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 |
|---|---|---|---|---|---|
| 10 | g.86717990G>A | CA5585219 | LDB3 | n.515-737G>A c.1514G>A (p.Arg505His) c.1562G>A (p.Arg521His) c.1703G>A (p.Arg568His) c.1373G>A (p.Arg458His) c.1718G>A (p.Arg573His) c.1955G>A (p.Arg652His) c.1907G>A (p.Arg636His) c.1766G>A (p.Arg589His) c.1751G>A (p.Arg584His) c.1610G>A (p.Arg537His) c.1421G>A (p.Arg474His) c.1406G>A (p.Arg469His) c.911G>A (p.Arg304His) c.722G>A (p.Arg241His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86717990G>C | CA377451880 | LDB3 | n.515-737G>C c.1514G>C (p.Arg505Pro) c.1562G>C (p.Arg521Pro) c.1703G>C (p.Arg568Pro) c.1373G>C (p.Arg458Pro) c.1718G>C (p.Arg573Pro) c.1955G>C (p.Arg652Pro) c.1907G>C (p.Arg636Pro) c.1766G>C (p.Arg589Pro) c.1751G>C (p.Arg584Pro) c.1610G>C (p.Arg537Pro) c.1421G>C (p.Arg474Pro) c.1406G>C (p.Arg469Pro) c.911G>C (p.Arg304Pro) c.722G>C (p.Arg241Pro) | |
| 10 | g.86717990G= | CA1925632477 | LDB3 | n.515-737G= c.1514G= (p.Arg505=) c.1562G= (p.Arg521=) c.1703G= (p.Arg568=) c.1373G= (p.Arg458=) c.1718G= (p.Arg573=) c.1955G= (p.Arg652=) c.1907G= (p.Arg636=) c.1766G= (p.Arg589=) c.1751G= (p.Arg584=) c.1610G= (p.Arg537=) c.1421G= (p.Arg474=) c.1406G= (p.Arg469=) c.911G= (p.Arg304=) c.722G= (p.Arg241=) | |
| 10 | g.86717990G>T | CA377451881 | LDB3 | n.515-737G>T c.1514G>T (p.Arg505Leu) c.1562G>T (p.Arg521Leu) c.1703G>T (p.Arg568Leu) c.1373G>T (p.Arg458Leu) c.1718G>T (p.Arg573Leu) c.1955G>T (p.Arg652Leu) c.1907G>T (p.Arg636Leu) c.1766G>T (p.Arg589Leu) c.1751G>T (p.Arg584Leu) c.1610G>T (p.Arg537Leu) c.1421G>T (p.Arg474Leu) c.1406G>T (p.Arg469Leu) c.911G>T (p.Arg304Leu) c.722G>T (p.Arg241Leu) | gnomAD v4 |
| 10 | g.86717991T>A | CA470308626 | LDB3 | n.515-736T>A c.1515T>A (p.Arg505=) c.1563T>A (p.Arg521=) c.1704T>A (p.Arg568=) c.1374T>A (p.Arg458=) c.1719T>A (p.Arg573=) c.1956T>A (p.Arg652=) c.1908T>A (p.Arg636=) c.1767T>A (p.Arg589=) c.1752T>A (p.Arg584=) c.1611T>A (p.Arg537=) c.1422T>A (p.Arg474=) c.1407T>A (p.Arg469=) c.912T>A (p.Arg304=) c.723T>A (p.Arg241=) | |
| 10 | g.86717991T>C | CA470308627 | LDB3 | n.515-736T>C c.1515T>C (p.Arg505=) c.1563T>C (p.Arg521=) c.1704T>C (p.Arg568=) c.1374T>C (p.Arg458=) c.1719T>C (p.Arg573=) c.1956T>C (p.Arg652=) c.1908T>C (p.Arg636=) c.1767T>C (p.Arg589=) c.1752T>C (p.Arg584=) c.1611T>C (p.Arg537=) c.1422T>C (p.Arg474=) c.1407T>C (p.Arg469=) c.912T>C (p.Arg304=) c.723T>C (p.Arg241=) | |
| 10 | g.86717991T>G | CA470308629 | LDB3 | n.515-736T>G c.1515T>G (p.Arg505=) c.1563T>G (p.Arg521=) c.1704T>G (p.Arg568=) c.1374T>G (p.Arg458=) c.1719T>G (p.Arg573=) c.1956T>G (p.Arg652=) c.1908T>G (p.Arg636=) c.1767T>G (p.Arg589=) c.1752T>G (p.Arg584=) c.1611T>G (p.Arg537=) c.1422T>G (p.Arg474=) c.1407T>G (p.Arg469=) c.912T>G (p.Arg304=) c.723T>G (p.Arg241=) | |
| 10 | g.86717992T>A | CA377451886 | LDB3 | n.515-735T>A c.1516T>A (p.Ser506Thr) c.1564T>A (p.Ser522Thr) c.1705T>A (p.Ser569Thr) c.1375T>A (p.Ser459Thr) c.1720T>A (p.Ser574Thr) c.1957T>A (p.Ser653Thr) c.1909T>A (p.Ser637Thr) c.1768T>A (p.Ser590Thr) c.1753T>A (p.Ser585Thr) c.1612T>A (p.Ser538Thr) c.1423T>A (p.Ser475Thr) c.1408T>A (p.Ser470Thr) c.913T>A (p.Ser305Thr) c.724T>A (p.Ser242Thr) | |
| 10 | g.86717992T>C | CA377451885 | LDB3 | n.515-735T>C c.1516T>C (p.Ser506Pro) c.1564T>C (p.Ser522Pro) c.1705T>C (p.Ser569Pro) c.1375T>C (p.Ser459Pro) c.1720T>C (p.Ser574Pro) c.1957T>C (p.Ser653Pro) c.1909T>C (p.Ser637Pro) c.1768T>C (p.Ser590Pro) c.1753T>C (p.Ser585Pro) c.1612T>C (p.Ser538Pro) c.1423T>C (p.Ser475Pro) c.1408T>C (p.Ser470Pro) c.913T>C (p.Ser305Pro) c.724T>C (p.Ser242Pro) | |
| 10 | g.86717992T>G | CA377451883 | LDB3 | n.515-735T>G c.1516T>G (p.Ser506Ala) c.1564T>G (p.Ser522Ala) c.1705T>G (p.Ser569Ala) c.1375T>G (p.Ser459Ala) c.1720T>G (p.Ser574Ala) c.1957T>G (p.Ser653Ala) c.1909T>G (p.Ser637Ala) c.1768T>G (p.Ser590Ala) c.1753T>G (p.Ser585Ala) c.1612T>G (p.Ser538Ala) c.1423T>G (p.Ser475Ala) c.1408T>G (p.Ser470Ala) c.913T>G (p.Ser305Ala) c.724T>G (p.Ser242Ala) | |
| 10 | g.86717993C>A | CA377451888 | LDB3 | n.515-734C>A c.1517C>A (p.Ser506Tyr) c.1565C>A (p.Ser522Tyr) c.1706C>A (p.Ser569Tyr) c.1376C>A (p.Ser459Tyr) c.1721C>A (p.Ser574Tyr) c.1958C>A (p.Ser653Tyr) c.1910C>A (p.Ser637Tyr) c.1769C>A (p.Ser590Tyr) c.1754C>A (p.Ser585Tyr) c.1613C>A (p.Ser538Tyr) c.1424C>A (p.Ser475Tyr) c.1409C>A (p.Ser470Tyr) c.914C>A (p.Ser305Tyr) c.725C>A (p.Ser242Tyr) | |
| 10 | g.86717993C>G | CA377451889 | LDB3 | n.515-734C>G c.1517C>G (p.Ser506Cys) c.1565C>G (p.Ser522Cys) c.1706C>G (p.Ser569Cys) c.1376C>G (p.Ser459Cys) c.1721C>G (p.Ser574Cys) c.1958C>G (p.Ser653Cys) c.1910C>G (p.Ser637Cys) c.1769C>G (p.Ser590Cys) c.1754C>G (p.Ser585Cys) c.1613C>G (p.Ser538Cys) c.1424C>G (p.Ser475Cys) c.1409C>G (p.Ser470Cys) c.914C>G (p.Ser305Cys) c.725C>G (p.Ser242Cys) | |
| 10 | g.86717993C>T | CA377451891 | LDB3 | n.515-734C>T c.1517C>T (p.Ser506Phe) c.1565C>T (p.Ser522Phe) c.1706C>T (p.Ser569Phe) c.1376C>T (p.Ser459Phe) c.1721C>T (p.Ser574Phe) c.1958C>T (p.Ser653Phe) c.1910C>T (p.Ser637Phe) c.1769C>T (p.Ser590Phe) c.1754C>T (p.Ser585Phe) c.1613C>T (p.Ser538Phe) c.1424C>T (p.Ser475Phe) c.1409C>T (p.Ser470Phe) c.914C>T (p.Ser305Phe) c.725C>T (p.Ser242Phe) | |
| 10 | g.86717994T>A | CA470308635 | LDB3 | n.515-733T>A c.1518T>A (p.Ser506=) c.1566T>A (p.Ser522=) c.1707T>A (p.Ser569=) c.1377T>A (p.Ser459=) c.1722T>A (p.Ser574=) c.1959T>A (p.Ser653=) c.1911T>A (p.Ser637=) c.1770T>A (p.Ser590=) c.1755T>A (p.Ser585=) c.1614T>A (p.Ser538=) c.1425T>A (p.Ser475=) c.1410T>A (p.Ser470=) c.915T>A (p.Ser305=) c.726T>A (p.Ser242=) | |
| 10 | g.86717994T>C | CA470308636 | LDB3 | n.515-733T>C c.1518T>C (p.Ser506=) c.1566T>C (p.Ser522=) c.1707T>C (p.Ser569=) c.1377T>C (p.Ser459=) c.1722T>C (p.Ser574=) c.1959T>C (p.Ser653=) c.1911T>C (p.Ser637=) c.1770T>C (p.Ser590=) c.1755T>C (p.Ser585=) c.1614T>C (p.Ser538=) c.1425T>C (p.Ser475=) c.1410T>C (p.Ser470=) c.915T>C (p.Ser305=) c.726T>C (p.Ser242=) | ClinVar gnomAD v4 |
| 10 | g.86717994T>G | CA470308638 | LDB3 | n.515-733T>G c.1518T>G (p.Ser506=) c.1566T>G (p.Ser522=) c.1707T>G (p.Ser569=) c.1377T>G (p.Ser459=) c.1722T>G (p.Ser574=) c.1959T>G (p.Ser653=) c.1911T>G (p.Ser637=) c.1770T>G (p.Ser590=) c.1755T>G (p.Ser585=) c.1614T>G (p.Ser538=) c.1425T>G (p.Ser475=) c.1410T>G (p.Ser470=) c.915T>G (p.Ser305=) c.726T>G (p.Ser242=) | |
| 10 | g.86717995T>A | CA377451893 | LDB3 | n.515-732T>A c.1519T>A (p.Trp507Arg) c.1567T>A (p.Trp523Arg) c.1708T>A (p.Trp570Arg) c.1378T>A (p.Trp460Arg) c.1723T>A (p.Trp575Arg) c.1960T>A (p.Trp654Arg) c.1912T>A (p.Trp638Arg) c.1771T>A (p.Trp591Arg) c.1756T>A (p.Trp586Arg) c.1615T>A (p.Trp539Arg) c.1426T>A (p.Trp476Arg) c.1411T>A (p.Trp471Arg) c.916T>A (p.Trp306Arg) c.727T>A (p.Trp243Arg) | gnomAD v4 |
| 10 | g.86717995T>C | CA377451894 | LDB3 | n.515-732T>C c.1519T>C (p.Trp507Arg) c.1567T>C (p.Trp523Arg) c.1708T>C (p.Trp570Arg) c.1378T>C (p.Trp460Arg) c.1723T>C (p.Trp575Arg) c.1960T>C (p.Trp654Arg) c.1912T>C (p.Trp638Arg) c.1771T>C (p.Trp591Arg) c.1756T>C (p.Trp586Arg) c.1615T>C (p.Trp539Arg) c.1426T>C (p.Trp476Arg) c.1411T>C (p.Trp471Arg) c.916T>C (p.Trp306Arg) c.727T>C (p.Trp243Arg) | gnomAD v4 |
| 10 | g.86717995T>G | CA377451895 | LDB3 | n.515-732T>G c.1519T>G (p.Trp507Gly) c.1567T>G (p.Trp523Gly) c.1708T>G (p.Trp570Gly) c.1378T>G (p.Trp460Gly) c.1723T>G (p.Trp575Gly) c.1960T>G (p.Trp654Gly) c.1912T>G (p.Trp638Gly) c.1771T>G (p.Trp591Gly) c.1756T>G (p.Trp586Gly) c.1615T>G (p.Trp539Gly) c.1426T>G (p.Trp476Gly) c.1411T>G (p.Trp471Gly) c.916T>G (p.Trp306Gly) c.727T>G (p.Trp243Gly) | |
| 10 | g.86717996G>A | CA377451896 | LDB3 | n.515-731G>A c.1520G>A (p.Trp507Ter) c.1568G>A (p.Trp523Ter) c.1709G>A (p.Trp570Ter) c.1379G>A (p.Trp460Ter) c.1724G>A (p.Trp575Ter) c.1961G>A (p.Trp654Ter) c.1913G>A (p.Trp638Ter) c.1772G>A (p.Trp591Ter) c.1757G>A (p.Trp586Ter) c.1616G>A (p.Trp539Ter) c.1427G>A (p.Trp476Ter) c.1412G>A (p.Trp471Ter) c.917G>A (p.Trp306Ter) c.728G>A (p.Trp243Ter) | |
| 10 | g.86717996G>C | CA377451898 | LDB3 | n.515-731G>C c.1520G>C (p.Trp507Ser) c.1568G>C (p.Trp523Ser) c.1709G>C (p.Trp570Ser) c.1379G>C (p.Trp460Ser) c.1724G>C (p.Trp575Ser) c.1961G>C (p.Trp654Ser) c.1913G>C (p.Trp638Ser) c.1772G>C (p.Trp591Ser) c.1757G>C (p.Trp586Ser) c.1616G>C (p.Trp539Ser) c.1427G>C (p.Trp476Ser) c.1412G>C (p.Trp471Ser) c.917G>C (p.Trp306Ser) c.728G>C (p.Trp243Ser) | |
| 10 | g.86717996G>T | CA377451899 | LDB3 | n.515-731G>T c.1520G>T (p.Trp507Leu) c.1568G>T (p.Trp523Leu) c.1709G>T (p.Trp570Leu) c.1379G>T (p.Trp460Leu) c.1724G>T (p.Trp575Leu) c.1961G>T (p.Trp654Leu) c.1913G>T (p.Trp638Leu) c.1772G>T (p.Trp591Leu) c.1757G>T (p.Trp586Leu) c.1616G>T (p.Trp539Leu) c.1427G>T (p.Trp476Leu) c.1412G>T (p.Trp471Leu) c.917G>T (p.Trp306Leu) c.728G>T (p.Trp243Leu) | gnomAD v4 |
| 10 | g.86717997G>A | CA377451901 | LDB3 | n.515-730G>A c.1521G>A (p.Trp507Ter) c.1569G>A (p.Trp523Ter) c.1710G>A (p.Trp570Ter) c.1380G>A (p.Trp460Ter) c.1725G>A (p.Trp575Ter) c.1962G>A (p.Trp654Ter) c.1914G>A (p.Trp638Ter) c.1773G>A (p.Trp591Ter) c.1758G>A (p.Trp586Ter) c.1617G>A (p.Trp539Ter) c.1428G>A (p.Trp476Ter) c.1413G>A (p.Trp471Ter) c.918G>A (p.Trp306Ter) c.729G>A (p.Trp243Ter) | dbSNP |
| 10 | g.86717997G>C | CA377451902 | LDB3 | n.515-730G>C c.1521G>C (p.Trp507Cys) c.1569G>C (p.Trp523Cys) c.1710G>C (p.Trp570Cys) c.1380G>C (p.Trp460Cys) c.1725G>C (p.Trp575Cys) c.1962G>C (p.Trp654Cys) c.1914G>C (p.Trp638Cys) c.1773G>C (p.Trp591Cys) c.1758G>C (p.Trp586Cys) c.1617G>C (p.Trp539Cys) c.1428G>C (p.Trp476Cys) c.1413G>C (p.Trp471Cys) c.918G>C (p.Trp306Cys) c.729G>C (p.Trp243Cys) | |
| 10 | g.86717997G= | CA1925632478 | LDB3 | n.515-730G= c.1521G= (p.Trp507=) c.1569G= (p.Trp523=) c.1710G= (p.Trp570=) c.1380G= (p.Trp460=) c.1725G= (p.Trp575=) c.1962G= (p.Trp654=) c.1914G= (p.Trp638=) c.1773G= (p.Trp591=) c.1758G= (p.Trp586=) c.1617G= (p.Trp539=) c.1428G= (p.Trp476=) c.1413G= (p.Trp471=) c.918G= (p.Trp306=) c.729G= (p.Trp243=) | |
| 10 | g.86717997G>T | CA377451904 | LDB3 | n.515-730G>T c.1521G>T (p.Trp507Cys) c.1569G>T (p.Trp523Cys) c.1710G>T (p.Trp570Cys) c.1380G>T (p.Trp460Cys) c.1725G>T (p.Trp575Cys) c.1962G>T (p.Trp654Cys) c.1914G>T (p.Trp638Cys) c.1773G>T (p.Trp591Cys) c.1758G>T (p.Trp586Cys) c.1617G>T (p.Trp539Cys) c.1428G>T (p.Trp476Cys) c.1413G>T (p.Trp471Cys) c.918G>T (p.Trp306Cys) c.729G>T (p.Trp243Cys) | |
| 10 | g.86717998C>A | CA377451908 | LDB3 | n.515-729C>A c.1522C>A (p.His508Asn) c.1570C>A (p.His524Asn) c.1711C>A (p.His571Asn) c.1381C>A (p.His461Asn) c.1726C>A (p.His576Asn) c.1963C>A (p.His655Asn) c.1915C>A (p.His639Asn) c.1774C>A (p.His592Asn) c.1759C>A (p.His587Asn) c.1618C>A (p.His540Asn) c.1429C>A (p.His477Asn) c.1414C>A (p.His472Asn) c.919C>A (p.His307Asn) c.730C>A (p.His244Asn) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86717998C= | CA1925632479 | LDB3 | n.515-729C= c.1522C= (p.His508=) c.1570C= (p.His524=) c.1711C= (p.His571=) c.1381C= (p.His461=) c.1726C= (p.His576=) c.1963C= (p.His655=) c.1915C= (p.His639=) c.1774C= (p.His592=) c.1759C= (p.His587=) c.1618C= (p.His540=) c.1429C= (p.His477=) c.1414C= (p.His472=) c.919C= (p.His307=) c.730C= (p.His244=) | |
| 10 | g.86717998C>G | CA377451906 | LDB3 | n.515-729C>G c.1522C>G (p.His508Asp) c.1570C>G (p.His524Asp) c.1711C>G (p.His571Asp) c.1381C>G (p.His461Asp) c.1726C>G (p.His576Asp) c.1963C>G (p.His655Asp) c.1915C>G (p.His639Asp) c.1774C>G (p.His592Asp) c.1759C>G (p.His587Asp) c.1618C>G (p.His540Asp) c.1429C>G (p.His477Asp) c.1414C>G (p.His472Asp) c.919C>G (p.His307Asp) c.730C>G (p.His244Asp) | |
| 10 | g.86717998C>T | CA5585220 | LDB3 | n.515-729C>T c.1522C>T (p.His508Tyr) c.1570C>T (p.His524Tyr) c.1711C>T (p.His571Tyr) c.1381C>T (p.His461Tyr) c.1726C>T (p.His576Tyr) c.1963C>T (p.His655Tyr) c.1915C>T (p.His639Tyr) c.1774C>T (p.His592Tyr) c.1759C>T (p.His587Tyr) c.1618C>T (p.His540Tyr) c.1429C>T (p.His477Tyr) c.1414C>T (p.His472Tyr) c.919C>T (p.His307Tyr) c.730C>T (p.His244Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.86717999A>C | CA377451909 | LDB3 | n.515-728A>C c.1523A>C (p.His508Pro) c.1571A>C (p.His524Pro) c.1712A>C (p.His571Pro) c.1382A>C (p.His461Pro) c.1727A>C (p.His576Pro) c.1964A>C (p.His655Pro) c.1916A>C (p.His639Pro) c.1775A>C (p.His592Pro) c.1760A>C (p.His587Pro) c.1619A>C (p.His540Pro) c.1430A>C (p.His477Pro) c.1415A>C (p.His472Pro) c.920A>C (p.His307Pro) c.731A>C (p.His244Pro) | |
| 10 | g.86717999A>G | CA377451911 | LDB3 | n.515-728A>G c.1523A>G (p.His508Arg) c.1571A>G (p.His524Arg) c.1712A>G (p.His571Arg) c.1382A>G (p.His461Arg) c.1727A>G (p.His576Arg) c.1964A>G (p.His655Arg) c.1916A>G (p.His639Arg) c.1775A>G (p.His592Arg) c.1760A>G (p.His587Arg) c.1619A>G (p.His540Arg) c.1430A>G (p.His477Arg) c.1415A>G (p.His472Arg) c.920A>G (p.His307Arg) c.731A>G (p.His244Arg) | |
| 10 | g.86717999A>T | CA377451913 | LDB3 | n.515-728A>T c.1523A>T (p.His508Leu) c.1571A>T (p.His524Leu) c.1712A>T (p.His571Leu) c.1382A>T (p.His461Leu) c.1727A>T (p.His576Leu) c.1964A>T (p.His655Leu) c.1916A>T (p.His639Leu) c.1775A>T (p.His592Leu) c.1760A>T (p.His587Leu) c.1619A>T (p.His540Leu) c.1430A>T (p.His477Leu) c.1415A>T (p.His472Leu) c.920A>T (p.His307Leu) c.731A>T (p.His244Leu) | |
| 10 | g.86718000C>A | CA377451915 | LDB3 | n.515-727C>A c.1524C>A (p.His508Gln) c.1572C>A (p.His524Gln) c.1713C>A (p.His571Gln) c.1383C>A (p.His461Gln) c.1728C>A (p.His576Gln) c.1965C>A (p.His655Gln) c.1917C>A (p.His639Gln) c.1776C>A (p.His592Gln) c.1761C>A (p.His587Gln) c.1620C>A (p.His540Gln) c.1431C>A (p.His477Gln) c.1416C>A (p.His472Gln) c.921C>A (p.His307Gln) c.732C>A (p.His244Gln) | gnomAD v4 |
| 10 | g.86718000C>G | CA377451916 | LDB3 | n.515-727C>G c.1524C>G (p.His508Gln) c.1572C>G (p.His524Gln) c.1713C>G (p.His571Gln) c.1383C>G (p.His461Gln) c.1728C>G (p.His576Gln) c.1965C>G (p.His655Gln) c.1917C>G (p.His639Gln) c.1776C>G (p.His592Gln) c.1761C>G (p.His587Gln) c.1620C>G (p.His540Gln) c.1431C>G (p.His477Gln) c.1416C>G (p.His472Gln) c.921C>G (p.His307Gln) c.732C>G (p.His244Gln) | |
| 10 | g.86718000C>T | CA470308650 | LDB3 | n.515-727C>T c.1524C>T (p.His508=) c.1572C>T (p.His524=) c.1713C>T (p.His571=) c.1383C>T (p.His461=) c.1728C>T (p.His576=) c.1965C>T (p.His655=) c.1917C>T (p.His639=) c.1776C>T (p.His592=) c.1761C>T (p.His587=) c.1620C>T (p.His540=) c.1431C>T (p.His477=) c.1416C>T (p.His472=) c.921C>T (p.His307=) c.732C>T (p.His244=) | |
| 10 | g.86718001C>A | CA5585221 | LDB3 | n.515-726C>A c.1525C>A (p.Pro509Thr) c.1573C>A (p.Pro525Thr) c.1714C>A (p.Pro572Thr) c.1384C>A (p.Pro462Thr) c.1729C>A (p.Pro577Thr) c.1966C>A (p.Pro656Thr) c.1918C>A (p.Pro640Thr) c.1777C>A (p.Pro593Thr) c.1762C>A (p.Pro588Thr) c.1621C>A (p.Pro541Thr) c.1432C>A (p.Pro478Thr) c.1417C>A (p.Pro473Thr) c.922C>A (p.Pro308Thr) c.733C>A (p.Pro245Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.86718001C= | CA1925632480 | LDB3 | n.515-726C= c.1525C= (p.Pro509=) c.1573C= (p.Pro525=) c.1714C= (p.Pro572=) c.1384C= (p.Pro462=) c.1729C= (p.Pro577=) c.1966C= (p.Pro656=) c.1918C= (p.Pro640=) c.1777C= (p.Pro593=) c.1762C= (p.Pro588=) c.1621C= (p.Pro541=) c.1432C= (p.Pro478=) c.1417C= (p.Pro473=) c.922C= (p.Pro308=) c.733C= (p.Pro245=) | |
| 10 | g.86718001C>G | CA377451920 | LDB3 | n.515-726C>G c.1525C>G (p.Pro509Ala) c.1573C>G (p.Pro525Ala) c.1714C>G (p.Pro572Ala) c.1384C>G (p.Pro462Ala) c.1729C>G (p.Pro577Ala) c.1966C>G (p.Pro656Ala) c.1918C>G (p.Pro640Ala) c.1777C>G (p.Pro593Ala) c.1762C>G (p.Pro588Ala) c.1621C>G (p.Pro541Ala) c.1432C>G (p.Pro478Ala) c.1417C>G (p.Pro473Ala) c.922C>G (p.Pro308Ala) c.733C>G (p.Pro245Ala) | |
| 10 | g.86718001C>T | CA377451918 | LDB3 | n.515-726C>T c.1525C>T (p.Pro509Ser) c.1573C>T (p.Pro525Ser) c.1714C>T (p.Pro572Ser) c.1384C>T (p.Pro462Ser) c.1729C>T (p.Pro577Ser) c.1966C>T (p.Pro656Ser) c.1918C>T (p.Pro640Ser) c.1777C>T (p.Pro593Ser) c.1762C>T (p.Pro588Ser) c.1621C>T (p.Pro541Ser) c.1432C>T (p.Pro478Ser) c.1417C>T (p.Pro473Ser) c.922C>T (p.Pro308Ser) c.733C>T (p.Pro245Ser) | ClinVar gnomAD v4 |
| 10 | g.86718002C>A | CA377451922 | LDB3 | n.515-725C>A c.1526C>A (p.Pro509His) c.1574C>A (p.Pro525His) c.1715C>A (p.Pro572His) c.1385C>A (p.Pro462His) c.1730C>A (p.Pro577His) c.1967C>A (p.Pro656His) c.1919C>A (p.Pro640His) c.1778C>A (p.Pro593His) c.1763C>A (p.Pro588His) c.1622C>A (p.Pro541His) c.1433C>A (p.Pro478His) c.1418C>A (p.Pro473His) c.923C>A (p.Pro308His) c.734C>A (p.Pro245His) | |
| 10 | g.86718002C>G | CA377451923 | LDB3 | n.515-725C>G c.1526C>G (p.Pro509Arg) c.1574C>G (p.Pro525Arg) c.1715C>G (p.Pro572Arg) c.1385C>G (p.Pro462Arg) c.1730C>G (p.Pro577Arg) c.1967C>G (p.Pro656Arg) c.1919C>G (p.Pro640Arg) c.1778C>G (p.Pro593Arg) c.1763C>G (p.Pro588Arg) c.1622C>G (p.Pro541Arg) c.1433C>G (p.Pro478Arg) c.1418C>G (p.Pro473Arg) c.923C>G (p.Pro308Arg) c.734C>G (p.Pro245Arg) | |
| 10 | g.86718002C>T | CA377451924 | LDB3 | n.515-725C>T c.1526C>T (p.Pro509Leu) c.1574C>T (p.Pro525Leu) c.1715C>T (p.Pro572Leu) c.1385C>T (p.Pro462Leu) c.1730C>T (p.Pro577Leu) c.1967C>T (p.Pro656Leu) c.1919C>T (p.Pro640Leu) c.1778C>T (p.Pro593Leu) c.1763C>T (p.Pro588Leu) c.1622C>T (p.Pro541Leu) c.1433C>T (p.Pro478Leu) c.1418C>T (p.Pro473Leu) c.923C>T (p.Pro308Leu) c.734C>T (p.Pro245Leu) | |
| 10 | g.86718003T>A | CA470308655 | LDB3 | n.515-724T>A c.1527T>A (p.Pro509=) c.1575T>A (p.Pro525=) c.1716T>A (p.Pro572=) c.1386T>A (p.Pro462=) c.1731T>A (p.Pro577=) c.1968T>A (p.Pro656=) c.1920T>A (p.Pro640=) c.1779T>A (p.Pro593=) c.1764T>A (p.Pro588=) c.1623T>A (p.Pro541=) c.1434T>A (p.Pro478=) c.1419T>A (p.Pro473=) c.924T>A (p.Pro308=) c.735T>A (p.Pro245=) | ClinVar |
| 10 | g.86718003T>C | CA470308657 | LDB3 | n.515-724T>C c.1527T>C (p.Pro509=) c.1575T>C (p.Pro525=) c.1716T>C (p.Pro572=) c.1386T>C (p.Pro462=) c.1731T>C (p.Pro577=) c.1968T>C (p.Pro656=) c.1920T>C (p.Pro640=) c.1779T>C (p.Pro593=) c.1764T>C (p.Pro588=) c.1623T>C (p.Pro541=) c.1434T>C (p.Pro478=) c.1419T>C (p.Pro473=) c.924T>C (p.Pro308=) c.735T>C (p.Pro245=) | |
| 10 | g.86718003T>G | CA470308654 | LDB3 | n.515-724T>G c.1527T>G (p.Pro509=) c.1575T>G (p.Pro525=) c.1716T>G (p.Pro572=) c.1386T>G (p.Pro462=) c.1731T>G (p.Pro577=) c.1968T>G (p.Pro656=) c.1920T>G (p.Pro640=) c.1779T>G (p.Pro593=) c.1764T>G (p.Pro588=) c.1623T>G (p.Pro541=) c.1434T>G (p.Pro478=) c.1419T>G (p.Pro473=) c.924T>G (p.Pro308=) c.735T>G (p.Pro245=) | |
| 10 | g.86718004G>A | CA377451926 | LDB3 | n.515-723G>A c.1528G>A (p.Glu510Lys) c.1576G>A (p.Glu526Lys) c.1717G>A (p.Glu573Lys) c.1387G>A (p.Glu463Lys) c.1732G>A (p.Glu578Lys) c.1969G>A (p.Glu657Lys) c.1921G>A (p.Glu641Lys) c.1780G>A (p.Glu594Lys) c.1765G>A (p.Glu589Lys) c.1624G>A (p.Glu542Lys) c.1435G>A (p.Glu479Lys) c.1420G>A (p.Glu474Lys) c.925G>A (p.Glu309Lys) c.736G>A (p.Glu246Lys) | |
| 10 | g.86718004G>C | CA377451928 | LDB3 | n.515-723G>C c.1528G>C (p.Glu510Gln) c.1576G>C (p.Glu526Gln) c.1717G>C (p.Glu573Gln) c.1387G>C (p.Glu463Gln) c.1732G>C (p.Glu578Gln) c.1969G>C (p.Glu657Gln) c.1921G>C (p.Glu641Gln) c.1780G>C (p.Glu594Gln) c.1765G>C (p.Glu589Gln) c.1624G>C (p.Glu542Gln) c.1435G>C (p.Glu479Gln) c.1420G>C (p.Glu474Gln) c.925G>C (p.Glu309Gln) c.736G>C (p.Glu246Gln) | |
| 10 | g.86718004G>T | CA377451929 | LDB3 | n.515-723G>T c.1528G>T (p.Glu510Ter) c.1576G>T (p.Glu526Ter) c.1717G>T (p.Glu573Ter) c.1387G>T (p.Glu463Ter) c.1732G>T (p.Glu578Ter) c.1969G>T (p.Glu657Ter) c.1921G>T (p.Glu641Ter) c.1780G>T (p.Glu594Ter) c.1765G>T (p.Glu589Ter) c.1624G>T (p.Glu542Ter) c.1435G>T (p.Glu479Ter) c.1420G>T (p.Glu474Ter) c.925G>T (p.Glu309Ter) c.736G>T (p.Glu246Ter) | |
| 10 | g.86718005A>C | CA377451931 | LDB3 | n.515-722A>C c.1529A>C (p.Glu510Ala) c.1577A>C (p.Glu526Ala) c.1718A>C (p.Glu573Ala) c.1388A>C (p.Glu463Ala) c.1733A>C (p.Glu578Ala) c.1970A>C (p.Glu657Ala) c.1922A>C (p.Glu641Ala) c.1781A>C (p.Glu594Ala) c.1766A>C (p.Glu589Ala) c.1625A>C (p.Glu542Ala) c.1436A>C (p.Glu479Ala) c.1421A>C (p.Glu474Ala) c.926A>C (p.Glu309Ala) c.737A>C (p.Glu246Ala) |