WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.55228985_55228988delinsCCCG | CA2305004846 | TCF4 | c.1738_1741delinsCGGG (p.Arg580=) c.1618_1621delinsCGGG (p.Arg540=) n.1418_1421delinsCGGG c.1666_1669delinsCGGG (p.Arg556=) c.*1446_*1449delinsCGGG (n.*1446_*1449delinsCGGG) c.1348_1351delinsCGGG (p.Arg450=) c.*1616_*1619delinsCGGG (n.*1616_*1619delinsCGGG) c.1090_1093delinsCGGG (p.Arg364=) n.1793_1796delinsCGGG n.1432_1435delinsCGGG c.1336_1339delinsCGGG c.1765_1768delinsCGGG (p.Arg589=) c.*1349_*1352delinsCGGG (n.*1349_*1352delinsCGGG) c.1726_1729delinsCGGG (p.Arg576=) c.2044_2047delinsCGGG (p.Arg682=) c.1258_1261delinsCGGG (p.Arg420=) c.1336_1339delinsCGGG (p.Arg446=) c.1654_1657delinsCGGG (p.Arg552=) c.1600_1603delinsCGGG (p.Arg534=) c.1525_1528delinsCGGG (p.Arg509=) c.1246_1249delinsCGGG (p.Arg416=) n.5261_5264delinsCGGG c.1513_1516delinsCGGG (p.Arg505=) c.1756_1759delinsCGGG (p.Arg586=) c.1474_1477delinsCGGG (p.Arg492=) c.1558_1561delinsCGGG (p.Arg520=) c.1717_1720delinsCGGG (p.Arg573=) c.1546_1549delinsCGGG (p.Arg516=) c.1651_1654delinsCGGG (p.Arg551=) n.761_764delinsCGGG c.1078_1081delinsCGGG (p.Arg360=) c.1735_1738delinsCGGG (p.Arg579=) c.1663_1666delinsCGGG (p.Arg555=) c.1612_1615delinsCGGG (p.Arg538=) c.1528_1531delinsCGGG (p.Arg510=) c.1255_1258delinsCGGG (p.Arg419=) c.2041_2044delinsCGGG (p.Arg681=) c.2032_2035delinsCGGG (p.Arg678=) c.2029_2032delinsCGGG (p.Arg677=) c.1732_1735delinsCGGG (p.Arg578=) c.1243_1246delinsCGGG (p.Arg415=) c.1723_1726delinsCGGG (p.Arg575=) c.1648_1651delinsCGGG (p.Arg550=) c.1609_1612delinsCGGG (p.Arg537=) c.1522_1525delinsCGGG (p.Arg508=) c.1516_1519delinsCGGG (p.Arg506=) c.1345_1348delinsCGGG (p.Arg449=) c.1501_1504delinsCGGG (p.Arg501=) c.1669_1672delinsCGGG (p.Arg557=) | |
| 18 | g.55228987_55228989del | CA915951555 | TCF4 | c.1738_1740del (p.Arg580del) c.1618_1620del (p.Arg540del) n.1418_1420del c.1666_1668del (p.Arg556del) c.*1446_*1448del (n.*1446_*1448del) c.1348_1350del (p.Arg450del) c.*1616_*1618del (n.*1616_*1618del) c.1090_1092del (p.Arg364del) n.1793_1795del n.1432_1434del c.1336_1338del c.1765_1767del (p.Arg589del) c.*1349_*1351del (n.*1349_*1351del) c.1726_1728del (p.Arg576del) c.2044_2046del (p.Arg682del) c.1258_1260del (p.Arg420del) c.1336_1338del (p.Arg446del) c.1654_1656del (p.Arg552del) c.1600_1602del (p.Arg534del) c.1525_1527del (p.Arg509del) c.1246_1248del (p.Arg416del) n.5261_5263del c.1513_1515del (p.Arg505del) c.1756_1758del (p.Arg586del) c.1474_1476del (p.Arg492del) c.1558_1560del (p.Arg520del) c.1717_1719del (p.Arg573del) c.1546_1548del (p.Arg516del) c.1651_1653del (p.Arg551del) n.761_763del c.1078_1080del (p.Arg360del) c.1735_1737del (p.Arg579del) c.1663_1665del (p.Arg555del) c.1612_1614del (p.Arg538del) c.1528_1530del (p.Arg510del) c.1255_1257del (p.Arg419del) c.2041_2043del (p.Arg681del) c.2032_2034del (p.Arg678del) c.2029_2031del (p.Arg677del) c.1732_1734del (p.Arg578del) c.1243_1245del (p.Arg415del) c.1723_1725del (p.Arg575del) c.1648_1650del (p.Arg550del) c.1609_1611del (p.Arg537del) c.1522_1524del (p.Arg508del) c.1516_1518del (p.Arg506del) c.1345_1347del (p.Arg449del) c.1501_1503del (p.Arg501del) c.1669_1671del (p.Arg557del) | ClinVar dbSNP |
| 18 | g.55228988G>A | CA254160 | TCF4 | c.1738C>T (p.Arg580Trp) c.1618C>T (p.Arg540Trp) n.1418C>T c.1666C>T (p.Arg556Trp) c.*1446C>T (n.*1446C>T) c.1348C>T (p.Arg450Trp) c.*1616C>T (n.*1616C>T) c.1090C>T (p.Arg364Trp) n.1793C>T n.1432C>T c.1336C>T c.1765C>T (p.Arg589Trp) c.*1349C>T (n.*1349C>T) c.1726C>T (p.Arg576Trp) c.2044C>T (p.Arg682Trp) c.1258C>T (p.Arg420Trp) c.1336C>T (p.Arg446Trp) c.1654C>T (p.Arg552Trp) c.1600C>T (p.Arg534Trp) c.1525C>T (p.Arg509Trp) c.1246C>T (p.Arg416Trp) n.5261C>T c.1513C>T (p.Arg505Trp) c.1756C>T (p.Arg586Trp) c.1474C>T (p.Arg492Trp) c.1558C>T (p.Arg520Trp) c.1717C>T (p.Arg573Trp) c.1546C>T (p.Arg516Trp) c.1651C>T (p.Arg551Trp) n.761C>T c.1078C>T (p.Arg360Trp) c.1735C>T (p.Arg579Trp) c.1663C>T (p.Arg555Trp) c.1612C>T (p.Arg538Trp) c.1528C>T (p.Arg510Trp) c.1255C>T (p.Arg419Trp) c.2041C>T (p.Arg681Trp) c.2032C>T (p.Arg678Trp) c.2029C>T (p.Arg677Trp) c.1732C>T (p.Arg578Trp) c.1243C>T (p.Arg415Trp) c.1723C>T (p.Arg575Trp) c.1648C>T (p.Arg550Trp) c.1609C>T (p.Arg537Trp) c.1522C>T (p.Arg508Trp) c.1516C>T (p.Arg506Trp) c.1345C>T (p.Arg449Trp) c.1501C>T (p.Arg501Trp) c.1669C>T (p.Arg557Trp) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 18 | g.55228988G>C | CA402528904 | TCF4 | c.1738C>G (p.Arg580Gly) c.1618C>G (p.Arg540Gly) n.1418C>G c.1666C>G (p.Arg556Gly) c.*1446C>G (n.*1446C>G) c.1348C>G (p.Arg450Gly) c.*1616C>G (n.*1616C>G) c.1090C>G (p.Arg364Gly) n.1793C>G n.1432C>G c.1336C>G c.1765C>G (p.Arg589Gly) c.*1349C>G (n.*1349C>G) c.1726C>G (p.Arg576Gly) c.2044C>G (p.Arg682Gly) c.1258C>G (p.Arg420Gly) c.1336C>G (p.Arg446Gly) c.1654C>G (p.Arg552Gly) c.1600C>G (p.Arg534Gly) c.1525C>G (p.Arg509Gly) c.1246C>G (p.Arg416Gly) n.5261C>G c.1513C>G (p.Arg505Gly) c.1756C>G (p.Arg586Gly) c.1474C>G (p.Arg492Gly) c.1558C>G (p.Arg520Gly) c.1717C>G (p.Arg573Gly) c.1546C>G (p.Arg516Gly) c.1651C>G (p.Arg551Gly) n.761C>G c.1078C>G (p.Arg360Gly) c.1735C>G (p.Arg579Gly) c.1663C>G (p.Arg555Gly) c.1612C>G (p.Arg538Gly) c.1528C>G (p.Arg510Gly) c.1255C>G (p.Arg419Gly) c.2041C>G (p.Arg681Gly) c.2032C>G (p.Arg678Gly) c.2029C>G (p.Arg677Gly) c.1732C>G (p.Arg578Gly) c.1243C>G (p.Arg415Gly) c.1723C>G (p.Arg575Gly) c.1648C>G (p.Arg550Gly) c.1609C>G (p.Arg537Gly) c.1522C>G (p.Arg508Gly) c.1516C>G (p.Arg506Gly) c.1345C>G (p.Arg449Gly) c.1501C>G (p.Arg501Gly) c.1669C>G (p.Arg557Gly) | |
| 18 | g.55228988G= | CA2305004849 | TCF4 | c.1738C= (p.Arg580=) c.1618C= (p.Arg540=) n.1418C= c.1666C= (p.Arg556=) c.*1446C= (n.*1446C=) c.1348C= (p.Arg450=) c.*1616C= (n.*1616C=) c.1090C= (p.Arg364=) n.1793C= n.1432C= c.1336C= c.1765C= (p.Arg589=) c.*1349C= (n.*1349C=) c.1726C= (p.Arg576=) c.2044C= (p.Arg682=) c.1258C= (p.Arg420=) c.1336C= (p.Arg446=) c.1654C= (p.Arg552=) c.1600C= (p.Arg534=) c.1525C= (p.Arg509=) c.1246C= (p.Arg416=) n.5261C= c.1513C= (p.Arg505=) c.1756C= (p.Arg586=) c.1474C= (p.Arg492=) c.1558C= (p.Arg520=) c.1717C= (p.Arg573=) c.1546C= (p.Arg516=) c.1651C= (p.Arg551=) n.761C= c.1078C= (p.Arg360=) c.1735C= (p.Arg579=) c.1663C= (p.Arg555=) c.1612C= (p.Arg538=) c.1528C= (p.Arg510=) c.1255C= (p.Arg419=) c.2041C= (p.Arg681=) c.2032C= (p.Arg678=) c.2029C= (p.Arg677=) c.1732C= (p.Arg578=) c.1243C= (p.Arg415=) c.1723C= (p.Arg575=) c.1648C= (p.Arg550=) c.1609C= (p.Arg537=) c.1522C= (p.Arg508=) c.1516C= (p.Arg506=) c.1345C= (p.Arg449=) c.1501C= (p.Arg501=) c.1669C= (p.Arg557=) | |
| 18 | g.55228988G>T | CA504002984 | TCF4 | c.1738C>A (p.Arg580=) c.1618C>A (p.Arg540=) n.1418C>A c.1666C>A (p.Arg556=) c.*1446C>A (n.*1446C>A) c.1348C>A (p.Arg450=) c.*1616C>A (n.*1616C>A) c.1090C>A (p.Arg364=) n.1793C>A n.1432C>A c.1336C>A c.1765C>A (p.Arg589=) c.*1349C>A (n.*1349C>A) c.1726C>A (p.Arg576=) c.2044C>A (p.Arg682=) c.1258C>A (p.Arg420=) c.1336C>A (p.Arg446=) c.1654C>A (p.Arg552=) c.1600C>A (p.Arg534=) c.1525C>A (p.Arg509=) c.1246C>A (p.Arg416=) n.5261C>A c.1513C>A (p.Arg505=) c.1756C>A (p.Arg586=) c.1474C>A (p.Arg492=) c.1558C>A (p.Arg520=) c.1717C>A (p.Arg573=) c.1546C>A (p.Arg516=) c.1651C>A (p.Arg551=) n.761C>A c.1078C>A (p.Arg360=) c.1735C>A (p.Arg579=) c.1663C>A (p.Arg555=) c.1612C>A (p.Arg538=) c.1528C>A (p.Arg510=) c.1255C>A (p.Arg419=) c.2041C>A (p.Arg681=) c.2032C>A (p.Arg678=) c.2029C>A (p.Arg677=) c.1732C>A (p.Arg578=) c.1243C>A (p.Arg415=) c.1723C>A (p.Arg575=) c.1648C>A (p.Arg550=) c.1609C>A (p.Arg537=) c.1522C>A (p.Arg508=) c.1516C>A (p.Arg506=) c.1345C>A (p.Arg449=) c.1501C>A (p.Arg501=) c.1669C>A (p.Arg557=) | dbSNP gnomAD v4 |
| 18 | g.55228989C>A | CA504002987 | TCF4 | c.1737G>T (p.Leu579=) c.1617G>T (p.Leu539=) n.1417G>T c.1665G>T (p.Leu555=) c.*1445G>T (n.*1445G>T) c.1347G>T (p.Leu449=) c.*1615G>T (n.*1615G>T) c.1089G>T (p.Leu363=) n.1792G>T n.1431G>T c.1335G>T c.1764G>T (p.Leu588=) c.*1348G>T (n.*1348G>T) c.1725G>T (p.Leu575=) c.2043G>T (p.Leu681=) c.1257G>T (p.Leu419=) c.1335G>T (p.Leu445=) c.1653G>T (p.Leu551=) c.1599G>T (p.Leu533=) c.1524G>T (p.Leu508=) c.1245G>T (p.Leu415=) n.5260G>T c.1512G>T (p.Leu504=) c.1755G>T (p.Leu585=) c.1473G>T (p.Leu491=) c.1557G>T (p.Leu519=) c.1716G>T (p.Leu572=) c.1545G>T (p.Leu515=) c.1650G>T (p.Leu550=) n.760G>T c.1077G>T (p.Leu359=) c.1734G>T (p.Leu578=) c.1662G>T (p.Leu554=) c.1611G>T (p.Leu537=) c.1527G>T (p.Leu509=) c.1254G>T (p.Leu418=) c.2040G>T (p.Leu680=) c.2031G>T (p.Leu677=) c.2028G>T (p.Leu676=) c.1731G>T (p.Leu577=) c.1242G>T (p.Leu414=) c.1722G>T (p.Leu574=) c.1647G>T (p.Leu549=) c.1608G>T (p.Leu536=) c.1521G>T (p.Leu507=) c.1515G>T (p.Leu505=) c.1344G>T (p.Leu448=) c.1500G>T (p.Leu500=) c.1668G>T (p.Leu556=) | |
| 18 | g.55228989C= | CA2305004850 | TCF4 | c.1737G= (p.Leu579=) c.1617G= (p.Leu539=) n.1417G= c.1665G= (p.Leu555=) c.*1445G= (n.*1445G=) c.1347G= (p.Leu449=) c.*1615G= (n.*1615G=) c.1089G= (p.Leu363=) n.1792G= n.1431G= c.1335G= c.1764G= (p.Leu588=) c.*1348G= (n.*1348G=) c.1725G= (p.Leu575=) c.2043G= (p.Leu681=) c.1257G= (p.Leu419=) c.1335G= (p.Leu445=) c.1653G= (p.Leu551=) c.1599G= (p.Leu533=) c.1524G= (p.Leu508=) c.1245G= (p.Leu415=) n.5260G= c.1512G= (p.Leu504=) c.1755G= (p.Leu585=) c.1473G= (p.Leu491=) c.1557G= (p.Leu519=) c.1716G= (p.Leu572=) c.1545G= (p.Leu515=) c.1650G= (p.Leu550=) n.760G= c.1077G= (p.Leu359=) c.1734G= (p.Leu578=) c.1662G= (p.Leu554=) c.1611G= (p.Leu537=) c.1527G= (p.Leu509=) c.1254G= (p.Leu418=) c.2040G= (p.Leu680=) c.2031G= (p.Leu677=) c.2028G= (p.Leu676=) c.1731G= (p.Leu577=) c.1242G= (p.Leu414=) c.1722G= (p.Leu574=) c.1647G= (p.Leu549=) c.1608G= (p.Leu536=) c.1521G= (p.Leu507=) c.1515G= (p.Leu505=) c.1344G= (p.Leu448=) c.1500G= (p.Leu500=) c.1668G= (p.Leu556=) | |
| 18 | g.55228989C>G | CA504002989 | TCF4 | c.1737G>C (p.Leu579=) c.1617G>C (p.Leu539=) n.1417G>C c.1665G>C (p.Leu555=) c.*1445G>C (n.*1445G>C) c.1347G>C (p.Leu449=) c.*1615G>C (n.*1615G>C) c.1089G>C (p.Leu363=) n.1792G>C n.1431G>C c.1335G>C c.1764G>C (p.Leu588=) c.*1348G>C (n.*1348G>C) c.1725G>C (p.Leu575=) c.2043G>C (p.Leu681=) c.1257G>C (p.Leu419=) c.1335G>C (p.Leu445=) c.1653G>C (p.Leu551=) c.1599G>C (p.Leu533=) c.1524G>C (p.Leu508=) c.1245G>C (p.Leu415=) n.5260G>C c.1512G>C (p.Leu504=) c.1755G>C (p.Leu585=) c.1473G>C (p.Leu491=) c.1557G>C (p.Leu519=) c.1716G>C (p.Leu572=) c.1545G>C (p.Leu515=) c.1650G>C (p.Leu550=) n.760G>C c.1077G>C (p.Leu359=) c.1734G>C (p.Leu578=) c.1662G>C (p.Leu554=) c.1611G>C (p.Leu537=) c.1527G>C (p.Leu509=) c.1254G>C (p.Leu418=) c.2040G>C (p.Leu680=) c.2031G>C (p.Leu677=) c.2028G>C (p.Leu676=) c.1731G>C (p.Leu577=) c.1242G>C (p.Leu414=) c.1722G>C (p.Leu574=) c.1647G>C (p.Leu549=) c.1608G>C (p.Leu536=) c.1521G>C (p.Leu507=) c.1515G>C (p.Leu505=) c.1344G>C (p.Leu448=) c.1500G>C (p.Leu500=) c.1668G>C (p.Leu556=) | |
| 18 | g.55228989C>T | CA504002991 | TCF4 | c.1737G>A (p.Leu579=) c.1617G>A (p.Leu539=) n.1417G>A c.1665G>A (p.Leu555=) c.*1445G>A (n.*1445G>A) c.1347G>A (p.Leu449=) c.*1615G>A (n.*1615G>A) c.1089G>A (p.Leu363=) n.1792G>A n.1431G>A c.1335G>A c.1764G>A (p.Leu588=) c.*1348G>A (n.*1348G>A) c.1725G>A (p.Leu575=) c.2043G>A (p.Leu681=) c.1257G>A (p.Leu419=) c.1335G>A (p.Leu445=) c.1653G>A (p.Leu551=) c.1599G>A (p.Leu533=) c.1524G>A (p.Leu508=) c.1245G>A (p.Leu415=) n.5260G>A c.1512G>A (p.Leu504=) c.1755G>A (p.Leu585=) c.1473G>A (p.Leu491=) c.1557G>A (p.Leu519=) c.1716G>A (p.Leu572=) c.1545G>A (p.Leu515=) c.1650G>A (p.Leu550=) n.760G>A c.1077G>A (p.Leu359=) c.1734G>A (p.Leu578=) c.1662G>A (p.Leu554=) c.1611G>A (p.Leu537=) c.1527G>A (p.Leu509=) c.1254G>A (p.Leu418=) c.2040G>A (p.Leu680=) c.2031G>A (p.Leu677=) c.2028G>A (p.Leu676=) c.1731G>A (p.Leu577=) c.1242G>A (p.Leu414=) c.1722G>A (p.Leu574=) c.1647G>A (p.Leu549=) c.1608G>A (p.Leu536=) c.1521G>A (p.Leu507=) c.1515G>A (p.Leu505=) c.1344G>A (p.Leu448=) c.1500G>A (p.Leu500=) c.1668G>A (p.Leu556=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.55228990A>C | CA402528905 | TCF4 | c.1736T>G (p.Leu579Arg) c.1616T>G (p.Leu539Arg) n.1416T>G c.1664T>G (p.Leu555Arg) c.*1444T>G (n.*1444T>G) c.1346T>G (p.Leu449Arg) c.*1614T>G (n.*1614T>G) c.1088T>G (p.Leu363Arg) n.1791T>G n.1430T>G c.1334T>G c.1763T>G (p.Leu588Arg) c.*1347T>G (n.*1347T>G) c.1724T>G (p.Leu575Arg) c.2042T>G (p.Leu681Arg) c.1256T>G (p.Leu419Arg) c.1334T>G (p.Leu445Arg) c.1652T>G (p.Leu551Arg) c.1598T>G (p.Leu533Arg) c.1523T>G (p.Leu508Arg) c.1244T>G (p.Leu415Arg) n.5259T>G c.1511T>G (p.Leu504Arg) c.1754T>G (p.Leu585Arg) c.1472T>G (p.Leu491Arg) c.1556T>G (p.Leu519Arg) c.1715T>G (p.Leu572Arg) c.1544T>G (p.Leu515Arg) c.1649T>G (p.Leu550Arg) n.759T>G c.1076T>G (p.Leu359Arg) c.1733T>G (p.Leu578Arg) c.1661T>G (p.Leu554Arg) c.1610T>G (p.Leu537Arg) c.1526T>G (p.Leu509Arg) c.1253T>G (p.Leu418Arg) c.2039T>G (p.Leu680Arg) c.2030T>G (p.Leu677Arg) c.2027T>G (p.Leu676Arg) c.1730T>G (p.Leu577Arg) c.1241T>G (p.Leu414Arg) c.1721T>G (p.Leu574Arg) c.1646T>G (p.Leu549Arg) c.1607T>G (p.Leu536Arg) c.1520T>G (p.Leu507Arg) c.1514T>G (p.Leu505Arg) c.1343T>G (p.Leu448Arg) c.1499T>G (p.Leu500Arg) c.1667T>G (p.Leu556Arg) | |
| 18 | g.55228990A>G | CA402528906 | TCF4 | c.1736T>C (p.Leu579Pro) c.1616T>C (p.Leu539Pro) n.1416T>C c.1664T>C (p.Leu555Pro) c.*1444T>C (n.*1444T>C) c.1346T>C (p.Leu449Pro) c.*1614T>C (n.*1614T>C) c.1088T>C (p.Leu363Pro) n.1791T>C n.1430T>C c.1334T>C c.1763T>C (p.Leu588Pro) c.*1347T>C (n.*1347T>C) c.1724T>C (p.Leu575Pro) c.2042T>C (p.Leu681Pro) c.1256T>C (p.Leu419Pro) c.1334T>C (p.Leu445Pro) c.1652T>C (p.Leu551Pro) c.1598T>C (p.Leu533Pro) c.1523T>C (p.Leu508Pro) c.1244T>C (p.Leu415Pro) n.5259T>C c.1511T>C (p.Leu504Pro) c.1754T>C (p.Leu585Pro) c.1472T>C (p.Leu491Pro) c.1556T>C (p.Leu519Pro) c.1715T>C (p.Leu572Pro) c.1544T>C (p.Leu515Pro) c.1649T>C (p.Leu550Pro) n.759T>C c.1076T>C (p.Leu359Pro) c.1733T>C (p.Leu578Pro) c.1661T>C (p.Leu554Pro) c.1610T>C (p.Leu537Pro) c.1526T>C (p.Leu509Pro) c.1253T>C (p.Leu418Pro) c.2039T>C (p.Leu680Pro) c.2030T>C (p.Leu677Pro) c.2027T>C (p.Leu676Pro) c.1730T>C (p.Leu577Pro) c.1241T>C (p.Leu414Pro) c.1721T>C (p.Leu574Pro) c.1646T>C (p.Leu549Pro) c.1607T>C (p.Leu536Pro) c.1520T>C (p.Leu507Pro) c.1514T>C (p.Leu505Pro) c.1343T>C (p.Leu448Pro) c.1499T>C (p.Leu500Pro) c.1667T>C (p.Leu556Pro) | ClinVar |
| 18 | g.55228990A>T | CA402528907 | TCF4 | c.1736T>A (p.Leu579Gln) c.1616T>A (p.Leu539Gln) n.1416T>A c.1664T>A (p.Leu555Gln) c.*1444T>A (n.*1444T>A) c.1346T>A (p.Leu449Gln) c.*1614T>A (n.*1614T>A) c.1088T>A (p.Leu363Gln) n.1791T>A n.1430T>A c.1334T>A c.1763T>A (p.Leu588Gln) c.*1347T>A (n.*1347T>A) c.1724T>A (p.Leu575Gln) c.2042T>A (p.Leu681Gln) c.1256T>A (p.Leu419Gln) c.1334T>A (p.Leu445Gln) c.1652T>A (p.Leu551Gln) c.1598T>A (p.Leu533Gln) c.1523T>A (p.Leu508Gln) c.1244T>A (p.Leu415Gln) n.5259T>A c.1511T>A (p.Leu504Gln) c.1754T>A (p.Leu585Gln) c.1472T>A (p.Leu491Gln) c.1556T>A (p.Leu519Gln) c.1715T>A (p.Leu572Gln) c.1544T>A (p.Leu515Gln) c.1649T>A (p.Leu550Gln) n.759T>A c.1076T>A (p.Leu359Gln) c.1733T>A (p.Leu578Gln) c.1661T>A (p.Leu554Gln) c.1610T>A (p.Leu537Gln) c.1526T>A (p.Leu509Gln) c.1253T>A (p.Leu418Gln) c.2039T>A (p.Leu680Gln) c.2030T>A (p.Leu677Gln) c.2027T>A (p.Leu676Gln) c.1730T>A (p.Leu577Gln) c.1241T>A (p.Leu414Gln) c.1721T>A (p.Leu574Gln) c.1646T>A (p.Leu549Gln) c.1607T>A (p.Leu536Gln) c.1520T>A (p.Leu507Gln) c.1514T>A (p.Leu505Gln) c.1343T>A (p.Leu448Gln) c.1499T>A (p.Leu500Gln) c.1667T>A (p.Leu556Gln) | |
| 18 | g.55228991G>A | CA504002998 | TCF4 | c.1735C>T (p.Leu579=) c.1615C>T (p.Leu539=) n.1415C>T c.1663C>T (p.Leu555=) c.*1443C>T (n.*1443C>T) c.1345C>T (p.Leu449=) c.*1613C>T (n.*1613C>T) c.1087C>T (p.Leu363=) n.1790C>T n.1429C>T c.1333C>T c.1762C>T (p.Leu588=) c.*1346C>T (n.*1346C>T) c.1723C>T (p.Leu575=) c.2041C>T (p.Leu681=) c.1255C>T (p.Leu419=) c.1333C>T (p.Leu445=) c.1651C>T (p.Leu551=) c.1597C>T (p.Leu533=) c.1522C>T (p.Leu508=) c.1243C>T (p.Leu415=) n.5258C>T c.1510C>T (p.Leu504=) c.1753C>T (p.Leu585=) c.1471C>T (p.Leu491=) c.1555C>T (p.Leu519=) c.1714C>T (p.Leu572=) c.1543C>T (p.Leu515=) c.1648C>T (p.Leu550=) n.758C>T c.1075C>T (p.Leu359=) c.1732C>T (p.Leu578=) c.1660C>T (p.Leu554=) c.1609C>T (p.Leu537=) c.1525C>T (p.Leu509=) c.1252C>T (p.Leu418=) c.2038C>T (p.Leu680=) c.2029C>T (p.Leu677=) c.2026C>T (p.Leu676=) c.1729C>T (p.Leu577=) c.1240C>T (p.Leu414=) c.1720C>T (p.Leu574=) c.1645C>T (p.Leu549=) c.1606C>T (p.Leu536=) c.1519C>T (p.Leu507=) c.1513C>T (p.Leu505=) c.1342C>T (p.Leu448=) c.1498C>T (p.Leu500=) c.1666C>T (p.Leu556=) | |
| 18 | g.55228991G>C | CA402528908 | TCF4 | c.1735C>G (p.Leu579Val) c.1615C>G (p.Leu539Val) n.1415C>G c.1663C>G (p.Leu555Val) c.*1443C>G (n.*1443C>G) c.1345C>G (p.Leu449Val) c.*1613C>G (n.*1613C>G) c.1087C>G (p.Leu363Val) n.1790C>G n.1429C>G c.1333C>G c.1762C>G (p.Leu588Val) c.*1346C>G (n.*1346C>G) c.1723C>G (p.Leu575Val) c.2041C>G (p.Leu681Val) c.1255C>G (p.Leu419Val) c.1333C>G (p.Leu445Val) c.1651C>G (p.Leu551Val) c.1597C>G (p.Leu533Val) c.1522C>G (p.Leu508Val) c.1243C>G (p.Leu415Val) n.5258C>G c.1510C>G (p.Leu504Val) c.1753C>G (p.Leu585Val) c.1471C>G (p.Leu491Val) c.1555C>G (p.Leu519Val) c.1714C>G (p.Leu572Val) c.1543C>G (p.Leu515Val) c.1648C>G (p.Leu550Val) n.758C>G c.1075C>G (p.Leu359Val) c.1732C>G (p.Leu578Val) c.1660C>G (p.Leu554Val) c.1609C>G (p.Leu537Val) c.1525C>G (p.Leu509Val) c.1252C>G (p.Leu418Val) c.2038C>G (p.Leu680Val) c.2029C>G (p.Leu677Val) c.2026C>G (p.Leu676Val) c.1729C>G (p.Leu577Val) c.1240C>G (p.Leu414Val) c.1720C>G (p.Leu574Val) c.1645C>G (p.Leu549Val) c.1606C>G (p.Leu536Val) c.1519C>G (p.Leu507Val) c.1513C>G (p.Leu505Val) c.1342C>G (p.Leu448Val) c.1498C>G (p.Leu500Val) c.1666C>G (p.Leu556Val) | |
| 18 | g.55228991G>T | CA402528909 | TCF4 | c.1735C>A (p.Leu579Met) c.1615C>A (p.Leu539Met) n.1415C>A c.1663C>A (p.Leu555Met) c.*1443C>A (n.*1443C>A) c.1345C>A (p.Leu449Met) c.*1613C>A (n.*1613C>A) c.1087C>A (p.Leu363Met) n.1790C>A n.1429C>A c.1333C>A c.1762C>A (p.Leu588Met) c.*1346C>A (n.*1346C>A) c.1723C>A (p.Leu575Met) c.2041C>A (p.Leu681Met) c.1255C>A (p.Leu419Met) c.1333C>A (p.Leu445Met) c.1651C>A (p.Leu551Met) c.1597C>A (p.Leu533Met) c.1522C>A (p.Leu508Met) c.1243C>A (p.Leu415Met) n.5258C>A c.1510C>A (p.Leu504Met) c.1753C>A (p.Leu585Met) c.1471C>A (p.Leu491Met) c.1555C>A (p.Leu519Met) c.1714C>A (p.Leu572Met) c.1543C>A (p.Leu515Met) c.1648C>A (p.Leu550Met) n.758C>A c.1075C>A (p.Leu359Met) c.1732C>A (p.Leu578Met) c.1660C>A (p.Leu554Met) c.1609C>A (p.Leu537Met) c.1525C>A (p.Leu509Met) c.1252C>A (p.Leu418Met) c.2038C>A (p.Leu680Met) c.2029C>A (p.Leu677Met) c.2026C>A (p.Leu676Met) c.1729C>A (p.Leu577Met) c.1240C>A (p.Leu414Met) c.1720C>A (p.Leu574Met) c.1645C>A (p.Leu549Met) c.1606C>A (p.Leu536Met) c.1519C>A (p.Leu507Met) c.1513C>A (p.Leu505Met) c.1342C>A (p.Leu448Met) c.1498C>A (p.Leu500Met) c.1666C>A (p.Leu556Met) | |
| 18 | g.55228992A>C | CA504003003 | TCF4 | c.1734T>G (p.Arg578=) c.1614T>G (p.Arg538=) n.1414T>G c.1662T>G (p.Arg554=) c.*1442T>G (n.*1442T>G) c.1344T>G (p.Arg448=) c.*1612T>G (n.*1612T>G) c.1086T>G (p.Arg362=) n.1789T>G n.1428T>G c.1332T>G c.1761T>G (p.Arg587=) c.*1345T>G (n.*1345T>G) c.1722T>G (p.Arg574=) c.2040T>G (p.Arg680=) c.1254T>G (p.Arg418=) c.1332T>G (p.Arg444=) c.1650T>G (p.Arg550=) c.1596T>G (p.Arg532=) c.1521T>G (p.Arg507=) c.1242T>G (p.Arg414=) n.5257T>G c.1509T>G (p.Arg503=) c.1752T>G (p.Arg584=) c.1470T>G (p.Arg490=) c.1554T>G (p.Arg518=) c.1713T>G (p.Arg571=) c.1542T>G (p.Arg514=) c.1647T>G (p.Arg549=) n.757T>G c.1074T>G (p.Arg358=) c.1731T>G (p.Arg577=) c.1659T>G (p.Arg553=) c.1608T>G (p.Arg536=) c.1524T>G (p.Arg508=) c.1251T>G (p.Arg417=) c.2037T>G (p.Arg679=) c.2028T>G (p.Arg676=) c.2025T>G (p.Arg675=) c.1728T>G (p.Arg576=) c.1239T>G (p.Arg413=) c.1719T>G (p.Arg573=) c.1644T>G (p.Arg548=) c.1605T>G (p.Arg535=) c.1518T>G (p.Arg506=) c.1512T>G (p.Arg504=) c.1341T>G (p.Arg447=) c.1497T>G (p.Arg499=) c.1665T>G (p.Arg555=) | |
| 18 | g.55228992A>G | CA504003005 | TCF4 | c.1734T>C (p.Arg578=) c.1614T>C (p.Arg538=) n.1414T>C c.1662T>C (p.Arg554=) c.*1442T>C (n.*1442T>C) c.1344T>C (p.Arg448=) c.*1612T>C (n.*1612T>C) c.1086T>C (p.Arg362=) n.1789T>C n.1428T>C c.1332T>C c.1761T>C (p.Arg587=) c.*1345T>C (n.*1345T>C) c.1722T>C (p.Arg574=) c.2040T>C (p.Arg680=) c.1254T>C (p.Arg418=) c.1332T>C (p.Arg444=) c.1650T>C (p.Arg550=) c.1596T>C (p.Arg532=) c.1521T>C (p.Arg507=) c.1242T>C (p.Arg414=) n.5257T>C c.1509T>C (p.Arg503=) c.1752T>C (p.Arg584=) c.1470T>C (p.Arg490=) c.1554T>C (p.Arg518=) c.1713T>C (p.Arg571=) c.1542T>C (p.Arg514=) c.1647T>C (p.Arg549=) n.757T>C c.1074T>C (p.Arg358=) c.1731T>C (p.Arg577=) c.1659T>C (p.Arg553=) c.1608T>C (p.Arg536=) c.1524T>C (p.Arg508=) c.1251T>C (p.Arg417=) c.2037T>C (p.Arg679=) c.2028T>C (p.Arg676=) c.2025T>C (p.Arg675=) c.1728T>C (p.Arg576=) c.1239T>C (p.Arg413=) c.1719T>C (p.Arg573=) c.1644T>C (p.Arg548=) c.1605T>C (p.Arg535=) c.1518T>C (p.Arg506=) c.1512T>C (p.Arg504=) c.1341T>C (p.Arg447=) c.1497T>C (p.Arg499=) c.1665T>C (p.Arg555=) | ClinVar gnomAD v3 gnomAD v4 |
| 18 | g.55228992A>T | CA504003007 | TCF4 | c.1734T>A (p.Arg578=) c.1614T>A (p.Arg538=) n.1414T>A c.1662T>A (p.Arg554=) c.*1442T>A (n.*1442T>A) c.1344T>A (p.Arg448=) c.*1612T>A (n.*1612T>A) c.1086T>A (p.Arg362=) n.1789T>A n.1428T>A c.1332T>A c.1761T>A (p.Arg587=) c.*1345T>A (n.*1345T>A) c.1722T>A (p.Arg574=) c.2040T>A (p.Arg680=) c.1254T>A (p.Arg418=) c.1332T>A (p.Arg444=) c.1650T>A (p.Arg550=) c.1596T>A (p.Arg532=) c.1521T>A (p.Arg507=) c.1242T>A (p.Arg414=) n.5257T>A c.1509T>A (p.Arg503=) c.1752T>A (p.Arg584=) c.1470T>A (p.Arg490=) c.1554T>A (p.Arg518=) c.1713T>A (p.Arg571=) c.1542T>A (p.Arg514=) c.1647T>A (p.Arg549=) n.757T>A c.1074T>A (p.Arg358=) c.1731T>A (p.Arg577=) c.1659T>A (p.Arg553=) c.1608T>A (p.Arg536=) c.1524T>A (p.Arg508=) c.1251T>A (p.Arg417=) c.2037T>A (p.Arg679=) c.2028T>A (p.Arg676=) c.2025T>A (p.Arg675=) c.1728T>A (p.Arg576=) c.1239T>A (p.Arg413=) c.1719T>A (p.Arg573=) c.1644T>A (p.Arg548=) c.1605T>A (p.Arg535=) c.1518T>A (p.Arg506=) c.1512T>A (p.Arg504=) c.1341T>A (p.Arg447=) c.1497T>A (p.Arg499=) c.1665T>A (p.Arg555=) | |
| 18 | g.55228993C>A | CA402528910 | TCF4 | c.1733G>T (p.Arg578Leu) c.1613G>T (p.Arg538Leu) n.1413G>T c.1661G>T (p.Arg554Leu) c.*1441G>T (n.*1441G>T) c.1343G>T (p.Arg448Leu) c.*1611G>T (n.*1611G>T) c.1085G>T (p.Arg362Leu) n.1788G>T n.1427G>T c.1331G>T c.1760G>T (p.Arg587Leu) c.*1344G>T (n.*1344G>T) c.1721G>T (p.Arg574Leu) c.2039G>T (p.Arg680Leu) c.1253G>T (p.Arg418Leu) c.1331G>T (p.Arg444Leu) c.1649G>T (p.Arg550Leu) c.1595G>T (p.Arg532Leu) c.1520G>T (p.Arg507Leu) c.1241G>T (p.Arg414Leu) n.5256G>T c.1508G>T (p.Arg503Leu) c.1751G>T (p.Arg584Leu) c.1469G>T (p.Arg490Leu) c.1553G>T (p.Arg518Leu) c.1712G>T (p.Arg571Leu) c.1541G>T (p.Arg514Leu) c.1646G>T (p.Arg549Leu) n.756G>T c.1073G>T (p.Arg358Leu) c.1730G>T (p.Arg577Leu) c.1658G>T (p.Arg553Leu) c.1607G>T (p.Arg536Leu) c.1523G>T (p.Arg508Leu) c.1250G>T (p.Arg417Leu) c.2036G>T (p.Arg679Leu) c.2027G>T (p.Arg676Leu) c.2024G>T (p.Arg675Leu) c.1727G>T (p.Arg576Leu) c.1238G>T (p.Arg413Leu) c.1718G>T (p.Arg573Leu) c.1643G>T (p.Arg548Leu) c.1604G>T (p.Arg535Leu) c.1517G>T (p.Arg506Leu) c.1511G>T (p.Arg504Leu) c.1340G>T (p.Arg447Leu) c.1496G>T (p.Arg499Leu) c.1664G>T (p.Arg555Leu) | |
| 18 | g.55228993C= | CA2305004851 | TCF4 | c.1733G= (p.Arg578=) c.1613G= (p.Arg538=) n.1413G= c.1661G= (p.Arg554=) c.*1441G= (n.*1441G=) c.1343G= (p.Arg448=) c.*1611G= (n.*1611G=) c.1085G= (p.Arg362=) n.1788G= n.1427G= c.1331G= c.1760G= (p.Arg587=) c.*1344G= (n.*1344G=) c.1721G= (p.Arg574=) c.2039G= (p.Arg680=) c.1253G= (p.Arg418=) c.1331G= (p.Arg444=) c.1649G= (p.Arg550=) c.1595G= (p.Arg532=) c.1520G= (p.Arg507=) c.1241G= (p.Arg414=) n.5256G= c.1508G= (p.Arg503=) c.1751G= (p.Arg584=) c.1469G= (p.Arg490=) c.1553G= (p.Arg518=) c.1712G= (p.Arg571=) c.1541G= (p.Arg514=) c.1646G= (p.Arg549=) n.756G= c.1073G= (p.Arg358=) c.1730G= (p.Arg577=) c.1658G= (p.Arg553=) c.1607G= (p.Arg536=) c.1523G= (p.Arg508=) c.1250G= (p.Arg417=) c.2036G= (p.Arg679=) c.2027G= (p.Arg676=) c.2024G= (p.Arg675=) c.1727G= (p.Arg576=) c.1238G= (p.Arg413=) c.1718G= (p.Arg573=) c.1643G= (p.Arg548=) c.1604G= (p.Arg535=) c.1517G= (p.Arg506=) c.1511G= (p.Arg504=) c.1340G= (p.Arg447=) c.1496G= (p.Arg499=) c.1664G= (p.Arg555=) | |
| 18 | g.55228993C>G | CA254167 | TCF4 | c.1733G>C (p.Arg578Pro) c.1613G>C (p.Arg538Pro) n.1413G>C c.1661G>C (p.Arg554Pro) c.*1441G>C (n.*1441G>C) c.1343G>C (p.Arg448Pro) c.*1611G>C (n.*1611G>C) c.1085G>C (p.Arg362Pro) n.1788G>C n.1427G>C c.1331G>C c.1760G>C (p.Arg587Pro) c.*1344G>C (n.*1344G>C) c.1721G>C (p.Arg574Pro) c.2039G>C (p.Arg680Pro) c.1253G>C (p.Arg418Pro) c.1331G>C (p.Arg444Pro) c.1649G>C (p.Arg550Pro) c.1595G>C (p.Arg532Pro) c.1520G>C (p.Arg507Pro) c.1241G>C (p.Arg414Pro) n.5256G>C c.1508G>C (p.Arg503Pro) c.1751G>C (p.Arg584Pro) c.1469G>C (p.Arg490Pro) c.1553G>C (p.Arg518Pro) c.1712G>C (p.Arg571Pro) c.1541G>C (p.Arg514Pro) c.1646G>C (p.Arg549Pro) n.756G>C c.1073G>C (p.Arg358Pro) c.1730G>C (p.Arg577Pro) c.1658G>C (p.Arg553Pro) c.1607G>C (p.Arg536Pro) c.1523G>C (p.Arg508Pro) c.1250G>C (p.Arg417Pro) c.2036G>C (p.Arg679Pro) c.2027G>C (p.Arg676Pro) c.2024G>C (p.Arg675Pro) c.1727G>C (p.Arg576Pro) c.1238G>C (p.Arg413Pro) c.1718G>C (p.Arg573Pro) c.1643G>C (p.Arg548Pro) c.1604G>C (p.Arg535Pro) c.1517G>C (p.Arg506Pro) c.1511G>C (p.Arg504Pro) c.1340G>C (p.Arg447Pro) c.1496G>C (p.Arg499Pro) c.1664G>C (p.Arg555Pro) | ClinVar dbSNP |
| 18 | g.55228993C>T | CA266820 | TCF4 | c.1733G>A (p.Arg578His) c.1613G>A (p.Arg538His) n.1413G>A c.1661G>A (p.Arg554His) c.*1441G>A (n.*1441G>A) c.1343G>A (p.Arg448His) c.*1611G>A (n.*1611G>A) c.1085G>A (p.Arg362His) n.1788G>A n.1427G>A c.1331G>A c.1760G>A (p.Arg587His) c.*1344G>A (n.*1344G>A) c.1721G>A (p.Arg574His) c.2039G>A (p.Arg680His) c.1253G>A (p.Arg418His) c.1331G>A (p.Arg444His) c.1649G>A (p.Arg550His) c.1595G>A (p.Arg532His) c.1520G>A (p.Arg507His) c.1241G>A (p.Arg414His) n.5256G>A c.1508G>A (p.Arg503His) c.1751G>A (p.Arg584His) c.1469G>A (p.Arg490His) c.1553G>A (p.Arg518His) c.1712G>A (p.Arg571His) c.1541G>A (p.Arg514His) c.1646G>A (p.Arg549His) n.756G>A c.1073G>A (p.Arg358His) c.1730G>A (p.Arg577His) c.1658G>A (p.Arg553His) c.1607G>A (p.Arg536His) c.1523G>A (p.Arg508His) c.1250G>A (p.Arg417His) c.2036G>A (p.Arg679His) c.2027G>A (p.Arg676His) c.2024G>A (p.Arg675His) c.1727G>A (p.Arg576His) c.1238G>A (p.Arg413His) c.1718G>A (p.Arg573His) c.1643G>A (p.Arg548His) c.1604G>A (p.Arg535His) c.1517G>A (p.Arg506His) c.1511G>A (p.Arg504His) c.1340G>A (p.Arg447His) c.1496G>A (p.Arg499His) c.1664G>A (p.Arg555His) | ClinVar dbSNP gnomAD v4 |
| 18 | g.55228994G>A | CA402528911 | TCF4 | c.1732C>T (p.Arg578Cys) c.1612C>T (p.Arg538Cys) n.1412C>T c.1660C>T (p.Arg554Cys) c.*1440C>T (n.*1440C>T) c.1342C>T (p.Arg448Cys) c.*1610C>T (n.*1610C>T) c.1084C>T (p.Arg362Cys) n.1787C>T n.1426C>T c.1330C>T c.1759C>T (p.Arg587Cys) c.*1343C>T (n.*1343C>T) c.1720C>T (p.Arg574Cys) c.2038C>T (p.Arg680Cys) c.1252C>T (p.Arg418Cys) c.1330C>T (p.Arg444Cys) c.1648C>T (p.Arg550Cys) c.1594C>T (p.Arg532Cys) c.1519C>T (p.Arg507Cys) c.1240C>T (p.Arg414Cys) n.5255C>T c.1507C>T (p.Arg503Cys) c.1750C>T (p.Arg584Cys) c.1468C>T (p.Arg490Cys) c.1552C>T (p.Arg518Cys) c.1711C>T (p.Arg571Cys) c.1540C>T (p.Arg514Cys) c.1645C>T (p.Arg549Cys) n.755C>T c.1072C>T (p.Arg358Cys) c.1729C>T (p.Arg577Cys) c.1657C>T (p.Arg553Cys) c.1606C>T (p.Arg536Cys) c.1522C>T (p.Arg508Cys) c.1249C>T (p.Arg417Cys) c.2035C>T (p.Arg679Cys) c.2026C>T (p.Arg676Cys) c.2023C>T (p.Arg675Cys) c.1726C>T (p.Arg576Cys) c.1237C>T (p.Arg413Cys) c.1717C>T (p.Arg573Cys) c.1642C>T (p.Arg548Cys) c.1603C>T (p.Arg535Cys) c.1516C>T (p.Arg506Cys) c.1510C>T (p.Arg504Cys) c.1339C>T (p.Arg447Cys) c.1495C>T (p.Arg499Cys) c.1663C>T (p.Arg555Cys) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 18 | g.55228994G>C | CA402528912 | TCF4 | c.1732C>G (p.Arg578Gly) c.1612C>G (p.Arg538Gly) n.1412C>G c.1660C>G (p.Arg554Gly) c.*1440C>G (n.*1440C>G) c.1342C>G (p.Arg448Gly) c.*1610C>G (n.*1610C>G) c.1084C>G (p.Arg362Gly) n.1787C>G n.1426C>G c.1330C>G c.1759C>G (p.Arg587Gly) c.*1343C>G (n.*1343C>G) c.1720C>G (p.Arg574Gly) c.2038C>G (p.Arg680Gly) c.1252C>G (p.Arg418Gly) c.1330C>G (p.Arg444Gly) c.1648C>G (p.Arg550Gly) c.1594C>G (p.Arg532Gly) c.1519C>G (p.Arg507Gly) c.1240C>G (p.Arg414Gly) n.5255C>G c.1507C>G (p.Arg503Gly) c.1750C>G (p.Arg584Gly) c.1468C>G (p.Arg490Gly) c.1552C>G (p.Arg518Gly) c.1711C>G (p.Arg571Gly) c.1540C>G (p.Arg514Gly) c.1645C>G (p.Arg549Gly) n.755C>G c.1072C>G (p.Arg358Gly) c.1729C>G (p.Arg577Gly) c.1657C>G (p.Arg553Gly) c.1606C>G (p.Arg536Gly) c.1522C>G (p.Arg508Gly) c.1249C>G (p.Arg417Gly) c.2035C>G (p.Arg679Gly) c.2026C>G (p.Arg676Gly) c.2023C>G (p.Arg675Gly) c.1726C>G (p.Arg576Gly) c.1237C>G (p.Arg413Gly) c.1717C>G (p.Arg573Gly) c.1642C>G (p.Arg548Gly) c.1603C>G (p.Arg535Gly) c.1516C>G (p.Arg506Gly) c.1510C>G (p.Arg504Gly) c.1339C>G (p.Arg447Gly) c.1495C>G (p.Arg499Gly) c.1663C>G (p.Arg555Gly) | |
| 18 | g.55228994G>T | CA402528913 | TCF4 | c.1732C>A (p.Arg578Ser) c.1612C>A (p.Arg538Ser) n.1412C>A c.1660C>A (p.Arg554Ser) c.*1440C>A (n.*1440C>A) c.1342C>A (p.Arg448Ser) c.*1610C>A (n.*1610C>A) c.1084C>A (p.Arg362Ser) n.1787C>A n.1426C>A c.1330C>A c.1759C>A (p.Arg587Ser) c.*1343C>A (n.*1343C>A) c.1720C>A (p.Arg574Ser) c.2038C>A (p.Arg680Ser) c.1252C>A (p.Arg418Ser) c.1330C>A (p.Arg444Ser) c.1648C>A (p.Arg550Ser) c.1594C>A (p.Arg532Ser) c.1519C>A (p.Arg507Ser) c.1240C>A (p.Arg414Ser) n.5255C>A c.1507C>A (p.Arg503Ser) c.1750C>A (p.Arg584Ser) c.1468C>A (p.Arg490Ser) c.1552C>A (p.Arg518Ser) c.1711C>A (p.Arg571Ser) c.1540C>A (p.Arg514Ser) c.1645C>A (p.Arg549Ser) n.755C>A c.1072C>A (p.Arg358Ser) c.1729C>A (p.Arg577Ser) c.1657C>A (p.Arg553Ser) c.1606C>A (p.Arg536Ser) c.1522C>A (p.Arg508Ser) c.1249C>A (p.Arg417Ser) c.2035C>A (p.Arg679Ser) c.2026C>A (p.Arg676Ser) c.2023C>A (p.Arg675Ser) c.1726C>A (p.Arg576Ser) c.1237C>A (p.Arg413Ser) c.1717C>A (p.Arg573Ser) c.1642C>A (p.Arg548Ser) c.1603C>A (p.Arg535Ser) c.1516C>A (p.Arg506Ser) c.1510C>A (p.Arg504Ser) c.1339C>A (p.Arg447Ser) c.1495C>A (p.Arg499Ser) c.1663C>A (p.Arg555Ser) | |
| 18 | g.55228995C>A | CA402528914 | TCF4 | c.1731G>T (p.Glu577Asp) c.1611G>T (p.Glu537Asp) n.1411G>T c.1659G>T (p.Glu553Asp) c.*1439G>T (n.*1439G>T) c.1341G>T (p.Glu447Asp) c.*1609G>T (n.*1609G>T) c.1083G>T (p.Glu361Asp) n.1786G>T n.1425G>T c.1329G>T c.1758G>T (p.Glu586Asp) c.*1342G>T (n.*1342G>T) c.1719G>T (p.Glu573Asp) c.2037G>T (p.Glu679Asp) c.1251G>T (p.Glu417Asp) c.1329G>T (p.Glu443Asp) c.1647G>T (p.Glu549Asp) c.1593G>T (p.Glu531Asp) c.1518G>T (p.Glu506Asp) c.1239G>T (p.Glu413Asp) n.5254G>T c.1506G>T (p.Glu502Asp) c.1749G>T (p.Glu583Asp) c.1467G>T (p.Glu489Asp) c.1551G>T (p.Glu517Asp) c.1710G>T (p.Glu570Asp) c.1539G>T (p.Glu513Asp) c.1644G>T (p.Glu548Asp) n.754G>T c.1071G>T (p.Glu357Asp) c.1728G>T (p.Glu576Asp) c.1656G>T (p.Glu552Asp) c.1605G>T (p.Glu535Asp) c.1521G>T (p.Glu507Asp) c.1248G>T (p.Glu416Asp) c.2034G>T (p.Glu678Asp) c.2025G>T (p.Glu675Asp) c.2022G>T (p.Glu674Asp) c.1725G>T (p.Glu575Asp) c.1236G>T (p.Glu412Asp) c.1716G>T (p.Glu572Asp) c.1641G>T (p.Glu547Asp) c.1602G>T (p.Glu534Asp) c.1515G>T (p.Glu505Asp) c.1509G>T (p.Glu503Asp) c.1338G>T (p.Glu446Asp) c.1494G>T (p.Glu498Asp) c.1662G>T (p.Glu554Asp) | |
| 18 | g.55228995C>G | CA402528915 | TCF4 | c.1731G>C (p.Glu577Asp) c.1611G>C (p.Glu537Asp) n.1411G>C c.1659G>C (p.Glu553Asp) c.*1439G>C (n.*1439G>C) c.1341G>C (p.Glu447Asp) c.*1609G>C (n.*1609G>C) c.1083G>C (p.Glu361Asp) n.1786G>C n.1425G>C c.1329G>C c.1758G>C (p.Glu586Asp) c.*1342G>C (n.*1342G>C) c.1719G>C (p.Glu573Asp) c.2037G>C (p.Glu679Asp) c.1251G>C (p.Glu417Asp) c.1329G>C (p.Glu443Asp) c.1647G>C (p.Glu549Asp) c.1593G>C (p.Glu531Asp) c.1518G>C (p.Glu506Asp) c.1239G>C (p.Glu413Asp) n.5254G>C c.1506G>C (p.Glu502Asp) c.1749G>C (p.Glu583Asp) c.1467G>C (p.Glu489Asp) c.1551G>C (p.Glu517Asp) c.1710G>C (p.Glu570Asp) c.1539G>C (p.Glu513Asp) c.1644G>C (p.Glu548Asp) n.754G>C c.1071G>C (p.Glu357Asp) c.1728G>C (p.Glu576Asp) c.1656G>C (p.Glu552Asp) c.1605G>C (p.Glu535Asp) c.1521G>C (p.Glu507Asp) c.1248G>C (p.Glu416Asp) c.2034G>C (p.Glu678Asp) c.2025G>C (p.Glu675Asp) c.2022G>C (p.Glu674Asp) c.1725G>C (p.Glu575Asp) c.1236G>C (p.Glu412Asp) c.1716G>C (p.Glu572Asp) c.1641G>C (p.Glu547Asp) c.1602G>C (p.Glu534Asp) c.1515G>C (p.Glu505Asp) c.1509G>C (p.Glu503Asp) c.1338G>C (p.Glu446Asp) c.1494G>C (p.Glu498Asp) c.1662G>C (p.Glu554Asp) | |
| 18 | g.55228995C>T | CA504003020 | TCF4 | c.1731G>A (p.Glu577=) c.1611G>A (p.Glu537=) n.1411G>A c.1659G>A (p.Glu553=) c.*1439G>A (n.*1439G>A) c.1341G>A (p.Glu447=) c.*1609G>A (n.*1609G>A) c.1083G>A (p.Glu361=) n.1786G>A n.1425G>A c.1329G>A c.1758G>A (p.Glu586=) c.*1342G>A (n.*1342G>A) c.1719G>A (p.Glu573=) c.2037G>A (p.Glu679=) c.1251G>A (p.Glu417=) c.1329G>A (p.Glu443=) c.1647G>A (p.Glu549=) c.1593G>A (p.Glu531=) c.1518G>A (p.Glu506=) c.1239G>A (p.Glu413=) n.5254G>A c.1506G>A (p.Glu502=) c.1749G>A (p.Glu583=) c.1467G>A (p.Glu489=) c.1551G>A (p.Glu517=) c.1710G>A (p.Glu570=) c.1539G>A (p.Glu513=) c.1644G>A (p.Glu548=) n.754G>A c.1071G>A (p.Glu357=) c.1728G>A (p.Glu576=) c.1656G>A (p.Glu552=) c.1605G>A (p.Glu535=) c.1521G>A (p.Glu507=) c.1248G>A (p.Glu416=) c.2034G>A (p.Glu678=) c.2025G>A (p.Glu675=) c.2022G>A (p.Glu674=) c.1725G>A (p.Glu575=) c.1236G>A (p.Glu412=) c.1716G>A (p.Glu572=) c.1641G>A (p.Glu547=) c.1602G>A (p.Glu534=) c.1515G>A (p.Glu505=) c.1509G>A (p.Glu503=) c.1338G>A (p.Glu446=) c.1494G>A (p.Glu498=) c.1662G>A (p.Glu554=) | ClinVar dbSNP |
| 18 | g.55228996T>A | CA402528916 | TCF4 | c.1730A>T (p.Glu577Val) c.1610A>T (p.Glu537Val) n.1410A>T c.1658A>T (p.Glu553Val) c.*1438A>T (n.*1438A>T) c.1340A>T (p.Glu447Val) c.*1608A>T (n.*1608A>T) c.1082A>T (p.Glu361Val) n.1785A>T n.1424A>T c.1328A>T c.1757A>T (p.Glu586Val) c.*1341A>T (n.*1341A>T) c.1718A>T (p.Glu573Val) c.2036A>T (p.Glu679Val) c.1250A>T (p.Glu417Val) c.1328A>T (p.Glu443Val) c.1646A>T (p.Glu549Val) c.1592A>T (p.Glu531Val) c.1517A>T (p.Glu506Val) c.1238A>T (p.Glu413Val) n.5253A>T c.1505A>T (p.Glu502Val) c.1748A>T (p.Glu583Val) c.1466A>T (p.Glu489Val) c.1550A>T (p.Glu517Val) c.1709A>T (p.Glu570Val) c.1538A>T (p.Glu513Val) c.1643A>T (p.Glu548Val) n.753A>T c.1070A>T (p.Glu357Val) c.1727A>T (p.Glu576Val) c.1655A>T (p.Glu552Val) c.1604A>T (p.Glu535Val) c.1520A>T (p.Glu507Val) c.1247A>T (p.Glu416Val) c.2033A>T (p.Glu678Val) c.2024A>T (p.Glu675Val) c.2021A>T (p.Glu674Val) c.1724A>T (p.Glu575Val) c.1235A>T (p.Glu412Val) c.1715A>T (p.Glu572Val) c.1640A>T (p.Glu547Val) c.1601A>T (p.Glu534Val) c.1514A>T (p.Glu505Val) c.1508A>T (p.Glu503Val) c.1337A>T (p.Glu446Val) c.1493A>T (p.Glu498Val) c.1661A>T (p.Glu554Val) | |
| 18 | g.55228996T>C | CA402528917 | TCF4 | c.1730A>G (p.Glu577Gly) c.1610A>G (p.Glu537Gly) n.1410A>G c.1658A>G (p.Glu553Gly) c.*1438A>G (n.*1438A>G) c.1340A>G (p.Glu447Gly) c.*1608A>G (n.*1608A>G) c.1082A>G (p.Glu361Gly) n.1785A>G n.1424A>G c.1328A>G c.1757A>G (p.Glu586Gly) c.*1341A>G (n.*1341A>G) c.1718A>G (p.Glu573Gly) c.2036A>G (p.Glu679Gly) c.1250A>G (p.Glu417Gly) c.1328A>G (p.Glu443Gly) c.1646A>G (p.Glu549Gly) c.1592A>G (p.Glu531Gly) c.1517A>G (p.Glu506Gly) c.1238A>G (p.Glu413Gly) n.5253A>G c.1505A>G (p.Glu502Gly) c.1748A>G (p.Glu583Gly) c.1466A>G (p.Glu489Gly) c.1550A>G (p.Glu517Gly) c.1709A>G (p.Glu570Gly) c.1538A>G (p.Glu513Gly) c.1643A>G (p.Glu548Gly) n.753A>G c.1070A>G (p.Glu357Gly) c.1727A>G (p.Glu576Gly) c.1655A>G (p.Glu552Gly) c.1604A>G (p.Glu535Gly) c.1520A>G (p.Glu507Gly) c.1247A>G (p.Glu416Gly) c.2033A>G (p.Glu678Gly) c.2024A>G (p.Glu675Gly) c.2021A>G (p.Glu674Gly) c.1724A>G (p.Glu575Gly) c.1235A>G (p.Glu412Gly) c.1715A>G (p.Glu572Gly) c.1640A>G (p.Glu547Gly) c.1601A>G (p.Glu534Gly) c.1514A>G (p.Glu505Gly) c.1508A>G (p.Glu503Gly) c.1337A>G (p.Glu446Gly) c.1493A>G (p.Glu498Gly) c.1661A>G (p.Glu554Gly) | ClinVar |
| 18 | g.55228996T>G | CA402528918 | TCF4 | c.1730A>C (p.Glu577Ala) c.1610A>C (p.Glu537Ala) n.1410A>C c.1658A>C (p.Glu553Ala) c.*1438A>C (n.*1438A>C) c.1340A>C (p.Glu447Ala) c.*1608A>C (n.*1608A>C) c.1082A>C (p.Glu361Ala) n.1785A>C n.1424A>C c.1328A>C c.1757A>C (p.Glu586Ala) c.*1341A>C (n.*1341A>C) c.1718A>C (p.Glu573Ala) c.2036A>C (p.Glu679Ala) c.1250A>C (p.Glu417Ala) c.1328A>C (p.Glu443Ala) c.1646A>C (p.Glu549Ala) c.1592A>C (p.Glu531Ala) c.1517A>C (p.Glu506Ala) c.1238A>C (p.Glu413Ala) n.5253A>C c.1505A>C (p.Glu502Ala) c.1748A>C (p.Glu583Ala) c.1466A>C (p.Glu489Ala) c.1550A>C (p.Glu517Ala) c.1709A>C (p.Glu570Ala) c.1538A>C (p.Glu513Ala) c.1643A>C (p.Glu548Ala) n.753A>C c.1070A>C (p.Glu357Ala) c.1727A>C (p.Glu576Ala) c.1655A>C (p.Glu552Ala) c.1604A>C (p.Glu535Ala) c.1520A>C (p.Glu507Ala) c.1247A>C (p.Glu416Ala) c.2033A>C (p.Glu678Ala) c.2024A>C (p.Glu675Ala) c.2021A>C (p.Glu674Ala) c.1724A>C (p.Glu575Ala) c.1235A>C (p.Glu412Ala) c.1715A>C (p.Glu572Ala) c.1640A>C (p.Glu547Ala) c.1601A>C (p.Glu534Ala) c.1514A>C (p.Glu505Ala) c.1508A>C (p.Glu503Ala) c.1337A>C (p.Glu446Ala) c.1493A>C (p.Glu498Ala) c.1661A>C (p.Glu554Ala) | |
| 18 | g.55228997C>A | CA402528919 | TCF4 | c.1729G>T (p.Glu577Ter) c.1609G>T (p.Glu537Ter) n.1409G>T c.1657G>T (p.Glu553Ter) c.*1437G>T (n.*1437G>T) c.1339G>T (p.Glu447Ter) c.*1607G>T (n.*1607G>T) c.1081G>T (p.Glu361Ter) n.1784G>T n.1423G>T c.1327G>T c.1756G>T (p.Glu586Ter) c.*1340G>T (n.*1340G>T) c.1717G>T (p.Glu573Ter) c.2035G>T (p.Glu679Ter) c.1249G>T (p.Glu417Ter) c.1327G>T (p.Glu443Ter) c.1645G>T (p.Glu549Ter) c.1591G>T (p.Glu531Ter) c.1516G>T (p.Glu506Ter) c.1237G>T (p.Glu413Ter) n.5252G>T c.1504G>T (p.Glu502Ter) c.1747G>T (p.Glu583Ter) c.1465G>T (p.Glu489Ter) c.1549G>T (p.Glu517Ter) c.1708G>T (p.Glu570Ter) c.1537G>T (p.Glu513Ter) c.1642G>T (p.Glu548Ter) n.752G>T c.1069G>T (p.Glu357Ter) c.1726G>T (p.Glu576Ter) c.1654G>T (p.Glu552Ter) c.1603G>T (p.Glu535Ter) c.1519G>T (p.Glu507Ter) c.1246G>T (p.Glu416Ter) c.2032G>T (p.Glu678Ter) c.2023G>T (p.Glu675Ter) c.2020G>T (p.Glu674Ter) c.1723G>T (p.Glu575Ter) c.1234G>T (p.Glu412Ter) c.1714G>T (p.Glu572Ter) c.1639G>T (p.Glu547Ter) c.1600G>T (p.Glu534Ter) c.1513G>T (p.Glu505Ter) c.1507G>T (p.Glu503Ter) c.1336G>T (p.Glu446Ter) c.1492G>T (p.Glu498Ter) c.1660G>T (p.Glu554Ter) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 18 | g.55228997C= | CA2305004852 | TCF4 | c.1729G= (p.Glu577=) c.1609G= (p.Glu537=) n.1409G= c.1657G= (p.Glu553=) c.*1437G= (n.*1437G=) c.1339G= (p.Glu447=) c.*1607G= (n.*1607G=) c.1081G= (p.Glu361=) n.1784G= n.1423G= c.1327G= c.1756G= (p.Glu586=) c.*1340G= (n.*1340G=) c.1717G= (p.Glu573=) c.2035G= (p.Glu679=) c.1249G= (p.Glu417=) c.1327G= (p.Glu443=) c.1645G= (p.Glu549=) c.1591G= (p.Glu531=) c.1516G= (p.Glu506=) c.1237G= (p.Glu413=) n.5252G= c.1504G= (p.Glu502=) c.1747G= (p.Glu583=) c.1465G= (p.Glu489=) c.1549G= (p.Glu517=) c.1708G= (p.Glu570=) c.1537G= (p.Glu513=) c.1642G= (p.Glu548=) n.752G= c.1069G= (p.Glu357=) c.1726G= (p.Glu576=) c.1654G= (p.Glu552=) c.1603G= (p.Glu535=) c.1519G= (p.Glu507=) c.1246G= (p.Glu416=) c.2032G= (p.Glu678=) c.2023G= (p.Glu675=) c.2020G= (p.Glu674=) c.1723G= (p.Glu575=) c.1234G= (p.Glu412=) c.1714G= (p.Glu572=) c.1639G= (p.Glu547=) c.1600G= (p.Glu534=) c.1513G= (p.Glu505=) c.1507G= (p.Glu503=) c.1336G= (p.Glu446=) c.1492G= (p.Glu498=) c.1660G= (p.Glu554=) | |
| 18 | g.55228997C>G | CA402528920 | TCF4 | c.1729G>C (p.Glu577Gln) c.1609G>C (p.Glu537Gln) n.1409G>C c.1657G>C (p.Glu553Gln) c.*1437G>C (n.*1437G>C) c.1339G>C (p.Glu447Gln) c.*1607G>C (n.*1607G>C) c.1081G>C (p.Glu361Gln) n.1784G>C n.1423G>C c.1327G>C c.1756G>C (p.Glu586Gln) c.*1340G>C (n.*1340G>C) c.1717G>C (p.Glu573Gln) c.2035G>C (p.Glu679Gln) c.1249G>C (p.Glu417Gln) c.1327G>C (p.Glu443Gln) c.1645G>C (p.Glu549Gln) c.1591G>C (p.Glu531Gln) c.1516G>C (p.Glu506Gln) c.1237G>C (p.Glu413Gln) n.5252G>C c.1504G>C (p.Glu502Gln) c.1747G>C (p.Glu583Gln) c.1465G>C (p.Glu489Gln) c.1549G>C (p.Glu517Gln) c.1708G>C (p.Glu570Gln) c.1537G>C (p.Glu513Gln) c.1642G>C (p.Glu548Gln) n.752G>C c.1069G>C (p.Glu357Gln) c.1726G>C (p.Glu576Gln) c.1654G>C (p.Glu552Gln) c.1603G>C (p.Glu535Gln) c.1519G>C (p.Glu507Gln) c.1246G>C (p.Glu416Gln) c.2032G>C (p.Glu678Gln) c.2023G>C (p.Glu675Gln) c.2020G>C (p.Glu674Gln) c.1723G>C (p.Glu575Gln) c.1234G>C (p.Glu412Gln) c.1714G>C (p.Glu572Gln) c.1639G>C (p.Glu547Gln) c.1600G>C (p.Glu534Gln) c.1513G>C (p.Glu505Gln) c.1507G>C (p.Glu503Gln) c.1336G>C (p.Glu446Gln) c.1492G>C (p.Glu498Gln) c.1660G>C (p.Glu554Gln) | COSMIC COSMIC COSMIC |
| 18 | g.55228997C>T | CA402528921 | TCF4 | c.1729G>A (p.Glu577Lys) c.1609G>A (p.Glu537Lys) n.1409G>A c.1657G>A (p.Glu553Lys) c.*1437G>A (n.*1437G>A) c.1339G>A (p.Glu447Lys) c.*1607G>A (n.*1607G>A) c.1081G>A (p.Glu361Lys) n.1784G>A n.1423G>A c.1327G>A c.1756G>A (p.Glu586Lys) c.*1340G>A (n.*1340G>A) c.1717G>A (p.Glu573Lys) c.2035G>A (p.Glu679Lys) c.1249G>A (p.Glu417Lys) c.1327G>A (p.Glu443Lys) c.1645G>A (p.Glu549Lys) c.1591G>A (p.Glu531Lys) c.1516G>A (p.Glu506Lys) c.1237G>A (p.Glu413Lys) n.5252G>A c.1504G>A (p.Glu502Lys) c.1747G>A (p.Glu583Lys) c.1465G>A (p.Glu489Lys) c.1549G>A (p.Glu517Lys) c.1708G>A (p.Glu570Lys) c.1537G>A (p.Glu513Lys) c.1642G>A (p.Glu548Lys) n.752G>A c.1069G>A (p.Glu357Lys) c.1726G>A (p.Glu576Lys) c.1654G>A (p.Glu552Lys) c.1603G>A (p.Glu535Lys) c.1519G>A (p.Glu507Lys) c.1246G>A (p.Glu416Lys) c.2032G>A (p.Glu678Lys) c.2023G>A (p.Glu675Lys) c.2020G>A (p.Glu674Lys) c.1723G>A (p.Glu575Lys) c.1234G>A (p.Glu412Lys) c.1714G>A (p.Glu572Lys) c.1639G>A (p.Glu547Lys) c.1600G>A (p.Glu534Lys) c.1513G>A (p.Glu505Lys) c.1507G>A (p.Glu503Lys) c.1336G>A (p.Glu446Lys) c.1492G>A (p.Glu498Lys) c.1660G>A (p.Glu554Lys) | dbSNP COSMIC COSMIC COSMIC |
| 18 | g.55228998T>A | CA504003030 | TCF4 | c.1728A>T (p.Arg576=) c.1608A>T (p.Arg536=) n.1408A>T c.1656A>T (p.Arg552=) c.*1436A>T (n.*1436A>T) c.1338A>T (p.Arg446=) c.*1606A>T (n.*1606A>T) c.1080A>T (p.Arg360=) n.1783A>T n.1422A>T c.1326A>T c.1755A>T (p.Arg585=) c.*1339A>T (n.*1339A>T) c.1716A>T (p.Arg572=) c.2034A>T (p.Arg678=) c.1248A>T (p.Arg416=) c.1326A>T (p.Arg442=) c.1644A>T (p.Arg548=) c.1590A>T (p.Arg530=) c.1515A>T (p.Arg505=) c.1236A>T (p.Arg412=) n.5251A>T c.1503A>T (p.Arg501=) c.1746A>T (p.Arg582=) c.1464A>T (p.Arg488=) c.1548A>T (p.Arg516=) c.1707A>T (p.Arg569=) c.1536A>T (p.Arg512=) c.1641A>T (p.Arg547=) n.751A>T c.1068A>T (p.Arg356=) c.1725A>T (p.Arg575=) c.1653A>T (p.Arg551=) c.1602A>T (p.Arg534=) c.1518A>T (p.Arg506=) c.1245A>T (p.Arg415=) c.2031A>T (p.Arg677=) c.2022A>T (p.Arg674=) c.2019A>T (p.Arg673=) c.1722A>T (p.Arg574=) c.1233A>T (p.Arg411=) c.1713A>T (p.Arg571=) c.1638A>T (p.Arg546=) c.1599A>T (p.Arg533=) c.1512A>T (p.Arg504=) c.1506A>T (p.Arg502=) c.1335A>T (p.Arg445=) c.1491A>T (p.Arg497=) c.1659A>T (p.Arg553=) | |
| 18 | g.55228998T>C | CA504003033 | TCF4 | c.1728A>G (p.Arg576=) c.1608A>G (p.Arg536=) n.1408A>G c.1656A>G (p.Arg552=) c.*1436A>G (n.*1436A>G) c.1338A>G (p.Arg446=) c.*1606A>G (n.*1606A>G) c.1080A>G (p.Arg360=) n.1783A>G n.1422A>G c.1326A>G c.1755A>G (p.Arg585=) c.*1339A>G (n.*1339A>G) c.1716A>G (p.Arg572=) c.2034A>G (p.Arg678=) c.1248A>G (p.Arg416=) c.1326A>G (p.Arg442=) c.1644A>G (p.Arg548=) c.1590A>G (p.Arg530=) c.1515A>G (p.Arg505=) c.1236A>G (p.Arg412=) n.5251A>G c.1503A>G (p.Arg501=) c.1746A>G (p.Arg582=) c.1464A>G (p.Arg488=) c.1548A>G (p.Arg516=) c.1707A>G (p.Arg569=) c.1536A>G (p.Arg512=) c.1641A>G (p.Arg547=) n.751A>G c.1068A>G (p.Arg356=) c.1725A>G (p.Arg575=) c.1653A>G (p.Arg551=) c.1602A>G (p.Arg534=) c.1518A>G (p.Arg506=) c.1245A>G (p.Arg415=) c.2031A>G (p.Arg677=) c.2022A>G (p.Arg674=) c.2019A>G (p.Arg673=) c.1722A>G (p.Arg574=) c.1233A>G (p.Arg411=) c.1713A>G (p.Arg571=) c.1638A>G (p.Arg546=) c.1599A>G (p.Arg533=) c.1512A>G (p.Arg504=) c.1506A>G (p.Arg502=) c.1335A>G (p.Arg445=) c.1491A>G (p.Arg497=) c.1659A>G (p.Arg553=) | |
| 18 | g.55228998T>G | CA504003036 | TCF4 | c.1728A>C (p.Arg576=) c.1608A>C (p.Arg536=) n.1408A>C c.1656A>C (p.Arg552=) c.*1436A>C (n.*1436A>C) c.1338A>C (p.Arg446=) c.*1606A>C (n.*1606A>C) c.1080A>C (p.Arg360=) n.1783A>C n.1422A>C c.1326A>C c.1755A>C (p.Arg585=) c.*1339A>C (n.*1339A>C) c.1716A>C (p.Arg572=) c.2034A>C (p.Arg678=) c.1248A>C (p.Arg416=) c.1326A>C (p.Arg442=) c.1644A>C (p.Arg548=) c.1590A>C (p.Arg530=) c.1515A>C (p.Arg505=) c.1236A>C (p.Arg412=) n.5251A>C c.1503A>C (p.Arg501=) c.1746A>C (p.Arg582=) c.1464A>C (p.Arg488=) c.1548A>C (p.Arg516=) c.1707A>C (p.Arg569=) c.1536A>C (p.Arg512=) c.1641A>C (p.Arg547=) n.751A>C c.1068A>C (p.Arg356=) c.1725A>C (p.Arg575=) c.1653A>C (p.Arg551=) c.1602A>C (p.Arg534=) c.1518A>C (p.Arg506=) c.1245A>C (p.Arg415=) c.2031A>C (p.Arg677=) c.2022A>C (p.Arg674=) c.2019A>C (p.Arg673=) c.1722A>C (p.Arg574=) c.1233A>C (p.Arg411=) c.1713A>C (p.Arg571=) c.1638A>C (p.Arg546=) c.1599A>C (p.Arg533=) c.1512A>C (p.Arg504=) c.1506A>C (p.Arg502=) c.1335A>C (p.Arg445=) c.1491A>C (p.Arg497=) c.1659A>C (p.Arg553=) | |
| 18 | g.55228999C>A | CA402528922 | TCF4 | c.1727G>T (p.Arg576Leu) c.1607G>T (p.Arg536Leu) n.1407G>T c.1655G>T (p.Arg552Leu) c.*1435G>T (n.*1435G>T) c.1337G>T (p.Arg446Leu) c.*1605G>T (n.*1605G>T) c.1079G>T (p.Arg360Leu) n.1782G>T n.1421G>T c.1325G>T c.1754G>T (p.Arg585Leu) c.*1338G>T (n.*1338G>T) c.1715G>T (p.Arg572Leu) c.2033G>T (p.Arg678Leu) c.1247G>T (p.Arg416Leu) c.1325G>T (p.Arg442Leu) c.1643G>T (p.Arg548Leu) c.1589G>T (p.Arg530Leu) c.1514G>T (p.Arg505Leu) c.1235G>T (p.Arg412Leu) n.5250G>T c.1502G>T (p.Arg501Leu) c.1745G>T (p.Arg582Leu) c.1463G>T (p.Arg488Leu) c.1547G>T (p.Arg516Leu) c.1706G>T (p.Arg569Leu) c.1535G>T (p.Arg512Leu) c.1640G>T (p.Arg547Leu) n.750G>T c.1067G>T (p.Arg356Leu) c.1724G>T (p.Arg575Leu) c.1652G>T (p.Arg551Leu) c.1601G>T (p.Arg534Leu) c.1517G>T (p.Arg506Leu) c.1244G>T (p.Arg415Leu) c.2030G>T (p.Arg677Leu) c.2021G>T (p.Arg674Leu) c.2018G>T (p.Arg673Leu) c.1721G>T (p.Arg574Leu) c.1232G>T (p.Arg411Leu) c.1712G>T (p.Arg571Leu) c.1637G>T (p.Arg546Leu) c.1598G>T (p.Arg533Leu) c.1511G>T (p.Arg504Leu) c.1505G>T (p.Arg502Leu) c.1334G>T (p.Arg445Leu) c.1490G>T (p.Arg497Leu) c.1658G>T (p.Arg553Leu) | ClinVar dbSNP |
| 18 | g.55228999C= | CA2305004853 | TCF4 | c.1727G= (p.Arg576=) c.1607G= (p.Arg536=) n.1407G= c.1655G= (p.Arg552=) c.*1435G= (n.*1435G=) c.1337G= (p.Arg446=) c.*1605G= (n.*1605G=) c.1079G= (p.Arg360=) n.1782G= n.1421G= c.1325G= c.1754G= (p.Arg585=) c.*1338G= (n.*1338G=) c.1715G= (p.Arg572=) c.2033G= (p.Arg678=) c.1247G= (p.Arg416=) c.1325G= (p.Arg442=) c.1643G= (p.Arg548=) c.1589G= (p.Arg530=) c.1514G= (p.Arg505=) c.1235G= (p.Arg412=) n.5250G= c.1502G= (p.Arg501=) c.1745G= (p.Arg582=) c.1463G= (p.Arg488=) c.1547G= (p.Arg516=) c.1706G= (p.Arg569=) c.1535G= (p.Arg512=) c.1640G= (p.Arg547=) n.750G= c.1067G= (p.Arg356=) c.1724G= (p.Arg575=) c.1652G= (p.Arg551=) c.1601G= (p.Arg534=) c.1517G= (p.Arg506=) c.1244G= (p.Arg415=) c.2030G= (p.Arg677=) c.2021G= (p.Arg674=) c.2018G= (p.Arg673=) c.1721G= (p.Arg574=) c.1232G= (p.Arg411=) c.1712G= (p.Arg571=) c.1637G= (p.Arg546=) c.1598G= (p.Arg533=) c.1511G= (p.Arg504=) c.1505G= (p.Arg502=) c.1334G= (p.Arg445=) c.1490G= (p.Arg497=) c.1658G= (p.Arg553=) | |
| 18 | g.55228999C>G | CA402528923 | TCF4 | c.1727G>C (p.Arg576Pro) c.1607G>C (p.Arg536Pro) n.1407G>C c.1655G>C (p.Arg552Pro) c.*1435G>C (n.*1435G>C) c.1337G>C (p.Arg446Pro) c.*1605G>C (n.*1605G>C) c.1079G>C (p.Arg360Pro) n.1782G>C n.1421G>C c.1325G>C c.1754G>C (p.Arg585Pro) c.*1338G>C (n.*1338G>C) c.1715G>C (p.Arg572Pro) c.2033G>C (p.Arg678Pro) c.1247G>C (p.Arg416Pro) c.1325G>C (p.Arg442Pro) c.1643G>C (p.Arg548Pro) c.1589G>C (p.Arg530Pro) c.1514G>C (p.Arg505Pro) c.1235G>C (p.Arg412Pro) n.5250G>C c.1502G>C (p.Arg501Pro) c.1745G>C (p.Arg582Pro) c.1463G>C (p.Arg488Pro) c.1547G>C (p.Arg516Pro) c.1706G>C (p.Arg569Pro) c.1535G>C (p.Arg512Pro) c.1640G>C (p.Arg547Pro) n.750G>C c.1067G>C (p.Arg356Pro) c.1724G>C (p.Arg575Pro) c.1652G>C (p.Arg551Pro) c.1601G>C (p.Arg534Pro) c.1517G>C (p.Arg506Pro) c.1244G>C (p.Arg415Pro) c.2030G>C (p.Arg677Pro) c.2021G>C (p.Arg674Pro) c.2018G>C (p.Arg673Pro) c.1721G>C (p.Arg574Pro) c.1232G>C (p.Arg411Pro) c.1712G>C (p.Arg571Pro) c.1637G>C (p.Arg546Pro) c.1598G>C (p.Arg533Pro) c.1511G>C (p.Arg504Pro) c.1505G>C (p.Arg502Pro) c.1334G>C (p.Arg445Pro) c.1490G>C (p.Arg497Pro) c.1658G>C (p.Arg553Pro) | |
| 18 | g.55228999C>T | CA16607615 | TCF4 | c.1727G>A (p.Arg576Gln) c.1607G>A (p.Arg536Gln) n.1407G>A c.1655G>A (p.Arg552Gln) c.*1435G>A (n.*1435G>A) c.1337G>A (p.Arg446Gln) c.*1605G>A (n.*1605G>A) c.1079G>A (p.Arg360Gln) n.1782G>A n.1421G>A c.1325G>A c.1754G>A (p.Arg585Gln) c.*1338G>A (n.*1338G>A) c.1715G>A (p.Arg572Gln) c.2033G>A (p.Arg678Gln) c.1247G>A (p.Arg416Gln) c.1325G>A (p.Arg442Gln) c.1643G>A (p.Arg548Gln) c.1589G>A (p.Arg530Gln) c.1514G>A (p.Arg505Gln) c.1235G>A (p.Arg412Gln) n.5250G>A c.1502G>A (p.Arg501Gln) c.1745G>A (p.Arg582Gln) c.1463G>A (p.Arg488Gln) c.1547G>A (p.Arg516Gln) c.1706G>A (p.Arg569Gln) c.1535G>A (p.Arg512Gln) c.1640G>A (p.Arg547Gln) n.750G>A c.1067G>A (p.Arg356Gln) c.1724G>A (p.Arg575Gln) c.1652G>A (p.Arg551Gln) c.1601G>A (p.Arg534Gln) c.1517G>A (p.Arg506Gln) c.1244G>A (p.Arg415Gln) c.2030G>A (p.Arg677Gln) c.2021G>A (p.Arg674Gln) c.2018G>A (p.Arg673Gln) c.1721G>A (p.Arg574Gln) c.1232G>A (p.Arg411Gln) c.1712G>A (p.Arg571Gln) c.1637G>A (p.Arg546Gln) c.1598G>A (p.Arg533Gln) c.1511G>A (p.Arg504Gln) c.1505G>A (p.Arg502Gln) c.1334G>A (p.Arg445Gln) c.1490G>A (p.Arg497Gln) c.1658G>A (p.Arg553Gln) | ClinVar dbSNP |
| 18 | g.55228999_55229000delinsCG | CA2305004854 | TCF4 | c.1726_1727delinsCG (p.Arg576=) c.1606_1607delinsCG (p.Arg536=) n.1406_1407delinsCG c.1654_1655delinsCG (p.Arg552=) c.*1434_*1435delinsCG (n.*1434_*1435delinsCG) c.1336_1337delinsCG (p.Arg446=) c.*1604_*1605delinsCG (n.*1604_*1605delinsCG) c.1078_1079delinsCG (p.Arg360=) n.1781_1782delinsCG n.1420_1421delinsCG c.1324_1325delinsCG c.1753_1754delinsCG (p.Arg585=) c.*1337_*1338delinsCG (n.*1337_*1338delinsCG) c.1714_1715delinsCG (p.Arg572=) c.2032_2033delinsCG (p.Arg678=) c.1246_1247delinsCG (p.Arg416=) c.1324_1325delinsCG (p.Arg442=) c.1642_1643delinsCG (p.Arg548=) c.1588_1589delinsCG (p.Arg530=) c.1513_1514delinsCG (p.Arg505=) c.1234_1235delinsCG (p.Arg412=) n.5249_5250delinsCG c.1501_1502delinsCG (p.Arg501=) c.1744_1745delinsCG (p.Arg582=) c.1462_1463delinsCG (p.Arg488=) c.1546_1547delinsCG (p.Arg516=) c.1705_1706delinsCG (p.Arg569=) c.1534_1535delinsCG (p.Arg512=) c.1639_1640delinsCG (p.Arg547=) n.749_750delinsCG c.1066_1067delinsCG (p.Arg356=) c.1723_1724delinsCG (p.Arg575=) c.1651_1652delinsCG (p.Arg551=) c.1600_1601delinsCG (p.Arg534=) c.1516_1517delinsCG (p.Arg506=) c.1243_1244delinsCG (p.Arg415=) c.2029_2030delinsCG (p.Arg677=) c.2020_2021delinsCG (p.Arg674=) c.2017_2018delinsCG (p.Arg673=) c.1720_1721delinsCG (p.Arg574=) c.1231_1232delinsCG (p.Arg411=) c.1711_1712delinsCG (p.Arg571=) c.1636_1637delinsCG (p.Arg546=) c.1597_1598delinsCG (p.Arg533=) c.1510_1511delinsCG (p.Arg504=) c.1504_1505delinsCG (p.Arg502=) c.1333_1334delinsCG (p.Arg445=) c.1489_1490delinsCG (p.Arg497=) c.1657_1658delinsCG (p.Arg553=) | |
| 18 | g.55229000G>A | CA402528924 | TCF4 | c.1726C>T (p.Arg576Ter) c.1606C>T (p.Arg536Ter) n.1406C>T c.1654C>T (p.Arg552Ter) c.*1434C>T (n.*1434C>T) c.1336C>T (p.Arg446Ter) c.*1604C>T (n.*1604C>T) c.1078C>T (p.Arg360Ter) n.1781C>T n.1420C>T c.1324C>T c.1753C>T (p.Arg585Ter) c.*1337C>T (n.*1337C>T) c.1714C>T (p.Arg572Ter) c.2032C>T (p.Arg678Ter) c.1246C>T (p.Arg416Ter) c.1324C>T (p.Arg442Ter) c.1642C>T (p.Arg548Ter) c.1588C>T (p.Arg530Ter) c.1513C>T (p.Arg505Ter) c.1234C>T (p.Arg412Ter) n.5249C>T c.1501C>T (p.Arg501Ter) c.1744C>T (p.Arg582Ter) c.1462C>T (p.Arg488Ter) c.1546C>T (p.Arg516Ter) c.1705C>T (p.Arg569Ter) c.1534C>T (p.Arg512Ter) c.1639C>T (p.Arg547Ter) n.749C>T c.1066C>T (p.Arg356Ter) c.1723C>T (p.Arg575Ter) c.1651C>T (p.Arg551Ter) c.1600C>T (p.Arg534Ter) c.1516C>T (p.Arg506Ter) c.1243C>T (p.Arg415Ter) c.2029C>T (p.Arg677Ter) c.2020C>T (p.Arg674Ter) c.2017C>T (p.Arg673Ter) c.1720C>T (p.Arg574Ter) c.1231C>T (p.Arg411Ter) c.1711C>T (p.Arg571Ter) c.1636C>T (p.Arg546Ter) c.1597C>T (p.Arg533Ter) c.1510C>T (p.Arg504Ter) c.1504C>T (p.Arg502Ter) c.1333C>T (p.Arg445Ter) c.1489C>T (p.Arg497Ter) c.1657C>T (p.Arg553Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 18 | g.55229000G>C | CA402528925 | TCF4 | c.1726C>G (p.Arg576Gly) c.1606C>G (p.Arg536Gly) n.1406C>G c.1654C>G (p.Arg552Gly) c.*1434C>G (n.*1434C>G) c.1336C>G (p.Arg446Gly) c.*1604C>G (n.*1604C>G) c.1078C>G (p.Arg360Gly) n.1781C>G n.1420C>G c.1324C>G c.1753C>G (p.Arg585Gly) c.*1337C>G (n.*1337C>G) c.1714C>G (p.Arg572Gly) c.2032C>G (p.Arg678Gly) c.1246C>G (p.Arg416Gly) c.1324C>G (p.Arg442Gly) c.1642C>G (p.Arg548Gly) c.1588C>G (p.Arg530Gly) c.1513C>G (p.Arg505Gly) c.1234C>G (p.Arg412Gly) n.5249C>G c.1501C>G (p.Arg501Gly) c.1744C>G (p.Arg582Gly) c.1462C>G (p.Arg488Gly) c.1546C>G (p.Arg516Gly) c.1705C>G (p.Arg569Gly) c.1534C>G (p.Arg512Gly) c.1639C>G (p.Arg547Gly) n.749C>G c.1066C>G (p.Arg356Gly) c.1723C>G (p.Arg575Gly) c.1651C>G (p.Arg551Gly) c.1600C>G (p.Arg534Gly) c.1516C>G (p.Arg506Gly) c.1243C>G (p.Arg415Gly) c.2029C>G (p.Arg677Gly) c.2020C>G (p.Arg674Gly) c.2017C>G (p.Arg673Gly) c.1720C>G (p.Arg574Gly) c.1231C>G (p.Arg411Gly) c.1711C>G (p.Arg571Gly) c.1636C>G (p.Arg546Gly) c.1597C>G (p.Arg533Gly) c.1510C>G (p.Arg504Gly) c.1504C>G (p.Arg502Gly) c.1333C>G (p.Arg445Gly) c.1489C>G (p.Arg497Gly) c.1657C>G (p.Arg553Gly) | |
| 18 | g.55229000G= | CA2305004855 | TCF4 | c.1726C= (p.Arg576=) c.1606C= (p.Arg536=) n.1406C= c.1654C= (p.Arg552=) c.*1434C= (n.*1434C=) c.1336C= (p.Arg446=) c.*1604C= (n.*1604C=) c.1078C= (p.Arg360=) n.1781C= n.1420C= c.1324C= c.1753C= (p.Arg585=) c.*1337C= (n.*1337C=) c.1714C= (p.Arg572=) c.2032C= (p.Arg678=) c.1246C= (p.Arg416=) c.1324C= (p.Arg442=) c.1642C= (p.Arg548=) c.1588C= (p.Arg530=) c.1513C= (p.Arg505=) c.1234C= (p.Arg412=) n.5249C= c.1501C= (p.Arg501=) c.1744C= (p.Arg582=) c.1462C= (p.Arg488=) c.1546C= (p.Arg516=) c.1705C= (p.Arg569=) c.1534C= (p.Arg512=) c.1639C= (p.Arg547=) n.749C= c.1066C= (p.Arg356=) c.1723C= (p.Arg575=) c.1651C= (p.Arg551=) c.1600C= (p.Arg534=) c.1516C= (p.Arg506=) c.1243C= (p.Arg415=) c.2029C= (p.Arg677=) c.2020C= (p.Arg674=) c.2017C= (p.Arg673=) c.1720C= (p.Arg574=) c.1231C= (p.Arg411=) c.1711C= (p.Arg571=) c.1636C= (p.Arg546=) c.1597C= (p.Arg533=) c.1510C= (p.Arg504=) c.1504C= (p.Arg502=) c.1333C= (p.Arg445=) c.1489C= (p.Arg497=) c.1657C= (p.Arg553=) | |
| 18 | g.55229000G>T | CA504003044 | TCF4 | c.1726C>A (p.Arg576=) c.1606C>A (p.Arg536=) n.1406C>A c.1654C>A (p.Arg552=) c.*1434C>A (n.*1434C>A) c.1336C>A (p.Arg446=) c.*1604C>A (n.*1604C>A) c.1078C>A (p.Arg360=) n.1781C>A n.1420C>A c.1324C>A c.1753C>A (p.Arg585=) c.*1337C>A (n.*1337C>A) c.1714C>A (p.Arg572=) c.2032C>A (p.Arg678=) c.1246C>A (p.Arg416=) c.1324C>A (p.Arg442=) c.1642C>A (p.Arg548=) c.1588C>A (p.Arg530=) c.1513C>A (p.Arg505=) c.1234C>A (p.Arg412=) n.5249C>A c.1501C>A (p.Arg501=) c.1744C>A (p.Arg582=) c.1462C>A (p.Arg488=) c.1546C>A (p.Arg516=) c.1705C>A (p.Arg569=) c.1534C>A (p.Arg512=) c.1639C>A (p.Arg547=) n.749C>A c.1066C>A (p.Arg356=) c.1723C>A (p.Arg575=) c.1651C>A (p.Arg551=) c.1600C>A (p.Arg534=) c.1516C>A (p.Arg506=) c.1243C>A (p.Arg415=) c.2029C>A (p.Arg677=) c.2020C>A (p.Arg674=) c.2017C>A (p.Arg673=) c.1720C>A (p.Arg574=) c.1231C>A (p.Arg411=) c.1711C>A (p.Arg571=) c.1636C>A (p.Arg546=) c.1597C>A (p.Arg533=) c.1510C>A (p.Arg504=) c.1504C>A (p.Arg502=) c.1333C>A (p.Arg445=) c.1489C>A (p.Arg497=) c.1657C>A (p.Arg553=) | |
| 18 | g.55229002del | CA658799067 | TCF4 | c.1726del (p.Arg576GlufsTer?) c.1606del (p.Arg536GlufsTer?) n.1406del c.1654del (p.Arg552GlufsTer?) c.*1434del (n.*1434del) c.1336del (p.Arg446GlufsTer?) c.*1604del (n.*1604del) c.1078del (p.Arg360GlufsTer?) n.1781del n.1420del c.1324del c.1753del (p.Arg585GlufsTer?) c.*1337del (n.*1337del) c.1714del (p.Arg572GlufsTer?) c.2032del (p.Arg678GlufsTer?) c.1246del (p.Arg416GlufsTer?) c.1324del (p.Arg442GlufsTer?) c.1642del (p.Arg548GlufsTer?) c.1588del (p.Arg530GlufsTer?) c.1513del (p.Arg505GlufsTer?) c.1234del (p.Arg412GlufsTer?) n.5249del c.1501del (p.Arg501GlufsTer?) c.1744del (p.Arg582GlufsTer?) c.1462del (p.Arg488GlufsTer?) c.1546del (p.Arg516GlufsTer?) c.1705del (p.Arg569GlufsTer?) c.1534del (p.Arg512GlufsTer?) c.1639del (p.Arg547GlufsTer?) n.749del c.1066del (p.Arg356GlufsTer?) c.1723del (p.Arg575GlufsTer?) c.1651del (p.Arg551GlufsTer?) c.1600del (p.Arg534GlufsTer?) c.1516del (p.Arg506GlufsTer?) c.1243del (p.Arg415GlufsTer?) c.2029del (p.Arg677GlufsTer?) c.2020del (p.Arg674GlufsTer?) c.2017del (p.Arg673GlufsTer?) c.1720del (p.Arg574GlufsTer?) c.1231del (p.Arg411GlufsTer?) c.1711del (p.Arg571GlufsTer?) c.1636del (p.Arg546GlufsTer?) c.1597del (p.Arg533GlufsTer?) c.1510del (p.Arg504GlufsTer?) c.1504del (p.Arg502GlufsTer?) c.1333del (p.Arg445GlufsTer?) c.1489del (p.Arg497GlufsTer?) c.1657del (p.Arg553GlufsTer?) | ClinVar dbSNP |
| 18 | g.55229001G>A | CA504003046 | TCF4 | c.1725C>T (p.Ala575=) c.1605C>T (p.Ala535=) n.1405C>T c.1653C>T (p.Ala551=) c.*1433C>T (n.*1433C>T) c.1335C>T (p.Ala445=) c.*1603C>T (n.*1603C>T) c.1077C>T (p.Ala359=) n.1780C>T n.1419C>T c.1323C>T c.1752C>T (p.Ala584=) c.*1336C>T (n.*1336C>T) c.1713C>T (p.Ala571=) c.2031C>T (p.Ala677=) c.1245C>T (p.Ala415=) c.1323C>T (p.Ala441=) c.1641C>T (p.Ala547=) c.1587C>T (p.Ala529=) c.1512C>T (p.Ala504=) c.1233C>T (p.Ala411=) n.5248C>T c.1500C>T (p.Ala500=) c.1743C>T (p.Ala581=) c.1461C>T (p.Ala487=) c.1545C>T (p.Ala515=) c.1704C>T (p.Ala568=) c.1533C>T (p.Ala511=) c.1638C>T (p.Ala546=) n.748C>T c.1065C>T (p.Ala355=) c.1722C>T (p.Ala574=) c.1650C>T (p.Ala550=) c.1599C>T (p.Ala533=) c.1515C>T (p.Ala505=) c.1242C>T (p.Ala414=) c.2028C>T (p.Ala676=) c.2019C>T (p.Ala673=) c.2016C>T (p.Ala672=) c.1719C>T (p.Ala573=) c.1230C>T (p.Ala410=) c.1710C>T (p.Ala570=) c.1635C>T (p.Ala545=) c.1596C>T (p.Ala532=) c.1509C>T (p.Ala503=) c.1503C>T (p.Ala501=) c.1332C>T (p.Ala444=) c.1488C>T (p.Ala496=) c.1656C>T (p.Ala552=) | ClinVar dbSNP gnomAD v4 |