Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.120978467_120978469delCA645539539GLI2c.1351_1353del (p.Lys451del)
c.1402_1404del (p.Lys468del)
c.415_417del (p.Lys139del)
c.*450_*452del (n.*450_*452del)
n.1376_1378del
c.*501_*503del (n.*501_*503del)
c.1384_1386del (p.Lys462del)
c.1261_1263del (p.Lys421del)
c.1207_1209del (p.Lys403del)
c.1027_1029del (p.Lys343del)
c.976_978del (p.Lys326del)
c.1654_1656del (p.Lys552del)
c.1303_1305del (p.Lys435del)
c.1603_1605del (p.Lys535del)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.120978467A>CCA348161440GLI2c.1351A>C (p.Lys451Gln)
c.1402A>C (p.Lys468Gln)
c.415A>C (p.Lys139Gln)
c.*450A>C (n.*450A>C)
n.1376A>C
c.*501A>C (n.*501A>C)
c.1384A>C (p.Lys462Gln)
c.1261A>C (p.Lys421Gln)
c.1207A>C (p.Lys403Gln)
c.1027A>C (p.Lys343Gln)
c.976A>C (p.Lys326Gln)
c.1654A>C (p.Lys552Gln)
c.1303A>C (p.Lys435Gln)
c.1603A>C (p.Lys535Gln)
2g.120978467A>GCA348161441GLI2c.1351A>G (p.Lys451Glu)
c.1402A>G (p.Lys468Glu)
c.415A>G (p.Lys139Glu)
c.*450A>G (n.*450A>G)
n.1376A>G
c.*501A>G (n.*501A>G)
c.1384A>G (p.Lys462Glu)
c.1261A>G (p.Lys421Glu)
c.1207A>G (p.Lys403Glu)
c.1027A>G (p.Lys343Glu)
c.976A>G (p.Lys326Glu)
c.1654A>G (p.Lys552Glu)
c.1303A>G (p.Lys435Glu)
c.1603A>G (p.Lys535Glu)
2g.120978467A>TCA348161442GLI2c.1351A>T (p.Lys451Ter)
c.1402A>T (p.Lys468Ter)
c.415A>T (p.Lys139Ter)
c.*450A>T (n.*450A>T)
n.1376A>T
c.*501A>T (n.*501A>T)
c.1384A>T (p.Lys462Ter)
c.1261A>T (p.Lys421Ter)
c.1207A>T (p.Lys403Ter)
c.1027A>T (p.Lys343Ter)
c.976A>T (p.Lys326Ter)
c.1654A>T (p.Lys552Ter)
c.1303A>T (p.Lys435Ter)
c.1603A>T (p.Lys535Ter)
2g.120978468A>CCA348161443GLI2c.1352A>C (p.Lys451Thr)
c.1403A>C (p.Lys468Thr)
c.416A>C (p.Lys139Thr)
c.*451A>C (n.*451A>C)
n.1377A>C
c.*502A>C (n.*502A>C)
c.1385A>C (p.Lys462Thr)
c.1262A>C (p.Lys421Thr)
c.1208A>C (p.Lys403Thr)
c.1028A>C (p.Lys343Thr)
c.977A>C (p.Lys326Thr)
c.1655A>C (p.Lys552Thr)
c.1304A>C (p.Lys435Thr)
c.1604A>C (p.Lys535Thr)
2g.120978468A>GCA348161444GLI2c.1352A>G (p.Lys451Arg)
c.1403A>G (p.Lys468Arg)
c.416A>G (p.Lys139Arg)
c.*451A>G (n.*451A>G)
n.1377A>G
c.*502A>G (n.*502A>G)
c.1385A>G (p.Lys462Arg)
c.1262A>G (p.Lys421Arg)
c.1208A>G (p.Lys403Arg)
c.1028A>G (p.Lys343Arg)
c.977A>G (p.Lys326Arg)
c.1655A>G (p.Lys552Arg)
c.1304A>G (p.Lys435Arg)
c.1604A>G (p.Lys535Arg)
2g.120978468A>TCA348161445GLI2c.1352A>T (p.Lys451Met)
c.1403A>T (p.Lys468Met)
c.416A>T (p.Lys139Met)
c.*451A>T (n.*451A>T)
n.1377A>T
c.*502A>T (n.*502A>T)
c.1385A>T (p.Lys462Met)
c.1262A>T (p.Lys421Met)
c.1208A>T (p.Lys403Met)
c.1028A>T (p.Lys343Met)
c.977A>T (p.Lys326Met)
c.1655A>T (p.Lys552Met)
c.1304A>T (p.Lys435Met)
c.1604A>T (p.Lys535Met)
2g.120978469G>ACA54373166GLI2c.1353G>A (p.Lys451=)
c.1404G>A (p.Lys468=)
c.417G>A (p.Lys139=)
c.*452G>A (n.*452G>A)
n.1378G>A
c.*503G>A (n.*503G>A)
c.1386G>A (p.Lys462=)
c.1263G>A (p.Lys421=)
c.1209G>A (p.Lys403=)
c.1029G>A (p.Lys343=)
c.978G>A (p.Lys326=)
c.1656G>A (p.Lys552=)
c.1305G>A (p.Lys435=)
c.1605G>A (p.Lys535=)
 dbSNP gnomAD v3 gnomAD v4
2g.120978469G>CCA348161446GLI2c.1353G>C (p.Lys451Asn)
c.1404G>C (p.Lys468Asn)
c.417G>C (p.Lys139Asn)
c.*452G>C (n.*452G>C)
n.1378G>C
c.*503G>C (n.*503G>C)
c.1386G>C (p.Lys462Asn)
c.1263G>C (p.Lys421Asn)
c.1209G>C (p.Lys403Asn)
c.1029G>C (p.Lys343Asn)
c.978G>C (p.Lys326Asn)
c.1656G>C (p.Lys552Asn)
c.1305G>C (p.Lys435Asn)
c.1605G>C (p.Lys535Asn)
2g.120978469G=CA1283790659GLI2c.1353G= (p.Lys451=)
c.1404G= (p.Lys468=)
c.417G= (p.Lys139=)
c.*452G= (n.*452G=)
n.1378G=
c.*503G= (n.*503G=)
c.1386G= (p.Lys462=)
c.1263G= (p.Lys421=)
c.1209G= (p.Lys403=)
c.1029G= (p.Lys343=)
c.978G= (p.Lys326=)
c.1656G= (p.Lys552=)
c.1305G= (p.Lys435=)
c.1605G= (p.Lys535=)
2g.120978469G>TCA348161447GLI2c.1353G>T (p.Lys451Asn)
c.1404G>T (p.Lys468Asn)
c.417G>T (p.Lys139Asn)
c.*452G>T (n.*452G>T)
n.1378G>T
c.*503G>T (n.*503G>T)
c.1386G>T (p.Lys462Asn)
c.1263G>T (p.Lys421Asn)
c.1209G>T (p.Lys403Asn)
c.1029G>T (p.Lys343Asn)
c.978G>T (p.Lys326Asn)
c.1656G>T (p.Lys552Asn)
c.1305G>T (p.Lys435Asn)
c.1605G>T (p.Lys535Asn)
2g.120978470G>ACA348161448GLI2c.1354G>A (p.Glu452Lys)
c.1405G>A (p.Glu469Lys)
c.418G>A (p.Glu140Lys)
c.*453G>A (n.*453G>A)
n.1379G>A
c.*504G>A (n.*504G>A)
c.1387G>A (p.Glu463Lys)
c.1264G>A (p.Glu422Lys)
c.1210G>A (p.Glu404Lys)
c.1030G>A (p.Glu344Lys)
c.979G>A (p.Glu327Lys)
c.1657G>A (p.Glu553Lys)
c.1306G>A (p.Glu436Lys)
c.1606G>A (p.Glu536Lys)
2g.120978470G>CCA348161450GLI2c.1354G>C (p.Glu452Gln)
c.1405G>C (p.Glu469Gln)
c.418G>C (p.Glu140Gln)
c.*453G>C (n.*453G>C)
n.1379G>C
c.*504G>C (n.*504G>C)
c.1387G>C (p.Glu463Gln)
c.1264G>C (p.Glu422Gln)
c.1210G>C (p.Glu404Gln)
c.1030G>C (p.Glu344Gln)
c.979G>C (p.Glu327Gln)
c.1657G>C (p.Glu553Gln)
c.1306G>C (p.Glu436Gln)
c.1606G>C (p.Glu536Gln)
 COSMIC
2g.120978470G>TCA348161449GLI2c.1354G>T (p.Glu452Ter)
c.1405G>T (p.Glu469Ter)
c.418G>T (p.Glu140Ter)
c.*453G>T (n.*453G>T)
n.1379G>T
c.*504G>T (n.*504G>T)
c.1387G>T (p.Glu463Ter)
c.1264G>T (p.Glu422Ter)
c.1210G>T (p.Glu404Ter)
c.1030G>T (p.Glu344Ter)
c.979G>T (p.Glu327Ter)
c.1657G>T (p.Glu553Ter)
c.1306G>T (p.Glu436Ter)
c.1606G>T (p.Glu536Ter)
2g.120978471A>CCA348161451GLI2c.1355A>C (p.Glu452Ala)
c.1406A>C (p.Glu469Ala)
c.419A>C (p.Glu140Ala)
c.*454A>C (n.*454A>C)
n.1380A>C
c.*505A>C (n.*505A>C)
c.1388A>C (p.Glu463Ala)
c.1265A>C (p.Glu422Ala)
c.1211A>C (p.Glu404Ala)
c.1031A>C (p.Glu344Ala)
c.980A>C (p.Glu327Ala)
c.1658A>C (p.Glu553Ala)
c.1307A>C (p.Glu436Ala)
c.1607A>C (p.Glu536Ala)
2g.120978471A>GCA348161452GLI2c.1355A>G (p.Glu452Gly)
c.1406A>G (p.Glu469Gly)
c.419A>G (p.Glu140Gly)
c.*454A>G (n.*454A>G)
n.1380A>G
c.*505A>G (n.*505A>G)
c.1388A>G (p.Glu463Gly)
c.1265A>G (p.Glu422Gly)
c.1211A>G (p.Glu404Gly)
c.1031A>G (p.Glu344Gly)
c.980A>G (p.Glu327Gly)
c.1658A>G (p.Glu553Gly)
c.1307A>G (p.Glu436Gly)
c.1607A>G (p.Glu536Gly)
2g.120978471A>TCA348161453GLI2c.1355A>T (p.Glu452Val)
c.1406A>T (p.Glu469Val)
c.419A>T (p.Glu140Val)
c.*454A>T (n.*454A>T)
n.1380A>T
c.*505A>T (n.*505A>T)
c.1388A>T (p.Glu463Val)
c.1265A>T (p.Glu422Val)
c.1211A>T (p.Glu404Val)
c.1031A>T (p.Glu344Val)
c.980A>T (p.Glu327Val)
c.1658A>T (p.Glu553Val)
c.1307A>T (p.Glu436Val)
c.1607A>T (p.Glu536Val)
2g.120978472G>ACA428229917GLI2c.1356G>A (p.Glu452=)
c.1407G>A (p.Glu469=)
c.420G>A (p.Glu140=)
c.*455G>A (n.*455G>A)
n.1381G>A
c.*506G>A (n.*506G>A)
c.1389G>A (p.Glu463=)
c.1266G>A (p.Glu422=)
c.1212G>A (p.Glu404=)
c.1032G>A (p.Glu344=)
c.981G>A (p.Glu327=)
c.1659G>A (p.Glu553=)
c.1308G>A (p.Glu436=)
c.1608G>A (p.Glu536=)
2g.120978472G>CCA348161454GLI2c.1356G>C (p.Glu452Asp)
c.1407G>C (p.Glu469Asp)
c.420G>C (p.Glu140Asp)
c.*455G>C (n.*455G>C)
n.1381G>C
c.*506G>C (n.*506G>C)
c.1389G>C (p.Glu463Asp)
c.1266G>C (p.Glu422Asp)
c.1212G>C (p.Glu404Asp)
c.1032G>C (p.Glu344Asp)
c.981G>C (p.Glu327Asp)
c.1659G>C (p.Glu553Asp)
c.1308G>C (p.Glu436Asp)
c.1608G>C (p.Glu536Asp)
2g.120978472G>TCA348161455GLI2c.1356G>T (p.Glu452Asp)
c.1407G>T (p.Glu469Asp)
c.420G>T (p.Glu140Asp)
c.*455G>T (n.*455G>T)
n.1381G>T
c.*506G>T (n.*506G>T)
c.1389G>T (p.Glu463Asp)
c.1266G>T (p.Glu422Asp)
c.1212G>T (p.Glu404Asp)
c.1032G>T (p.Glu344Asp)
c.981G>T (p.Glu327Asp)
c.1659G>T (p.Glu553Asp)
c.1308G>T (p.Glu436Asp)
c.1608G>T (p.Glu536Asp)
2g.120978473T>ACA348161456GLI2c.1357T>A (p.Phe453Ile)
c.1408T>A (p.Phe470Ile)
c.421T>A (p.Phe141Ile)
c.*456T>A (n.*456T>A)
n.1382T>A
c.*507T>A (n.*507T>A)
c.1390T>A (p.Phe464Ile)
c.1267T>A (p.Phe423Ile)
c.1213T>A (p.Phe405Ile)
c.1033T>A (p.Phe345Ile)
c.982T>A (p.Phe328Ile)
c.1660T>A (p.Phe554Ile)
c.1309T>A (p.Phe437Ile)
c.1609T>A (p.Phe537Ile)
2g.120978473T>CCA348161457GLI2c.1357T>C (p.Phe453Leu)
c.1408T>C (p.Phe470Leu)
c.421T>C (p.Phe141Leu)
c.*456T>C (n.*456T>C)
n.1382T>C
c.*507T>C (n.*507T>C)
c.1390T>C (p.Phe464Leu)
c.1267T>C (p.Phe423Leu)
c.1213T>C (p.Phe405Leu)
c.1033T>C (p.Phe345Leu)
c.982T>C (p.Phe328Leu)
c.1660T>C (p.Phe554Leu)
c.1309T>C (p.Phe437Leu)
c.1609T>C (p.Phe537Leu)
2g.120978473T>GCA348161458GLI2c.1357T>G (p.Phe453Val)
c.1408T>G (p.Phe470Val)
c.421T>G (p.Phe141Val)
c.*456T>G (n.*456T>G)
n.1382T>G
c.*507T>G (n.*507T>G)
c.1390T>G (p.Phe464Val)
c.1267T>G (p.Phe423Val)
c.1213T>G (p.Phe405Val)
c.1033T>G (p.Phe345Val)
c.982T>G (p.Phe328Val)
c.1660T>G (p.Phe554Val)
c.1309T>G (p.Phe437Val)
c.1609T>G (p.Phe537Val)
2g.120978474T>ACA348161459GLI2c.1358T>A (p.Phe453Tyr)
c.1409T>A (p.Phe470Tyr)
c.422T>A (p.Phe141Tyr)
c.*457T>A (n.*457T>A)
n.1383T>A
c.*508T>A (n.*508T>A)
c.1391T>A (p.Phe464Tyr)
c.1268T>A (p.Phe423Tyr)
c.1214T>A (p.Phe405Tyr)
c.1034T>A (p.Phe345Tyr)
c.983T>A (p.Phe328Tyr)
c.1661T>A (p.Phe554Tyr)
c.1310T>A (p.Phe437Tyr)
c.1610T>A (p.Phe537Tyr)
2g.120978474T>CCA348161460GLI2c.1358T>C (p.Phe453Ser)
c.1409T>C (p.Phe470Ser)
c.422T>C (p.Phe141Ser)
c.*457T>C (n.*457T>C)
n.1383T>C
c.*508T>C (n.*508T>C)
c.1391T>C (p.Phe464Ser)
c.1268T>C (p.Phe423Ser)
c.1214T>C (p.Phe405Ser)
c.1034T>C (p.Phe345Ser)
c.983T>C (p.Phe328Ser)
c.1661T>C (p.Phe554Ser)
c.1310T>C (p.Phe437Ser)
c.1610T>C (p.Phe537Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.120978474T>GCA348161461GLI2c.1358T>G (p.Phe453Cys)
c.1409T>G (p.Phe470Cys)
c.422T>G (p.Phe141Cys)
c.*457T>G (n.*457T>G)
n.1383T>G
c.*508T>G (n.*508T>G)
c.1391T>G (p.Phe464Cys)
c.1268T>G (p.Phe423Cys)
c.1214T>G (p.Phe405Cys)
c.1034T>G (p.Phe345Cys)
c.983T>G (p.Phe328Cys)
c.1661T>G (p.Phe554Cys)
c.1310T>G (p.Phe437Cys)
c.1610T>G (p.Phe537Cys)
2g.120978474T=CA1283790660GLI2c.1358T= (p.Phe453=)
c.1409T= (p.Phe470=)
c.422T= (p.Phe141=)
c.*457T= (n.*457T=)
n.1383T=
c.*508T= (n.*508T=)
c.1391T= (p.Phe464=)
c.1268T= (p.Phe423=)
c.1214T= (p.Phe405=)
c.1034T= (p.Phe345=)
c.983T= (p.Phe328=)
c.1661T= (p.Phe554=)
c.1310T= (p.Phe437=)
c.1610T= (p.Phe537=)
2g.120978475T>ACA348161462GLI2c.1359T>A (p.Phe453Leu)
c.1410T>A (p.Phe470Leu)
c.423T>A (p.Phe141Leu)
c.*458T>A (n.*458T>A)
n.1384T>A
c.*509T>A (n.*509T>A)
c.1392T>A (p.Phe464Leu)
c.1269T>A (p.Phe423Leu)
c.1215T>A (p.Phe405Leu)
c.1035T>A (p.Phe345Leu)
c.984T>A (p.Phe328Leu)
c.1662T>A (p.Phe554Leu)
c.1311T>A (p.Phe437Leu)
c.1611T>A (p.Phe537Leu)
2g.120978475T>CCA428229918GLI2c.1359T>C (p.Phe453=)
c.1410T>C (p.Phe470=)
c.423T>C (p.Phe141=)
c.*458T>C (n.*458T>C)
n.1384T>C
c.*509T>C (n.*509T>C)
c.1392T>C (p.Phe464=)
c.1269T>C (p.Phe423=)
c.1215T>C (p.Phe405=)
c.1035T>C (p.Phe345=)
c.984T>C (p.Phe328=)
c.1662T>C (p.Phe554=)
c.1311T>C (p.Phe437=)
c.1611T>C (p.Phe537=)
 dbSNP gnomAD v4
2g.120978475T>GCA348161463GLI2c.1359T>G (p.Phe453Leu)
c.1410T>G (p.Phe470Leu)
c.423T>G (p.Phe141Leu)
c.*458T>G (n.*458T>G)
n.1384T>G
c.*509T>G (n.*509T>G)
c.1392T>G (p.Phe464Leu)
c.1269T>G (p.Phe423Leu)
c.1215T>G (p.Phe405Leu)
c.1035T>G (p.Phe345Leu)
c.984T>G (p.Phe328Leu)
c.1662T>G (p.Phe554Leu)
c.1311T>G (p.Phe437Leu)
c.1611T>G (p.Phe537Leu)
2g.120978475T=CA1283790661GLI2c.1359T= (p.Phe453=)
c.1410T= (p.Phe470=)
c.423T= (p.Phe141=)
c.*458T= (n.*458T=)
n.1384T=
c.*509T= (n.*509T=)
c.1392T= (p.Phe464=)
c.1269T= (p.Phe423=)
c.1215T= (p.Phe405=)
c.1035T= (p.Phe345=)
c.984T= (p.Phe328=)
c.1662T= (p.Phe554=)
c.1311T= (p.Phe437=)
c.1611T= (p.Phe537=)
2g.120978476G>ACA348161464GLI2c.1360G>A (p.Val454Met)
c.1411G>A (p.Val471Met)
c.424G>A (p.Val142Met)
c.*459G>A (n.*459G>A)
n.1385G>A
c.*510G>A (n.*510G>A)
c.1393G>A (p.Val465Met)
c.1270G>A (p.Val424Met)
c.1216G>A (p.Val406Met)
c.1036G>A (p.Val346Met)
c.985G>A (p.Val329Met)
c.1663G>A (p.Val555Met)
c.1312G>A (p.Val438Met)
c.1612G>A (p.Val538Met)
2g.120978476G>CCA348161465GLI2c.1360G>C (p.Val454Leu)
c.1411G>C (p.Val471Leu)
c.424G>C (p.Val142Leu)
c.*459G>C (n.*459G>C)
n.1385G>C
c.*510G>C (n.*510G>C)
c.1393G>C (p.Val465Leu)
c.1270G>C (p.Val424Leu)
c.1216G>C (p.Val406Leu)
c.1036G>C (p.Val346Leu)
c.985G>C (p.Val329Leu)
c.1663G>C (p.Val555Leu)
c.1312G>C (p.Val438Leu)
c.1612G>C (p.Val538Leu)
2g.120978476G>TCA348161466GLI2c.1360G>T (p.Val454Leu)
c.1411G>T (p.Val471Leu)
c.424G>T (p.Val142Leu)
c.*459G>T (n.*459G>T)
n.1385G>T
c.*510G>T (n.*510G>T)
c.1393G>T (p.Val465Leu)
c.1270G>T (p.Val424Leu)
c.1216G>T (p.Val406Leu)
c.1036G>T (p.Val346Leu)
c.985G>T (p.Val329Leu)
c.1663G>T (p.Val555Leu)
c.1312G>T (p.Val438Leu)
c.1612G>T (p.Val538Leu)
 gnomAD v4
2g.120978477T>ACA348161467GLI2c.1361T>A (p.Val454Glu)
c.1412T>A (p.Val471Glu)
c.425T>A (p.Val142Glu)
c.*460T>A (n.*460T>A)
n.1386T>A
c.*511T>A (n.*511T>A)
c.1394T>A (p.Val465Glu)
c.1271T>A (p.Val424Glu)
c.1217T>A (p.Val406Glu)
c.1037T>A (p.Val346Glu)
c.986T>A (p.Val329Glu)
c.1664T>A (p.Val555Glu)
c.1313T>A (p.Val438Glu)
c.1613T>A (p.Val538Glu)
2g.120978477T>CCA348161468GLI2c.1361T>C (p.Val454Ala)
c.1412T>C (p.Val471Ala)
c.425T>C (p.Val142Ala)
c.*460T>C (n.*460T>C)
n.1386T>C
c.*511T>C (n.*511T>C)
c.1394T>C (p.Val465Ala)
c.1271T>C (p.Val424Ala)
c.1217T>C (p.Val406Ala)
c.1037T>C (p.Val346Ala)
c.986T>C (p.Val329Ala)
c.1664T>C (p.Val555Ala)
c.1313T>C (p.Val438Ala)
c.1613T>C (p.Val538Ala)
2g.120978477T>GCA348161469GLI2c.1361T>G (p.Val454Gly)
c.1412T>G (p.Val471Gly)
c.425T>G (p.Val142Gly)
c.*460T>G (n.*460T>G)
n.1386T>G
c.*511T>G (n.*511T>G)
c.1394T>G (p.Val465Gly)
c.1271T>G (p.Val424Gly)
c.1217T>G (p.Val406Gly)
c.1037T>G (p.Val346Gly)
c.986T>G (p.Val329Gly)
c.1664T>G (p.Val555Gly)
c.1313T>G (p.Val438Gly)
c.1613T>G (p.Val538Gly)
2g.120978478G>ACA428229919GLI2c.1362G>A (p.Val454=)
c.1413G>A (p.Val471=)
c.426G>A (p.Val142=)
c.*461G>A (n.*461G>A)
n.1387G>A
c.*512G>A (n.*512G>A)
c.1395G>A (p.Val465=)
c.1272G>A (p.Val424=)
c.1218G>A (p.Val406=)
c.1038G>A (p.Val346=)
c.987G>A (p.Val329=)
c.1665G>A (p.Val555=)
c.1314G>A (p.Val438=)
c.1614G>A (p.Val538=)
2g.120978478G>CCA428229920GLI2c.1362G>C (p.Val454=)
c.1413G>C (p.Val471=)
c.426G>C (p.Val142=)
c.*461G>C (n.*461G>C)
n.1387G>C
c.*512G>C (n.*512G>C)
c.1395G>C (p.Val465=)
c.1272G>C (p.Val424=)
c.1218G>C (p.Val406=)
c.1038G>C (p.Val346=)
c.987G>C (p.Val329=)
c.1665G>C (p.Val555=)
c.1314G>C (p.Val438=)
c.1614G>C (p.Val538=)
 gnomAD v4
2g.120978478G>TCA428229921GLI2c.1362G>T (p.Val454=)
c.1413G>T (p.Val471=)
c.426G>T (p.Val142=)
c.*461G>T (n.*461G>T)
n.1387G>T
c.*512G>T (n.*512G>T)
c.1395G>T (p.Val465=)
c.1272G>T (p.Val424=)
c.1218G>T (p.Val406=)
c.1038G>T (p.Val346=)
c.987G>T (p.Val329=)
c.1665G>T (p.Val555=)
c.1314G>T (p.Val438=)
c.1614G>T (p.Val538=)
2g.120978479T>ACA348161472GLI2c.1363T>A (p.Cys455Ser)
c.1414T>A (p.Cys472Ser)
c.427T>A (p.Cys143Ser)
c.*462T>A (n.*462T>A)
n.1388T>A
c.*513T>A (n.*513T>A)
c.1396T>A (p.Cys466Ser)
c.1273T>A (p.Cys425Ser)
c.1219T>A (p.Cys407Ser)
c.1039T>A (p.Cys347Ser)
c.988T>A (p.Cys330Ser)
c.1666T>A (p.Cys556Ser)
c.1315T>A (p.Cys439Ser)
c.1615T>A (p.Cys539Ser)
2g.120978479T>CCA348161470GLI2c.1363T>C (p.Cys455Arg)
c.1414T>C (p.Cys472Arg)
c.427T>C (p.Cys143Arg)
c.*462T>C (n.*462T>C)
n.1388T>C
c.*513T>C (n.*513T>C)
c.1396T>C (p.Cys466Arg)
c.1273T>C (p.Cys425Arg)
c.1219T>C (p.Cys407Arg)
c.1039T>C (p.Cys347Arg)
c.988T>C (p.Cys330Arg)
c.1666T>C (p.Cys556Arg)
c.1315T>C (p.Cys439Arg)
c.1615T>C (p.Cys539Arg)
2g.120978479T>GCA348161471GLI2c.1363T>G (p.Cys455Gly)
c.1414T>G (p.Cys472Gly)
c.427T>G (p.Cys143Gly)
c.*462T>G (n.*462T>G)
n.1388T>G
c.*513T>G (n.*513T>G)
c.1396T>G (p.Cys466Gly)
c.1273T>G (p.Cys425Gly)
c.1219T>G (p.Cys407Gly)
c.1039T>G (p.Cys347Gly)
c.988T>G (p.Cys330Gly)
c.1666T>G (p.Cys556Gly)
c.1315T>G (p.Cys439Gly)
c.1615T>G (p.Cys539Gly)
2g.120978480G>ACA348161473GLI2c.1364G>A (p.Cys455Tyr)
c.1415G>A (p.Cys472Tyr)
c.428G>A (p.Cys143Tyr)
c.*463G>A (n.*463G>A)
n.1389G>A
c.*514G>A (n.*514G>A)
c.1397G>A (p.Cys466Tyr)
c.1274G>A (p.Cys425Tyr)
c.1220G>A (p.Cys407Tyr)
c.1040G>A (p.Cys347Tyr)
c.989G>A (p.Cys330Tyr)
c.1667G>A (p.Cys556Tyr)
c.1316G>A (p.Cys439Tyr)
c.1616G>A (p.Cys539Tyr)
2g.120978480G>CCA348161474GLI2c.1364G>C (p.Cys455Ser)
c.1415G>C (p.Cys472Ser)
c.428G>C (p.Cys143Ser)
c.*463G>C (n.*463G>C)
n.1389G>C
c.*514G>C (n.*514G>C)
c.1397G>C (p.Cys466Ser)
c.1274G>C (p.Cys425Ser)
c.1220G>C (p.Cys407Ser)
c.1040G>C (p.Cys347Ser)
c.989G>C (p.Cys330Ser)
c.1667G>C (p.Cys556Ser)
c.1316G>C (p.Cys439Ser)
c.1616G>C (p.Cys539Ser)
2g.120978480G>TCA348161475GLI2c.1364G>T (p.Cys455Phe)
c.1415G>T (p.Cys472Phe)
c.428G>T (p.Cys143Phe)
c.*463G>T (n.*463G>T)
n.1389G>T
c.*514G>T (n.*514G>T)
c.1397G>T (p.Cys466Phe)
c.1274G>T (p.Cys425Phe)
c.1220G>T (p.Cys407Phe)
c.1040G>T (p.Cys347Phe)
c.989G>T (p.Cys330Phe)
c.1667G>T (p.Cys556Phe)
c.1316G>T (p.Cys439Phe)
c.1616G>T (p.Cys539Phe)
2g.120978481C>ACA348161476GLI2c.1365C>A (p.Cys455Ter)
c.1416C>A (p.Cys472Ter)
c.429C>A (p.Cys143Ter)
c.*464C>A (n.*464C>A)
n.1390C>A
c.*515C>A (n.*515C>A)
c.1398C>A (p.Cys466Ter)
c.1275C>A (p.Cys425Ter)
c.1221C>A (p.Cys407Ter)
c.1041C>A (p.Cys347Ter)
c.990C>A (p.Cys330Ter)
c.1668C>A (p.Cys556Ter)
c.1317C>A (p.Cys439Ter)
c.1617C>A (p.Cys539Ter)
2g.120978481C>GCA348161477GLI2c.1365C>G (p.Cys455Trp)
c.1416C>G (p.Cys472Trp)
c.429C>G (p.Cys143Trp)
c.*464C>G (n.*464C>G)
n.1390C>G
c.*515C>G (n.*515C>G)
c.1398C>G (p.Cys466Trp)
c.1275C>G (p.Cys425Trp)
c.1221C>G (p.Cys407Trp)
c.1041C>G (p.Cys347Trp)
c.990C>G (p.Cys330Trp)
c.1668C>G (p.Cys556Trp)
c.1317C>G (p.Cys439Trp)
c.1617C>G (p.Cys539Trp)
2g.120978481C>TCA428229922GLI2c.1365C>T (p.Cys455=)
c.1416C>T (p.Cys472=)
c.429C>T (p.Cys143=)
c.*464C>T (n.*464C>T)
n.1390C>T
c.*515C>T (n.*515C>T)
c.1398C>T (p.Cys466=)
c.1275C>T (p.Cys425=)
c.1221C>T (p.Cys407=)
c.1041C>T (p.Cys347=)
c.990C>T (p.Cys330=)
c.1668C>T (p.Cys556=)
c.1317C>T (p.Cys439=)
c.1617C>T (p.Cys539=)
 dbSNP
2g.120978482C>ACA348161478GLI2c.1366C>A (p.Arg456Ser)
c.1417C>A (p.Arg473Ser)
c.430C>A (p.Arg144Ser)
c.*465C>A (n.*465C>A)
n.1391C>A
c.*516C>A (n.*516C>A)
c.1399C>A (p.Arg467Ser)
c.1276C>A (p.Arg426Ser)
c.1222C>A (p.Arg408Ser)
c.1042C>A (p.Arg348Ser)
c.991C>A (p.Arg331Ser)
c.1669C>A (p.Arg557Ser)
c.1318C>A (p.Arg440Ser)
c.1618C>A (p.Arg540Ser)
2g.120978482C=CA1283790662GLI2c.1366C= (p.Arg456=)
c.1417C= (p.Arg473=)
c.430C= (p.Arg144=)
c.*465C= (n.*465C=)
n.1391C=
c.*516C= (n.*516C=)
c.1399C= (p.Arg467=)
c.1276C= (p.Arg426=)
c.1222C= (p.Arg408=)
c.1042C= (p.Arg348=)
c.991C= (p.Arg331=)
c.1669C= (p.Arg557=)
c.1318C= (p.Arg440=)
c.1618C= (p.Arg540=)
2g.120978482C>GCA348161479GLI2c.1366C>G (p.Arg456Gly)
c.1417C>G (p.Arg473Gly)
c.430C>G (p.Arg144Gly)
c.*465C>G (n.*465C>G)
n.1391C>G
c.*516C>G (n.*516C>G)
c.1399C>G (p.Arg467Gly)
c.1276C>G (p.Arg426Gly)
c.1222C>G (p.Arg408Gly)
c.1042C>G (p.Arg348Gly)
c.991C>G (p.Arg331Gly)
c.1669C>G (p.Arg557Gly)
c.1318C>G (p.Arg440Gly)
c.1618C>G (p.Arg540Gly)
 dbSNP
2g.120978482C>TCA1851895GLI2c.1366C>T (p.Arg456Cys)
c.1417C>T (p.Arg473Cys)
c.430C>T (p.Arg144Cys)
c.*465C>T (n.*465C>T)
n.1391C>T
c.*516C>T (n.*516C>T)
c.1399C>T (p.Arg467Cys)
c.1276C>T (p.Arg426Cys)
c.1222C>T (p.Arg408Cys)
c.1042C>T (p.Arg348Cys)
c.991C>T (p.Arg331Cys)
c.1669C>T (p.Arg557Cys)
c.1318C>T (p.Arg440Cys)
c.1618C>T (p.Arg540Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120978483G>ACA1851896GLI2c.1367G>A (p.Arg456His)
c.1418G>A (p.Arg473His)
c.431G>A (p.Arg144His)
c.*466G>A (n.*466G>A)
n.1392G>A
c.*517G>A (n.*517G>A)
c.1400G>A (p.Arg467His)
c.1277G>A (p.Arg426His)
c.1223G>A (p.Arg408His)
c.1043G>A (p.Arg348His)
c.992G>A (p.Arg331His)
c.1670G>A (p.Arg557His)
c.1319G>A (p.Arg440His)
c.1619G>A (p.Arg540His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.120978483G>CCA348161480GLI2c.1367G>C (p.Arg456Pro)
c.1418G>C (p.Arg473Pro)
c.431G>C (p.Arg144Pro)
c.*466G>C (n.*466G>C)
n.1392G>C
c.*517G>C (n.*517G>C)
c.1400G>C (p.Arg467Pro)
c.1277G>C (p.Arg426Pro)
c.1223G>C (p.Arg408Pro)
c.1043G>C (p.Arg348Pro)
c.992G>C (p.Arg331Pro)
c.1670G>C (p.Arg557Pro)
c.1319G>C (p.Arg440Pro)
c.1619G>C (p.Arg540Pro)
2g.120978483G=CA1283790663GLI2c.1367G= (p.Arg456=)
c.1418G= (p.Arg473=)
c.431G= (p.Arg144=)
c.*466G= (n.*466G=)
n.1392G=
c.*517G= (n.*517G=)
c.1400G= (p.Arg467=)
c.1277G= (p.Arg426=)
c.1223G= (p.Arg408=)
c.1043G= (p.Arg348=)
c.992G= (p.Arg331=)
c.1670G= (p.Arg557=)
c.1319G= (p.Arg440=)
c.1619G= (p.Arg540=)
2g.120978483G>TCA1851897GLI2c.1367G>T (p.Arg456Leu)
c.1418G>T (p.Arg473Leu)
c.431G>T (p.Arg144Leu)
c.*466G>T (n.*466G>T)
n.1392G>T
c.*517G>T (n.*517G>T)
c.1400G>T (p.Arg467Leu)
c.1277G>T (p.Arg426Leu)
c.1223G>T (p.Arg408Leu)
c.1043G>T (p.Arg348Leu)
c.992G>T (p.Arg331Leu)
c.1670G>T (p.Arg557Leu)
c.1319G>T (p.Arg440Leu)
c.1619G>T (p.Arg540Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.120978484C>ACA428229923GLI2c.1368C>A (p.Arg456=)
c.1419C>A (p.Arg473=)
c.432C>A (p.Arg144=)
c.*467C>A (n.*467C>A)
n.1393C>A
c.*518C>A (n.*518C>A)
c.1401C>A (p.Arg467=)
c.1278C>A (p.Arg426=)
c.1224C>A (p.Arg408=)
c.1044C>A (p.Arg348=)
c.993C>A (p.Arg331=)
c.1671C>A (p.Arg557=)
c.1320C>A (p.Arg440=)
c.1620C>A (p.Arg540=)
2g.120978484C=CA1283790664GLI2c.1368C= (p.Arg456=)
c.1419C= (p.Arg473=)
c.432C= (p.Arg144=)
c.*467C= (n.*467C=)
n.1393C=
c.*518C= (n.*518C=)
c.1401C= (p.Arg467=)
c.1278C= (p.Arg426=)
c.1224C= (p.Arg408=)
c.1044C= (p.Arg348=)
c.993C= (p.Arg331=)
c.1671C= (p.Arg557=)
c.1320C= (p.Arg440=)
c.1620C= (p.Arg540=)
2g.120978484C>GCA428229924GLI2c.1368C>G (p.Arg456=)
c.1419C>G (p.Arg473=)
c.432C>G (p.Arg144=)
c.*467C>G (n.*467C>G)
n.1393C>G
c.*518C>G (n.*518C>G)
c.1401C>G (p.Arg467=)
c.1278C>G (p.Arg426=)
c.1224C>G (p.Arg408=)
c.1044C>G (p.Arg348=)
c.993C>G (p.Arg331=)
c.1671C>G (p.Arg557=)
c.1320C>G (p.Arg440=)
c.1620C>G (p.Arg540=)
2g.120978484C>TCA1851898GLI2c.1368C>T (p.Arg456=)
c.1419C>T (p.Arg473=)
c.432C>T (p.Arg144=)
c.*467C>T (n.*467C>T)
n.1393C>T
c.*518C>T (n.*518C>T)
c.1401C>T (p.Arg467=)
c.1278C>T (p.Arg426=)
c.1224C>T (p.Arg408=)
c.1044C>T (p.Arg348=)
c.993C>T (p.Arg331=)
c.1671C>T (p.Arg557=)
c.1320C>T (p.Arg440=)
c.1620C>T (p.Arg540=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120978485T>ACA348161481GLI2c.1369T>A (p.Trp457Arg)
c.1420T>A (p.Trp474Arg)
c.433T>A (p.Trp145Arg)
c.*468T>A (n.*468T>A)
n.1394T>A
c.*519T>A (n.*519T>A)
c.1402T>A (p.Trp468Arg)
c.1279T>A (p.Trp427Arg)
c.1225T>A (p.Trp409Arg)
c.1045T>A (p.Trp349Arg)
c.994T>A (p.Trp332Arg)
c.1672T>A (p.Trp558Arg)
c.1321T>A (p.Trp441Arg)
c.1621T>A (p.Trp541Arg)
2g.120978485T>CCA348161482GLI2c.1369T>C (p.Trp457Arg)
c.1420T>C (p.Trp474Arg)
c.433T>C (p.Trp145Arg)
c.*468T>C (n.*468T>C)
n.1394T>C
c.*519T>C (n.*519T>C)
c.1402T>C (p.Trp468Arg)
c.1279T>C (p.Trp427Arg)
c.1225T>C (p.Trp409Arg)
c.1045T>C (p.Trp349Arg)
c.994T>C (p.Trp332Arg)
c.1672T>C (p.Trp558Arg)
c.1321T>C (p.Trp441Arg)
c.1621T>C (p.Trp541Arg)
2g.120978485T>GCA348161483GLI2c.1369T>G (p.Trp457Gly)
c.1420T>G (p.Trp474Gly)
c.433T>G (p.Trp145Gly)
c.*468T>G (n.*468T>G)
n.1394T>G
c.*519T>G (n.*519T>G)
c.1402T>G (p.Trp468Gly)
c.1279T>G (p.Trp427Gly)
c.1225T>G (p.Trp409Gly)
c.1045T>G (p.Trp349Gly)
c.994T>G (p.Trp332Gly)
c.1672T>G (p.Trp558Gly)
c.1321T>G (p.Trp441Gly)
c.1621T>G (p.Trp541Gly)
 COSMIC
2g.120978486G>ACA348161484GLI2c.1370G>A (p.Trp457Ter)
c.1421G>A (p.Trp474Ter)
c.434G>A (p.Trp145Ter)
c.*469G>A (n.*469G>A)
n.1395G>A
c.*520G>A (n.*520G>A)
c.1403G>A (p.Trp468Ter)
c.1280G>A (p.Trp427Ter)
c.1226G>A (p.Trp409Ter)
c.1046G>A (p.Trp349Ter)
c.995G>A (p.Trp332Ter)
c.1673G>A (p.Trp558Ter)
c.1322G>A (p.Trp441Ter)
c.1622G>A (p.Trp541Ter)
 ClinVar dbSNP
2g.120978486G>CCA348161485GLI2c.1370G>C (p.Trp457Ser)
c.1421G>C (p.Trp474Ser)
c.434G>C (p.Trp145Ser)
c.*469G>C (n.*469G>C)
n.1395G>C
c.*520G>C (n.*520G>C)
c.1403G>C (p.Trp468Ser)
c.1280G>C (p.Trp427Ser)
c.1226G>C (p.Trp409Ser)
c.1046G>C (p.Trp349Ser)
c.995G>C (p.Trp332Ser)
c.1673G>C (p.Trp558Ser)
c.1322G>C (p.Trp441Ser)
c.1622G>C (p.Trp541Ser)
2g.120978486G=CA1283790665GLI2c.1370G= (p.Trp457=)
c.1421G= (p.Trp474=)
c.434G= (p.Trp145=)
c.*469G= (n.*469G=)
n.1395G=
c.*520G= (n.*520G=)
c.1403G= (p.Trp468=)
c.1280G= (p.Trp427=)
c.1226G= (p.Trp409=)
c.1046G= (p.Trp349=)
c.995G= (p.Trp332=)
c.1673G= (p.Trp558=)
c.1322G= (p.Trp441=)
c.1622G= (p.Trp541=)
2g.120978486G>TCA348161486GLI2c.1370G>T (p.Trp457Leu)
c.1421G>T (p.Trp474Leu)
c.434G>T (p.Trp145Leu)
c.*469G>T (n.*469G>T)
n.1395G>T
c.*520G>T (n.*520G>T)
c.1403G>T (p.Trp468Leu)
c.1280G>T (p.Trp427Leu)
c.1226G>T (p.Trp409Leu)
c.1046G>T (p.Trp349Leu)
c.995G>T (p.Trp332Leu)
c.1673G>T (p.Trp558Leu)
c.1322G>T (p.Trp441Leu)
c.1622G>T (p.Trp541Leu)
 COSMIC
2g.120978487G>ACA348161489GLI2c.1371G>A (p.Trp457Ter)
c.1422G>A (p.Trp474Ter)
c.435G>A (p.Trp145Ter)
c.*470G>A (n.*470G>A)
n.1396G>A
c.*521G>A (n.*521G>A)
c.1404G>A (p.Trp468Ter)
c.1281G>A (p.Trp427Ter)
c.1227G>A (p.Trp409Ter)
c.1047G>A (p.Trp349Ter)
c.996G>A (p.Trp332Ter)
c.1674G>A (p.Trp558Ter)
c.1323G>A (p.Trp441Ter)
c.1623G>A (p.Trp541Ter)
2g.120978487G>CCA348161488GLI2c.1371G>C (p.Trp457Cys)
c.1422G>C (p.Trp474Cys)
c.435G>C (p.Trp145Cys)
c.*470G>C (n.*470G>C)
n.1396G>C
c.*521G>C (n.*521G>C)
c.1404G>C (p.Trp468Cys)
c.1281G>C (p.Trp427Cys)
c.1227G>C (p.Trp409Cys)
c.1047G>C (p.Trp349Cys)
c.996G>C (p.Trp332Cys)
c.1674G>C (p.Trp558Cys)
c.1323G>C (p.Trp441Cys)
c.1623G>C (p.Trp541Cys)
2g.120978487G>TCA348161487GLI2c.1371G>T (p.Trp457Cys)
c.1422G>T (p.Trp474Cys)
c.435G>T (p.Trp145Cys)
c.*470G>T (n.*470G>T)
n.1396G>T
c.*521G>T (n.*521G>T)
c.1404G>T (p.Trp468Cys)
c.1281G>T (p.Trp427Cys)
c.1227G>T (p.Trp409Cys)
c.1047G>T (p.Trp349Cys)
c.996G>T (p.Trp332Cys)
c.1674G>T (p.Trp558Cys)
c.1323G>T (p.Trp441Cys)
c.1623G>T (p.Trp541Cys)
2g.120978488C>ACA348161490GLI2c.1372C>A (p.Gln458Lys)
c.1423C>A (p.Gln475Lys)
c.436C>A (p.Gln146Lys)
c.*471C>A (n.*471C>A)
n.1397C>A
c.*522C>A (n.*522C>A)
c.1405C>A (p.Gln469Lys)
c.1282C>A (p.Gln428Lys)
c.1228C>A (p.Gln410Lys)
c.1048C>A (p.Gln350Lys)
c.997C>A (p.Gln333Lys)
c.1675C>A (p.Gln559Lys)
c.1324C>A (p.Gln442Lys)
c.1624C>A (p.Gln542Lys)
 dbSNP
2g.120978488C>GCA348161492GLI2c.1372C>G (p.Gln458Glu)
c.1423C>G (p.Gln475Glu)
c.436C>G (p.Gln146Glu)
c.*471C>G (n.*471C>G)
n.1397C>G
c.*522C>G (n.*522C>G)
c.1405C>G (p.Gln469Glu)
c.1282C>G (p.Gln428Glu)
c.1228C>G (p.Gln410Glu)
c.1048C>G (p.Gln350Glu)
c.997C>G (p.Gln333Glu)
c.1675C>G (p.Gln559Glu)
c.1324C>G (p.Gln442Glu)
c.1624C>G (p.Gln542Glu)
2g.120978488C>TCA348161491GLI2c.1372C>T (p.Gln458Ter)
c.1423C>T (p.Gln475Ter)
c.436C>T (p.Gln146Ter)
c.*471C>T (n.*471C>T)
n.1397C>T
c.*522C>T (n.*522C>T)
c.1405C>T (p.Gln469Ter)
c.1282C>T (p.Gln428Ter)
c.1228C>T (p.Gln410Ter)
c.1048C>T (p.Gln350Ter)
c.997C>T (p.Gln333Ter)
c.1675C>T (p.Gln559Ter)
c.1324C>T (p.Gln442Ter)
c.1624C>T (p.Gln542Ter)
 dbSNP
2g.120978489A=CA1283790666GLI2c.1373A= (p.Gln458=)
c.1424A= (p.Gln475=)
c.437A= (p.Gln146=)
c.*472A= (n.*472A=)
n.1398A=
c.*523A= (n.*523A=)
c.1406A= (p.Gln469=)
c.1283A= (p.Gln428=)
c.1229A= (p.Gln410=)
c.1049A= (p.Gln350=)
c.998A= (p.Gln333=)
c.1676A= (p.Gln559=)
c.1325A= (p.Gln442=)
c.1625A= (p.Gln542=)
2g.120978489A>CCA348161493GLI2c.1373A>C (p.Gln458Pro)
c.1424A>C (p.Gln475Pro)
c.437A>C (p.Gln146Pro)
c.*472A>C (n.*472A>C)
n.1398A>C
c.*523A>C (n.*523A>C)
c.1406A>C (p.Gln469Pro)
c.1283A>C (p.Gln428Pro)
c.1229A>C (p.Gln410Pro)
c.1049A>C (p.Gln350Pro)
c.998A>C (p.Gln333Pro)
c.1676A>C (p.Gln559Pro)
c.1325A>C (p.Gln442Pro)
c.1625A>C (p.Gln542Pro)
2g.120978489A>GCA348161494GLI2c.1373A>G (p.Gln458Arg)
c.1424A>G (p.Gln475Arg)
c.437A>G (p.Gln146Arg)
c.*472A>G (n.*472A>G)
n.1398A>G
c.*523A>G (n.*523A>G)
c.1406A>G (p.Gln469Arg)
c.1283A>G (p.Gln428Arg)
c.1229A>G (p.Gln410Arg)
c.1049A>G (p.Gln350Arg)
c.998A>G (p.Gln333Arg)
c.1676A>G (p.Gln559Arg)
c.1325A>G (p.Gln442Arg)
c.1625A>G (p.Gln542Arg)
 ClinVar dbSNP
2g.120978489A>TCA348161495GLI2c.1373A>T (p.Gln458Leu)
c.1424A>T (p.Gln475Leu)
c.437A>T (p.Gln146Leu)
c.*472A>T (n.*472A>T)
n.1398A>T
c.*523A>T (n.*523A>T)
c.1406A>T (p.Gln469Leu)
c.1283A>T (p.Gln428Leu)
c.1229A>T (p.Gln410Leu)
c.1049A>T (p.Gln350Leu)
c.998A>T (p.Gln333Leu)
c.1676A>T (p.Gln559Leu)
c.1325A>T (p.Gln442Leu)
c.1625A>T (p.Gln542Leu)
 COSMIC
2g.120978490G>ACA428229925GLI2c.1374G>A (p.Gln458=)
c.1425G>A (p.Gln475=)
c.438G>A (p.Gln146=)
c.*473G>A (n.*473G>A)
n.1399G>A
c.*524G>A (n.*524G>A)
c.1407G>A (p.Gln469=)
c.1284G>A (p.Gln428=)
c.1230G>A (p.Gln410=)
c.1050G>A (p.Gln350=)
c.999G>A (p.Gln333=)
c.1677G>A (p.Gln559=)
c.1326G>A (p.Gln442=)
c.1626G>A (p.Gln542=)
 dbSNP
2g.120978490G>CCA348161496GLI2c.1374G>C (p.Gln458His)
c.1425G>C (p.Gln475His)
c.438G>C (p.Gln146His)
c.*473G>C (n.*473G>C)
n.1399G>C
c.*524G>C (n.*524G>C)
c.1407G>C (p.Gln469His)
c.1284G>C (p.Gln428His)
c.1230G>C (p.Gln410His)
c.1050G>C (p.Gln350His)
c.999G>C (p.Gln333His)
c.1677G>C (p.Gln559His)
c.1326G>C (p.Gln442His)
c.1626G>C (p.Gln542His)
2g.120978490G>TCA348161497GLI2c.1374G>T (p.Gln458His)
c.1425G>T (p.Gln475His)
c.438G>T (p.Gln146His)
c.*473G>T (n.*473G>T)
n.1399G>T
c.*524G>T (n.*524G>T)
c.1407G>T (p.Gln469His)
c.1284G>T (p.Gln428His)
c.1230G>T (p.Gln410His)
c.1050G>T (p.Gln350His)
c.999G>T (p.Gln333His)
c.1677G>T (p.Gln559His)
c.1326G>T (p.Gln442His)
c.1626G>T (p.Gln542His)
2g.120978491G>ACA348161498GLI2c.1375G>A (p.Ala459Thr)
c.1426G>A (p.Ala476Thr)
c.439G>A (p.Ala147Thr)
c.*474G>A (n.*474G>A)
n.1400G>A
c.*525G>A (n.*525G>A)
c.1408G>A (p.Ala470Thr)
c.1285G>A (p.Ala429Thr)
c.1231G>A (p.Ala411Thr)
c.1051G>A (p.Ala351Thr)
c.1000G>A (p.Ala334Thr)
c.1678G>A (p.Ala560Thr)
c.1327G>A (p.Ala443Thr)
c.1627G>A (p.Ala543Thr)
 dbSNP gnomAD v4
2g.120978491G>CCA348161499GLI2c.1375G>C (p.Ala459Pro)
c.1426G>C (p.Ala476Pro)
c.439G>C (p.Ala147Pro)
c.*474G>C (n.*474G>C)
n.1400G>C
c.*525G>C (n.*525G>C)
c.1408G>C (p.Ala470Pro)
c.1285G>C (p.Ala429Pro)
c.1231G>C (p.Ala411Pro)
c.1051G>C (p.Ala351Pro)
c.1000G>C (p.Ala334Pro)
c.1678G>C (p.Ala560Pro)
c.1327G>C (p.Ala443Pro)
c.1627G>C (p.Ala543Pro)
 ClinVar dbSNP
2g.120978491G=CA1283790667GLI2c.1375G= (p.Ala459=)
c.1426G= (p.Ala476=)
c.439G= (p.Ala147=)
c.*474G= (n.*474G=)
n.1400G=
c.*525G= (n.*525G=)
c.1408G= (p.Ala470=)
c.1285G= (p.Ala429=)
c.1231G= (p.Ala411=)
c.1051G= (p.Ala351=)
c.1000G= (p.Ala334=)
c.1678G= (p.Ala560=)
c.1327G= (p.Ala443=)
c.1627G= (p.Ala543=)
2g.120978491G>TCA1851899GLI2c.1375G>T (p.Ala459Ser)
c.1426G>T (p.Ala476Ser)
c.439G>T (p.Ala147Ser)
c.*474G>T (n.*474G>T)
n.1400G>T
c.*525G>T (n.*525G>T)
c.1408G>T (p.Ala470Ser)
c.1285G>T (p.Ala429Ser)
c.1231G>T (p.Ala411Ser)
c.1051G>T (p.Ala351Ser)
c.1000G>T (p.Ala334Ser)
c.1678G>T (p.Ala560Ser)
c.1327G>T (p.Ala443Ser)
c.1627G>T (p.Ala543Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120978492C>ACA348161500GLI2c.1376C>A (p.Ala459Asp)
c.1427C>A (p.Ala476Asp)
c.440C>A (p.Ala147Asp)
c.*475C>A (n.*475C>A)
n.1401C>A
c.*526C>A (n.*526C>A)
c.1409C>A (p.Ala470Asp)
c.1286C>A (p.Ala429Asp)
c.1232C>A (p.Ala411Asp)
c.1052C>A (p.Ala351Asp)
c.1001C>A (p.Ala334Asp)
c.1679C>A (p.Ala560Asp)
c.1328C>A (p.Ala443Asp)
c.1628C>A (p.Ala543Asp)
2g.120978492C>GCA348161501GLI2c.1376C>G (p.Ala459Gly)
c.1427C>G (p.Ala476Gly)
c.440C>G (p.Ala147Gly)
c.*475C>G (n.*475C>G)
n.1401C>G
c.*526C>G (n.*526C>G)
c.1409C>G (p.Ala470Gly)
c.1286C>G (p.Ala429Gly)
c.1232C>G (p.Ala411Gly)
c.1052C>G (p.Ala351Gly)
c.1001C>G (p.Ala334Gly)
c.1679C>G (p.Ala560Gly)
c.1328C>G (p.Ala443Gly)
c.1628C>G (p.Ala543Gly)
 dbSNP gnomAD v4
2g.120978492C>TCA348161502GLI2c.1376C>T (p.Ala459Val)
c.1427C>T (p.Ala476Val)
c.440C>T (p.Ala147Val)
c.*475C>T (n.*475C>T)
n.1401C>T
c.*526C>T (n.*526C>T)
c.1409C>T (p.Ala470Val)
c.1286C>T (p.Ala429Val)
c.1232C>T (p.Ala411Val)
c.1052C>T (p.Ala351Val)
c.1001C>T (p.Ala334Val)
c.1679C>T (p.Ala560Val)
c.1328C>T (p.Ala443Val)
c.1628C>T (p.Ala543Val)
 dbSNP
2g.120978493C>ACA428229926GLI2c.1377C>A (p.Ala459=)
c.1428C>A (p.Ala476=)
c.441C>A (p.Ala147=)
c.*476C>A (n.*476C>A)
n.1402C>A
c.*527C>A (n.*527C>A)
c.1410C>A (p.Ala470=)
c.1287C>A (p.Ala429=)
c.1233C>A (p.Ala411=)
c.1053C>A (p.Ala351=)
c.1002C>A (p.Ala334=)
c.1680C>A (p.Ala560=)
c.1329C>A (p.Ala443=)
c.1629C>A (p.Ala543=)
2g.120978493C=CA1283790668GLI2c.1377C= (p.Ala459=)
c.1428C= (p.Ala476=)
c.441C= (p.Ala147=)
c.*476C= (n.*476C=)
n.1402C=
c.*527C= (n.*527C=)
c.1410C= (p.Ala470=)
c.1287C= (p.Ala429=)
c.1233C= (p.Ala411=)
c.1053C= (p.Ala351=)
c.1002C= (p.Ala334=)
c.1680C= (p.Ala560=)
c.1329C= (p.Ala443=)
c.1629C= (p.Ala543=)
2g.120978493C>GCA428229927GLI2c.1377C>G (p.Ala459=)
c.1428C>G (p.Ala476=)
c.441C>G (p.Ala147=)
c.*476C>G (n.*476C>G)
n.1402C>G
c.*527C>G (n.*527C>G)
c.1410C>G (p.Ala470=)
c.1287C>G (p.Ala429=)
c.1233C>G (p.Ala411=)
c.1053C>G (p.Ala351=)
c.1002C>G (p.Ala334=)
c.1680C>G (p.Ala560=)
c.1329C>G (p.Ala443=)
c.1629C>G (p.Ala543=)
2g.120978493C>TCA1851900GLI2c.1377C>T (p.Ala459=)
c.1428C>T (p.Ala476=)
c.441C>T (p.Ala147=)
c.*476C>T (n.*476C>T)
n.1402C>T
c.*527C>T (n.*527C>T)
c.1410C>T (p.Ala470=)
c.1287C>T (p.Ala429=)
c.1233C>T (p.Ala411=)
c.1053C>T (p.Ala351=)
c.1002C>T (p.Ala334=)
c.1680C>T (p.Ala560=)
c.1329C>T (p.Ala443=)
c.1629C>T (p.Ala543=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120978494T>ACA348161505GLI2c.1378T>A (p.Cys460Ser)
c.1429T>A (p.Cys477Ser)
c.442T>A (p.Cys148Ser)
c.*477T>A (n.*477T>A)
n.1403T>A
c.*528T>A (n.*528T>A)
c.1411T>A (p.Cys471Ser)
c.1288T>A (p.Cys430Ser)
c.1234T>A (p.Cys412Ser)
c.1054T>A (p.Cys352Ser)
c.1003T>A (p.Cys335Ser)
c.1681T>A (p.Cys561Ser)
c.1330T>A (p.Cys444Ser)
c.1630T>A (p.Cys544Ser)
2g.120978494T>CCA348161503GLI2c.1378T>C (p.Cys460Arg)
c.1429T>C (p.Cys477Arg)
c.442T>C (p.Cys148Arg)
c.*477T>C (n.*477T>C)
n.1403T>C
c.*528T>C (n.*528T>C)
c.1411T>C (p.Cys471Arg)
c.1288T>C (p.Cys430Arg)
c.1234T>C (p.Cys412Arg)
c.1054T>C (p.Cys352Arg)
c.1003T>C (p.Cys335Arg)
c.1681T>C (p.Cys561Arg)
c.1330T>C (p.Cys444Arg)
c.1630T>C (p.Cys544Arg)
 gnomAD v4
2g.120978494T>GCA348161504GLI2c.1378T>G (p.Cys460Gly)
c.1429T>G (p.Cys477Gly)
c.442T>G (p.Cys148Gly)
c.*477T>G (n.*477T>G)
n.1403T>G
c.*528T>G (n.*528T>G)
c.1411T>G (p.Cys471Gly)
c.1288T>G (p.Cys430Gly)
c.1234T>G (p.Cys412Gly)
c.1054T>G (p.Cys352Gly)
c.1003T>G (p.Cys335Gly)
c.1681T>G (p.Cys561Gly)
c.1330T>G (p.Cys444Gly)
c.1630T>G (p.Cys544Gly)
2g.120978495G>ACA348161506GLI2c.1379G>A (p.Cys460Tyr)
c.1430G>A (p.Cys477Tyr)
c.443G>A (p.Cys148Tyr)
c.*478G>A (n.*478G>A)
n.1404G>A
c.*529G>A (n.*529G>A)
c.1412G>A (p.Cys471Tyr)
c.1289G>A (p.Cys430Tyr)
c.1235G>A (p.Cys412Tyr)
c.1055G>A (p.Cys352Tyr)
c.1004G>A (p.Cys335Tyr)
c.1682G>A (p.Cys561Tyr)
c.1331G>A (p.Cys444Tyr)
c.1631G>A (p.Cys544Tyr)
 dbSNP
2g.120978495G>CCA348161507GLI2c.1379G>C (p.Cys460Ser)
c.1430G>C (p.Cys477Ser)
c.443G>C (p.Cys148Ser)
c.*478G>C (n.*478G>C)
n.1404G>C
c.*529G>C (n.*529G>C)
c.1412G>C (p.Cys471Ser)
c.1289G>C (p.Cys430Ser)
c.1235G>C (p.Cys412Ser)
c.1055G>C (p.Cys352Ser)
c.1004G>C (p.Cys335Ser)
c.1682G>C (p.Cys561Ser)
c.1331G>C (p.Cys444Ser)
c.1631G>C (p.Cys544Ser)
2g.120978495G>TCA348161508GLI2c.1379G>T (p.Cys460Phe)
c.1430G>T (p.Cys477Phe)
c.443G>T (p.Cys148Phe)
c.*478G>T (n.*478G>T)
n.1404G>T
c.*529G>T (n.*529G>T)
c.1412G>T (p.Cys471Phe)
c.1289G>T (p.Cys430Phe)
c.1235G>T (p.Cys412Phe)
c.1055G>T (p.Cys352Phe)
c.1004G>T (p.Cys335Phe)
c.1682G>T (p.Cys561Phe)
c.1331G>T (p.Cys444Phe)
c.1631G>T (p.Cys544Phe)
2g.120978495_120978496insTTCA2532147629GLI2c.1379_1380insTT (p.Thr461SerfsTer?)
c.1430_1431insTT (p.Thr478SerfsTer?)
c.443_444insTT (p.Thr149SerfsTer?)
c.*478_*479insTT (n.*478_*479insTT)
n.1404_1405insTT
c.*529_*530insTT (n.*529_*530insTT)
c.1412_1413insTT (p.Thr472SerfsTer?)
c.1289_1290insTT (p.Thr431SerfsTer?)
c.1235_1236insTT (p.Thr413SerfsTer?)
c.1055_1056insTT (p.Thr353SerfsTer?)
c.1004_1005insTT (p.Thr336SerfsTer?)
c.1682_1683insTT (p.Thr562SerfsTer?)
c.1331_1332insTT (p.Thr445SerfsTer?)
c.1631_1632insTT (p.Thr545SerfsTer?)
2g.120978496C>ACA348161509GLI2c.1380C>A (p.Cys460Ter)
c.1431C>A (p.Cys477Ter)
c.444C>A (p.Cys148Ter)
c.*479C>A (n.*479C>A)
n.1405C>A
c.*530C>A (n.*530C>A)
c.1413C>A (p.Cys471Ter)
c.1290C>A (p.Cys430Ter)
c.1236C>A (p.Cys412Ter)
c.1056C>A (p.Cys352Ter)
c.1005C>A (p.Cys335Ter)
c.1683C>A (p.Cys561Ter)
c.1332C>A (p.Cys444Ter)
c.1632C>A (p.Cys544Ter)
2g.120978496C>GCA348161510GLI2c.1380C>G (p.Cys460Trp)
c.1431C>G (p.Cys477Trp)
c.444C>G (p.Cys148Trp)
c.*479C>G (n.*479C>G)
n.1405C>G
c.*530C>G (n.*530C>G)
c.1413C>G (p.Cys471Trp)
c.1290C>G (p.Cys430Trp)
c.1236C>G (p.Cys412Trp)
c.1056C>G (p.Cys352Trp)
c.1005C>G (p.Cys335Trp)
c.1683C>G (p.Cys561Trp)
c.1332C>G (p.Cys444Trp)
c.1632C>G (p.Cys544Trp)
2g.120978496C>TCA428229928GLI2c.1380C>T (p.Cys460=)
c.1431C>T (p.Cys477=)
c.444C>T (p.Cys148=)
c.*479C>T (n.*479C>T)
n.1405C>T
c.*530C>T (n.*530C>T)
c.1413C>T (p.Cys471=)
c.1290C>T (p.Cys430=)
c.1236C>T (p.Cys412=)
c.1056C>T (p.Cys352=)
c.1005C>T (p.Cys335=)
c.1683C>T (p.Cys561=)
c.1332C>T (p.Cys444=)
c.1632C>T (p.Cys544=)
 dbSNP gnomAD v4
2g.120978497A>CCA348161511GLI2c.1381A>C (p.Thr461Pro)
c.1432A>C (p.Thr478Pro)
c.445A>C (p.Thr149Pro)
c.*480A>C (n.*480A>C)
n.1406A>C
c.*531A>C (n.*531A>C)
c.1414A>C (p.Thr472Pro)
c.1291A>C (p.Thr431Pro)
c.1237A>C (p.Thr413Pro)
c.1057A>C (p.Thr353Pro)
c.1006A>C (p.Thr336Pro)
c.1684A>C (p.Thr562Pro)
c.1333A>C (p.Thr445Pro)
c.1633A>C (p.Thr545Pro)
2g.120978497A>GCA348161512GLI2c.1381A>G (p.Thr461Ala)
c.1432A>G (p.Thr478Ala)
c.445A>G (p.Thr149Ala)
c.*480A>G (n.*480A>G)
n.1406A>G
c.*531A>G (n.*531A>G)
c.1414A>G (p.Thr472Ala)
c.1291A>G (p.Thr431Ala)
c.1237A>G (p.Thr413Ala)
c.1057A>G (p.Thr353Ala)
c.1006A>G (p.Thr336Ala)
c.1684A>G (p.Thr562Ala)
c.1333A>G (p.Thr445Ala)
c.1633A>G (p.Thr545Ala)
 COSMIC
2g.120978497A>TCA348161513GLI2c.1381A>T (p.Thr461Ser)
c.1432A>T (p.Thr478Ser)
c.445A>T (p.Thr149Ser)
c.*480A>T (n.*480A>T)
n.1406A>T
c.*531A>T (n.*531A>T)
c.1414A>T (p.Thr472Ser)
c.1291A>T (p.Thr431Ser)
c.1237A>T (p.Thr413Ser)
c.1057A>T (p.Thr353Ser)
c.1006A>T (p.Thr336Ser)
c.1684A>T (p.Thr562Ser)
c.1333A>T (p.Thr445Ser)
c.1633A>T (p.Thr545Ser)
2g.120978498C>ACA348161514GLI2c.1382C>A (p.Thr461Lys)
c.1433C>A (p.Thr478Lys)
c.446C>A (p.Thr149Lys)
c.*481C>A (n.*481C>A)
n.1407C>A
c.*532C>A (n.*532C>A)
c.1415C>A (p.Thr472Lys)
c.1292C>A (p.Thr431Lys)
c.1238C>A (p.Thr413Lys)
c.1058C>A (p.Thr353Lys)
c.1007C>A (p.Thr336Lys)
c.1685C>A (p.Thr562Lys)
c.1334C>A (p.Thr445Lys)
c.1634C>A (p.Thr545Lys)
2g.120978498C=CA1283790669GLI2c.1382C= (p.Thr461=)
c.1433C= (p.Thr478=)
c.446C= (p.Thr149=)
c.*481C= (n.*481C=)
n.1407C=
c.*532C= (n.*532C=)
c.1415C= (p.Thr472=)
c.1292C= (p.Thr431=)
c.1238C= (p.Thr413=)
c.1058C= (p.Thr353=)
c.1007C= (p.Thr336=)
c.1685C= (p.Thr562=)
c.1334C= (p.Thr445=)
c.1634C= (p.Thr545=)
2g.120978498C>GCA348161515GLI2c.1382C>G (p.Thr461Arg)
c.1433C>G (p.Thr478Arg)
c.446C>G (p.Thr149Arg)
c.*481C>G (n.*481C>G)
n.1407C>G
c.*532C>G (n.*532C>G)
c.1415C>G (p.Thr472Arg)
c.1292C>G (p.Thr431Arg)
c.1238C>G (p.Thr413Arg)
c.1058C>G (p.Thr353Arg)
c.1007C>G (p.Thr336Arg)
c.1685C>G (p.Thr562Arg)
c.1334C>G (p.Thr445Arg)
c.1634C>G (p.Thr545Arg)
2g.120978498C>TCA1851901GLI2c.1382C>T (p.Thr461Met)
c.1433C>T (p.Thr478Met)
c.446C>T (p.Thr149Met)
c.*481C>T (n.*481C>T)
n.1407C>T
c.*532C>T (n.*532C>T)
c.1415C>T (p.Thr472Met)
c.1292C>T (p.Thr431Met)
c.1238C>T (p.Thr413Met)
c.1058C>T (p.Thr353Met)
c.1007C>T (p.Thr336Met)
c.1685C>T (p.Thr562Met)
c.1334C>T (p.Thr445Met)
c.1634C>T (p.Thr545Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120978499G>ACA1851902GLI2c.1383G>A (p.Thr461=)
c.1434G>A (p.Thr478=)
c.447G>A (p.Thr149=)
c.*482G>A (n.*482G>A)
n.1408G>A
c.*533G>A (n.*533G>A)
c.1416G>A (p.Thr472=)
c.1293G>A (p.Thr431=)
c.1239G>A (p.Thr413=)
c.1059G>A (p.Thr353=)
c.1008G>A (p.Thr336=)
c.1686G>A (p.Thr562=)
c.1335G>A (p.Thr445=)
c.1635G>A (p.Thr545=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120978499G>CCA428229929GLI2c.1383G>C (p.Thr461=)
c.1434G>C (p.Thr478=)
c.447G>C (p.Thr149=)
c.*482G>C (n.*482G>C)
n.1408G>C
c.*533G>C (n.*533G>C)
c.1416G>C (p.Thr472=)
c.1293G>C (p.Thr431=)
c.1239G>C (p.Thr413=)
c.1059G>C (p.Thr353=)
c.1008G>C (p.Thr336=)
c.1686G>C (p.Thr562=)
c.1335G>C (p.Thr445=)
c.1635G>C (p.Thr545=)
2g.120978499G=CA1283790670GLI2c.1383G= (p.Thr461=)
c.1434G= (p.Thr478=)
c.447G= (p.Thr149=)
c.*482G= (n.*482G=)
n.1408G=
c.*533G= (n.*533G=)
c.1416G= (p.Thr472=)
c.1293G= (p.Thr431=)
c.1239G= (p.Thr413=)
c.1059G= (p.Thr353=)
c.1008G= (p.Thr336=)
c.1686G= (p.Thr562=)
c.1335G= (p.Thr445=)
c.1635G= (p.Thr545=)
2g.120978499G>TCA428229930GLI2c.1383G>T (p.Thr461=)
c.1434G>T (p.Thr478=)
c.447G>T (p.Thr149=)
c.*482G>T (n.*482G>T)
n.1408G>T
c.*533G>T (n.*533G>T)
c.1416G>T (p.Thr472=)
c.1293G>T (p.Thr431=)
c.1239G>T (p.Thr413=)
c.1059G>T (p.Thr353=)
c.1008G>T (p.Thr336=)
c.1686G>T (p.Thr562=)
c.1335G>T (p.Thr445=)
c.1635G>T (p.Thr545=)
2g.120978500C>ACA428229931GLI2c.1384C>A (p.Arg462=)
c.1435C>A (p.Arg479=)
c.448C>A (p.Arg150=)
c.*483C>A (n.*483C>A)
n.1409C>A
c.*534C>A (n.*534C>A)
c.1417C>A (p.Arg473=)
c.1294C>A (p.Arg432=)
c.1240C>A (p.Arg414=)
c.1060C>A (p.Arg354=)
c.1009C>A (p.Arg337=)
c.1687C>A (p.Arg563=)
c.1336C>A (p.Arg446=)
c.1636C>A (p.Arg546=)
2g.120978500C=CA1283790671GLI2c.1384C= (p.Arg462=)
c.1435C= (p.Arg479=)
c.448C= (p.Arg150=)
c.*483C= (n.*483C=)
n.1409C=
c.*534C= (n.*534C=)
c.1417C= (p.Arg473=)
c.1294C= (p.Arg432=)
c.1240C= (p.Arg414=)
c.1060C= (p.Arg354=)
c.1009C= (p.Arg337=)
c.1687C= (p.Arg563=)
c.1336C= (p.Arg446=)
c.1636C= (p.Arg546=)
2g.120978500C>GCA256990GLI2c.1384C>G (p.Arg462Gly)
c.1435C>G (p.Arg479Gly)
c.448C>G (p.Arg150Gly)
c.*483C>G (n.*483C>G)
n.1409C>G
c.*534C>G (n.*534C>G)
c.1417C>G (p.Arg473Gly)
c.1294C>G (p.Arg432Gly)
c.1240C>G (p.Arg414Gly)
c.1060C>G (p.Arg354Gly)
c.1009C>G (p.Arg337Gly)
c.1687C>G (p.Arg563Gly)
c.1336C>G (p.Arg446Gly)
c.1636C>G (p.Arg546Gly)
 ClinVar dbSNP
2g.120978500C>TCA1851903GLI2c.1384C>T (p.Arg462Trp)
c.1435C>T (p.Arg479Trp)
c.448C>T (p.Arg150Trp)
c.*483C>T (n.*483C>T)
n.1409C>T
c.*534C>T (n.*534C>T)
c.1417C>T (p.Arg473Trp)
c.1294C>T (p.Arg432Trp)
c.1240C>T (p.Arg414Trp)
c.1060C>T (p.Arg354Trp)
c.1009C>T (p.Arg337Trp)
c.1687C>T (p.Arg563Trp)
c.1336C>T (p.Arg446Trp)
c.1636C>T (p.Arg546Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120978501G>ACA1851904GLI2c.1385G>A (p.Arg462Gln)
c.1436G>A (p.Arg479Gln)
c.449G>A (p.Arg150Gln)
c.*484G>A (n.*484G>A)
n.1410G>A
c.*535G>A (n.*535G>A)
c.1418G>A (p.Arg473Gln)
c.1295G>A (p.Arg432Gln)
c.1241G>A (p.Arg414Gln)
c.1061G>A (p.Arg354Gln)
c.1010G>A (p.Arg337Gln)
c.1688G>A (p.Arg563Gln)
c.1337G>A (p.Arg446Gln)
c.1637G>A (p.Arg546Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.120978501G>CCA348161516GLI2c.1385G>C (p.Arg462Pro)
c.1436G>C (p.Arg479Pro)
c.449G>C (p.Arg150Pro)
c.*484G>C (n.*484G>C)
n.1410G>C
c.*535G>C (n.*535G>C)
c.1418G>C (p.Arg473Pro)
c.1295G>C (p.Arg432Pro)
c.1241G>C (p.Arg414Pro)
c.1061G>C (p.Arg354Pro)
c.1010G>C (p.Arg337Pro)
c.1688G>C (p.Arg563Pro)
c.1337G>C (p.Arg446Pro)
c.1637G>C (p.Arg546Pro)
2g.120978501G=CA1283790672GLI2c.1385G= (p.Arg462=)
c.1436G= (p.Arg479=)
c.449G= (p.Arg150=)
c.*484G= (n.*484G=)
n.1410G=
c.*535G= (n.*535G=)
c.1418G= (p.Arg473=)
c.1295G= (p.Arg432=)
c.1241G= (p.Arg414=)
c.1061G= (p.Arg354=)
c.1010G= (p.Arg337=)
c.1688G= (p.Arg563=)
c.1337G= (p.Arg446=)
c.1637G= (p.Arg546=)
2g.120978501G>TCA348161517GLI2c.1385G>T (p.Arg462Leu)
c.1436G>T (p.Arg479Leu)
c.449G>T (p.Arg150Leu)
c.*484G>T (n.*484G>T)
n.1410G>T
c.*535G>T (n.*535G>T)
c.1418G>T (p.Arg473Leu)
c.1295G>T (p.Arg432Leu)
c.1241G>T (p.Arg414Leu)
c.1061G>T (p.Arg354Leu)
c.1010G>T (p.Arg337Leu)
c.1688G>T (p.Arg563Leu)
c.1337G>T (p.Arg446Leu)
c.1637G>T (p.Arg546Leu)
2g.120978502_120978503delCA2751944012GLI2c.1386_1387del (p.Glu463AlafsTer?)
c.1437_1438del (p.Glu480AlafsTer?)
c.450_451del (p.Glu151AlafsTer?)
c.*485_*486del (n.*485_*486del)
n.1411_1412del
c.*536_*537del (n.*536_*537del)
c.1419_1420del (p.Glu474AlafsTer?)
c.1296_1297del (p.Glu433AlafsTer?)
c.1242_1243del (p.Glu415AlafsTer?)
c.1062_1063del (p.Glu355AlafsTer?)
c.1011_1012del (p.Glu338AlafsTer?)
c.1689_1690del (p.Glu564AlafsTer?)
c.1338_1339del (p.Glu447AlafsTer?)
c.1638_1639del (p.Glu547AlafsTer?)
2g.120978502G>ACA428229934GLI2c.1386G>A (p.Arg462=)
c.1437G>A (p.Arg479=)
c.450G>A (p.Arg150=)
c.*485G>A (n.*485G>A)
n.1411G>A
c.*536G>A (n.*536G>A)
c.1419G>A (p.Arg473=)
c.1296G>A (p.Arg432=)
c.1242G>A (p.Arg414=)
c.1062G>A (p.Arg354=)
c.1011G>A (p.Arg337=)
c.1689G>A (p.Arg563=)
c.1338G>A (p.Arg446=)
c.1638G>A (p.Arg546=)
 dbSNP gnomAD v4
2g.120978502G>CCA428229932GLI2c.1386G>C (p.Arg462=)
c.1437G>C (p.Arg479=)
c.450G>C (p.Arg150=)
c.*485G>C (n.*485G>C)
n.1411G>C
c.*536G>C (n.*536G>C)
c.1419G>C (p.Arg473=)
c.1296G>C (p.Arg432=)
c.1242G>C (p.Arg414=)
c.1062G>C (p.Arg354=)
c.1011G>C (p.Arg337=)
c.1689G>C (p.Arg563=)
c.1338G>C (p.Arg446=)
c.1638G>C (p.Arg546=)
2g.120978502G>TCA428229933GLI2c.1386G>T (p.Arg462=)
c.1437G>T (p.Arg479=)
c.450G>T (p.Arg150=)
c.*485G>T (n.*485G>T)
n.1411G>T
c.*536G>T (n.*536G>T)
c.1419G>T (p.Arg473=)
c.1296G>T (p.Arg432=)
c.1242G>T (p.Arg414=)
c.1062G>T (p.Arg354=)
c.1011G>T (p.Arg337=)
c.1689G>T (p.Arg563=)
c.1338G>T (p.Arg446=)
c.1638G>T (p.Arg546=)
2g.120978503G>ACA348161518GLI2c.1387G>A (p.Glu463Lys)
c.1438G>A (p.Glu480Lys)
c.451G>A (p.Glu151Lys)
c.*486G>A (n.*486G>A)
n.1412G>A
c.*537G>A (n.*537G>A)
c.1420G>A (p.Glu474Lys)
c.1297G>A (p.Glu433Lys)
c.1243G>A (p.Glu415Lys)
c.1063G>A (p.Glu355Lys)
c.1012G>A (p.Glu338Lys)
c.1690G>A (p.Glu564Lys)
c.1339G>A (p.Glu447Lys)
c.1639G>A (p.Glu547Lys)
 dbSNP
2g.120978503G>CCA348161519GLI2c.1387G>C (p.Glu463Gln)
c.1438G>C (p.Glu480Gln)
c.451G>C (p.Glu151Gln)
c.*486G>C (n.*486G>C)
n.1412G>C
c.*537G>C (n.*537G>C)
c.1420G>C (p.Glu474Gln)
c.1297G>C (p.Glu433Gln)
c.1243G>C (p.Glu415Gln)
c.1063G>C (p.Glu355Gln)
c.1012G>C (p.Glu338Gln)
c.1690G>C (p.Glu564Gln)
c.1339G>C (p.Glu447Gln)
c.1639G>C (p.Glu547Gln)
2g.120978503G=CA1283790673GLI2c.1387G= (p.Glu463=)
c.1438G= (p.Glu480=)
c.451G= (p.Glu151=)
c.*486G= (n.*486G=)
n.1412G=
c.*537G= (n.*537G=)
c.1420G= (p.Glu474=)
c.1297G= (p.Glu433=)
c.1243G= (p.Glu415=)
c.1063G= (p.Glu355=)
c.1012G= (p.Glu338=)
c.1690G= (p.Glu564=)
c.1339G= (p.Glu447=)
c.1639G= (p.Glu547=)
2g.120978503G>TCA348161520GLI2c.1387G>T (p.Glu463Ter)
c.1438G>T (p.Glu480Ter)
c.451G>T (p.Glu151Ter)
c.*486G>T (n.*486G>T)
n.1412G>T
c.*537G>T (n.*537G>T)
c.1420G>T (p.Glu474Ter)
c.1297G>T (p.Glu433Ter)
c.1243G>T (p.Glu415Ter)
c.1063G>T (p.Glu355Ter)
c.1012G>T (p.Glu338Ter)
c.1690G>T (p.Glu564Ter)
c.1339G>T (p.Glu447Ter)
c.1639G>T (p.Glu547Ter)
2g.120978504A>CCA348161523GLI2c.1388A>C (p.Glu463Ala)
c.1439A>C (p.Glu480Ala)
c.452A>C (p.Glu151Ala)
c.*487A>C (n.*487A>C)
n.1413A>C
c.*538A>C (n.*538A>C)
c.1421A>C (p.Glu474Ala)
c.1298A>C (p.Glu433Ala)
c.1244A>C (p.Glu415Ala)
c.1064A>C (p.Glu355Ala)
c.1013A>C (p.Glu338Ala)
c.1691A>C (p.Glu564Ala)
c.1340A>C (p.Glu447Ala)
c.1640A>C (p.Glu547Ala)
2g.120978504A>GCA348161521GLI2c.1388A>G (p.Glu463Gly)
c.1439A>G (p.Glu480Gly)
c.452A>G (p.Glu151Gly)
c.*487A>G (n.*487A>G)
n.1413A>G
c.*538A>G (n.*538A>G)
c.1421A>G (p.Glu474Gly)
c.1298A>G (p.Glu433Gly)
c.1244A>G (p.Glu415Gly)
c.1064A>G (p.Glu355Gly)
c.1013A>G (p.Glu338Gly)
c.1691A>G (p.Glu564Gly)
c.1340A>G (p.Glu447Gly)
c.1640A>G (p.Glu547Gly)
2g.120978504A>TCA348161522GLI2c.1388A>T (p.Glu463Val)
c.1439A>T (p.Glu480Val)
c.452A>T (p.Glu151Val)
c.*487A>T (n.*487A>T)
n.1413A>T
c.*538A>T (n.*538A>T)
c.1421A>T (p.Glu474Val)
c.1298A>T (p.Glu433Val)
c.1244A>T (p.Glu415Val)
c.1064A>T (p.Glu355Val)
c.1013A>T (p.Glu338Val)
c.1691A>T (p.Glu564Val)
c.1340A>T (p.Glu447Val)
c.1640A>T (p.Glu547Val)
2g.120978505G>ACA428229935GLI2c.1389G>A (p.Glu463=)
c.1440G>A (p.Glu480=)
c.453G>A (p.Glu151=)
c.*488G>A (n.*488G>A)
n.1414G>A
c.*539G>A (n.*539G>A)
c.1422G>A (p.Glu474=)
c.1299G>A (p.Glu433=)
c.1245G>A (p.Glu415=)
c.1065G>A (p.Glu355=)
c.1014G>A (p.Glu338=)
c.1692G>A (p.Glu564=)
c.1341G>A (p.Glu447=)
c.1641G>A (p.Glu547=)
 gnomAD v4
2g.120978505G>CCA348161524GLI2c.1389G>C (p.Glu463Asp)
c.1440G>C (p.Glu480Asp)
c.453G>C (p.Glu151Asp)
c.*488G>C (n.*488G>C)
n.1414G>C
c.*539G>C (n.*539G>C)
c.1422G>C (p.Glu474Asp)
c.1299G>C (p.Glu433Asp)
c.1245G>C (p.Glu415Asp)
c.1065G>C (p.Glu355Asp)
c.1014G>C (p.Glu338Asp)
c.1692G>C (p.Glu564Asp)
c.1341G>C (p.Glu447Asp)
c.1641G>C (p.Glu547Asp)
2g.120978505G>TCA348161525GLI2c.1389G>T (p.Glu463Asp)
c.1440G>T (p.Glu480Asp)
c.453G>T (p.Glu151Asp)
c.*488G>T (n.*488G>T)
n.1414G>T
c.*539G>T (n.*539G>T)
c.1422G>T (p.Glu474Asp)
c.1299G>T (p.Glu433Asp)
c.1245G>T (p.Glu415Asp)
c.1065G>T (p.Glu355Asp)
c.1014G>T (p.Glu338Asp)
c.1692G>T (p.Glu564Asp)
c.1341G>T (p.Glu447Asp)
c.1641G>T (p.Glu547Asp)
2g.120978506C>ACA348161526GLI2c.1390C>A (p.Gln464Lys)
c.1441C>A (p.Gln481Lys)
c.454C>A (p.Gln152Lys)
c.*489C>A (n.*489C>A)
n.1415C>A
c.*540C>A (n.*540C>A)
c.1423C>A (p.Gln475Lys)
c.1300C>A (p.Gln434Lys)
c.1246C>A (p.Gln416Lys)
c.1066C>A (p.Gln356Lys)
c.1015C>A (p.Gln339Lys)
c.1693C>A (p.Gln565Lys)
c.1342C>A (p.Gln448Lys)
c.1642C>A (p.Gln548Lys)
2g.120978506C>GCA348161527GLI2c.1390C>G (p.Gln464Glu)
c.1441C>G (p.Gln481Glu)
c.454C>G (p.Gln152Glu)
c.*489C>G (n.*489C>G)
n.1415C>G
c.*540C>G (n.*540C>G)
c.1423C>G (p.Gln475Glu)
c.1300C>G (p.Gln434Glu)
c.1246C>G (p.Gln416Glu)
c.1066C>G (p.Gln356Glu)
c.1015C>G (p.Gln339Glu)
c.1693C>G (p.Gln565Glu)
c.1342C>G (p.Gln448Glu)
c.1642C>G (p.Gln548Glu)
2g.120978506C>TCA348161528GLI2c.1390C>T (p.Gln464Ter)
c.1441C>T (p.Gln481Ter)
c.454C>T (p.Gln152Ter)
c.*489C>T (n.*489C>T)
n.1415C>T
c.*540C>T (n.*540C>T)
c.1423C>T (p.Gln475Ter)
c.1300C>T (p.Gln434Ter)
c.1246C>T (p.Gln416Ter)
c.1066C>T (p.Gln356Ter)
c.1015C>T (p.Gln339Ter)
c.1693C>T (p.Gln565Ter)
c.1342C>T (p.Gln448Ter)
c.1642C>T (p.Gln548Ter)
2g.120978507A=CA1283790674GLI2c.1391A= (p.Gln464=)
c.1442A= (p.Gln481=)
c.455A= (p.Gln152=)
c.*490A= (n.*490A=)
n.1416A=
c.*541A= (n.*541A=)
c.1424A= (p.Gln475=)
c.1301A= (p.Gln434=)
c.1247A= (p.Gln416=)
c.1067A= (p.Gln356=)
c.1016A= (p.Gln339=)
c.1694A= (p.Gln565=)
c.1343A= (p.Gln448=)
c.1643A= (p.Gln548=)
2g.120978507A>CCA348161529GLI2c.1391A>C (p.Gln464Pro)
c.1442A>C (p.Gln481Pro)
c.455A>C (p.Gln152Pro)
c.*490A>C (n.*490A>C)
n.1416A>C
c.*541A>C (n.*541A>C)
c.1424A>C (p.Gln475Pro)
c.1301A>C (p.Gln434Pro)
c.1247A>C (p.Gln416Pro)
c.1067A>C (p.Gln356Pro)
c.1016A>C (p.Gln339Pro)
c.1694A>C (p.Gln565Pro)
c.1343A>C (p.Gln448Pro)
c.1643A>C (p.Gln548Pro)
2g.120978507A>GCA1851905GLI2c.1391A>G (p.Gln464Arg)
c.1442A>G (p.Gln481Arg)
c.455A>G (p.Gln152Arg)
c.*490A>G (n.*490A>G)
n.1416A>G
c.*541A>G (n.*541A>G)
c.1424A>G (p.Gln475Arg)
c.1301A>G (p.Gln434Arg)
c.1247A>G (p.Gln416Arg)
c.1067A>G (p.Gln356Arg)
c.1016A>G (p.Gln339Arg)
c.1694A>G (p.Gln565Arg)
c.1343A>G (p.Gln448Arg)
c.1643A>G (p.Gln548Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120978507A>TCA348161530GLI2c.1391A>T (p.Gln464Leu)
c.1442A>T (p.Gln481Leu)
c.455A>T (p.Gln152Leu)
c.*490A>T (n.*490A>T)
n.1416A>T
c.*541A>T (n.*541A>T)
c.1424A>T (p.Gln475Leu)
c.1301A>T (p.Gln434Leu)
c.1247A>T (p.Gln416Leu)
c.1067A>T (p.Gln356Leu)
c.1016A>T (p.Gln339Leu)
c.1694A>T (p.Gln565Leu)
c.1343A>T (p.Gln448Leu)
c.1643A>T (p.Gln548Leu)
2g.120978508G>ACA428229936GLI2c.1392G>A (p.Gln464=)
c.1443G>A (p.Gln481=)
c.456G>A (p.Gln152=)
c.*491G>A (n.*491G>A)
n.1417G>A
c.*542G>A (n.*542G>A)
c.1425G>A (p.Gln475=)
c.1302G>A (p.Gln434=)
c.1248G>A (p.Gln416=)
c.1068G>A (p.Gln356=)
c.1017G>A (p.Gln339=)
c.1695G>A (p.Gln565=)
c.1344G>A (p.Gln448=)
c.1644G>A (p.Gln548=)
2g.120978508G>CCA348161531GLI2c.1392G>C (p.Gln464His)
c.1443G>C (p.Gln481His)
c.456G>C (p.Gln152His)
c.*491G>C (n.*491G>C)
n.1417G>C
c.*542G>C (n.*542G>C)
c.1425G>C (p.Gln475His)
c.1302G>C (p.Gln434His)
c.1248G>C (p.Gln416His)
c.1068G>C (p.Gln356His)
c.1017G>C (p.Gln339His)
c.1695G>C (p.Gln565His)
c.1344G>C (p.Gln448His)
c.1644G>C (p.Gln548His)
2g.120978508G>TCA348161532GLI2c.1392G>T (p.Gln464His)
c.1443G>T (p.Gln481His)
c.456G>T (p.Gln152His)
c.*491G>T (n.*491G>T)
n.1417G>T
c.*542G>T (n.*542G>T)
c.1425G>T (p.Gln475His)
c.1302G>T (p.Gln434His)
c.1248G>T (p.Gln416His)
c.1068G>T (p.Gln356His)
c.1017G>T (p.Gln339His)
c.1695G>T (p.Gln565His)
c.1344G>T (p.Gln448His)
c.1644G>T (p.Gln548His)
2g.120978509A=CA1283790675GLI2c.1393A= (p.Lys465=)
c.1444A= (p.Lys482=)
c.457A= (p.Lys153=)
c.*492A= (n.*492A=)
n.1418A=
c.*543A= (n.*543A=)
c.1426A= (p.Lys476=)
c.1303A= (p.Lys435=)
c.1249A= (p.Lys417=)
c.1069A= (p.Lys357=)
c.1018A= (p.Lys340=)
c.1696A= (p.Lys566=)
c.1345A= (p.Lys449=)
c.1645A= (p.Lys549=)
2g.120978509A>CCA348161533GLI2c.1393A>C (p.Lys465Gln)
c.1444A>C (p.Lys482Gln)
c.457A>C (p.Lys153Gln)
c.*492A>C (n.*492A>C)
n.1418A>C
c.*543A>C (n.*543A>C)
c.1426A>C (p.Lys476Gln)
c.1303A>C (p.Lys435Gln)
c.1249A>C (p.Lys417Gln)
c.1069A>C (p.Lys357Gln)
c.1018A>C (p.Lys340Gln)
c.1696A>C (p.Lys566Gln)
c.1345A>C (p.Lys449Gln)
c.1645A>C (p.Lys549Gln)
2g.120978509A>GCA348161534GLI2c.1393A>G (p.Lys465Glu)
c.1444A>G (p.Lys482Glu)
c.457A>G (p.Lys153Glu)
c.*492A>G (n.*492A>G)
n.1418A>G
c.*543A>G (n.*543A>G)
c.1426A>G (p.Lys476Glu)
c.1303A>G (p.Lys435Glu)
c.1249A>G (p.Lys417Glu)
c.1069A>G (p.Lys357Glu)
c.1018A>G (p.Lys340Glu)
c.1696A>G (p.Lys566Glu)
c.1345A>G (p.Lys449Glu)
c.1645A>G (p.Lys549Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.120978509A>TCA348161535GLI2c.1393A>T (p.Lys465Ter)
c.1444A>T (p.Lys482Ter)
c.457A>T (p.Lys153Ter)
c.*492A>T (n.*492A>T)
n.1418A>T
c.*543A>T (n.*543A>T)
c.1426A>T (p.Lys476Ter)
c.1303A>T (p.Lys435Ter)
c.1249A>T (p.Lys417Ter)
c.1069A>T (p.Lys357Ter)
c.1018A>T (p.Lys340Ter)
c.1696A>T (p.Lys566Ter)
c.1345A>T (p.Lys449Ter)
c.1645A>T (p.Lys549Ter)
 ClinVar
2g.120978510A=CA1283790676GLI2c.1394A= (p.Lys465=)
c.1445A= (p.Lys482=)
c.458A= (p.Lys153=)
c.*493A= (n.*493A=)
n.1419A=
c.*544A= (n.*544A=)
c.1427A= (p.Lys476=)
c.1304A= (p.Lys435=)
c.1250A= (p.Lys417=)
c.1070A= (p.Lys357=)
c.1019A= (p.Lys340=)
c.1697A= (p.Lys566=)
c.1346A= (p.Lys449=)
c.1646A= (p.Lys549=)
2g.120978510A>CCA1851906GLI2c.1394A>C (p.Lys465Thr)
c.1445A>C (p.Lys482Thr)
c.458A>C (p.Lys153Thr)
c.*493A>C (n.*493A>C)
n.1419A>C
c.*544A>C (n.*544A>C)
c.1427A>C (p.Lys476Thr)
c.1304A>C (p.Lys435Thr)
c.1250A>C (p.Lys417Thr)
c.1070A>C (p.Lys357Thr)
c.1019A>C (p.Lys340Thr)
c.1697A>C (p.Lys566Thr)
c.1346A>C (p.Lys449Thr)
c.1646A>C (p.Lys549Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.120978510A>GCA348161536GLI2c.1394A>G (p.Lys465Arg)
c.1445A>G (p.Lys482Arg)
c.458A>G (p.Lys153Arg)
c.*493A>G (n.*493A>G)
n.1419A>G
c.*544A>G (n.*544A>G)
c.1427A>G (p.Lys476Arg)
c.1304A>G (p.Lys435Arg)
c.1250A>G (p.Lys417Arg)
c.1070A>G (p.Lys357Arg)
c.1019A>G (p.Lys340Arg)
c.1697A>G (p.Lys566Arg)
c.1346A>G (p.Lys449Arg)
c.1646A>G (p.Lys549Arg)
2g.120978510A>TCA348161537GLI2c.1394A>T (p.Lys465Met)
c.1445A>T (p.Lys482Met)
c.458A>T (p.Lys153Met)
c.*493A>T (n.*493A>T)
n.1419A>T
c.*544A>T (n.*544A>T)
c.1427A>T (p.Lys476Met)
c.1304A>T (p.Lys435Met)
c.1250A>T (p.Lys417Met)
c.1070A>T (p.Lys357Met)
c.1019A>T (p.Lys340Met)
c.1697A>T (p.Lys566Met)
c.1346A>T (p.Lys449Met)
c.1646A>T (p.Lys549Met)
2g.120978511G>ACA428229937GLI2c.1395G>A (p.Lys465=)
c.1446G>A (p.Lys482=)
c.459G>A (p.Lys153=)
c.*494G>A (n.*494G>A)
n.1420G>A
c.*545G>A (n.*545G>A)
c.1428G>A (p.Lys476=)
c.1305G>A (p.Lys435=)
c.1251G>A (p.Lys417=)
c.1071G>A (p.Lys357=)
c.1020G>A (p.Lys340=)
c.1698G>A (p.Lys566=)
c.1347G>A (p.Lys449=)
c.1647G>A (p.Lys549=)
2g.120978511G>CCA348161538GLI2c.1395G>C (p.Lys465Asn)
c.1446G>C (p.Lys482Asn)
c.459G>C (p.Lys153Asn)
c.*494G>C (n.*494G>C)
n.1420G>C
c.*545G>C (n.*545G>C)
c.1428G>C (p.Lys476Asn)
c.1305G>C (p.Lys435Asn)
c.1251G>C (p.Lys417Asn)
c.1071G>C (p.Lys357Asn)
c.1020G>C (p.Lys340Asn)
c.1698G>C (p.Lys566Asn)
c.1347G>C (p.Lys449Asn)
c.1647G>C (p.Lys549Asn)
2g.120978511G>TCA348161539GLI2c.1395G>T (p.Lys465Asn)
c.1446G>T (p.Lys482Asn)
c.459G>T (p.Lys153Asn)
c.*494G>T (n.*494G>T)
n.1420G>T
c.*545G>T (n.*545G>T)
c.1428G>T (p.Lys476Asn)
c.1305G>T (p.Lys435Asn)
c.1251G>T (p.Lys417Asn)
c.1071G>T (p.Lys357Asn)
c.1020G>T (p.Lys340Asn)
c.1698G>T (p.Lys566Asn)
c.1347G>T (p.Lys449Asn)
c.1647G>T (p.Lys549Asn)
2g.120978512C>ACA54373283GLI2c.1396C>A (p.Pro466Thr)
c.1447C>A (p.Pro483Thr)
c.460C>A (p.Pro154Thr)
c.*495C>A (n.*495C>A)
n.1421C>A
c.*546C>A (n.*546C>A)
c.1429C>A (p.Pro477Thr)
c.1306C>A (p.Pro436Thr)
c.1252C>A (p.Pro418Thr)
c.1072C>A (p.Pro358Thr)
c.1021C>A (p.Pro341Thr)
c.1699C>A (p.Pro567Thr)
c.1348C>A (p.Pro450Thr)
c.1648C>A (p.Pro550Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.120978512C=CA1283790677GLI2c.1396C= (p.Pro466=)
c.1447C= (p.Pro483=)
c.460C= (p.Pro154=)
c.*495C= (n.*495C=)
n.1421C=
c.*546C= (n.*546C=)
c.1429C= (p.Pro477=)
c.1306C= (p.Pro436=)
c.1252C= (p.Pro418=)
c.1072C= (p.Pro358=)
c.1021C= (p.Pro341=)
c.1699C= (p.Pro567=)
c.1348C= (p.Pro450=)
c.1648C= (p.Pro550=)
2g.120978512C>GCA348161541GLI2c.1396C>G (p.Pro466Ala)
c.1447C>G (p.Pro483Ala)
c.460C>G (p.Pro154Ala)
c.*495C>G (n.*495C>G)
n.1421C>G
c.*546C>G (n.*546C>G)
c.1429C>G (p.Pro477Ala)
c.1306C>G (p.Pro436Ala)
c.1252C>G (p.Pro418Ala)
c.1072C>G (p.Pro358Ala)
c.1021C>G (p.Pro341Ala)
c.1699C>G (p.Pro567Ala)
c.1348C>G (p.Pro450Ala)
c.1648C>G (p.Pro550Ala)
2g.120978512C>TCA348161540GLI2c.1396C>T (p.Pro466Ser)
c.1447C>T (p.Pro483Ser)
c.460C>T (p.Pro154Ser)
c.*495C>T (n.*495C>T)
n.1421C>T
c.*546C>T (n.*546C>T)
c.1429C>T (p.Pro477Ser)
c.1306C>T (p.Pro436Ser)
c.1252C>T (p.Pro418Ser)
c.1072C>T (p.Pro358Ser)
c.1021C>T (p.Pro341Ser)
c.1699C>T (p.Pro567Ser)
c.1348C>T (p.Pro450Ser)
c.1648C>T (p.Pro550Ser)
 gnomAD v4
2g.120978513C>ACA348161542GLI2c.1397C>A (p.Pro466His)
c.1448C>A (p.Pro483His)
c.461C>A (p.Pro154His)
c.*496C>A (n.*496C>A)
n.1422C>A
c.*547C>A (n.*547C>A)
c.1430C>A (p.Pro477His)
c.1307C>A (p.Pro436His)
c.1253C>A (p.Pro418His)
c.1073C>A (p.Pro358His)
c.1022C>A (p.Pro341His)
c.1700C>A (p.Pro567His)
c.1349C>A (p.Pro450His)
c.1649C>A (p.Pro550His)
2g.120978513C>GCA348161544GLI2c.1397C>G (p.Pro466Arg)
c.1448C>G (p.Pro483Arg)
c.461C>G (p.Pro154Arg)
c.*496C>G (n.*496C>G)
n.1422C>G
c.*547C>G (n.*547C>G)
c.1430C>G (p.Pro477Arg)
c.1307C>G (p.Pro436Arg)
c.1253C>G (p.Pro418Arg)
c.1073C>G (p.Pro358Arg)
c.1022C>G (p.Pro341Arg)
c.1700C>G (p.Pro567Arg)
c.1349C>G (p.Pro450Arg)
c.1649C>G (p.Pro550Arg)
2g.120978513C>TCA348161543GLI2c.1397C>T (p.Pro466Leu)
c.1448C>T (p.Pro483Leu)
c.461C>T (p.Pro154Leu)
c.*496C>T (n.*496C>T)
n.1422C>T
c.*547C>T (n.*547C>T)
c.1430C>T (p.Pro477Leu)
c.1307C>T (p.Pro436Leu)
c.1253C>T (p.Pro418Leu)
c.1073C>T (p.Pro358Leu)
c.1022C>T (p.Pro341Leu)
c.1700C>T (p.Pro567Leu)
c.1349C>T (p.Pro450Leu)
c.1649C>T (p.Pro550Leu)
2g.120978514C>ACA428229938GLI2c.1398C>A (p.Pro466=)
c.1449C>A (p.Pro483=)
c.462C>A (p.Pro154=)
c.*497C>A (n.*497C>A)
n.1423C>A
c.*548C>A (n.*548C>A)
c.1431C>A (p.Pro477=)
c.1308C>A (p.Pro436=)
c.1254C>A (p.Pro418=)
c.1074C>A (p.Pro358=)
c.1023C>A (p.Pro341=)
c.1701C>A (p.Pro567=)
c.1350C>A (p.Pro450=)
c.1650C>A (p.Pro550=)
 COSMIC
2g.120978514C=CA1283790678GLI2c.1398C= (p.Pro466=)
c.1449C= (p.Pro483=)
c.462C= (p.Pro154=)
c.*497C= (n.*497C=)
n.1423C=
c.*548C= (n.*548C=)
c.1431C= (p.Pro477=)
c.1308C= (p.Pro436=)
c.1254C= (p.Pro418=)
c.1074C= (p.Pro358=)
c.1023C= (p.Pro341=)
c.1701C= (p.Pro567=)
c.1350C= (p.Pro450=)
c.1650C= (p.Pro550=)
2g.120978514C>GCA1851907GLI2c.1398C>G (p.Pro466=)
c.1449C>G (p.Pro483=)
c.462C>G (p.Pro154=)
c.*497C>G (n.*497C>G)
n.1423C>G
c.*548C>G (n.*548C>G)
c.1431C>G (p.Pro477=)
c.1308C>G (p.Pro436=)
c.1254C>G (p.Pro418=)
c.1074C>G (p.Pro358=)
c.1023C>G (p.Pro341=)
c.1701C>G (p.Pro567=)
c.1350C>G (p.Pro450=)
c.1650C>G (p.Pro550=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120978514C>TCA428229939GLI2c.1398C>T (p.Pro466=)
c.1449C>T (p.Pro483=)
c.462C>T (p.Pro154=)
c.*497C>T (n.*497C>T)
n.1423C>T
c.*548C>T (n.*548C>T)
c.1431C>T (p.Pro477=)
c.1308C>T (p.Pro436=)
c.1254C>T (p.Pro418=)
c.1074C>T (p.Pro358=)
c.1023C>T (p.Pro341=)
c.1701C>T (p.Pro567=)
c.1350C>T (p.Pro450=)
c.1650C>T (p.Pro550=)
 gnomAD v4
2g.120978515T>ACA348161547GLI2c.1399T>A (p.Phe467Ile)
c.1450T>A (p.Phe484Ile)
c.463T>A (p.Phe155Ile)
c.*498T>A (n.*498T>A)
n.1424T>A
c.*549T>A (n.*549T>A)
c.1432T>A (p.Phe478Ile)
c.1309T>A (p.Phe437Ile)
c.1255T>A (p.Phe419Ile)
c.1075T>A (p.Phe359Ile)
c.1024T>A (p.Phe342Ile)
c.1702T>A (p.Phe568Ile)
c.1351T>A (p.Phe451Ile)
c.1651T>A (p.Phe551Ile)
2g.120978515T>CCA348161545GLI2c.1399T>C (p.Phe467Leu)
c.1450T>C (p.Phe484Leu)
c.463T>C (p.Phe155Leu)
c.*498T>C (n.*498T>C)
n.1424T>C
c.*549T>C (n.*549T>C)
c.1432T>C (p.Phe478Leu)
c.1309T>C (p.Phe437Leu)
c.1255T>C (p.Phe419Leu)
c.1075T>C (p.Phe359Leu)
c.1024T>C (p.Phe342Leu)
c.1702T>C (p.Phe568Leu)
c.1351T>C (p.Phe451Leu)
c.1651T>C (p.Phe551Leu)
2g.120978515T>GCA348161546GLI2c.1399T>G (p.Phe467Val)
c.1450T>G (p.Phe484Val)
c.463T>G (p.Phe155Val)
c.*498T>G (n.*498T>G)
n.1424T>G
c.*549T>G (n.*549T>G)
c.1432T>G (p.Phe478Val)
c.1309T>G (p.Phe437Val)
c.1255T>G (p.Phe419Val)
c.1075T>G (p.Phe359Val)
c.1024T>G (p.Phe342Val)
c.1702T>G (p.Phe568Val)
c.1351T>G (p.Phe451Val)
c.1651T>G (p.Phe551Val)
2g.120978516T>ACA348161548GLI2c.1400T>A (p.Phe467Tyr)
c.1451T>A (p.Phe484Tyr)
c.464T>A (p.Phe155Tyr)
c.*499T>A (n.*499T>A)
n.1425T>A
c.*550T>A (n.*550T>A)
c.1433T>A (p.Phe478Tyr)
c.1310T>A (p.Phe437Tyr)
c.1256T>A (p.Phe419Tyr)
c.1076T>A (p.Phe359Tyr)
c.1025T>A (p.Phe342Tyr)
c.1703T>A (p.Phe568Tyr)
c.1352T>A (p.Phe451Tyr)
c.1652T>A (p.Phe551Tyr)
2g.120978516T>CCA348161549GLI2c.1400T>C (p.Phe467Ser)
c.1451T>C (p.Phe484Ser)
c.464T>C (p.Phe155Ser)
c.*499T>C (n.*499T>C)
n.1425T>C
c.*550T>C (n.*550T>C)
c.1433T>C (p.Phe478Ser)
c.1310T>C (p.Phe437Ser)
c.1256T>C (p.Phe419Ser)
c.1076T>C (p.Phe359Ser)
c.1025T>C (p.Phe342Ser)
c.1703T>C (p.Phe568Ser)
c.1352T>C (p.Phe451Ser)
c.1652T>C (p.Phe551Ser)
2g.120978516T>GCA348161550GLI2c.1400T>G (p.Phe467Cys)
c.1451T>G (p.Phe484Cys)
c.464T>G (p.Phe155Cys)
c.*499T>G (n.*499T>G)
n.1425T>G
c.*550T>G (n.*550T>G)
c.1433T>G (p.Phe478Cys)
c.1310T>G (p.Phe437Cys)
c.1256T>G (p.Phe419Cys)
c.1076T>G (p.Phe359Cys)
c.1025T>G (p.Phe342Cys)
c.1703T>G (p.Phe568Cys)
c.1352T>G (p.Phe451Cys)
c.1652T>G (p.Phe551Cys)
 COSMIC
2g.120978517C>ACA348161551GLI2c.1401C>A (p.Phe467Leu)
c.1452C>A (p.Phe484Leu)
c.465C>A (p.Phe155Leu)
c.*500C>A (n.*500C>A)
n.1426C>A
c.*551C>A (n.*551C>A)
c.1434C>A (p.Phe478Leu)
c.1311C>A (p.Phe437Leu)
c.1257C>A (p.Phe419Leu)
c.1077C>A (p.Phe359Leu)
c.1026C>A (p.Phe342Leu)
c.1704C>A (p.Phe568Leu)
c.1353C>A (p.Phe451Leu)
c.1653C>A (p.Phe551Leu)
2g.120978517C>GCA348161552GLI2c.1401C>G (p.Phe467Leu)
c.1452C>G (p.Phe484Leu)
c.465C>G (p.Phe155Leu)
c.*500C>G (n.*500C>G)
n.1426C>G
c.*551C>G (n.*551C>G)
c.1434C>G (p.Phe478Leu)
c.1311C>G (p.Phe437Leu)
c.1257C>G (p.Phe419Leu)
c.1077C>G (p.Phe359Leu)
c.1026C>G (p.Phe342Leu)
c.1704C>G (p.Phe568Leu)
c.1353C>G (p.Phe451Leu)
c.1653C>G (p.Phe551Leu)
2g.120978517C>TCA428229940GLI2c.1401C>T (p.Phe467=)
c.1452C>T (p.Phe484=)
c.465C>T (p.Phe155=)
c.*500C>T (n.*500C>T)
n.1426C>T
c.*551C>T (n.*551C>T)
c.1434C>T (p.Phe478=)
c.1311C>T (p.Phe437=)
c.1257C>T (p.Phe419=)
c.1077C>T (p.Phe359=)
c.1026C>T (p.Phe342=)
c.1704C>T (p.Phe568=)
c.1353C>T (p.Phe451=)
c.1653C>T (p.Phe551=)
2g.120978518A>CCA348161553GLI2c.1402A>C (p.Lys468Gln)
c.1453A>C (p.Lys485Gln)
c.466A>C (p.Lys156Gln)
c.*501A>C (n.*501A>C)
n.1427A>C
c.*552A>C (n.*552A>C)
c.1435A>C (p.Lys479Gln)
c.1312A>C (p.Lys438Gln)
c.1258A>C (p.Lys420Gln)
c.1078A>C (p.Lys360Gln)
c.1027A>C (p.Lys343Gln)
c.1705A>C (p.Lys569Gln)
c.1354A>C (p.Lys452Gln)
c.1654A>C (p.Lys552Gln)
2g.120978518A>GCA348161554GLI2c.1402A>G (p.Lys468Glu)
c.1453A>G (p.Lys485Glu)
c.466A>G (p.Lys156Glu)
c.*501A>G (n.*501A>G)
n.1427A>G
c.*552A>G (n.*552A>G)
c.1435A>G (p.Lys479Glu)
c.1312A>G (p.Lys438Glu)
c.1258A>G (p.Lys420Glu)
c.1078A>G (p.Lys360Glu)
c.1027A>G (p.Lys343Glu)
c.1705A>G (p.Lys569Glu)
c.1354A>G (p.Lys452Glu)
c.1654A>G (p.Lys552Glu)
2g.120978518A>TCA348161555GLI2c.1402A>T (p.Lys468Ter)
c.1453A>T (p.Lys485Ter)
c.466A>T (p.Lys156Ter)
c.*501A>T (n.*501A>T)
n.1427A>T
c.*552A>T (n.*552A>T)
c.1435A>T (p.Lys479Ter)
c.1312A>T (p.Lys438Ter)
c.1258A>T (p.Lys420Ter)
c.1078A>T (p.Lys360Ter)
c.1027A>T (p.Lys343Ter)
c.1705A>T (p.Lys569Ter)
c.1354A>T (p.Lys452Ter)
c.1654A>T (p.Lys552Ter)
2g.120978519A>CCA348161556GLI2c.1403A>C (p.Lys468Thr)
c.1454A>C (p.Lys485Thr)
c.467A>C (p.Lys156Thr)
c.*502A>C (n.*502A>C)
n.1428A>C
c.*553A>C (n.*553A>C)
c.1436A>C (p.Lys479Thr)
c.1313A>C (p.Lys438Thr)
c.1259A>C (p.Lys420Thr)
c.1079A>C (p.Lys360Thr)
c.1028A>C (p.Lys343Thr)
c.1706A>C (p.Lys569Thr)
c.1355A>C (p.Lys452Thr)
c.1655A>C (p.Lys552Thr)
2g.120978519A>GCA348161557GLI2c.1403A>G (p.Lys468Arg)
c.1454A>G (p.Lys485Arg)
c.467A>G (p.Lys156Arg)
c.*502A>G (n.*502A>G)
n.1428A>G
c.*553A>G (n.*553A>G)
c.1436A>G (p.Lys479Arg)
c.1313A>G (p.Lys438Arg)
c.1259A>G (p.Lys420Arg)
c.1079A>G (p.Lys360Arg)
c.1028A>G (p.Lys343Arg)
c.1706A>G (p.Lys569Arg)
c.1355A>G (p.Lys452Arg)
c.1655A>G (p.Lys552Arg)
2g.120978519A>TCA348161558GLI2c.1403A>T (p.Lys468Met)
c.1454A>T (p.Lys485Met)
c.467A>T (p.Lys156Met)
c.*502A>T (n.*502A>T)
n.1428A>T
c.*553A>T (n.*553A>T)
c.1436A>T (p.Lys479Met)
c.1313A>T (p.Lys438Met)
c.1259A>T (p.Lys420Met)
c.1079A>T (p.Lys360Met)
c.1028A>T (p.Lys343Met)
c.1706A>T (p.Lys569Met)
c.1355A>T (p.Lys452Met)
c.1655A>T (p.Lys552Met)
2g.120978520G>ACA428229941GLI2c.1404G>A (p.Lys468=)
c.1455G>A (p.Lys485=)
c.468G>A (p.Lys156=)
c.*503G>A (n.*503G>A)
n.1429G>A
c.*554G>A (n.*554G>A)
c.1437G>A (p.Lys479=)
c.1314G>A (p.Lys438=)
c.1260G>A (p.Lys420=)
c.1080G>A (p.Lys360=)
c.1029G>A (p.Lys343=)
c.1707G>A (p.Lys569=)
c.1356G>A (p.Lys452=)
c.1656G>A (p.Lys552=)
2g.120978520G>CCA348161560GLI2c.1404G>C (p.Lys468Asn)
c.1455G>C (p.Lys485Asn)
c.468G>C (p.Lys156Asn)
c.*503G>C (n.*503G>C)
n.1429G>C
c.*554G>C (n.*554G>C)
c.1437G>C (p.Lys479Asn)
c.1314G>C (p.Lys438Asn)
c.1260G>C (p.Lys420Asn)
c.1080G>C (p.Lys360Asn)
c.1029G>C (p.Lys343Asn)
c.1707G>C (p.Lys569Asn)
c.1356G>C (p.Lys452Asn)
c.1656G>C (p.Lys552Asn)
2g.120978520G>TCA348161559GLI2c.1404G>T (p.Lys468Asn)
c.1455G>T (p.Lys485Asn)
c.468G>T (p.Lys156Asn)
c.*503G>T (n.*503G>T)
n.1429G>T
c.*554G>T (n.*554G>T)
c.1437G>T (p.Lys479Asn)
c.1314G>T (p.Lys438Asn)
c.1260G>T (p.Lys420Asn)
c.1080G>T (p.Lys360Asn)
c.1029G>T (p.Lys343Asn)
c.1707G>T (p.Lys569Asn)
c.1356G>T (p.Lys452Asn)
c.1656G>T (p.Lys552Asn)
2g.120978521G>ACA348161561GLI2c.1405G>A (p.Ala469Thr)
c.1456G>A (p.Ala486Thr)
c.469G>A (p.Ala157Thr)
c.*504G>A (n.*504G>A)
n.1430G>A
c.*555G>A (n.*555G>A)
c.1438G>A (p.Ala480Thr)
c.1315G>A (p.Ala439Thr)
c.1261G>A (p.Ala421Thr)
c.1081G>A (p.Ala361Thr)
c.1030G>A (p.Ala344Thr)
c.1708G>A (p.Ala570Thr)
c.1357G>A (p.Ala453Thr)
c.1657G>A (p.Ala553Thr)
2g.120978521G>CCA348161562GLI2c.1405G>C (p.Ala469Pro)
c.1456G>C (p.Ala486Pro)
c.469G>C (p.Ala157Pro)
c.*504G>C (n.*504G>C)
n.1430G>C
c.*555G>C (n.*555G>C)
c.1438G>C (p.Ala480Pro)
c.1315G>C (p.Ala439Pro)
c.1261G>C (p.Ala421Pro)
c.1081G>C (p.Ala361Pro)
c.1030G>C (p.Ala344Pro)
c.1708G>C (p.Ala570Pro)
c.1357G>C (p.Ala453Pro)
c.1657G>C (p.Ala553Pro)
2g.120978521G>TCA348161563GLI2c.1405G>T (p.Ala469Ser)
c.1456G>T (p.Ala486Ser)
c.469G>T (p.Ala157Ser)
c.*504G>T (n.*504G>T)
n.1430G>T
c.*555G>T (n.*555G>T)
c.1438G>T (p.Ala480Ser)
c.1315G>T (p.Ala439Ser)
c.1261G>T (p.Ala421Ser)
c.1081G>T (p.Ala361Ser)
c.1030G>T (p.Ala344Ser)
c.1708G>T (p.Ala570Ser)
c.1357G>T (p.Ala453Ser)
c.1657G>T (p.Ala553Ser)
2g.120978522C>ACA348161564GLI2c.1406C>A (p.Ala469Glu)
c.1457C>A (p.Ala486Glu)
c.470C>A (p.Ala157Glu)
c.*505C>A (n.*505C>A)
n.1431C>A
c.*556C>A (n.*556C>A)
c.1439C>A (p.Ala480Glu)
c.1316C>A (p.Ala439Glu)
c.1262C>A (p.Ala421Glu)
c.1082C>A (p.Ala361Glu)
c.1031C>A (p.Ala344Glu)
c.1709C>A (p.Ala570Glu)
c.1358C>A (p.Ala453Glu)
c.1658C>A (p.Ala553Glu)
2g.120978522C=CA1283790679GLI2c.1406C= (p.Ala469=)
c.1457C= (p.Ala486=)
c.470C= (p.Ala157=)
c.*505C= (n.*505C=)
n.1431C=
c.*556C= (n.*556C=)
c.1439C= (p.Ala480=)
c.1316C= (p.Ala439=)
c.1262C= (p.Ala421=)
c.1082C= (p.Ala361=)
c.1031C= (p.Ala344=)
c.1709C= (p.Ala570=)
c.1358C= (p.Ala453=)
c.1658C= (p.Ala553=)
2g.120978522C>GCA348161565GLI2c.1406C>G (p.Ala469Gly)
c.1457C>G (p.Ala486Gly)
c.470C>G (p.Ala157Gly)
c.*505C>G (n.*505C>G)
n.1431C>G
c.*556C>G (n.*556C>G)
c.1439C>G (p.Ala480Gly)
c.1316C>G (p.Ala439Gly)
c.1262C>G (p.Ala421Gly)
c.1082C>G (p.Ala361Gly)
c.1031C>G (p.Ala344Gly)
c.1709C>G (p.Ala570Gly)
c.1358C>G (p.Ala453Gly)
c.1658C>G (p.Ala553Gly)
2g.120978522C>TCA1851908GLI2c.1406C>T (p.Ala469Val)
c.1457C>T (p.Ala486Val)
c.470C>T (p.Ala157Val)
c.*505C>T (n.*505C>T)
n.1431C>T
c.*556C>T (n.*556C>T)
c.1439C>T (p.Ala480Val)
c.1316C>T (p.Ala439Val)
c.1262C>T (p.Ala421Val)
c.1082C>T (p.Ala361Val)
c.1031C>T (p.Ala344Val)
c.1709C>T (p.Ala570Val)
c.1358C>T (p.Ala453Val)
c.1658C>T (p.Ala553Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.120978523G>ACA1851909GLI2c.1407G>A (p.Ala469=)
c.1458G>A (p.Ala486=)
c.471G>A (p.Ala157=)
c.*506G>A (n.*506G>A)
n.1432G>A
c.*557G>A (n.*557G>A)
c.1440G>A (p.Ala480=)
c.1317G>A (p.Ala439=)
c.1263G>A (p.Ala421=)
c.1083G>A (p.Ala361=)
c.1032G>A (p.Ala344=)
c.1710G>A (p.Ala570=)
c.1359G>A (p.Ala453=)
c.1659G>A (p.Ala553=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120978523G>CCA428229943GLI2c.1407G>C (p.Ala469=)
c.1458G>C (p.Ala486=)
c.471G>C (p.Ala157=)
c.*506G>C (n.*506G>C)
n.1432G>C
c.*557G>C (n.*557G>C)
c.1440G>C (p.Ala480=)
c.1317G>C (p.Ala439=)
c.1263G>C (p.Ala421=)
c.1083G>C (p.Ala361=)
c.1032G>C (p.Ala344=)
c.1710G>C (p.Ala570=)
c.1359G>C (p.Ala453=)
c.1659G>C (p.Ala553=)
2g.120978523G=CA1283790680GLI2c.1407G= (p.Ala469=)
c.1458G= (p.Ala486=)
c.471G= (p.Ala157=)
c.*506G= (n.*506G=)
n.1432G=
c.*557G= (n.*557G=)
c.1440G= (p.Ala480=)
c.1317G= (p.Ala439=)
c.1263G= (p.Ala421=)
c.1083G= (p.Ala361=)
c.1032G= (p.Ala344=)
c.1710G= (p.Ala570=)
c.1359G= (p.Ala453=)
c.1659G= (p.Ala553=)
2g.120978523G>TCA428229942GLI2c.1407G>T (p.Ala469=)
c.1458G>T (p.Ala486=)
c.471G>T (p.Ala157=)
c.*506G>T (n.*506G>T)
n.1432G>T
c.*557G>T (n.*557G>T)
c.1440G>T (p.Ala480=)
c.1317G>T (p.Ala439=)
c.1263G>T (p.Ala421=)
c.1083G>T (p.Ala361=)
c.1032G>T (p.Ala344=)
c.1710G>T (p.Ala570=)
c.1359G>T (p.Ala453=)
c.1659G>T (p.Ala553=)
2g.120978524C>ACA348161566GLI2c.1408C>A (p.Gln470Lys)
c.1459C>A (p.Gln487Lys)
c.472C>A (p.Gln158Lys)
c.*507C>A (n.*507C>A)
n.1433C>A
c.*558C>A (n.*558C>A)
c.1441C>A (p.Gln481Lys)
c.1318C>A (p.Gln440Lys)
c.1264C>A (p.Gln422Lys)
c.1084C>A (p.Gln362Lys)
c.1033C>A (p.Gln345Lys)
c.1711C>A (p.Gln571Lys)
c.1360C>A (p.Gln454Lys)
c.1660C>A (p.Gln554Lys)
2g.120978524C>GCA348161567GLI2c.1408C>G (p.Gln470Glu)
c.1459C>G (p.Gln487Glu)
c.472C>G (p.Gln158Glu)
c.*507C>G (n.*507C>G)
n.1433C>G
c.*558C>G (n.*558C>G)
c.1441C>G (p.Gln481Glu)
c.1318C>G (p.Gln440Glu)
c.1264C>G (p.Gln422Glu)
c.1084C>G (p.Gln362Glu)
c.1033C>G (p.Gln345Glu)
c.1711C>G (p.Gln571Glu)
c.1360C>G (p.Gln454Glu)
c.1660C>G (p.Gln554Glu)
2g.120978524C>TCA348161568GLI2c.1408C>T (p.Gln470Ter)
c.1459C>T (p.Gln487Ter)
c.472C>T (p.Gln158Ter)
c.*507C>T (n.*507C>T)
n.1433C>T
c.*558C>T (n.*558C>T)
c.1441C>T (p.Gln481Ter)
c.1318C>T (p.Gln440Ter)
c.1264C>T (p.Gln422Ter)
c.1084C>T (p.Gln362Ter)
c.1033C>T (p.Gln345Ter)
c.1711C>T (p.Gln571Ter)
c.1360C>T (p.Gln454Ter)
c.1660C>T (p.Gln554Ter)
2g.120978525A>CCA348161569GLI2c.1409A>C (p.Gln470Pro)
c.1460A>C (p.Gln487Pro)
c.473A>C (p.Gln158Pro)
c.*508A>C (n.*508A>C)
n.1434A>C
c.*559A>C (n.*559A>C)
c.1442A>C (p.Gln481Pro)
c.1319A>C (p.Gln440Pro)
c.1265A>C (p.Gln422Pro)
c.1085A>C (p.Gln362Pro)
c.1034A>C (p.Gln345Pro)
c.1712A>C (p.Gln571Pro)
c.1361A>C (p.Gln454Pro)
c.1661A>C (p.Gln554Pro)
 gnomAD v4
2g.120978525A>GCA348161570GLI2c.1409A>G (p.Gln470Arg)
c.1460A>G (p.Gln487Arg)
c.473A>G (p.Gln158Arg)
c.*508A>G (n.*508A>G)
n.1434A>G
c.*559A>G (n.*559A>G)
c.1442A>G (p.Gln481Arg)
c.1319A>G (p.Gln440Arg)
c.1265A>G (p.Gln422Arg)
c.1085A>G (p.Gln362Arg)
c.1034A>G (p.Gln345Arg)
c.1712A>G (p.Gln571Arg)
c.1361A>G (p.Gln454Arg)
c.1661A>G (p.Gln554Arg)
2g.120978525A>TCA348161571GLI2c.1409A>T (p.Gln470Leu)
c.1460A>T (p.Gln487Leu)
c.473A>T (p.Gln158Leu)
c.*508A>T (n.*508A>T)
n.1434A>T
c.*559A>T (n.*559A>T)
c.1442A>T (p.Gln481Leu)
c.1319A>T (p.Gln440Leu)
c.1265A>T (p.Gln422Leu)
c.1085A>T (p.Gln362Leu)
c.1034A>T (p.Gln345Leu)
c.1712A>T (p.Gln571Leu)
c.1361A>T (p.Gln454Leu)
c.1661A>T (p.Gln554Leu)
 gnomAD v4
2g.120978526G>ACA428229944GLI2c.1410G>A (p.Gln470=)
c.1461G>A (p.Gln487=)
c.474G>A (p.Gln158=)
c.*509G>A (n.*509G>A)
n.1435G>A
c.*560G>A (n.*560G>A)
c.1443G>A (p.Gln481=)
c.1320G>A (p.Gln440=)
c.1266G>A (p.Gln422=)
c.1086G>A (p.Gln362=)
c.1035G>A (p.Gln345=)
c.1713G>A (p.Gln571=)
c.1362G>A (p.Gln454=)
c.1662G>A (p.Gln554=)
 dbSNP
2g.120978526G>CCA348161573GLI2c.1410G>C (p.Gln470His)
c.1461G>C (p.Gln487His)
c.474G>C (p.Gln158His)
c.*509G>C (n.*509G>C)
n.1435G>C
c.*560G>C (n.*560G>C)
c.1443G>C (p.Gln481His)
c.1320G>C (p.Gln440His)
c.1266G>C (p.Gln422His)
c.1086G>C (p.Gln362His)
c.1035G>C (p.Gln345His)
c.1713G>C (p.Gln571His)
c.1362G>C (p.Gln454His)
c.1662G>C (p.Gln554His)
2g.120978526G>TCA348161572GLI2c.1410G>T (p.Gln470His)
c.1461G>T (p.Gln487His)
c.474G>T (p.Gln158His)
c.*509G>T (n.*509G>T)
n.1435G>T
c.*560G>T (n.*560G>T)
c.1443G>T (p.Gln481His)
c.1320G>T (p.Gln440His)
c.1266G>T (p.Gln422His)
c.1086G>T (p.Gln362His)
c.1035G>T (p.Gln345His)
c.1713G>T (p.Gln571His)
c.1362G>T (p.Gln454His)
c.1662G>T (p.Gln554His)
2g.120978527T>ACA348161574GLI2c.1411T>A (p.Tyr471Asn)
c.1462T>A (p.Tyr488Asn)
c.475T>A (p.Tyr159Asn)
c.*510T>A (n.*510T>A)
n.1436T>A
c.*561T>A (n.*561T>A)
c.1444T>A (p.Tyr482Asn)
c.1321T>A (p.Tyr441Asn)
c.1267T>A (p.Tyr423Asn)
c.1087T>A (p.Tyr363Asn)
c.1036T>A (p.Tyr346Asn)
c.1714T>A (p.Tyr572Asn)
c.1363T>A (p.Tyr455Asn)
c.1663T>A (p.Tyr555Asn)
2g.120978527T>CCA348161575GLI2c.1411T>C (p.Tyr471His)
c.1462T>C (p.Tyr488His)
c.475T>C (p.Tyr159His)
c.*510T>C (n.*510T>C)
n.1436T>C
c.*561T>C (n.*561T>C)
c.1444T>C (p.Tyr482His)
c.1321T>C (p.Tyr441His)
c.1267T>C (p.Tyr423His)
c.1087T>C (p.Tyr363His)
c.1036T>C (p.Tyr346His)
c.1714T>C (p.Tyr572His)
c.1363T>C (p.Tyr455His)
c.1663T>C (p.Tyr555His)
2g.120978527T>GCA348161576GLI2c.1411T>G (p.Tyr471Asp)
c.1462T>G (p.Tyr488Asp)
c.475T>G (p.Tyr159Asp)
c.*510T>G (n.*510T>G)
n.1436T>G
c.*561T>G (n.*561T>G)
c.1444T>G (p.Tyr482Asp)
c.1321T>G (p.Tyr441Asp)
c.1267T>G (p.Tyr423Asp)
c.1087T>G (p.Tyr363Asp)
c.1036T>G (p.Tyr346Asp)
c.1714T>G (p.Tyr572Asp)
c.1363T>G (p.Tyr455Asp)
c.1663T>G (p.Tyr555Asp)
2g.120978528A>CCA348161577GLI2c.1412A>C (p.Tyr471Ser)
c.1463A>C (p.Tyr488Ser)
c.476A>C (p.Tyr159Ser)
c.*511A>C (n.*511A>C)
n.1437A>C
c.*562A>C (n.*562A>C)
c.1445A>C (p.Tyr482Ser)
c.1322A>C (p.Tyr441Ser)
c.1268A>C (p.Tyr423Ser)
c.1088A>C (p.Tyr363Ser)
c.1037A>C (p.Tyr346Ser)
c.1715A>C (p.Tyr572Ser)
c.1364A>C (p.Tyr455Ser)
c.1664A>C (p.Tyr555Ser)
2g.120978528A>GCA348161578GLI2c.1412A>G (p.Tyr471Cys)
c.1463A>G (p.Tyr488Cys)
c.476A>G (p.Tyr159Cys)
c.*511A>G (n.*511A>G)
n.1437A>G
c.*562A>G (n.*562A>G)
c.1445A>G (p.Tyr482Cys)
c.1322A>G (p.Tyr441Cys)
c.1268A>G (p.Tyr423Cys)
c.1088A>G (p.Tyr363Cys)
c.1037A>G (p.Tyr346Cys)
c.1715A>G (p.Tyr572Cys)
c.1364A>G (p.Tyr455Cys)
c.1664A>G (p.Tyr555Cys)
2g.120978528A>TCA348161579GLI2c.1412A>T (p.Tyr471Phe)
c.1463A>T (p.Tyr488Phe)
c.476A>T (p.Tyr159Phe)
c.*511A>T (n.*511A>T)
n.1437A>T
c.*562A>T (n.*562A>T)
c.1445A>T (p.Tyr482Phe)
c.1322A>T (p.Tyr441Phe)
c.1268A>T (p.Tyr423Phe)
c.1088A>T (p.Tyr363Phe)
c.1037A>T (p.Tyr346Phe)
c.1715A>T (p.Tyr572Phe)
c.1364A>T (p.Tyr455Phe)
c.1664A>T (p.Tyr555Phe)
2g.120978529C>ACA348161581GLI2c.1413C>A (p.Tyr471Ter)
c.1464C>A (p.Tyr488Ter)
c.477C>A (p.Tyr159Ter)
c.*512C>A (n.*512C>A)
n.1438C>A
c.*563C>A (n.*563C>A)
c.1446C>A (p.Tyr482Ter)
c.1323C>A (p.Tyr441Ter)
c.1269C>A (p.Tyr423Ter)
c.1089C>A (p.Tyr363Ter)
c.1038C>A (p.Tyr346Ter)
c.1716C>A (p.Tyr572Ter)
c.1365C>A (p.Tyr455Ter)
c.1665C>A (p.Tyr555Ter)
2g.120978529C=CA1283790681GLI2c.1413C= (p.Tyr471=)
c.1464C= (p.Tyr488=)
c.477C= (p.Tyr159=)
c.*512C= (n.*512C=)
n.1438C=
c.*563C= (n.*563C=)
c.1446C= (p.Tyr482=)
c.1323C= (p.Tyr441=)
c.1269C= (p.Tyr423=)
c.1089C= (p.Tyr363=)
c.1038C= (p.Tyr346=)
c.1716C= (p.Tyr572=)
c.1365C= (p.Tyr455=)
c.1665C= (p.Tyr555=)
2g.120978529C>GCA348161580GLI2c.1413C>G (p.Tyr471Ter)
c.1464C>G (p.Tyr488Ter)
c.477C>G (p.Tyr159Ter)
c.*512C>G (n.*512C>G)
n.1438C>G
c.*563C>G (n.*563C>G)
c.1446C>G (p.Tyr482Ter)
c.1323C>G (p.Tyr441Ter)
c.1269C>G (p.Tyr423Ter)
c.1089C>G (p.Tyr363Ter)
c.1038C>G (p.Tyr346Ter)
c.1716C>G (p.Tyr572Ter)
c.1365C>G (p.Tyr455Ter)
c.1665C>G (p.Tyr555Ter)
2g.120978529C>TCA428229945GLI2c.1413C>T (p.Tyr471=)
c.1464C>T (p.Tyr488=)
c.477C>T (p.Tyr159=)
c.*512C>T (n.*512C>T)
n.1438C>T
c.*563C>T (n.*563C>T)
c.1446C>T (p.Tyr482=)
c.1323C>T (p.Tyr441=)
c.1269C>T (p.Tyr423=)
c.1089C>T (p.Tyr363=)
c.1038C>T (p.Tyr346=)
c.1716C>T (p.Tyr572=)
c.1365C>T (p.Tyr455=)
c.1665C>T (p.Tyr555=)
 dbSNP gnomAD v3 gnomAD v4
2g.120978530A>CCA348161582GLI2c.1414A>C (p.Met472Leu)
c.1465A>C (p.Met489Leu)
c.478A>C (p.Met160Leu)
c.*513A>C (n.*513A>C)
n.1439A>C
c.*564A>C (n.*564A>C)
c.1447A>C (p.Met483Leu)
c.1324A>C (p.Met442Leu)
c.1270A>C (p.Met424Leu)
c.1090A>C (p.Met364Leu)
c.1039A>C (p.Met347Leu)
c.1717A>C (p.Met573Leu)
c.1366A>C (p.Met456Leu)
c.1666A>C (p.Met556Leu)
2g.120978530A>GCA348161583GLI2c.1414A>G (p.Met472Val)
c.1465A>G (p.Met489Val)
c.478A>G (p.Met160Val)
c.*513A>G (n.*513A>G)
n.1439A>G
c.*564A>G (n.*564A>G)
c.1447A>G (p.Met483Val)
c.1324A>G (p.Met442Val)
c.1270A>G (p.Met424Val)
c.1090A>G (p.Met364Val)
c.1039A>G (p.Met347Val)
c.1717A>G (p.Met573Val)
c.1366A>G (p.Met456Val)
c.1666A>G (p.Met556Val)
2g.120978530A>TCA348161584GLI2c.1414A>T (p.Met472Leu)
c.1465A>T (p.Met489Leu)
c.478A>T (p.Met160Leu)
c.*513A>T (n.*513A>T)
n.1439A>T
c.*564A>T (n.*564A>T)
c.1447A>T (p.Met483Leu)
c.1324A>T (p.Met442Leu)
c.1270A>T (p.Met424Leu)
c.1090A>T (p.Met364Leu)
c.1039A>T (p.Met347Leu)
c.1717A>T (p.Met573Leu)
c.1366A>T (p.Met456Leu)
c.1666A>T (p.Met556Leu)
2g.120978531T>ACA348161585GLI2c.1415T>A (p.Met472Lys)
c.1466T>A (p.Met489Lys)
c.479T>A (p.Met160Lys)
c.*514T>A (n.*514T>A)
n.1440T>A
c.*565T>A (n.*565T>A)
c.1448T>A (p.Met483Lys)
c.1325T>A (p.Met442Lys)
c.1271T>A (p.Met424Lys)
c.1091T>A (p.Met364Lys)
c.1040T>A (p.Met347Lys)
c.1718T>A (p.Met573Lys)
c.1367T>A (p.Met456Lys)
c.1667T>A (p.Met556Lys)
2g.120978531T>CCA348161586GLI2c.1415T>C (p.Met472Thr)
c.1466T>C (p.Met489Thr)
c.479T>C (p.Met160Thr)
c.*514T>C (n.*514T>C)
n.1440T>C
c.*565T>C (n.*565T>C)
c.1448T>C (p.Met483Thr)
c.1325T>C (p.Met442Thr)
c.1271T>C (p.Met424Thr)
c.1091T>C (p.Met364Thr)
c.1040T>C (p.Met347Thr)
c.1718T>C (p.Met573Thr)
c.1367T>C (p.Met456Thr)
c.1667T>C (p.Met556Thr)
2g.120978531T>GCA348161587GLI2c.1415T>G (p.Met472Arg)
c.1466T>G (p.Met489Arg)
c.479T>G (p.Met160Arg)
c.*514T>G (n.*514T>G)
n.1440T>G
c.*565T>G (n.*565T>G)
c.1448T>G (p.Met483Arg)
c.1325T>G (p.Met442Arg)
c.1271T>G (p.Met424Arg)
c.1091T>G (p.Met364Arg)
c.1040T>G (p.Met347Arg)
c.1718T>G (p.Met573Arg)
c.1367T>G (p.Met456Arg)
c.1667T>G (p.Met556Arg)
2g.120978532G>ACA348161590GLI2c.1416G>A (p.Met472Ile)
c.1467G>A (p.Met489Ile)
c.480G>A (p.Met160Ile)
c.*515G>A (n.*515G>A)
n.1441G>A
c.*566G>A (n.*566G>A)
c.1449G>A (p.Met483Ile)
c.1326G>A (p.Met442Ile)
c.1272G>A (p.Met424Ile)
c.1092G>A (p.Met364Ile)
c.1041G>A (p.Met347Ile)
c.1719G>A (p.Met573Ile)
c.1368G>A (p.Met456Ile)
c.1668G>A (p.Met556Ile)
 gnomAD v4
2g.120978532G>CCA348161588GLI2c.1416G>C (p.Met472Ile)
c.1467G>C (p.Met489Ile)
c.480G>C (p.Met160Ile)
c.*515G>C (n.*515G>C)
n.1441G>C
c.*566G>C (n.*566G>C)
c.1449G>C (p.Met483Ile)
c.1326G>C (p.Met442Ile)
c.1272G>C (p.Met424Ile)
c.1092G>C (p.Met364Ile)
c.1041G>C (p.Met347Ile)
c.1719G>C (p.Met573Ile)
c.1368G>C (p.Met456Ile)
c.1668G>C (p.Met556Ile)
2g.120978532G>TCA348161589GLI2c.1416G>T (p.Met472Ile)
c.1467G>T (p.Met489Ile)
c.480G>T (p.Met160Ile)
c.*515G>T (n.*515G>T)
n.1441G>T
c.*566G>T (n.*566G>T)
c.1449G>T (p.Met483Ile)
c.1326G>T (p.Met442Ile)
c.1272G>T (p.Met424Ile)
c.1092G>T (p.Met364Ile)
c.1041G>T (p.Met347Ile)
c.1719G>T (p.Met573Ile)
c.1368G>T (p.Met456Ile)
c.1668G>T (p.Met556Ile)
2g.120978533C>ACA348161591GLI2c.1417C>A (p.Leu473Met)
c.1468C>A (p.Leu490Met)
c.481C>A (p.Leu161Met)
c.*516C>A (n.*516C>A)
n.1442C>A
c.*567C>A (n.*567C>A)
c.1450C>A (p.Leu484Met)
c.1327C>A (p.Leu443Met)
c.1273C>A (p.Leu425Met)
c.1093C>A (p.Leu365Met)
c.1042C>A (p.Leu348Met)
c.1720C>A (p.Leu574Met)
c.1369C>A (p.Leu457Met)
c.1669C>A (p.Leu557Met)
2g.120978533C=CA1283790682GLI2c.1417C= (p.Leu473=)
c.1468C= (p.Leu490=)
c.481C= (p.Leu161=)
c.*516C= (n.*516C=)
n.1442C=
c.*567C= (n.*567C=)
c.1450C= (p.Leu484=)
c.1327C= (p.Leu443=)
c.1273C= (p.Leu425=)
c.1093C= (p.Leu365=)
c.1042C= (p.Leu348=)
c.1720C= (p.Leu574=)
c.1369C= (p.Leu457=)
c.1669C= (p.Leu557=)
2g.120978533C>GCA348161592GLI2c.1417C>G (p.Leu473Val)
c.1468C>G (p.Leu490Val)
c.481C>G (p.Leu161Val)
c.*516C>G (n.*516C>G)
n.1442C>G
c.*567C>G (n.*567C>G)
c.1450C>G (p.Leu484Val)
c.1327C>G (p.Leu443Val)
c.1273C>G (p.Leu425Val)
c.1093C>G (p.Leu365Val)
c.1042C>G (p.Leu348Val)
c.1720C>G (p.Leu574Val)
c.1369C>G (p.Leu457Val)
c.1669C>G (p.Leu557Val)
 dbSNP gnomAD v2 gnomAD v4
2g.120978533C>TCA1851910GLI2c.1417C>T (p.Leu473=)
c.1468C>T (p.Leu490=)
c.481C>T (p.Leu161=)
c.*516C>T (n.*516C>T)
n.1442C>T
c.*567C>T (n.*567C>T)
c.1450C>T (p.Leu484=)
c.1327C>T (p.Leu443=)
c.1273C>T (p.Leu425=)
c.1093C>T (p.Leu365=)
c.1042C>T (p.Leu348=)
c.1720C>T (p.Leu574=)
c.1369C>T (p.Leu457=)
c.1669C>T (p.Leu557=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.120978534T>ACA348161593GLI2c.1418T>A (p.Leu473Gln)
c.1469T>A (p.Leu490Gln)
c.482T>A (p.Leu161Gln)
c.*517T>A (n.*517T>A)
n.1443T>A
c.*568T>A (n.*568T>A)
c.1451T>A (p.Leu484Gln)
c.1328T>A (p.Leu443Gln)
c.1274T>A (p.Leu425Gln)
c.1094T>A (p.Leu365Gln)
c.1043T>A (p.Leu348Gln)
c.1721T>A (p.Leu574Gln)
c.1370T>A (p.Leu457Gln)
c.1670T>A (p.Leu557Gln)
2g.120978534T>CCA348161594GLI2c.1418T>C (p.Leu473Pro)
c.1469T>C (p.Leu490Pro)
c.482T>C (p.Leu161Pro)
c.*517T>C (n.*517T>C)
n.1443T>C
c.*568T>C (n.*568T>C)
c.1451T>C (p.Leu484Pro)
c.1328T>C (p.Leu443Pro)
c.1274T>C (p.Leu425Pro)
c.1094T>C (p.Leu365Pro)
c.1043T>C (p.Leu348Pro)
c.1721T>C (p.Leu574Pro)
c.1370T>C (p.Leu457Pro)
c.1670T>C (p.Leu557Pro)
2g.120978534T>GCA348161595GLI2c.1418T>G (p.Leu473Arg)
c.1469T>G (p.Leu490Arg)
c.482T>G (p.Leu161Arg)
c.*517T>G (n.*517T>G)
n.1443T>G
c.*568T>G (n.*568T>G)
c.1451T>G (p.Leu484Arg)
c.1328T>G (p.Leu443Arg)
c.1274T>G (p.Leu425Arg)
c.1094T>G (p.Leu365Arg)
c.1043T>G (p.Leu348Arg)
c.1721T>G (p.Leu574Arg)
c.1370T>G (p.Leu457Arg)
c.1670T>G (p.Leu557Arg)
2g.120978535G>ACA428229946GLI2c.1419G>A (p.Leu473=)
c.1470G>A (p.Leu490=)
c.483G>A (p.Leu161=)
c.*518G>A (n.*518G>A)
n.1444G>A
c.*569G>A (n.*569G>A)
c.1452G>A (p.Leu484=)
c.1329G>A (p.Leu443=)
c.1275G>A (p.Leu425=)
c.1095G>A (p.Leu365=)
c.1044G>A (p.Leu348=)
c.1722G>A (p.Leu574=)
c.1371G>A (p.Leu457=)
c.1671G>A (p.Leu557=)
2g.120978535G>CCA428229947GLI2c.1419G>C (p.Leu473=)
c.1470G>C (p.Leu490=)
c.483G>C (p.Leu161=)
c.*518G>C (n.*518G>C)
n.1444G>C
c.*569G>C (n.*569G>C)
c.1452G>C (p.Leu484=)
c.1329G>C (p.Leu443=)
c.1275G>C (p.Leu425=)
c.1095G>C (p.Leu365=)
c.1044G>C (p.Leu348=)
c.1722G>C (p.Leu574=)
c.1371G>C (p.Leu457=)
c.1671G>C (p.Leu557=)
 dbSNP
2g.120978535G=CA1283790683GLI2c.1419G= (p.Leu473=)
c.1470G= (p.Leu490=)
c.483G= (p.Leu161=)
c.*518G= (n.*518G=)
n.1444G=
c.*569G= (n.*569G=)
c.1452G= (p.Leu484=)
c.1329G= (p.Leu443=)
c.1275G= (p.Leu425=)
c.1095G= (p.Leu365=)
c.1044G= (p.Leu348=)
c.1722G= (p.Leu574=)
c.1371G= (p.Leu457=)
c.1671G= (p.Leu557=)
2g.120978535G>TCA428229948GLI2c.1419G>T (p.Leu473=)
c.1470G>T (p.Leu490=)
c.483G>T (p.Leu161=)
c.*518G>T (n.*518G>T)
n.1444G>T
c.*569G>T (n.*569G>T)
c.1452G>T (p.Leu484=)
c.1329G>T (p.Leu443=)
c.1275G>T (p.Leu425=)
c.1095G>T (p.Leu365=)
c.1044G>T (p.Leu348=)
c.1722G>T (p.Leu574=)
c.1371G>T (p.Leu457=)
c.1671G>T (p.Leu557=)
2g.120978536G>ACA348161596GLI2c.1420G>A (p.Val474Met)
c.1471G>A (p.Val491Met)
c.484G>A (p.Val162Met)
c.*519G>A (n.*519G>A)
n.1445G>A
c.*570G>A (n.*570G>A)
c.1453G>A (p.Val485Met)
c.1330G>A (p.Val444Met)
c.1276G>A (p.Val426Met)
c.1096G>A (p.Val366Met)
c.1045G>A (p.Val349Met)
c.1723G>A (p.Val575Met)
c.1372G>A (p.Val458Met)
c.1672G>A (p.Val558Met)
 gnomAD v4
2g.120978536G>CCA348161597GLI2c.1420G>C (p.Val474Leu)
c.1471G>C (p.Val491Leu)
c.484G>C (p.Val162Leu)
c.*519G>C (n.*519G>C)
n.1445G>C
c.*570G>C (n.*570G>C)
c.1453G>C (p.Val485Leu)
c.1330G>C (p.Val444Leu)
c.1276G>C (p.Val426Leu)
c.1096G>C (p.Val366Leu)
c.1045G>C (p.Val349Leu)
c.1723G>C (p.Val575Leu)
c.1372G>C (p.Val458Leu)
c.1672G>C (p.Val558Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.120978536G=CA1283790684GLI2c.1420G= (p.Val474=)
c.1471G= (p.Val491=)
c.484G= (p.Val162=)
c.*519G= (n.*519G=)
n.1445G=
c.*570G= (n.*570G=)
c.1453G= (p.Val485=)
c.1330G= (p.Val444=)
c.1276G= (p.Val426=)
c.1096G= (p.Val366=)
c.1045G= (p.Val349=)
c.1723G= (p.Val575=)
c.1372G= (p.Val458=)
c.1672G= (p.Val558=)
2g.120978536G>TCA348161598GLI2c.1420G>T (p.Val474Leu)
c.1471G>T (p.Val491Leu)
c.484G>T (p.Val162Leu)
c.*519G>T (n.*519G>T)
n.1445G>T
c.*570G>T (n.*570G>T)
c.1453G>T (p.Val485Leu)
c.1330G>T (p.Val444Leu)
c.1276G>T (p.Val426Leu)
c.1096G>T (p.Val366Leu)
c.1045G>T (p.Val349Leu)
c.1723G>T (p.Val575Leu)
c.1372G>T (p.Val458Leu)
c.1672G>T (p.Val558Leu)
2g.120978537T>ACA348161599GLI2c.1421T>A (p.Val474Glu)
c.1472T>A (p.Val491Glu)
c.485T>A (p.Val162Glu)
c.*520T>A (n.*520T>A)
n.1446T>A
c.*571T>A (n.*571T>A)
c.1454T>A (p.Val485Glu)
c.1331T>A (p.Val444Glu)
c.1277T>A (p.Val426Glu)
c.1097T>A (p.Val366Glu)
c.1046T>A (p.Val349Glu)
c.1724T>A (p.Val575Glu)
c.1373T>A (p.Val458Glu)
c.1673T>A (p.Val558Glu)
2g.120978537T>CCA348161600GLI2c.1421T>C (p.Val474Ala)
c.1472T>C (p.Val491Ala)
c.485T>C (p.Val162Ala)
c.*520T>C (n.*520T>C)
n.1446T>C
c.*571T>C (n.*571T>C)
c.1454T>C (p.Val485Ala)
c.1331T>C (p.Val444Ala)
c.1277T>C (p.Val426Ala)
c.1097T>C (p.Val366Ala)
c.1046T>C (p.Val349Ala)
c.1724T>C (p.Val575Ala)
c.1373T>C (p.Val458Ala)
c.1673T>C (p.Val558Ala)
2g.120978537T>GCA348161601GLI2c.1421T>G (p.Val474Gly)
c.1472T>G (p.Val491Gly)
c.485T>G (p.Val162Gly)
c.*520T>G (n.*520T>G)
n.1446T>G
c.*571T>G (n.*571T>G)
c.1454T>G (p.Val485Gly)
c.1331T>G (p.Val444Gly)
c.1277T>G (p.Val426Gly)
c.1097T>G (p.Val366Gly)
c.1046T>G (p.Val349Gly)
c.1724T>G (p.Val575Gly)
c.1373T>G (p.Val458Gly)
c.1673T>G (p.Val558Gly)
 gnomAD v4
2g.120978538G>ACA428229949GLI2c.1422G>A (p.Val474=)
c.1473G>A (p.Val491=)
c.486G>A (p.Val162=)
c.*521G>A (n.*521G>A)
n.1447G>A
c.*572G>A (n.*572G>A)
c.1455G>A (p.Val485=)
c.1332G>A (p.Val444=)
c.1278G>A (p.Val426=)
c.1098G>A (p.Val366=)
c.1047G>A (p.Val349=)
c.1725G>A (p.Val575=)
c.1374G>A (p.Val458=)
c.1674G>A (p.Val558=)
2g.120978538G>CCA428229950GLI2c.1422G>C (p.Val474=)
c.1473G>C (p.Val491=)
c.486G>C (p.Val162=)
c.*521G>C (n.*521G>C)
n.1447G>C
c.*572G>C (n.*572G>C)
c.1455G>C (p.Val485=)
c.1332G>C (p.Val444=)
c.1278G>C (p.Val426=)
c.1098G>C (p.Val366=)
c.1047G>C (p.Val349=)
c.1725G>C (p.Val575=)
c.1374G>C (p.Val458=)
c.1674G>C (p.Val558=)
2g.120978538G>TCA428229951GLI2c.1422G>T (p.Val474=)
c.1473G>T (p.Val491=)
c.486G>T (p.Val162=)
c.*521G>T (n.*521G>T)
n.1447G>T
c.*572G>T (n.*572G>T)
c.1455G>T (p.Val485=)
c.1332G>T (p.Val444=)
c.1278G>T (p.Val426=)
c.1098G>T (p.Val366=)
c.1047G>T (p.Val349=)
c.1725G>T (p.Val575=)
c.1374G>T (p.Val458=)
c.1674G>T (p.Val558=)
2g.120978539G>ACA348161602GLI2c.1423G>A (p.Val475Met)
c.1474G>A (p.Val492Met)
c.487G>A (p.Val163Met)
c.*522G>A (n.*522G>A)
n.1448G>A
c.*573G>A (n.*573G>A)
c.1456G>A (p.Val486Met)
c.1333G>A (p.Val445Met)
c.1279G>A (p.Val427Met)
c.1099G>A (p.Val367Met)
c.1048G>A (p.Val350Met)
c.1726G>A (p.Val576Met)
c.1375G>A (p.Val459Met)
c.1675G>A (p.Val559Met)
 gnomAD v4
2g.120978539G>CCA348161604GLI2c.1423G>C (p.Val475Leu)
c.1474G>C (p.Val492Leu)
c.487G>C (p.Val163Leu)
c.*522G>C (n.*522G>C)
n.1448G>C
c.*573G>C (n.*573G>C)
c.1456G>C (p.Val486Leu)
c.1333G>C (p.Val445Leu)
c.1279G>C (p.Val427Leu)
c.1099G>C (p.Val367Leu)
c.1048G>C (p.Val350Leu)
c.1726G>C (p.Val576Leu)
c.1375G>C (p.Val459Leu)
c.1675G>C (p.Val559Leu)
2g.120978539G>TCA348161603GLI2c.1423G>T (p.Val475Leu)
c.1474G>T (p.Val492Leu)
c.487G>T (p.Val163Leu)
c.*522G>T (n.*522G>T)
n.1448G>T
c.*573G>T (n.*573G>T)
c.1456G>T (p.Val486Leu)
c.1333G>T (p.Val445Leu)
c.1279G>T (p.Val427Leu)
c.1099G>T (p.Val367Leu)
c.1048G>T (p.Val350Leu)
c.1726G>T (p.Val576Leu)
c.1375G>T (p.Val459Leu)
c.1675G>T (p.Val559Leu)
2g.120978540T>ACA348161605GLI2c.1424T>A (p.Val475Glu)
c.1475T>A (p.Val492Glu)
c.488T>A (p.Val163Glu)
c.*523T>A (n.*523T>A)
n.1449T>A
c.*574T>A (n.*574T>A)
c.1457T>A (p.Val486Glu)
c.1334T>A (p.Val445Glu)
c.1280T>A (p.Val427Glu)
c.1100T>A (p.Val367Glu)
c.1049T>A (p.Val350Glu)
c.1727T>A (p.Val576Glu)
c.1376T>A (p.Val459Glu)
c.1676T>A (p.Val559Glu)
2g.120978540T>CCA348161607GLI2c.1424T>C (p.Val475Ala)
c.1475T>C (p.Val492Ala)
c.488T>C (p.Val163Ala)
c.*523T>C (n.*523T>C)
n.1449T>C
c.*574T>C (n.*574T>C)
c.1457T>C (p.Val486Ala)
c.1334T>C (p.Val445Ala)
c.1280T>C (p.Val427Ala)
c.1100T>C (p.Val367Ala)
c.1049T>C (p.Val350Ala)
c.1727T>C (p.Val576Ala)
c.1376T>C (p.Val459Ala)
c.1676T>C (p.Val559Ala)
 gnomAD v4
2g.120978540T>GCA348161606GLI2c.1424T>G (p.Val475Gly)
c.1475T>G (p.Val492Gly)
c.488T>G (p.Val163Gly)
c.*523T>G (n.*523T>G)
n.1449T>G
c.*574T>G (n.*574T>G)
c.1457T>G (p.Val486Gly)
c.1334T>G (p.Val445Gly)
c.1280T>G (p.Val427Gly)
c.1100T>G (p.Val367Gly)
c.1049T>G (p.Val350Gly)
c.1727T>G (p.Val576Gly)
c.1376T>G (p.Val459Gly)
c.1676T>G (p.Val559Gly)
 dbSNP
2g.120978540T=CA1283790685GLI2c.1424T= (p.Val475=)
c.1475T= (p.Val492=)
c.488T= (p.Val163=)
c.*523T= (n.*523T=)
n.1449T=
c.*574T= (n.*574T=)
c.1457T= (p.Val486=)
c.1334T= (p.Val445=)
c.1280T= (p.Val427=)
c.1100T= (p.Val367=)
c.1049T= (p.Val350=)
c.1727T= (p.Val576=)
c.1376T= (p.Val459=)
c.1676T= (p.Val559=)
2g.120978541G>ACA428229952GLI2c.1425G>A (p.Val475=)
c.1476G>A (p.Val492=)
c.489G>A (p.Val163=)
c.*524G>A (n.*524G>A)
n.1450G>A
c.*575G>A (n.*575G>A)
c.1458G>A (p.Val486=)
c.1335G>A (p.Val445=)
c.1281G>A (p.Val427=)
c.1101G>A (p.Val367=)
c.1050G>A (p.Val350=)
c.1728G>A (p.Val576=)
c.1377G>A (p.Val459=)
c.1677G>A (p.Val559=)
 dbSNP gnomAD v4
2g.120978541G>CCA428229953GLI2c.1425G>C (p.Val475=)
c.1476G>C (p.Val492=)
c.489G>C (p.Val163=)
c.*524G>C (n.*524G>C)
n.1450G>C
c.*575G>C (n.*575G>C)
c.1458G>C (p.Val486=)
c.1335G>C (p.Val445=)
c.1281G>C (p.Val427=)
c.1101G>C (p.Val367=)
c.1050G>C (p.Val350=)
c.1728G>C (p.Val576=)
c.1377G>C (p.Val459=)
c.1677G>C (p.Val559=)
2g.120978541G>TCA428229954GLI2c.1425G>T (p.Val475=)
c.1476G>T (p.Val492=)
c.489G>T (p.Val163=)
c.*524G>T (n.*524G>T)
n.1450G>T
c.*575G>T (n.*575G>T)
c.1458G>T (p.Val486=)
c.1335G>T (p.Val445=)
c.1281G>T (p.Val427=)
c.1101G>T (p.Val367=)
c.1050G>T (p.Val350=)
c.1728G>T (p.Val576=)
c.1377G>T (p.Val459=)
c.1677G>T (p.Val559=)
2g.120978542C>ACA348161608GLI2c.1426C>A (p.His476Asn)
c.1477C>A (p.His493Asn)
c.490C>A (p.His164Asn)
c.*525C>A (n.*525C>A)
n.1451C>A
c.*576C>A (n.*576C>A)
c.1459C>A (p.His487Asn)
c.1336C>A (p.His446Asn)
c.1282C>A (p.His428Asn)
c.1102C>A (p.His368Asn)
c.1051C>A (p.His351Asn)
c.1729C>A (p.His577Asn)
c.1378C>A (p.His460Asn)
c.1678C>A (p.His560Asn)
2g.120978542C>GCA348161609GLI2c.1426C>G (p.His476Asp)
c.1477C>G (p.His493Asp)
c.490C>G (p.His164Asp)
c.*525C>G (n.*525C>G)
n.1451C>G
c.*576C>G (n.*576C>G)
c.1459C>G (p.His487Asp)
c.1336C>G (p.His446Asp)
c.1282C>G (p.His428Asp)
c.1102C>G (p.His368Asp)
c.1051C>G (p.His351Asp)
c.1729C>G (p.His577Asp)
c.1378C>G (p.His460Asp)
c.1678C>G (p.His560Asp)
2g.120978542C>TCA348161610GLI2c.1426C>T (p.His476Tyr)
c.1477C>T (p.His493Tyr)
c.490C>T (p.His164Tyr)
c.*525C>T (n.*525C>T)
n.1451C>T
c.*576C>T (n.*576C>T)
c.1459C>T (p.His487Tyr)
c.1336C>T (p.His446Tyr)
c.1282C>T (p.His428Tyr)
c.1102C>T (p.His368Tyr)
c.1051C>T (p.His351Tyr)
c.1729C>T (p.His577Tyr)
c.1378C>T (p.His460Tyr)
c.1678C>T (p.His560Tyr)
2g.120978543A>CCA348161611GLI2c.1427A>C (p.His476Pro)
c.1478A>C (p.His493Pro)
c.491A>C (p.His164Pro)
c.*526A>C (n.*526A>C)
n.1452A>C
c.*577A>C (n.*577A>C)
c.1460A>C (p.His487Pro)
c.1337A>C (p.His446Pro)
c.1283A>C (p.His428Pro)
c.1103A>C (p.His368Pro)
c.1052A>C (p.His351Pro)
c.1730A>C (p.His577Pro)
c.1379A>C (p.His460Pro)
c.1679A>C (p.His560Pro)
2g.120978543A>GCA348161612GLI2c.1427A>G (p.His476Arg)
c.1478A>G (p.His493Arg)
c.491A>G (p.His164Arg)
c.*526A>G (n.*526A>G)
n.1452A>G
c.*577A>G (n.*577A>G)
c.1460A>G (p.His487Arg)
c.1337A>G (p.His446Arg)
c.1283A>G (p.His428Arg)
c.1103A>G (p.His368Arg)
c.1052A>G (p.His351Arg)
c.1730A>G (p.His577Arg)
c.1379A>G (p.His460Arg)
c.1679A>G (p.His560Arg)
 ClinVar
2g.120978543A>TCA348161613GLI2c.1427A>T (p.His476Leu)
c.1478A>T (p.His493Leu)
c.491A>T (p.His164Leu)
c.*526A>T (n.*526A>T)
n.1452A>T
c.*577A>T (n.*577A>T)
c.1460A>T (p.His487Leu)
c.1337A>T (p.His446Leu)
c.1283A>T (p.His428Leu)
c.1103A>T (p.His368Leu)
c.1052A>T (p.His351Leu)
c.1730A>T (p.His577Leu)
c.1379A>T (p.His460Leu)
c.1679A>T (p.His560Leu)
2g.120978544C>ACA348161614GLI2c.1428C>A (p.His476Gln)
c.1479C>A (p.His493Gln)
c.492C>A (p.His164Gln)
c.*527C>A (n.*527C>A)
n.1453C>A
c.*578C>A (n.*578C>A)
c.1461C>A (p.His487Gln)
c.1338C>A (p.His446Gln)
c.1284C>A (p.His428Gln)
c.1104C>A (p.His368Gln)
c.1053C>A (p.His351Gln)
c.1731C>A (p.His577Gln)
c.1380C>A (p.His460Gln)
c.1680C>A (p.His560Gln)
2g.120978544C=CA1283790686GLI2c.1428C= (p.His476=)
c.1479C= (p.His493=)
c.492C= (p.His164=)
c.*527C= (n.*527C=)
n.1453C=
c.*578C= (n.*578C=)
c.1461C= (p.His487=)
c.1338C= (p.His446=)
c.1284C= (p.His428=)
c.1104C= (p.His368=)
c.1053C= (p.His351=)
c.1731C= (p.His577=)
c.1380C= (p.His460=)
c.1680C= (p.His560=)
2g.120978544C>GCA348161615GLI2c.1428C>G (p.His476Gln)
c.1479C>G (p.His493Gln)
c.492C>G (p.His164Gln)
c.*527C>G (n.*527C>G)
n.1453C>G
c.*578C>G (n.*578C>G)
c.1461C>G (p.His487Gln)
c.1338C>G (p.His446Gln)
c.1284C>G (p.His428Gln)
c.1104C>G (p.His368Gln)
c.1053C>G (p.His351Gln)
c.1731C>G (p.His577Gln)
c.1380C>G (p.His460Gln)
c.1680C>G (p.His560Gln)
2g.120978544C>TCA1851911GLI2c.1428C>T (p.His476=)
c.1479C>T (p.His493=)
c.492C>T (p.His164=)
c.*527C>T (n.*527C>T)
n.1453C>T
c.*578C>T (n.*578C>T)
c.1461C>T (p.His487=)
c.1338C>T (p.His446=)
c.1284C>T (p.His428=)
c.1104C>T (p.His368=)
c.1053C>T (p.His351=)
c.1731C>T (p.His577=)
c.1380C>T (p.His460=)
c.1680C>T (p.His560=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.120978545A=CA1283790687GLI2c.1429A= (p.Met477=)
c.1480A= (p.Met494=)
c.493A= (p.Met165=)
c.*528A= (n.*528A=)
n.1454A=
c.*579A= (n.*579A=)
c.1462A= (p.Met488=)
c.1339A= (p.Met447=)
c.1285A= (p.Met429=)
c.1105A= (p.Met369=)
c.1054A= (p.Met352=)
c.1732A= (p.Met578=)
c.1381A= (p.Met461=)
c.1681A= (p.Met561=)
2g.120978545A>CCA348161616GLI2c.1429A>C (p.Met477Leu)
c.1480A>C (p.Met494Leu)
c.493A>C (p.Met165Leu)
c.*528A>C (n.*528A>C)
n.1454A>C
c.*579A>C (n.*579A>C)
c.1462A>C (p.Met488Leu)
c.1339A>C (p.Met447Leu)
c.1285A>C (p.Met429Leu)
c.1105A>C (p.Met369Leu)
c.1054A>C (p.Met352Leu)
c.1732A>C (p.Met578Leu)
c.1381A>C (p.Met461Leu)
c.1681A>C (p.Met561Leu)
2g.120978545A>GCA1851912GLI2c.1429A>G (p.Met477Val)
c.1480A>G (p.Met494Val)
c.493A>G (p.Met165Val)
c.*528A>G (n.*528A>G)
n.1454A>G
c.*579A>G (n.*579A>G)
c.1462A>G (p.Met488Val)
c.1339A>G (p.Met447Val)
c.1285A>G (p.Met429Val)
c.1105A>G (p.Met369Val)
c.1054A>G (p.Met352Val)
c.1732A>G (p.Met578Val)
c.1381A>G (p.Met461Val)
c.1681A>G (p.Met561Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120978545A>TCA348161617GLI2c.1429A>T (p.Met477Leu)
c.1480A>T (p.Met494Leu)
c.493A>T (p.Met165Leu)
c.*528A>T (n.*528A>T)
n.1454A>T
c.*579A>T (n.*579A>T)
c.1462A>T (p.Met488Leu)
c.1339A>T (p.Met447Leu)
c.1285A>T (p.Met429Leu)
c.1105A>T (p.Met369Leu)
c.1054A>T (p.Met352Leu)
c.1732A>T (p.Met578Leu)
c.1381A>T (p.Met461Leu)
c.1681A>T (p.Met561Leu)
2g.120978546T>ACA348161620GLI2c.1430T>A (p.Met477Lys)
c.1481T>A (p.Met494Lys)
c.494T>A (p.Met165Lys)
c.*529T>A (n.*529T>A)
n.1455T>A
c.*580T>A (n.*580T>A)
c.1463T>A (p.Met488Lys)
c.1340T>A (p.Met447Lys)
c.1286T>A (p.Met429Lys)
c.1106T>A (p.Met369Lys)
c.1055T>A (p.Met352Lys)
c.1733T>A (p.Met578Lys)
c.1382T>A (p.Met461Lys)
c.1682T>A (p.Met561Lys)
2g.120978546T>CCA348161618GLI2c.1430T>C (p.Met477Thr)
c.1481T>C (p.Met494Thr)
c.494T>C (p.Met165Thr)
c.*529T>C (n.*529T>C)
n.1455T>C
c.*580T>C (n.*580T>C)
c.1463T>C (p.Met488Thr)
c.1340T>C (p.Met447Thr)
c.1286T>C (p.Met429Thr)
c.1106T>C (p.Met369Thr)
c.1055T>C (p.Met352Thr)
c.1733T>C (p.Met578Thr)
c.1382T>C (p.Met461Thr)
c.1682T>C (p.Met561Thr)
2g.120978546T>GCA348161619GLI2c.1430T>G (p.Met477Arg)
c.1481T>G (p.Met494Arg)
c.494T>G (p.Met165Arg)
c.*529T>G (n.*529T>G)
n.1455T>G
c.*580T>G (n.*580T>G)
c.1463T>G (p.Met488Arg)
c.1340T>G (p.Met447Arg)
c.1286T>G (p.Met429Arg)
c.1106T>G (p.Met369Arg)
c.1055T>G (p.Met352Arg)
c.1733T>G (p.Met578Arg)
c.1382T>G (p.Met461Arg)
c.1682T>G (p.Met561Arg)
2g.120978547G>ACA348161621GLI2c.1431G>A (p.Met477Ile)
c.1482G>A (p.Met494Ile)
c.495G>A (p.Met165Ile)
c.*530G>A (n.*530G>A)
n.1456G>A
c.*581G>A (n.*581G>A)
c.1464G>A (p.Met488Ile)
c.1341G>A (p.Met447Ile)
c.1287G>A (p.Met429Ile)
c.1107G>A (p.Met369Ile)
c.1056G>A (p.Met352Ile)
c.1734G>A (p.Met578Ile)
c.1383G>A (p.Met461Ile)
c.1683G>A (p.Met561Ile)
2g.120978547G>CCA348161622GLI2c.1431G>C (p.Met477Ile)
c.1482G>C (p.Met494Ile)
c.495G>C (p.Met165Ile)
c.*530G>C (n.*530G>C)
n.1456G>C
c.*581G>C (n.*581G>C)
c.1464G>C (p.Met488Ile)
c.1341G>C (p.Met447Ile)
c.1287G>C (p.Met429Ile)
c.1107G>C (p.Met369Ile)
c.1056G>C (p.Met352Ile)
c.1734G>C (p.Met578Ile)
c.1383G>C (p.Met461Ile)
c.1683G>C (p.Met561Ile)
2g.120978547G>TCA348161623GLI2c.1431G>T (p.Met477Ile)
c.1482G>T (p.Met494Ile)
c.495G>T (p.Met165Ile)
c.*530G>T (n.*530G>T)
n.1456G>T
c.*581G>T (n.*581G>T)
c.1464G>T (p.Met488Ile)
c.1341G>T (p.Met447Ile)
c.1287G>T (p.Met429Ile)
c.1107G>T (p.Met369Ile)
c.1056G>T (p.Met352Ile)
c.1734G>T (p.Met578Ile)
c.1383G>T (p.Met461Ile)
c.1683G>T (p.Met561Ile)
 gnomAD v4
2g.120978548C>ACA428229955GLI2c.1432C>A (p.Arg478=)
c.1483C>A (p.Arg495=)
c.496C>A (p.Arg166=)
c.*531C>A (n.*531C>A)
n.1457C>A
c.*582C>A (n.*582C>A)
c.1465C>A (p.Arg489=)
c.1342C>A (p.Arg448=)
c.1288C>A (p.Arg430=)
c.1108C>A (p.Arg370=)
c.1057C>A (p.Arg353=)
c.1735C>A (p.Arg579=)
c.1384C>A (p.Arg462=)
c.1684C>A (p.Arg562=)
2g.120978548C>GCA348161624GLI2c.1432C>G (p.Arg478Gly)
c.1483C>G (p.Arg495Gly)
c.496C>G (p.Arg166Gly)
c.*531C>G (n.*531C>G)
n.1457C>G
c.*582C>G (n.*582C>G)
c.1465C>G (p.Arg489Gly)
c.1342C>G (p.Arg448Gly)
c.1288C>G (p.Arg430Gly)
c.1108C>G (p.Arg370Gly)
c.1057C>G (p.Arg353Gly)
c.1735C>G (p.Arg579Gly)
c.1384C>G (p.Arg462Gly)
c.1684C>G (p.Arg562Gly)
2g.120978548C>TCA348161625GLI2c.1432C>T (p.Arg478Trp)
c.1483C>T (p.Arg495Trp)
c.496C>T (p.Arg166Trp)
c.*531C>T (n.*531C>T)
n.1457C>T
c.*582C>T (n.*582C>T)
c.1465C>T (p.Arg489Trp)
c.1342C>T (p.Arg448Trp)
c.1288C>T (p.Arg430Trp)
c.1108C>T (p.Arg370Trp)
c.1057C>T (p.Arg353Trp)
c.1735C>T (p.Arg579Trp)
c.1384C>T (p.Arg462Trp)
c.1684C>T (p.Arg562Trp)
 gnomAD v4 COSMIC
2g.120978549G>ACA348161626GLI2c.1433G>A (p.Arg478Gln)
c.1484G>A (p.Arg495Gln)
c.497G>A (p.Arg166Gln)
c.*532G>A (n.*532G>A)
n.1458G>A
c.*583G>A (n.*583G>A)
c.1466G>A (p.Arg489Gln)
c.1343G>A (p.Arg448Gln)
c.1289G>A (p.Arg430Gln)
c.1109G>A (p.Arg370Gln)
c.1058G>A (p.Arg353Gln)
c.1736G>A (p.Arg579Gln)
c.1385G>A (p.Arg462Gln)
c.1685G>A (p.Arg562Gln)
 ClinVar dbSNP gnomAD v4
2g.120978549G>CCA348161627GLI2c.1433G>C (p.Arg478Pro)
c.1484G>C (p.Arg495Pro)
c.497G>C (p.Arg166Pro)
c.*532G>C (n.*532G>C)
n.1458G>C
c.*583G>C (n.*583G>C)
c.1466G>C (p.Arg489Pro)
c.1343G>C (p.Arg448Pro)
c.1289G>C (p.Arg430Pro)
c.1109G>C (p.Arg370Pro)
c.1058G>C (p.Arg353Pro)
c.1736G>C (p.Arg579Pro)
c.1385G>C (p.Arg462Pro)
c.1685G>C (p.Arg562Pro)
2g.120978549G>TCA348161628GLI2c.1433G>T (p.Arg478Leu)
c.1484G>T (p.Arg495Leu)
c.497G>T (p.Arg166Leu)
c.*532G>T (n.*532G>T)
n.1458G>T
c.*583G>T (n.*583G>T)
c.1466G>T (p.Arg489Leu)
c.1343G>T (p.Arg448Leu)
c.1289G>T (p.Arg430Leu)
c.1109G>T (p.Arg370Leu)
c.1058G>T (p.Arg353Leu)
c.1736G>T (p.Arg579Leu)
c.1385G>T (p.Arg462Leu)
c.1685G>T (p.Arg562Leu)
2g.120978550G>ACA428229956GLI2c.1434G>A (p.Arg478=)
c.1485G>A (p.Arg495=)
c.498G>A (p.Arg166=)
c.*533G>A (n.*533G>A)
n.1459G>A
c.*584G>A (n.*584G>A)
c.1467G>A (p.Arg489=)
c.1344G>A (p.Arg448=)
c.1290G>A (p.Arg430=)
c.1110G>A (p.Arg370=)
c.1059G>A (p.Arg353=)
c.1737G>A (p.Arg579=)
c.1386G>A (p.Arg462=)
c.1686G>A (p.Arg562=)
2g.120978550G>CCA428229958GLI2c.1434G>C (p.Arg478=)
c.1485G>C (p.Arg495=)
c.498G>C (p.Arg166=)
c.*533G>C (n.*533G>C)
n.1459G>C
c.*584G>C (n.*584G>C)
c.1467G>C (p.Arg489=)
c.1344G>C (p.Arg448=)
c.1290G>C (p.Arg430=)
c.1110G>C (p.Arg370=)
c.1059G>C (p.Arg353=)
c.1737G>C (p.Arg579=)
c.1386G>C (p.Arg462=)
c.1686G>C (p.Arg562=)
2g.120978550G>TCA428229957GLI2c.1434G>T (p.Arg478=)
c.1485G>T (p.Arg495=)
c.498G>T (p.Arg166=)
c.*533G>T (n.*533G>T)
n.1459G>T
c.*584G>T (n.*584G>T)
c.1467G>T (p.Arg489=)
c.1344G>T (p.Arg448=)
c.1290G>T (p.Arg430=)
c.1110G>T (p.Arg370=)
c.1059G>T (p.Arg353=)
c.1737G>T (p.Arg579=)
c.1386G>T (p.Arg462=)
c.1686G>T (p.Arg562=)
2g.120978551C>ACA428229959GLI2c.1435C>A (p.Arg479=)
c.1486C>A (p.Arg496=)
c.499C>A (p.Arg167=)
c.*534C>A (n.*534C>A)
n.1460C>A
c.*585C>A (n.*585C>A)
c.1468C>A (p.Arg490=)
c.1345C>A (p.Arg449=)
c.1291C>A (p.Arg431=)
c.1111C>A (p.Arg371=)
c.1060C>A (p.Arg354=)
c.1738C>A (p.Arg580=)
c.1387C>A (p.Arg463=)
c.1687C>A (p.Arg563=)
2g.120978551C>GCA348161629GLI2c.1435C>G (p.Arg479Gly)
c.1486C>G (p.Arg496Gly)
c.499C>G (p.Arg167Gly)
c.*534C>G (n.*534C>G)
n.1460C>G
c.*585C>G (n.*585C>G)
c.1468C>G (p.Arg490Gly)
c.1345C>G (p.Arg449Gly)
c.1291C>G (p.Arg431Gly)
c.1111C>G (p.Arg371Gly)
c.1060C>G (p.Arg354Gly)
c.1738C>G (p.Arg580Gly)
c.1387C>G (p.Arg463Gly)
c.1687C>G (p.Arg563Gly)
2g.120978551C>TCA348161630GLI2c.1435C>T (p.Arg479Ter)
c.1486C>T (p.Arg496Ter)
c.499C>T (p.Arg167Ter)
c.*534C>T (n.*534C>T)
n.1460C>T
c.*585C>T (n.*585C>T)
c.1468C>T (p.Arg490Ter)
c.1345C>T (p.Arg449Ter)
c.1291C>T (p.Arg431Ter)
c.1111C>T (p.Arg371Ter)
c.1060C>T (p.Arg354Ter)
c.1738C>T (p.Arg580Ter)
c.1387C>T (p.Arg463Ter)
c.1687C>T (p.Arg563Ter)
2g.120978552G>ACA348161633GLI2c.1436G>A (p.Arg479Gln)
c.1487G>A (p.Arg496Gln)
c.500G>A (p.Arg167Gln)
c.*535G>A (n.*535G>A)
n.1461G>A
c.*586G>A (n.*586G>A)
c.1469G>A (p.Arg490Gln)
c.1346G>A (p.Arg449Gln)
c.1292G>A (p.Arg431Gln)
c.1112G>A (p.Arg371Gln)
c.1061G>A (p.Arg354Gln)
c.1739G>A (p.Arg580Gln)
c.1388G>A (p.Arg463Gln)
c.1688G>A (p.Arg563Gln)
 dbSNP gnomAD v4 COSMIC
2g.120978552G>CCA348161632GLI2c.1436G>C (p.Arg479Pro)
c.1487G>C (p.Arg496Pro)
c.500G>C (p.Arg167Pro)
c.*535G>C (n.*535G>C)
n.1461G>C
c.*586G>C (n.*586G>C)
c.1469G>C (p.Arg490Pro)
c.1346G>C (p.Arg449Pro)
c.1292G>C (p.Arg431Pro)
c.1112G>C (p.Arg371Pro)
c.1061G>C (p.Arg354Pro)
c.1739G>C (p.Arg580Pro)
c.1388G>C (p.Arg463Pro)
c.1688G>C (p.Arg563Pro)
2g.120978552G=CA1283790688GLI2c.1436G= (p.Arg479=)
c.1487G= (p.Arg496=)
c.500G= (p.Arg167=)
c.*535G= (n.*535G=)
n.1461G=
c.*586G= (n.*586G=)
c.1469G= (p.Arg490=)
c.1346G= (p.Arg449=)
c.1292G= (p.Arg431=)
c.1112G= (p.Arg371=)
c.1061G= (p.Arg354=)
c.1739G= (p.Arg580=)
c.1388G= (p.Arg463=)
c.1688G= (p.Arg563=)
2g.120978552G>TCA348161631GLI2c.1436G>T (p.Arg479Leu)
c.1487G>T (p.Arg496Leu)
c.500G>T (p.Arg167Leu)
c.*535G>T (n.*535G>T)
n.1461G>T
c.*586G>T (n.*586G>T)
c.1469G>T (p.Arg490Leu)
c.1346G>T (p.Arg449Leu)
c.1292G>T (p.Arg431Leu)
c.1112G>T (p.Arg371Leu)
c.1061G>T (p.Arg354Leu)
c.1739G>T (p.Arg580Leu)
c.1388G>T (p.Arg463Leu)
c.1688G>T (p.Arg563Leu)
2g.120978553A>CCA428229960GLI2c.1437A>C (p.Arg479=)
c.1488A>C (p.Arg496=)
c.501A>C (p.Arg167=)
c.*536A>C (n.*536A>C)
n.1462A>C
c.*587A>C (n.*587A>C)
c.1470A>C (p.Arg490=)
c.1347A>C (p.Arg449=)
c.1293A>C (p.Arg431=)
c.1113A>C (p.Arg371=)
c.1062A>C (p.Arg354=)
c.1740A>C (p.Arg580=)
c.1389A>C (p.Arg463=)
c.1689A>C (p.Arg563=)
2g.120978553A>GCA428229961GLI2c.1437A>G (p.Arg479=)
c.1488A>G (p.Arg496=)
c.501A>G (p.Arg167=)
c.*536A>G (n.*536A>G)
n.1462A>G
c.*587A>G (n.*587A>G)
c.1470A>G (p.Arg490=)
c.1347A>G (p.Arg449=)
c.1293A>G (p.Arg431=)
c.1113A>G (p.Arg371=)
c.1062A>G (p.Arg354=)
c.1740A>G (p.Arg580=)
c.1389A>G (p.Arg463=)
c.1689A>G (p.Arg563=)
 dbSNP
2g.120978553A>TCA428229963GLI2c.1437A>T (p.Arg479=)
c.1488A>T (p.Arg496=)
c.501A>T (p.Arg167=)
c.*536A>T (n.*536A>T)
n.1462A>T
c.*587A>T (n.*587A>T)
c.1470A>T (p.Arg490=)
c.1347A>T (p.Arg449=)
c.1293A>T (p.Arg431=)
c.1113A>T (p.Arg371=)
c.1062A>T (p.Arg354=)
c.1740A>T (p.Arg580=)
c.1389A>T (p.Arg463=)
c.1689A>T (p.Arg563=)
2g.120978554C>ACA348161634GLI2c.1438C>A (p.His480Asn)
c.1489C>A (p.His497Asn)
c.502C>A (p.His168Asn)
c.*537C>A (n.*537C>A)
n.1463C>A
c.*588C>A (n.*588C>A)
c.1471C>A (p.His491Asn)
c.1348C>A (p.His450Asn)
c.1294C>A (p.His432Asn)
c.1114C>A (p.His372Asn)
c.1063C>A (p.His355Asn)
c.1741C>A (p.His581Asn)
c.1390C>A (p.His464Asn)
c.1690C>A (p.His564Asn)
2g.120978554C>GCA348161635GLI2c.1438C>G (p.His480Asp)
c.1489C>G (p.His497Asp)
c.502C>G (p.His168Asp)
c.*537C>G (n.*537C>G)
n.1463C>G
c.*588C>G (n.*588C>G)
c.1471C>G (p.His491Asp)
c.1348C>G (p.His450Asp)
c.1294C>G (p.His432Asp)
c.1114C>G (p.His372Asp)
c.1063C>G (p.His355Asp)
c.1741C>G (p.His581Asp)
c.1390C>G (p.His464Asp)
c.1690C>G (p.His564Asp)
2g.120978554C>TCA348161636GLI2c.1438C>T (p.His480Tyr)
c.1489C>T (p.His497Tyr)
c.502C>T (p.His168Tyr)
c.*537C>T (n.*537C>T)
n.1463C>T
c.*588C>T (n.*588C>T)
c.1471C>T (p.His491Tyr)
c.1348C>T (p.His450Tyr)
c.1294C>T (p.His432Tyr)
c.1114C>T (p.His372Tyr)
c.1063C>T (p.His355Tyr)
c.1741C>T (p.His581Tyr)
c.1390C>T (p.His464Tyr)
c.1690C>T (p.His564Tyr)
2g.120978555A>CCA348161637GLI2c.1439A>C (p.His480Pro)
c.1490A>C (p.His497Pro)
c.503A>C (p.His168Pro)
c.*538A>C (n.*538A>C)
n.1464A>C
c.*589A>C (n.*589A>C)
c.1472A>C (p.His491Pro)
c.1349A>C (p.His450Pro)
c.1295A>C (p.His432Pro)
c.1115A>C (p.His372Pro)
c.1064A>C (p.His355Pro)
c.1742A>C (p.His581Pro)
c.1391A>C (p.His464Pro)
c.1691A>C (p.His564Pro)
2g.120978555A>GCA348161638GLI2c.1439A>G (p.His480Arg)
c.1490A>G (p.His497Arg)
c.503A>G (p.His168Arg)
c.*538A>G (n.*538A>G)
n.1464A>G
c.*589A>G (n.*589A>G)
c.1472A>G (p.His491Arg)
c.1349A>G (p.His450Arg)
c.1295A>G (p.His432Arg)
c.1115A>G (p.His372Arg)
c.1064A>G (p.His355Arg)
c.1742A>G (p.His581Arg)
c.1391A>G (p.His464Arg)
c.1691A>G (p.His564Arg)
2g.120978555A>TCA348161639GLI2c.1439A>T (p.His480Leu)
c.1490A>T (p.His497Leu)
c.503A>T (p.His168Leu)
c.*538A>T (n.*538A>T)
n.1464A>T
c.*589A>T (n.*589A>T)
c.1472A>T (p.His491Leu)
c.1349A>T (p.His450Leu)
c.1295A>T (p.His432Leu)
c.1115A>T (p.His372Leu)
c.1064A>T (p.His355Leu)
c.1742A>T (p.His581Leu)
c.1391A>T (p.His464Leu)
c.1691A>T (p.His564Leu)
2g.120978556C>ACA348161640GLI2c.1440C>A (p.His480Gln)
c.1491C>A (p.His497Gln)
c.504C>A (p.His168Gln)
c.*539C>A (n.*539C>A)
n.1465C>A
c.*590C>A (n.*590C>A)
c.1473C>A (p.His491Gln)
c.1350C>A (p.His450Gln)
c.1296C>A (p.His432Gln)
c.1116C>A (p.His372Gln)
c.1065C>A (p.His355Gln)
c.1743C>A (p.His581Gln)
c.1392C>A (p.His464Gln)
c.1692C>A (p.His564Gln)
2g.120978556C=CA1283790689GLI2c.1440C= (p.His480=)
c.1491C= (p.His497=)
c.504C= (p.His168=)
c.*539C= (n.*539C=)
n.1465C=
c.*590C= (n.*590C=)
c.1473C= (p.His491=)
c.1350C= (p.His450=)
c.1296C= (p.His432=)
c.1116C= (p.His372=)
c.1065C= (p.His355=)
c.1743C= (p.His581=)
c.1392C= (p.His464=)
c.1692C= (p.His564=)
2g.120978556C>GCA348161641GLI2c.1440C>G (p.His480Gln)
c.1491C>G (p.His497Gln)
c.504C>G (p.His168Gln)
c.*539C>G (n.*539C>G)
n.1465C>G
c.*590C>G (n.*590C>G)
c.1473C>G (p.His491Gln)
c.1350C>G (p.His450Gln)
c.1296C>G (p.His432Gln)
c.1116C>G (p.His372Gln)
c.1065C>G (p.His355Gln)
c.1743C>G (p.His581Gln)
c.1392C>G (p.His464Gln)
c.1692C>G (p.His564Gln)
2g.120978556C>TCA1851913GLI2c.1440C>T (p.His480=)
c.1491C>T (p.His497=)
c.504C>T (p.His168=)
c.*539C>T (n.*539C>T)
n.1465C>T
c.*590C>T (n.*590C>T)
c.1473C>T (p.His491=)
c.1350C>T (p.His450=)
c.1296C>T (p.His432=)
c.1116C>T (p.His372=)
c.1065C>T (p.His355=)
c.1743C>T (p.His581=)
c.1392C>T (p.His464=)
c.1692C>T (p.His564=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120978557A=CA1283790690GLI2c.1441A= (p.Thr481=)
c.1492A= (p.Thr498=)
c.505A= (p.Thr169=)
c.*540A= (n.*540A=)
n.1466A=
c.*591A= (n.*591A=)
c.1474A= (p.Thr492=)
c.1351A= (p.Thr451=)
c.1297A= (p.Thr433=)
c.1117A= (p.Thr373=)
c.1066A= (p.Thr356=)
c.1744A= (p.Thr582=)
c.1393A= (p.Thr465=)
c.1693A= (p.Thr565=)
2g.120978557A>CCA348161642GLI2c.1441A>C (p.Thr481Pro)
c.1492A>C (p.Thr498Pro)
c.505A>C (p.Thr169Pro)
c.*540A>C (n.*540A>C)
n.1466A>C
c.*591A>C (n.*591A>C)
c.1474A>C (p.Thr492Pro)
c.1351A>C (p.Thr451Pro)
c.1297A>C (p.Thr433Pro)
c.1117A>C (p.Thr373Pro)
c.1066A>C (p.Thr356Pro)
c.1744A>C (p.Thr582Pro)
c.1393A>C (p.Thr465Pro)
c.1693A>C (p.Thr565Pro)
2g.120978557A>GCA348161643GLI2c.1441A>G (p.Thr481Ala)
c.1492A>G (p.Thr498Ala)
c.505A>G (p.Thr169Ala)
c.*540A>G (n.*540A>G)
n.1466A>G
c.*591A>G (n.*591A>G)
c.1474A>G (p.Thr492Ala)
c.1351A>G (p.Thr451Ala)
c.1297A>G (p.Thr433Ala)
c.1117A>G (p.Thr373Ala)
c.1066A>G (p.Thr356Ala)
c.1744A>G (p.Thr582Ala)
c.1393A>G (p.Thr465Ala)
c.1693A>G (p.Thr565Ala)
2g.120978557A>TCA348161644GLI2c.1441A>T (p.Thr481Ser)
c.1492A>T (p.Thr498Ser)
c.505A>T (p.Thr169Ser)
c.*540A>T (n.*540A>T)
n.1466A>T
c.*591A>T (n.*591A>T)
c.1474A>T (p.Thr492Ser)
c.1351A>T (p.Thr451Ser)
c.1297A>T (p.Thr433Ser)
c.1117A>T (p.Thr373Ser)
c.1066A>T (p.Thr356Ser)
c.1744A>T (p.Thr582Ser)
c.1393A>T (p.Thr465Ser)
c.1693A>T (p.Thr565Ser)
 dbSNP gnomAD v4
2g.120978558C>ACA348161646GLI2c.1442C>A (p.Thr481Lys)
c.1493C>A (p.Thr498Lys)
c.506C>A (p.Thr169Lys)
c.*541C>A (n.*541C>A)
n.1467C>A
c.*592C>A (n.*592C>A)
c.1475C>A (p.Thr492Lys)
c.1352C>A (p.Thr451Lys)
c.1298C>A (p.Thr433Lys)
c.1118C>A (p.Thr373Lys)
c.1067C>A (p.Thr356Lys)
c.1745C>A (p.Thr582Lys)
c.1394C>A (p.Thr465Lys)
c.1694C>A (p.Thr565Lys)
2g.120978558C=CA1283790691GLI2c.1442C= (p.Thr481=)
c.1493C= (p.Thr498=)
c.506C= (p.Thr169=)
c.*541C= (n.*541C=)
n.1467C=
c.*592C= (n.*592C=)
c.1475C= (p.Thr492=)
c.1352C= (p.Thr451=)
c.1298C= (p.Thr433=)
c.1118C= (p.Thr373=)
c.1067C= (p.Thr356=)
c.1745C= (p.Thr582=)
c.1394C= (p.Thr465=)
c.1694C= (p.Thr565=)
2g.120978558C>GCA348161645GLI2c.1442C>G (p.Thr481Arg)
c.1493C>G (p.Thr498Arg)
c.506C>G (p.Thr169Arg)
c.*541C>G (n.*541C>G)
n.1467C>G
c.*592C>G (n.*592C>G)
c.1475C>G (p.Thr492Arg)
c.1352C>G (p.Thr451Arg)
c.1298C>G (p.Thr433Arg)
c.1118C>G (p.Thr373Arg)
c.1067C>G (p.Thr356Arg)
c.1745C>G (p.Thr582Arg)
c.1394C>G (p.Thr465Arg)
c.1694C>G (p.Thr565Arg)
2g.120978558C>TCA54373351GLI2c.1442C>T (p.Thr481Met)
c.1493C>T (p.Thr498Met)
c.506C>T (p.Thr169Met)
c.*541C>T (n.*541C>T)
n.1467C>T
c.*592C>T (n.*592C>T)
c.1475C>T (p.Thr492Met)
c.1352C>T (p.Thr451Met)
c.1298C>T (p.Thr433Met)
c.1118C>T (p.Thr373Met)
c.1067C>T (p.Thr356Met)
c.1745C>T (p.Thr582Met)
c.1394C>T (p.Thr465Met)
c.1694C>T (p.Thr565Met)
 dbSNP gnomAD v4
2g.120978559G>ACA1851914GLI2c.1443G>A (p.Thr481=)
c.1494G>A (p.Thr498=)
c.507G>A (p.Thr169=)
c.*542G>A (n.*542G>A)
n.1468G>A
c.*593G>A (n.*593G>A)
c.1476G>A (p.Thr492=)
c.1353G>A (p.Thr451=)
c.1299G>A (p.Thr433=)
c.1119G>A (p.Thr373=)
c.1068G>A (p.Thr356=)
c.1746G>A (p.Thr582=)
c.1395G>A (p.Thr465=)
c.1695G>A (p.Thr565=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120978559G>CCA428229969GLI2c.1443G>C (p.Thr481=)
c.1494G>C (p.Thr498=)
c.507G>C (p.Thr169=)
c.*542G>C (n.*542G>C)
n.1468G>C
c.*593G>C (n.*593G>C)
c.1476G>C (p.Thr492=)
c.1353G>C (p.Thr451=)
c.1299G>C (p.Thr433=)
c.1119G>C (p.Thr373=)
c.1068G>C (p.Thr356=)
c.1746G>C (p.Thr582=)
c.1395G>C (p.Thr465=)
c.1695G>C (p.Thr565=)
2g.120978559G=CA1283790692GLI2c.1443G= (p.Thr481=)
c.1494G= (p.Thr498=)
c.507G= (p.Thr169=)
c.*542G= (n.*542G=)
n.1468G=
c.*593G= (n.*593G=)
c.1476G= (p.Thr492=)
c.1353G= (p.Thr451=)
c.1299G= (p.Thr433=)
c.1119G= (p.Thr373=)
c.1068G= (p.Thr356=)
c.1746G= (p.Thr582=)
c.1395G= (p.Thr465=)
c.1695G= (p.Thr565=)
2g.120978559G>TCA428229971GLI2c.1443G>T (p.Thr481=)
c.1494G>T (p.Thr498=)
c.507G>T (p.Thr169=)
c.*542G>T (n.*542G>T)
n.1468G>T
c.*593G>T (n.*593G>T)
c.1476G>T (p.Thr492=)
c.1353G>T (p.Thr451=)
c.1299G>T (p.Thr433=)
c.1119G>T (p.Thr373=)
c.1068G>T (p.Thr356=)
c.1746G>T (p.Thr582=)
c.1395G>T (p.Thr465=)
c.1695G>T (p.Thr565=)
2g.120978560G>ACA348161647GLI2c.1444G>A (p.Gly482Ser)
c.1495G>A (p.Gly499Ser)
c.508G>A (p.Gly170Ser)
c.*543G>A (n.*543G>A)
n.1469G>A
c.*594G>A (n.*594G>A)
c.1477G>A (p.Gly493Ser)
c.1354G>A (p.Gly452Ser)
c.1300G>A (p.Gly434Ser)
c.1120G>A (p.Gly374Ser)
c.1069G>A (p.Gly357Ser)
c.1747G>A (p.Gly583Ser)
c.1396G>A (p.Gly466Ser)
c.1696G>A (p.Gly566Ser)
2g.120978560G>CCA348161648GLI2c.1444G>C (p.Gly482Arg)
c.1495G>C (p.Gly499Arg)
c.508G>C (p.Gly170Arg)
c.*543G>C (n.*543G>C)
n.1469G>C
c.*594G>C (n.*594G>C)
c.1477G>C (p.Gly493Arg)
c.1354G>C (p.Gly452Arg)
c.1300G>C (p.Gly434Arg)
c.1120G>C (p.Gly374Arg)
c.1069G>C (p.Gly357Arg)
c.1747G>C (p.Gly583Arg)
c.1396G>C (p.Gly466Arg)
c.1696G>C (p.Gly566Arg)
2g.120978560G>TCA348161649GLI2c.1444G>T (p.Gly482Cys)
c.1495G>T (p.Gly499Cys)
c.508G>T (p.Gly170Cys)
c.*543G>T (n.*543G>T)
n.1469G>T
c.*594G>T (n.*594G>T)
c.1477G>T (p.Gly493Cys)
c.1354G>T (p.Gly452Cys)
c.1300G>T (p.Gly434Cys)
c.1120G>T (p.Gly374Cys)
c.1069G>T (p.Gly357Cys)
c.1747G>T (p.Gly583Cys)
c.1396G>T (p.Gly466Cys)
c.1696G>T (p.Gly566Cys)
2g.120978561G>ACA348161650GLI2c.1445G>A (p.Gly482Asp)
c.1496G>A (p.Gly499Asp)
c.509G>A (p.Gly170Asp)
c.*544G>A (n.*544G>A)
n.1470G>A
c.*595G>A (n.*595G>A)
c.1478G>A (p.Gly493Asp)
c.1355G>A (p.Gly452Asp)
c.1301G>A (p.Gly434Asp)
c.1121G>A (p.Gly374Asp)
c.1070G>A (p.Gly357Asp)
c.1748G>A (p.Gly583Asp)
c.1397G>A (p.Gly466Asp)
c.1697G>A (p.Gly566Asp)
2g.120978561G>CCA348161651GLI2c.1445G>C (p.Gly482Ala)
c.1496G>C (p.Gly499Ala)
c.509G>C (p.Gly170Ala)
c.*544G>C (n.*544G>C)
n.1470G>C
c.*595G>C (n.*595G>C)
c.1478G>C (p.Gly493Ala)
c.1355G>C (p.Gly452Ala)
c.1301G>C (p.Gly434Ala)
c.1121G>C (p.Gly374Ala)
c.1070G>C (p.Gly357Ala)
c.1748G>C (p.Gly583Ala)
c.1397G>C (p.Gly466Ala)
c.1697G>C (p.Gly566Ala)
2g.120978561G>TCA348161652GLI2c.1445G>T (p.Gly482Val)
c.1496G>T (p.Gly499Val)
c.509G>T (p.Gly170Val)
c.*544G>T (n.*544G>T)
n.1470G>T
c.*595G>T (n.*595G>T)
c.1478G>T (p.Gly493Val)
c.1355G>T (p.Gly452Val)
c.1301G>T (p.Gly434Val)
c.1121G>T (p.Gly374Val)
c.1070G>T (p.Gly357Val)
c.1748G>T (p.Gly583Val)
c.1397G>T (p.Gly466Val)
c.1697G>T (p.Gly566Val)
2g.120978562C>ACA428229973GLI2c.1446C>A (p.Gly482=)
c.1497C>A (p.Gly499=)
c.510C>A (p.Gly170=)
c.*545C>A (n.*545C>A)
n.1471C>A
c.*596C>A (n.*596C>A)
c.1479C>A (p.Gly493=)
c.1356C>A (p.Gly452=)
c.1302C>A (p.Gly434=)
c.1122C>A (p.Gly374=)
c.1071C>A (p.Gly357=)
c.1749C>A (p.Gly583=)
c.1398C>A (p.Gly466=)
c.1698C>A (p.Gly566=)
2g.120978562C=CA1283790693GLI2c.1446C= (p.Gly482=)
c.1497C= (p.Gly499=)
c.510C= (p.Gly170=)
c.*545C= (n.*545C=)
n.1471C=
c.*596C= (n.*596C=)
c.1479C= (p.Gly493=)
c.1356C= (p.Gly452=)
c.1302C= (p.Gly434=)
c.1122C= (p.Gly374=)
c.1071C= (p.Gly357=)
c.1749C= (p.Gly583=)
c.1398C= (p.Gly466=)
c.1698C= (p.Gly566=)
2g.120978562C>GCA428229975GLI2c.1446C>G (p.Gly482=)
c.1497C>G (p.Gly499=)
c.510C>G (p.Gly170=)
c.*545C>G (n.*545C>G)
n.1471C>G
c.*596C>G (n.*596C>G)
c.1479C>G (p.Gly493=)
c.1356C>G (p.Gly452=)
c.1302C>G (p.Gly434=)
c.1122C>G (p.Gly374=)
c.1071C>G (p.Gly357=)
c.1749C>G (p.Gly583=)
c.1398C>G (p.Gly466=)
c.1698C>G (p.Gly566=)
2g.120978562C>TCA428229977GLI2c.1446C>T (p.Gly482=)
c.1497C>T (p.Gly499=)
c.510C>T (p.Gly170=)
c.*545C>T (n.*545C>T)
n.1471C>T
c.*596C>T (n.*596C>T)
c.1479C>T (p.Gly493=)
c.1356C>T (p.Gly452=)
c.1302C>T (p.Gly434=)
c.1122C>T (p.Gly374=)
c.1071C>T (p.Gly357=)
c.1749C>T (p.Gly583=)
c.1398C>T (p.Gly466=)
c.1698C>T (p.Gly566=)
 dbSNP gnomAD v2 gnomAD v4
2g.120978563G>ACA1851915GLI2c.1447G>A (p.Glu483Lys)
c.1498G>A (p.Glu500Lys)
c.511G>A (p.Glu171Lys)
c.*546G>A (n.*546G>A)
n.1472G>A
c.*597G>A (n.*597G>A)
c.1480G>A (p.Glu494Lys)
c.1357G>A (p.Glu453Lys)
c.1303G>A (p.Glu435Lys)
c.1123G>A (p.Glu375Lys)
c.1072G>A (p.Glu358Lys)
c.1750G>A (p.Glu584Lys)
c.1399G>A (p.Glu467Lys)
c.1699G>A (p.Glu567Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120978563G>CCA348161653GLI2c.1447G>C (p.Glu483Gln)
c.1498G>C (p.Glu500Gln)
c.511G>C (p.Glu171Gln)
c.*546G>C (n.*546G>C)
n.1472G>C
c.*597G>C (n.*597G>C)
c.1480G>C (p.Glu494Gln)
c.1357G>C (p.Glu453Gln)
c.1303G>C (p.Glu435Gln)
c.1123G>C (p.Glu375Gln)
c.1072G>C (p.Glu358Gln)
c.1750G>C (p.Glu584Gln)
c.1399G>C (p.Glu467Gln)
c.1699G>C (p.Glu567Gln)
2g.120978563G=CA1283790694GLI2c.1447G= (p.Glu483=)
c.1498G= (p.Glu500=)
c.511G= (p.Glu171=)
c.*546G= (n.*546G=)
n.1472G=
c.*597G= (n.*597G=)
c.1480G= (p.Glu494=)
c.1357G= (p.Glu453=)
c.1303G= (p.Glu435=)
c.1123G= (p.Glu375=)
c.1072G= (p.Glu358=)
c.1750G= (p.Glu584=)
c.1399G= (p.Glu467=)
c.1699G= (p.Glu567=)
2g.120978563G>TCA348161654GLI2c.1447G>T (p.Glu483Ter)
c.1498G>T (p.Glu500Ter)
c.511G>T (p.Glu171Ter)
c.*546G>T (n.*546G>T)
n.1472G>T
c.*597G>T (n.*597G>T)
c.1480G>T (p.Glu494Ter)
c.1357G>T (p.Glu453Ter)
c.1303G>T (p.Glu435Ter)
c.1123G>T (p.Glu375Ter)
c.1072G>T (p.Glu358Ter)
c.1750G>T (p.Glu584Ter)
c.1399G>T (p.Glu467Ter)
c.1699G>T (p.Glu567Ter)
2g.120978564A>CCA348161655GLI2c.1448A>C (p.Glu483Ala)
c.1499A>C (p.Glu500Ala)
c.512A>C (p.Glu171Ala)
c.*547A>C (n.*547A>C)
n.1473A>C
c.*598A>C (n.*598A>C)
c.1481A>C (p.Glu494Ala)
c.1358A>C (p.Glu453Ala)
c.1304A>C (p.Glu435Ala)
c.1124A>C (p.Glu375Ala)
c.1073A>C (p.Glu358Ala)
c.1751A>C (p.Glu584Ala)
c.1400A>C (p.Glu467Ala)
c.1700A>C (p.Glu567Ala)
2g.120978564A>GCA348161656GLI2c.1448A>G (p.Glu483Gly)
c.1499A>G (p.Glu500Gly)
c.512A>G (p.Glu171Gly)
c.*547A>G (n.*547A>G)
n.1473A>G
c.*598A>G (n.*598A>G)
c.1481A>G (p.Glu494Gly)
c.1358A>G (p.Glu453Gly)
c.1304A>G (p.Glu435Gly)
c.1124A>G (p.Glu375Gly)
c.1073A>G (p.Glu358Gly)
c.1751A>G (p.Glu584Gly)
c.1400A>G (p.Glu467Gly)
c.1700A>G (p.Glu567Gly)
2g.120978564A>TCA348161657GLI2c.1448A>T (p.Glu483Val)
c.1499A>T (p.Glu500Val)
c.512A>T (p.Glu171Val)
c.*547A>T (n.*547A>T)
n.1473A>T
c.*598A>T (n.*598A>T)
c.1481A>T (p.Glu494Val)
c.1358A>T (p.Glu453Val)
c.1304A>T (p.Glu435Val)
c.1124A>T (p.Glu375Val)
c.1073A>T (p.Glu358Val)
c.1751A>T (p.Glu584Val)
c.1400A>T (p.Glu467Val)
c.1700A>T (p.Glu567Val)
2g.120978565G>ACA428229981GLI2c.1449G>A (p.Glu483=)
c.1500G>A (p.Glu500=)
c.513G>A (p.Glu171=)
c.*548G>A (n.*548G>A)
n.1474G>A
c.*599G>A (n.*599G>A)
c.1482G>A (p.Glu494=)
c.1359G>A (p.Glu453=)
c.1305G>A (p.Glu435=)
c.1125G>A (p.Glu375=)
c.1074G>A (p.Glu358=)
c.1752G>A (p.Glu584=)
c.1401G>A (p.Glu467=)
c.1701G>A (p.Glu567=)
2g.120978565G>CCA348161658GLI2c.1449G>C (p.Glu483Asp)
c.1500G>C (p.Glu500Asp)
c.513G>C (p.Glu171Asp)
c.*548G>C (n.*548G>C)
n.1474G>C
c.*599G>C (n.*599G>C)
c.1482G>C (p.Glu494Asp)
c.1359G>C (p.Glu453Asp)
c.1305G>C (p.Glu435Asp)
c.1125G>C (p.Glu375Asp)
c.1074G>C (p.Glu358Asp)
c.1752G>C (p.Glu584Asp)
c.1401G>C (p.Glu467Asp)
c.1701G>C (p.Glu567Asp)
2g.120978565G>TCA348161659GLI2c.1449G>T (p.Glu483Asp)
c.1500G>T (p.Glu500Asp)
c.513G>T (p.Glu171Asp)
c.*548G>T (n.*548G>T)
n.1474G>T
c.*599G>T (n.*599G>T)
c.1482G>T (p.Glu494Asp)
c.1359G>T (p.Glu453Asp)
c.1305G>T (p.Glu435Asp)
c.1125G>T (p.Glu375Asp)
c.1074G>T (p.Glu358Asp)
c.1752G>T (p.Glu584Asp)
c.1401G>T (p.Glu467Asp)
c.1701G>T (p.Glu567Asp)
2g.120978566A>CCA348161660GLI2c.1450A>C (p.Lys484Gln)
c.1501A>C (p.Lys501Gln)
c.514A>C (p.Lys172Gln)
c.*549A>C (n.*549A>C)
n.1475A>C
c.*600A>C (n.*600A>C)
c.1483A>C (p.Lys495Gln)
c.1360A>C (p.Lys454Gln)
c.1306A>C (p.Lys436Gln)
c.1126A>C (p.Lys376Gln)
c.1075A>C (p.Lys359Gln)
c.1753A>C (p.Lys585Gln)
c.1402A>C (p.Lys468Gln)
c.1702A>C (p.Lys568Gln)
2g.120978566A>GCA348161662GLI2c.1450A>G (p.Lys484Glu)
c.1501A>G (p.Lys501Glu)
c.514A>G (p.Lys172Glu)
c.*549A>G (n.*549A>G)
n.1475A>G
c.*600A>G (n.*600A>G)
c.1483A>G (p.Lys495Glu)
c.1360A>G (p.Lys454Glu)
c.1306A>G (p.Lys436Glu)
c.1126A>G (p.Lys376Glu)
c.1075A>G (p.Lys359Glu)
c.1753A>G (p.Lys585Glu)
c.1402A>G (p.Lys468Glu)
c.1702A>G (p.Lys568Glu)
2g.120978566A>TCA348161661GLI2c.1450A>T (p.Lys484Ter)
c.1501A>T (p.Lys501Ter)
c.514A>T (p.Lys172Ter)
c.*549A>T (n.*549A>T)
n.1475A>T
c.*600A>T (n.*600A>T)
c.1483A>T (p.Lys495Ter)
c.1360A>T (p.Lys454Ter)
c.1306A>T (p.Lys436Ter)
c.1126A>T (p.Lys376Ter)
c.1075A>T (p.Lys359Ter)
c.1753A>T (p.Lys585Ter)
c.1402A>T (p.Lys468Ter)
c.1702A>T (p.Lys568Ter)
2g.120978567A=CA1283790695GLI2c.1451A= (p.Lys484=)
c.1502A= (p.Lys501=)
c.515A= (p.Lys172=)
c.*550A= (n.*550A=)
n.1476A=
c.*601A= (n.*601A=)
c.1484A= (p.Lys495=)
c.1361A= (p.Lys454=)
c.1307A= (p.Lys436=)
c.1127A= (p.Lys376=)
c.1076A= (p.Lys359=)
c.1754A= (p.Lys585=)
c.1403A= (p.Lys468=)
c.1703A= (p.Lys568=)
2g.120978567A>CCA348161663GLI2c.1451A>C (p.Lys484Thr)
c.1502A>C (p.Lys501Thr)
c.515A>C (p.Lys172Thr)
c.*550A>C (n.*550A>C)
n.1476A>C
c.*601A>C (n.*601A>C)
c.1484A>C (p.Lys495Thr)
c.1361A>C (p.Lys454Thr)
c.1307A>C (p.Lys436Thr)
c.1127A>C (p.Lys376Thr)
c.1076A>C (p.Lys359Thr)
c.1754A>C (p.Lys585Thr)
c.1403A>C (p.Lys468Thr)
c.1703A>C (p.Lys568Thr)
2g.120978567A>GCA348161665GLI2c.1451A>G (p.Lys484Arg)
c.1502A>G (p.Lys501Arg)
c.515A>G (p.Lys172Arg)
c.*550A>G (n.*550A>G)
n.1476A>G
c.*601A>G (n.*601A>G)
c.1484A>G (p.Lys495Arg)
c.1361A>G (p.Lys454Arg)
c.1307A>G (p.Lys436Arg)
c.1127A>G (p.Lys376Arg)
c.1076A>G (p.Lys359Arg)
c.1754A>G (p.Lys585Arg)
c.1403A>G (p.Lys468Arg)
c.1703A>G (p.Lys568Arg)
 dbSNP
2g.120978567A>TCA348161664GLI2c.1451A>T (p.Lys484Met)
c.1502A>T (p.Lys501Met)
c.515A>T (p.Lys172Met)
c.*550A>T (n.*550A>T)
n.1476A>T
c.*601A>T (n.*601A>T)
c.1484A>T (p.Lys495Met)
c.1361A>T (p.Lys454Met)
c.1307A>T (p.Lys436Met)
c.1127A>T (p.Lys376Met)
c.1076A>T (p.Lys359Met)
c.1754A>T (p.Lys585Met)
c.1403A>T (p.Lys468Met)
c.1703A>T (p.Lys568Met)

Number of alleles fetched