Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.120978425C= | CA1283790645 | GLI2 | c.1318-9C= (n.1318-9C=) c.1369-9C= (n.1369-9C=) c.382-9C= (n.382-9C=) c.*417-9C= (n.*417-9C=) n.1343-9C= c.*468-9C= (n.*468-9C=) c.1351-9C= (n.1351-9C=) c.1228-9C= (n.1228-9C=) c.1174-9C= (n.1174-9C=) c.994-9C= (n.994-9C=) c.943-9C= (n.943-9C=) c.1621-9C= (n.1621-9C=) c.1270-9C= (n.1270-9C=) c.1570-9C= (n.1570-9C=) | |
2 | g.120978425C>G | CA2577084644 | GLI2 | c.1318-9C>G (n.1318-9C>G) c.1369-9C>G (n.1369-9C>G) c.382-9C>G (n.382-9C>G) c.*417-9C>G (n.*417-9C>G) n.1343-9C>G c.*468-9C>G (n.*468-9C>G) c.1351-9C>G (n.1351-9C>G) c.1228-9C>G (n.1228-9C>G) c.1174-9C>G (n.1174-9C>G) c.994-9C>G (n.994-9C>G) c.943-9C>G (n.943-9C>G) c.1621-9C>G (n.1621-9C>G) c.1270-9C>G (n.1270-9C>G) c.1570-9C>G (n.1570-9C>G) | gnomAD v4 |
2 | g.120978425C>T | CA535600448 | GLI2 | c.1318-9C>T (n.1318-9C>T) c.1369-9C>T (n.1369-9C>T) c.382-9C>T (n.382-9C>T) c.*417-9C>T (n.*417-9C>T) n.1343-9C>T c.*468-9C>T (n.*468-9C>T) c.1351-9C>T (n.1351-9C>T) c.1228-9C>T (n.1228-9C>T) c.1174-9C>T (n.1174-9C>T) c.994-9C>T (n.994-9C>T) c.943-9C>T (n.943-9C>T) c.1621-9C>T (n.1621-9C>T) c.1270-9C>T (n.1270-9C>T) c.1570-9C>T (n.1570-9C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.120978427C= | CA1283790646 | GLI2 | c.1318-7C= (n.1318-7C=) c.1369-7C= (n.1369-7C=) c.382-7C= (n.382-7C=) c.*417-7C= (n.*417-7C=) n.1343-7C= c.*468-7C= (n.*468-7C=) c.1351-7C= (n.1351-7C=) c.1228-7C= (n.1228-7C=) c.1174-7C= (n.1174-7C=) c.994-7C= (n.994-7C=) c.943-7C= (n.943-7C=) c.1621-7C= (n.1621-7C=) c.1270-7C= (n.1270-7C=) c.1570-7C= (n.1570-7C=) | |
2 | g.120978427C>T | CA1851886 | GLI2 | c.1318-7C>T (n.1318-7C>T) c.1369-7C>T (n.1369-7C>T) c.382-7C>T (n.382-7C>T) c.*417-7C>T (n.*417-7C>T) n.1343-7C>T c.*468-7C>T (n.*468-7C>T) c.1351-7C>T (n.1351-7C>T) c.1228-7C>T (n.1228-7C>T) c.1174-7C>T (n.1174-7C>T) c.994-7C>T (n.994-7C>T) c.943-7C>T (n.943-7C>T) c.1621-7C>T (n.1621-7C>T) c.1270-7C>T (n.1270-7C>T) c.1570-7C>T (n.1570-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.120978428C= | CA1283790647 | GLI2 | c.1318-6C= (n.1318-6C=) c.1369-6C= (n.1369-6C=) c.382-6C= (n.382-6C=) c.*417-6C= (n.*417-6C=) n.1343-6C= c.*468-6C= (n.*468-6C=) c.1351-6C= (n.1351-6C=) c.1228-6C= (n.1228-6C=) c.1174-6C= (n.1174-6C=) c.994-6C= (n.994-6C=) c.943-6C= (n.943-6C=) c.1621-6C= (n.1621-6C=) c.1270-6C= (n.1270-6C=) c.1570-6C= (n.1570-6C=) | |
2 | g.120978428C>G | CA535600449 | GLI2 | c.1318-6C>G (n.1318-6C>G) c.1369-6C>G (n.1369-6C>G) c.382-6C>G (n.382-6C>G) c.*417-6C>G (n.*417-6C>G) n.1343-6C>G c.*468-6C>G (n.*468-6C>G) c.1351-6C>G (n.1351-6C>G) c.1228-6C>G (n.1228-6C>G) c.1174-6C>G (n.1174-6C>G) c.994-6C>G (n.994-6C>G) c.943-6C>G (n.943-6C>G) c.1621-6C>G (n.1621-6C>G) c.1270-6C>G (n.1270-6C>G) c.1570-6C>G (n.1570-6C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.120978428C>T | CA1851887 | GLI2 | c.1318-6C>T (n.1318-6C>T) c.1369-6C>T (n.1369-6C>T) c.382-6C>T (n.382-6C>T) c.*417-6C>T (n.*417-6C>T) n.1343-6C>T c.*468-6C>T (n.*468-6C>T) c.1351-6C>T (n.1351-6C>T) c.1228-6C>T (n.1228-6C>T) c.1174-6C>T (n.1174-6C>T) c.994-6C>T (n.994-6C>T) c.943-6C>T (n.943-6C>T) c.1621-6C>T (n.1621-6C>T) c.1270-6C>T (n.1270-6C>T) c.1570-6C>T (n.1570-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.120978429G>A | CA1851888 | GLI2 | c.1318-5G>A (n.1318-5G>A) c.1369-5G>A (n.1369-5G>A) c.382-5G>A (n.382-5G>A) c.*417-5G>A (n.*417-5G>A) n.1343-5G>A c.*468-5G>A (n.*468-5G>A) c.1351-5G>A (n.1351-5G>A) c.1228-5G>A (n.1228-5G>A) c.1174-5G>A (n.1174-5G>A) c.994-5G>A (n.994-5G>A) c.943-5G>A (n.943-5G>A) c.1621-5G>A (n.1621-5G>A) c.1270-5G>A (n.1270-5G>A) c.1570-5G>A (n.1570-5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.120978429G>C | CA2660920928 | GLI2 | c.1318-5G>C (n.1318-5G>C) c.1369-5G>C (n.1369-5G>C) c.382-5G>C (n.382-5G>C) c.*417-5G>C (n.*417-5G>C) n.1343-5G>C c.*468-5G>C (n.*468-5G>C) c.1351-5G>C (n.1351-5G>C) c.1228-5G>C (n.1228-5G>C) c.1174-5G>C (n.1174-5G>C) c.994-5G>C (n.994-5G>C) c.943-5G>C (n.943-5G>C) c.1621-5G>C (n.1621-5G>C) c.1270-5G>C (n.1270-5G>C) c.1570-5G>C (n.1570-5G>C) | gnomAD v4 |
2 | g.120978429G= | CA1283790648 | GLI2 | c.1318-5G= (n.1318-5G=) c.1369-5G= (n.1369-5G=) c.382-5G= (n.382-5G=) c.*417-5G= (n.*417-5G=) n.1343-5G= c.*468-5G= (n.*468-5G=) c.1351-5G= (n.1351-5G=) c.1228-5G= (n.1228-5G=) c.1174-5G= (n.1174-5G=) c.994-5G= (n.994-5G=) c.943-5G= (n.943-5G=) c.1621-5G= (n.1621-5G=) c.1270-5G= (n.1270-5G=) c.1570-5G= (n.1570-5G=) | |
2 | g.120978429G>T | CA2577084645 | GLI2 | c.1318-5G>T (n.1318-5G>T) c.1369-5G>T (n.1369-5G>T) c.382-5G>T (n.382-5G>T) c.*417-5G>T (n.*417-5G>T) n.1343-5G>T c.*468-5G>T (n.*468-5G>T) c.1351-5G>T (n.1351-5G>T) c.1228-5G>T (n.1228-5G>T) c.1174-5G>T (n.1174-5G>T) c.994-5G>T (n.994-5G>T) c.943-5G>T (n.943-5G>T) c.1621-5G>T (n.1621-5G>T) c.1270-5G>T (n.1270-5G>T) c.1570-5G>T (n.1570-5G>T) | |
2 | g.120978431C>T | CA2700362254 | GLI2 | c.1318-3C>T (n.1318-3C>T) c.1369-3C>T (n.1369-3C>T) c.382-3C>T (n.382-3C>T) c.*417-3C>T (n.*417-3C>T) n.1343-3C>T c.*468-3C>T (n.*468-3C>T) c.1351-3C>T (n.1351-3C>T) c.1228-3C>T (n.1228-3C>T) c.1174-3C>T (n.1174-3C>T) c.994-3C>T (n.994-3C>T) c.943-3C>T (n.943-3C>T) c.1621-3C>T (n.1621-3C>T) c.1270-3C>T (n.1270-3C>T) c.1570-3C>T (n.1570-3C>T) | dbSNP |
2 | g.120978433_120978443del | CA645539538 | GLI2 | c.1318-1_1327del c.1369-1_1378del c.382-1_391del c.*417-1_*426del n.1343-1_1352del c.*468-1_*477del c.1351-1_1360del c.1228-1_1237del c.1174-1_1183del c.994-1_1003del c.943-1_952del c.1621-1_1630del c.1270-1_1279del c.1570-1_1579del | COSMIC |
2 | g.120978432A>C | CA348161355 | GLI2 | c.1318-2A>C (n.1318-2A>C) c.1369-2A>C (n.1369-2A>C) c.382-2A>C (n.382-2A>C) c.*417-2A>C (n.*417-2A>C) n.1343-2A>C c.*468-2A>C (n.*468-2A>C) c.1351-2A>C (n.1351-2A>C) c.1228-2A>C (n.1228-2A>C) c.1174-2A>C (n.1174-2A>C) c.994-2A>C (n.994-2A>C) c.943-2A>C (n.943-2A>C) c.1621-2A>C (n.1621-2A>C) c.1270-2A>C (n.1270-2A>C) c.1570-2A>C (n.1570-2A>C) | |
2 | g.120978432A>G | CA348161356 | GLI2 | c.1318-2A>G (n.1318-2A>G) c.1369-2A>G (n.1369-2A>G) c.382-2A>G (n.382-2A>G) c.*417-2A>G (n.*417-2A>G) n.1343-2A>G c.*468-2A>G (n.*468-2A>G) c.1351-2A>G (n.1351-2A>G) c.1228-2A>G (n.1228-2A>G) c.1174-2A>G (n.1174-2A>G) c.994-2A>G (n.994-2A>G) c.943-2A>G (n.943-2A>G) c.1621-2A>G (n.1621-2A>G) c.1270-2A>G (n.1270-2A>G) c.1570-2A>G (n.1570-2A>G) | |
2 | g.120978432A>T | CA348161357 | GLI2 | c.1318-2A>T (n.1318-2A>T) c.1369-2A>T (n.1369-2A>T) c.382-2A>T (n.382-2A>T) c.*417-2A>T (n.*417-2A>T) n.1343-2A>T c.*468-2A>T (n.*468-2A>T) c.1351-2A>T (n.1351-2A>T) c.1228-2A>T (n.1228-2A>T) c.1174-2A>T (n.1174-2A>T) c.994-2A>T (n.994-2A>T) c.943-2A>T (n.943-2A>T) c.1621-2A>T (n.1621-2A>T) c.1270-2A>T (n.1270-2A>T) c.1570-2A>T (n.1570-2A>T) | |
2 | g.120978433G>A | CA348161360 | GLI2 | c.1318-1G>A (n.1318-1G>A) c.1369-1G>A (n.1369-1G>A) c.382-1G>A (n.382-1G>A) c.*417-1G>A (n.*417-1G>A) n.1343-1G>A c.*468-1G>A (n.*468-1G>A) c.1351-1G>A (n.1351-1G>A) c.1228-1G>A (n.1228-1G>A) c.1174-1G>A (n.1174-1G>A) c.994-1G>A (n.994-1G>A) c.943-1G>A (n.943-1G>A) c.1621-1G>A (n.1621-1G>A) c.1270-1G>A (n.1270-1G>A) c.1570-1G>A (n.1570-1G>A) | dbSNP |
2 | g.120978433G>C | CA348161358 | GLI2 | c.1318-1G>C (n.1318-1G>C) c.1369-1G>C (n.1369-1G>C) c.382-1G>C (n.382-1G>C) c.*417-1G>C (n.*417-1G>C) n.1343-1G>C c.*468-1G>C (n.*468-1G>C) c.1351-1G>C (n.1351-1G>C) c.1228-1G>C (n.1228-1G>C) c.1174-1G>C (n.1174-1G>C) c.994-1G>C (n.994-1G>C) c.943-1G>C (n.943-1G>C) c.1621-1G>C (n.1621-1G>C) c.1270-1G>C (n.1270-1G>C) c.1570-1G>C (n.1570-1G>C) | |
2 | g.120978433G>T | CA348161359 | GLI2 | c.1318-1G>T (n.1318-1G>T) c.1369-1G>T (n.1369-1G>T) c.382-1G>T (n.382-1G>T) c.*417-1G>T (n.*417-1G>T) n.1343-1G>T c.*468-1G>T (n.*468-1G>T) c.1351-1G>T (n.1351-1G>T) c.1228-1G>T (n.1228-1G>T) c.1174-1G>T (n.1174-1G>T) c.994-1G>T (n.994-1G>T) c.943-1G>T (n.943-1G>T) c.1621-1G>T (n.1621-1G>T) c.1270-1G>T (n.1270-1G>T) c.1570-1G>T (n.1570-1G>T) | |
2 | g.120978434C>A | CA348161361 | GLI2 | c.1318C>A (p.His440Asn) c.1369C>A (p.His457Asn) c.382C>A (p.His128Asn) c.*417C>A (n.*417C>A) n.1343C>A c.*468C>A (n.*468C>A) c.1351C>A (p.His451Asn) c.1228C>A (p.His410Asn) c.1174C>A (p.His392Asn) c.994C>A (p.His332Asn) c.943C>A (p.His315Asn) c.1621C>A (p.His541Asn) c.1270C>A (p.His424Asn) c.1570C>A (p.His524Asn) | |
2 | g.120978434C>G | CA348161362 | GLI2 | c.1318C>G (p.His440Asp) c.1369C>G (p.His457Asp) c.382C>G (p.His128Asp) c.*417C>G (n.*417C>G) n.1343C>G c.*468C>G (n.*468C>G) c.1351C>G (p.His451Asp) c.1228C>G (p.His410Asp) c.1174C>G (p.His392Asp) c.994C>G (p.His332Asp) c.943C>G (p.His315Asp) c.1621C>G (p.His541Asp) c.1270C>G (p.His424Asp) c.1570C>G (p.His524Asp) | |
2 | g.120978434C>T | CA348161363 | GLI2 | c.1318C>T (p.His440Tyr) c.1369C>T (p.His457Tyr) c.382C>T (p.His128Tyr) c.*417C>T (n.*417C>T) n.1343C>T c.*468C>T (n.*468C>T) c.1351C>T (p.His451Tyr) c.1228C>T (p.His410Tyr) c.1174C>T (p.His392Tyr) c.994C>T (p.His332Tyr) c.943C>T (p.His315Tyr) c.1621C>T (p.His541Tyr) c.1270C>T (p.His424Tyr) c.1570C>T (p.His524Tyr) | |
2 | g.120978435A>C | CA348161364 | GLI2 | c.1319A>C (p.His440Pro) c.1370A>C (p.His457Pro) c.383A>C (p.His128Pro) c.*418A>C (n.*418A>C) n.1344A>C c.*469A>C (n.*469A>C) c.1352A>C (p.His451Pro) c.1229A>C (p.His410Pro) c.1175A>C (p.His392Pro) c.995A>C (p.His332Pro) c.944A>C (p.His315Pro) c.1622A>C (p.His541Pro) c.1271A>C (p.His424Pro) c.1571A>C (p.His524Pro) | |
2 | g.120978435A>G | CA348161365 | GLI2 | c.1319A>G (p.His440Arg) c.1370A>G (p.His457Arg) c.383A>G (p.His128Arg) c.*418A>G (n.*418A>G) n.1344A>G c.*469A>G (n.*469A>G) c.1352A>G (p.His451Arg) c.1229A>G (p.His410Arg) c.1175A>G (p.His392Arg) c.995A>G (p.His332Arg) c.944A>G (p.His315Arg) c.1622A>G (p.His541Arg) c.1271A>G (p.His424Arg) c.1571A>G (p.His524Arg) | |
2 | g.120978435A>T | CA348161366 | GLI2 | c.1319A>T (p.His440Leu) c.1370A>T (p.His457Leu) c.383A>T (p.His128Leu) c.*418A>T (n.*418A>T) n.1344A>T c.*469A>T (n.*469A>T) c.1352A>T (p.His451Leu) c.1229A>T (p.His410Leu) c.1175A>T (p.His392Leu) c.995A>T (p.His332Leu) c.944A>T (p.His315Leu) c.1622A>T (p.His541Leu) c.1271A>T (p.His424Leu) c.1571A>T (p.His524Leu) | |
2 | g.120978436C>A | CA348161367 | GLI2 | c.1320C>A (p.His440Gln) c.1371C>A (p.His457Gln) c.384C>A (p.His128Gln) c.*419C>A (n.*419C>A) n.1345C>A c.*470C>A (n.*470C>A) c.1353C>A (p.His451Gln) c.1230C>A (p.His410Gln) c.1176C>A (p.His392Gln) c.996C>A (p.His332Gln) c.945C>A (p.His315Gln) c.1623C>A (p.His541Gln) c.1272C>A (p.His424Gln) c.1572C>A (p.His524Gln) | |
2 | g.120978436C>G | CA348161368 | GLI2 | c.1320C>G (p.His440Gln) c.1371C>G (p.His457Gln) c.384C>G (p.His128Gln) c.*419C>G (n.*419C>G) n.1345C>G c.*470C>G (n.*470C>G) c.1353C>G (p.His451Gln) c.1230C>G (p.His410Gln) c.1176C>G (p.His392Gln) c.996C>G (p.His332Gln) c.945C>G (p.His315Gln) c.1623C>G (p.His541Gln) c.1272C>G (p.His424Gln) c.1572C>G (p.His524Gln) | gnomAD v4 |
2 | g.120978436C>T | CA428229904 | GLI2 | c.1320C>T (p.His440=) c.1371C>T (p.His457=) c.384C>T (p.His128=) c.*419C>T (n.*419C>T) n.1345C>T c.*470C>T (n.*470C>T) c.1353C>T (p.His451=) c.1230C>T (p.His410=) c.1176C>T (p.His392=) c.996C>T (p.His332=) c.945C>T (p.His315=) c.1623C>T (p.His541=) c.1272C>T (p.His424=) c.1572C>T (p.His524=) | gnomAD v4 COSMIC |
2 | g.120978437A>C | CA348161369 | GLI2 | c.1321A>C (p.Ile441Leu) c.1372A>C (p.Ile458Leu) c.385A>C (p.Ile129Leu) c.*420A>C (n.*420A>C) n.1346A>C c.*471A>C (n.*471A>C) c.1354A>C (p.Ile452Leu) c.1231A>C (p.Ile411Leu) c.1177A>C (p.Ile393Leu) c.997A>C (p.Ile333Leu) c.946A>C (p.Ile316Leu) c.1624A>C (p.Ile542Leu) c.1273A>C (p.Ile425Leu) c.1573A>C (p.Ile525Leu) | |
2 | g.120978437A>G | CA348161370 | GLI2 | c.1321A>G (p.Ile441Val) c.1372A>G (p.Ile458Val) c.385A>G (p.Ile129Val) c.*420A>G (n.*420A>G) n.1346A>G c.*471A>G (n.*471A>G) c.1354A>G (p.Ile452Val) c.1231A>G (p.Ile411Val) c.1177A>G (p.Ile393Val) c.997A>G (p.Ile333Val) c.946A>G (p.Ile316Val) c.1624A>G (p.Ile542Val) c.1273A>G (p.Ile425Val) c.1573A>G (p.Ile525Val) | |
2 | g.120978437A>T | CA348161371 | GLI2 | c.1321A>T (p.Ile441Phe) c.1372A>T (p.Ile458Phe) c.385A>T (p.Ile129Phe) c.*420A>T (n.*420A>T) n.1346A>T c.*471A>T (n.*471A>T) c.1354A>T (p.Ile452Phe) c.1231A>T (p.Ile411Phe) c.1177A>T (p.Ile393Phe) c.997A>T (p.Ile333Phe) c.946A>T (p.Ile316Phe) c.1624A>T (p.Ile542Phe) c.1273A>T (p.Ile425Phe) c.1573A>T (p.Ile525Phe) | |
2 | g.120978438T>A | CA348161374 | GLI2 | c.1322T>A (p.Ile441Asn) c.1373T>A (p.Ile458Asn) c.386T>A (p.Ile129Asn) c.*421T>A (n.*421T>A) n.1347T>A c.*472T>A (n.*472T>A) c.1355T>A (p.Ile452Asn) c.1232T>A (p.Ile411Asn) c.1178T>A (p.Ile393Asn) c.998T>A (p.Ile333Asn) c.947T>A (p.Ile316Asn) c.1625T>A (p.Ile542Asn) c.1274T>A (p.Ile425Asn) c.1574T>A (p.Ile525Asn) | |
2 | g.120978438T>C | CA348161373 | GLI2 | c.1322T>C (p.Ile441Thr) c.1373T>C (p.Ile458Thr) c.386T>C (p.Ile129Thr) c.*421T>C (n.*421T>C) n.1347T>C c.*472T>C (n.*472T>C) c.1355T>C (p.Ile452Thr) c.1232T>C (p.Ile411Thr) c.1178T>C (p.Ile393Thr) c.998T>C (p.Ile333Thr) c.947T>C (p.Ile316Thr) c.1625T>C (p.Ile542Thr) c.1274T>C (p.Ile425Thr) c.1574T>C (p.Ile525Thr) | gnomAD v4 |
2 | g.120978438T>G | CA348161372 | GLI2 | c.1322T>G (p.Ile441Ser) c.1373T>G (p.Ile458Ser) c.386T>G (p.Ile129Ser) c.*421T>G (n.*421T>G) n.1347T>G c.*472T>G (n.*472T>G) c.1355T>G (p.Ile452Ser) c.1232T>G (p.Ile411Ser) c.1178T>G (p.Ile393Ser) c.998T>G (p.Ile333Ser) c.947T>G (p.Ile316Ser) c.1625T>G (p.Ile542Ser) c.1274T>G (p.Ile425Ser) c.1574T>G (p.Ile525Ser) | |
2 | g.120978438_120978441delinsTCAA | CA1283790649 | GLI2 | c.1322_1325delinsTCAA (p.Ile441=) c.1373_1376delinsTCAA (p.Ile458=) c.386_389delinsTCAA (p.Ile129=) c.*421_*424delinsTCAA (n.*421_*424delinsTCAA) n.1347_1350delinsTCAA c.*472_*475delinsTCAA (n.*472_*475delinsTCAA) c.1355_1358delinsTCAA (p.Ile452=) c.1232_1235delinsTCAA (p.Ile411=) c.1178_1181delinsTCAA (p.Ile393=) c.998_1001delinsTCAA (p.Ile333=) c.947_950delinsTCAA (p.Ile316=) c.1625_1628delinsTCAA (p.Ile542=) c.1274_1277delinsTCAA (p.Ile425=) c.1574_1577delinsTCAA (p.Ile525=) | |
2 | g.120978439C>A | CA428229905 | GLI2 | c.1323C>A (p.Ile441=) c.1374C>A (p.Ile458=) c.387C>A (p.Ile129=) c.*422C>A (n.*422C>A) n.1348C>A c.*473C>A (n.*473C>A) c.1356C>A (p.Ile452=) c.1233C>A (p.Ile411=) c.1179C>A (p.Ile393=) c.999C>A (p.Ile333=) c.948C>A (p.Ile316=) c.1626C>A (p.Ile542=) c.1275C>A (p.Ile425=) c.1575C>A (p.Ile525=) | |
2 | g.120978439C>G | CA348161375 | GLI2 | c.1323C>G (p.Ile441Met) c.1374C>G (p.Ile458Met) c.387C>G (p.Ile129Met) c.*422C>G (n.*422C>G) n.1348C>G c.*473C>G (n.*473C>G) c.1356C>G (p.Ile452Met) c.1233C>G (p.Ile411Met) c.1179C>G (p.Ile393Met) c.999C>G (p.Ile333Met) c.948C>G (p.Ile316Met) c.1626C>G (p.Ile542Met) c.1275C>G (p.Ile425Met) c.1575C>G (p.Ile525Met) | |
2 | g.120978439C>T | CA428229906 | GLI2 | c.1323C>T (p.Ile441=) c.1374C>T (p.Ile458=) c.387C>T (p.Ile129=) c.*422C>T (n.*422C>T) n.1348C>T c.*473C>T (n.*473C>T) c.1356C>T (p.Ile452=) c.1233C>T (p.Ile411=) c.1179C>T (p.Ile393=) c.999C>T (p.Ile333=) c.948C>T (p.Ile316=) c.1626C>T (p.Ile542=) c.1275C>T (p.Ile425=) c.1575C>T (p.Ile525=) | |
2 | g.120978443_120978445del | CA756041607 | GLI2 | c.1327_1329del (p.Asn443del) c.1378_1380del (p.Asn460del) c.391_393del (p.Asn131del) c.*426_*428del (n.*426_*428del) n.1352_1354del c.*477_*479del (n.*477_*479del) c.1360_1362del (p.Asn454del) c.1237_1239del (p.Asn413del) c.1183_1185del (p.Asn395del) c.1003_1005del (p.Asn335del) c.952_954del (p.Asn318del) c.1630_1632del (p.Asn544del) c.1279_1281del (p.Asn427del) c.1579_1581del (p.Asn527del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.120978440A>C | CA348161378 | GLI2 | c.1324A>C (p.Asn442His) c.1375A>C (p.Asn459His) c.388A>C (p.Asn130His) c.*423A>C (n.*423A>C) n.1349A>C c.*474A>C (n.*474A>C) c.1357A>C (p.Asn453His) c.1234A>C (p.Asn412His) c.1180A>C (p.Asn394His) c.1000A>C (p.Asn334His) c.949A>C (p.Asn317His) c.1627A>C (p.Asn543His) c.1276A>C (p.Asn426His) c.1576A>C (p.Asn526His) | gnomAD v4 |
2 | g.120978440A>G | CA348161376 | GLI2 | c.1324A>G (p.Asn442Asp) c.1375A>G (p.Asn459Asp) c.388A>G (p.Asn130Asp) c.*423A>G (n.*423A>G) n.1349A>G c.*474A>G (n.*474A>G) c.1357A>G (p.Asn453Asp) c.1234A>G (p.Asn412Asp) c.1180A>G (p.Asn394Asp) c.1000A>G (p.Asn334Asp) c.949A>G (p.Asn317Asp) c.1627A>G (p.Asn543Asp) c.1276A>G (p.Asn426Asp) c.1576A>G (p.Asn526Asp) | |
2 | g.120978440A>T | CA348161377 | GLI2 | c.1324A>T (p.Asn442Tyr) c.1375A>T (p.Asn459Tyr) c.388A>T (p.Asn130Tyr) c.*423A>T (n.*423A>T) n.1349A>T c.*474A>T (n.*474A>T) c.1357A>T (p.Asn453Tyr) c.1234A>T (p.Asn412Tyr) c.1180A>T (p.Asn394Tyr) c.1000A>T (p.Asn334Tyr) c.949A>T (p.Asn317Tyr) c.1627A>T (p.Asn543Tyr) c.1276A>T (p.Asn426Tyr) c.1576A>T (p.Asn526Tyr) | |
2 | g.120978441A>C | CA348161379 | GLI2 | c.1325A>C (p.Asn442Thr) c.1376A>C (p.Asn459Thr) c.389A>C (p.Asn130Thr) c.*424A>C (n.*424A>C) n.1350A>C c.*475A>C (n.*475A>C) c.1358A>C (p.Asn453Thr) c.1235A>C (p.Asn412Thr) c.1181A>C (p.Asn394Thr) c.1001A>C (p.Asn334Thr) c.950A>C (p.Asn317Thr) c.1628A>C (p.Asn543Thr) c.1277A>C (p.Asn426Thr) c.1577A>C (p.Asn526Thr) | |
2 | g.120978441A>G | CA348161380 | GLI2 | c.1325A>G (p.Asn442Ser) c.1376A>G (p.Asn459Ser) c.389A>G (p.Asn130Ser) c.*424A>G (n.*424A>G) n.1350A>G c.*475A>G (n.*475A>G) c.1358A>G (p.Asn453Ser) c.1235A>G (p.Asn412Ser) c.1181A>G (p.Asn394Ser) c.1001A>G (p.Asn334Ser) c.950A>G (p.Asn317Ser) c.1628A>G (p.Asn543Ser) c.1277A>G (p.Asn426Ser) c.1577A>G (p.Asn526Ser) | |
2 | g.120978441A>T | CA348161381 | GLI2 | c.1325A>T (p.Asn442Ile) c.1376A>T (p.Asn459Ile) c.389A>T (p.Asn130Ile) c.*424A>T (n.*424A>T) n.1350A>T c.*475A>T (n.*475A>T) c.1358A>T (p.Asn453Ile) c.1235A>T (p.Asn412Ile) c.1181A>T (p.Asn394Ile) c.1001A>T (p.Asn334Ile) c.950A>T (p.Asn317Ile) c.1628A>T (p.Asn543Ile) c.1277A>T (p.Asn426Ile) c.1577A>T (p.Asn526Ile) | |
2 | g.120978442C>A | CA348161382 | GLI2 | c.1326C>A (p.Asn442Lys) c.1377C>A (p.Asn459Lys) c.390C>A (p.Asn130Lys) c.*425C>A (n.*425C>A) n.1351C>A c.*476C>A (n.*476C>A) c.1359C>A (p.Asn453Lys) c.1236C>A (p.Asn412Lys) c.1182C>A (p.Asn394Lys) c.1002C>A (p.Asn334Lys) c.951C>A (p.Asn317Lys) c.1629C>A (p.Asn543Lys) c.1278C>A (p.Asn426Lys) c.1578C>A (p.Asn526Lys) | |
2 | g.120978442C>G | CA348161383 | GLI2 | c.1326C>G (p.Asn442Lys) c.1377C>G (p.Asn459Lys) c.390C>G (p.Asn130Lys) c.*425C>G (n.*425C>G) n.1351C>G c.*476C>G (n.*476C>G) c.1359C>G (p.Asn453Lys) c.1236C>G (p.Asn412Lys) c.1182C>G (p.Asn394Lys) c.1002C>G (p.Asn334Lys) c.951C>G (p.Asn317Lys) c.1629C>G (p.Asn543Lys) c.1278C>G (p.Asn426Lys) c.1578C>G (p.Asn526Lys) | |
2 | g.120978442C>T | CA428229907 | GLI2 | c.1326C>T (p.Asn442=) c.1377C>T (p.Asn459=) c.390C>T (p.Asn130=) c.*425C>T (n.*425C>T) n.1351C>T c.*476C>T (n.*476C>T) c.1359C>T (p.Asn453=) c.1236C>T (p.Asn412=) c.1182C>T (p.Asn394=) c.1002C>T (p.Asn334=) c.951C>T (p.Asn317=) c.1629C>T (p.Asn543=) c.1278C>T (p.Asn426=) c.1578C>T (p.Asn526=) | |
2 | g.120978443A>C | CA348161384 | GLI2 | c.1327A>C (p.Asn443His) c.1378A>C (p.Asn460His) c.391A>C (p.Asn131His) c.*426A>C (n.*426A>C) n.1352A>C c.*477A>C (n.*477A>C) c.1360A>C (p.Asn454His) c.1237A>C (p.Asn413His) c.1183A>C (p.Asn395His) c.1003A>C (p.Asn335His) c.952A>C (p.Asn318His) c.1630A>C (p.Asn544His) c.1279A>C (p.Asn427His) c.1579A>C (p.Asn527His) | |
2 | g.120978443A>G | CA348161385 | GLI2 | c.1327A>G (p.Asn443Asp) c.1378A>G (p.Asn460Asp) c.391A>G (p.Asn131Asp) c.*426A>G (n.*426A>G) n.1352A>G c.*477A>G (n.*477A>G) c.1360A>G (p.Asn454Asp) c.1237A>G (p.Asn413Asp) c.1183A>G (p.Asn395Asp) c.1003A>G (p.Asn335Asp) c.952A>G (p.Asn318Asp) c.1630A>G (p.Asn544Asp) c.1279A>G (p.Asn427Asp) c.1579A>G (p.Asn527Asp) | |
2 | g.120978443A>T | CA348161386 | GLI2 | c.1327A>T (p.Asn443Tyr) c.1378A>T (p.Asn460Tyr) c.391A>T (p.Asn131Tyr) c.*426A>T (n.*426A>T) n.1352A>T c.*477A>T (n.*477A>T) c.1360A>T (p.Asn454Tyr) c.1237A>T (p.Asn413Tyr) c.1183A>T (p.Asn395Tyr) c.1003A>T (p.Asn335Tyr) c.952A>T (p.Asn318Tyr) c.1630A>T (p.Asn544Tyr) c.1279A>T (p.Asn427Tyr) c.1579A>T (p.Asn527Tyr) | |
2 | g.120978444A>C | CA348161387 | GLI2 | c.1328A>C (p.Asn443Thr) c.1379A>C (p.Asn460Thr) c.392A>C (p.Asn131Thr) c.*427A>C (n.*427A>C) n.1353A>C c.*478A>C (n.*478A>C) c.1361A>C (p.Asn454Thr) c.1238A>C (p.Asn413Thr) c.1184A>C (p.Asn395Thr) c.1004A>C (p.Asn335Thr) c.953A>C (p.Asn318Thr) c.1631A>C (p.Asn544Thr) c.1280A>C (p.Asn427Thr) c.1580A>C (p.Asn527Thr) | |
2 | g.120978444A>G | CA348161388 | GLI2 | c.1328A>G (p.Asn443Ser) c.1379A>G (p.Asn460Ser) c.392A>G (p.Asn131Ser) c.*427A>G (n.*427A>G) n.1353A>G c.*478A>G (n.*478A>G) c.1361A>G (p.Asn454Ser) c.1238A>G (p.Asn413Ser) c.1184A>G (p.Asn395Ser) c.1004A>G (p.Asn335Ser) c.953A>G (p.Asn318Ser) c.1631A>G (p.Asn544Ser) c.1280A>G (p.Asn427Ser) c.1580A>G (p.Asn527Ser) | |
2 | g.120978444A>T | CA348161389 | GLI2 | c.1328A>T (p.Asn443Ile) c.1379A>T (p.Asn460Ile) c.392A>T (p.Asn131Ile) c.*427A>T (n.*427A>T) n.1353A>T c.*478A>T (n.*478A>T) c.1361A>T (p.Asn454Ile) c.1238A>T (p.Asn413Ile) c.1184A>T (p.Asn395Ile) c.1004A>T (p.Asn335Ile) c.953A>T (p.Asn318Ile) c.1631A>T (p.Asn544Ile) c.1280A>T (p.Asn427Ile) c.1580A>T (p.Asn527Ile) | |
2 | g.120978445C>A | CA348161390 | GLI2 | c.1329C>A (p.Asn443Lys) c.1380C>A (p.Asn460Lys) c.393C>A (p.Asn131Lys) c.*428C>A (n.*428C>A) n.1354C>A c.*479C>A (n.*479C>A) c.1362C>A (p.Asn454Lys) c.1239C>A (p.Asn413Lys) c.1185C>A (p.Asn395Lys) c.1005C>A (p.Asn335Lys) c.954C>A (p.Asn318Lys) c.1632C>A (p.Asn544Lys) c.1281C>A (p.Asn427Lys) c.1581C>A (p.Asn527Lys) | |
2 | g.120978445C= | CA1283790650 | GLI2 | c.1329C= (p.Asn443=) c.1380C= (p.Asn460=) c.393C= (p.Asn131=) c.*428C= (n.*428C=) n.1354C= c.*479C= (n.*479C=) c.1362C= (p.Asn454=) c.1239C= (p.Asn413=) c.1185C= (p.Asn395=) c.1005C= (p.Asn335=) c.954C= (p.Asn318=) c.1632C= (p.Asn544=) c.1281C= (p.Asn427=) c.1581C= (p.Asn527=) | |
2 | g.120978445C>G | CA348161391 | GLI2 | c.1329C>G (p.Asn443Lys) c.1380C>G (p.Asn460Lys) c.393C>G (p.Asn131Lys) c.*428C>G (n.*428C>G) n.1354C>G c.*479C>G (n.*479C>G) c.1362C>G (p.Asn454Lys) c.1239C>G (p.Asn413Lys) c.1185C>G (p.Asn395Lys) c.1005C>G (p.Asn335Lys) c.954C>G (p.Asn318Lys) c.1632C>G (p.Asn544Lys) c.1281C>G (p.Asn427Lys) c.1581C>G (p.Asn527Lys) | gnomAD v4 |
2 | g.120978445C>T | CA428229908 | GLI2 | c.1329C>T (p.Asn443=) c.1380C>T (p.Asn460=) c.393C>T (p.Asn131=) c.*428C>T (n.*428C>T) n.1354C>T c.*479C>T (n.*479C>T) c.1362C>T (p.Asn454=) c.1239C>T (p.Asn413=) c.1185C>T (p.Asn395=) c.1005C>T (p.Asn335=) c.954C>T (p.Asn318=) c.1632C>T (p.Asn544=) c.1281C>T (p.Asn427=) c.1581C>T (p.Asn527=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.120978446G>A | CA348161392 | GLI2 | c.1330G>A (p.Glu444Lys) c.1381G>A (p.Glu461Lys) c.394G>A (p.Glu132Lys) c.*429G>A (n.*429G>A) n.1355G>A c.*480G>A (n.*480G>A) c.1363G>A (p.Glu455Lys) c.1240G>A (p.Glu414Lys) c.1186G>A (p.Glu396Lys) c.1006G>A (p.Glu336Lys) c.955G>A (p.Glu319Lys) c.1633G>A (p.Glu545Lys) c.1282G>A (p.Glu428Lys) c.1582G>A (p.Glu528Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.120978446G>C | CA348161393 | GLI2 | c.1330G>C (p.Glu444Gln) c.1381G>C (p.Glu461Gln) c.394G>C (p.Glu132Gln) c.*429G>C (n.*429G>C) n.1355G>C c.*480G>C (n.*480G>C) c.1363G>C (p.Glu455Gln) c.1240G>C (p.Glu414Gln) c.1186G>C (p.Glu396Gln) c.1006G>C (p.Glu336Gln) c.955G>C (p.Glu319Gln) c.1633G>C (p.Glu545Gln) c.1282G>C (p.Glu428Gln) c.1582G>C (p.Glu528Gln) | |
2 | g.120978446G= | CA1283790651 | GLI2 | c.1330G= (p.Glu444=) c.1381G= (p.Glu461=) c.394G= (p.Glu132=) c.*429G= (n.*429G=) n.1355G= c.*480G= (n.*480G=) c.1363G= (p.Glu455=) c.1240G= (p.Glu414=) c.1186G= (p.Glu396=) c.1006G= (p.Glu336=) c.955G= (p.Glu319=) c.1633G= (p.Glu545=) c.1282G= (p.Glu428=) c.1582G= (p.Glu528=) | |
2 | g.120978446G>T | CA348161394 | GLI2 | c.1330G>T (p.Glu444Ter) c.1381G>T (p.Glu461Ter) c.394G>T (p.Glu132Ter) c.*429G>T (n.*429G>T) n.1355G>T c.*480G>T (n.*480G>T) c.1363G>T (p.Glu455Ter) c.1240G>T (p.Glu414Ter) c.1186G>T (p.Glu396Ter) c.1006G>T (p.Glu336Ter) c.955G>T (p.Glu319Ter) c.1633G>T (p.Glu545Ter) c.1282G>T (p.Glu428Ter) c.1582G>T (p.Glu528Ter) | |
2 | g.120978447A>C | CA348161395 | GLI2 | c.1331A>C (p.Glu444Ala) c.1382A>C (p.Glu461Ala) c.395A>C (p.Glu132Ala) c.*430A>C (n.*430A>C) n.1356A>C c.*481A>C (n.*481A>C) c.1364A>C (p.Glu455Ala) c.1241A>C (p.Glu414Ala) c.1187A>C (p.Glu396Ala) c.1007A>C (p.Glu336Ala) c.956A>C (p.Glu319Ala) c.1634A>C (p.Glu545Ala) c.1283A>C (p.Glu428Ala) c.1583A>C (p.Glu528Ala) | |
2 | g.120978447A>G | CA348161396 | GLI2 | c.1331A>G (p.Glu444Gly) c.1382A>G (p.Glu461Gly) c.395A>G (p.Glu132Gly) c.*430A>G (n.*430A>G) n.1356A>G c.*481A>G (n.*481A>G) c.1364A>G (p.Glu455Gly) c.1241A>G (p.Glu414Gly) c.1187A>G (p.Glu396Gly) c.1007A>G (p.Glu336Gly) c.956A>G (p.Glu319Gly) c.1634A>G (p.Glu545Gly) c.1283A>G (p.Glu428Gly) c.1583A>G (p.Glu528Gly) | |
2 | g.120978447A>T | CA348161397 | GLI2 | c.1331A>T (p.Glu444Val) c.1382A>T (p.Glu461Val) c.395A>T (p.Glu132Val) c.*430A>T (n.*430A>T) n.1356A>T c.*481A>T (n.*481A>T) c.1364A>T (p.Glu455Val) c.1241A>T (p.Glu414Val) c.1187A>T (p.Glu396Val) c.1007A>T (p.Glu336Val) c.956A>T (p.Glu319Val) c.1634A>T (p.Glu545Val) c.1283A>T (p.Glu428Val) c.1583A>T (p.Glu528Val) | gnomAD v4 |
2 | g.120978448G>A | CA428229909 | GLI2 | c.1332G>A (p.Glu444=) c.1383G>A (p.Glu461=) c.396G>A (p.Glu132=) c.*431G>A (n.*431G>A) n.1357G>A c.*482G>A (n.*482G>A) c.1365G>A (p.Glu455=) c.1242G>A (p.Glu414=) c.1188G>A (p.Glu396=) c.1008G>A (p.Glu336=) c.957G>A (p.Glu319=) c.1635G>A (p.Glu545=) c.1284G>A (p.Glu428=) c.1584G>A (p.Glu528=) | gnomAD v4 |
2 | g.120978448G>C | CA348161398 | GLI2 | c.1332G>C (p.Glu444Asp) c.1383G>C (p.Glu461Asp) c.396G>C (p.Glu132Asp) c.*431G>C (n.*431G>C) n.1357G>C c.*482G>C (n.*482G>C) c.1365G>C (p.Glu455Asp) c.1242G>C (p.Glu414Asp) c.1188G>C (p.Glu396Asp) c.1008G>C (p.Glu336Asp) c.957G>C (p.Glu319Asp) c.1635G>C (p.Glu545Asp) c.1284G>C (p.Glu428Asp) c.1584G>C (p.Glu528Asp) | |
2 | g.120978448G>T | CA348161399 | GLI2 | c.1332G>T (p.Glu444Asp) c.1383G>T (p.Glu461Asp) c.396G>T (p.Glu132Asp) c.*431G>T (n.*431G>T) n.1357G>T c.*482G>T (n.*482G>T) c.1365G>T (p.Glu455Asp) c.1242G>T (p.Glu414Asp) c.1188G>T (p.Glu396Asp) c.1008G>T (p.Glu336Asp) c.957G>T (p.Glu319Asp) c.1635G>T (p.Glu545Asp) c.1284G>T (p.Glu428Asp) c.1584G>T (p.Glu528Asp) | |
2 | g.120978449C>A | CA348161400 | GLI2 | c.1333C>A (p.His445Asn) c.1384C>A (p.His462Asn) c.397C>A (p.His133Asn) c.*432C>A (n.*432C>A) n.1358C>A c.*483C>A (n.*483C>A) c.1366C>A (p.His456Asn) c.1243C>A (p.His415Asn) c.1189C>A (p.His397Asn) c.1009C>A (p.His337Asn) c.958C>A (p.His320Asn) c.1636C>A (p.His546Asn) c.1285C>A (p.His429Asn) c.1585C>A (p.His529Asn) | |
2 | g.120978449C>G | CA348161401 | GLI2 | c.1333C>G (p.His445Asp) c.1384C>G (p.His462Asp) c.397C>G (p.His133Asp) c.*432C>G (n.*432C>G) n.1358C>G c.*483C>G (n.*483C>G) c.1366C>G (p.His456Asp) c.1243C>G (p.His415Asp) c.1189C>G (p.His397Asp) c.1009C>G (p.His337Asp) c.958C>G (p.His320Asp) c.1636C>G (p.His546Asp) c.1285C>G (p.His429Asp) c.1585C>G (p.His529Asp) | |
2 | g.120978449C>T | CA348161402 | GLI2 | c.1333C>T (p.His445Tyr) c.1384C>T (p.His462Tyr) c.397C>T (p.His133Tyr) c.*432C>T (n.*432C>T) n.1358C>T c.*483C>T (n.*483C>T) c.1366C>T (p.His456Tyr) c.1243C>T (p.His415Tyr) c.1189C>T (p.His397Tyr) c.1009C>T (p.His337Tyr) c.958C>T (p.His320Tyr) c.1636C>T (p.His546Tyr) c.1285C>T (p.His429Tyr) c.1585C>T (p.His529Tyr) | |
2 | g.120978450A>C | CA348161404 | GLI2 | c.1334A>C (p.His445Pro) c.1385A>C (p.His462Pro) c.398A>C (p.His133Pro) c.*433A>C (n.*433A>C) n.1359A>C c.*484A>C (n.*484A>C) c.1367A>C (p.His456Pro) c.1244A>C (p.His415Pro) c.1190A>C (p.His397Pro) c.1010A>C (p.His337Pro) c.959A>C (p.His320Pro) c.1637A>C (p.His546Pro) c.1286A>C (p.His429Pro) c.1586A>C (p.His529Pro) | gnomAD v4 |
2 | g.120978450A>G | CA348161405 | GLI2 | c.1334A>G (p.His445Arg) c.1385A>G (p.His462Arg) c.398A>G (p.His133Arg) c.*433A>G (n.*433A>G) n.1359A>G c.*484A>G (n.*484A>G) c.1367A>G (p.His456Arg) c.1244A>G (p.His415Arg) c.1190A>G (p.His397Arg) c.1010A>G (p.His337Arg) c.959A>G (p.His320Arg) c.1637A>G (p.His546Arg) c.1286A>G (p.His429Arg) c.1586A>G (p.His529Arg) | |
2 | g.120978450A>T | CA348161403 | GLI2 | c.1334A>T (p.His445Leu) c.1385A>T (p.His462Leu) c.398A>T (p.His133Leu) c.*433A>T (n.*433A>T) n.1359A>T c.*484A>T (n.*484A>T) c.1367A>T (p.His456Leu) c.1244A>T (p.His415Leu) c.1190A>T (p.His397Leu) c.1010A>T (p.His337Leu) c.959A>T (p.His320Leu) c.1637A>T (p.His546Leu) c.1286A>T (p.His429Leu) c.1586A>T (p.His529Leu) | |
2 | g.120978451C>A | CA348161406 | GLI2 | c.1335C>A (p.His445Gln) c.1386C>A (p.His462Gln) c.399C>A (p.His133Gln) c.*434C>A (n.*434C>A) n.1360C>A c.*485C>A (n.*485C>A) c.1368C>A (p.His456Gln) c.1245C>A (p.His415Gln) c.1191C>A (p.His397Gln) c.1011C>A (p.His337Gln) c.960C>A (p.His320Gln) c.1638C>A (p.His546Gln) c.1287C>A (p.His429Gln) c.1587C>A (p.His529Gln) | |
2 | g.120978451C>G | CA348161407 | GLI2 | c.1335C>G (p.His445Gln) c.1386C>G (p.His462Gln) c.399C>G (p.His133Gln) c.*434C>G (n.*434C>G) n.1360C>G c.*485C>G (n.*485C>G) c.1368C>G (p.His456Gln) c.1245C>G (p.His415Gln) c.1191C>G (p.His397Gln) c.1011C>G (p.His337Gln) c.960C>G (p.His320Gln) c.1638C>G (p.His546Gln) c.1287C>G (p.His429Gln) c.1587C>G (p.His529Gln) | |
2 | g.120978451C>T | CA428229910 | GLI2 | c.1335C>T (p.His445=) c.1386C>T (p.His462=) c.399C>T (p.His133=) c.*434C>T (n.*434C>T) n.1360C>T c.*485C>T (n.*485C>T) c.1368C>T (p.His456=) c.1245C>T (p.His415=) c.1191C>T (p.His397=) c.1011C>T (p.His337=) c.960C>T (p.His320=) c.1638C>T (p.His546=) c.1287C>T (p.His429=) c.1587C>T (p.His529=) | gnomAD v4 |
2 | g.120978452A= | CA1283790652 | GLI2 | c.1336A= (p.Ile446=) c.1387A= (p.Ile463=) c.400A= (p.Ile134=) c.*435A= (n.*435A=) n.1361A= c.*486A= (n.*486A=) c.1369A= (p.Ile457=) c.1246A= (p.Ile416=) c.1192A= (p.Ile398=) c.1012A= (p.Ile338=) c.961A= (p.Ile321=) c.1639A= (p.Ile547=) c.1288A= (p.Ile430=) c.1588A= (p.Ile530=) | |
2 | g.120978452A>C | CA348161408 | GLI2 | c.1336A>C (p.Ile446Leu) c.1387A>C (p.Ile463Leu) c.400A>C (p.Ile134Leu) c.*435A>C (n.*435A>C) n.1361A>C c.*486A>C (n.*486A>C) c.1369A>C (p.Ile457Leu) c.1246A>C (p.Ile416Leu) c.1192A>C (p.Ile398Leu) c.1012A>C (p.Ile338Leu) c.961A>C (p.Ile321Leu) c.1639A>C (p.Ile547Leu) c.1288A>C (p.Ile430Leu) c.1588A>C (p.Ile530Leu) | |
2 | g.120978452A>G | CA1851889 | GLI2 | c.1336A>G (p.Ile446Val) c.1387A>G (p.Ile463Val) c.400A>G (p.Ile134Val) c.*435A>G (n.*435A>G) n.1361A>G c.*486A>G (n.*486A>G) c.1369A>G (p.Ile457Val) c.1246A>G (p.Ile416Val) c.1192A>G (p.Ile398Val) c.1012A>G (p.Ile338Val) c.961A>G (p.Ile321Val) c.1639A>G (p.Ile547Val) c.1288A>G (p.Ile430Val) c.1588A>G (p.Ile530Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.120978452A>T | CA348161409 | GLI2 | c.1336A>T (p.Ile446Phe) c.1387A>T (p.Ile463Phe) c.400A>T (p.Ile134Phe) c.*435A>T (n.*435A>T) n.1361A>T c.*486A>T (n.*486A>T) c.1369A>T (p.Ile457Phe) c.1246A>T (p.Ile416Phe) c.1192A>T (p.Ile398Phe) c.1012A>T (p.Ile338Phe) c.961A>T (p.Ile321Phe) c.1639A>T (p.Ile547Phe) c.1288A>T (p.Ile430Phe) c.1588A>T (p.Ile530Phe) | |
2 | g.120978453T>A | CA348161410 | GLI2 | c.1337T>A (p.Ile446Asn) c.1388T>A (p.Ile463Asn) c.401T>A (p.Ile134Asn) c.*436T>A (n.*436T>A) n.1362T>A c.*487T>A (n.*487T>A) c.1370T>A (p.Ile457Asn) c.1247T>A (p.Ile416Asn) c.1193T>A (p.Ile398Asn) c.1013T>A (p.Ile338Asn) c.962T>A (p.Ile321Asn) c.1640T>A (p.Ile547Asn) c.1289T>A (p.Ile430Asn) c.1589T>A (p.Ile530Asn) | |
2 | g.120978453T>C | CA348161411 | GLI2 | c.1337T>C (p.Ile446Thr) c.1388T>C (p.Ile463Thr) c.401T>C (p.Ile134Thr) c.*436T>C (n.*436T>C) n.1362T>C c.*487T>C (n.*487T>C) c.1370T>C (p.Ile457Thr) c.1247T>C (p.Ile416Thr) c.1193T>C (p.Ile398Thr) c.1013T>C (p.Ile338Thr) c.962T>C (p.Ile321Thr) c.1640T>C (p.Ile547Thr) c.1289T>C (p.Ile430Thr) c.1589T>C (p.Ile530Thr) | gnomAD v4 |
2 | g.120978453T>G | CA348161412 | GLI2 | c.1337T>G (p.Ile446Ser) c.1388T>G (p.Ile463Ser) c.401T>G (p.Ile134Ser) c.*436T>G (n.*436T>G) n.1362T>G c.*487T>G (n.*487T>G) c.1370T>G (p.Ile457Ser) c.1247T>G (p.Ile416Ser) c.1193T>G (p.Ile398Ser) c.1013T>G (p.Ile338Ser) c.962T>G (p.Ile321Ser) c.1640T>G (p.Ile547Ser) c.1289T>G (p.Ile430Ser) c.1589T>G (p.Ile530Ser) | |
2 | g.120978454C>A | CA428229911 | GLI2 | c.1338C>A (p.Ile446=) c.1389C>A (p.Ile463=) c.402C>A (p.Ile134=) c.*437C>A (n.*437C>A) n.1363C>A c.*488C>A (n.*488C>A) c.1371C>A (p.Ile457=) c.1248C>A (p.Ile416=) c.1194C>A (p.Ile398=) c.1014C>A (p.Ile338=) c.963C>A (p.Ile321=) c.1641C>A (p.Ile547=) c.1290C>A (p.Ile430=) c.1590C>A (p.Ile530=) | |
2 | g.120978454C>G | CA348161413 | GLI2 | c.1338C>G (p.Ile446Met) c.1389C>G (p.Ile463Met) c.402C>G (p.Ile134Met) c.*437C>G (n.*437C>G) n.1363C>G c.*488C>G (n.*488C>G) c.1371C>G (p.Ile457Met) c.1248C>G (p.Ile416Met) c.1194C>G (p.Ile398Met) c.1014C>G (p.Ile338Met) c.963C>G (p.Ile321Met) c.1641C>G (p.Ile547Met) c.1290C>G (p.Ile430Met) c.1590C>G (p.Ile530Met) | |
2 | g.120978454C>T | CA428229912 | GLI2 | c.1338C>T (p.Ile446=) c.1389C>T (p.Ile463=) c.402C>T (p.Ile134=) c.*437C>T (n.*437C>T) n.1363C>T c.*488C>T (n.*488C>T) c.1371C>T (p.Ile457=) c.1248C>T (p.Ile416=) c.1194C>T (p.Ile398=) c.1014C>T (p.Ile338=) c.963C>T (p.Ile321=) c.1641C>T (p.Ile547=) c.1290C>T (p.Ile430=) c.1590C>T (p.Ile530=) | |
2 | g.120978455C>A | CA348161414 | GLI2 | c.1339C>A (p.His447Asn) c.1390C>A (p.His464Asn) c.403C>A (p.His135Asn) c.*438C>A (n.*438C>A) n.1364C>A c.*489C>A (n.*489C>A) c.1372C>A (p.His458Asn) c.1249C>A (p.His417Asn) c.1195C>A (p.His399Asn) c.1015C>A (p.His339Asn) c.964C>A (p.His322Asn) c.1642C>A (p.His548Asn) c.1291C>A (p.His431Asn) c.1591C>A (p.His531Asn) | |
2 | g.120978455C>G | CA348161415 | GLI2 | c.1339C>G (p.His447Asp) c.1390C>G (p.His464Asp) c.403C>G (p.His135Asp) c.*438C>G (n.*438C>G) n.1364C>G c.*489C>G (n.*489C>G) c.1372C>G (p.His458Asp) c.1249C>G (p.His417Asp) c.1195C>G (p.His399Asp) c.1015C>G (p.His339Asp) c.964C>G (p.His322Asp) c.1642C>G (p.His548Asp) c.1291C>G (p.His431Asp) c.1591C>G (p.His531Asp) | |
2 | g.120978455C>T | CA348161416 | GLI2 | c.1339C>T (p.His447Tyr) c.1390C>T (p.His464Tyr) c.403C>T (p.His135Tyr) c.*438C>T (n.*438C>T) n.1364C>T c.*489C>T (n.*489C>T) c.1372C>T (p.His458Tyr) c.1249C>T (p.His417Tyr) c.1195C>T (p.His399Tyr) c.1015C>T (p.His339Tyr) c.964C>T (p.His322Tyr) c.1642C>T (p.His548Tyr) c.1291C>T (p.His431Tyr) c.1591C>T (p.His531Tyr) | COSMIC |
2 | g.120978456A>C | CA348161418 | GLI2 | c.1340A>C (p.His447Pro) c.1391A>C (p.His464Pro) c.404A>C (p.His135Pro) c.*439A>C (n.*439A>C) n.1365A>C c.*490A>C (n.*490A>C) c.1373A>C (p.His458Pro) c.1250A>C (p.His417Pro) c.1196A>C (p.His399Pro) c.1016A>C (p.His339Pro) c.965A>C (p.His322Pro) c.1643A>C (p.His548Pro) c.1292A>C (p.His431Pro) c.1592A>C (p.His531Pro) | |
2 | g.120978456A>G | CA348161419 | GLI2 | c.1340A>G (p.His447Arg) c.1391A>G (p.His464Arg) c.404A>G (p.His135Arg) c.*439A>G (n.*439A>G) n.1365A>G c.*490A>G (n.*490A>G) c.1373A>G (p.His458Arg) c.1250A>G (p.His417Arg) c.1196A>G (p.His399Arg) c.1016A>G (p.His339Arg) c.965A>G (p.His322Arg) c.1643A>G (p.His548Arg) c.1292A>G (p.His431Arg) c.1592A>G (p.His531Arg) | |
2 | g.120978456A>T | CA348161417 | GLI2 | c.1340A>T (p.His447Leu) c.1391A>T (p.His464Leu) c.404A>T (p.His135Leu) c.*439A>T (n.*439A>T) n.1365A>T c.*490A>T (n.*490A>T) c.1373A>T (p.His458Leu) c.1250A>T (p.His417Leu) c.1196A>T (p.His399Leu) c.1016A>T (p.His339Leu) c.965A>T (p.His322Leu) c.1643A>T (p.His548Leu) c.1292A>T (p.His431Leu) c.1592A>T (p.His531Leu) | |
2 | g.120978457C>A | CA348161420 | GLI2 | c.1341C>A (p.His447Gln) c.1392C>A (p.His464Gln) c.405C>A (p.His135Gln) c.*440C>A (n.*440C>A) n.1366C>A c.*491C>A (n.*491C>A) c.1374C>A (p.His458Gln) c.1251C>A (p.His417Gln) c.1197C>A (p.His399Gln) c.1017C>A (p.His339Gln) c.966C>A (p.His322Gln) c.1644C>A (p.His548Gln) c.1293C>A (p.His431Gln) c.1593C>A (p.His531Gln) | |
2 | g.120978457C= | CA1283790653 | GLI2 | c.1341C= (p.His447=) c.1392C= (p.His464=) c.405C= (p.His135=) c.*440C= (n.*440C=) n.1366C= c.*491C= (n.*491C=) c.1374C= (p.His458=) c.1251C= (p.His417=) c.1197C= (p.His399=) c.1017C= (p.His339=) c.966C= (p.His322=) c.1644C= (p.His548=) c.1293C= (p.His431=) c.1593C= (p.His531=) | |
2 | g.120978457C>G | CA348161421 | GLI2 | c.1341C>G (p.His447Gln) c.1392C>G (p.His464Gln) c.405C>G (p.His135Gln) c.*440C>G (n.*440C>G) n.1366C>G c.*491C>G (n.*491C>G) c.1374C>G (p.His458Gln) c.1251C>G (p.His417Gln) c.1197C>G (p.His399Gln) c.1017C>G (p.His339Gln) c.966C>G (p.His322Gln) c.1644C>G (p.His548Gln) c.1293C>G (p.His431Gln) c.1593C>G (p.His531Gln) | |
2 | g.120978457C>T | CA1851890 | GLI2 | c.1341C>T (p.His447=) c.1392C>T (p.His464=) c.405C>T (p.His135=) c.*440C>T (n.*440C>T) n.1366C>T c.*491C>T (n.*491C>T) c.1374C>T (p.His458=) c.1251C>T (p.His417=) c.1197C>T (p.His399=) c.1017C>T (p.His339=) c.966C>T (p.His322=) c.1644C>T (p.His548=) c.1293C>T (p.His431=) c.1593C>T (p.His531=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.120978458G>A | CA54373143 | GLI2 | c.1342G>A (p.Gly448Arg) c.1393G>A (p.Gly465Arg) c.406G>A (p.Gly136Arg) c.*441G>A (n.*441G>A) n.1367G>A c.*492G>A (n.*492G>A) c.1375G>A (p.Gly459Arg) c.1252G>A (p.Gly418Arg) c.1198G>A (p.Gly400Arg) c.1018G>A (p.Gly340Arg) c.967G>A (p.Gly323Arg) c.1645G>A (p.Gly549Arg) c.1294G>A (p.Gly432Arg) c.1594G>A (p.Gly532Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.120978458G>C | CA1851891 | GLI2 | c.1342G>C (p.Gly448Arg) c.1393G>C (p.Gly465Arg) c.406G>C (p.Gly136Arg) c.*441G>C (n.*441G>C) n.1367G>C c.*492G>C (n.*492G>C) c.1375G>C (p.Gly459Arg) c.1252G>C (p.Gly418Arg) c.1198G>C (p.Gly400Arg) c.1018G>C (p.Gly340Arg) c.967G>C (p.Gly323Arg) c.1645G>C (p.Gly549Arg) c.1294G>C (p.Gly432Arg) c.1594G>C (p.Gly532Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.120978458G= | CA1283790654 | GLI2 | c.1342G= (p.Gly448=) c.1393G= (p.Gly465=) c.406G= (p.Gly136=) c.*441G= (n.*441G=) n.1367G= c.*492G= (n.*492G=) c.1375G= (p.Gly459=) c.1252G= (p.Gly418=) c.1198G= (p.Gly400=) c.1018G= (p.Gly340=) c.967G= (p.Gly323=) c.1645G= (p.Gly549=) c.1294G= (p.Gly432=) c.1594G= (p.Gly532=) | |
2 | g.120978458G>T | CA348161422 | GLI2 | c.1342G>T (p.Gly448Trp) c.1393G>T (p.Gly465Trp) c.406G>T (p.Gly136Trp) c.*441G>T (n.*441G>T) n.1367G>T c.*492G>T (n.*492G>T) c.1375G>T (p.Gly459Trp) c.1252G>T (p.Gly418Trp) c.1198G>T (p.Gly400Trp) c.1018G>T (p.Gly340Trp) c.967G>T (p.Gly323Trp) c.1645G>T (p.Gly549Trp) c.1294G>T (p.Gly432Trp) c.1594G>T (p.Gly532Trp) | |
2 | g.120978459G>A | CA348161423 | GLI2 | c.1343G>A (p.Gly448Glu) c.1394G>A (p.Gly465Glu) c.407G>A (p.Gly136Glu) c.*442G>A (n.*442G>A) n.1368G>A c.*493G>A (n.*493G>A) c.1376G>A (p.Gly459Glu) c.1253G>A (p.Gly418Glu) c.1199G>A (p.Gly400Glu) c.1019G>A (p.Gly340Glu) c.968G>A (p.Gly323Glu) c.1646G>A (p.Gly549Glu) c.1295G>A (p.Gly432Glu) c.1595G>A (p.Gly532Glu) | |
2 | g.120978459G>C | CA348161425 | GLI2 | c.1343G>C (p.Gly448Ala) c.1394G>C (p.Gly465Ala) c.407G>C (p.Gly136Ala) c.*442G>C (n.*442G>C) n.1368G>C c.*493G>C (n.*493G>C) c.1376G>C (p.Gly459Ala) c.1253G>C (p.Gly418Ala) c.1199G>C (p.Gly400Ala) c.1019G>C (p.Gly340Ala) c.968G>C (p.Gly323Ala) c.1646G>C (p.Gly549Ala) c.1295G>C (p.Gly432Ala) c.1595G>C (p.Gly532Ala) | |
2 | g.120978459G>T | CA348161424 | GLI2 | c.1343G>T (p.Gly448Val) c.1394G>T (p.Gly465Val) c.407G>T (p.Gly136Val) c.*442G>T (n.*442G>T) n.1368G>T c.*493G>T (n.*493G>T) c.1376G>T (p.Gly459Val) c.1253G>T (p.Gly418Val) c.1199G>T (p.Gly400Val) c.1019G>T (p.Gly340Val) c.968G>T (p.Gly323Val) c.1646G>T (p.Gly549Val) c.1295G>T (p.Gly432Val) c.1595G>T (p.Gly532Val) | dbSNP |
2 | g.120978460G>A | CA1851892 | GLI2 | c.1344G>A (p.Gly448=) c.1395G>A (p.Gly465=) c.408G>A (p.Gly136=) c.*443G>A (n.*443G>A) n.1369G>A c.*494G>A (n.*494G>A) c.1377G>A (p.Gly459=) c.1254G>A (p.Gly418=) c.1200G>A (p.Gly400=) c.1020G>A (p.Gly340=) c.969G>A (p.Gly323=) c.1647G>A (p.Gly549=) c.1296G>A (p.Gly432=) c.1596G>A (p.Gly532=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.120978460G>C | CA428229913 | GLI2 | c.1344G>C (p.Gly448=) c.1395G>C (p.Gly465=) c.408G>C (p.Gly136=) c.*443G>C (n.*443G>C) n.1369G>C c.*494G>C (n.*494G>C) c.1377G>C (p.Gly459=) c.1254G>C (p.Gly418=) c.1200G>C (p.Gly400=) c.1020G>C (p.Gly340=) c.969G>C (p.Gly323=) c.1647G>C (p.Gly549=) c.1296G>C (p.Gly432=) c.1596G>C (p.Gly532=) | |
2 | g.120978460G= | CA1283790655 | GLI2 | c.1344G= (p.Gly448=) c.1395G= (p.Gly465=) c.408G= (p.Gly136=) c.*443G= (n.*443G=) n.1369G= c.*494G= (n.*494G=) c.1377G= (p.Gly459=) c.1254G= (p.Gly418=) c.1200G= (p.Gly400=) c.1020G= (p.Gly340=) c.969G= (p.Gly323=) c.1647G= (p.Gly549=) c.1296G= (p.Gly432=) c.1596G= (p.Gly532=) | |
2 | g.120978460G>T | CA428229914 | GLI2 | c.1344G>T (p.Gly448=) c.1395G>T (p.Gly465=) c.408G>T (p.Gly136=) c.*443G>T (n.*443G>T) n.1369G>T c.*494G>T (n.*494G>T) c.1377G>T (p.Gly459=) c.1254G>T (p.Gly418=) c.1200G>T (p.Gly400=) c.1020G>T (p.Gly340=) c.969G>T (p.Gly323=) c.1647G>T (p.Gly549=) c.1296G>T (p.Gly432=) c.1596G>T (p.Gly532=) | |
2 | g.120978461G>A | CA1851893 | GLI2 | c.1345G>A (p.Glu449Lys) c.1396G>A (p.Glu466Lys) c.409G>A (p.Glu137Lys) c.*444G>A (n.*444G>A) n.1370G>A c.*495G>A (n.*495G>A) c.1378G>A (p.Glu460Lys) c.1255G>A (p.Glu419Lys) c.1201G>A (p.Glu401Lys) c.1021G>A (p.Glu341Lys) c.970G>A (p.Glu324Lys) c.1648G>A (p.Glu550Lys) c.1297G>A (p.Glu433Lys) c.1597G>A (p.Glu533Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.120978461G>C | CA348161426 | GLI2 | c.1345G>C (p.Glu449Gln) c.1396G>C (p.Glu466Gln) c.409G>C (p.Glu137Gln) c.*444G>C (n.*444G>C) n.1370G>C c.*495G>C (n.*495G>C) c.1378G>C (p.Glu460Gln) c.1255G>C (p.Glu419Gln) c.1201G>C (p.Glu401Gln) c.1021G>C (p.Glu341Gln) c.970G>C (p.Glu324Gln) c.1648G>C (p.Glu550Gln) c.1297G>C (p.Glu433Gln) c.1597G>C (p.Glu533Gln) | |
2 | g.120978461G= | CA1283790656 | GLI2 | c.1345G= (p.Glu449=) c.1396G= (p.Glu466=) c.409G= (p.Glu137=) c.*444G= (n.*444G=) n.1370G= c.*495G= (n.*495G=) c.1378G= (p.Glu460=) c.1255G= (p.Glu419=) c.1201G= (p.Glu401=) c.1021G= (p.Glu341=) c.970G= (p.Glu324=) c.1648G= (p.Glu550=) c.1297G= (p.Glu433=) c.1597G= (p.Glu533=) | |
2 | g.120978461G>T | CA348161427 | GLI2 | c.1345G>T (p.Glu449Ter) c.1396G>T (p.Glu466Ter) c.409G>T (p.Glu137Ter) c.*444G>T (n.*444G>T) n.1370G>T c.*495G>T (n.*495G>T) c.1378G>T (p.Glu460Ter) c.1255G>T (p.Glu419Ter) c.1201G>T (p.Glu401Ter) c.1021G>T (p.Glu341Ter) c.970G>T (p.Glu324Ter) c.1648G>T (p.Glu550Ter) c.1297G>T (p.Glu433Ter) c.1597G>T (p.Glu533Ter) | COSMIC |
2 | g.120978461_120978464delinsGAGA | CA1283790657 | GLI2 | c.1345_1348delinsGAGA (p.Glu449=) c.1396_1399delinsGAGA (p.Glu466=) c.409_412delinsGAGA (p.Glu137=) c.*444_*447delinsGAGA (n.*444_*447delinsGAGA) n.1370_1373delinsGAGA c.*495_*498delinsGAGA (n.*495_*498delinsGAGA) c.1378_1381delinsGAGA (p.Glu460=) c.1255_1258delinsGAGA (p.Glu419=) c.1201_1204delinsGAGA (p.Glu401=) c.1021_1024delinsGAGA (p.Glu341=) c.970_973delinsGAGA (p.Glu324=) c.1648_1651delinsGAGA (p.Glu550=) c.1297_1300delinsGAGA (p.Glu433=) c.1597_1600delinsGAGA (p.Glu533=) | |
2 | g.120978462A>C | CA348161430 | GLI2 | c.1346A>C (p.Glu449Ala) c.1397A>C (p.Glu466Ala) c.410A>C (p.Glu137Ala) c.*445A>C (n.*445A>C) n.1371A>C c.*496A>C (n.*496A>C) c.1379A>C (p.Glu460Ala) c.1256A>C (p.Glu419Ala) c.1202A>C (p.Glu401Ala) c.1022A>C (p.Glu341Ala) c.971A>C (p.Glu324Ala) c.1649A>C (p.Glu550Ala) c.1298A>C (p.Glu433Ala) c.1598A>C (p.Glu533Ala) | |
2 | g.120978462A>G | CA348161429 | GLI2 | c.1346A>G (p.Glu449Gly) c.1397A>G (p.Glu466Gly) c.410A>G (p.Glu137Gly) c.*445A>G (n.*445A>G) n.1371A>G c.*496A>G (n.*496A>G) c.1379A>G (p.Glu460Gly) c.1256A>G (p.Glu419Gly) c.1202A>G (p.Glu401Gly) c.1022A>G (p.Glu341Gly) c.971A>G (p.Glu324Gly) c.1649A>G (p.Glu550Gly) c.1298A>G (p.Glu433Gly) c.1598A>G (p.Glu533Gly) | |
2 | g.120978462A>T | CA348161428 | GLI2 | c.1346A>T (p.Glu449Val) c.1397A>T (p.Glu466Val) c.410A>T (p.Glu137Val) c.*445A>T (n.*445A>T) n.1371A>T c.*496A>T (n.*496A>T) c.1379A>T (p.Glu460Val) c.1256A>T (p.Glu419Val) c.1202A>T (p.Glu401Val) c.1022A>T (p.Glu341Val) c.971A>T (p.Glu324Val) c.1649A>T (p.Glu550Val) c.1298A>T (p.Glu433Val) c.1598A>T (p.Glu533Val) | |
2 | g.120978467_120978469del | CA645539539 | GLI2 | c.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 |
2 | g.120978463G>A | CA428229915 | GLI2 | c.1347G>A (p.Glu449=) c.1398G>A (p.Glu466=) c.411G>A (p.Glu137=) c.*446G>A (n.*446G>A) n.1372G>A c.*497G>A (n.*497G>A) c.1380G>A (p.Glu460=) c.1257G>A (p.Glu419=) c.1203G>A (p.Glu401=) c.1023G>A (p.Glu341=) c.972G>A (p.Glu324=) c.1650G>A (p.Glu550=) c.1299G>A (p.Glu433=) c.1599G>A (p.Glu533=) | |
2 | g.120978463G>C | CA348161431 | GLI2 | c.1347G>C (p.Glu449Asp) c.1398G>C (p.Glu466Asp) c.411G>C (p.Glu137Asp) c.*446G>C (n.*446G>C) n.1372G>C c.*497G>C (n.*497G>C) c.1380G>C (p.Glu460Asp) c.1257G>C (p.Glu419Asp) c.1203G>C (p.Glu401Asp) c.1023G>C (p.Glu341Asp) c.972G>C (p.Glu324Asp) c.1650G>C (p.Glu550Asp) c.1299G>C (p.Glu433Asp) c.1599G>C (p.Glu533Asp) | |
2 | g.120978463G>T | CA348161432 | GLI2 | c.1347G>T (p.Glu449Asp) c.1398G>T (p.Glu466Asp) c.411G>T (p.Glu137Asp) c.*446G>T (n.*446G>T) n.1372G>T c.*497G>T (n.*497G>T) c.1380G>T (p.Glu460Asp) c.1257G>T (p.Glu419Asp) c.1203G>T (p.Glu401Asp) c.1023G>T (p.Glu341Asp) c.972G>T (p.Glu324Asp) c.1650G>T (p.Glu550Asp) c.1299G>T (p.Glu433Asp) c.1599G>T (p.Glu533Asp) | |
2 | g.120978464A>C | CA348161433 | GLI2 | c.1348A>C (p.Lys450Gln) c.1399A>C (p.Lys467Gln) c.412A>C (p.Lys138Gln) c.*447A>C (n.*447A>C) n.1373A>C c.*498A>C (n.*498A>C) c.1381A>C (p.Lys461Gln) c.1258A>C (p.Lys420Gln) c.1204A>C (p.Lys402Gln) c.1024A>C (p.Lys342Gln) c.973A>C (p.Lys325Gln) c.1651A>C (p.Lys551Gln) c.1300A>C (p.Lys434Gln) c.1600A>C (p.Lys534Gln) | |
2 | g.120978464A>G | CA348161435 | GLI2 | c.1348A>G (p.Lys450Glu) c.1399A>G (p.Lys467Glu) c.412A>G (p.Lys138Glu) c.*447A>G (n.*447A>G) n.1373A>G c.*498A>G (n.*498A>G) c.1381A>G (p.Lys461Glu) c.1258A>G (p.Lys420Glu) c.1204A>G (p.Lys402Glu) c.1024A>G (p.Lys342Glu) c.973A>G (p.Lys325Glu) c.1651A>G (p.Lys551Glu) c.1300A>G (p.Lys434Glu) c.1600A>G (p.Lys534Glu) | |
2 | g.120978464A>T | CA348161434 | GLI2 | c.1348A>T (p.Lys450Ter) c.1399A>T (p.Lys467Ter) c.412A>T (p.Lys138Ter) c.*447A>T (n.*447A>T) n.1373A>T c.*498A>T (n.*498A>T) c.1381A>T (p.Lys461Ter) c.1258A>T (p.Lys420Ter) c.1204A>T (p.Lys402Ter) c.1024A>T (p.Lys342Ter) c.973A>T (p.Lys325Ter) c.1651A>T (p.Lys551Ter) c.1300A>T (p.Lys434Ter) c.1600A>T (p.Lys534Ter) | |
2 | g.120978464_120978465del | CA2660920929 | GLI2 | c.1348_1349del (p.Lys450GlufsTer?) c.1399_1400del (p.Lys467GlufsTer?) c.412_413del (p.Lys138GlufsTer?) c.*447_*448del (n.*447_*448del) n.1373_1374del c.*498_*499del (n.*498_*499del) c.1381_1382del (p.Lys461GlufsTer?) c.1258_1259del (p.Lys420GlufsTer?) c.1204_1205del (p.Lys402GlufsTer?) c.1024_1025del (p.Lys342GlufsTer?) c.973_974del (p.Lys325GlufsTer?) c.1651_1652del (p.Lys551GlufsTer?) c.1300_1301del (p.Lys434GlufsTer?) c.1600_1601del (p.Lys534GlufsTer?) | gnomAD v4 |
2 | g.120978464_120978465insGGCTC | CA2751944010 | GLI2 | c.1348_1349insGGCTC (p.Lys450ArgfsTer?) c.1399_1400insGGCTC (p.Lys467ArgfsTer?) c.412_413insGGCTC (p.Lys138ArgfsTer?) c.*447_*448insGGCTC (n.*447_*448insGGCTC) n.1373_1374insGGCTC c.*498_*499insGGCTC (n.*498_*499insGGCTC) c.1381_1382insGGCTC (p.Lys461ArgfsTer?) c.1258_1259insGGCTC (p.Lys420ArgfsTer?) c.1204_1205insGGCTC (p.Lys402ArgfsTer?) c.1024_1025insGGCTC (p.Lys342ArgfsTer?) c.973_974insGGCTC (p.Lys325ArgfsTer?) c.1651_1652insGGCTC (p.Lys551ArgfsTer?) c.1300_1301insGGCTC (p.Lys434ArgfsTer?) c.1600_1601insGGCTC (p.Lys534ArgfsTer?) | |
2 | g.120978465A= | CA1283790658 | GLI2 | c.1349A= (p.Lys450=) c.1400A= (p.Lys467=) c.413A= (p.Lys138=) c.*448A= (n.*448A=) n.1374A= c.*499A= (n.*499A=) c.1382A= (p.Lys461=) c.1259A= (p.Lys420=) c.1205A= (p.Lys402=) c.1025A= (p.Lys342=) c.974A= (p.Lys325=) c.1652A= (p.Lys551=) c.1301A= (p.Lys434=) c.1601A= (p.Lys534=) | |
2 | g.120978465A>C | CA1851894 | GLI2 | c.1349A>C (p.Lys450Thr) c.1400A>C (p.Lys467Thr) c.413A>C (p.Lys138Thr) c.*448A>C (n.*448A>C) n.1374A>C c.*499A>C (n.*499A>C) c.1382A>C (p.Lys461Thr) c.1259A>C (p.Lys420Thr) c.1205A>C (p.Lys402Thr) c.1025A>C (p.Lys342Thr) c.974A>C (p.Lys325Thr) c.1652A>C (p.Lys551Thr) c.1301A>C (p.Lys434Thr) c.1601A>C (p.Lys534Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.120978465A>G | CA348161436 | GLI2 | c.1349A>G (p.Lys450Arg) c.1400A>G (p.Lys467Arg) c.413A>G (p.Lys138Arg) c.*448A>G (n.*448A>G) n.1374A>G c.*499A>G (n.*499A>G) c.1382A>G (p.Lys461Arg) c.1259A>G (p.Lys420Arg) c.1205A>G (p.Lys402Arg) c.1025A>G (p.Lys342Arg) c.974A>G (p.Lys325Arg) c.1652A>G (p.Lys551Arg) c.1301A>G (p.Lys434Arg) c.1601A>G (p.Lys534Arg) | |
2 | g.120978465A>T | CA348161437 | GLI2 | c.1349A>T (p.Lys450Met) c.1400A>T (p.Lys467Met) c.413A>T (p.Lys138Met) c.*448A>T (n.*448A>T) n.1374A>T c.*499A>T (n.*499A>T) c.1382A>T (p.Lys461Met) c.1259A>T (p.Lys420Met) c.1205A>T (p.Lys402Met) c.1025A>T (p.Lys342Met) c.974A>T (p.Lys325Met) c.1652A>T (p.Lys551Met) c.1301A>T (p.Lys434Met) c.1601A>T (p.Lys534Met) | |
2 | g.120978465_120978466insTACTCCAGGTAGGGACG | CA2751944011 | GLI2 | c.1349_1350insTACTCCAGGTAGGGACG (p.Lys450AsnfsTer?) c.1400_1401insTACTCCAGGTAGGGACG (p.Lys467AsnfsTer?) c.413_414insTACTCCAGGTAGGGACG (p.Lys138AsnfsTer?) c.*448_*449insTACTCCAGGTAGGGACG (n.*448_*449insTACTCCAGGTAGGGACG) n.1374_1375insTACTCCAGGTAGGGACG c.*499_*500insTACTCCAGGTAGGGACG (n.*499_*500insTACTCCAGGTAGGGACG) c.1382_1383insTACTCCAGGTAGGGACG (p.Lys461AsnfsTer?) c.1259_1260insTACTCCAGGTAGGGACG (p.Lys420AsnfsTer?) c.1205_1206insTACTCCAGGTAGGGACG (p.Lys402AsnfsTer?) c.1025_1026insTACTCCAGGTAGGGACG (p.Lys342AsnfsTer?) c.974_975insTACTCCAGGTAGGGACG (p.Lys325AsnfsTer?) c.1652_1653insTACTCCAGGTAGGGACG (p.Lys551AsnfsTer?) c.1301_1302insTACTCCAGGTAGGGACG (p.Lys434AsnfsTer?) c.1601_1602insTACTCCAGGTAGGGACG (p.Lys534AsnfsTer?) | |
2 | g.120978466G>A | CA428229916 | GLI2 | c.1350G>A (p.Lys450=) c.1401G>A (p.Lys467=) c.414G>A (p.Lys138=) c.*449G>A (n.*449G>A) n.1375G>A c.*500G>A (n.*500G>A) c.1383G>A (p.Lys461=) c.1260G>A (p.Lys420=) c.1206G>A (p.Lys402=) c.1026G>A (p.Lys342=) c.975G>A (p.Lys325=) c.1653G>A (p.Lys551=) c.1302G>A (p.Lys434=) c.1602G>A (p.Lys534=) | |
2 | g.120978466G>C | CA348161438 | GLI2 | c.1350G>C (p.Lys450Asn) c.1401G>C (p.Lys467Asn) c.414G>C (p.Lys138Asn) c.*449G>C (n.*449G>C) n.1375G>C c.*500G>C (n.*500G>C) c.1383G>C (p.Lys461Asn) c.1260G>C (p.Lys420Asn) c.1206G>C (p.Lys402Asn) c.1026G>C (p.Lys342Asn) c.975G>C (p.Lys325Asn) c.1653G>C (p.Lys551Asn) c.1302G>C (p.Lys434Asn) c.1602G>C (p.Lys534Asn) | |
2 | g.120978466G>T | CA348161439 | GLI2 | c.1350G>T (p.Lys450Asn) c.1401G>T (p.Lys467Asn) c.414G>T (p.Lys138Asn) c.*449G>T (n.*449G>T) n.1375G>T c.*500G>T (n.*500G>T) c.1383G>T (p.Lys461Asn) c.1260G>T (p.Lys420Asn) c.1206G>T (p.Lys402Asn) c.1026G>T (p.Lys342Asn) c.975G>T (p.Lys325Asn) c.1653G>T (p.Lys551Asn) c.1302G>T (p.Lys434Asn) c.1602G>T (p.Lys534Asn) | |
2 | g.120978467A>C | CA348161440 | GLI2 | c.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) | |
2 | g.120978467A>G | CA348161441 | GLI2 | c.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) | |
2 | g.120978467A>T | CA348161442 | GLI2 | c.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) | |
2 | g.120978468A>C | CA348161443 | GLI2 | c.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) | |
2 | g.120978468A>G | CA348161444 | GLI2 | c.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) | |
2 | g.120978468A>T | CA348161445 | GLI2 | c.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) | |
2 | g.120978469G>A | CA54373166 | GLI2 | c.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 |
2 | g.120978469G>C | CA348161446 | GLI2 | c.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) | |
2 | g.120978469G= | CA1283790659 | GLI2 | c.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=) | |
2 | g.120978469G>T | CA348161447 | GLI2 | c.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) | |
2 | g.120978470G>A | CA348161448 | GLI2 | c.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) | |
2 | g.120978470G>C | CA348161450 | GLI2 | c.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 |
2 | g.120978470G>T | CA348161449 | GLI2 | c.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) | |
2 | g.120978471A>C | CA348161451 | GLI2 | c.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) | |
2 | g.120978471A>G | CA348161452 | GLI2 | c.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) | |
2 | g.120978471A>T | CA348161453 | GLI2 | c.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) | |
2 | g.120978472G>A | CA428229917 | GLI2 | c.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=) | |
2 | g.120978472G>C | CA348161454 | GLI2 | c.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) | |
2 | g.120978472G>T | CA348161455 | GLI2 | c.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) | |
2 | g.120978473T>A | CA348161456 | GLI2 | c.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) | |
2 | g.120978473T>C | CA348161457 | GLI2 | c.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) | |
2 | g.120978473T>G | CA348161458 | GLI2 | c.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) | |
2 | g.120978474T>A | CA348161459 | GLI2 | c.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) | |
2 | g.120978474T>C | CA348161460 | GLI2 | c.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 |
2 | g.120978474T>G | CA348161461 | GLI2 | c.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) | |
2 | g.120978474T= | CA1283790660 | GLI2 | c.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=) | |
2 | g.120978475T>A | CA348161462 | GLI2 | c.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) | |
2 | g.120978475T>C | CA428229918 | GLI2 | c.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 |
2 | g.120978475T>G | CA348161463 | GLI2 | c.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) | |
2 | g.120978475T= | CA1283790661 | GLI2 | c.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=) | |
2 | g.120978476G>A | CA348161464 | GLI2 | c.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) | |
2 | g.120978476G>C | CA348161465 | GLI2 | c.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) | |
2 | g.120978476G>T | CA348161466 | GLI2 | c.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 |
2 | g.120978477T>A | CA348161467 | GLI2 | c.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) | |
2 | g.120978477T>C | CA348161468 | GLI2 | c.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) | |
2 | g.120978477T>G | CA348161469 | GLI2 | c.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) | |
2 | g.120978478G>A | CA428229919 | GLI2 | c.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=) | |
2 | g.120978478G>C | CA428229920 | GLI2 | c.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 |
2 | g.120978478G>T | CA428229921 | GLI2 | c.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=) | |
2 | g.120978479T>A | CA348161472 | GLI2 | c.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) | |
2 | g.120978479T>C | CA348161470 | GLI2 | c.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) | |
2 | g.120978479T>G | CA348161471 | GLI2 | c.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) | |
2 | g.120978480G>A | CA348161473 | GLI2 | c.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) | |
2 | g.120978480G>C | CA348161474 | GLI2 | c.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) | |
2 | g.120978480G>T | CA348161475 | GLI2 | c.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) | |
2 | g.120978481C>A | CA348161476 | GLI2 | c.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) | |
2 | g.120978481C>G | CA348161477 | GLI2 | c.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) | |
2 | g.120978481C>T | CA428229922 | GLI2 | c.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 |
2 | g.120978482C>A | CA348161478 | GLI2 | c.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) | |
2 | g.120978482C= | CA1283790662 | GLI2 | c.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=) | |
2 | g.120978482C>G | CA348161479 | GLI2 | c.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 |
2 | g.120978482C>T | CA1851895 | GLI2 | c.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 |
2 | g.120978483G>A | CA1851896 | GLI2 | c.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 |
2 | g.120978483G>C | CA348161480 | GLI2 | c.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) | |
2 | g.120978483G= | CA1283790663 | GLI2 | c.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=) | |
2 | g.120978483G>T | CA1851897 | GLI2 | c.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 |
2 | g.120978484C>A | CA428229923 | GLI2 | c.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=) | |
2 | g.120978484C= | CA1283790664 | GLI2 | c.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=) | |
2 | g.120978484C>G | CA428229924 | GLI2 | c.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=) | |
2 | g.120978484C>T | CA1851898 | GLI2 | c.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 |
2 | g.120978485T>A | CA348161481 | GLI2 | c.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) | |
2 | g.120978485T>C | CA348161482 | GLI2 | c.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) | |
2 | g.120978485T>G | CA348161483 | GLI2 | c.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 |
2 | g.120978486G>A | CA348161484 | GLI2 | c.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 |
2 | g.120978486G>C | CA348161485 | GLI2 | c.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) | |
2 | g.120978486G= | CA1283790665 | GLI2 | c.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=) | |
2 | g.120978486G>T | CA348161486 | GLI2 | c.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 |
2 | g.120978487G>A | CA348161489 | GLI2 | c.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) | |
2 | g.120978487G>C | CA348161488 | GLI2 | c.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) | |
2 | g.120978487G>T | CA348161487 | GLI2 | c.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) | |
2 | g.120978488C>A | CA348161490 | GLI2 | c.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 |
2 | g.120978488C>G | CA348161492 | GLI2 | c.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) | |
2 | g.120978488C>T | CA348161491 | GLI2 | c.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 |
2 | g.120978489A= | CA1283790666 | GLI2 | c.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=) | |
2 | g.120978489A>C | CA348161493 | GLI2 | c.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) | |
2 | g.120978489A>G | CA348161494 | GLI2 | c.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 |
2 | g.120978489A>T | CA348161495 | GLI2 | c.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 |
2 | g.120978490G>A | CA428229925 | GLI2 | c.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 |
2 | g.120978490G>C | CA348161496 | GLI2 | c.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) | |
2 | g.120978490G>T | CA348161497 | GLI2 | c.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) | |
2 | g.120978491G>A | CA348161498 | GLI2 | c.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 |
2 | g.120978491G>C | CA348161499 | GLI2 | c.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 |
2 | g.120978491G= | CA1283790667 | GLI2 | c.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=) | |
2 | g.120978491G>T | CA1851899 | GLI2 | c.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 |
2 | g.120978492C>A | CA348161500 | GLI2 | c.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) | |
2 | g.120978492C>G | CA348161501 | GLI2 | c.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 |
2 | g.120978492C>T | CA348161502 | GLI2 | c.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 |
2 | g.120978493C>A | CA428229926 | GLI2 | c.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=) | |
2 | g.120978493C= | CA1283790668 | GLI2 | c.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=) | |
2 | g.120978493C>G | CA428229927 | GLI2 | c.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=) | |
2 | g.120978493C>T | CA1851900 | GLI2 | c.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 |
2 | g.120978494T>A | CA348161505 | GLI2 | c.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) | |
2 | g.120978494T>C | CA348161503 | GLI2 | c.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 |
2 | g.120978494T>G | CA348161504 | GLI2 | c.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) | |
2 | g.120978495G>A | CA348161506 | GLI2 | c.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 |
2 | g.120978495G>C | CA348161507 | GLI2 | c.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) | |
2 | g.120978495G>T | CA348161508 | GLI2 | c.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) | |
2 | g.120978495_120978496insTT | CA2532147629 | GLI2 | c.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?) | |
2 | g.120978496C>A | CA348161509 | GLI2 | c.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) | |
2 | g.120978496C>G | CA348161510 | GLI2 | c.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) | |
2 | g.120978496C>T | CA428229928 | GLI2 | c.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 |
2 | g.120978497A>C | CA348161511 | GLI2 | c.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) | |
2 | g.120978497A>G | CA348161512 | GLI2 | c.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 |
2 | g.120978497A>T | CA348161513 | GLI2 | c.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) | |
2 | g.120978498C>A | CA348161514 | GLI2 | c.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) | |
2 | g.120978498C= | CA1283790669 | GLI2 | c.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=) | |
2 | g.120978498C>G | CA348161515 | GLI2 | c.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) | |
2 | g.120978498C>T | CA1851901 | GLI2 | c.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 |
2 | g.120978499G>A | CA1851902 | GLI2 | c.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 |
2 | g.120978499G>C | CA428229929 | GLI2 | c.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=) | |
2 | g.120978499G= | CA1283790670 | GLI2 | c.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=) | |
2 | g.120978499G>T | CA428229930 | GLI2 | c.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=) | |
2 | g.120978500C>A | CA428229931 | GLI2 | c.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=) | |
2 | g.120978500C= | CA1283790671 | GLI2 | c.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=) | |
2 | g.120978500C>G | CA256990 | GLI2 | c.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 |
2 | g.120978500C>T | CA1851903 | GLI2 | c.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 |
2 | g.120978501G>A | CA1851904 | GLI2 | c.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 |
2 | g.120978501G>C | CA348161516 | GLI2 | c.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) | |
2 | g.120978501G= | CA1283790672 | GLI2 | c.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=) | |
2 | g.120978501G>T | CA348161517 | GLI2 | c.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) | |
2 | g.120978502_120978503del | CA2751944012 | GLI2 | c.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?) | |
2 | g.120978502G>A | CA428229934 | GLI2 | c.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 |
2 | g.120978502G>C | CA428229932 | GLI2 | c.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=) | |
2 | g.120978502G>T | CA428229933 | GLI2 | c.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=) | |
2 | g.120978503G>A | CA348161518 | GLI2 | c.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 |
2 | g.120978503G>C | CA348161519 | GLI2 | c.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) | |
2 | g.120978503G= | CA1283790673 | GLI2 | c.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=) | |
2 | g.120978503G>T | CA348161520 | GLI2 | c.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) | |
2 | g.120978504A>C | CA348161523 | GLI2 | c.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) | |
2 | g.120978504A>G | CA348161521 | GLI2 | c.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) | |
2 | g.120978504A>T | CA348161522 | GLI2 | c.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) | |
2 | g.120978505G>A | CA428229935 | GLI2 | c.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 |
2 | g.120978505G>C | CA348161524 | GLI2 | c.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) | |
2 | g.120978505G>T | CA348161525 | GLI2 | c.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) | |
2 | g.120978506C>A | CA348161526 | GLI2 | c.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) | |
2 | g.120978506C>G | CA348161527 | GLI2 | c.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) | |
2 | g.120978506C>T | CA348161528 | GLI2 | c.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) | |
2 | g.120978507A= | CA1283790674 | GLI2 | c.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=) | |
2 | g.120978507A>C | CA348161529 | GLI2 | c.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) | |
2 | g.120978507A>G | CA1851905 | GLI2 | c.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 |
2 | g.120978507A>T | CA348161530 | GLI2 | c.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) | |
2 | g.120978508G>A | CA428229936 | GLI2 | c.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=) | |
2 | g.120978508G>C | CA348161531 | GLI2 | c.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) | |
2 | g.120978508G>T | CA348161532 | GLI2 | c.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) | |
2 | g.120978509A= | CA1283790675 | GLI2 | c.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=) | |
2 | g.120978509A>C | CA348161533 | GLI2 | c.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) | |
2 | g.120978509A>G | CA348161534 | GLI2 | c.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 |
2 | g.120978509A>T | CA348161535 | GLI2 | c.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 |
2 | g.120978510A= | CA1283790676 | GLI2 | c.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=) | |
2 | g.120978510A>C | CA1851906 | GLI2 | c.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 |
2 | g.120978510A>G | CA348161536 | GLI2 | c.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) | |
2 | g.120978510A>T | CA348161537 | GLI2 | c.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) | |
2 | g.120978511G>A | CA428229937 | GLI2 | c.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=) | |
2 | g.120978511G>C | CA348161538 | GLI2 | c.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) | |
2 | g.120978511G>T | CA348161539 | GLI2 | c.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) | |
2 | g.120978512C>A | CA54373283 | GLI2 | c.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 |
2 | g.120978512C= | CA1283790677 | GLI2 | c.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=) | |
2 | g.120978512C>G | CA348161541 | GLI2 | c.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) | |
2 | g.120978512C>T | CA348161540 | GLI2 | c.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 |
2 | g.120978513C>A | CA348161542 | GLI2 | c.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) | |
2 | g.120978513C>G | CA348161544 | GLI2 | c.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) | |
2 | g.120978513C>T | CA348161543 | GLI2 | c.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) | |
2 | g.120978514C>A | CA428229938 | GLI2 | c.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 |
2 | g.120978514C= | CA1283790678 | GLI2 | c.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=) | |
2 | g.120978514C>G | CA1851907 | GLI2 | c.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 |
2 | g.120978514C>T | CA428229939 | GLI2 | c.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 |
2 | g.120978515T>A | CA348161547 | GLI2 | c.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) | |
2 | g.120978515T>C | CA348161545 | GLI2 | c.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) | |
2 | g.120978515T>G | CA348161546 | GLI2 | c.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) | |
2 | g.120978516T>A | CA348161548 | GLI2 | c.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) | |
2 | g.120978516T>C | CA348161549 | GLI2 | c.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) | |
2 | g.120978516T>G | CA348161550 | GLI2 | c.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 |
2 | g.120978517C>A | CA348161551 | GLI2 | c.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) | |
2 | g.120978517C>G | CA348161552 | GLI2 | c.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) | |
2 | g.120978517C>T | CA428229940 | GLI2 | c.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=) | |
2 | g.120978518A>C | CA348161553 | GLI2 | c.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) | |
2 | g.120978518A>G | CA348161554 | GLI2 | c.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) | |
2 | g.120978518A>T | CA348161555 | GLI2 | c.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) | |
2 | g.120978519A>C | CA348161556 | GLI2 | c.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) | |
2 | g.120978519A>G | CA348161557 | GLI2 | c.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) | |
2 | g.120978519A>T | CA348161558 | GLI2 | c.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) | |
2 | g.120978520G>A | CA428229941 | GLI2 | c.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=) | |
2 | g.120978520G>C | CA348161560 | GLI2 | c.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) | |
2 | g.120978520G>T | CA348161559 | GLI2 | c.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) | |
2 | g.120978521G>A | CA348161561 | GLI2 | c.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) | |
2 | g.120978521G>C | CA348161562 | GLI2 | c.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) | |
2 | g.120978521G>T | CA348161563 | GLI2 | c.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) | |
2 | g.120978522C>A | CA348161564 | GLI2 | c.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) | |
2 | g.120978522C= | CA1283790679 | GLI2 | c.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=) | |
2 | g.120978522C>G | CA348161565 | GLI2 | c.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) | |
2 | g.120978522C>T | CA1851908 | GLI2 | c.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 |
2 | g.120978523G>A | CA1851909 | GLI2 | c.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 |
2 | g.120978523G>C | CA428229943 | GLI2 | c.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=) | |
2 | g.120978523G= | CA1283790680 | GLI2 | c.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=) | |
2 | g.120978523G>T | CA428229942 | GLI2 | c.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=) | |
2 | g.120978524C>A | CA348161566 | GLI2 | c.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) | |
2 | g.120978524C>G | CA348161567 | GLI2 | c.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) | |
2 | g.120978524C>T | CA348161568 | GLI2 | c.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) | |
2 | g.120978525A>C | CA348161569 | GLI2 | c.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 |
2 | g.120978525A>G | CA348161570 | GLI2 | c.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) | |
2 | g.120978525A>T | CA348161571 | GLI2 | c.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 |