Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.140017662_140017695dupCA2685192348TBXAS1c.1365-9_1389dup
c.1364+1802_1364+1835dup (n.1364+1802_1364+1835dup)
c.*1154-9_*1178dup
c.1503-9_1527dup
c.1368-9_1392dup
c.1367+1802_1367+1835dup (n.1367+1802_1367+1835dup)
c.1506-9_1530dup
c.1164-9_1188dup
c.1308-9_1332dup
c.-4294965664-9_-4294965640dup
c.1182-9_1206dup
c.1110-9_1134dup
 gnomAD v4
7g.140017674C>ACA369519500TBXAS1c.1368C>A (p.Phe456Leu)
c.1364+1814C>A (n.1364+1814C>A)
c.*1157C>A (n.*1157C>A)
c.1506C>A (p.Phe502Leu)
c.1371C>A (p.Phe457Leu)
c.1367+1814C>A (n.1367+1814C>A)
c.1509C>A (p.Phe503Leu)
c.1167C>A (p.Phe389Leu)
c.1311C>A (p.Phe437Leu)
c.-4294965661C>A
c.1185C>A (p.Phe395Leu)
c.1113C>A (p.Phe371Leu)
7g.140017674C>GCA369519496TBXAS1c.1368C>G (p.Phe456Leu)
c.1364+1814C>G (n.1364+1814C>G)
c.*1157C>G (n.*1157C>G)
c.1506C>G (p.Phe502Leu)
c.1371C>G (p.Phe457Leu)
c.1367+1814C>G (n.1367+1814C>G)
c.1509C>G (p.Phe503Leu)
c.1167C>G (p.Phe389Leu)
c.1311C>G (p.Phe437Leu)
c.-4294965661C>G
c.1185C>G (p.Phe395Leu)
c.1113C>G (p.Phe371Leu)
7g.140017674C>TCA457968003TBXAS1c.1368C>T (p.Phe456=)
c.1364+1814C>T (n.1364+1814C>T)
c.*1157C>T (n.*1157C>T)
c.1506C>T (p.Phe502=)
c.1371C>T (p.Phe457=)
c.1367+1814C>T (n.1367+1814C>T)
c.1509C>T (p.Phe503=)
c.1167C>T (p.Phe389=)
c.1311C>T (p.Phe437=)
c.-4294965661C>T
c.1185C>T (p.Phe395=)
c.1113C>T (p.Phe371=)
7g.140017675A=CA1747366665TBXAS1c.1369A= (p.Thr457=)
c.1364+1815A= (n.1364+1815A=)
c.*1158A= (n.*1158A=)
c.1507A= (p.Thr503=)
c.1372A= (p.Thr458=)
c.1367+1815A= (n.1367+1815A=)
c.1510A= (p.Thr504=)
c.1168A= (p.Thr390=)
c.1312A= (p.Thr438=)
c.-4294965660A=
c.1186A= (p.Thr396=)
c.1114A= (p.Thr372=)
7g.140017675A>CCA4512023TBXAS1c.1369A>C (p.Thr457Pro)
c.1364+1815A>C (n.1364+1815A>C)
c.*1158A>C (n.*1158A>C)
c.1507A>C (p.Thr503Pro)
c.1372A>C (p.Thr458Pro)
c.1367+1815A>C (n.1367+1815A>C)
c.1510A>C (p.Thr504Pro)
c.1168A>C (p.Thr390Pro)
c.1312A>C (p.Thr438Pro)
c.-4294965660A>C
c.1186A>C (p.Thr396Pro)
c.1114A>C (p.Thr372Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.140017675A>GCA369519532TBXAS1c.1369A>G (p.Thr457Ala)
c.1364+1815A>G (n.1364+1815A>G)
c.*1158A>G (n.*1158A>G)
c.1507A>G (p.Thr503Ala)
c.1372A>G (p.Thr458Ala)
c.1367+1815A>G (n.1367+1815A>G)
c.1510A>G (p.Thr504Ala)
c.1168A>G (p.Thr390Ala)
c.1312A>G (p.Thr438Ala)
c.-4294965660A>G
c.1186A>G (p.Thr396Ala)
c.1114A>G (p.Thr372Ala)
 gnomAD v4
7g.140017675A>TCA369519520TBXAS1c.1369A>T (p.Thr457Ser)
c.1364+1815A>T (n.1364+1815A>T)
c.*1158A>T (n.*1158A>T)
c.1507A>T (p.Thr503Ser)
c.1372A>T (p.Thr458Ser)
c.1367+1815A>T (n.1367+1815A>T)
c.1510A>T (p.Thr504Ser)
c.1168A>T (p.Thr390Ser)
c.1312A>T (p.Thr438Ser)
c.-4294965660A>T
c.1186A>T (p.Thr396Ser)
c.1114A>T (p.Thr372Ser)
7g.140017676C>ACA369519538TBXAS1c.1370C>A (p.Thr457Lys)
c.1364+1816C>A (n.1364+1816C>A)
c.*1159C>A (n.*1159C>A)
c.1508C>A (p.Thr503Lys)
c.1373C>A (p.Thr458Lys)
c.1367+1816C>A (n.1367+1816C>A)
c.1511C>A (p.Thr504Lys)
c.1169C>A (p.Thr390Lys)
c.1313C>A (p.Thr438Lys)
c.-4294965659C>A
c.1187C>A (p.Thr396Lys)
c.1115C>A (p.Thr372Lys)
 gnomAD v4
7g.140017676C=CA1747366666TBXAS1c.1370C= (p.Thr457=)
c.1364+1816C= (n.1364+1816C=)
c.*1159C= (n.*1159C=)
c.1508C= (p.Thr503=)
c.1373C= (p.Thr458=)
c.1367+1816C= (n.1367+1816C=)
c.1511C= (p.Thr504=)
c.1169C= (p.Thr390=)
c.1313C= (p.Thr438=)
c.-4294965659C=
c.1187C= (p.Thr396=)
c.1115C= (p.Thr372=)
7g.140017676C>GCA369519542TBXAS1c.1370C>G (p.Thr457Arg)
c.1364+1816C>G (n.1364+1816C>G)
c.*1159C>G (n.*1159C>G)
c.1508C>G (p.Thr503Arg)
c.1373C>G (p.Thr458Arg)
c.1367+1816C>G (n.1367+1816C>G)
c.1511C>G (p.Thr504Arg)
c.1169C>G (p.Thr390Arg)
c.1313C>G (p.Thr438Arg)
c.-4294965659C>G
c.1187C>G (p.Thr396Arg)
c.1115C>G (p.Thr372Arg)
7g.140017676C>TCA4512024TBXAS1c.1370C>T (p.Thr457Met)
c.1364+1816C>T (n.1364+1816C>T)
c.*1159C>T (n.*1159C>T)
c.1508C>T (p.Thr503Met)
c.1373C>T (p.Thr458Met)
c.1367+1816C>T (n.1367+1816C>T)
c.1511C>T (p.Thr504Met)
c.1169C>T (p.Thr390Met)
c.1313C>T (p.Thr438Met)
c.-4294965659C>T
c.1187C>T (p.Thr396Met)
c.1115C>T (p.Thr372Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.140017677G>ACA4512025TBXAS1c.1371G>A (p.Thr457=)
c.1364+1817G>A (n.1364+1817G>A)
c.*1160G>A (n.*1160G>A)
c.1509G>A (p.Thr503=)
c.1374G>A (p.Thr458=)
c.1367+1817G>A (n.1367+1817G>A)
c.1512G>A (p.Thr504=)
c.1170G>A (p.Thr390=)
c.1314G>A (p.Thr438=)
c.-4294965658G>A
c.1188G>A (p.Thr396=)
c.1116G>A (p.Thr372=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140017677G>CCA457968004TBXAS1c.1371G>C (p.Thr457=)
c.1364+1817G>C (n.1364+1817G>C)
c.*1160G>C (n.*1160G>C)
c.1509G>C (p.Thr503=)
c.1374G>C (p.Thr458=)
c.1367+1817G>C (n.1367+1817G>C)
c.1512G>C (p.Thr504=)
c.1170G>C (p.Thr390=)
c.1314G>C (p.Thr438=)
c.-4294965658G>C
c.1188G>C (p.Thr396=)
c.1116G>C (p.Thr372=)
 dbSNP
7g.140017677G=CA1747366667TBXAS1c.1371G= (p.Thr457=)
c.1364+1817G= (n.1364+1817G=)
c.*1160G= (n.*1160G=)
c.1509G= (p.Thr503=)
c.1374G= (p.Thr458=)
c.1367+1817G= (n.1367+1817G=)
c.1512G= (p.Thr504=)
c.1170G= (p.Thr390=)
c.1314G= (p.Thr438=)
c.-4294965658G=
c.1188G= (p.Thr396=)
c.1116G= (p.Thr372=)
7g.140017677G>TCA457968005TBXAS1c.1371G>T (p.Thr457=)
c.1364+1817G>T (n.1364+1817G>T)
c.*1160G>T (n.*1160G>T)
c.1509G>T (p.Thr503=)
c.1374G>T (p.Thr458=)
c.1367+1817G>T (n.1367+1817G>T)
c.1512G>T (p.Thr504=)
c.1170G>T (p.Thr390=)
c.1314G>T (p.Thr438=)
c.-4294965658G>T
c.1188G>T (p.Thr396=)
c.1116G>T (p.Thr372=)
 dbSNP gnomAD v2 gnomAD v4
7g.140017678G>ACA369519549TBXAS1c.1372G>A (p.Ala458Thr)
c.1364+1818G>A (n.1364+1818G>A)
c.*1161G>A (n.*1161G>A)
c.1510G>A (p.Ala504Thr)
c.1375G>A (p.Ala459Thr)
c.1367+1818G>A (n.1367+1818G>A)
c.1513G>A (p.Ala505Thr)
c.1171G>A (p.Ala391Thr)
c.1315G>A (p.Ala439Thr)
c.-4294965657G>A
c.1189G>A (p.Ala397Thr)
c.1117G>A (p.Ala373Thr)
7g.140017678G>CCA369519554TBXAS1c.1372G>C (p.Ala458Pro)
c.1364+1818G>C (n.1364+1818G>C)
c.*1161G>C (n.*1161G>C)
c.1510G>C (p.Ala504Pro)
c.1375G>C (p.Ala459Pro)
c.1367+1818G>C (n.1367+1818G>C)
c.1513G>C (p.Ala505Pro)
c.1171G>C (p.Ala391Pro)
c.1315G>C (p.Ala439Pro)
c.-4294965657G>C
c.1189G>C (p.Ala397Pro)
c.1117G>C (p.Ala373Pro)
7g.140017678G>TCA369519556TBXAS1c.1372G>T (p.Ala458Ser)
c.1364+1818G>T (n.1364+1818G>T)
c.*1161G>T (n.*1161G>T)
c.1510G>T (p.Ala504Ser)
c.1375G>T (p.Ala459Ser)
c.1367+1818G>T (n.1367+1818G>T)
c.1513G>T (p.Ala505Ser)
c.1171G>T (p.Ala391Ser)
c.1315G>T (p.Ala439Ser)
c.-4294965657G>T
c.1189G>T (p.Ala397Ser)
c.1117G>T (p.Ala373Ser)
7g.140017679C>ACA369519570TBXAS1c.1373C>A (p.Ala458Asp)
c.1364+1819C>A (n.1364+1819C>A)
c.*1162C>A (n.*1162C>A)
c.1511C>A (p.Ala504Asp)
c.1376C>A (p.Ala459Asp)
c.1367+1819C>A (n.1367+1819C>A)
c.1514C>A (p.Ala505Asp)
c.1172C>A (p.Ala391Asp)
c.1316C>A (p.Ala439Asp)
c.-4294965656C>A
c.1190C>A (p.Ala397Asp)
c.1118C>A (p.Ala373Asp)
7g.140017679C>GCA369519582TBXAS1c.1373C>G (p.Ala458Gly)
c.1364+1819C>G (n.1364+1819C>G)
c.*1162C>G (n.*1162C>G)
c.1511C>G (p.Ala504Gly)
c.1376C>G (p.Ala459Gly)
c.1367+1819C>G (n.1367+1819C>G)
c.1514C>G (p.Ala505Gly)
c.1172C>G (p.Ala391Gly)
c.1316C>G (p.Ala439Gly)
c.-4294965656C>G
c.1190C>G (p.Ala397Gly)
c.1118C>G (p.Ala373Gly)
7g.140017679C>TCA369519589TBXAS1c.1373C>T (p.Ala458Val)
c.1364+1819C>T (n.1364+1819C>T)
c.*1162C>T (n.*1162C>T)
c.1511C>T (p.Ala504Val)
c.1376C>T (p.Ala459Val)
c.1367+1819C>T (n.1367+1819C>T)
c.1514C>T (p.Ala505Val)
c.1172C>T (p.Ala391Val)
c.1316C>T (p.Ala439Val)
c.-4294965656C>T
c.1190C>T (p.Ala397Val)
c.1118C>T (p.Ala373Val)
 gnomAD v4
7g.140017680T>ACA457968006TBXAS1c.1374T>A (p.Ala458=)
c.1364+1820T>A (n.1364+1820T>A)
c.*1163T>A (n.*1163T>A)
c.1512T>A (p.Ala504=)
c.1377T>A (p.Ala459=)
c.1367+1820T>A (n.1367+1820T>A)
c.1515T>A (p.Ala505=)
c.1173T>A (p.Ala391=)
c.1317T>A (p.Ala439=)
c.-4294965655T>A
c.1191T>A (p.Ala397=)
c.1119T>A (p.Ala373=)
7g.140017680T>CCA457968007TBXAS1c.1374T>C (p.Ala458=)
c.1364+1820T>C (n.1364+1820T>C)
c.*1163T>C (n.*1163T>C)
c.1512T>C (p.Ala504=)
c.1377T>C (p.Ala459=)
c.1367+1820T>C (n.1367+1820T>C)
c.1515T>C (p.Ala505=)
c.1173T>C (p.Ala391=)
c.1317T>C (p.Ala439=)
c.-4294965655T>C
c.1191T>C (p.Ala397=)
c.1119T>C (p.Ala373=)
 dbSNP
7g.140017680T>GCA457968008TBXAS1c.1374T>G (p.Ala458=)
c.1364+1820T>G (n.1364+1820T>G)
c.*1163T>G (n.*1163T>G)
c.1512T>G (p.Ala504=)
c.1377T>G (p.Ala459=)
c.1367+1820T>G (n.1367+1820T>G)
c.1515T>G (p.Ala505=)
c.1173T>G (p.Ala391=)
c.1317T>G (p.Ala439=)
c.-4294965655T>G
c.1191T>G (p.Ala397=)
c.1119T>G (p.Ala373=)
7g.140017680T=CA1747366668TBXAS1c.1374T= (p.Ala458=)
c.1364+1820T= (n.1364+1820T=)
c.*1163T= (n.*1163T=)
c.1512T= (p.Ala504=)
c.1377T= (p.Ala459=)
c.1367+1820T= (n.1367+1820T=)
c.1515T= (p.Ala505=)
c.1173T= (p.Ala391=)
c.1317T= (p.Ala439=)
c.-4294965655T=
c.1191T= (p.Ala397=)
c.1119T= (p.Ala373=)
7g.140017681G>ACA4512026TBXAS1c.1375G>A (p.Glu459Lys)
c.1364+1821G>A (n.1364+1821G>A)
c.*1164G>A (n.*1164G>A)
c.1513G>A (p.Glu505Lys)
c.1378G>A (p.Glu460Lys)
c.1367+1821G>A (n.1367+1821G>A)
c.1516G>A (p.Glu506Lys)
c.1174G>A (p.Glu392Lys)
c.1318G>A (p.Glu440Lys)
c.-4294965654G>A
c.1192G>A (p.Glu398Lys)
c.1120G>A (p.Glu374Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.140017681G>CCA369519597TBXAS1c.1375G>C (p.Glu459Gln)
c.1364+1821G>C (n.1364+1821G>C)
c.*1164G>C (n.*1164G>C)
c.1513G>C (p.Glu505Gln)
c.1378G>C (p.Glu460Gln)
c.1367+1821G>C (n.1367+1821G>C)
c.1516G>C (p.Glu506Gln)
c.1174G>C (p.Glu392Gln)
c.1318G>C (p.Glu440Gln)
c.-4294965654G>C
c.1192G>C (p.Glu398Gln)
c.1120G>C (p.Glu374Gln)
7g.140017681G=CA1747366669TBXAS1c.1375G= (p.Glu459=)
c.1364+1821G= (n.1364+1821G=)
c.*1164G= (n.*1164G=)
c.1513G= (p.Glu505=)
c.1378G= (p.Glu460=)
c.1367+1821G= (n.1367+1821G=)
c.1516G= (p.Glu506=)
c.1174G= (p.Glu392=)
c.1318G= (p.Glu440=)
c.-4294965654G=
c.1192G= (p.Glu398=)
c.1120G= (p.Glu374=)
7g.140017681G>TCA369519606TBXAS1c.1375G>T (p.Glu459Ter)
c.1364+1821G>T (n.1364+1821G>T)
c.*1164G>T (n.*1164G>T)
c.1513G>T (p.Glu505Ter)
c.1378G>T (p.Glu460Ter)
c.1367+1821G>T (n.1367+1821G>T)
c.1516G>T (p.Glu506Ter)
c.1174G>T (p.Glu392Ter)
c.1318G>T (p.Glu440Ter)
c.-4294965654G>T
c.1192G>T (p.Glu398Ter)
c.1120G>T (p.Glu374Ter)
7g.140017682A=CA1747366670TBXAS1c.1376A= (p.Glu459=)
c.1364+1822A= (n.1364+1822A=)
c.*1165A= (n.*1165A=)
c.1514A= (p.Glu505=)
c.1379A= (p.Glu460=)
c.1367+1822A= (n.1367+1822A=)
c.1517A= (p.Glu506=)
c.1175A= (p.Glu392=)
c.1319A= (p.Glu440=)
c.-4294965653A=
c.1193A= (p.Glu398=)
c.1121A= (p.Glu374=)
7g.140017682A>CCA369519613TBXAS1c.1376A>C (p.Glu459Ala)
c.1364+1822A>C (n.1364+1822A>C)
c.*1165A>C (n.*1165A>C)
c.1514A>C (p.Glu505Ala)
c.1379A>C (p.Glu460Ala)
c.1367+1822A>C (n.1367+1822A>C)
c.1517A>C (p.Glu506Ala)
c.1175A>C (p.Glu392Ala)
c.1319A>C (p.Glu440Ala)
c.-4294965653A>C
c.1193A>C (p.Glu398Ala)
c.1121A>C (p.Glu374Ala)
7g.140017682A>GCA369519615TBXAS1c.1376A>G (p.Glu459Gly)
c.1364+1822A>G (n.1364+1822A>G)
c.*1165A>G (n.*1165A>G)
c.1514A>G (p.Glu505Gly)
c.1379A>G (p.Glu460Gly)
c.1367+1822A>G (n.1367+1822A>G)
c.1517A>G (p.Glu506Gly)
c.1175A>G (p.Glu392Gly)
c.1319A>G (p.Glu440Gly)
c.-4294965653A>G
c.1193A>G (p.Glu398Gly)
c.1121A>G (p.Glu374Gly)
7g.140017682A>TCA369519617TBXAS1c.1376A>T (p.Glu459Val)
c.1364+1822A>T (n.1364+1822A>T)
c.*1165A>T (n.*1165A>T)
c.1514A>T (p.Glu505Val)
c.1379A>T (p.Glu460Val)
c.1367+1822A>T (n.1367+1822A>T)
c.1517A>T (p.Glu506Val)
c.1175A>T (p.Glu392Val)
c.1319A>T (p.Glu440Val)
c.-4294965653A>T
c.1193A>T (p.Glu398Val)
c.1121A>T (p.Glu374Val)
 dbSNP
7g.140017683G>ACA4512027TBXAS1c.1377G>A (p.Glu459=)
c.1364+1823G>A (n.1364+1823G>A)
c.*1166G>A (n.*1166G>A)
c.1515G>A (p.Glu505=)
c.1380G>A (p.Glu460=)
c.1367+1823G>A (n.1367+1823G>A)
c.1518G>A (p.Glu506=)
c.1176G>A (p.Glu392=)
c.1320G>A (p.Glu440=)
c.-4294965652G>A
c.1194G>A (p.Glu398=)
c.1122G>A (p.Glu374=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140017683G>CCA369519628TBXAS1c.1377G>C (p.Glu459Asp)
c.1364+1823G>C (n.1364+1823G>C)
c.*1166G>C (n.*1166G>C)
c.1515G>C (p.Glu505Asp)
c.1380G>C (p.Glu460Asp)
c.1367+1823G>C (n.1367+1823G>C)
c.1518G>C (p.Glu506Asp)
c.1176G>C (p.Glu392Asp)
c.1320G>C (p.Glu440Asp)
c.-4294965652G>C
c.1194G>C (p.Glu398Asp)
c.1122G>C (p.Glu374Asp)
7g.140017683G=CA1747366671TBXAS1c.1377G= (p.Glu459=)
c.1364+1823G= (n.1364+1823G=)
c.*1166G= (n.*1166G=)
c.1515G= (p.Glu505=)
c.1380G= (p.Glu460=)
c.1367+1823G= (n.1367+1823G=)
c.1518G= (p.Glu506=)
c.1176G= (p.Glu392=)
c.1320G= (p.Glu440=)
c.-4294965652G=
c.1194G= (p.Glu398=)
c.1122G= (p.Glu374=)
7g.140017683G>TCA369519624TBXAS1c.1377G>T (p.Glu459Asp)
c.1364+1823G>T (n.1364+1823G>T)
c.*1166G>T (n.*1166G>T)
c.1515G>T (p.Glu505Asp)
c.1380G>T (p.Glu460Asp)
c.1367+1823G>T (n.1367+1823G>T)
c.1518G>T (p.Glu506Asp)
c.1176G>T (p.Glu392Asp)
c.1320G>T (p.Glu440Asp)
c.-4294965652G>T
c.1194G>T (p.Glu398Asp)
c.1122G>T (p.Glu374Asp)
7g.140017684G>ACA369519640TBXAS1c.1378G>A (p.Ala460Thr)
c.1364+1824G>A (n.1364+1824G>A)
c.*1167G>A (n.*1167G>A)
c.1516G>A (p.Ala506Thr)
c.1381G>A (p.Ala461Thr)
c.1367+1824G>A (n.1367+1824G>A)
c.1519G>A (p.Ala507Thr)
c.1177G>A (p.Ala393Thr)
c.1321G>A (p.Ala441Thr)
c.-4294965651G>A
c.1195G>A (p.Ala399Thr)
c.1123G>A (p.Ala375Thr)
 gnomAD v4
7g.140017684G>CCA369519649TBXAS1c.1378G>C (p.Ala460Pro)
c.1364+1824G>C (n.1364+1824G>C)
c.*1167G>C (n.*1167G>C)
c.1516G>C (p.Ala506Pro)
c.1381G>C (p.Ala461Pro)
c.1367+1824G>C (n.1367+1824G>C)
c.1519G>C (p.Ala507Pro)
c.1177G>C (p.Ala393Pro)
c.1321G>C (p.Ala441Pro)
c.-4294965651G>C
c.1195G>C (p.Ala399Pro)
c.1123G>C (p.Ala375Pro)
7g.140017684G>TCA369519653TBXAS1c.1378G>T (p.Ala460Ser)
c.1364+1824G>T (n.1364+1824G>T)
c.*1167G>T (n.*1167G>T)
c.1516G>T (p.Ala506Ser)
c.1381G>T (p.Ala461Ser)
c.1367+1824G>T (n.1367+1824G>T)
c.1519G>T (p.Ala507Ser)
c.1177G>T (p.Ala393Ser)
c.1321G>T (p.Ala441Ser)
c.-4294965651G>T
c.1195G>T (p.Ala399Ser)
c.1123G>T (p.Ala375Ser)
7g.140017685C>ACA4512028TBXAS1c.1379C>A (p.Ala460Asp)
c.1364+1825C>A (n.1364+1825C>A)
c.*1168C>A (n.*1168C>A)
c.1517C>A (p.Ala506Asp)
c.1382C>A (p.Ala461Asp)
c.1367+1825C>A (n.1367+1825C>A)
c.1520C>A (p.Ala507Asp)
c.1178C>A (p.Ala393Asp)
c.1322C>A (p.Ala441Asp)
c.-4294965650C>A
c.1196C>A (p.Ala399Asp)
c.1124C>A (p.Ala375Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.140017685C=CA1747366672TBXAS1c.1379C= (p.Ala460=)
c.1364+1825C= (n.1364+1825C=)
c.*1168C= (n.*1168C=)
c.1517C= (p.Ala506=)
c.1382C= (p.Ala461=)
c.1367+1825C= (n.1367+1825C=)
c.1520C= (p.Ala507=)
c.1178C= (p.Ala393=)
c.1322C= (p.Ala441=)
c.-4294965650C=
c.1196C= (p.Ala399=)
c.1124C= (p.Ala375=)
7g.140017685C>GCA369519666TBXAS1c.1379C>G (p.Ala460Gly)
c.1364+1825C>G (n.1364+1825C>G)
c.*1168C>G (n.*1168C>G)
c.1517C>G (p.Ala506Gly)
c.1382C>G (p.Ala461Gly)
c.1367+1825C>G (n.1367+1825C>G)
c.1520C>G (p.Ala507Gly)
c.1178C>G (p.Ala393Gly)
c.1322C>G (p.Ala441Gly)
c.-4294965650C>G
c.1196C>G (p.Ala399Gly)
c.1124C>G (p.Ala375Gly)
7g.140017685C>TCA369519668TBXAS1c.1379C>T (p.Ala460Val)
c.1364+1825C>T (n.1364+1825C>T)
c.*1168C>T (n.*1168C>T)
c.1517C>T (p.Ala506Val)
c.1382C>T (p.Ala461Val)
c.1367+1825C>T (n.1367+1825C>T)
c.1520C>T (p.Ala507Val)
c.1178C>T (p.Ala393Val)
c.1322C>T (p.Ala441Val)
c.-4294965650C>T
c.1196C>T (p.Ala399Val)
c.1124C>T (p.Ala375Val)
 gnomAD v4
7g.140017686C>ACA457968009TBXAS1c.1380C>A (p.Ala460=)
c.1364+1826C>A (n.1364+1826C>A)
c.*1169C>A (n.*1169C>A)
c.1518C>A (p.Ala506=)
c.1383C>A (p.Ala461=)
c.1367+1826C>A (n.1367+1826C>A)
c.1521C>A (p.Ala507=)
c.1179C>A (p.Ala393=)
c.1323C>A (p.Ala441=)
c.-4294965649C>A
c.1197C>A (p.Ala399=)
c.1125C>A (p.Ala375=)
7g.140017686C>GCA457968010TBXAS1c.1380C>G (p.Ala460=)
c.1364+1826C>G (n.1364+1826C>G)
c.*1169C>G (n.*1169C>G)
c.1518C>G (p.Ala506=)
c.1383C>G (p.Ala461=)
c.1367+1826C>G (n.1367+1826C>G)
c.1521C>G (p.Ala507=)
c.1179C>G (p.Ala393=)
c.1323C>G (p.Ala441=)
c.-4294965649C>G
c.1197C>G (p.Ala399=)
c.1125C>G (p.Ala375=)
7g.140017686C>TCA457968011TBXAS1c.1380C>T (p.Ala460=)
c.1364+1826C>T (n.1364+1826C>T)
c.*1169C>T (n.*1169C>T)
c.1518C>T (p.Ala506=)
c.1383C>T (p.Ala461=)
c.1367+1826C>T (n.1367+1826C>T)
c.1521C>T (p.Ala507=)
c.1179C>T (p.Ala393=)
c.1323C>T (p.Ala441=)
c.-4294965649C>T
c.1197C>T (p.Ala399=)
c.1125C>T (p.Ala375=)
7g.140017687_140017693delCA2685192352TBXAS1c.1381_1387del (p.Arg461SerfsTer22)
c.1364+1827_1364+1833del (n.1364+1827_1364+1833del)
c.*1170_*1176del (n.*1170_*1176del)
c.1519_1525del (p.Arg507SerfsTer22)
c.1384_1390del (p.Arg462SerfsTer22)
c.1367+1827_1367+1833del (n.1367+1827_1367+1833del)
c.1522_1528del (p.Arg508SerfsTer22)
c.1180_1186del (p.Arg394SerfsTer22)
c.1324_1330del (p.Arg442SerfsTer22)
c.-4294965648_-4294965642del
c.1198_1204del (p.Arg400SerfsTer22)
c.1126_1132del (p.Arg376SerfsTer22)
 gnomAD v4
7g.140017687C>ACA167962702TBXAS1c.1381C>A (p.Arg461=)
c.1364+1827C>A (n.1364+1827C>A)
c.*1170C>A (n.*1170C>A)
c.1519C>A (p.Arg507=)
c.1384C>A (p.Arg462=)
c.1367+1827C>A (n.1367+1827C>A)
c.1522C>A (p.Arg508=)
c.1180C>A (p.Arg394=)
c.1324C>A (p.Arg442=)
c.-4294965648C>A
c.1198C>A (p.Arg400=)
c.1126C>A (p.Arg376=)
 dbSNP gnomAD v4
7g.140017687C=CA1747366673TBXAS1c.1381C= (p.Arg461=)
c.1364+1827C= (n.1364+1827C=)
c.*1170C= (n.*1170C=)
c.1519C= (p.Arg507=)
c.1384C= (p.Arg462=)
c.1367+1827C= (n.1367+1827C=)
c.1522C= (p.Arg508=)
c.1180C= (p.Arg394=)
c.1324C= (p.Arg442=)
c.-4294965648C=
c.1198C= (p.Arg400=)
c.1126C= (p.Arg376=)
7g.140017687C>GCA4512030TBXAS1c.1381C>G (p.Arg461Gly)
c.1364+1827C>G (n.1364+1827C>G)
c.*1170C>G (n.*1170C>G)
c.1519C>G (p.Arg507Gly)
c.1384C>G (p.Arg462Gly)
c.1367+1827C>G (n.1367+1827C>G)
c.1522C>G (p.Arg508Gly)
c.1180C>G (p.Arg394Gly)
c.1324C>G (p.Arg442Gly)
c.-4294965648C>G
c.1198C>G (p.Arg400Gly)
c.1126C>G (p.Arg376Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.140017687C>TCA4512029TBXAS1c.1381C>T (p.Arg461Trp)
c.1364+1827C>T (n.1364+1827C>T)
c.*1170C>T (n.*1170C>T)
c.1519C>T (p.Arg507Trp)
c.1384C>T (p.Arg462Trp)
c.1367+1827C>T (n.1367+1827C>T)
c.1522C>T (p.Arg508Trp)
c.1180C>T (p.Arg394Trp)
c.1324C>T (p.Arg442Trp)
c.-4294965648C>T
c.1198C>T (p.Arg400Trp)
c.1126C>T (p.Arg376Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140017688_140017693dupCA2778143396TBXAS1c.1382_1387dup (p.Gln462_Gln463insArgGln)
c.1364+1828_1364+1833dup (n.1364+1828_1364+1833dup)
c.*1171_*1176dup (n.*1171_*1176dup)
c.1520_1525dup (p.Gln508_Gln509insArgGln)
c.1385_1390dup (p.Gln463_Gln464insArgGln)
c.1367+1828_1367+1833dup (n.1367+1828_1367+1833dup)
c.1523_1528dup (p.Gln509_Gln510insArgGln)
c.1181_1186dup (p.Gln395_Gln396insArgGln)
c.1325_1330dup (p.Gln443_Gln444insArgGln)
c.-4294965647_-4294965642dup
c.1199_1204dup (p.Gln401_Gln402insArgGln)
c.1127_1132dup (p.Gln377_Gln378insArgGln)
7g.140017688G>ACA369519684TBXAS1c.1382G>A (p.Arg461Gln)
c.1364+1828G>A (n.1364+1828G>A)
c.*1171G>A (n.*1171G>A)
c.1520G>A (p.Arg507Gln)
c.1385G>A (p.Arg462Gln)
c.1367+1828G>A (n.1367+1828G>A)
c.1523G>A (p.Arg508Gln)
c.1181G>A (p.Arg394Gln)
c.1325G>A (p.Arg442Gln)
c.-4294965647G>A
c.1199G>A (p.Arg400Gln)
c.1127G>A (p.Arg376Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.140017688G>CCA369519680TBXAS1c.1382G>C (p.Arg461Pro)
c.1364+1828G>C (n.1364+1828G>C)
c.*1171G>C (n.*1171G>C)
c.1520G>C (p.Arg507Pro)
c.1385G>C (p.Arg462Pro)
c.1367+1828G>C (n.1367+1828G>C)
c.1523G>C (p.Arg508Pro)
c.1181G>C (p.Arg394Pro)
c.1325G>C (p.Arg442Pro)
c.-4294965647G>C
c.1199G>C (p.Arg400Pro)
c.1127G>C (p.Arg376Pro)
 dbSNP
7g.140017688G=CA1747366674TBXAS1c.1382G= (p.Arg461=)
c.1364+1828G= (n.1364+1828G=)
c.*1171G= (n.*1171G=)
c.1520G= (p.Arg507=)
c.1385G= (p.Arg462=)
c.1367+1828G= (n.1367+1828G=)
c.1523G= (p.Arg508=)
c.1181G= (p.Arg394=)
c.1325G= (p.Arg442=)
c.-4294965647G=
c.1199G= (p.Arg400=)
c.1127G= (p.Arg376=)
7g.140017688G>TCA369519678TBXAS1c.1382G>T (p.Arg461Leu)
c.1364+1828G>T (n.1364+1828G>T)
c.*1171G>T (n.*1171G>T)
c.1520G>T (p.Arg507Leu)
c.1385G>T (p.Arg462Leu)
c.1367+1828G>T (n.1367+1828G>T)
c.1523G>T (p.Arg508Leu)
c.1181G>T (p.Arg394Leu)
c.1325G>T (p.Arg442Leu)
c.-4294965647G>T
c.1199G>T (p.Arg400Leu)
c.1127G>T (p.Arg376Leu)
 dbSNP gnomAD v3 gnomAD v4
7g.140017689G>ACA457968012TBXAS1c.1383G>A (p.Arg461=)
c.1364+1829G>A (n.1364+1829G>A)
c.*1172G>A (n.*1172G>A)
c.1521G>A (p.Arg507=)
c.1386G>A (p.Arg462=)
c.1367+1829G>A (n.1367+1829G>A)
c.1524G>A (p.Arg508=)
c.1182G>A (p.Arg394=)
c.1326G>A (p.Arg442=)
c.-4294965646G>A
c.1200G>A (p.Arg400=)
c.1128G>A (p.Arg376=)
 dbSNP gnomAD v4 COSMIC COSMIC
7g.140017689G>CCA457968014TBXAS1c.1383G>C (p.Arg461=)
c.1364+1829G>C (n.1364+1829G>C)
c.*1172G>C (n.*1172G>C)
c.1521G>C (p.Arg507=)
c.1386G>C (p.Arg462=)
c.1367+1829G>C (n.1367+1829G>C)
c.1524G>C (p.Arg508=)
c.1182G>C (p.Arg394=)
c.1326G>C (p.Arg442=)
c.-4294965646G>C
c.1200G>C (p.Arg400=)
c.1128G>C (p.Arg376=)
 dbSNP gnomAD v3 gnomAD v4
7g.140017689G=CA1747366675TBXAS1c.1383G= (p.Arg461=)
c.1364+1829G= (n.1364+1829G=)
c.*1172G= (n.*1172G=)
c.1521G= (p.Arg507=)
c.1386G= (p.Arg462=)
c.1367+1829G= (n.1367+1829G=)
c.1524G= (p.Arg508=)
c.1182G= (p.Arg394=)
c.1326G= (p.Arg442=)
c.-4294965646G=
c.1200G= (p.Arg400=)
c.1128G= (p.Arg376=)
7g.140017689G>TCA457968013TBXAS1c.1383G>T (p.Arg461=)
c.1364+1829G>T (n.1364+1829G>T)
c.*1172G>T (n.*1172G>T)
c.1521G>T (p.Arg507=)
c.1386G>T (p.Arg462=)
c.1367+1829G>T (n.1367+1829G>T)
c.1524G>T (p.Arg508=)
c.1182G>T (p.Arg394=)
c.1326G>T (p.Arg442=)
c.-4294965646G>T
c.1200G>T (p.Arg400=)
c.1128G>T (p.Arg376=)
7g.140017695_140017697delCA2579040036TBXAS1c.1389_1391del (p.Gln463del)
c.1364+1835_1364+1837del (n.1364+1835_1364+1837del)
c.*1178_*1180del (n.*1178_*1180del)
c.1527_1529del (p.Gln509del)
c.1392_1394del (p.Gln464del)
c.1367+1835_1367+1837del (n.1367+1835_1367+1837del)
c.1530_1532del (p.Gln510del)
c.1188_1190del (p.Gln396del)
c.1332_1334del (p.Gln444del)
c.-4294965640_-4294965638del
c.1206_1208del (p.Gln402del)
c.1134_1136del (p.Gln378del)
7g.140017690C>ACA369519691TBXAS1c.1384C>A (p.Gln462Lys)
c.1364+1830C>A (n.1364+1830C>A)
c.*1173C>A (n.*1173C>A)
c.1522C>A (p.Gln508Lys)
c.1387C>A (p.Gln463Lys)
c.1367+1830C>A (n.1367+1830C>A)
c.1525C>A (p.Gln509Lys)
c.1183C>A (p.Gln395Lys)
c.1327C>A (p.Gln443Lys)
c.-4294965645C>A
c.1201C>A (p.Gln401Lys)
c.1129C>A (p.Gln377Lys)
 gnomAD v4
7g.140017690C>GCA369519699TBXAS1c.1384C>G (p.Gln462Glu)
c.1364+1830C>G (n.1364+1830C>G)
c.*1173C>G (n.*1173C>G)
c.1522C>G (p.Gln508Glu)
c.1387C>G (p.Gln463Glu)
c.1367+1830C>G (n.1367+1830C>G)
c.1525C>G (p.Gln509Glu)
c.1183C>G (p.Gln395Glu)
c.1327C>G (p.Gln443Glu)
c.-4294965645C>G
c.1201C>G (p.Gln401Glu)
c.1129C>G (p.Gln377Glu)
7g.140017690C>TCA369519708TBXAS1c.1384C>T (p.Gln462Ter)
c.1364+1830C>T (n.1364+1830C>T)
c.*1173C>T (n.*1173C>T)
c.1522C>T (p.Gln508Ter)
c.1387C>T (p.Gln463Ter)
c.1367+1830C>T (n.1367+1830C>T)
c.1525C>T (p.Gln509Ter)
c.1183C>T (p.Gln395Ter)
c.1327C>T (p.Gln443Ter)
c.-4294965645C>T
c.1201C>T (p.Gln401Ter)
c.1129C>T (p.Gln377Ter)
7g.140017691A>CCA369519713TBXAS1c.1385A>C (p.Gln462Pro)
c.1364+1831A>C (n.1364+1831A>C)
c.*1174A>C (n.*1174A>C)
c.1523A>C (p.Gln508Pro)
c.1388A>C (p.Gln463Pro)
c.1367+1831A>C (n.1367+1831A>C)
c.1526A>C (p.Gln509Pro)
c.1184A>C (p.Gln395Pro)
c.1328A>C (p.Gln443Pro)
c.-4294965644A>C
c.1202A>C (p.Gln401Pro)
c.1130A>C (p.Gln377Pro)
 gnomAD v4
7g.140017691A>GCA369519728TBXAS1c.1385A>G (p.Gln462Arg)
c.1364+1831A>G (n.1364+1831A>G)
c.*1174A>G (n.*1174A>G)
c.1523A>G (p.Gln508Arg)
c.1388A>G (p.Gln463Arg)
c.1367+1831A>G (n.1367+1831A>G)
c.1526A>G (p.Gln509Arg)
c.1184A>G (p.Gln395Arg)
c.1328A>G (p.Gln443Arg)
c.-4294965644A>G
c.1202A>G (p.Gln401Arg)
c.1130A>G (p.Gln377Arg)
7g.140017691A>TCA369519731TBXAS1c.1385A>T (p.Gln462Leu)
c.1364+1831A>T (n.1364+1831A>T)
c.*1174A>T (n.*1174A>T)
c.1523A>T (p.Gln508Leu)
c.1388A>T (p.Gln463Leu)
c.1367+1831A>T (n.1367+1831A>T)
c.1526A>T (p.Gln509Leu)
c.1184A>T (p.Gln395Leu)
c.1328A>T (p.Gln443Leu)
c.-4294965644A>T
c.1202A>T (p.Gln401Leu)
c.1130A>T (p.Gln377Leu)
7g.140017692G>ACA457968015TBXAS1c.1386G>A (p.Gln462=)
c.1364+1832G>A (n.1364+1832G>A)
c.*1175G>A (n.*1175G>A)
c.1524G>A (p.Gln508=)
c.1389G>A (p.Gln463=)
c.1367+1832G>A (n.1367+1832G>A)
c.1527G>A (p.Gln509=)
c.1185G>A (p.Gln395=)
c.1329G>A (p.Gln443=)
c.-4294965643G>A
c.1203G>A (p.Gln401=)
c.1131G>A (p.Gln377=)
7g.140017692G>CCA369519735TBXAS1c.1386G>C (p.Gln462His)
c.1364+1832G>C (n.1364+1832G>C)
c.*1175G>C (n.*1175G>C)
c.1524G>C (p.Gln508His)
c.1389G>C (p.Gln463His)
c.1367+1832G>C (n.1367+1832G>C)
c.1527G>C (p.Gln509His)
c.1185G>C (p.Gln395His)
c.1329G>C (p.Gln443His)
c.-4294965643G>C
c.1203G>C (p.Gln401His)
c.1131G>C (p.Gln377His)
7g.140017692G>TCA369519737TBXAS1c.1386G>T (p.Gln462His)
c.1364+1832G>T (n.1364+1832G>T)
c.*1175G>T (n.*1175G>T)
c.1524G>T (p.Gln508His)
c.1389G>T (p.Gln463His)
c.1367+1832G>T (n.1367+1832G>T)
c.1527G>T (p.Gln509His)
c.1185G>T (p.Gln395His)
c.1329G>T (p.Gln443His)
c.-4294965643G>T
c.1203G>T (p.Gln401His)
c.1131G>T (p.Gln377His)
7g.140017693C>ACA369519749TBXAS1c.1387C>A (p.Gln463Lys)
c.1364+1833C>A (n.1364+1833C>A)
c.*1176C>A (n.*1176C>A)
c.1525C>A (p.Gln509Lys)
c.1390C>A (p.Gln464Lys)
c.1367+1833C>A (n.1367+1833C>A)
c.1528C>A (p.Gln510Lys)
c.1186C>A (p.Gln396Lys)
c.1330C>A (p.Gln444Lys)
c.-4294965642C>A
c.1204C>A (p.Gln402Lys)
c.1132C>A (p.Gln378Lys)
7g.140017693C>GCA369519756TBXAS1c.1387C>G (p.Gln463Glu)
c.1364+1833C>G (n.1364+1833C>G)
c.*1176C>G (n.*1176C>G)
c.1525C>G (p.Gln509Glu)
c.1390C>G (p.Gln464Glu)
c.1367+1833C>G (n.1367+1833C>G)
c.1528C>G (p.Gln510Glu)
c.1186C>G (p.Gln396Glu)
c.1330C>G (p.Gln444Glu)
c.-4294965642C>G
c.1204C>G (p.Gln402Glu)
c.1132C>G (p.Gln378Glu)
7g.140017693C>TCA369519762TBXAS1c.1387C>T (p.Gln463Ter)
c.1364+1833C>T (n.1364+1833C>T)
c.*1176C>T (n.*1176C>T)
c.1525C>T (p.Gln509Ter)
c.1390C>T (p.Gln464Ter)
c.1367+1833C>T (n.1367+1833C>T)
c.1528C>T (p.Gln510Ter)
c.1186C>T (p.Gln396Ter)
c.1330C>T (p.Gln444Ter)
c.-4294965642C>T
c.1204C>T (p.Gln402Ter)
c.1132C>T (p.Gln378Ter)
 gnomAD v4
7g.140017694A=CA1747366676TBXAS1c.1388A= (p.Gln463=)
c.1364+1834A= (n.1364+1834A=)
c.*1177A= (n.*1177A=)
c.1526A= (p.Gln509=)
c.1391A= (p.Gln464=)
c.1367+1834A= (n.1367+1834A=)
c.1529A= (p.Gln510=)
c.1187A= (p.Gln396=)
c.1331A= (p.Gln444=)
c.-4294965641A=
c.1205A= (p.Gln402=)
c.1133A= (p.Gln378=)
7g.140017694A>CCA369519770TBXAS1c.1388A>C (p.Gln463Pro)
c.1364+1834A>C (n.1364+1834A>C)
c.*1177A>C (n.*1177A>C)
c.1526A>C (p.Gln509Pro)
c.1391A>C (p.Gln464Pro)
c.1367+1834A>C (n.1367+1834A>C)
c.1529A>C (p.Gln510Pro)
c.1187A>C (p.Gln396Pro)
c.1331A>C (p.Gln444Pro)
c.-4294965641A>C
c.1205A>C (p.Gln402Pro)
c.1133A>C (p.Gln378Pro)
7g.140017694A>GCA4512031TBXAS1c.1388A>G (p.Gln463Arg)
c.1364+1834A>G (n.1364+1834A>G)
c.*1177A>G (n.*1177A>G)
c.1526A>G (p.Gln509Arg)
c.1391A>G (p.Gln464Arg)
c.1367+1834A>G (n.1367+1834A>G)
c.1529A>G (p.Gln510Arg)
c.1187A>G (p.Gln396Arg)
c.1331A>G (p.Gln444Arg)
c.-4294965641A>G
c.1205A>G (p.Gln402Arg)
c.1133A>G (p.Gln378Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140017694A>TCA369519764TBXAS1c.1388A>T (p.Gln463Leu)
c.1364+1834A>T (n.1364+1834A>T)
c.*1177A>T (n.*1177A>T)
c.1526A>T (p.Gln509Leu)
c.1391A>T (p.Gln464Leu)
c.1367+1834A>T (n.1367+1834A>T)
c.1529A>T (p.Gln510Leu)
c.1187A>T (p.Gln396Leu)
c.1331A>T (p.Gln444Leu)
c.-4294965641A>T
c.1205A>T (p.Gln402Leu)
c.1133A>T (p.Gln378Leu)
7g.140017695G>ACA4512032TBXAS1c.1389G>A (p.Gln463=)
c.1364+1835G>A (n.1364+1835G>A)
c.*1178G>A (n.*1178G>A)
c.1527G>A (p.Gln509=)
c.1392G>A (p.Gln464=)
c.1367+1835G>A (n.1367+1835G>A)
c.1530G>A (p.Gln510=)
c.1188G>A (p.Gln396=)
c.1332G>A (p.Gln444=)
c.-4294965640G>A
c.1206G>A (p.Gln402=)
c.1134G>A (p.Gln378=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140017695G>CCA369519782TBXAS1c.1389G>C (p.Gln463His)
c.1364+1835G>C (n.1364+1835G>C)
c.*1178G>C (n.*1178G>C)
c.1527G>C (p.Gln509His)
c.1392G>C (p.Gln464His)
c.1367+1835G>C (n.1367+1835G>C)
c.1530G>C (p.Gln510His)
c.1188G>C (p.Gln396His)
c.1332G>C (p.Gln444His)
c.-4294965640G>C
c.1206G>C (p.Gln402His)
c.1134G>C (p.Gln378His)
7g.140017695G=CA1747366677TBXAS1c.1389G= (p.Gln463=)
c.1364+1835G= (n.1364+1835G=)
c.*1178G= (n.*1178G=)
c.1527G= (p.Gln509=)
c.1392G= (p.Gln464=)
c.1367+1835G= (n.1367+1835G=)
c.1530G= (p.Gln510=)
c.1188G= (p.Gln396=)
c.1332G= (p.Gln444=)
c.-4294965640G=
c.1206G= (p.Gln402=)
c.1134G= (p.Gln378=)
7g.140017695G>TCA369519785TBXAS1c.1389G>T (p.Gln463His)
c.1364+1835G>T (n.1364+1835G>T)
c.*1178G>T (n.*1178G>T)
c.1527G>T (p.Gln509His)
c.1392G>T (p.Gln464His)
c.1367+1835G>T (n.1367+1835G>T)
c.1530G>T (p.Gln510His)
c.1188G>T (p.Gln396His)
c.1332G>T (p.Gln444His)
c.-4294965640G>T
c.1206G>T (p.Gln402His)
c.1134G>T (p.Gln378His)
7g.140017696C>ACA369519798TBXAS1c.1390C>A (p.His464Asn)
c.1364+1836C>A (n.1364+1836C>A)
c.*1179C>A (n.*1179C>A)
c.1528C>A (p.His510Asn)
c.1393C>A (p.His465Asn)
c.1367+1836C>A (n.1367+1836C>A)
c.1531C>A (p.His511Asn)
c.1189C>A (p.His397Asn)
c.1333C>A (p.His445Asn)
c.-4294965639C>A
c.1207C>A (p.His403Asn)
c.1135C>A (p.His379Asn)
7g.140017696C>GCA369519802TBXAS1c.1390C>G (p.His464Asp)
c.1364+1836C>G (n.1364+1836C>G)
c.*1179C>G (n.*1179C>G)
c.1528C>G (p.His510Asp)
c.1393C>G (p.His465Asp)
c.1367+1836C>G (n.1367+1836C>G)
c.1531C>G (p.His511Asp)
c.1189C>G (p.His397Asp)
c.1333C>G (p.His445Asp)
c.-4294965639C>G
c.1207C>G (p.His403Asp)
c.1135C>G (p.His379Asp)
7g.140017696C>TCA369519805TBXAS1c.1390C>T (p.His464Tyr)
c.1364+1836C>T (n.1364+1836C>T)
c.*1179C>T (n.*1179C>T)
c.1528C>T (p.His510Tyr)
c.1393C>T (p.His465Tyr)
c.1367+1836C>T (n.1367+1836C>T)
c.1531C>T (p.His511Tyr)
c.1189C>T (p.His397Tyr)
c.1333C>T (p.His445Tyr)
c.-4294965639C>T
c.1207C>T (p.His403Tyr)
c.1135C>T (p.His379Tyr)
7g.140017697_140017699dupCA834151111TBXAS1c.1391_1393dup (p.His464_Arg465insHis)
c.1364+1837_1364+1839dup (n.1364+1837_1364+1839dup)
c.*1180_*1182dup (n.*1180_*1182dup)
c.1529_1531dup (p.His510_Arg511insHis)
c.1394_1396dup (p.His465_Arg466insHis)
c.1367+1837_1367+1839dup (n.1367+1837_1367+1839dup)
c.1532_1534dup (p.His511_Arg512insHis)
c.1190_1192dup (p.His397_Arg398insHis)
c.1334_1336dup (p.His445_Arg446insHis)
c.-4294965638_-4294965636dup
c.1208_1210dup (p.His403_Arg404insHis)
c.1136_1138dup (p.His379_Arg380insHis)
 dbSNP
7g.140017697A>CCA369519808TBXAS1c.1391A>C (p.His464Pro)
c.1364+1837A>C (n.1364+1837A>C)
c.*1180A>C (n.*1180A>C)
c.1529A>C (p.His510Pro)
c.1394A>C (p.His465Pro)
c.1367+1837A>C (n.1367+1837A>C)
c.1532A>C (p.His511Pro)
c.1190A>C (p.His397Pro)
c.1334A>C (p.His445Pro)
c.-4294965638A>C
c.1208A>C (p.His403Pro)
c.1136A>C (p.His379Pro)
7g.140017697A>GCA369519810TBXAS1c.1391A>G (p.His464Arg)
c.1364+1837A>G (n.1364+1837A>G)
c.*1180A>G (n.*1180A>G)
c.1529A>G (p.His510Arg)
c.1394A>G (p.His465Arg)
c.1367+1837A>G (n.1367+1837A>G)
c.1532A>G (p.His511Arg)
c.1190A>G (p.His397Arg)
c.1334A>G (p.His445Arg)
c.-4294965638A>G
c.1208A>G (p.His403Arg)
c.1136A>G (p.His379Arg)
7g.140017697A>TCA369519812TBXAS1c.1391A>T (p.His464Leu)
c.1364+1837A>T (n.1364+1837A>T)
c.*1180A>T (n.*1180A>T)
c.1529A>T (p.His510Leu)
c.1394A>T (p.His465Leu)
c.1367+1837A>T (n.1367+1837A>T)
c.1532A>T (p.His511Leu)
c.1190A>T (p.His397Leu)
c.1334A>T (p.His445Leu)
c.-4294965638A>T
c.1208A>T (p.His403Leu)
c.1136A>T (p.His379Leu)
7g.140017698C>ACA369519814TBXAS1c.1392C>A (p.His464Gln)
c.1364+1838C>A (n.1364+1838C>A)
c.*1181C>A (n.*1181C>A)
c.1530C>A (p.His510Gln)
c.1395C>A (p.His465Gln)
c.1367+1838C>A (n.1367+1838C>A)
c.1533C>A (p.His511Gln)
c.1191C>A (p.His397Gln)
c.1335C>A (p.His445Gln)
c.-4294965637C>A
c.1209C>A (p.His403Gln)
c.1137C>A (p.His379Gln)
 gnomAD v4 COSMIC COSMIC
7g.140017698C>GCA369519817TBXAS1c.1392C>G (p.His464Gln)
c.1364+1838C>G (n.1364+1838C>G)
c.*1181C>G (n.*1181C>G)
c.1530C>G (p.His510Gln)
c.1395C>G (p.His465Gln)
c.1367+1838C>G (n.1367+1838C>G)
c.1533C>G (p.His511Gln)
c.1191C>G (p.His397Gln)
c.1335C>G (p.His445Gln)
c.-4294965637C>G
c.1209C>G (p.His403Gln)
c.1137C>G (p.His379Gln)
7g.140017698C>TCA457968016TBXAS1c.1392C>T (p.His464=)
c.1364+1838C>T (n.1364+1838C>T)
c.*1181C>T (n.*1181C>T)
c.1530C>T (p.His510=)
c.1395C>T (p.His465=)
c.1367+1838C>T (n.1367+1838C>T)
c.1533C>T (p.His511=)
c.1191C>T (p.His397=)
c.1335C>T (p.His445=)
c.-4294965637C>T
c.1209C>T (p.His403=)
c.1137C>T (p.His379=)
7g.140017699C>ACA457968017TBXAS1c.1393C>A (p.Arg465=)
c.1364+1839C>A (n.1364+1839C>A)
c.*1182C>A (n.*1182C>A)
c.1531C>A (p.Arg511=)
c.1396C>A (p.Arg466=)
c.1367+1839C>A (n.1367+1839C>A)
c.1534C>A (p.Arg512=)
c.1192C>A (p.Arg398=)
c.1336C>A (p.Arg446=)
c.-4294965636C>A
c.1210C>A (p.Arg404=)
c.1138C>A (p.Arg380=)
7g.140017699C=CA1747366678TBXAS1c.1393C= (p.Arg465=)
c.1364+1839C= (n.1364+1839C=)
c.*1182C= (n.*1182C=)
c.1531C= (p.Arg511=)
c.1396C= (p.Arg466=)
c.1367+1839C= (n.1367+1839C=)
c.1534C= (p.Arg512=)
c.1192C= (p.Arg398=)
c.1336C= (p.Arg446=)
c.-4294965636C=
c.1210C= (p.Arg404=)
c.1138C= (p.Arg380=)
7g.140017699C>GCA369519824TBXAS1c.1393C>G (p.Arg465Gly)
c.1364+1839C>G (n.1364+1839C>G)
c.*1182C>G (n.*1182C>G)
c.1531C>G (p.Arg511Gly)
c.1396C>G (p.Arg466Gly)
c.1367+1839C>G (n.1367+1839C>G)
c.1534C>G (p.Arg512Gly)
c.1192C>G (p.Arg398Gly)
c.1336C>G (p.Arg446Gly)
c.-4294965636C>G
c.1210C>G (p.Arg404Gly)
c.1138C>G (p.Arg380Gly)
7g.140017699C>TCA4512033TBXAS1c.1393C>T (p.Arg465Trp)
c.1364+1839C>T (n.1364+1839C>T)
c.*1182C>T (n.*1182C>T)
c.1531C>T (p.Arg511Trp)
c.1396C>T (p.Arg466Trp)
c.1367+1839C>T (n.1367+1839C>T)
c.1534C>T (p.Arg512Trp)
c.1192C>T (p.Arg398Trp)
c.1336C>T (p.Arg446Trp)
c.-4294965636C>T
c.1210C>T (p.Arg404Trp)
c.1138C>T (p.Arg380Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140017700G>ACA4512034TBXAS1c.1394G>A (p.Arg465Gln)
c.1364+1840G>A (n.1364+1840G>A)
c.*1183G>A (n.*1183G>A)
c.1532G>A (p.Arg511Gln)
c.1397G>A (p.Arg466Gln)
c.1367+1840G>A (n.1367+1840G>A)
c.1535G>A (p.Arg512Gln)
c.1193G>A (p.Arg398Gln)
c.1337G>A (p.Arg446Gln)
c.-4294965635G>A
c.1211G>A (p.Arg404Gln)
c.1139G>A (p.Arg380Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140017700G>CCA369519837TBXAS1c.1394G>C (p.Arg465Pro)
c.1364+1840G>C (n.1364+1840G>C)
c.*1183G>C (n.*1183G>C)
c.1532G>C (p.Arg511Pro)
c.1397G>C (p.Arg466Pro)
c.1367+1840G>C (n.1367+1840G>C)
c.1535G>C (p.Arg512Pro)
c.1193G>C (p.Arg398Pro)
c.1337G>C (p.Arg446Pro)
c.-4294965635G>C
c.1211G>C (p.Arg404Pro)
c.1139G>C (p.Arg380Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.140017700G=CA1747366679TBXAS1c.1394G= (p.Arg465=)
c.1364+1840G= (n.1364+1840G=)
c.*1183G= (n.*1183G=)
c.1532G= (p.Arg511=)
c.1397G= (p.Arg466=)
c.1367+1840G= (n.1367+1840G=)
c.1535G= (p.Arg512=)
c.1193G= (p.Arg398=)
c.1337G= (p.Arg446=)
c.-4294965635G=
c.1211G= (p.Arg404=)
c.1139G= (p.Arg380=)
7g.140017700G>TCA369519830TBXAS1c.1394G>T (p.Arg465Leu)
c.1364+1840G>T (n.1364+1840G>T)
c.*1183G>T (n.*1183G>T)
c.1532G>T (p.Arg511Leu)
c.1397G>T (p.Arg466Leu)
c.1367+1840G>T (n.1367+1840G>T)
c.1535G>T (p.Arg512Leu)
c.1193G>T (p.Arg398Leu)
c.1337G>T (p.Arg446Leu)
c.-4294965635G>T
c.1211G>T (p.Arg404Leu)
c.1139G>T (p.Arg380Leu)
7g.140017701G>ACA457968019TBXAS1c.1395G>A (p.Arg465=)
c.1364+1841G>A (n.1364+1841G>A)
c.*1184G>A (n.*1184G>A)
c.1533G>A (p.Arg511=)
c.1398G>A (p.Arg466=)
c.1367+1841G>A (n.1367+1841G>A)
c.1536G>A (p.Arg512=)
c.1194G>A (p.Arg398=)
c.1338G>A (p.Arg446=)
c.-4294965634G>A
c.1212G>A (p.Arg404=)
c.1140G>A (p.Arg380=)
 dbSNP gnomAD v4
7g.140017701G>CCA457968020TBXAS1c.1395G>C (p.Arg465=)
c.1364+1841G>C (n.1364+1841G>C)
c.*1184G>C (n.*1184G>C)
c.1533G>C (p.Arg511=)
c.1398G>C (p.Arg466=)
c.1367+1841G>C (n.1367+1841G>C)
c.1536G>C (p.Arg512=)
c.1194G>C (p.Arg398=)
c.1338G>C (p.Arg446=)
c.-4294965634G>C
c.1212G>C (p.Arg404=)
c.1140G>C (p.Arg380=)
7g.140017701G=CA1747366680TBXAS1c.1395G= (p.Arg465=)
c.1364+1841G= (n.1364+1841G=)
c.*1184G= (n.*1184G=)
c.1533G= (p.Arg511=)
c.1398G= (p.Arg466=)
c.1367+1841G= (n.1367+1841G=)
c.1536G= (p.Arg512=)
c.1194G= (p.Arg398=)
c.1338G= (p.Arg446=)
c.-4294965634G=
c.1212G= (p.Arg404=)
c.1140G= (p.Arg380=)
7g.140017701G>TCA457968018TBXAS1c.1395G>T (p.Arg465=)
c.1364+1841G>T (n.1364+1841G>T)
c.*1184G>T (n.*1184G>T)
c.1533G>T (p.Arg511=)
c.1398G>T (p.Arg466=)
c.1367+1841G>T (n.1367+1841G>T)
c.1536G>T (p.Arg512=)
c.1194G>T (p.Arg398=)
c.1338G>T (p.Arg446=)
c.-4294965634G>T
c.1212G>T (p.Arg404=)
c.1140G>T (p.Arg380=)
7g.140017708_140017722dupCA4512035TBXAS1c.1402_1416dup (p.Phe472_Gly473insThrTyrLeuProPhe)
c.1364+1848_1364+1862dup (n.1364+1848_1364+1862dup)
c.*1191_*1205dup (n.*1191_*1205dup)
c.1540_1554dup (p.Phe518_Gly519insThrTyrLeuProPhe)
c.1405_1419dup (p.Phe473_Gly474insThrTyrLeuProPhe)
c.1367+1848_1367+1862dup (n.1367+1848_1367+1862dup)
c.1543_1557dup (p.Phe519_Gly520insThrTyrLeuProPhe)
c.1201_1215dup (p.Phe405_Gly406insThrTyrLeuProPhe)
c.1345_1359dup (p.Phe453_Gly454insThrTyrLeuProPhe)
c.-4294965627_-4294965613dup
c.1219_1233dup (p.Phe411_Gly412insThrTyrLeuProPhe)
c.1147_1161dup (p.Phe387_Gly388insThrTyrLeuProPhe)
 dbSNP ExAC gnomAD v2
7g.140017702C>ACA369519842TBXAS1c.1396C>A (p.Pro466Thr)
c.1364+1842C>A (n.1364+1842C>A)
c.*1185C>A (n.*1185C>A)
c.1534C>A (p.Pro512Thr)
c.1399C>A (p.Pro467Thr)
c.1367+1842C>A (n.1367+1842C>A)
c.1537C>A (p.Pro513Thr)
c.1195C>A (p.Pro399Thr)
c.1339C>A (p.Pro447Thr)
c.-4294965633C>A
c.1213C>A (p.Pro405Thr)
c.1141C>A (p.Pro381Thr)
7g.140017702C>GCA369519844TBXAS1c.1396C>G (p.Pro466Ala)
c.1364+1842C>G (n.1364+1842C>G)
c.*1185C>G (n.*1185C>G)
c.1534C>G (p.Pro512Ala)
c.1399C>G (p.Pro467Ala)
c.1367+1842C>G (n.1367+1842C>G)
c.1537C>G (p.Pro513Ala)
c.1195C>G (p.Pro399Ala)
c.1339C>G (p.Pro447Ala)
c.-4294965633C>G
c.1213C>G (p.Pro405Ala)
c.1141C>G (p.Pro381Ala)
7g.140017702C>TCA369519845TBXAS1c.1396C>T (p.Pro466Ser)
c.1364+1842C>T (n.1364+1842C>T)
c.*1185C>T (n.*1185C>T)
c.1534C>T (p.Pro512Ser)
c.1399C>T (p.Pro467Ser)
c.1367+1842C>T (n.1367+1842C>T)
c.1537C>T (p.Pro513Ser)
c.1195C>T (p.Pro399Ser)
c.1339C>T (p.Pro447Ser)
c.-4294965633C>T
c.1213C>T (p.Pro405Ser)
c.1141C>T (p.Pro381Ser)
7g.140017703C>ACA369519848TBXAS1c.1397C>A (p.Pro466His)
c.1364+1843C>A (n.1364+1843C>A)
c.*1186C>A (n.*1186C>A)
c.1535C>A (p.Pro512His)
c.1400C>A (p.Pro467His)
c.1367+1843C>A (n.1367+1843C>A)
c.1538C>A (p.Pro513His)
c.1196C>A (p.Pro399His)
c.1340C>A (p.Pro447His)
c.-4294965632C>A
c.1214C>A (p.Pro405His)
c.1142C>A (p.Pro381His)
7g.140017703C>GCA369519849TBXAS1c.1397C>G (p.Pro466Arg)
c.1364+1843C>G (n.1364+1843C>G)
c.*1186C>G (n.*1186C>G)
c.1535C>G (p.Pro512Arg)
c.1400C>G (p.Pro467Arg)
c.1367+1843C>G (n.1367+1843C>G)
c.1538C>G (p.Pro513Arg)
c.1196C>G (p.Pro399Arg)
c.1340C>G (p.Pro447Arg)
c.-4294965632C>G
c.1214C>G (p.Pro405Arg)
c.1142C>G (p.Pro381Arg)
7g.140017703C>TCA369519850TBXAS1c.1397C>T (p.Pro466Leu)
c.1364+1843C>T (n.1364+1843C>T)
c.*1186C>T (n.*1186C>T)
c.1535C>T (p.Pro512Leu)
c.1400C>T (p.Pro467Leu)
c.1367+1843C>T (n.1367+1843C>T)
c.1538C>T (p.Pro513Leu)
c.1196C>T (p.Pro399Leu)
c.1340C>T (p.Pro447Leu)
c.-4294965632C>T
c.1214C>T (p.Pro405Leu)
c.1142C>T (p.Pro381Leu)
 gnomAD v4
7g.140017704C>ACA457968021TBXAS1c.1398C>A (p.Pro466=)
c.1364+1844C>A (n.1364+1844C>A)
c.*1187C>A (n.*1187C>A)
c.1536C>A (p.Pro512=)
c.1401C>A (p.Pro467=)
c.1367+1844C>A (n.1367+1844C>A)
c.1539C>A (p.Pro513=)
c.1197C>A (p.Pro399=)
c.1341C>A (p.Pro447=)
c.-4294965631C>A
c.1215C>A (p.Pro405=)
c.1143C>A (p.Pro381=)
7g.140017704C>GCA457968022TBXAS1c.1398C>G (p.Pro466=)
c.1364+1844C>G (n.1364+1844C>G)
c.*1187C>G (n.*1187C>G)
c.1536C>G (p.Pro512=)
c.1401C>G (p.Pro467=)
c.1367+1844C>G (n.1367+1844C>G)
c.1539C>G (p.Pro513=)
c.1197C>G (p.Pro399=)
c.1341C>G (p.Pro447=)
c.-4294965631C>G
c.1215C>G (p.Pro405=)
c.1143C>G (p.Pro381=)
7g.140017704C>TCA457968023TBXAS1c.1398C>T (p.Pro466=)
c.1364+1844C>T (n.1364+1844C>T)
c.*1187C>T (n.*1187C>T)
c.1536C>T (p.Pro512=)
c.1401C>T (p.Pro467=)
c.1367+1844C>T (n.1367+1844C>T)
c.1539C>T (p.Pro513=)
c.1197C>T (p.Pro399=)
c.1341C>T (p.Pro447=)
c.-4294965631C>T
c.1215C>T (p.Pro405=)
c.1143C>T (p.Pro381=)
7g.140017705T>ACA369519858TBXAS1c.1399T>A (p.Phe467Ile)
c.1364+1845T>A (n.1364+1845T>A)
c.*1188T>A (n.*1188T>A)
c.1537T>A (p.Phe513Ile)
c.1402T>A (p.Phe468Ile)
c.1367+1845T>A (n.1367+1845T>A)
c.1540T>A (p.Phe514Ile)
c.1198T>A (p.Phe400Ile)
c.1342T>A (p.Phe448Ile)
c.-4294965630T>A
c.1216T>A (p.Phe406Ile)
c.1144T>A (p.Phe382Ile)
7g.140017705T>CCA369519853TBXAS1c.1399T>C (p.Phe467Leu)
c.1364+1845T>C (n.1364+1845T>C)
c.*1188T>C (n.*1188T>C)
c.1537T>C (p.Phe513Leu)
c.1402T>C (p.Phe468Leu)
c.1367+1845T>C (n.1367+1845T>C)
c.1540T>C (p.Phe514Leu)
c.1198T>C (p.Phe400Leu)
c.1342T>C (p.Phe448Leu)
c.-4294965630T>C
c.1216T>C (p.Phe406Leu)
c.1144T>C (p.Phe382Leu)
7g.140017705T>GCA369519855TBXAS1c.1399T>G (p.Phe467Val)
c.1364+1845T>G (n.1364+1845T>G)
c.*1188T>G (n.*1188T>G)
c.1537T>G (p.Phe513Val)
c.1402T>G (p.Phe468Val)
c.1367+1845T>G (n.1367+1845T>G)
c.1540T>G (p.Phe514Val)
c.1198T>G (p.Phe400Val)
c.1342T>G (p.Phe448Val)
c.-4294965630T>G
c.1216T>G (p.Phe406Val)
c.1144T>G (p.Phe382Val)
7g.140017706T>ACA369519859TBXAS1c.1400T>A (p.Phe467Tyr)
c.1364+1846T>A (n.1364+1846T>A)
c.*1189T>A (n.*1189T>A)
c.1538T>A (p.Phe513Tyr)
c.1403T>A (p.Phe468Tyr)
c.1367+1846T>A (n.1367+1846T>A)
c.1541T>A (p.Phe514Tyr)
c.1199T>A (p.Phe400Tyr)
c.1343T>A (p.Phe448Tyr)
c.-4294965629T>A
c.1217T>A (p.Phe406Tyr)
c.1145T>A (p.Phe382Tyr)
7g.140017706T>CCA369519861TBXAS1c.1400T>C (p.Phe467Ser)
c.1364+1846T>C (n.1364+1846T>C)
c.*1189T>C (n.*1189T>C)
c.1538T>C (p.Phe513Ser)
c.1403T>C (p.Phe468Ser)
c.1367+1846T>C (n.1367+1846T>C)
c.1541T>C (p.Phe514Ser)
c.1199T>C (p.Phe400Ser)
c.1343T>C (p.Phe448Ser)
c.-4294965629T>C
c.1217T>C (p.Phe406Ser)
c.1145T>C (p.Phe382Ser)
7g.140017706T>GCA369519863TBXAS1c.1400T>G (p.Phe467Cys)
c.1364+1846T>G (n.1364+1846T>G)
c.*1189T>G (n.*1189T>G)
c.1538T>G (p.Phe513Cys)
c.1403T>G (p.Phe468Cys)
c.1367+1846T>G (n.1367+1846T>G)
c.1541T>G (p.Phe514Cys)
c.1199T>G (p.Phe400Cys)
c.1343T>G (p.Phe448Cys)
c.-4294965629T>G
c.1217T>G (p.Phe406Cys)
c.1145T>G (p.Phe382Cys)
7g.140017707C>ACA369519868TBXAS1c.1401C>A (p.Phe467Leu)
c.1364+1847C>A (n.1364+1847C>A)
c.*1190C>A (n.*1190C>A)
c.1539C>A (p.Phe513Leu)
c.1404C>A (p.Phe468Leu)
c.1367+1847C>A (n.1367+1847C>A)
c.1542C>A (p.Phe514Leu)
c.1200C>A (p.Phe400Leu)
c.1344C>A (p.Phe448Leu)
c.-4294965628C>A
c.1218C>A (p.Phe406Leu)
c.1146C>A (p.Phe382Leu)
7g.140017707C=CA1747366681TBXAS1c.1401C= (p.Phe467=)
c.1364+1847C= (n.1364+1847C=)
c.*1190C= (n.*1190C=)
c.1539C= (p.Phe513=)
c.1404C= (p.Phe468=)
c.1367+1847C= (n.1367+1847C=)
c.1542C= (p.Phe514=)
c.1200C= (p.Phe400=)
c.1344C= (p.Phe448=)
c.-4294965628C=
c.1218C= (p.Phe406=)
c.1146C= (p.Phe382=)
7g.140017707C>GCA369519871TBXAS1c.1401C>G (p.Phe467Leu)
c.1364+1847C>G (n.1364+1847C>G)
c.*1190C>G (n.*1190C>G)
c.1539C>G (p.Phe513Leu)
c.1404C>G (p.Phe468Leu)
c.1367+1847C>G (n.1367+1847C>G)
c.1542C>G (p.Phe514Leu)
c.1200C>G (p.Phe400Leu)
c.1344C>G (p.Phe448Leu)
c.-4294965628C>G
c.1218C>G (p.Phe406Leu)
c.1146C>G (p.Phe382Leu)
7g.140017707C>TCA457968024TBXAS1c.1401C>T (p.Phe467=)
c.1364+1847C>T (n.1364+1847C>T)
c.*1190C>T (n.*1190C>T)
c.1539C>T (p.Phe513=)
c.1404C>T (p.Phe468=)
c.1367+1847C>T (n.1367+1847C>T)
c.1542C>T (p.Phe514=)
c.1200C>T (p.Phe400=)
c.1344C>T (p.Phe448=)
c.-4294965628C>T
c.1218C>T (p.Phe406=)
c.1146C>T (p.Phe382=)
 dbSNP gnomAD v2 gnomAD v4
7g.140017708A=CA1747366682TBXAS1c.1402A= (p.Thr468=)
c.1364+1848A= (n.1364+1848A=)
c.*1191A= (n.*1191A=)
c.1540A= (p.Thr514=)
c.1405A= (p.Thr469=)
c.1367+1848A= (n.1367+1848A=)
c.1543A= (p.Thr515=)
c.1201A= (p.Thr401=)
c.1345A= (p.Thr449=)
c.-4294965627A=
c.1219A= (p.Thr407=)
c.1147A= (p.Thr383=)
7g.140017708A>CCA369519874TBXAS1c.1402A>C (p.Thr468Pro)
c.1364+1848A>C (n.1364+1848A>C)
c.*1191A>C (n.*1191A>C)
c.1540A>C (p.Thr514Pro)
c.1405A>C (p.Thr469Pro)
c.1367+1848A>C (n.1367+1848A>C)
c.1543A>C (p.Thr515Pro)
c.1201A>C (p.Thr401Pro)
c.1345A>C (p.Thr449Pro)
c.-4294965627A>C
c.1219A>C (p.Thr407Pro)
c.1147A>C (p.Thr383Pro)
 dbSNP gnomAD v2 gnomAD v4
7g.140017708A>GCA369519876TBXAS1c.1402A>G (p.Thr468Ala)
c.1364+1848A>G (n.1364+1848A>G)
c.*1191A>G (n.*1191A>G)
c.1540A>G (p.Thr514Ala)
c.1405A>G (p.Thr469Ala)
c.1367+1848A>G (n.1367+1848A>G)
c.1543A>G (p.Thr515Ala)
c.1201A>G (p.Thr401Ala)
c.1345A>G (p.Thr449Ala)
c.-4294965627A>G
c.1219A>G (p.Thr407Ala)
c.1147A>G (p.Thr383Ala)
7g.140017708A>TCA369519875TBXAS1c.1402A>T (p.Thr468Ser)
c.1364+1848A>T (n.1364+1848A>T)
c.*1191A>T (n.*1191A>T)
c.1540A>T (p.Thr514Ser)
c.1405A>T (p.Thr469Ser)
c.1367+1848A>T (n.1367+1848A>T)
c.1543A>T (p.Thr515Ser)
c.1201A>T (p.Thr401Ser)
c.1345A>T (p.Thr449Ser)
c.-4294965627A>T
c.1219A>T (p.Thr407Ser)
c.1147A>T (p.Thr383Ser)
7g.140017709C>ACA369519879TBXAS1c.1403C>A (p.Thr468Lys)
c.1364+1849C>A (n.1364+1849C>A)
c.*1192C>A (n.*1192C>A)
c.1541C>A (p.Thr514Lys)
c.1406C>A (p.Thr469Lys)
c.1367+1849C>A (n.1367+1849C>A)
c.1544C>A (p.Thr515Lys)
c.1202C>A (p.Thr401Lys)
c.1346C>A (p.Thr449Lys)
c.-4294965626C>A
c.1220C>A (p.Thr407Lys)
c.1148C>A (p.Thr383Lys)
7g.140017709C=CA1747366683TBXAS1c.1403C= (p.Thr468=)
c.1364+1849C= (n.1364+1849C=)
c.*1192C= (n.*1192C=)
c.1541C= (p.Thr514=)
c.1406C= (p.Thr469=)
c.1367+1849C= (n.1367+1849C=)
c.1544C= (p.Thr515=)
c.1202C= (p.Thr401=)
c.1346C= (p.Thr449=)
c.-4294965626C=
c.1220C= (p.Thr407=)
c.1148C= (p.Thr383=)
7g.140017709C>GCA369519886TBXAS1c.1403C>G (p.Thr468Arg)
c.1364+1849C>G (n.1364+1849C>G)
c.*1192C>G (n.*1192C>G)
c.1541C>G (p.Thr514Arg)
c.1406C>G (p.Thr469Arg)
c.1367+1849C>G (n.1367+1849C>G)
c.1544C>G (p.Thr515Arg)
c.1202C>G (p.Thr401Arg)
c.1346C>G (p.Thr449Arg)
c.-4294965626C>G
c.1220C>G (p.Thr407Arg)
c.1148C>G (p.Thr383Arg)
7g.140017709C>TCA4512036TBXAS1c.1403C>T (p.Thr468Met)
c.1364+1849C>T (n.1364+1849C>T)
c.*1192C>T (n.*1192C>T)
c.1541C>T (p.Thr514Met)
c.1406C>T (p.Thr469Met)
c.1367+1849C>T (n.1367+1849C>T)
c.1544C>T (p.Thr515Met)
c.1202C>T (p.Thr401Met)
c.1346C>T (p.Thr449Met)
c.-4294965626C>T
c.1220C>T (p.Thr407Met)
c.1148C>T (p.Thr383Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140017710G>ACA4512037TBXAS1c.1404G>A (p.Thr468=)
c.1364+1850G>A (n.1364+1850G>A)
c.*1193G>A (n.*1193G>A)
c.1542G>A (p.Thr514=)
c.1407G>A (p.Thr469=)
c.1367+1850G>A (n.1367+1850G>A)
c.1545G>A (p.Thr515=)
c.1203G>A (p.Thr401=)
c.1347G>A (p.Thr449=)
c.-4294965625G>A
c.1221G>A (p.Thr407=)
c.1149G>A (p.Thr383=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140017710G>CCA457968026TBXAS1c.1404G>C (p.Thr468=)
c.1364+1850G>C (n.1364+1850G>C)
c.*1193G>C (n.*1193G>C)
c.1542G>C (p.Thr514=)
c.1407G>C (p.Thr469=)
c.1367+1850G>C (n.1367+1850G>C)
c.1545G>C (p.Thr515=)
c.1203G>C (p.Thr401=)
c.1347G>C (p.Thr449=)
c.-4294965625G>C
c.1221G>C (p.Thr407=)
c.1149G>C (p.Thr383=)
7g.140017710G=CA1747366684TBXAS1c.1404G= (p.Thr468=)
c.1364+1850G= (n.1364+1850G=)
c.*1193G= (n.*1193G=)
c.1542G= (p.Thr514=)
c.1407G= (p.Thr469=)
c.1367+1850G= (n.1367+1850G=)
c.1545G= (p.Thr515=)
c.1203G= (p.Thr401=)
c.1347G= (p.Thr449=)
c.-4294965625G=
c.1221G= (p.Thr407=)
c.1149G= (p.Thr383=)
7g.140017710G>TCA457968025TBXAS1c.1404G>T (p.Thr468=)
c.1364+1850G>T (n.1364+1850G>T)
c.*1193G>T (n.*1193G>T)
c.1542G>T (p.Thr514=)
c.1407G>T (p.Thr469=)
c.1367+1850G>T (n.1367+1850G>T)
c.1545G>T (p.Thr515=)
c.1203G>T (p.Thr401=)
c.1347G>T (p.Thr449=)
c.-4294965625G>T
c.1221G>T (p.Thr407=)
c.1149G>T (p.Thr383=)
7g.140017711T>ACA369519904TBXAS1c.1405T>A (p.Tyr469Asn)
c.1364+1851T>A (n.1364+1851T>A)
c.*1194T>A (n.*1194T>A)
c.1543T>A (p.Tyr515Asn)
c.1408T>A (p.Tyr470Asn)
c.1367+1851T>A (n.1367+1851T>A)
c.1546T>A (p.Tyr516Asn)
c.1204T>A (p.Tyr402Asn)
c.1348T>A (p.Tyr450Asn)
c.-4294965624T>A
c.1222T>A (p.Tyr408Asn)
c.1150T>A (p.Tyr384Asn)
7g.140017711T>CCA369519906TBXAS1c.1405T>C (p.Tyr469His)
c.1364+1851T>C (n.1364+1851T>C)
c.*1194T>C (n.*1194T>C)
c.1543T>C (p.Tyr515His)
c.1408T>C (p.Tyr470His)
c.1367+1851T>C (n.1367+1851T>C)
c.1546T>C (p.Tyr516His)
c.1204T>C (p.Tyr402His)
c.1348T>C (p.Tyr450His)
c.-4294965624T>C
c.1222T>C (p.Tyr408His)
c.1150T>C (p.Tyr384His)
7g.140017711T>GCA369519909TBXAS1c.1405T>G (p.Tyr469Asp)
c.1364+1851T>G (n.1364+1851T>G)
c.*1194T>G (n.*1194T>G)
c.1543T>G (p.Tyr515Asp)
c.1408T>G (p.Tyr470Asp)
c.1367+1851T>G (n.1367+1851T>G)
c.1546T>G (p.Tyr516Asp)
c.1204T>G (p.Tyr402Asp)
c.1348T>G (p.Tyr450Asp)
c.-4294965624T>G
c.1222T>G (p.Tyr408Asp)
c.1150T>G (p.Tyr384Asp)
7g.140017712A=CA1747366685TBXAS1c.1406A= (p.Tyr469=)
c.1364+1852A= (n.1364+1852A=)
c.*1195A= (n.*1195A=)
c.1544A= (p.Tyr515=)
c.1409A= (p.Tyr470=)
c.1367+1852A= (n.1367+1852A=)
c.1547A= (p.Tyr516=)
c.1205A= (p.Tyr402=)
c.1349A= (p.Tyr450=)
c.-4294965623A=
c.1223A= (p.Tyr408=)
c.1151A= (p.Tyr384=)
7g.140017712A>CCA369519913TBXAS1c.1406A>C (p.Tyr469Ser)
c.1364+1852A>C (n.1364+1852A>C)
c.*1195A>C (n.*1195A>C)
c.1544A>C (p.Tyr515Ser)
c.1409A>C (p.Tyr470Ser)
c.1367+1852A>C (n.1367+1852A>C)
c.1547A>C (p.Tyr516Ser)
c.1205A>C (p.Tyr402Ser)
c.1349A>C (p.Tyr450Ser)
c.-4294965623A>C
c.1223A>C (p.Tyr408Ser)
c.1151A>C (p.Tyr384Ser)
7g.140017712A>GCA369519917TBXAS1c.1406A>G (p.Tyr469Cys)
c.1364+1852A>G (n.1364+1852A>G)
c.*1195A>G (n.*1195A>G)
c.1544A>G (p.Tyr515Cys)
c.1409A>G (p.Tyr470Cys)
c.1367+1852A>G (n.1367+1852A>G)
c.1547A>G (p.Tyr516Cys)
c.1205A>G (p.Tyr402Cys)
c.1349A>G (p.Tyr450Cys)
c.-4294965623A>G
c.1223A>G (p.Tyr408Cys)
c.1151A>G (p.Tyr384Cys)
 dbSNP gnomAD v2 gnomAD v4
7g.140017712A>TCA369519920TBXAS1c.1406A>T (p.Tyr469Phe)
c.1364+1852A>T (n.1364+1852A>T)
c.*1195A>T (n.*1195A>T)
c.1544A>T (p.Tyr515Phe)
c.1409A>T (p.Tyr470Phe)
c.1367+1852A>T (n.1367+1852A>T)
c.1547A>T (p.Tyr516Phe)
c.1205A>T (p.Tyr402Phe)
c.1349A>T (p.Tyr450Phe)
c.-4294965623A>T
c.1223A>T (p.Tyr408Phe)
c.1151A>T (p.Tyr384Phe)
7g.140017713C>ACA369519938TBXAS1c.1407C>A (p.Tyr469Ter)
c.1364+1853C>A (n.1364+1853C>A)
c.*1196C>A (n.*1196C>A)
c.1545C>A (p.Tyr515Ter)
c.1410C>A (p.Tyr470Ter)
c.1367+1853C>A (n.1367+1853C>A)
c.1548C>A (p.Tyr516Ter)
c.1206C>A (p.Tyr402Ter)
c.1350C>A (p.Tyr450Ter)
c.-4294965622C>A
c.1224C>A (p.Tyr408Ter)
c.1152C>A (p.Tyr384Ter)
7g.140017713C>GCA369519939TBXAS1c.1407C>G (p.Tyr469Ter)
c.1364+1853C>G (n.1364+1853C>G)
c.*1196C>G (n.*1196C>G)
c.1545C>G (p.Tyr515Ter)
c.1410C>G (p.Tyr470Ter)
c.1367+1853C>G (n.1367+1853C>G)
c.1548C>G (p.Tyr516Ter)
c.1206C>G (p.Tyr402Ter)
c.1350C>G (p.Tyr450Ter)
c.-4294965622C>G
c.1224C>G (p.Tyr408Ter)
c.1152C>G (p.Tyr384Ter)
7g.140017713C>TCA457968027TBXAS1c.1407C>T (p.Tyr469=)
c.1364+1853C>T (n.1364+1853C>T)
c.*1196C>T (n.*1196C>T)
c.1545C>T (p.Tyr515=)
c.1410C>T (p.Tyr470=)
c.1367+1853C>T (n.1367+1853C>T)
c.1548C>T (p.Tyr516=)
c.1206C>T (p.Tyr402=)
c.1350C>T (p.Tyr450=)
c.-4294965622C>T
c.1224C>T (p.Tyr408=)
c.1152C>T (p.Tyr384=)
7g.140017714C>ACA369519940TBXAS1c.1408C>A (p.Leu470Met)
c.1364+1854C>A (n.1364+1854C>A)
c.*1197C>A (n.*1197C>A)
c.1546C>A (p.Leu516Met)
c.1411C>A (p.Leu471Met)
c.1367+1854C>A (n.1367+1854C>A)
c.1549C>A (p.Leu517Met)
c.1207C>A (p.Leu403Met)
c.1351C>A (p.Leu451Met)
c.-4294965621C>A
c.1225C>A (p.Leu409Met)
c.1153C>A (p.Leu385Met)
7g.140017714C>GCA369519943TBXAS1c.1408C>G (p.Leu470Val)
c.1364+1854C>G (n.1364+1854C>G)
c.*1197C>G (n.*1197C>G)
c.1546C>G (p.Leu516Val)
c.1411C>G (p.Leu471Val)
c.1367+1854C>G (n.1367+1854C>G)
c.1549C>G (p.Leu517Val)
c.1207C>G (p.Leu403Val)
c.1351C>G (p.Leu451Val)
c.-4294965621C>G
c.1225C>G (p.Leu409Val)
c.1153C>G (p.Leu385Val)
7g.140017714C>TCA457968028TBXAS1c.1408C>T (p.Leu470=)
c.1364+1854C>T (n.1364+1854C>T)
c.*1197C>T (n.*1197C>T)
c.1546C>T (p.Leu516=)
c.1411C>T (p.Leu471=)
c.1367+1854C>T (n.1367+1854C>T)
c.1549C>T (p.Leu517=)
c.1207C>T (p.Leu403=)
c.1351C>T (p.Leu451=)
c.-4294965621C>T
c.1225C>T (p.Leu409=)
c.1153C>T (p.Leu385=)
7g.140017715T>ACA369519962TBXAS1c.1409T>A (p.Leu470Gln)
c.1364+1855T>A (n.1364+1855T>A)
c.*1198T>A (n.*1198T>A)
c.1547T>A (p.Leu516Gln)
c.1412T>A (p.Leu471Gln)
c.1367+1855T>A (n.1367+1855T>A)
c.1550T>A (p.Leu517Gln)
c.1208T>A (p.Leu403Gln)
c.1352T>A (p.Leu451Gln)
c.-4294965620T>A
c.1226T>A (p.Leu409Gln)
c.1154T>A (p.Leu385Gln)
7g.140017715T>CCA369519967TBXAS1c.1409T>C (p.Leu470Pro)
c.1364+1855T>C (n.1364+1855T>C)
c.*1198T>C (n.*1198T>C)
c.1547T>C (p.Leu516Pro)
c.1412T>C (p.Leu471Pro)
c.1367+1855T>C (n.1367+1855T>C)
c.1550T>C (p.Leu517Pro)
c.1208T>C (p.Leu403Pro)
c.1352T>C (p.Leu451Pro)
c.-4294965620T>C
c.1226T>C (p.Leu409Pro)
c.1154T>C (p.Leu385Pro)
7g.140017715T>GCA369519969TBXAS1c.1409T>G (p.Leu470Arg)
c.1364+1855T>G (n.1364+1855T>G)
c.*1198T>G (n.*1198T>G)
c.1547T>G (p.Leu516Arg)
c.1412T>G (p.Leu471Arg)
c.1367+1855T>G (n.1367+1855T>G)
c.1550T>G (p.Leu517Arg)
c.1208T>G (p.Leu403Arg)
c.1352T>G (p.Leu451Arg)
c.-4294965620T>G
c.1226T>G (p.Leu409Arg)
c.1154T>G (p.Leu385Arg)
7g.140017716G>ACA457968029TBXAS1c.1410G>A (p.Leu470=)
c.1364+1856G>A (n.1364+1856G>A)
c.*1199G>A (n.*1199G>A)
c.1548G>A (p.Leu516=)
c.1413G>A (p.Leu471=)
c.1367+1856G>A (n.1367+1856G>A)
c.1551G>A (p.Leu517=)
c.1209G>A (p.Leu403=)
c.1353G>A (p.Leu451=)
c.-4294965619G>A
c.1227G>A (p.Leu409=)
c.1155G>A (p.Leu385=)
7g.140017716G>CCA457968030TBXAS1c.1410G>C (p.Leu470=)
c.1364+1856G>C (n.1364+1856G>C)
c.*1199G>C (n.*1199G>C)
c.1548G>C (p.Leu516=)
c.1413G>C (p.Leu471=)
c.1367+1856G>C (n.1367+1856G>C)
c.1551G>C (p.Leu517=)
c.1209G>C (p.Leu403=)
c.1353G>C (p.Leu451=)
c.-4294965619G>C
c.1227G>C (p.Leu409=)
c.1155G>C (p.Leu385=)
7g.140017716G>TCA457968031TBXAS1c.1410G>T (p.Leu470=)
c.1364+1856G>T (n.1364+1856G>T)
c.*1199G>T (n.*1199G>T)
c.1548G>T (p.Leu516=)
c.1413G>T (p.Leu471=)
c.1367+1856G>T (n.1367+1856G>T)
c.1551G>T (p.Leu517=)
c.1209G>T (p.Leu403=)
c.1353G>T (p.Leu451=)
c.-4294965619G>T
c.1227G>T (p.Leu409=)
c.1155G>T (p.Leu385=)
7g.140017716_140017721delinsGCCCTTCA1747366686TBXAS1c.1410_1415delinsGCCCTT (p.Leu470=)
c.1364+1856_1364+1861delinsGCCCTT (n.1364+1856_1364+1861delinsGCCCTT)
c.*1199_*1204delinsGCCCTT (n.*1199_*1204delinsGCCCTT)
c.1548_1553delinsGCCCTT (p.Leu516=)
c.1413_1418delinsGCCCTT (p.Leu471=)
c.1367+1856_1367+1861delinsGCCCTT (n.1367+1856_1367+1861delinsGCCCTT)
c.1551_1556delinsGCCCTT (p.Leu517=)
c.1209_1214delinsGCCCTT (p.Leu403=)
c.1353_1358delinsGCCCTT (p.Leu451=)
c.-4294965619_-4294965614delinsGCCCTT
c.1227_1232delinsGCCCTT (p.Leu409=)
c.1155_1160delinsGCCCTT (p.Leu385=)
7g.140017717_140017747delCA2685192353TBXAS1c.1411_1441del (p.Pro471GlyfsTer4)
c.1364+1857_1364+1887del (n.1364+1857_1364+1887del)
c.*1200_*1230del (n.*1200_*1230del)
c.1549_1579del (p.Pro517GlyfsTer4)
c.1414_1444del (p.Pro472GlyfsTer4)
c.1367+1857_1367+1887del (n.1367+1857_1367+1887del)
c.1552_1582del (p.Pro518GlyfsTer4)
c.1210_1240del (p.Pro404GlyfsTer4)
c.1354_1384del (p.Pro452GlyfsTer4)
c.-4294965618_-4294965588del
c.1228_1258del (p.Pro410GlyfsTer4)
c.1156_1186del (p.Pro386GlyfsTer4)
 gnomAD v4
7g.140017717C>ACA369519989TBXAS1c.1411C>A (p.Pro471Thr)
c.1364+1857C>A (n.1364+1857C>A)
c.*1200C>A (n.*1200C>A)
c.1549C>A (p.Pro517Thr)
c.1414C>A (p.Pro472Thr)
c.1367+1857C>A (n.1367+1857C>A)
c.1552C>A (p.Pro518Thr)
c.1210C>A (p.Pro404Thr)
c.1354C>A (p.Pro452Thr)
c.-4294965618C>A
c.1228C>A (p.Pro410Thr)
c.1156C>A (p.Pro386Thr)
7g.140017717C=CA1747366688TBXAS1c.1411C= (p.Pro471=)
c.1364+1857C= (n.1364+1857C=)
c.*1200C= (n.*1200C=)
c.1549C= (p.Pro517=)
c.1414C= (p.Pro472=)
c.1367+1857C= (n.1367+1857C=)
c.1552C= (p.Pro518=)
c.1210C= (p.Pro404=)
c.1354C= (p.Pro452=)
c.-4294965618C=
c.1228C= (p.Pro410=)
c.1156C= (p.Pro386=)
7g.140017717C>GCA369519990TBXAS1c.1411C>G (p.Pro471Ala)
c.1364+1857C>G (n.1364+1857C>G)
c.*1200C>G (n.*1200C>G)
c.1549C>G (p.Pro517Ala)
c.1414C>G (p.Pro472Ala)
c.1367+1857C>G (n.1367+1857C>G)
c.1552C>G (p.Pro518Ala)
c.1210C>G (p.Pro404Ala)
c.1354C>G (p.Pro452Ala)
c.-4294965618C>G
c.1228C>G (p.Pro410Ala)
c.1156C>G (p.Pro386Ala)
7g.140017717C>TCA369519991TBXAS1c.1411C>T (p.Pro471Ser)
c.1364+1857C>T (n.1364+1857C>T)
c.*1200C>T (n.*1200C>T)
c.1549C>T (p.Pro517Ser)
c.1414C>T (p.Pro472Ser)
c.1367+1857C>T (n.1367+1857C>T)
c.1552C>T (p.Pro518Ser)
c.1210C>T (p.Pro404Ser)
c.1354C>T (p.Pro452Ser)
c.-4294965618C>T
c.1228C>T (p.Pro410Ser)
c.1156C>T (p.Pro386Ser)
 dbSNP gnomAD v4 COSMIC COSMIC
7g.140017718_140017722delCA1747366687TBXAS1c.1412_1416del (p.Pro471ArgfsTer16)
c.1364+1858_1364+1862del (n.1364+1858_1364+1862del)
c.*1201_*1205del (n.*1201_*1205del)
c.1550_1554del (p.Pro517ArgfsTer16)
c.1415_1419del (p.Pro472ArgfsTer16)
c.1367+1858_1367+1862del (n.1367+1858_1367+1862del)
c.1553_1557del (p.Pro518ArgfsTer16)
c.1211_1215del (p.Pro404ArgfsTer16)
c.1355_1359del (p.Pro452ArgfsTer16)
c.-4294965617_-4294965613del
c.1229_1233del (p.Pro410ArgfsTer16)
c.1157_1161del (p.Pro386ArgfsTer16)
 dbSNP gnomAD v4
7g.140017718C>ACA369519995TBXAS1c.1412C>A (p.Pro471His)
c.1364+1858C>A (n.1364+1858C>A)
c.*1201C>A (n.*1201C>A)
c.1550C>A (p.Pro517His)
c.1415C>A (p.Pro472His)
c.1367+1858C>A (n.1367+1858C>A)
c.1553C>A (p.Pro518His)
c.1211C>A (p.Pro404His)
c.1355C>A (p.Pro452His)
c.-4294965617C>A
c.1229C>A (p.Pro410His)
c.1157C>A (p.Pro386His)
7g.140017718C=CA1747366689TBXAS1c.1412C= (p.Pro471=)
c.1364+1858C= (n.1364+1858C=)
c.*1201C= (n.*1201C=)
c.1550C= (p.Pro517=)
c.1415C= (p.Pro472=)
c.1367+1858C= (n.1367+1858C=)
c.1553C= (p.Pro518=)
c.1211C= (p.Pro404=)
c.1355C= (p.Pro452=)
c.-4294965617C=
c.1229C= (p.Pro410=)
c.1157C= (p.Pro386=)
7g.140017718C>GCA369520006TBXAS1c.1412C>G (p.Pro471Arg)
c.1364+1858C>G (n.1364+1858C>G)
c.*1201C>G (n.*1201C>G)
c.1550C>G (p.Pro517Arg)
c.1415C>G (p.Pro472Arg)
c.1367+1858C>G (n.1367+1858C>G)
c.1553C>G (p.Pro518Arg)
c.1211C>G (p.Pro404Arg)
c.1355C>G (p.Pro452Arg)
c.-4294965617C>G
c.1229C>G (p.Pro410Arg)
c.1157C>G (p.Pro386Arg)
7g.140017718C>TCA369520010TBXAS1c.1412C>T (p.Pro471Leu)
c.1364+1858C>T (n.1364+1858C>T)
c.*1201C>T (n.*1201C>T)
c.1550C>T (p.Pro517Leu)
c.1415C>T (p.Pro472Leu)
c.1367+1858C>T (n.1367+1858C>T)
c.1553C>T (p.Pro518Leu)
c.1211C>T (p.Pro404Leu)
c.1355C>T (p.Pro452Leu)
c.-4294965617C>T
c.1229C>T (p.Pro410Leu)
c.1157C>T (p.Pro386Leu)
 dbSNP
7g.140017719C>ACA457968032TBXAS1c.1413C>A (p.Pro471=)
c.1364+1859C>A (n.1364+1859C>A)
c.*1202C>A (n.*1202C>A)
c.1551C>A (p.Pro517=)
c.1416C>A (p.Pro472=)
c.1367+1859C>A (n.1367+1859C>A)
c.1554C>A (p.Pro518=)
c.1212C>A (p.Pro404=)
c.1356C>A (p.Pro452=)
c.-4294965616C>A
c.1230C>A (p.Pro410=)
c.1158C>A (p.Pro386=)
7g.140017719C=CA1747366690TBXAS1c.1413C= (p.Pro471=)
c.1364+1859C= (n.1364+1859C=)
c.*1202C= (n.*1202C=)
c.1551C= (p.Pro517=)
c.1416C= (p.Pro472=)
c.1367+1859C= (n.1367+1859C=)
c.1554C= (p.Pro518=)
c.1212C= (p.Pro404=)
c.1356C= (p.Pro452=)
c.-4294965616C=
c.1230C= (p.Pro410=)
c.1158C= (p.Pro386=)
7g.140017719C>GCA4512038TBXAS1c.1413C>G (p.Pro471=)
c.1364+1859C>G (n.1364+1859C>G)
c.*1202C>G (n.*1202C>G)
c.1551C>G (p.Pro517=)
c.1416C>G (p.Pro472=)
c.1367+1859C>G (n.1367+1859C>G)
c.1554C>G (p.Pro518=)
c.1212C>G (p.Pro404=)
c.1356C>G (p.Pro452=)
c.-4294965616C>G
c.1230C>G (p.Pro410=)
c.1158C>G (p.Pro386=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.140017719C>TCA457968033TBXAS1c.1413C>T (p.Pro471=)
c.1364+1859C>T (n.1364+1859C>T)
c.*1202C>T (n.*1202C>T)
c.1551C>T (p.Pro517=)
c.1416C>T (p.Pro472=)
c.1367+1859C>T (n.1367+1859C>T)
c.1554C>T (p.Pro518=)
c.1212C>T (p.Pro404=)
c.1356C>T (p.Pro452=)
c.-4294965616C>T
c.1230C>T (p.Pro410=)
c.1158C>T (p.Pro386=)
 gnomAD v4
7g.140017720T>ACA369520024TBXAS1c.1414T>A (p.Phe472Ile)
c.1364+1860T>A (n.1364+1860T>A)
c.*1203T>A (n.*1203T>A)
c.1552T>A (p.Phe518Ile)
c.1417T>A (p.Phe473Ile)
c.1367+1860T>A (n.1367+1860T>A)
c.1555T>A (p.Phe519Ile)
c.1213T>A (p.Phe405Ile)
c.1357T>A (p.Phe453Ile)
c.-4294965615T>A
c.1231T>A (p.Phe411Ile)
c.1159T>A (p.Phe387Ile)
7g.140017720T>CCA369520044TBXAS1c.1414T>C (p.Phe472Leu)
c.1364+1860T>C (n.1364+1860T>C)
c.*1203T>C (n.*1203T>C)
c.1552T>C (p.Phe518Leu)
c.1417T>C (p.Phe473Leu)
c.1367+1860T>C (n.1367+1860T>C)
c.1555T>C (p.Phe519Leu)
c.1213T>C (p.Phe405Leu)
c.1357T>C (p.Phe453Leu)
c.-4294965615T>C
c.1231T>C (p.Phe411Leu)
c.1159T>C (p.Phe387Leu)
 dbSNP
7g.140017720T>GCA369520054TBXAS1c.1414T>G (p.Phe472Val)
c.1364+1860T>G (n.1364+1860T>G)
c.*1203T>G (n.*1203T>G)
c.1552T>G (p.Phe518Val)
c.1417T>G (p.Phe473Val)
c.1367+1860T>G (n.1367+1860T>G)
c.1555T>G (p.Phe519Val)
c.1213T>G (p.Phe405Val)
c.1357T>G (p.Phe453Val)
c.-4294965615T>G
c.1231T>G (p.Phe411Val)
c.1159T>G (p.Phe387Val)
7g.140017720T=CA1747366691TBXAS1c.1414T= (p.Phe472=)
c.1364+1860T= (n.1364+1860T=)
c.*1203T= (n.*1203T=)
c.1552T= (p.Phe518=)
c.1417T= (p.Phe473=)
c.1367+1860T= (n.1367+1860T=)
c.1555T= (p.Phe519=)
c.1213T= (p.Phe405=)
c.1357T= (p.Phe453=)
c.-4294965615T=
c.1231T= (p.Phe411=)
c.1159T= (p.Phe387=)
7g.140017721T>ACA369520064TBXAS1c.1415T>A (p.Phe472Tyr)
c.1364+1861T>A (n.1364+1861T>A)
c.*1204T>A (n.*1204T>A)
c.1553T>A (p.Phe518Tyr)
c.1418T>A (p.Phe473Tyr)
c.1367+1861T>A (n.1367+1861T>A)
c.1556T>A (p.Phe519Tyr)
c.1214T>A (p.Phe405Tyr)
c.1358T>A (p.Phe453Tyr)
c.-4294965614T>A
c.1232T>A (p.Phe411Tyr)
c.1160T>A (p.Phe387Tyr)
7g.140017721T>CCA369520066TBXAS1c.1415T>C (p.Phe472Ser)
c.1364+1861T>C (n.1364+1861T>C)
c.*1204T>C (n.*1204T>C)
c.1553T>C (p.Phe518Ser)
c.1418T>C (p.Phe473Ser)
c.1367+1861T>C (n.1367+1861T>C)
c.1556T>C (p.Phe519Ser)
c.1214T>C (p.Phe405Ser)
c.1358T>C (p.Phe453Ser)
c.-4294965614T>C
c.1232T>C (p.Phe411Ser)
c.1160T>C (p.Phe387Ser)
7g.140017721T>GCA369520061TBXAS1c.1415T>G (p.Phe472Cys)
c.1364+1861T>G (n.1364+1861T>G)
c.*1204T>G (n.*1204T>G)
c.1553T>G (p.Phe518Cys)
c.1418T>G (p.Phe473Cys)
c.1367+1861T>G (n.1367+1861T>G)
c.1556T>G (p.Phe519Cys)
c.1214T>G (p.Phe405Cys)
c.1358T>G (p.Phe453Cys)
c.-4294965614T>G
c.1232T>G (p.Phe411Cys)
c.1160T>G (p.Phe387Cys)
7g.140017722C>ACA369520076TBXAS1c.1416C>A (p.Phe472Leu)
c.1364+1862C>A (n.1364+1862C>A)
c.*1205C>A (n.*1205C>A)
c.1554C>A (p.Phe518Leu)
c.1419C>A (p.Phe473Leu)
c.1367+1862C>A (n.1367+1862C>A)
c.1557C>A (p.Phe519Leu)
c.1215C>A (p.Phe405Leu)
c.1359C>A (p.Phe453Leu)
c.-4294965613C>A
c.1233C>A (p.Phe411Leu)
c.1161C>A (p.Phe387Leu)
7g.140017722C=CA1747366693TBXAS1c.1416C= (p.Phe472=)
c.1364+1862C= (n.1364+1862C=)
c.*1205C= (n.*1205C=)
c.1554C= (p.Phe518=)
c.1419C= (p.Phe473=)
c.1367+1862C= (n.1367+1862C=)
c.1557C= (p.Phe519=)
c.1215C= (p.Phe405=)
c.1359C= (p.Phe453=)
c.-4294965613C=
c.1233C= (p.Phe411=)
c.1161C= (p.Phe387=)
7g.140017722C>GCA369520078TBXAS1c.1416C>G (p.Phe472Leu)
c.1364+1862C>G (n.1364+1862C>G)
c.*1205C>G (n.*1205C>G)
c.1554C>G (p.Phe518Leu)
c.1419C>G (p.Phe473Leu)
c.1367+1862C>G (n.1367+1862C>G)
c.1557C>G (p.Phe519Leu)
c.1215C>G (p.Phe405Leu)
c.1359C>G (p.Phe453Leu)
c.-4294965613C>G
c.1233C>G (p.Phe411Leu)
c.1161C>G (p.Phe387Leu)
7g.140017722C>TCA457968034TBXAS1c.1416C>T (p.Phe472=)
c.1364+1862C>T (n.1364+1862C>T)
c.*1205C>T (n.*1205C>T)
c.1554C>T (p.Phe518=)
c.1419C>T (p.Phe473=)
c.1367+1862C>T (n.1367+1862C>T)
c.1557C>T (p.Phe519=)
c.1215C>T (p.Phe405=)
c.1359C>T (p.Phe453=)
c.-4294965613C>T
c.1233C>T (p.Phe411=)
c.1161C>T (p.Phe387=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.140017722_140017723delinsCGCA1747366692TBXAS1c.1416_1417delinsCG (p.Phe472=)
c.1364+1862_1364+1863delinsCG (n.1364+1862_1364+1863delinsCG)
c.*1205_*1206delinsCG (n.*1205_*1206delinsCG)
c.1554_1555delinsCG (p.Phe518=)
c.1419_1420delinsCG (p.Phe473=)
c.1367+1862_1367+1863delinsCG (n.1367+1862_1367+1863delinsCG)
c.1557_1558delinsCG (p.Phe519=)
c.1215_1216delinsCG (p.Phe405=)
c.1359_1360delinsCG (p.Phe453=)
c.-4294965613_-4294965612delinsCG
c.1233_1234delinsCG (p.Phe411=)
c.1161_1162delinsCG (p.Phe387=)
7g.140017723G>ACA4512040TBXAS1c.1417G>A (p.Gly473Arg)
c.1364+1863G>A (n.1364+1863G>A)
c.*1206G>A (n.*1206G>A)
c.1555G>A (p.Gly519Arg)
c.1420G>A (p.Gly474Arg)
c.1367+1863G>A (n.1367+1863G>A)
c.1558G>A (p.Gly520Arg)
c.1216G>A (p.Gly406Arg)
c.1360G>A (p.Gly454Arg)
c.-4294965612G>A
c.1234G>A (p.Gly412Arg)
c.1162G>A (p.Gly388Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.140017723G>CCA4512041TBXAS1c.1417G>C (p.Gly473Arg)
c.1364+1863G>C (n.1364+1863G>C)
c.*1206G>C (n.*1206G>C)
c.1555G>C (p.Gly519Arg)
c.1420G>C (p.Gly474Arg)
c.1367+1863G>C (n.1367+1863G>C)
c.1558G>C (p.Gly520Arg)
c.1216G>C (p.Gly406Arg)
c.1360G>C (p.Gly454Arg)
c.-4294965612G>C
c.1234G>C (p.Gly412Arg)
c.1162G>C (p.Gly388Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.140017723G=CA1747366694TBXAS1c.1417G= (p.Gly473=)
c.1364+1863G= (n.1364+1863G=)
c.*1206G= (n.*1206G=)
c.1555G= (p.Gly519=)
c.1420G= (p.Gly474=)
c.1367+1863G= (n.1367+1863G=)
c.1558G= (p.Gly520=)
c.1216G= (p.Gly406=)
c.1360G= (p.Gly454=)
c.-4294965612G=
c.1234G= (p.Gly412=)
c.1162G= (p.Gly388=)
7g.140017723G>TCA4512039TBXAS1c.1417G>T (p.Gly473Trp)
c.1364+1863G>T (n.1364+1863G>T)
c.*1206G>T (n.*1206G>T)
c.1555G>T (p.Gly519Trp)
c.1420G>T (p.Gly474Trp)
c.1367+1863G>T (n.1367+1863G>T)
c.1558G>T (p.Gly520Trp)
c.1216G>T (p.Gly406Trp)
c.1360G>T (p.Gly454Trp)
c.-4294965612G>T
c.1234G>T (p.Gly412Trp)
c.1162G>T (p.Gly388Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140017726delCA200916TBXAS1c.1420del (p.Ala474ProfsTer11)
c.1364+1866del (n.1364+1866del)
c.*1209del (n.*1209del)
c.1558del (p.Ala520ProfsTer11)
c.1423del (p.Ala475ProfsTer11)
c.1367+1866del (n.1367+1866del)
c.1561del (p.Ala521ProfsTer11)
c.1219del (p.Ala407ProfsTer11)
c.1363del (p.Ala455ProfsTer11)
c.-4294965609del
c.1237del (p.Ala413ProfsTer11)
c.1165del (p.Ala389ProfsTer11)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140017724G>ACA369520097TBXAS1c.1418G>A (p.Gly473Glu)
c.1364+1864G>A (n.1364+1864G>A)
c.*1207G>A (n.*1207G>A)
c.1556G>A (p.Gly519Glu)
c.1421G>A (p.Gly474Glu)
c.1367+1864G>A (n.1367+1864G>A)
c.1559G>A (p.Gly520Glu)
c.1217G>A (p.Gly406Glu)
c.1361G>A (p.Gly454Glu)
c.-4294965611G>A
c.1235G>A (p.Gly412Glu)
c.1163G>A (p.Gly388Glu)
7g.140017724G>CCA369520112TBXAS1c.1418G>C (p.Gly473Ala)
c.1364+1864G>C (n.1364+1864G>C)
c.*1207G>C (n.*1207G>C)
c.1556G>C (p.Gly519Ala)
c.1421G>C (p.Gly474Ala)
c.1367+1864G>C (n.1367+1864G>C)
c.1559G>C (p.Gly520Ala)
c.1217G>C (p.Gly406Ala)
c.1361G>C (p.Gly454Ala)
c.-4294965611G>C
c.1235G>C (p.Gly412Ala)
c.1163G>C (p.Gly388Ala)
7g.140017724G=CA1747366695TBXAS1c.1418G= (p.Gly473=)
c.1364+1864G= (n.1364+1864G=)
c.*1207G= (n.*1207G=)
c.1556G= (p.Gly519=)
c.1421G= (p.Gly474=)
c.1367+1864G= (n.1367+1864G=)
c.1559G= (p.Gly520=)
c.1217G= (p.Gly406=)
c.1361G= (p.Gly454=)
c.-4294965611G=
c.1235G= (p.Gly412=)
c.1163G= (p.Gly388=)
7g.140017724G>TCA369520105TBXAS1c.1418G>T (p.Gly473Val)
c.1364+1864G>T (n.1364+1864G>T)
c.*1207G>T (n.*1207G>T)
c.1556G>T (p.Gly519Val)
c.1421G>T (p.Gly474Val)
c.1367+1864G>T (n.1367+1864G>T)
c.1559G>T (p.Gly520Val)
c.1217G>T (p.Gly406Val)
c.1361G>T (p.Gly454Val)
c.-4294965611G>T
c.1235G>T (p.Gly412Val)
c.1163G>T (p.Gly388Val)
 dbSNP gnomAD v2 gnomAD v4
7g.140017725G>ACA457968035TBXAS1c.1419G>A (p.Gly473=)
c.1364+1865G>A (n.1364+1865G>A)
c.*1208G>A (n.*1208G>A)
c.1557G>A (p.Gly519=)
c.1422G>A (p.Gly474=)
c.1367+1865G>A (n.1367+1865G>A)
c.1560G>A (p.Gly520=)
c.1218G>A (p.Gly406=)
c.1362G>A (p.Gly454=)
c.-4294965610G>A
c.1236G>A (p.Gly412=)
c.1164G>A (p.Gly388=)
7g.140017725G>CCA457968036TBXAS1c.1419G>C (p.Gly473=)
c.1364+1865G>C (n.1364+1865G>C)
c.*1208G>C (n.*1208G>C)
c.1557G>C (p.Gly519=)
c.1422G>C (p.Gly474=)
c.1367+1865G>C (n.1367+1865G>C)
c.1560G>C (p.Gly520=)
c.1218G>C (p.Gly406=)
c.1362G>C (p.Gly454=)
c.-4294965610G>C
c.1236G>C (p.Gly412=)
c.1164G>C (p.Gly388=)
7g.140017725G>TCA457968037TBXAS1c.1419G>T (p.Gly473=)
c.1364+1865G>T (n.1364+1865G>T)
c.*1208G>T (n.*1208G>T)
c.1557G>T (p.Gly519=)
c.1422G>T (p.Gly474=)
c.1367+1865G>T (n.1367+1865G>T)
c.1560G>T (p.Gly520=)
c.1218G>T (p.Gly406=)
c.1362G>T (p.Gly454=)
c.-4294965610G>T
c.1236G>T (p.Gly412=)
c.1164G>T (p.Gly388=)
7g.140017726G>ACA4512042TBXAS1c.1420G>A (p.Ala474Thr)
c.1364+1866G>A (n.1364+1866G>A)
c.*1209G>A (n.*1209G>A)
c.1558G>A (p.Ala520Thr)
c.1423G>A (p.Ala475Thr)
c.1367+1866G>A (n.1367+1866G>A)
c.1561G>A (p.Ala521Thr)
c.1219G>A (p.Ala407Thr)
c.1363G>A (p.Ala455Thr)
c.-4294965609G>A
c.1237G>A (p.Ala413Thr)
c.1165G>A (p.Ala389Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140017726G>CCA369520127TBXAS1c.1420G>C (p.Ala474Pro)
c.1364+1866G>C (n.1364+1866G>C)
c.*1209G>C (n.*1209G>C)
c.1558G>C (p.Ala520Pro)
c.1423G>C (p.Ala475Pro)
c.1367+1866G>C (n.1367+1866G>C)
c.1561G>C (p.Ala521Pro)
c.1219G>C (p.Ala407Pro)
c.1363G>C (p.Ala455Pro)
c.-4294965609G>C
c.1237G>C (p.Ala413Pro)
c.1165G>C (p.Ala389Pro)
7g.140017726G=CA1747366696TBXAS1c.1420G= (p.Ala474=)
c.1364+1866G= (n.1364+1866G=)
c.*1209G= (n.*1209G=)
c.1558G= (p.Ala520=)
c.1423G= (p.Ala475=)
c.1367+1866G= (n.1367+1866G=)
c.1561G= (p.Ala521=)
c.1219G= (p.Ala407=)
c.1363G= (p.Ala455=)
c.-4294965609G=
c.1237G= (p.Ala413=)
c.1165G= (p.Ala389=)
7g.140017726G>TCA369520131TBXAS1c.1420G>T (p.Ala474Ser)
c.1364+1866G>T (n.1364+1866G>T)
c.*1209G>T (n.*1209G>T)
c.1558G>T (p.Ala520Ser)
c.1423G>T (p.Ala475Ser)
c.1367+1866G>T (n.1367+1866G>T)
c.1561G>T (p.Ala521Ser)
c.1219G>T (p.Ala407Ser)
c.1363G>T (p.Ala455Ser)
c.-4294965609G>T
c.1237G>T (p.Ala413Ser)
c.1165G>T (p.Ala389Ser)
7g.140017726_140017727delinsGCCA1747366697TBXAS1c.1420_1421delinsGC (p.Ala474=)
c.1364+1866_1364+1867delinsGC (n.1364+1866_1364+1867delinsGC)
c.*1209_*1210delinsGC (n.*1209_*1210delinsGC)
c.1558_1559delinsGC (p.Ala520=)
c.1423_1424delinsGC (p.Ala475=)
c.1367+1866_1367+1867delinsGC (n.1367+1866_1367+1867delinsGC)
c.1561_1562delinsGC (p.Ala521=)
c.1219_1220delinsGC (p.Ala407=)
c.1363_1364delinsGC (p.Ala455=)
c.-4294965609_-4294965608delinsGC
c.1237_1238delinsGC (p.Ala413=)
c.1165_1166delinsGC (p.Ala389=)
7g.140017727C>ACA369520144TBXAS1c.1421C>A (p.Ala474Asp)
c.1364+1867C>A (n.1364+1867C>A)
c.*1210C>A (n.*1210C>A)
c.1559C>A (p.Ala520Asp)
c.1424C>A (p.Ala475Asp)
c.1367+1867C>A (n.1367+1867C>A)
c.1562C>A (p.Ala521Asp)
c.1220C>A (p.Ala407Asp)
c.1364C>A (p.Ala455Asp)
c.-4294965608C>A
c.1238C>A (p.Ala413Asp)
c.1166C>A (p.Ala389Asp)
7g.140017727C=CA1747366698TBXAS1c.1421C= (p.Ala474=)
c.1364+1867C= (n.1364+1867C=)
c.*1210C= (n.*1210C=)
c.1559C= (p.Ala520=)
c.1424C= (p.Ala475=)
c.1367+1867C= (n.1367+1867C=)
c.1562C= (p.Ala521=)
c.1220C= (p.Ala407=)
c.1364C= (p.Ala455=)
c.-4294965608C=
c.1238C= (p.Ala413=)
c.1166C= (p.Ala389=)
7g.140017727C>GCA369520143TBXAS1c.1421C>G (p.Ala474Gly)
c.1364+1867C>G (n.1364+1867C>G)
c.*1210C>G (n.*1210C>G)
c.1559C>G (p.Ala520Gly)
c.1424C>G (p.Ala475Gly)
c.1367+1867C>G (n.1367+1867C>G)
c.1562C>G (p.Ala521Gly)
c.1220C>G (p.Ala407Gly)
c.1364C>G (p.Ala455Gly)
c.-4294965608C>G
c.1238C>G (p.Ala413Gly)
c.1166C>G (p.Ala389Gly)
7g.140017727C>TCA369520142TBXAS1c.1421C>T (p.Ala474Val)
c.1364+1867C>T (n.1364+1867C>T)
c.*1210C>T (n.*1210C>T)
c.1559C>T (p.Ala520Val)
c.1424C>T (p.Ala475Val)
c.1367+1867C>T (n.1367+1867C>T)
c.1562C>T (p.Ala521Val)
c.1220C>T (p.Ala407Val)
c.1364C>T (p.Ala455Val)
c.-4294965608C>T
c.1238C>T (p.Ala413Val)
c.1166C>T (p.Ala389Val)
 dbSNP gnomAD v3 gnomAD v4
7g.140017728delCA578622952TBXAS1c.1422del (p.Gly475AlafsTer10)
c.1364+1868del (n.1364+1868del)
c.*1211del (n.*1211del)
c.1560del (p.Gly521AlafsTer10)
c.1425del (p.Gly476AlafsTer10)
c.1367+1868del (n.1367+1868del)
c.1563del (p.Gly522AlafsTer10)
c.1221del (p.Gly408AlafsTer10)
c.1365del (p.Gly456AlafsTer10)
c.-4294965607del
c.1239del (p.Gly414AlafsTer10)
c.1167del (p.Gly390AlafsTer10)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.140017728C>ACA457968038TBXAS1c.1422C>A (p.Ala474=)
c.1364+1868C>A (n.1364+1868C>A)
c.*1211C>A (n.*1211C>A)
c.1560C>A (p.Ala520=)
c.1425C>A (p.Ala475=)
c.1367+1868C>A (n.1367+1868C>A)
c.1563C>A (p.Ala521=)
c.1221C>A (p.Ala407=)
c.1365C>A (p.Ala455=)
c.-4294965607C>A
c.1239C>A (p.Ala413=)
c.1167C>A (p.Ala389=)
 dbSNP
7g.140017728C=CA1747366699TBXAS1c.1422C= (p.Ala474=)
c.1364+1868C= (n.1364+1868C=)
c.*1211C= (n.*1211C=)
c.1560C= (p.Ala520=)
c.1425C= (p.Ala475=)
c.1367+1868C= (n.1367+1868C=)
c.1563C= (p.Ala521=)
c.1221C= (p.Ala407=)
c.1365C= (p.Ala455=)
c.-4294965607C=
c.1239C= (p.Ala413=)
c.1167C= (p.Ala389=)
7g.140017728C>GCA4512044TBXAS1c.1422C>G (p.Ala474=)
c.1364+1868C>G (n.1364+1868C>G)
c.*1211C>G (n.*1211C>G)
c.1560C>G (p.Ala520=)
c.1425C>G (p.Ala475=)
c.1367+1868C>G (n.1367+1868C>G)
c.1563C>G (p.Ala521=)
c.1221C>G (p.Ala407=)
c.1365C>G (p.Ala455=)
c.-4294965607C>G
c.1239C>G (p.Ala413=)
c.1167C>G (p.Ala389=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.140017728C>TCA4512043TBXAS1c.1422C>T (p.Ala474=)
c.1364+1868C>T (n.1364+1868C>T)
c.*1211C>T (n.*1211C>T)
c.1560C>T (p.Ala520=)
c.1425C>T (p.Ala475=)
c.1367+1868C>T (n.1367+1868C>T)
c.1563C>T (p.Ala521=)
c.1221C>T (p.Ala407=)
c.1365C>T (p.Ala455=)
c.-4294965607C>T
c.1239C>T (p.Ala413=)
c.1167C>T (p.Ala389=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140017729G>ACA4512045TBXAS1c.1423G>A (p.Gly475Ser)
c.1364+1869G>A (n.1364+1869G>A)
c.*1212G>A (n.*1212G>A)
c.1561G>A (p.Gly521Ser)
c.1426G>A (p.Gly476Ser)
c.1367+1869G>A (n.1367+1869G>A)
c.1564G>A (p.Gly522Ser)
c.1222G>A (p.Gly408Ser)
c.1366G>A (p.Gly456Ser)
c.-4294965606G>A
c.1240G>A (p.Gly414Ser)
c.1168G>A (p.Gly390Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140017729G>CCA369520170TBXAS1c.1423G>C (p.Gly475Arg)
c.1364+1869G>C (n.1364+1869G>C)
c.*1212G>C (n.*1212G>C)
c.1561G>C (p.Gly521Arg)
c.1426G>C (p.Gly476Arg)
c.1367+1869G>C (n.1367+1869G>C)
c.1564G>C (p.Gly522Arg)
c.1222G>C (p.Gly408Arg)
c.1366G>C (p.Gly456Arg)
c.-4294965606G>C
c.1240G>C (p.Gly414Arg)
c.1168G>C (p.Gly390Arg)
 gnomAD v4
7g.140017729G=CA1747366700TBXAS1c.1423G= (p.Gly475=)
c.1364+1869G= (n.1364+1869G=)
c.*1212G= (n.*1212G=)
c.1561G= (p.Gly521=)
c.1426G= (p.Gly476=)
c.1367+1869G= (n.1367+1869G=)
c.1564G= (p.Gly522=)
c.1222G= (p.Gly408=)
c.1366G= (p.Gly456=)
c.-4294965606G=
c.1240G= (p.Gly414=)
c.1168G= (p.Gly390=)
7g.140017729G>TCA369520165TBXAS1c.1423G>T (p.Gly475Cys)
c.1364+1869G>T (n.1364+1869G>T)
c.*1212G>T (n.*1212G>T)
c.1561G>T (p.Gly521Cys)
c.1426G>T (p.Gly476Cys)
c.1367+1869G>T (n.1367+1869G>T)
c.1564G>T (p.Gly522Cys)
c.1222G>T (p.Gly408Cys)
c.1366G>T (p.Gly456Cys)
c.-4294965606G>T
c.1240G>T (p.Gly414Cys)
c.1168G>T (p.Gly390Cys)
7g.140017730G>ACA369520175TBXAS1c.1424G>A (p.Gly475Asp)
c.1364+1870G>A (n.1364+1870G>A)
c.*1213G>A (n.*1213G>A)
c.1562G>A (p.Gly521Asp)
c.1427G>A (p.Gly476Asp)
c.1367+1870G>A (n.1367+1870G>A)
c.1565G>A (p.Gly522Asp)
c.1223G>A (p.Gly408Asp)
c.1367G>A (p.Gly456Asp)
c.-4294965605G>A
c.1241G>A (p.Gly414Asp)
c.1169G>A (p.Gly390Asp)
7g.140017730G>CCA369520185TBXAS1c.1424G>C (p.Gly475Ala)
c.1364+1870G>C (n.1364+1870G>C)
c.*1213G>C (n.*1213G>C)
c.1562G>C (p.Gly521Ala)
c.1427G>C (p.Gly476Ala)
c.1367+1870G>C (n.1367+1870G>C)
c.1565G>C (p.Gly522Ala)
c.1223G>C (p.Gly408Ala)
c.1367G>C (p.Gly456Ala)
c.-4294965605G>C
c.1241G>C (p.Gly414Ala)
c.1169G>C (p.Gly390Ala)
7g.140017730G>TCA369520182TBXAS1c.1424G>T (p.Gly475Val)
c.1364+1870G>T (n.1364+1870G>T)
c.*1213G>T (n.*1213G>T)
c.1562G>T (p.Gly521Val)
c.1427G>T (p.Gly476Val)
c.1367+1870G>T (n.1367+1870G>T)
c.1565G>T (p.Gly522Val)
c.1223G>T (p.Gly408Val)
c.1367G>T (p.Gly456Val)
c.-4294965605G>T
c.1241G>T (p.Gly414Val)
c.1169G>T (p.Gly390Val)
7g.140017731C>ACA457968039TBXAS1c.1425C>A (p.Gly475=)
c.1364+1871C>A (n.1364+1871C>A)
c.*1214C>A (n.*1214C>A)
c.1563C>A (p.Gly521=)
c.1428C>A (p.Gly476=)
c.1367+1871C>A (n.1367+1871C>A)
c.1566C>A (p.Gly522=)
c.1224C>A (p.Gly408=)
c.1368C>A (p.Gly456=)
c.-4294965604C>A
c.1242C>A (p.Gly414=)
c.1170C>A (p.Gly390=)
 dbSNP gnomAD v4
7g.140017731C=CA1747366701TBXAS1c.1425C= (p.Gly475=)
c.1364+1871C= (n.1364+1871C=)
c.*1214C= (n.*1214C=)
c.1563C= (p.Gly521=)
c.1428C= (p.Gly476=)
c.1367+1871C= (n.1367+1871C=)
c.1566C= (p.Gly522=)
c.1224C= (p.Gly408=)
c.1368C= (p.Gly456=)
c.-4294965604C=
c.1242C= (p.Gly414=)
c.1170C= (p.Gly390=)
7g.140017731C>GCA457968040TBXAS1c.1425C>G (p.Gly475=)
c.1364+1871C>G (n.1364+1871C>G)
c.*1214C>G (n.*1214C>G)
c.1563C>G (p.Gly521=)
c.1428C>G (p.Gly476=)
c.1367+1871C>G (n.1367+1871C>G)
c.1566C>G (p.Gly522=)
c.1224C>G (p.Gly408=)
c.1368C>G (p.Gly456=)
c.-4294965604C>G
c.1242C>G (p.Gly414=)
c.1170C>G (p.Gly390=)
 gnomAD v4
7g.140017731C>TCA167962742TBXAS1c.1425C>T (p.Gly475=)
c.1364+1871C>T (n.1364+1871C>T)
c.*1214C>T (n.*1214C>T)
c.1563C>T (p.Gly521=)
c.1428C>T (p.Gly476=)
c.1367+1871C>T (n.1367+1871C>T)
c.1566C>T (p.Gly522=)
c.1224C>T (p.Gly408=)
c.1368C>T (p.Gly456=)
c.-4294965604C>T
c.1242C>T (p.Gly414=)
c.1170C>T (p.Gly390=)
 dbSNP
7g.140017732C>ACA369520194TBXAS1c.1426C>A (p.Pro476Thr)
c.1364+1872C>A (n.1364+1872C>A)
c.*1215C>A (n.*1215C>A)
c.1564C>A (p.Pro522Thr)
c.1429C>A (p.Pro477Thr)
c.1367+1872C>A (n.1367+1872C>A)
c.1567C>A (p.Pro523Thr)
c.1225C>A (p.Pro409Thr)
c.1369C>A (p.Pro457Thr)
c.-4294965603C>A
c.1243C>A (p.Pro415Thr)
c.1171C>A (p.Pro391Thr)
7g.140017732C>GCA369520205TBXAS1c.1426C>G (p.Pro476Ala)
c.1364+1872C>G (n.1364+1872C>G)
c.*1215C>G (n.*1215C>G)
c.1564C>G (p.Pro522Ala)
c.1429C>G (p.Pro477Ala)
c.1367+1872C>G (n.1367+1872C>G)
c.1567C>G (p.Pro523Ala)
c.1225C>G (p.Pro409Ala)
c.1369C>G (p.Pro457Ala)
c.-4294965603C>G
c.1243C>G (p.Pro415Ala)
c.1171C>G (p.Pro391Ala)
7g.140017732C>TCA369520198TBXAS1c.1426C>T (p.Pro476Ser)
c.1364+1872C>T (n.1364+1872C>T)
c.*1215C>T (n.*1215C>T)
c.1564C>T (p.Pro522Ser)
c.1429C>T (p.Pro477Ser)
c.1367+1872C>T (n.1367+1872C>T)
c.1567C>T (p.Pro523Ser)
c.1225C>T (p.Pro409Ser)
c.1369C>T (p.Pro457Ser)
c.-4294965603C>T
c.1243C>T (p.Pro415Ser)
c.1171C>T (p.Pro391Ser)
7g.140017733C>ACA369520210TBXAS1c.1427C>A (p.Pro476Gln)
c.1364+1873C>A (n.1364+1873C>A)
c.*1216C>A (n.*1216C>A)
c.1565C>A (p.Pro522Gln)
c.1430C>A (p.Pro477Gln)
c.1367+1873C>A (n.1367+1873C>A)
c.1568C>A (p.Pro523Gln)
c.1226C>A (p.Pro409Gln)
c.1370C>A (p.Pro457Gln)
c.-4294965602C>A
c.1244C>A (p.Pro415Gln)
c.1172C>A (p.Pro391Gln)
7g.140017733C=CA1747366702TBXAS1c.1427C= (p.Pro476=)
c.1364+1873C= (n.1364+1873C=)
c.*1216C= (n.*1216C=)
c.1565C= (p.Pro522=)
c.1430C= (p.Pro477=)
c.1367+1873C= (n.1367+1873C=)
c.1568C= (p.Pro523=)
c.1226C= (p.Pro409=)
c.1370C= (p.Pro457=)
c.-4294965602C=
c.1244C= (p.Pro415=)
c.1172C= (p.Pro391=)
7g.140017733C>GCA369520221TBXAS1c.1427C>G (p.Pro476Arg)
c.1364+1873C>G (n.1364+1873C>G)
c.*1216C>G (n.*1216C>G)
c.1565C>G (p.Pro522Arg)
c.1430C>G (p.Pro477Arg)
c.1367+1873C>G (n.1367+1873C>G)
c.1568C>G (p.Pro523Arg)
c.1226C>G (p.Pro409Arg)
c.1370C>G (p.Pro457Arg)
c.-4294965602C>G
c.1244C>G (p.Pro415Arg)
c.1172C>G (p.Pro391Arg)
7g.140017733C>TCA369520214TBXAS1c.1427C>T (p.Pro476Leu)
c.1364+1873C>T (n.1364+1873C>T)
c.*1216C>T (n.*1216C>T)
c.1565C>T (p.Pro522Leu)
c.1430C>T (p.Pro477Leu)
c.1367+1873C>T (n.1367+1873C>T)
c.1568C>T (p.Pro523Leu)
c.1226C>T (p.Pro409Leu)
c.1370C>T (p.Pro457Leu)
c.-4294965602C>T
c.1244C>T (p.Pro415Leu)
c.1172C>T (p.Pro391Leu)
 dbSNP gnomAD v2
7g.140017734A=CA1747366703TBXAS1c.1428A= (p.Pro476=)
c.1364+1874A= (n.1364+1874A=)
c.*1217A= (n.*1217A=)
c.1566A= (p.Pro522=)
c.1431A= (p.Pro477=)
c.1367+1874A= (n.1367+1874A=)
c.1569A= (p.Pro523=)
c.1227A= (p.Pro409=)
c.1371A= (p.Pro457=)
c.-4294965601A=
c.1245A= (p.Pro415=)
c.1173A= (p.Pro391=)
7g.140017734A>CCA457968041TBXAS1c.1428A>C (p.Pro476=)
c.1364+1874A>C (n.1364+1874A>C)
c.*1217A>C (n.*1217A>C)
c.1566A>C (p.Pro522=)
c.1431A>C (p.Pro477=)
c.1367+1874A>C (n.1367+1874A>C)
c.1569A>C (p.Pro523=)
c.1227A>C (p.Pro409=)
c.1371A>C (p.Pro457=)
c.-4294965601A>C
c.1245A>C (p.Pro415=)
c.1173A>C (p.Pro391=)
7g.140017734A>GCA457968042TBXAS1c.1428A>G (p.Pro476=)
c.1364+1874A>G (n.1364+1874A>G)
c.*1217A>G (n.*1217A>G)
c.1566A>G (p.Pro522=)
c.1431A>G (p.Pro477=)
c.1367+1874A>G (n.1367+1874A>G)
c.1569A>G (p.Pro523=)
c.1227A>G (p.Pro409=)
c.1371A>G (p.Pro457=)
c.-4294965601A>G
c.1245A>G (p.Pro415=)
c.1173A>G (p.Pro391=)
 dbSNP gnomAD v2
7g.140017734A>TCA457968043TBXAS1c.1428A>T (p.Pro476=)
c.1364+1874A>T (n.1364+1874A>T)
c.*1217A>T (n.*1217A>T)
c.1566A>T (p.Pro522=)
c.1431A>T (p.Pro477=)
c.1367+1874A>T (n.1367+1874A>T)
c.1569A>T (p.Pro523=)
c.1227A>T (p.Pro409=)
c.1371A>T (p.Pro457=)
c.-4294965601A>T
c.1245A>T (p.Pro415=)
c.1173A>T (p.Pro391=)
7g.140017735C>ACA457968044TBXAS1c.1429C>A (p.Arg477=)
c.1364+1875C>A (n.1364+1875C>A)
c.*1218C>A (n.*1218C>A)
c.1567C>A (p.Arg523=)
c.1432C>A (p.Arg478=)
c.1367+1875C>A (n.1367+1875C>A)
c.1570C>A (p.Arg524=)
c.1228C>A (p.Arg410=)
c.1372C>A (p.Arg458=)
c.-4294965600C>A
c.1246C>A (p.Arg416=)
c.1174C>A (p.Arg392=)
7g.140017735C=CA1747366704TBXAS1c.1429C= (p.Arg477=)
c.1364+1875C= (n.1364+1875C=)
c.*1218C= (n.*1218C=)
c.1567C= (p.Arg523=)
c.1432C= (p.Arg478=)
c.1367+1875C= (n.1367+1875C=)
c.1570C= (p.Arg524=)
c.1228C= (p.Arg410=)
c.1372C= (p.Arg458=)
c.-4294965600C=
c.1246C= (p.Arg416=)
c.1174C= (p.Arg392=)
7g.140017735C>GCA369520241TBXAS1c.1429C>G (p.Arg477Gly)
c.1364+1875C>G (n.1364+1875C>G)
c.*1218C>G (n.*1218C>G)
c.1567C>G (p.Arg523Gly)
c.1432C>G (p.Arg478Gly)
c.1367+1875C>G (n.1367+1875C>G)
c.1570C>G (p.Arg524Gly)
c.1228C>G (p.Arg410Gly)
c.1372C>G (p.Arg458Gly)
c.-4294965600C>G
c.1246C>G (p.Arg416Gly)
c.1174C>G (p.Arg392Gly)
7g.140017735C>TCA4512046TBXAS1c.1429C>T (p.Arg477Trp)
c.1364+1875C>T (n.1364+1875C>T)
c.*1218C>T (n.*1218C>T)
c.1567C>T (p.Arg523Trp)
c.1432C>T (p.Arg478Trp)
c.1367+1875C>T (n.1367+1875C>T)
c.1570C>T (p.Arg524Trp)
c.1228C>T (p.Arg410Trp)
c.1372C>T (p.Arg458Trp)
c.-4294965600C>T
c.1246C>T (p.Arg416Trp)
c.1174C>T (p.Arg392Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.140017736G>ACA4512047TBXAS1c.1430G>A (p.Arg477Gln)
c.1364+1876G>A (n.1364+1876G>A)
c.*1219G>A (n.*1219G>A)
c.1568G>A (p.Arg523Gln)
c.1433G>A (p.Arg478Gln)
c.1367+1876G>A (n.1367+1876G>A)
c.1571G>A (p.Arg524Gln)
c.1229G>A (p.Arg410Gln)
c.1373G>A (p.Arg458Gln)
c.-4294965599G>A
c.1247G>A (p.Arg416Gln)
c.1175G>A (p.Arg392Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140017736G>CCA369520279TBXAS1c.1430G>C (p.Arg477Pro)
c.1364+1876G>C (n.1364+1876G>C)
c.*1219G>C (n.*1219G>C)
c.1568G>C (p.Arg523Pro)
c.1433G>C (p.Arg478Pro)
c.1367+1876G>C (n.1367+1876G>C)
c.1571G>C (p.Arg524Pro)
c.1229G>C (p.Arg410Pro)
c.1373G>C (p.Arg458Pro)
c.-4294965599G>C
c.1247G>C (p.Arg416Pro)
c.1175G>C (p.Arg392Pro)
7g.140017736G=CA1747366705TBXAS1c.1430G= (p.Arg477=)
c.1364+1876G= (n.1364+1876G=)
c.*1219G= (n.*1219G=)
c.1568G= (p.Arg523=)
c.1433G= (p.Arg478=)
c.1367+1876G= (n.1367+1876G=)
c.1571G= (p.Arg524=)
c.1229G= (p.Arg410=)
c.1373G= (p.Arg458=)
c.-4294965599G=
c.1247G= (p.Arg416=)
c.1175G= (p.Arg392=)
7g.140017736G>TCA369520295TBXAS1c.1430G>T (p.Arg477Leu)
c.1364+1876G>T (n.1364+1876G>T)
c.*1219G>T (n.*1219G>T)
c.1568G>T (p.Arg523Leu)
c.1433G>T (p.Arg478Leu)
c.1367+1876G>T (n.1367+1876G>T)
c.1571G>T (p.Arg524Leu)
c.1229G>T (p.Arg410Leu)
c.1373G>T (p.Arg458Leu)
c.-4294965599G>T
c.1247G>T (p.Arg416Leu)
c.1175G>T (p.Arg392Leu)
7g.140017737G>ACA457968045TBXAS1c.1431G>A (p.Arg477=)
c.1364+1877G>A (n.1364+1877G>A)
c.*1220G>A (n.*1220G>A)
c.1569G>A (p.Arg523=)
c.1434G>A (p.Arg478=)
c.1367+1877G>A (n.1367+1877G>A)
c.1572G>A (p.Arg524=)
c.1230G>A (p.Arg410=)
c.1374G>A (p.Arg458=)
c.-4294965598G>A
c.1248G>A (p.Arg416=)
c.1176G>A (p.Arg392=)
 COSMIC COSMIC
7g.140017737G>CCA457968046TBXAS1c.1431G>C (p.Arg477=)
c.1364+1877G>C (n.1364+1877G>C)
c.*1220G>C (n.*1220G>C)
c.1569G>C (p.Arg523=)
c.1434G>C (p.Arg478=)
c.1367+1877G>C (n.1367+1877G>C)
c.1572G>C (p.Arg524=)
c.1230G>C (p.Arg410=)
c.1374G>C (p.Arg458=)
c.-4294965598G>C
c.1248G>C (p.Arg416=)
c.1176G>C (p.Arg392=)
7g.140017737G>TCA457968047TBXAS1c.1431G>T (p.Arg477=)
c.1364+1877G>T (n.1364+1877G>T)
c.*1220G>T (n.*1220G>T)
c.1569G>T (p.Arg523=)
c.1434G>T (p.Arg478=)
c.1367+1877G>T (n.1367+1877G>T)
c.1572G>T (p.Arg524=)
c.1230G>T (p.Arg410=)
c.1374G>T (p.Arg458=)
c.-4294965598G>T
c.1248G>T (p.Arg416=)
c.1176G>T (p.Arg392=)
7g.140017738A>CCA369520303TBXAS1c.1432A>C (p.Ser478Arg)
c.1364+1878A>C (n.1364+1878A>C)
c.*1221A>C (n.*1221A>C)
c.1570A>C (p.Ser524Arg)
c.1435A>C (p.Ser479Arg)
c.1367+1878A>C (n.1367+1878A>C)
c.1573A>C (p.Ser525Arg)
c.1231A>C (p.Ser411Arg)
c.1375A>C (p.Ser459Arg)
c.-4294965597A>C
c.1249A>C (p.Ser417Arg)
c.1177A>C (p.Ser393Arg)
7g.140017738A>GCA369520312TBXAS1c.1432A>G (p.Ser478Gly)
c.1364+1878A>G (n.1364+1878A>G)
c.*1221A>G (n.*1221A>G)
c.1570A>G (p.Ser524Gly)
c.1435A>G (p.Ser479Gly)
c.1367+1878A>G (n.1367+1878A>G)
c.1573A>G (p.Ser525Gly)
c.1231A>G (p.Ser411Gly)
c.1375A>G (p.Ser459Gly)
c.-4294965597A>G
c.1249A>G (p.Ser417Gly)
c.1177A>G (p.Ser393Gly)
 gnomAD v4
7g.140017738A>TCA369520315TBXAS1c.1432A>T (p.Ser478Cys)
c.1364+1878A>T (n.1364+1878A>T)
c.*1221A>T (n.*1221A>T)
c.1570A>T (p.Ser524Cys)
c.1435A>T (p.Ser479Cys)
c.1367+1878A>T (n.1367+1878A>T)
c.1573A>T (p.Ser525Cys)
c.1231A>T (p.Ser411Cys)
c.1375A>T (p.Ser459Cys)
c.-4294965597A>T
c.1249A>T (p.Ser417Cys)
c.1177A>T (p.Ser393Cys)
7g.140017739G>ACA369520320TBXAS1c.1433G>A (p.Ser478Asn)
c.1364+1879G>A (n.1364+1879G>A)
c.*1222G>A (n.*1222G>A)
c.1571G>A (p.Ser524Asn)
c.1436G>A (p.Ser479Asn)
c.1367+1879G>A (n.1367+1879G>A)
c.1574G>A (p.Ser525Asn)
c.1232G>A (p.Ser411Asn)
c.1376G>A (p.Ser459Asn)
c.-4294965596G>A
c.1250G>A (p.Ser417Asn)
c.1178G>A (p.Ser393Asn)
7g.140017739G>CCA369520323TBXAS1c.1433G>C (p.Ser478Thr)
c.1364+1879G>C (n.1364+1879G>C)
c.*1222G>C (n.*1222G>C)
c.1571G>C (p.Ser524Thr)
c.1436G>C (p.Ser479Thr)
c.1367+1879G>C (n.1367+1879G>C)
c.1574G>C (p.Ser525Thr)
c.1232G>C (p.Ser411Thr)
c.1376G>C (p.Ser459Thr)
c.-4294965596G>C
c.1250G>C (p.Ser417Thr)
c.1178G>C (p.Ser393Thr)
7g.140017739G>TCA369520326TBXAS1c.1433G>T (p.Ser478Ile)
c.1364+1879G>T (n.1364+1879G>T)
c.*1222G>T (n.*1222G>T)
c.1571G>T (p.Ser524Ile)
c.1436G>T (p.Ser479Ile)
c.1367+1879G>T (n.1367+1879G>T)
c.1574G>T (p.Ser525Ile)
c.1232G>T (p.Ser411Ile)
c.1376G>T (p.Ser459Ile)
c.-4294965596G>T
c.1250G>T (p.Ser417Ile)
c.1178G>T (p.Ser393Ile)
7g.140017740C>ACA4512048TBXAS1c.1434C>A (p.Ser478Arg)
c.1364+1880C>A (n.1364+1880C>A)
c.*1223C>A (n.*1223C>A)
c.1572C>A (p.Ser524Arg)
c.1437C>A (p.Ser479Arg)
c.1367+1880C>A (n.1367+1880C>A)
c.1575C>A (p.Ser525Arg)
c.1233C>A (p.Ser411Arg)
c.1377C>A (p.Ser459Arg)
c.-4294965595C>A
c.1251C>A (p.Ser417Arg)
c.1179C>A (p.Ser393Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.140017740C=CA1747366706TBXAS1c.1434C= (p.Ser478=)
c.1364+1880C= (n.1364+1880C=)
c.*1223C= (n.*1223C=)
c.1572C= (p.Ser524=)
c.1437C= (p.Ser479=)
c.1367+1880C= (n.1367+1880C=)
c.1575C= (p.Ser525=)
c.1233C= (p.Ser411=)
c.1377C= (p.Ser459=)
c.-4294965595C=
c.1251C= (p.Ser417=)
c.1179C= (p.Ser393=)
7g.140017740C>GCA369520331TBXAS1c.1434C>G (p.Ser478Arg)
c.1364+1880C>G (n.1364+1880C>G)
c.*1223C>G (n.*1223C>G)
c.1572C>G (p.Ser524Arg)
c.1437C>G (p.Ser479Arg)
c.1367+1880C>G (n.1367+1880C>G)
c.1575C>G (p.Ser525Arg)
c.1233C>G (p.Ser411Arg)
c.1377C>G (p.Ser459Arg)
c.-4294965595C>G
c.1251C>G (p.Ser417Arg)
c.1179C>G (p.Ser393Arg)
7g.140017740C>TCA457968048TBXAS1c.1434C>T (p.Ser478=)
c.1364+1880C>T (n.1364+1880C>T)
c.*1223C>T (n.*1223C>T)
c.1572C>T (p.Ser524=)
c.1437C>T (p.Ser479=)
c.1367+1880C>T (n.1367+1880C>T)
c.1575C>T (p.Ser525=)
c.1233C>T (p.Ser411=)
c.1377C>T (p.Ser459=)
c.-4294965595C>T
c.1251C>T (p.Ser417=)
c.1179C>T (p.Ser393=)
7g.140017741T>ACA369520335TBXAS1c.1435T>A (p.Cys479Ser)
c.1364+1881T>A (n.1364+1881T>A)
c.*1224T>A (n.*1224T>A)
c.1573T>A (p.Cys525Ser)
c.1438T>A (p.Cys480Ser)
c.1367+1881T>A (n.1367+1881T>A)
c.1576T>A (p.Cys526Ser)
c.1234T>A (p.Cys412Ser)
c.1378T>A (p.Cys460Ser)
c.-4294965594T>A
c.1252T>A (p.Cys418Ser)
c.1180T>A (p.Cys394Ser)
7g.140017741T>CCA4512049TBXAS1c.1435T>C (p.Cys479Arg)
c.1364+1881T>C (n.1364+1881T>C)
c.*1224T>C (n.*1224T>C)
c.1573T>C (p.Cys525Arg)
c.1438T>C (p.Cys480Arg)
c.1367+1881T>C (n.1367+1881T>C)
c.1576T>C (p.Cys526Arg)
c.1234T>C (p.Cys412Arg)
c.1378T>C (p.Cys460Arg)
c.-4294965594T>C
c.1252T>C (p.Cys418Arg)
c.1180T>C (p.Cys394Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140017741T>GCA369520340TBXAS1c.1435T>G (p.Cys479Gly)
c.1364+1881T>G (n.1364+1881T>G)
c.*1224T>G (n.*1224T>G)
c.1573T>G (p.Cys525Gly)
c.1438T>G (p.Cys480Gly)
c.1367+1881T>G (n.1367+1881T>G)
c.1576T>G (p.Cys526Gly)
c.1234T>G (p.Cys412Gly)
c.1378T>G (p.Cys460Gly)
c.-4294965594T>G
c.1252T>G (p.Cys418Gly)
c.1180T>G (p.Cys394Gly)
7g.140017741T=CA1747366707TBXAS1c.1435T= (p.Cys479=)
c.1364+1881T= (n.1364+1881T=)
c.*1224T= (n.*1224T=)
c.1573T= (p.Cys525=)
c.1438T= (p.Cys480=)
c.1367+1881T= (n.1367+1881T=)
c.1576T= (p.Cys526=)
c.1234T= (p.Cys412=)
c.1378T= (p.Cys460=)
c.-4294965594T=
c.1252T= (p.Cys418=)
c.1180T= (p.Cys394=)
7g.140017742G>ACA369520358TBXAS1c.1436G>A (p.Cys479Tyr)
c.1364+1882G>A (n.1364+1882G>A)
c.*1225G>A (n.*1225G>A)
c.1574G>A (p.Cys525Tyr)
c.1439G>A (p.Cys480Tyr)
c.1367+1882G>A (n.1367+1882G>A)
c.1577G>A (p.Cys526Tyr)
c.1235G>A (p.Cys412Tyr)
c.1379G>A (p.Cys460Tyr)
c.-4294965593G>A
c.1253G>A (p.Cys418Tyr)
c.1181G>A (p.Cys394Tyr)
 dbSNP gnomAD v3 gnomAD v4
7g.140017742G>CCA369520365TBXAS1c.1436G>C (p.Cys479Ser)
c.1364+1882G>C (n.1364+1882G>C)
c.*1225G>C (n.*1225G>C)
c.1574G>C (p.Cys525Ser)
c.1439G>C (p.Cys480Ser)
c.1367+1882G>C (n.1367+1882G>C)
c.1577G>C (p.Cys526Ser)
c.1235G>C (p.Cys412Ser)
c.1379G>C (p.Cys460Ser)
c.-4294965593G>C
c.1253G>C (p.Cys418Ser)
c.1181G>C (p.Cys394Ser)
 dbSNP
7g.140017742G=CA1747366708TBXAS1c.1436G= (p.Cys479=)
c.1364+1882G= (n.1364+1882G=)
c.*1225G= (n.*1225G=)
c.1574G= (p.Cys525=)
c.1439G= (p.Cys480=)
c.1367+1882G= (n.1367+1882G=)
c.1577G= (p.Cys526=)
c.1235G= (p.Cys412=)
c.1379G= (p.Cys460=)
c.-4294965593G=
c.1253G= (p.Cys418=)
c.1181G= (p.Cys394=)
7g.140017742G>TCA369520373TBXAS1c.1436G>T (p.Cys479Phe)
c.1364+1882G>T (n.1364+1882G>T)
c.*1225G>T (n.*1225G>T)
c.1574G>T (p.Cys525Phe)
c.1439G>T (p.Cys480Phe)
c.1367+1882G>T (n.1367+1882G>T)
c.1577G>T (p.Cys526Phe)
c.1235G>T (p.Cys412Phe)
c.1379G>T (p.Cys460Phe)
c.-4294965593G>T
c.1253G>T (p.Cys418Phe)
c.1181G>T (p.Cys394Phe)
7g.140017743C>ACA369520384TBXAS1c.1437C>A (p.Cys479Ter)
c.1364+1883C>A (n.1364+1883C>A)
c.*1226C>A (n.*1226C>A)
c.1575C>A (p.Cys525Ter)
c.1440C>A (p.Cys480Ter)
c.1367+1883C>A (n.1367+1883C>A)
c.1578C>A (p.Cys526Ter)
c.1236C>A (p.Cys412Ter)
c.1380C>A (p.Cys460Ter)
c.-4294965592C>A
c.1254C>A (p.Cys418Ter)
c.1182C>A (p.Cys394Ter)
7g.140017743C=CA1747366709TBXAS1c.1437C= (p.Cys479=)
c.1364+1883C= (n.1364+1883C=)
c.*1226C= (n.*1226C=)
c.1575C= (p.Cys525=)
c.1440C= (p.Cys480=)
c.1367+1883C= (n.1367+1883C=)
c.1578C= (p.Cys526=)
c.1236C= (p.Cys412=)
c.1380C= (p.Cys460=)
c.-4294965592C=
c.1254C= (p.Cys418=)
c.1182C= (p.Cys394=)
7g.140017743C>GCA369520385TBXAS1c.1437C>G (p.Cys479Trp)
c.1364+1883C>G (n.1364+1883C>G)
c.*1226C>G (n.*1226C>G)
c.1575C>G (p.Cys525Trp)
c.1440C>G (p.Cys480Trp)
c.1367+1883C>G (n.1367+1883C>G)
c.1578C>G (p.Cys526Trp)
c.1236C>G (p.Cys412Trp)
c.1380C>G (p.Cys460Trp)
c.-4294965592C>G
c.1254C>G (p.Cys418Trp)
c.1182C>G (p.Cys394Trp)
 gnomAD v4
7g.140017743C>TCA4512050TBXAS1c.1437C>T (p.Cys479=)
c.1364+1883C>T (n.1364+1883C>T)
c.*1226C>T (n.*1226C>T)
c.1575C>T (p.Cys525=)
c.1440C>T (p.Cys480=)
c.1367+1883C>T (n.1367+1883C>T)
c.1578C>T (p.Cys526=)
c.1236C>T (p.Cys412=)
c.1380C>T (p.Cys460=)
c.-4294965592C>T
c.1254C>T (p.Cys418=)
c.1182C>T (p.Cys394=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.140017744C>ACA369520390TBXAS1c.1438C>A (p.Leu480Ile)
c.1364+1884C>A (n.1364+1884C>A)
c.*1227C>A (n.*1227C>A)
c.1576C>A (p.Leu526Ile)
c.1441C>A (p.Leu481Ile)
c.1367+1884C>A (n.1367+1884C>A)
c.1579C>A (p.Leu527Ile)
c.1237C>A (p.Leu413Ile)
c.1381C>A (p.Leu461Ile)
c.-4294965591C>A
c.1255C>A (p.Leu419Ile)
c.1183C>A (p.Leu395Ile)
7g.140017744C>GCA369520392TBXAS1c.1438C>G (p.Leu480Val)
c.1364+1884C>G (n.1364+1884C>G)
c.*1227C>G (n.*1227C>G)
c.1576C>G (p.Leu526Val)
c.1441C>G (p.Leu481Val)
c.1367+1884C>G (n.1367+1884C>G)
c.1579C>G (p.Leu527Val)
c.1237C>G (p.Leu413Val)
c.1381C>G (p.Leu461Val)
c.-4294965591C>G
c.1255C>G (p.Leu419Val)
c.1183C>G (p.Leu395Val)
7g.140017744C>TCA369520399TBXAS1c.1438C>T (p.Leu480Phe)
c.1364+1884C>T (n.1364+1884C>T)
c.*1227C>T (n.*1227C>T)
c.1576C>T (p.Leu526Phe)
c.1441C>T (p.Leu481Phe)
c.1367+1884C>T (n.1367+1884C>T)
c.1579C>T (p.Leu527Phe)
c.1237C>T (p.Leu413Phe)
c.1381C>T (p.Leu461Phe)
c.-4294965591C>T
c.1255C>T (p.Leu419Phe)
c.1183C>T (p.Leu395Phe)
7g.140017745T>ACA369520407TBXAS1c.1439T>A (p.Leu480His)
c.1364+1885T>A (n.1364+1885T>A)
c.*1228T>A (n.*1228T>A)
c.1577T>A (p.Leu526His)
c.1442T>A (p.Leu481His)
c.1367+1885T>A (n.1367+1885T>A)
c.1580T>A (p.Leu527His)
c.1238T>A (p.Leu413His)
c.1382T>A (p.Leu461His)
c.-4294965590T>A
c.1256T>A (p.Leu419His)
c.1184T>A (p.Leu395His)
7g.140017745T>CCA369520404TBXAS1c.1439T>C (p.Leu480Pro)
c.1364+1885T>C (n.1364+1885T>C)
c.*1228T>C (n.*1228T>C)
c.1577T>C (p.Leu526Pro)
c.1442T>C (p.Leu481Pro)
c.1367+1885T>C (n.1367+1885T>C)
c.1580T>C (p.Leu527Pro)
c.1238T>C (p.Leu413Pro)
c.1382T>C (p.Leu461Pro)
c.-4294965590T>C
c.1256T>C (p.Leu419Pro)
c.1184T>C (p.Leu395Pro)
7g.140017745T>GCA369520400TBXAS1c.1439T>G (p.Leu480Arg)
c.1364+1885T>G (n.1364+1885T>G)
c.*1228T>G (n.*1228T>G)
c.1577T>G (p.Leu526Arg)
c.1442T>G (p.Leu481Arg)
c.1367+1885T>G (n.1367+1885T>G)
c.1580T>G (p.Leu527Arg)
c.1238T>G (p.Leu413Arg)
c.1382T>G (p.Leu461Arg)
c.-4294965590T>G
c.1256T>G (p.Leu419Arg)
c.1184T>G (p.Leu395Arg)
7g.140017746C>ACA457968049TBXAS1c.1440C>A (p.Leu480=)
c.1364+1886C>A (n.1364+1886C>A)
c.*1229C>A (n.*1229C>A)
c.1578C>A (p.Leu526=)
c.1443C>A (p.Leu481=)
c.1367+1886C>A (n.1367+1886C>A)
c.1581C>A (p.Leu527=)
c.1239C>A (p.Leu413=)
c.1383C>A (p.Leu461=)
c.-4294965589C>A
c.1257C>A (p.Leu419=)
c.1185C>A (p.Leu395=)
 gnomAD v4
7g.140017746C=CA1747366710TBXAS1c.1440C= (p.Leu480=)
c.1364+1886C= (n.1364+1886C=)
c.*1229C= (n.*1229C=)
c.1578C= (p.Leu526=)
c.1443C= (p.Leu481=)
c.1367+1886C= (n.1367+1886C=)
c.1581C= (p.Leu527=)
c.1239C= (p.Leu413=)
c.1383C= (p.Leu461=)
c.-4294965589C=
c.1257C= (p.Leu419=)
c.1185C= (p.Leu395=)
7g.140017746C>GCA457968050TBXAS1c.1440C>G (p.Leu480=)
c.1364+1886C>G (n.1364+1886C>G)
c.*1229C>G (n.*1229C>G)
c.1578C>G (p.Leu526=)
c.1443C>G (p.Leu481=)
c.1367+1886C>G (n.1367+1886C>G)
c.1581C>G (p.Leu527=)
c.1239C>G (p.Leu413=)
c.1383C>G (p.Leu461=)
c.-4294965589C>G
c.1257C>G (p.Leu419=)
c.1185C>G (p.Leu395=)
7g.140017746C>TCA457968052TBXAS1c.1440C>T (p.Leu480=)
c.1364+1886C>T (n.1364+1886C>T)
c.*1229C>T (n.*1229C>T)
c.1578C>T (p.Leu526=)
c.1443C>T (p.Leu481=)
c.1367+1886C>T (n.1367+1886C>T)
c.1581C>T (p.Leu527=)
c.1239C>T (p.Leu413=)
c.1383C>T (p.Leu461=)
c.-4294965589C>T
c.1257C>T (p.Leu419=)
c.1185C>T (p.Leu395=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.140017747G>ACA4512051TBXAS1c.1441G>A (p.Gly481Arg)
c.1364+1887G>A (n.1364+1887G>A)
c.*1230G>A (n.*1230G>A)
c.1579G>A (p.Gly527Arg)
c.1444G>A (p.Gly482Arg)
c.1367+1887G>A (n.1367+1887G>A)
c.1582G>A (p.Gly528Arg)
c.1240G>A (p.Gly414Arg)
c.1384G>A (p.Gly462Arg)
c.-4294965588G>A
c.1258G>A (p.Gly420Arg)
c.1186G>A (p.Gly396Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140017747G>CCA369520416TBXAS1c.1441G>C (p.Gly481Arg)
c.1364+1887G>C (n.1364+1887G>C)
c.*1230G>C (n.*1230G>C)
c.1579G>C (p.Gly527Arg)
c.1444G>C (p.Gly482Arg)
c.1367+1887G>C (n.1367+1887G>C)
c.1582G>C (p.Gly528Arg)
c.1240G>C (p.Gly414Arg)
c.1384G>C (p.Gly462Arg)
c.-4294965588G>C
c.1258G>C (p.Gly420Arg)
c.1186G>C (p.Gly396Arg)
 dbSNP gnomAD v4
7g.140017747G=CA1747366711TBXAS1c.1441G= (p.Gly481=)
c.1364+1887G= (n.1364+1887G=)
c.*1230G= (n.*1230G=)
c.1579G= (p.Gly527=)
c.1444G= (p.Gly482=)
c.1367+1887G= (n.1367+1887G=)
c.1582G= (p.Gly528=)
c.1240G= (p.Gly414=)
c.1384G= (p.Gly462=)
c.-4294965588G=
c.1258G= (p.Gly420=)
c.1186G= (p.Gly396=)
7g.140017747G>TCA121734TBXAS1c.1441G>T (p.Gly481Trp)
c.1364+1887G>T (n.1364+1887G>T)
c.*1230G>T (n.*1230G>T)
c.1579G>T (p.Gly527Trp)
c.1444G>T (p.Gly482Trp)
c.1367+1887G>T (n.1367+1887G>T)
c.1582G>T (p.Gly528Trp)
c.1240G>T (p.Gly414Trp)
c.1384G>T (p.Gly462Trp)
c.-4294965588G>T
c.1258G>T (p.Gly420Trp)
c.1186G>T (p.Gly396Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.140017748G>ACA369520417TBXAS1c.1442G>A (p.Gly481Glu)
c.1364+1888G>A (n.1364+1888G>A)
c.*1231G>A (n.*1231G>A)
c.1580G>A (p.Gly527Glu)
c.1445G>A (p.Gly482Glu)
c.1367+1888G>A (n.1367+1888G>A)
c.1583G>A (p.Gly528Glu)
c.1241G>A (p.Gly414Glu)
c.1385G>A (p.Gly462Glu)
c.-4294965587G>A
c.1259G>A (p.Gly420Glu)
c.1187G>A (p.Gly396Glu)
7g.140017748G>CCA369520421TBXAS1c.1442G>C (p.Gly481Ala)
c.1364+1888G>C (n.1364+1888G>C)
c.*1231G>C (n.*1231G>C)
c.1580G>C (p.Gly527Ala)
c.1445G>C (p.Gly482Ala)
c.1367+1888G>C (n.1367+1888G>C)
c.1583G>C (p.Gly528Ala)
c.1241G>C (p.Gly414Ala)
c.1385G>C (p.Gly462Ala)
c.-4294965587G>C
c.1259G>C (p.Gly420Ala)
c.1187G>C (p.Gly396Ala)
7g.140017748G>TCA369520424TBXAS1c.1442G>T (p.Gly481Val)
c.1364+1888G>T (n.1364+1888G>T)
c.*1231G>T (n.*1231G>T)
c.1580G>T (p.Gly527Val)
c.1445G>T (p.Gly482Val)
c.1367+1888G>T (n.1367+1888G>T)
c.1583G>T (p.Gly528Val)
c.1241G>T (p.Gly414Val)
c.1385G>T (p.Gly462Val)
c.-4294965587G>T
c.1259G>T (p.Gly420Val)
c.1187G>T (p.Gly396Val)
7g.140017749G>ACA457968053TBXAS1c.1443G>A (p.Gly481=)
c.1364+1889G>A (n.1364+1889G>A)
c.*1232G>A (n.*1232G>A)
c.1581G>A (p.Gly527=)
c.1446G>A (p.Gly482=)
c.1367+1889G>A (n.1367+1889G>A)
c.1584G>A (p.Gly528=)
c.1242G>A (p.Gly414=)
c.1386G>A (p.Gly462=)
c.-4294965586G>A
c.1260G>A (p.Gly420=)
c.1188G>A (p.Gly396=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.140017749G>CCA457968054TBXAS1c.1443G>C (p.Gly481=)
c.1364+1889G>C (n.1364+1889G>C)
c.*1232G>C (n.*1232G>C)
c.1581G>C (p.Gly527=)
c.1446G>C (p.Gly482=)
c.1367+1889G>C (n.1367+1889G>C)
c.1584G>C (p.Gly528=)
c.1242G>C (p.Gly414=)
c.1386G>C (p.Gly462=)
c.-4294965586G>C
c.1260G>C (p.Gly420=)
c.1188G>C (p.Gly396=)
 gnomAD v4
7g.140017749G=CA1747366712TBXAS1c.1443G= (p.Gly481=)
c.1364+1889G= (n.1364+1889G=)
c.*1232G= (n.*1232G=)
c.1581G= (p.Gly527=)
c.1446G= (p.Gly482=)
c.1367+1889G= (n.1367+1889G=)
c.1584G= (p.Gly528=)
c.1242G= (p.Gly414=)
c.1386G= (p.Gly462=)
c.-4294965586G=
c.1260G= (p.Gly420=)
c.1188G= (p.Gly396=)
7g.140017749G>TCA457968055TBXAS1c.1443G>T (p.Gly481=)
c.1364+1889G>T (n.1364+1889G>T)
c.*1232G>T (n.*1232G>T)
c.1581G>T (p.Gly527=)
c.1446G>T (p.Gly482=)
c.1367+1889G>T (n.1367+1889G>T)
c.1584G>T (p.Gly528=)
c.1242G>T (p.Gly414=)
c.1386G>T (p.Gly462=)
c.-4294965586G>T
c.1260G>T (p.Gly420=)
c.1188G>T (p.Gly396=)
 gnomAD v4
7g.140017750G>ACA4512052TBXAS1c.1444G>A (p.Val482Met)
c.1364+1890G>A (n.1364+1890G>A)
c.*1233G>A (n.*1233G>A)
c.1582G>A (p.Val528Met)
c.1447G>A (p.Val483Met)
c.1367+1890G>A (n.1367+1890G>A)
c.1585G>A (p.Val529Met)
c.1243G>A (p.Val415Met)
c.1387G>A (p.Val463Met)
c.-4294965585G>A
c.1261G>A (p.Val421Met)
c.1189G>A (p.Val397Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.140017750G>CCA369520425TBXAS1c.1444G>C (p.Val482Leu)
c.1364+1890G>C (n.1364+1890G>C)
c.*1233G>C (n.*1233G>C)
c.1582G>C (p.Val528Leu)
c.1447G>C (p.Val483Leu)
c.1367+1890G>C (n.1367+1890G>C)
c.1585G>C (p.Val529Leu)
c.1243G>C (p.Val415Leu)
c.1387G>C (p.Val463Leu)
c.-4294965585G>C
c.1261G>C (p.Val421Leu)
c.1189G>C (p.Val397Leu)
7g.140017750G=CA1747366713TBXAS1c.1444G= (p.Val482=)
c.1364+1890G= (n.1364+1890G=)
c.*1233G= (n.*1233G=)
c.1582G= (p.Val528=)
c.1447G= (p.Val483=)
c.1367+1890G= (n.1367+1890G=)
c.1585G= (p.Val529=)
c.1243G= (p.Val415=)
c.1387G= (p.Val463=)
c.-4294965585G=
c.1261G= (p.Val421=)
c.1189G= (p.Val397=)
7g.140017750G>TCA369520426TBXAS1c.1444G>T (p.Val482Leu)
c.1364+1890G>T (n.1364+1890G>T)
c.*1233G>T (n.*1233G>T)
c.1582G>T (p.Val528Leu)
c.1447G>T (p.Val483Leu)
c.1367+1890G>T (n.1367+1890G>T)
c.1585G>T (p.Val529Leu)
c.1243G>T (p.Val415Leu)
c.1387G>T (p.Val463Leu)
c.-4294965585G>T
c.1261G>T (p.Val421Leu)
c.1189G>T (p.Val397Leu)
 dbSNP gnomAD v4
7g.140017751T>ACA369520429TBXAS1c.1445T>A (p.Val482Glu)
c.1364+1891T>A (n.1364+1891T>A)
c.*1234T>A (n.*1234T>A)
c.1583T>A (p.Val528Glu)
c.1448T>A (p.Val483Glu)
c.1367+1891T>A (n.1367+1891T>A)
c.1586T>A (p.Val529Glu)
c.1244T>A (p.Val415Glu)
c.1388T>A (p.Val463Glu)
c.-4294965584T>A
c.1262T>A (p.Val421Glu)
c.1190T>A (p.Val397Glu)
7g.140017751T>CCA369520434TBXAS1c.1445T>C (p.Val482Ala)
c.1364+1891T>C (n.1364+1891T>C)
c.*1234T>C (n.*1234T>C)
c.1583T>C (p.Val528Ala)
c.1448T>C (p.Val483Ala)
c.1367+1891T>C (n.1367+1891T>C)
c.1586T>C (p.Val529Ala)
c.1244T>C (p.Val415Ala)
c.1388T>C (p.Val463Ala)
c.-4294965584T>C
c.1262T>C (p.Val421Ala)
c.1190T>C (p.Val397Ala)
7g.140017751T>GCA369520437TBXAS1c.1445T>G (p.Val482Gly)
c.1364+1891T>G (n.1364+1891T>G)
c.*1234T>G (n.*1234T>G)
c.1583T>G (p.Val528Gly)
c.1448T>G (p.Val483Gly)
c.1367+1891T>G (n.1367+1891T>G)
c.1586T>G (p.Val529Gly)
c.1244T>G (p.Val415Gly)
c.1388T>G (p.Val463Gly)
c.-4294965584T>G
c.1262T>G (p.Val421Gly)
c.1190T>G (p.Val397Gly)
 dbSNP
7g.140017751T=CA1747366714TBXAS1c.1445T= (p.Val482=)
c.1364+1891T= (n.1364+1891T=)
c.*1234T= (n.*1234T=)
c.1583T= (p.Val528=)
c.1448T= (p.Val483=)
c.1367+1891T= (n.1367+1891T=)
c.1586T= (p.Val529=)
c.1244T= (p.Val415=)
c.1388T= (p.Val463=)
c.-4294965584T=
c.1262T= (p.Val421=)
c.1190T= (p.Val397=)
7g.140017752G>ACA457968056TBXAS1c.1446G>A (p.Val482=)
c.1364+1892G>A (n.1364+1892G>A)
c.*1235G>A (n.*1235G>A)
c.1584G>A (p.Val528=)
c.1449G>A (p.Val483=)
c.1367+1892G>A (n.1367+1892G>A)
c.1587G>A (p.Val529=)
c.1245G>A (p.Val415=)
c.1389G>A (p.Val463=)
c.-4294965583G>A
c.1263G>A (p.Val421=)
c.1191G>A (p.Val397=)
7g.140017752G>CCA457968058TBXAS1c.1446G>C (p.Val482=)
c.1364+1892G>C (n.1364+1892G>C)
c.*1235G>C (n.*1235G>C)
c.1584G>C (p.Val528=)
c.1449G>C (p.Val483=)
c.1367+1892G>C (n.1367+1892G>C)
c.1587G>C (p.Val529=)
c.1245G>C (p.Val415=)
c.1389G>C (p.Val463=)
c.-4294965583G>C
c.1263G>C (p.Val421=)
c.1191G>C (p.Val397=)
7g.140017752G>TCA457968057TBXAS1c.1446G>T (p.Val482=)
c.1364+1892G>T (n.1364+1892G>T)
c.*1235G>T (n.*1235G>T)
c.1584G>T (p.Val528=)
c.1449G>T (p.Val483=)
c.1367+1892G>T (n.1367+1892G>T)
c.1587G>T (p.Val529=)
c.1245G>T (p.Val415=)
c.1389G>T (p.Val463=)
c.-4294965583G>T
c.1263G>T (p.Val421=)
c.1191G>T (p.Val397=)
7g.140017753C>ACA369520441TBXAS1c.1447C>A (p.Arg483Ser)
c.1364+1893C>A (n.1364+1893C>A)
c.*1236C>A (n.*1236C>A)
c.1585C>A (p.Arg529Ser)
c.1450C>A (p.Arg484Ser)
c.1367+1893C>A (n.1367+1893C>A)
c.1588C>A (p.Arg530Ser)
c.1246C>A (p.Arg416Ser)
c.1390C>A (p.Arg464Ser)
c.-4294965582C>A
c.1264C>A (p.Arg422Ser)
c.1192C>A (p.Arg398Ser)
7g.140017753C=CA1747366715TBXAS1c.1447C= (p.Arg483=)
c.1364+1893C= (n.1364+1893C=)
c.*1236C= (n.*1236C=)
c.1585C= (p.Arg529=)
c.1450C= (p.Arg484=)
c.1367+1893C= (n.1367+1893C=)
c.1588C= (p.Arg530=)
c.1246C= (p.Arg416=)
c.1390C= (p.Arg464=)
c.-4294965582C=
c.1264C= (p.Arg422=)
c.1192C= (p.Arg398=)
7g.140017753C>GCA369520438TBXAS1c.1447C>G (p.Arg483Gly)
c.1364+1893C>G (n.1364+1893C>G)
c.*1236C>G (n.*1236C>G)
c.1585C>G (p.Arg529Gly)
c.1450C>G (p.Arg484Gly)
c.1367+1893C>G (n.1367+1893C>G)
c.1588C>G (p.Arg530Gly)
c.1246C>G (p.Arg416Gly)
c.1390C>G (p.Arg464Gly)
c.-4294965582C>G
c.1264C>G (p.Arg422Gly)
c.1192C>G (p.Arg398Gly)
7g.140017753C>TCA167962791TBXAS1c.1447C>T (p.Arg483Cys)
c.1364+1893C>T (n.1364+1893C>T)
c.*1236C>T (n.*1236C>T)
c.1585C>T (p.Arg529Cys)
c.1450C>T (p.Arg484Cys)
c.1367+1893C>T (n.1367+1893C>T)
c.1588C>T (p.Arg530Cys)
c.1246C>T (p.Arg416Cys)
c.1390C>T (p.Arg464Cys)
c.-4294965582C>T
c.1264C>T (p.Arg422Cys)
c.1192C>T (p.Arg398Cys)
 dbSNP gnomAD v4
7g.140017754G>ACA4512053TBXAS1c.1448G>A (p.Arg483His)
c.1364+1894G>A (n.1364+1894G>A)
c.*1237G>A (n.*1237G>A)
c.1586G>A (p.Arg529His)
c.1451G>A (p.Arg484His)
c.1367+1894G>A (n.1367+1894G>A)
c.1589G>A (p.Arg530His)
c.1247G>A (p.Arg416His)
c.1391G>A (p.Arg464His)
c.-4294965581G>A
c.1265G>A (p.Arg422His)
c.1193G>A (p.Arg398His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140017754G>CCA369520453TBXAS1c.1448G>C (p.Arg483Pro)
c.1364+1894G>C (n.1364+1894G>C)
c.*1237G>C (n.*1237G>C)
c.1586G>C (p.Arg529Pro)
c.1451G>C (p.Arg484Pro)
c.1367+1894G>C (n.1367+1894G>C)
c.1589G>C (p.Arg530Pro)
c.1247G>C (p.Arg416Pro)
c.1391G>C (p.Arg464Pro)
c.-4294965581G>C
c.1265G>C (p.Arg422Pro)
c.1193G>C (p.Arg398Pro)
 gnomAD v4
7g.140017754G=CA1747366716TBXAS1c.1448G= (p.Arg483=)
c.1364+1894G= (n.1364+1894G=)
c.*1237G= (n.*1237G=)
c.1586G= (p.Arg529=)
c.1451G= (p.Arg484=)
c.1367+1894G= (n.1367+1894G=)
c.1589G= (p.Arg530=)
c.1247G= (p.Arg416=)
c.1391G= (p.Arg464=)
c.-4294965581G=
c.1265G= (p.Arg422=)
c.1193G= (p.Arg398=)
7g.140017754G>TCA369520460TBXAS1c.1448G>T (p.Arg483Leu)
c.1364+1894G>T (n.1364+1894G>T)
c.*1237G>T (n.*1237G>T)
c.1586G>T (p.Arg529Leu)
c.1451G>T (p.Arg484Leu)
c.1367+1894G>T (n.1367+1894G>T)
c.1589G>T (p.Arg530Leu)
c.1247G>T (p.Arg416Leu)
c.1391G>T (p.Arg464Leu)
c.-4294965581G>T
c.1265G>T (p.Arg422Leu)
c.1193G>T (p.Arg398Leu)
7g.140017755T>ACA457968059TBXAS1c.1449T>A (p.Arg483=)
c.1364+1895T>A (n.1364+1895T>A)
c.*1238T>A (n.*1238T>A)
c.1587T>A (p.Arg529=)
c.1452T>A (p.Arg484=)
c.1367+1895T>A (n.1367+1895T>A)
c.1590T>A (p.Arg530=)
c.1248T>A (p.Arg416=)
c.1392T>A (p.Arg464=)
c.-4294965580T>A
c.1266T>A (p.Arg422=)
c.1194T>A (p.Arg398=)
7g.140017755T>CCA457968060TBXAS1c.1449T>C (p.Arg483=)
c.1364+1895T>C (n.1364+1895T>C)
c.*1238T>C (n.*1238T>C)
c.1587T>C (p.Arg529=)
c.1452T>C (p.Arg484=)
c.1367+1895T>C (n.1367+1895T>C)
c.1590T>C (p.Arg530=)
c.1248T>C (p.Arg416=)
c.1392T>C (p.Arg464=)
c.-4294965580T>C
c.1266T>C (p.Arg422=)
c.1194T>C (p.Arg398=)
7g.140017755T>GCA457968061TBXAS1c.1449T>G (p.Arg483=)
c.1364+1895T>G (n.1364+1895T>G)
c.*1238T>G (n.*1238T>G)
c.1587T>G (p.Arg529=)
c.1452T>G (p.Arg484=)
c.1367+1895T>G (n.1367+1895T>G)
c.1590T>G (p.Arg530=)
c.1248T>G (p.Arg416=)
c.1392T>G (p.Arg464=)
c.-4294965580T>G
c.1266T>G (p.Arg422=)
c.1194T>G (p.Arg398=)
7g.140017756C>ACA369520464TBXAS1c.1450C>A (p.Leu484Ile)
c.1364+1896C>A (n.1364+1896C>A)
c.*1239C>A (n.*1239C>A)
c.1588C>A (p.Leu530Ile)
c.1453C>A (p.Leu485Ile)
c.1367+1896C>A (n.1367+1896C>A)
c.1591C>A (p.Leu531Ile)
c.1249C>A (p.Leu417Ile)
c.1393C>A (p.Leu465Ile)
c.-4294965579C>A
c.1267C>A (p.Leu423Ile)
c.1195C>A (p.Leu399Ile)
7g.140017756C>GCA369520468TBXAS1c.1450C>G (p.Leu484Val)
c.1364+1896C>G (n.1364+1896C>G)
c.*1239C>G (n.*1239C>G)
c.1588C>G (p.Leu530Val)
c.1453C>G (p.Leu485Val)
c.1367+1896C>G (n.1367+1896C>G)
c.1591C>G (p.Leu531Val)
c.1249C>G (p.Leu417Val)
c.1393C>G (p.Leu465Val)
c.-4294965579C>G
c.1267C>G (p.Leu423Val)
c.1195C>G (p.Leu399Val)
7g.140017756C>TCA457968062TBXAS1c.1450C>T (p.Leu484=)
c.1364+1896C>T (n.1364+1896C>T)
c.*1239C>T (n.*1239C>T)
c.1588C>T (p.Leu530=)
c.1453C>T (p.Leu485=)
c.1367+1896C>T (n.1367+1896C>T)
c.1591C>T (p.Leu531=)
c.1249C>T (p.Leu417=)
c.1393C>T (p.Leu465=)
c.-4294965579C>T
c.1267C>T (p.Leu423=)
c.1195C>T (p.Leu399=)
 gnomAD v4
7g.140017757T>ACA369520473TBXAS1c.1451T>A (p.Leu484Gln)
c.1364+1897T>A (n.1364+1897T>A)
c.*1240T>A (n.*1240T>A)
c.1589T>A (p.Leu530Gln)
c.1454T>A (p.Leu485Gln)
c.1367+1897T>A (n.1367+1897T>A)
c.1592T>A (p.Leu531Gln)
c.1250T>A (p.Leu417Gln)
c.1394T>A (p.Leu465Gln)
c.-4294965578T>A
c.1268T>A (p.Leu423Gln)
c.1196T>A (p.Leu399Gln)
7g.140017757T>CCA369520480TBXAS1c.1451T>C (p.Leu484Pro)
c.1364+1897T>C (n.1364+1897T>C)
c.*1240T>C (n.*1240T>C)
c.1589T>C (p.Leu530Pro)
c.1454T>C (p.Leu485Pro)
c.1367+1897T>C (n.1367+1897T>C)
c.1592T>C (p.Leu531Pro)
c.1250T>C (p.Leu417Pro)
c.1394T>C (p.Leu465Pro)
c.-4294965578T>C
c.1268T>C (p.Leu423Pro)
c.1196T>C (p.Leu399Pro)
7g.140017757T>GCA369520481TBXAS1c.1451T>G (p.Leu484Arg)
c.1364+1897T>G (n.1364+1897T>G)
c.*1240T>G (n.*1240T>G)
c.1589T>G (p.Leu530Arg)
c.1454T>G (p.Leu485Arg)
c.1367+1897T>G (n.1367+1897T>G)
c.1592T>G (p.Leu531Arg)
c.1250T>G (p.Leu417Arg)
c.1394T>G (p.Leu465Arg)
c.-4294965578T>G
c.1268T>G (p.Leu423Arg)
c.1196T>G (p.Leu399Arg)
7g.140017758A>CCA457968063TBXAS1c.1452A>C (p.Leu484=)
c.1364+1898A>C (n.1364+1898A>C)
c.*1241A>C (n.*1241A>C)
c.1590A>C (p.Leu530=)
c.1455A>C (p.Leu485=)
c.1367+1898A>C (n.1367+1898A>C)
c.1593A>C (p.Leu531=)
c.1251A>C (p.Leu417=)
c.1395A>C (p.Leu465=)
c.-4294965577A>C
c.1269A>C (p.Leu423=)
c.1197A>C (p.Leu399=)
7g.140017758A>GCA457968064TBXAS1c.1452A>G (p.Leu484=)
c.1364+1898A>G (n.1364+1898A>G)
c.*1241A>G (n.*1241A>G)
c.1590A>G (p.Leu530=)
c.1455A>G (p.Leu485=)
c.1367+1898A>G (n.1367+1898A>G)
c.1593A>G (p.Leu531=)
c.1251A>G (p.Leu417=)
c.1395A>G (p.Leu465=)
c.-4294965577A>G
c.1269A>G (p.Leu423=)
c.1197A>G (p.Leu399=)
7g.140017758A>TCA457968065TBXAS1c.1452A>T (p.Leu484=)
c.1364+1898A>T (n.1364+1898A>T)
c.*1241A>T (n.*1241A>T)
c.1590A>T (p.Leu530=)
c.1455A>T (p.Leu485=)
c.1367+1898A>T (n.1367+1898A>T)
c.1593A>T (p.Leu531=)
c.1251A>T (p.Leu417=)
c.1395A>T (p.Leu465=)
c.-4294965577A>T
c.1269A>T (p.Leu423=)
c.1197A>T (p.Leu399=)
7g.140017759G>ACA167962796TBXAS1c.1453G>A (p.Gly485Arg)
c.1364+1899G>A (n.1364+1899G>A)
c.*1242G>A (n.*1242G>A)
c.1591G>A (p.Gly531Arg)
c.1456G>A (p.Gly486Arg)
c.1367+1899G>A (n.1367+1899G>A)
c.1594G>A (p.Gly532Arg)
c.1252G>A (p.Gly418Arg)
c.1396G>A (p.Gly466Arg)
c.-4294965576G>A
c.1270G>A (p.Gly424Arg)
c.1198G>A (p.Gly400Arg)
 dbSNP
7g.140017759G>CCA369520488TBXAS1c.1453G>C (p.Gly485Arg)
c.1364+1899G>C (n.1364+1899G>C)
c.*1242G>C (n.*1242G>C)
c.1591G>C (p.Gly531Arg)
c.1456G>C (p.Gly486Arg)
c.1367+1899G>C (n.1367+1899G>C)
c.1594G>C (p.Gly532Arg)
c.1252G>C (p.Gly418Arg)
c.1396G>C (p.Gly466Arg)
c.-4294965576G>C
c.1270G>C (p.Gly424Arg)
c.1198G>C (p.Gly400Arg)
7g.140017759G=CA1747366717TBXAS1c.1453G= (p.Gly485=)
c.1364+1899G= (n.1364+1899G=)
c.*1242G= (n.*1242G=)
c.1591G= (p.Gly531=)
c.1456G= (p.Gly486=)
c.1367+1899G= (n.1367+1899G=)
c.1594G= (p.Gly532=)
c.1252G= (p.Gly418=)
c.1396G= (p.Gly466=)
c.-4294965576G=
c.1270G= (p.Gly424=)
c.1198G= (p.Gly400=)
7g.140017759G>TCA369520496TBXAS1c.1453G>T (p.Gly485Trp)
c.1364+1899G>T (n.1364+1899G>T)
c.*1242G>T (n.*1242G>T)
c.1591G>T (p.Gly531Trp)
c.1456G>T (p.Gly486Trp)
c.1367+1899G>T (n.1367+1899G>T)
c.1594G>T (p.Gly532Trp)
c.1252G>T (p.Gly418Trp)
c.1396G>T (p.Gly466Trp)
c.-4294965576G>T
c.1270G>T (p.Gly424Trp)
c.1198G>T (p.Gly400Trp)
7g.140017761delCA2685192354TBXAS1c.1455del (p.Leu486CysfsTer6)
c.1364+1901del (n.1364+1901del)
c.*1244del (n.*1244del)
c.1593del (p.Leu532CysfsTer6)
c.1458del (p.Leu487CysfsTer6)
c.1367+1901del (n.1367+1901del)
c.1596del (p.Leu533CysfsTer6)
c.1254del (p.Leu419CysfsTer6)
c.1398del (p.Leu467CysfsTer6)
c.-4294965574del
c.1272del (p.Leu425CysfsTer6)
c.1200del (p.Leu401CysfsTer6)
 gnomAD v4
7g.140017760G>ACA369520504TBXAS1c.1454G>A (p.Gly485Glu)
c.1364+1900G>A (n.1364+1900G>A)
c.*1243G>A (n.*1243G>A)
c.1592G>A (p.Gly531Glu)
c.1457G>A (p.Gly486Glu)
c.1367+1900G>A (n.1367+1900G>A)
c.1595G>A (p.Gly532Glu)
c.1253G>A (p.Gly418Glu)
c.1397G>A (p.Gly466Glu)
c.-4294965575G>A
c.1271G>A (p.Gly424Glu)
c.1199G>A (p.Gly400Glu)
7g.140017760G>CCA369520501TBXAS1c.1454G>C (p.Gly485Ala)
c.1364+1900G>C (n.1364+1900G>C)
c.*1243G>C (n.*1243G>C)
c.1592G>C (p.Gly531Ala)
c.1457G>C (p.Gly486Ala)
c.1367+1900G>C (n.1367+1900G>C)
c.1595G>C (p.Gly532Ala)
c.1253G>C (p.Gly418Ala)
c.1397G>C (p.Gly466Ala)
c.-4294965575G>C
c.1271G>C (p.Gly424Ala)
c.1199G>C (p.Gly400Ala)
7g.140017760G>TCA369520499TBXAS1c.1454G>T (p.Gly485Val)
c.1364+1900G>T (n.1364+1900G>T)
c.*1243G>T (n.*1243G>T)
c.1592G>T (p.Gly531Val)
c.1457G>T (p.Gly486Val)
c.1367+1900G>T (n.1367+1900G>T)
c.1595G>T (p.Gly532Val)
c.1253G>T (p.Gly418Val)
c.1397G>T (p.Gly466Val)
c.-4294965575G>T
c.1271G>T (p.Gly424Val)
c.1199G>T (p.Gly400Val)
7g.140017761G>ACA457968066TBXAS1c.1455G>A (p.Gly485=)
c.1364+1901G>A (n.1364+1901G>A)
c.*1244G>A (n.*1244G>A)
c.1593G>A (p.Gly531=)
c.1458G>A (p.Gly486=)
c.1367+1901G>A (n.1367+1901G>A)
c.1596G>A (p.Gly532=)
c.1254G>A (p.Gly418=)
c.1398G>A (p.Gly466=)
c.-4294965574G>A
c.1272G>A (p.Gly424=)
c.1200G>A (p.Gly400=)
7g.140017761G>CCA457968067TBXAS1c.1455G>C (p.Gly485=)
c.1364+1901G>C (n.1364+1901G>C)
c.*1244G>C (n.*1244G>C)
c.1593G>C (p.Gly531=)
c.1458G>C (p.Gly486=)
c.1367+1901G>C (n.1367+1901G>C)
c.1596G>C (p.Gly532=)
c.1254G>C (p.Gly418=)
c.1398G>C (p.Gly466=)
c.-4294965574G>C
c.1272G>C (p.Gly424=)
c.1200G>C (p.Gly400=)
7g.140017761G>TCA457968068TBXAS1c.1455G>T (p.Gly485=)
c.1364+1901G>T (n.1364+1901G>T)
c.*1244G>T (n.*1244G>T)
c.1593G>T (p.Gly531=)
c.1458G>T (p.Gly486=)
c.1367+1901G>T (n.1367+1901G>T)
c.1596G>T (p.Gly532=)
c.1254G>T (p.Gly418=)
c.1398G>T (p.Gly466=)
c.-4294965574G>T
c.1272G>T (p.Gly424=)
c.1200G>T (p.Gly400=)
7g.140017762C>ACA369520508TBXAS1c.1456C>A (p.Leu486Met)
c.1364+1902C>A (n.1364+1902C>A)
c.*1245C>A (n.*1245C>A)
c.1594C>A (p.Leu532Met)
c.1459C>A (p.Leu487Met)
c.1367+1902C>A (n.1367+1902C>A)
c.1597C>A (p.Leu533Met)
c.1255C>A (p.Leu419Met)
c.1399C>A (p.Leu467Met)
c.-4294965573C>A
c.1273C>A (p.Leu425Met)
c.1201C>A (p.Leu401Met)
 dbSNP gnomAD v2 gnomAD v4
7g.140017762C=CA1747366718TBXAS1c.1456C= (p.Leu486=)
c.1364+1902C= (n.1364+1902C=)
c.*1245C= (n.*1245C=)
c.1594C= (p.Leu532=)
c.1459C= (p.Leu487=)
c.1367+1902C= (n.1367+1902C=)
c.1597C= (p.Leu533=)
c.1255C= (p.Leu419=)
c.1399C= (p.Leu467=)
c.-4294965573C=
c.1273C= (p.Leu425=)
c.1201C= (p.Leu401=)
7g.140017762C>GCA369520509TBXAS1c.1456C>G (p.Leu486Val)
c.1364+1902C>G (n.1364+1902C>G)
c.*1245C>G (n.*1245C>G)
c.1594C>G (p.Leu532Val)
c.1459C>G (p.Leu487Val)
c.1367+1902C>G (n.1367+1902C>G)
c.1597C>G (p.Leu533Val)
c.1255C>G (p.Leu419Val)
c.1399C>G (p.Leu467Val)
c.-4294965573C>G
c.1273C>G (p.Leu425Val)
c.1201C>G (p.Leu401Val)
7g.140017762C>TCA4512054TBXAS1c.1456C>T (p.Leu486=)
c.1364+1902C>T (n.1364+1902C>T)
c.*1245C>T (n.*1245C>T)
c.1594C>T (p.Leu532=)
c.1459C>T (p.Leu487=)
c.1367+1902C>T (n.1367+1902C>T)
c.1597C>T (p.Leu533=)
c.1255C>T (p.Leu419=)
c.1399C>T (p.Leu467=)
c.-4294965573C>T
c.1273C>T (p.Leu425=)
c.1201C>T (p.Leu401=)
 dbSNP ExAC gnomAD v3 gnomAD v4
7g.140017763T>ACA369520511TBXAS1c.1457T>A (p.Leu486Gln)
c.1364+1903T>A (n.1364+1903T>A)
c.*1246T>A (n.*1246T>A)
c.1595T>A (p.Leu532Gln)
c.1460T>A (p.Leu487Gln)
c.1367+1903T>A (n.1367+1903T>A)
c.1598T>A (p.Leu533Gln)
c.1256T>A (p.Leu419Gln)
c.1400T>A (p.Leu467Gln)
c.-4294965572T>A
c.1274T>A (p.Leu425Gln)
c.1202T>A (p.Leu401Gln)
7g.140017763T>CCA369520513TBXAS1c.1457T>C (p.Leu486Pro)
c.1364+1903T>C (n.1364+1903T>C)
c.*1246T>C (n.*1246T>C)
c.1595T>C (p.Leu532Pro)
c.1460T>C (p.Leu487Pro)
c.1367+1903T>C (n.1367+1903T>C)
c.1598T>C (p.Leu533Pro)
c.1256T>C (p.Leu419Pro)
c.1400T>C (p.Leu467Pro)
c.-4294965572T>C
c.1274T>C (p.Leu425Pro)
c.1202T>C (p.Leu401Pro)
7g.140017763T>GCA369520514TBXAS1c.1457T>G (p.Leu486Arg)
c.1364+1903T>G (n.1364+1903T>G)
c.*1246T>G (n.*1246T>G)
c.1595T>G (p.Leu532Arg)
c.1460T>G (p.Leu487Arg)
c.1367+1903T>G (n.1367+1903T>G)
c.1598T>G (p.Leu533Arg)
c.1256T>G (p.Leu419Arg)
c.1400T>G (p.Leu467Arg)
c.-4294965572T>G
c.1274T>G (p.Leu425Arg)
c.1202T>G (p.Leu401Arg)
7g.140017764G>ACA457968070TBXAS1c.1458G>A (p.Leu486=)
c.1364+1904G>A (n.1364+1904G>A)
c.*1247G>A (n.*1247G>A)
c.1596G>A (p.Leu532=)
c.1461G>A (p.Leu487=)
c.1367+1904G>A (n.1367+1904G>A)
c.1599G>A (p.Leu533=)
c.1257G>A (p.Leu419=)
c.1401G>A (p.Leu467=)
c.-4294965571G>A
c.1275G>A (p.Leu425=)
c.1203G>A (p.Leu401=)
7g.140017764G>CCA457968071TBXAS1c.1458G>C (p.Leu486=)
c.1364+1904G>C (n.1364+1904G>C)
c.*1247G>C (n.*1247G>C)
c.1596G>C (p.Leu532=)
c.1461G>C (p.Leu487=)
c.1367+1904G>C (n.1367+1904G>C)
c.1599G>C (p.Leu533=)
c.1257G>C (p.Leu419=)
c.1401G>C (p.Leu467=)
c.-4294965571G>C
c.1275G>C (p.Leu425=)
c.1203G>C (p.Leu401=)
7g.140017764G>TCA457968072TBXAS1c.1458G>T (p.Leu486=)
c.1364+1904G>T (n.1364+1904G>T)
c.*1247G>T (n.*1247G>T)
c.1596G>T (p.Leu532=)
c.1461G>T (p.Leu487=)
c.1367+1904G>T (n.1367+1904G>T)
c.1599G>T (p.Leu533=)
c.1257G>T (p.Leu419=)
c.1401G>T (p.Leu467=)
c.-4294965571G>T
c.1275G>T (p.Leu425=)
c.1203G>T (p.Leu401=)
7g.140017765C>ACA369520524TBXAS1c.1459C>A (p.Leu487Ile)
c.1364+1905C>A (n.1364+1905C>A)
c.*1248C>A (n.*1248C>A)
c.1597C>A (p.Leu533Ile)
c.1462C>A (p.Leu488Ile)
c.1367+1905C>A (n.1367+1905C>A)
c.1600C>A (p.Leu534Ile)
c.1258C>A (p.Leu420Ile)
c.1402C>A (p.Leu468Ile)
c.-4294965570C>A
c.1276C>A (p.Leu426Ile)
c.1204C>A (p.Leu402Ile)
 COSMIC COSMIC
7g.140017765C=CA1747366719TBXAS1c.1459C= (p.Leu487=)
c.1364+1905C= (n.1364+1905C=)
c.*1248C= (n.*1248C=)
c.1597C= (p.Leu533=)
c.1462C= (p.Leu488=)
c.1367+1905C= (n.1367+1905C=)
c.1600C= (p.Leu534=)
c.1258C= (p.Leu420=)
c.1402C= (p.Leu468=)
c.-4294965570C=
c.1276C= (p.Leu426=)
c.1204C= (p.Leu402=)
7g.140017765C>GCA369520520TBXAS1c.1459C>G (p.Leu487Val)
c.1364+1905C>G (n.1364+1905C>G)
c.*1248C>G (n.*1248C>G)
c.1597C>G (p.Leu533Val)
c.1462C>G (p.Leu488Val)
c.1367+1905C>G (n.1367+1905C>G)
c.1600C>G (p.Leu534Val)
c.1258C>G (p.Leu420Val)
c.1402C>G (p.Leu468Val)
c.-4294965570C>G
c.1276C>G (p.Leu426Val)
c.1204C>G (p.Leu402Val)
7g.140017765C>TCA369520518TBXAS1c.1459C>T (p.Leu487Phe)
c.1364+1905C>T (n.1364+1905C>T)
c.*1248C>T (n.*1248C>T)
c.1597C>T (p.Leu533Phe)
c.1462C>T (p.Leu488Phe)
c.1367+1905C>T (n.1367+1905C>T)
c.1600C>T (p.Leu534Phe)
c.1258C>T (p.Leu420Phe)
c.1402C>T (p.Leu468Phe)
c.-4294965570C>T
c.1276C>T (p.Leu426Phe)
c.1204C>T (p.Leu402Phe)
 dbSNP gnomAD v2 gnomAD v4
7g.140017766T>ACA369520528TBXAS1c.1460T>A (p.Leu487His)
c.1364+1906T>A (n.1364+1906T>A)
c.*1249T>A (n.*1249T>A)
c.1598T>A (p.Leu533His)
c.1463T>A (p.Leu488His)
c.1367+1906T>A (n.1367+1906T>A)
c.1601T>A (p.Leu534His)
c.1259T>A (p.Leu420His)
c.1403T>A (p.Leu468His)
c.-4294965569T>A
c.1277T>A (p.Leu426His)
c.1205T>A (p.Leu402His)
7g.140017766T>CCA121723TBXAS1c.1460T>C (p.Leu487Pro)
c.1364+1906T>C (n.1364+1906T>C)
c.*1249T>C (n.*1249T>C)
c.1598T>C (p.Leu533Pro)
c.1463T>C (p.Leu488Pro)
c.1367+1906T>C (n.1367+1906T>C)
c.1601T>C (p.Leu534Pro)
c.1259T>C (p.Leu420Pro)
c.1403T>C (p.Leu468Pro)
c.-4294965569T>C
c.1277T>C (p.Leu426Pro)
c.1205T>C (p.Leu402Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.140017766T>GCA369520534TBXAS1c.1460T>G (p.Leu487Arg)
c.1364+1906T>G (n.1364+1906T>G)
c.*1249T>G (n.*1249T>G)
c.1598T>G (p.Leu533Arg)
c.1463T>G (p.Leu488Arg)
c.1367+1906T>G (n.1367+1906T>G)
c.1601T>G (p.Leu534Arg)
c.1259T>G (p.Leu420Arg)
c.1403T>G (p.Leu468Arg)
c.-4294965569T>G
c.1277T>G (p.Leu426Arg)
c.1205T>G (p.Leu402Arg)
7g.140017766T=CA1747366720TBXAS1c.1460T= (p.Leu487=)
c.1364+1906T= (n.1364+1906T=)
c.*1249T= (n.*1249T=)
c.1598T= (p.Leu533=)
c.1463T= (p.Leu488=)
c.1367+1906T= (n.1367+1906T=)
c.1601T= (p.Leu534=)
c.1259T= (p.Leu420=)
c.1403T= (p.Leu468=)
c.-4294965569T=
c.1277T= (p.Leu426=)
c.1205T= (p.Leu402=)
7g.140017767T>ACA457968073TBXAS1c.1461T>A (p.Leu487=)
c.1364+1907T>A (n.1364+1907T>A)
c.*1250T>A (n.*1250T>A)
c.1599T>A (p.Leu533=)
c.1464T>A (p.Leu488=)
c.1367+1907T>A (n.1367+1907T>A)
c.1602T>A (p.Leu534=)
c.1260T>A (p.Leu420=)
c.1404T>A (p.Leu468=)
c.-4294965568T>A
c.1278T>A (p.Leu426=)
c.1206T>A (p.Leu402=)
7g.140017767T>CCA457968074TBXAS1c.1461T>C (p.Leu487=)
c.1364+1907T>C (n.1364+1907T>C)
c.*1250T>C (n.*1250T>C)
c.1599T>C (p.Leu533=)
c.1464T>C (p.Leu488=)
c.1367+1907T>C (n.1367+1907T>C)
c.1602T>C (p.Leu534=)
c.1260T>C (p.Leu420=)
c.1404T>C (p.Leu468=)
c.-4294965568T>C
c.1278T>C (p.Leu426=)
c.1206T>C (p.Leu402=)
 gnomAD v4
7g.140017767T>GCA457968075TBXAS1c.1461T>G (p.Leu487=)
c.1364+1907T>G (n.1364+1907T>G)
c.*1250T>G (n.*1250T>G)
c.1599T>G (p.Leu533=)
c.1464T>G (p.Leu488=)
c.1367+1907T>G (n.1367+1907T>G)
c.1602T>G (p.Leu534=)
c.1260T>G (p.Leu420=)
c.1404T>G (p.Leu468=)
c.-4294965568T>G
c.1278T>G (p.Leu426=)
c.1206T>G (p.Leu402=)
 gnomAD v4
7g.140017768G>ACA369520538TBXAS1c.1462G>A (p.Glu488Lys)
c.1364+1908G>A (n.1364+1908G>A)
c.*1251G>A (n.*1251G>A)
c.1600G>A (p.Glu534Lys)
c.1465G>A (p.Glu489Lys)
c.1367+1908G>A (n.1367+1908G>A)
c.1603G>A (p.Glu535Lys)
c.1261G>A (p.Glu421Lys)
c.1405G>A (p.Glu469Lys)
c.-4294965567G>A
c.1279G>A (p.Glu427Lys)
c.1207G>A (p.Glu403Lys)
 gnomAD v4
7g.140017768G>CCA369520547TBXAS1c.1462G>C (p.Glu488Gln)
c.1364+1908G>C (n.1364+1908G>C)
c.*1251G>C (n.*1251G>C)
c.1600G>C (p.Glu534Gln)
c.1465G>C (p.Glu489Gln)
c.1367+1908G>C (n.1367+1908G>C)
c.1603G>C (p.Glu535Gln)
c.1261G>C (p.Glu421Gln)
c.1405G>C (p.Glu469Gln)
c.-4294965567G>C
c.1279G>C (p.Glu427Gln)
c.1207G>C (p.Glu403Gln)
7g.140017768G=CA1747366721TBXAS1c.1462G= (p.Glu488=)
c.1364+1908G= (n.1364+1908G=)
c.*1251G= (n.*1251G=)
c.1600G= (p.Glu534=)
c.1465G= (p.Glu489=)
c.1367+1908G= (n.1367+1908G=)
c.1603G= (p.Glu535=)
c.1261G= (p.Glu421=)
c.1405G= (p.Glu469=)
c.-4294965567G=
c.1279G= (p.Glu427=)
c.1207G= (p.Glu403=)
7g.140017768G>TCA369520549TBXAS1c.1462G>T (p.Glu488Ter)
c.1364+1908G>T (n.1364+1908G>T)
c.*1251G>T (n.*1251G>T)
c.1600G>T (p.Glu534Ter)
c.1465G>T (p.Glu489Ter)
c.1367+1908G>T (n.1367+1908G>T)
c.1603G>T (p.Glu535Ter)
c.1261G>T (p.Glu421Ter)
c.1405G>T (p.Glu469Ter)
c.-4294965567G>T
c.1279G>T (p.Glu427Ter)
c.1207G>T (p.Glu403Ter)
 dbSNP gnomAD v4
7g.140017769A>CCA369520553TBXAS1c.1463A>C (p.Glu488Ala)
c.1364+1909A>C (n.1364+1909A>C)
c.*1252A>C (n.*1252A>C)
c.1601A>C (p.Glu534Ala)
c.1466A>C (p.Glu489Ala)
c.1367+1909A>C (n.1367+1909A>C)
c.1604A>C (p.Glu535Ala)
c.1262A>C (p.Glu421Ala)
c.1406A>C (p.Glu469Ala)
c.-4294965566A>C
c.1280A>C (p.Glu427Ala)
c.1208A>C (p.Glu403Ala)
7g.140017769A>GCA369520555TBXAS1c.1463A>G (p.Glu488Gly)
c.1364+1909A>G (n.1364+1909A>G)
c.*1252A>G (n.*1252A>G)
c.1601A>G (p.Glu534Gly)
c.1466A>G (p.Glu489Gly)
c.1367+1909A>G (n.1367+1909A>G)
c.1604A>G (p.Glu535Gly)
c.1262A>G (p.Glu421Gly)
c.1406A>G (p.Glu469Gly)
c.-4294965566A>G
c.1280A>G (p.Glu427Gly)
c.1208A>G (p.Glu403Gly)
7g.140017769A>TCA369520554TBXAS1c.1463A>T (p.Glu488Val)
c.1364+1909A>T (n.1364+1909A>T)
c.*1252A>T (n.*1252A>T)
c.1601A>T (p.Glu534Val)
c.1466A>T (p.Glu489Val)
c.1367+1909A>T (n.1367+1909A>T)
c.1604A>T (p.Glu535Val)
c.1262A>T (p.Glu421Val)
c.1406A>T (p.Glu469Val)
c.-4294965566A>T
c.1280A>T (p.Glu427Val)
c.1208A>T (p.Glu403Val)
7g.140017770G>ACA457968076TBXAS1c.1464G>A (p.Glu488=)
c.1364+1910G>A (n.1364+1910G>A)
c.*1253G>A (n.*1253G>A)
c.1602G>A (p.Glu534=)
c.1467G>A (p.Glu489=)
c.1367+1910G>A (n.1367+1910G>A)
c.1605G>A (p.Glu535=)
c.1263G>A (p.Glu421=)
c.1407G>A (p.Glu469=)
c.-4294965565G>A
c.1281G>A (p.Glu427=)
c.1209G>A (p.Glu403=)
7g.140017770G>CCA369520557TBXAS1c.1464G>C (p.Glu488Asp)
c.1364+1910G>C (n.1364+1910G>C)
c.*1253G>C (n.*1253G>C)
c.1602G>C (p.Glu534Asp)
c.1467G>C (p.Glu489Asp)
c.1367+1910G>C (n.1367+1910G>C)
c.1605G>C (p.Glu535Asp)
c.1263G>C (p.Glu421Asp)
c.1407G>C (p.Glu469Asp)
c.-4294965565G>C
c.1281G>C (p.Glu427Asp)
c.1209G>C (p.Glu403Asp)
7g.140017770G=CA1747366722TBXAS1c.1464G= (p.Glu488=)
c.1364+1910G= (n.1364+1910G=)
c.*1253G= (n.*1253G=)
c.1602G= (p.Glu534=)
c.1467G= (p.Glu489=)
c.1367+1910G= (n.1367+1910G=)
c.1605G= (p.Glu535=)
c.1263G= (p.Glu421=)
c.1407G= (p.Glu469=)
c.-4294965565G=
c.1281G= (p.Glu427=)
c.1209G= (p.Glu403=)
7g.140017770G>TCA369520560TBXAS1c.1464G>T (p.Glu488Asp)
c.1364+1910G>T (n.1364+1910G>T)
c.*1253G>T (n.*1253G>T)
c.1602G>T (p.Glu534Asp)
c.1467G>T (p.Glu489Asp)
c.1367+1910G>T (n.1367+1910G>T)
c.1605G>T (p.Glu535Asp)
c.1263G>T (p.Glu421Asp)
c.1407G>T (p.Glu469Asp)
c.-4294965565G>T
c.1281G>T (p.Glu427Asp)
c.1209G>T (p.Glu403Asp)
7g.140017770_140017771insTTCA578622953TBXAS1c.1464_1465insTT (p.Val489LeufsTer4)
c.1364+1910_1364+1911insTT (n.1364+1910_1364+1911insTT)
c.*1253_*1254insTT (n.*1253_*1254insTT)
c.1602_1603insTT (p.Val535LeufsTer4)
c.1467_1468insTT (p.Val490LeufsTer4)
c.1367+1910_1367+1911insTT (n.1367+1910_1367+1911insTT)
c.1605_1606insTT (p.Val536LeufsTer4)
c.1263_1264insTT (p.Val422LeufsTer4)
c.1407_1408insTT (p.Val470LeufsTer4)
c.-4294965565_-4294965564insTT
c.1281_1282insTT (p.Val428LeufsTer4)
c.1209_1210insTT (p.Val404LeufsTer4)
 dbSNP gnomAD v2 gnomAD v4
7g.140017771G>ACA4512055TBXAS1c.1465G>A (p.Val489Ile)
c.1364+1911G>A (n.1364+1911G>A)
c.*1254G>A (n.*1254G>A)
c.1603G>A (p.Val535Ile)
c.1468G>A (p.Val490Ile)
c.1367+1911G>A (n.1367+1911G>A)
c.1606G>A (p.Val536Ile)
c.1264G>A (p.Val422Ile)
c.1408G>A (p.Val470Ile)
c.-4294965564G>A
c.1282G>A (p.Val428Ile)
c.1210G>A (p.Val404Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.140017771G>CCA369520562TBXAS1c.1465G>C (p.Val489Leu)
c.1364+1911G>C (n.1364+1911G>C)
c.*1254G>C (n.*1254G>C)
c.1603G>C (p.Val535Leu)
c.1468G>C (p.Val490Leu)
c.1367+1911G>C (n.1367+1911G>C)
c.1606G>C (p.Val536Leu)
c.1264G>C (p.Val422Leu)
c.1408G>C (p.Val470Leu)
c.-4294965564G>C
c.1282G>C (p.Val428Leu)
c.1210G>C (p.Val404Leu)
7g.140017771G=CA1747366724TBXAS1c.1465G= (p.Val489=)
c.1364+1911G= (n.1364+1911G=)
c.*1254G= (n.*1254G=)
c.1603G= (p.Val535=)
c.1468G= (p.Val490=)
c.1367+1911G= (n.1367+1911G=)
c.1606G= (p.Val536=)
c.1264G= (p.Val422=)
c.1408G= (p.Val470=)
c.-4294965564G=
c.1282G= (p.Val428=)
c.1210G= (p.Val404=)
7g.140017771G>TCA369520565TBXAS1c.1465G>T (p.Val489Phe)
c.1364+1911G>T (n.1364+1911G>T)
c.*1254G>T (n.*1254G>T)
c.1603G>T (p.Val535Phe)
c.1468G>T (p.Val490Phe)
c.1367+1911G>T (n.1367+1911G>T)
c.1606G>T (p.Val536Phe)
c.1264G>T (p.Val422Phe)
c.1408G>T (p.Val470Phe)
c.-4294965564G>T
c.1282G>T (p.Val428Phe)
c.1210G>T (p.Val404Phe)
7g.140017771_140017775delinsGTCAACA1747366723TBXAS1c.1465_1469delinsGTCAA (p.Val489=)
c.1364+1911_1364+1915delinsGTCAA (n.1364+1911_1364+1915delinsGTCAA)
c.*1254_*1258delinsGTCAA (n.*1254_*1258delinsGTCAA)
c.1603_1607delinsGTCAA (p.Val535=)
c.1468_1472delinsGTCAA (p.Val490=)
c.1367+1911_1367+1915delinsGTCAA (n.1367+1911_1367+1915delinsGTCAA)
c.1606_1610delinsGTCAA (p.Val536=)
c.1264_1268delinsGTCAA (p.Val422=)
c.1408_1412delinsGTCAA (p.Val470=)
c.-4294965564_-4294965560delinsGTCAA
c.1282_1286delinsGTCAA (p.Val428=)
c.1210_1214delinsGTCAA (p.Val404=)
7g.140017772T>ACA369520570TBXAS1c.1466T>A (p.Val489Asp)
c.1364+1912T>A (n.1364+1912T>A)
c.*1255T>A (n.*1255T>A)
c.1604T>A (p.Val535Asp)
c.1469T>A (p.Val490Asp)
c.1367+1912T>A (n.1367+1912T>A)
c.1607T>A (p.Val536Asp)
c.1265T>A (p.Val422Asp)
c.1409T>A (p.Val470Asp)
c.-4294965563T>A
c.1283T>A (p.Val428Asp)
c.1211T>A (p.Val404Asp)
7g.140017772T>CCA369520573TBXAS1c.1466T>C (p.Val489Ala)
c.1364+1912T>C (n.1364+1912T>C)
c.*1255T>C (n.*1255T>C)
c.1604T>C (p.Val535Ala)
c.1469T>C (p.Val490Ala)
c.1367+1912T>C (n.1367+1912T>C)
c.1607T>C (p.Val536Ala)
c.1265T>C (p.Val422Ala)
c.1409T>C (p.Val470Ala)
c.-4294965563T>C
c.1283T>C (p.Val428Ala)
c.1211T>C (p.Val404Ala)
7g.140017772T>GCA369520577TBXAS1c.1466T>G (p.Val489Gly)
c.1364+1912T>G (n.1364+1912T>G)
c.*1255T>G (n.*1255T>G)
c.1604T>G (p.Val535Gly)
c.1469T>G (p.Val490Gly)
c.1367+1912T>G (n.1367+1912T>G)
c.1607T>G (p.Val536Gly)
c.1265T>G (p.Val422Gly)
c.1409T>G (p.Val470Gly)
c.-4294965563T>G
c.1283T>G (p.Val428Gly)
c.1211T>G (p.Val404Gly)
7g.140017772_140017775delCA578622954TBXAS1c.1466_1469del (p.Val489GlyfsTer2)
c.1364+1912_1364+1915del (n.1364+1912_1364+1915del)
c.*1255_*1258del (n.*1255_*1258del)
c.1604_1607del (p.Val535GlyfsTer2)
c.1469_1472del (p.Val490GlyfsTer2)
c.1367+1912_1367+1915del (n.1367+1912_1367+1915del)
c.1607_1610del (p.Val536GlyfsTer2)
c.1265_1268del (p.Val422GlyfsTer2)
c.1409_1412del (p.Val470GlyfsTer2)
c.-4294965563_-4294965560del
c.1283_1286del (p.Val428GlyfsTer2)
c.1211_1214del (p.Val404GlyfsTer2)
 dbSNP gnomAD v2 gnomAD v4
7g.140017773C>ACA457968077TBXAS1c.1467C>A (p.Val489=)
c.1364+1913C>A (n.1364+1913C>A)
c.*1256C>A (n.*1256C>A)
c.1605C>A (p.Val535=)
c.1470C>A (p.Val490=)
c.1367+1913C>A (n.1367+1913C>A)
c.1608C>A (p.Val536=)
c.1266C>A (p.Val422=)
c.1410C>A (p.Val470=)
c.-4294965562C>A
c.1284C>A (p.Val428=)
c.1212C>A (p.Val404=)
7g.140017773C=CA1747366725TBXAS1c.1467C= (p.Val489=)
c.1364+1913C= (n.1364+1913C=)
c.*1256C= (n.*1256C=)
c.1605C= (p.Val535=)
c.1470C= (p.Val490=)
c.1367+1913C= (n.1367+1913C=)
c.1608C= (p.Val536=)
c.1266C= (p.Val422=)
c.1410C= (p.Val470=)
c.-4294965562C=
c.1284C= (p.Val428=)
c.1212C= (p.Val404=)
7g.140017773C>GCA457968078TBXAS1c.1467C>G (p.Val489=)
c.1364+1913C>G (n.1364+1913C>G)
c.*1256C>G (n.*1256C>G)
c.1605C>G (p.Val535=)
c.1470C>G (p.Val490=)
c.1367+1913C>G (n.1367+1913C>G)
c.1608C>G (p.Val536=)
c.1266C>G (p.Val422=)
c.1410C>G (p.Val470=)
c.-4294965562C>G
c.1284C>G (p.Val428=)
c.1212C>G (p.Val404=)
 dbSNP gnomAD v2 gnomAD v4
7g.140017773C>TCA457968079TBXAS1c.1467C>T (p.Val489=)
c.1364+1913C>T (n.1364+1913C>T)
c.*1256C>T (n.*1256C>T)
c.1605C>T (p.Val535=)
c.1470C>T (p.Val490=)
c.1367+1913C>T (n.1367+1913C>T)
c.1608C>T (p.Val536=)
c.1266C>T (p.Val422=)
c.1410C>T (p.Val470=)
c.-4294965562C>T
c.1284C>T (p.Val428=)
c.1212C>T (p.Val404=)
7g.140017773_140017774delCA2579040037TBXAS1c.1467_1468del (p.Lys490ValfsTer17)
c.1364+1913_1364+1914del (n.1364+1913_1364+1914del)
c.*1256_*1257del (n.*1256_*1257del)
c.1605_1606del (p.Lys536ValfsTer17)
c.1470_1471del (p.Lys491ValfsTer17)
c.1367+1913_1367+1914del (n.1367+1913_1367+1914del)
c.1608_1609del (p.Lys537ValfsTer17)
c.1266_1267del (p.Lys423ValfsTer17)
c.1410_1411del (p.Lys471ValfsTer17)
c.-4294965562_-4294965561del
c.1284_1285del (p.Lys429ValfsTer17)
c.1212_1213del (p.Lys405ValfsTer17)
7g.140017774A=CA1747366726TBXAS1c.1468A= (p.Lys490=)
c.1364+1914A= (n.1364+1914A=)
c.*1257A= (n.*1257A=)
c.1606A= (p.Lys536=)
c.1471A= (p.Lys491=)
c.1367+1914A= (n.1367+1914A=)
c.1609A= (p.Lys537=)
c.1267A= (p.Lys423=)
c.1411A= (p.Lys471=)
c.-4294965561A=
c.1285A= (p.Lys429=)
c.1213A= (p.Lys405=)
7g.140017774A>CCA369520582TBXAS1c.1468A>C (p.Lys490Gln)
c.1364+1914A>C (n.1364+1914A>C)
c.*1257A>C (n.*1257A>C)
c.1606A>C (p.Lys536Gln)
c.1471A>C (p.Lys491Gln)
c.1367+1914A>C (n.1367+1914A>C)
c.1609A>C (p.Lys537Gln)
c.1267A>C (p.Lys423Gln)
c.1411A>C (p.Lys471Gln)
c.-4294965561A>C
c.1285A>C (p.Lys429Gln)
c.1213A>C (p.Lys405Gln)
7g.140017774A>GCA4512056TBXAS1c.1468A>G (p.Lys490Glu)
c.1364+1914A>G (n.1364+1914A>G)
c.*1257A>G (n.*1257A>G)
c.1606A>G (p.Lys536Glu)
c.1471A>G (p.Lys491Glu)
c.1367+1914A>G (n.1367+1914A>G)
c.1609A>G (p.Lys537Glu)
c.1267A>G (p.Lys423Glu)
c.1411A>G (p.Lys471Glu)
c.-4294965561A>G
c.1285A>G (p.Lys429Glu)
c.1213A>G (p.Lys405Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.140017774A>TCA369520586TBXAS1c.1468A>T (p.Lys490Ter)
c.1364+1914A>T (n.1364+1914A>T)
c.*1257A>T (n.*1257A>T)
c.1606A>T (p.Lys536Ter)
c.1471A>T (p.Lys491Ter)
c.1367+1914A>T (n.1367+1914A>T)
c.1609A>T (p.Lys537Ter)
c.1267A>T (p.Lys423Ter)
c.1411A>T (p.Lys471Ter)
c.-4294965561A>T
c.1285A>T (p.Lys429Ter)
c.1213A>T (p.Lys405Ter)
7g.140017775delCA2685192355TBXAS1c.1469del (p.Lys490SerfsTer2)
c.1364+1915del (n.1364+1915del)
c.*1258del (n.*1258del)
c.1607del (p.Lys536SerfsTer2)
c.1472del (p.Lys491SerfsTer2)
c.1367+1915del (n.1367+1915del)
c.1610del (p.Lys537SerfsTer2)
c.1268del (p.Lys423SerfsTer2)
c.1412del (p.Lys471SerfsTer2)
c.-4294965560del
c.1286del (p.Lys429SerfsTer2)
c.1214del (p.Lys405SerfsTer2)
 gnomAD v4

Number of alleles fetched