12del)
c.1282-14_1282-12del (n.1282-14_1282-12del)
c.485+19340_485+19342del (n.485+19340_485+19342del)
c.952-14_952-12del (n.952-14_952-12del)
c.1267-14_1267-12del (n.1267-14_1267-12del)
c.1222-14_1222-12del (n.1222-14_1222-12del)
c.1129-14_1129-12del (n.1129-14_1129-12del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36223516C=CA1846334688CLTA,GNEc.1375-14G= (n.1375-14G=)
c.1105-14G= (n.1105-14G=)
c.1282-14G= (n.1282-14G=)
c.485+19337C= (n.485+19337C=)
c.952-14G= (n.952-14G=)
c.1267-14G= (n.1267-14G=)
c.1222-14G= (n.1222-14G=)
c.1129-14G= (n.1129-14G=)
9g.36223516C>TCA1846334693CLTA,GNEc.1375-14G>A (n.1375-14G>A)
c.1105-14G>A (n.1105-14G>A)
c.1282-14G>A (n.1282-14G>A)
c.485+19337C>T (n.485+19337C>T)
c.952-14G>A (n.952-14G>A)
c.1267-14G>A (n.1267-14G>A)
c.1222-14G>A (n.1222-14G>A)
c.1129-14G>A (n.1129-14G>A)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched