| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.2934859C>A | CA412275084 | ARSL | c.1743G>T (p.Trp581Cys) c.1818G>T (p.Trp606Cys) c.1620G>T (p.Trp540Cys) c.1182G>T (p.Trp394Cys) n.1523G>T c.1731G>T (p.Trp577Cys) c.1296G>T (p.Trp432Cys) c.1581G>T (p.Trp527Cys) c.1740G>T (p.Trp580Cys) c.1608G>T (p.Trp536Cys) c.1770G>T (p.Trp590Cys) c.1257G>T (p.Trp419Cys) | |
| X | g.2934859C= | CA2412580495 | ARSL | c.1743G= (p.Trp581=) c.1818G= (p.Trp606=) c.1620G= (p.Trp540=) c.1182G= (p.Trp394=) n.1523G= c.1731G= (p.Trp577=) c.1296G= (p.Trp432=) c.1581G= (p.Trp527=) c.1740G= (p.Trp580=) c.1608G= (p.Trp536=) c.1770G= (p.Trp590=) c.1257G= (p.Trp419=) | |
| X | g.2934859C>G | CA412275085 | ARSL | c.1743G>C (p.Trp581Cys) c.1818G>C (p.Trp606Cys) c.1620G>C (p.Trp540Cys) c.1182G>C (p.Trp394Cys) n.1523G>C c.1731G>C (p.Trp577Cys) c.1296G>C (p.Trp432Cys) c.1581G>C (p.Trp527Cys) c.1740G>C (p.Trp580Cys) c.1608G>C (p.Trp536Cys) c.1770G>C (p.Trp590Cys) c.1257G>C (p.Trp419Cys) | |
| X | g.2934859C>T | CA341097 | ARSL | c.1743G>A (p.Trp581Ter) c.1818G>A (p.Trp606Ter) c.1620G>A (p.Trp540Ter) c.1182G>A (p.Trp394Ter) n.1523G>A c.1731G>A (p.Trp577Ter) c.1296G>A (p.Trp432Ter) c.1581G>A (p.Trp527Ter) c.1740G>A (p.Trp580Ter) c.1608G>A (p.Trp536Ter) c.1770G>A (p.Trp590Ter) c.1257G>A (p.Trp419Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.2934860del | CA2693015557 | ARSL | c.1743del (p.Trp581CysfsTer14) c.1818del (p.Trp606CysfsTer14) c.1620del (p.Trp540CysfsTer14) c.1182del (p.Trp394CysfsTer?) n.1523del c.1731del (p.Trp577CysfsTer14) c.1296del (p.Trp432CysfsTer?) c.1581del (p.Trp527CysfsTer14) c.1818del (p.Trp606CysfsTer?) c.1740del (p.Trp580CysfsTer14) c.1608del (p.Trp536CysfsTer14) c.1770del (p.Trp590CysfsTer14) c.1257del (p.Trp419CysfsTer14) c.1182del (p.Trp394CysfsTer14) | gnomAD v4 |
| X | g.2934860C>A | CA412275086 | ARSL | c.1742G>T (p.Trp581Leu) c.1817G>T (p.Trp606Leu) c.1619G>T (p.Trp540Leu) c.1181G>T (p.Trp394Leu) n.1522G>T c.1730G>T (p.Trp577Leu) c.1295G>T (p.Trp432Leu) c.1580G>T (p.Trp527Leu) c.1739G>T (p.Trp580Leu) c.1607G>T (p.Trp536Leu) c.1769G>T (p.Trp590Leu) c.1256G>T (p.Trp419Leu) | gnomAD v4 |
| X | g.2934860C= | CA2412580496 | ARSL | c.1742G= (p.Trp581=) c.1817G= (p.Trp606=) c.1619G= (p.Trp540=) c.1181G= (p.Trp394=) n.1522G= c.1730G= (p.Trp577=) c.1295G= (p.Trp432=) c.1580G= (p.Trp527=) c.1739G= (p.Trp580=) c.1607G= (p.Trp536=) c.1769G= (p.Trp590=) c.1256G= (p.Trp419=) | |
| X | g.2934860C>G | CA412275087 | ARSL | c.1742G>C (p.Trp581Ser) c.1817G>C (p.Trp606Ser) c.1619G>C (p.Trp540Ser) c.1181G>C (p.Trp394Ser) n.1522G>C c.1730G>C (p.Trp577Ser) c.1295G>C (p.Trp432Ser) c.1580G>C (p.Trp527Ser) c.1739G>C (p.Trp580Ser) c.1607G>C (p.Trp536Ser) c.1769G>C (p.Trp590Ser) c.1256G>C (p.Trp419Ser) | |
| X | g.2934860C>T | CA412275088 | ARSL | c.1742G>A (p.Trp581Ter) c.1817G>A (p.Trp606Ter) c.1619G>A (p.Trp540Ter) c.1181G>A (p.Trp394Ter) n.1522G>A c.1730G>A (p.Trp577Ter) c.1295G>A (p.Trp432Ter) c.1580G>A (p.Trp527Ter) c.1739G>A (p.Trp580Ter) c.1607G>A (p.Trp536Ter) c.1769G>A (p.Trp590Ter) c.1256G>A (p.Trp419Ter) | dbSNP |
| X | g.2934861A>C | CA412275089 | ARSL | c.1741T>G (p.Trp581Gly) c.1816T>G (p.Trp606Gly) c.1618T>G (p.Trp540Gly) c.1180T>G (p.Trp394Gly) n.1521T>G c.1729T>G (p.Trp577Gly) c.1294T>G (p.Trp432Gly) c.1579T>G (p.Trp527Gly) c.1738T>G (p.Trp580Gly) c.1606T>G (p.Trp536Gly) c.1768T>G (p.Trp590Gly) c.1255T>G (p.Trp419Gly) | |
| X | g.2934861A>G | CA412275090 | ARSL | c.1741T>C (p.Trp581Arg) c.1816T>C (p.Trp606Arg) c.1618T>C (p.Trp540Arg) c.1180T>C (p.Trp394Arg) n.1521T>C c.1729T>C (p.Trp577Arg) c.1294T>C (p.Trp432Arg) c.1579T>C (p.Trp527Arg) c.1738T>C (p.Trp580Arg) c.1606T>C (p.Trp536Arg) c.1768T>C (p.Trp590Arg) c.1255T>C (p.Trp419Arg) | |
| X | g.2934861A>T | CA412275091 | ARSL | c.1741T>A (p.Trp581Arg) c.1816T>A (p.Trp606Arg) c.1618T>A (p.Trp540Arg) c.1180T>A (p.Trp394Arg) n.1521T>A c.1729T>A (p.Trp577Arg) c.1294T>A (p.Trp432Arg) c.1579T>A (p.Trp527Arg) c.1738T>A (p.Trp580Arg) c.1606T>A (p.Trp536Arg) c.1768T>A (p.Trp590Arg) c.1255T>A (p.Trp419Arg) | |
| X | g.2934862G>A | CA515396299 | ARSL | c.1740C>T (p.Cys580=) c.1815C>T (p.Cys605=) c.1617C>T (p.Cys539=) c.1179C>T (p.Cys393=) n.1520C>T c.1728C>T (p.Cys576=) c.1293C>T (p.Cys431=) c.1578C>T (p.Cys526=) c.1737C>T (p.Cys579=) c.1605C>T (p.Cys535=) c.1767C>T (p.Cys589=) c.1254C>T (p.Cys418=) | |
| X | g.2934862G>C | CA412275092 | ARSL | c.1740C>G (p.Cys580Trp) c.1815C>G (p.Cys605Trp) c.1617C>G (p.Cys539Trp) c.1179C>G (p.Cys393Trp) n.1520C>G c.1728C>G (p.Cys576Trp) c.1293C>G (p.Cys431Trp) c.1578C>G (p.Cys526Trp) c.1737C>G (p.Cys579Trp) c.1605C>G (p.Cys535Trp) c.1767C>G (p.Cys589Trp) c.1254C>G (p.Cys418Trp) | |
| X | g.2934862G>T | CA412275093 | ARSL | c.1740C>A (p.Cys580Ter) c.1815C>A (p.Cys605Ter) c.1617C>A (p.Cys539Ter) c.1179C>A (p.Cys393Ter) n.1520C>A c.1728C>A (p.Cys576Ter) c.1293C>A (p.Cys431Ter) c.1578C>A (p.Cys526Ter) c.1737C>A (p.Cys579Ter) c.1605C>A (p.Cys535Ter) c.1767C>A (p.Cys589Ter) c.1254C>A (p.Cys418Ter) | gnomAD v4 |
| X | g.2934863C>A | CA412275094 | ARSL | c.1739G>T (p.Cys580Phe) c.1814G>T (p.Cys605Phe) c.1616G>T (p.Cys539Phe) c.1178G>T (p.Cys393Phe) n.1519G>T c.1727G>T (p.Cys576Phe) c.1292G>T (p.Cys431Phe) c.1577G>T (p.Cys526Phe) c.1736G>T (p.Cys579Phe) c.1604G>T (p.Cys535Phe) c.1766G>T (p.Cys589Phe) c.1253G>T (p.Cys418Phe) | |
| X | g.2934863C>G | CA412275095 | ARSL | c.1739G>C (p.Cys580Ser) c.1814G>C (p.Cys605Ser) c.1616G>C (p.Cys539Ser) c.1178G>C (p.Cys393Ser) n.1519G>C c.1727G>C (p.Cys576Ser) c.1292G>C (p.Cys431Ser) c.1577G>C (p.Cys526Ser) c.1736G>C (p.Cys579Ser) c.1604G>C (p.Cys535Ser) c.1766G>C (p.Cys589Ser) c.1253G>C (p.Cys418Ser) | |
| X | g.2934863C>T | CA412275096 | ARSL | c.1739G>A (p.Cys580Tyr) c.1814G>A (p.Cys605Tyr) c.1616G>A (p.Cys539Tyr) c.1178G>A (p.Cys393Tyr) n.1519G>A c.1727G>A (p.Cys576Tyr) c.1292G>A (p.Cys431Tyr) c.1577G>A (p.Cys526Tyr) c.1736G>A (p.Cys579Tyr) c.1604G>A (p.Cys535Tyr) c.1766G>A (p.Cys589Tyr) c.1253G>A (p.Cys418Tyr) | |
| X | g.2934864A>C | CA412275097 | ARSL | c.1738T>G (p.Cys580Gly) c.1813T>G (p.Cys605Gly) c.1615T>G (p.Cys539Gly) c.1177T>G (p.Cys393Gly) n.1518T>G c.1726T>G (p.Cys576Gly) c.1291T>G (p.Cys431Gly) c.1576T>G (p.Cys526Gly) c.1735T>G (p.Cys579Gly) c.1603T>G (p.Cys535Gly) c.1765T>G (p.Cys589Gly) c.1252T>G (p.Cys418Gly) | |
| X | g.2934864A>G | CA412275098 | ARSL | c.1738T>C (p.Cys580Arg) c.1813T>C (p.Cys605Arg) c.1615T>C (p.Cys539Arg) c.1177T>C (p.Cys393Arg) n.1518T>C c.1726T>C (p.Cys576Arg) c.1291T>C (p.Cys431Arg) c.1576T>C (p.Cys526Arg) c.1735T>C (p.Cys579Arg) c.1603T>C (p.Cys535Arg) c.1765T>C (p.Cys589Arg) c.1252T>C (p.Cys418Arg) | |
| X | g.2934864A>T | CA412275099 | ARSL | c.1738T>A (p.Cys580Ser) c.1813T>A (p.Cys605Ser) c.1615T>A (p.Cys539Ser) c.1177T>A (p.Cys393Ser) n.1518T>A c.1726T>A (p.Cys576Ser) c.1291T>A (p.Cys431Ser) c.1576T>A (p.Cys526Ser) c.1735T>A (p.Cys579Ser) c.1603T>A (p.Cys535Ser) c.1765T>A (p.Cys589Ser) c.1252T>A (p.Cys418Ser) | |
| X | g.2934865G>A | CA515396305 | ARSL | c.1737C>T (p.Leu579=) c.1812C>T (p.Leu604=) c.1614C>T (p.Leu538=) c.1176C>T (p.Leu392=) n.1517C>T c.1725C>T (p.Leu575=) c.1290C>T (p.Leu430=) c.1575C>T (p.Leu525=) c.1734C>T (p.Leu578=) c.1602C>T (p.Leu534=) c.1764C>T (p.Leu588=) c.1251C>T (p.Leu417=) | |
| X | g.2934865G>C | CA515396306 | ARSL | c.1737C>G (p.Leu579=) c.1812C>G (p.Leu604=) c.1614C>G (p.Leu538=) c.1176C>G (p.Leu392=) n.1517C>G c.1725C>G (p.Leu575=) c.1290C>G (p.Leu430=) c.1575C>G (p.Leu525=) c.1734C>G (p.Leu578=) c.1602C>G (p.Leu534=) c.1764C>G (p.Leu588=) c.1251C>G (p.Leu417=) | |
| X | g.2934865G>T | CA515396307 | ARSL | c.1737C>A (p.Leu579=) c.1812C>A (p.Leu604=) c.1614C>A (p.Leu538=) c.1176C>A (p.Leu392=) n.1517C>A c.1725C>A (p.Leu575=) c.1290C>A (p.Leu430=) c.1575C>A (p.Leu525=) c.1734C>A (p.Leu578=) c.1602C>A (p.Leu534=) c.1764C>A (p.Leu588=) c.1251C>A (p.Leu417=) | |
| X | g.2934866A= | CA2412580497 | ARSL | c.1736T= (p.Leu579=) c.1811T= (p.Leu604=) c.1613T= (p.Leu538=) c.1175T= (p.Leu392=) n.1516T= c.1724T= (p.Leu575=) c.1289T= (p.Leu430=) c.1574T= (p.Leu525=) c.1733T= (p.Leu578=) c.1601T= (p.Leu534=) c.1763T= (p.Leu588=) c.1250T= (p.Leu417=) | |
| X | g.2934866A>C | CA412275100 | ARSL | c.1736T>G (p.Leu579Arg) c.1811T>G (p.Leu604Arg) c.1613T>G (p.Leu538Arg) c.1175T>G (p.Leu392Arg) n.1516T>G c.1724T>G (p.Leu575Arg) c.1289T>G (p.Leu430Arg) c.1574T>G (p.Leu525Arg) c.1733T>G (p.Leu578Arg) c.1601T>G (p.Leu534Arg) c.1763T>G (p.Leu588Arg) c.1250T>G (p.Leu417Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.2934866A>G | CA412275101 | ARSL | c.1736T>C (p.Leu579Pro) c.1811T>C (p.Leu604Pro) c.1613T>C (p.Leu538Pro) c.1175T>C (p.Leu392Pro) n.1516T>C c.1724T>C (p.Leu575Pro) c.1289T>C (p.Leu430Pro) c.1574T>C (p.Leu525Pro) c.1733T>C (p.Leu578Pro) c.1601T>C (p.Leu534Pro) c.1763T>C (p.Leu588Pro) c.1250T>C (p.Leu417Pro) | gnomAD v4 |
| X | g.2934866A>T | CA412275102 | ARSL | c.1736T>A (p.Leu579His) c.1811T>A (p.Leu604His) c.1613T>A (p.Leu538His) c.1175T>A (p.Leu392His) n.1516T>A c.1724T>A (p.Leu575His) c.1289T>A (p.Leu430His) c.1574T>A (p.Leu525His) c.1733T>A (p.Leu578His) c.1601T>A (p.Leu534His) c.1763T>A (p.Leu588His) c.1250T>A (p.Leu417His) | |
| X | g.2934867G>A | CA412275103 | ARSL | c.1735C>T (p.Leu579Phe) c.1810C>T (p.Leu604Phe) c.1612C>T (p.Leu538Phe) c.1174C>T (p.Leu392Phe) n.1515C>T c.1723C>T (p.Leu575Phe) c.1288C>T (p.Leu430Phe) c.1573C>T (p.Leu525Phe) c.1732C>T (p.Leu578Phe) c.1600C>T (p.Leu534Phe) c.1762C>T (p.Leu588Phe) c.1249C>T (p.Leu417Phe) | |
| X | g.2934867G>C | CA10337969 | ARSL | c.1735C>G (p.Leu579Val) c.1810C>G (p.Leu604Val) c.1612C>G (p.Leu538Val) c.1174C>G (p.Leu392Val) n.1515C>G c.1723C>G (p.Leu575Val) c.1288C>G (p.Leu430Val) c.1573C>G (p.Leu525Val) c.1732C>G (p.Leu578Val) c.1600C>G (p.Leu534Val) c.1762C>G (p.Leu588Val) c.1249C>G (p.Leu417Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.2934867G= | CA2412580498 | ARSL | c.1735C= (p.Leu579=) c.1810C= (p.Leu604=) c.1612C= (p.Leu538=) c.1174C= (p.Leu392=) n.1515C= c.1723C= (p.Leu575=) c.1288C= (p.Leu430=) c.1573C= (p.Leu525=) c.1732C= (p.Leu578=) c.1600C= (p.Leu534=) c.1762C= (p.Leu588=) c.1249C= (p.Leu417=) | |
| X | g.2934867G>T | CA412275104 | ARSL | c.1735C>A (p.Leu579Ile) c.1810C>A (p.Leu604Ile) c.1612C>A (p.Leu538Ile) c.1174C>A (p.Leu392Ile) n.1515C>A c.1723C>A (p.Leu575Ile) c.1288C>A (p.Leu430Ile) c.1573C>A (p.Leu525Ile) c.1732C>A (p.Leu578Ile) c.1600C>A (p.Leu534Ile) c.1762C>A (p.Leu588Ile) c.1249C>A (p.Leu417Ile) | |
| X | g.2934868G>A | CA515396315 | ARSL | c.1734C>T (p.Pro578=) c.1809C>T (p.Pro603=) c.1611C>T (p.Pro537=) c.1173C>T (p.Pro391=) n.1514C>T c.1722C>T (p.Pro574=) c.1287C>T (p.Pro429=) c.1572C>T (p.Pro524=) c.1731C>T (p.Pro577=) c.1599C>T (p.Pro533=) c.1761C>T (p.Pro587=) c.1248C>T (p.Pro416=) | |
| X | g.2934868G>C | CA515396316 | ARSL | c.1734C>G (p.Pro578=) c.1809C>G (p.Pro603=) c.1611C>G (p.Pro537=) c.1173C>G (p.Pro391=) n.1514C>G c.1722C>G (p.Pro574=) c.1287C>G (p.Pro429=) c.1572C>G (p.Pro524=) c.1731C>G (p.Pro577=) c.1599C>G (p.Pro533=) c.1761C>G (p.Pro587=) c.1248C>G (p.Pro416=) | |
| X | g.2934868G>T | CA515396317 | ARSL | c.1734C>A (p.Pro578=) c.1809C>A (p.Pro603=) c.1611C>A (p.Pro537=) c.1173C>A (p.Pro391=) n.1514C>A c.1722C>A (p.Pro574=) c.1287C>A (p.Pro429=) c.1572C>A (p.Pro524=) c.1731C>A (p.Pro577=) c.1599C>A (p.Pro533=) c.1761C>A (p.Pro587=) c.1248C>A (p.Pro416=) | |
| X | g.2934869G>A | CA412275107 | ARSL | c.1733C>T (p.Pro578Leu) c.1808C>T (p.Pro603Leu) c.1610C>T (p.Pro537Leu) c.1172C>T (p.Pro391Leu) n.1513C>T c.1721C>T (p.Pro574Leu) c.1286C>T (p.Pro429Leu) c.1571C>T (p.Pro524Leu) c.1730C>T (p.Pro577Leu) c.1598C>T (p.Pro533Leu) c.1760C>T (p.Pro587Leu) c.1247C>T (p.Pro416Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.2934869G>C | CA412275106 | ARSL | c.1733C>G (p.Pro578Arg) c.1808C>G (p.Pro603Arg) c.1610C>G (p.Pro537Arg) c.1172C>G (p.Pro391Arg) n.1513C>G c.1721C>G (p.Pro574Arg) c.1286C>G (p.Pro429Arg) c.1571C>G (p.Pro524Arg) c.1730C>G (p.Pro577Arg) c.1598C>G (p.Pro533Arg) c.1760C>G (p.Pro587Arg) c.1247C>G (p.Pro416Arg) | |
| X | g.2934869G= | CA2412580499 | ARSL | c.1733C= (p.Pro578=) c.1808C= (p.Pro603=) c.1610C= (p.Pro537=) c.1172C= (p.Pro391=) n.1513C= c.1721C= (p.Pro574=) c.1286C= (p.Pro429=) c.1571C= (p.Pro524=) c.1730C= (p.Pro577=) c.1598C= (p.Pro533=) c.1760C= (p.Pro587=) c.1247C= (p.Pro416=) | |
| X | g.2934869G>T | CA412275105 | ARSL | c.1733C>A (p.Pro578His) c.1808C>A (p.Pro603His) c.1610C>A (p.Pro537His) c.1172C>A (p.Pro391His) n.1513C>A c.1721C>A (p.Pro574His) c.1286C>A (p.Pro429His) c.1571C>A (p.Pro524His) c.1730C>A (p.Pro577His) c.1598C>A (p.Pro533His) c.1760C>A (p.Pro587His) c.1247C>A (p.Pro416His) | |
| X | g.2934870G>A | CA341096 | ARSL | c.1732C>T (p.Pro578Ser) c.1807C>T (p.Pro603Ser) c.1609C>T (p.Pro537Ser) c.1171C>T (p.Pro391Ser) n.1512C>T c.1720C>T (p.Pro574Ser) c.1285C>T (p.Pro429Ser) c.1570C>T (p.Pro524Ser) c.1729C>T (p.Pro577Ser) c.1597C>T (p.Pro533Ser) c.1759C>T (p.Pro587Ser) c.1246C>T (p.Pro416Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.2934870G>C | CA412275109 | ARSL | c.1732C>G (p.Pro578Ala) c.1807C>G (p.Pro603Ala) c.1609C>G (p.Pro537Ala) c.1171C>G (p.Pro391Ala) n.1512C>G c.1720C>G (p.Pro574Ala) c.1285C>G (p.Pro429Ala) c.1570C>G (p.Pro524Ala) c.1729C>G (p.Pro577Ala) c.1597C>G (p.Pro533Ala) c.1759C>G (p.Pro587Ala) c.1246C>G (p.Pro416Ala) | |
| X | g.2934870G= | CA2412580500 | ARSL | c.1732C= (p.Pro578=) c.1807C= (p.Pro603=) c.1609C= (p.Pro537=) c.1171C= (p.Pro391=) n.1512C= c.1720C= (p.Pro574=) c.1285C= (p.Pro429=) c.1570C= (p.Pro524=) c.1729C= (p.Pro577=) c.1597C= (p.Pro533=) c.1759C= (p.Pro587=) c.1246C= (p.Pro416=) | |
| X | g.2934870G>T | CA412275108 | ARSL | c.1732C>A (p.Pro578Thr) c.1807C>A (p.Pro603Thr) c.1609C>A (p.Pro537Thr) c.1171C>A (p.Pro391Thr) n.1512C>A c.1720C>A (p.Pro574Thr) c.1285C>A (p.Pro429Thr) c.1570C>A (p.Pro524Thr) c.1729C>A (p.Pro577Thr) c.1597C>A (p.Pro533Thr) c.1759C>A (p.Pro587Thr) c.1246C>A (p.Pro416Thr) | |
| X | g.2934871G>A | CA515396318 | ARSL | c.1731C>T (p.Phe577=) c.1806C>T (p.Phe602=) c.1608C>T (p.Phe536=) c.1170C>T (p.Phe390=) n.1511C>T c.1719C>T (p.Phe573=) c.1284C>T (p.Phe428=) c.1569C>T (p.Phe523=) c.1728C>T (p.Phe576=) c.1596C>T (p.Phe532=) c.1758C>T (p.Phe586=) c.1245C>T (p.Phe415=) | gnomAD v4 |
| X | g.2934871G>C | CA412275110 | ARSL | c.1731C>G (p.Phe577Leu) c.1806C>G (p.Phe602Leu) c.1608C>G (p.Phe536Leu) c.1170C>G (p.Phe390Leu) n.1511C>G c.1719C>G (p.Phe573Leu) c.1284C>G (p.Phe428Leu) c.1569C>G (p.Phe523Leu) c.1728C>G (p.Phe576Leu) c.1596C>G (p.Phe532Leu) c.1758C>G (p.Phe586Leu) c.1245C>G (p.Phe415Leu) | |
| X | g.2934871G>T | CA412275111 | ARSL | c.1731C>A (p.Phe577Leu) c.1806C>A (p.Phe602Leu) c.1608C>A (p.Phe536Leu) c.1170C>A (p.Phe390Leu) n.1511C>A c.1719C>A (p.Phe573Leu) c.1284C>A (p.Phe428Leu) c.1569C>A (p.Phe523Leu) c.1728C>A (p.Phe576Leu) c.1596C>A (p.Phe532Leu) c.1758C>A (p.Phe586Leu) c.1245C>A (p.Phe415Leu) | gnomAD v4 |
| X | g.2934872A>C | CA412275112 | ARSL | c.1730T>G (p.Phe577Cys) c.1805T>G (p.Phe602Cys) c.1607T>G (p.Phe536Cys) c.1169T>G (p.Phe390Cys) n.1510T>G c.1718T>G (p.Phe573Cys) c.1283T>G (p.Phe428Cys) c.1568T>G (p.Phe523Cys) c.1727T>G (p.Phe576Cys) c.1595T>G (p.Phe532Cys) c.1757T>G (p.Phe586Cys) c.1244T>G (p.Phe415Cys) | |
| X | g.2934872A>G | CA412275113 | ARSL | c.1730T>C (p.Phe577Ser) c.1805T>C (p.Phe602Ser) c.1607T>C (p.Phe536Ser) c.1169T>C (p.Phe390Ser) n.1510T>C c.1718T>C (p.Phe573Ser) c.1283T>C (p.Phe428Ser) c.1568T>C (p.Phe523Ser) c.1727T>C (p.Phe576Ser) c.1595T>C (p.Phe532Ser) c.1757T>C (p.Phe586Ser) c.1244T>C (p.Phe415Ser) | |
| X | g.2934872A>T | CA412275114 | ARSL | c.1730T>A (p.Phe577Tyr) c.1805T>A (p.Phe602Tyr) c.1607T>A (p.Phe536Tyr) c.1169T>A (p.Phe390Tyr) n.1510T>A c.1718T>A (p.Phe573Tyr) c.1283T>A (p.Phe428Tyr) c.1568T>A (p.Phe523Tyr) c.1727T>A (p.Phe576Tyr) c.1595T>A (p.Phe532Tyr) c.1757T>A (p.Phe586Tyr) c.1244T>A (p.Phe415Tyr) | |
| X | g.2934873A>C | CA412275115 | ARSL | c.1729T>G (p.Phe577Val) c.1804T>G (p.Phe602Val) c.1606T>G (p.Phe536Val) c.1168T>G (p.Phe390Val) n.1509T>G c.1717T>G (p.Phe573Val) c.1282T>G (p.Phe428Val) c.1567T>G (p.Phe523Val) c.1726T>G (p.Phe576Val) c.1594T>G (p.Phe532Val) c.1756T>G (p.Phe586Val) c.1243T>G (p.Phe415Val) |