Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
X | g.2934873A>G | CA412275116 | ARSL | c.1729T>C (p.Phe577Leu) c.1804T>C (p.Phe602Leu) c.1606T>C (p.Phe536Leu) c.1168T>C (p.Phe390Leu) n.1509T>C c.1717T>C (p.Phe573Leu) c.1282T>C (p.Phe428Leu) c.1567T>C (p.Phe523Leu) c.1726T>C (p.Phe576Leu) c.1594T>C (p.Phe532Leu) c.1756T>C (p.Phe586Leu) c.1243T>C (p.Phe415Leu) | |
X | g.2934873A>T | CA412275117 | ARSL | c.1729T>A (p.Phe577Ile) c.1804T>A (p.Phe602Ile) c.1606T>A (p.Phe536Ile) c.1168T>A (p.Phe390Ile) n.1509T>A c.1717T>A (p.Phe573Ile) c.1282T>A (p.Phe428Ile) c.1567T>A (p.Phe523Ile) c.1726T>A (p.Phe576Ile) c.1594T>A (p.Phe532Ile) c.1756T>A (p.Phe586Ile) c.1243T>A (p.Phe415Ile) | |
X | g.2934874C>A | CA515396322 | ARSL | c.1728G>T (p.Pro576=) c.1803G>T (p.Pro601=) c.1605G>T (p.Pro535=) c.1167G>T (p.Pro389=) n.1508G>T c.1716G>T (p.Pro572=) c.1281G>T (p.Pro427=) c.1566G>T (p.Pro522=) c.1725G>T (p.Pro575=) c.1593G>T (p.Pro531=) c.1755G>T (p.Pro585=) c.1242G>T (p.Pro414=) | gnomAD v4 |
X | g.2934874C= | CA2412580501 | ARSL | c.1728G= (p.Pro576=) c.1803G= (p.Pro601=) c.1605G= (p.Pro535=) c.1167G= (p.Pro389=) n.1508G= c.1716G= (p.Pro572=) c.1281G= (p.Pro427=) c.1566G= (p.Pro522=) c.1725G= (p.Pro575=) c.1593G= (p.Pro531=) c.1755G= (p.Pro585=) c.1242G= (p.Pro414=) | |
X | g.2934874C>G | CA515396325 | ARSL | c.1728G>C (p.Pro576=) c.1803G>C (p.Pro601=) c.1605G>C (p.Pro535=) c.1167G>C (p.Pro389=) n.1508G>C c.1716G>C (p.Pro572=) c.1281G>C (p.Pro427=) c.1566G>C (p.Pro522=) c.1725G>C (p.Pro575=) c.1593G>C (p.Pro531=) c.1755G>C (p.Pro585=) c.1242G>C (p.Pro414=) | |
X | g.2934874C>T | CA171126 | ARSL | c.1728G>A (p.Pro576=) c.1803G>A (p.Pro601=) c.1605G>A (p.Pro535=) c.1167G>A (p.Pro389=) n.1508G>A c.1716G>A (p.Pro572=) c.1281G>A (p.Pro427=) c.1566G>A (p.Pro522=) c.1725G>A (p.Pro575=) c.1593G>A (p.Pro531=) c.1755G>A (p.Pro585=) c.1242G>A (p.Pro414=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.2934875G>A | CA325999087 | ARSL | c.1727C>T (p.Pro576Leu) c.1802C>T (p.Pro601Leu) c.1604C>T (p.Pro535Leu) c.1166C>T (p.Pro389Leu) n.1507C>T c.1715C>T (p.Pro572Leu) c.1280C>T (p.Pro427Leu) c.1565C>T (p.Pro522Leu) c.1724C>T (p.Pro575Leu) c.1592C>T (p.Pro531Leu) c.1754C>T (p.Pro585Leu) c.1241C>T (p.Pro414Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.2934875G>C | CA412275118 | ARSL | c.1727C>G (p.Pro576Arg) c.1802C>G (p.Pro601Arg) c.1604C>G (p.Pro535Arg) c.1166C>G (p.Pro389Arg) n.1507C>G c.1715C>G (p.Pro572Arg) c.1280C>G (p.Pro427Arg) c.1565C>G (p.Pro522Arg) c.1724C>G (p.Pro575Arg) c.1592C>G (p.Pro531Arg) c.1754C>G (p.Pro585Arg) c.1241C>G (p.Pro414Arg) | |
X | g.2934875G= | CA2412580502 | ARSL | c.1727C= (p.Pro576=) c.1802C= (p.Pro601=) c.1604C= (p.Pro535=) c.1166C= (p.Pro389=) n.1507C= c.1715C= (p.Pro572=) c.1280C= (p.Pro427=) c.1565C= (p.Pro522=) c.1724C= (p.Pro575=) c.1592C= (p.Pro531=) c.1754C= (p.Pro585=) c.1241C= (p.Pro414=) | |
X | g.2934875G>T | CA412275119 | ARSL | c.1727C>A (p.Pro576Gln) c.1802C>A (p.Pro601Gln) c.1604C>A (p.Pro535Gln) c.1166C>A (p.Pro389Gln) n.1507C>A c.1715C>A (p.Pro572Gln) c.1280C>A (p.Pro427Gln) c.1565C>A (p.Pro522Gln) c.1724C>A (p.Pro575Gln) c.1592C>A (p.Pro531Gln) c.1754C>A (p.Pro585Gln) c.1241C>A (p.Pro414Gln) | gnomAD v4 |
X | g.2934876G>A | CA412275122 | ARSL | c.1726C>T (p.Pro576Ser) c.1801C>T (p.Pro601Ser) c.1603C>T (p.Pro535Ser) c.1165C>T (p.Pro389Ser) n.1506C>T c.1714C>T (p.Pro572Ser) c.1279C>T (p.Pro427Ser) c.1564C>T (p.Pro522Ser) c.1723C>T (p.Pro575Ser) c.1591C>T (p.Pro531Ser) c.1753C>T (p.Pro585Ser) c.1240C>T (p.Pro414Ser) | gnomAD v4 |
X | g.2934876G>C | CA412275120 | ARSL | c.1726C>G (p.Pro576Ala) c.1801C>G (p.Pro601Ala) c.1603C>G (p.Pro535Ala) c.1165C>G (p.Pro389Ala) n.1506C>G c.1714C>G (p.Pro572Ala) c.1279C>G (p.Pro427Ala) c.1564C>G (p.Pro522Ala) c.1723C>G (p.Pro575Ala) c.1591C>G (p.Pro531Ala) c.1753C>G (p.Pro585Ala) c.1240C>G (p.Pro414Ala) | |
X | g.2934876G>T | CA412275121 | ARSL | c.1726C>A (p.Pro576Thr) c.1801C>A (p.Pro601Thr) c.1603C>A (p.Pro535Thr) c.1165C>A (p.Pro389Thr) n.1506C>A c.1714C>A (p.Pro572Thr) c.1279C>A (p.Pro427Thr) c.1564C>A (p.Pro522Thr) c.1723C>A (p.Pro575Thr) c.1591C>A (p.Pro531Thr) c.1753C>A (p.Pro585Thr) c.1240C>A (p.Pro414Thr) | |
X | g.2934877G>A | CA515396326 | ARSL | c.1725C>T (p.Gly575=) c.1800C>T (p.Gly600=) c.1602C>T (p.Gly534=) c.1164C>T (p.Gly388=) n.1505C>T c.1713C>T (p.Gly571=) c.1278C>T (p.Gly426=) c.1563C>T (p.Gly521=) c.1722C>T (p.Gly574=) c.1590C>T (p.Gly530=) c.1752C>T (p.Gly584=) c.1239C>T (p.Gly413=) | |
X | g.2934877G>C | CA515396327 | ARSL | c.1725C>G (p.Gly575=) c.1800C>G (p.Gly600=) c.1602C>G (p.Gly534=) c.1164C>G (p.Gly388=) n.1505C>G c.1713C>G (p.Gly571=) c.1278C>G (p.Gly426=) c.1563C>G (p.Gly521=) c.1722C>G (p.Gly574=) c.1590C>G (p.Gly530=) c.1752C>G (p.Gly584=) c.1239C>G (p.Gly413=) | |
X | g.2934877G>T | CA515396328 | ARSL | c.1725C>A (p.Gly575=) c.1800C>A (p.Gly600=) c.1602C>A (p.Gly534=) c.1164C>A (p.Gly388=) n.1505C>A c.1713C>A (p.Gly571=) c.1278C>A (p.Gly426=) c.1563C>A (p.Gly521=) c.1722C>A (p.Gly574=) c.1590C>A (p.Gly530=) c.1752C>A (p.Gly584=) c.1239C>A (p.Gly413=) | |
X | g.2934878C>A | CA412275123 | ARSL | c.1724G>T (p.Gly575Val) c.1799G>T (p.Gly600Val) c.1601G>T (p.Gly534Val) c.1163G>T (p.Gly388Val) n.1504G>T c.1712G>T (p.Gly571Val) c.1277G>T (p.Gly426Val) c.1562G>T (p.Gly521Val) c.1721G>T (p.Gly574Val) c.1589G>T (p.Gly530Val) c.1751G>T (p.Gly584Val) c.1238G>T (p.Gly413Val) | gnomAD v4 |
X | g.2934878C>G | CA412275124 | ARSL | c.1724G>C (p.Gly575Ala) c.1799G>C (p.Gly600Ala) c.1601G>C (p.Gly534Ala) c.1163G>C (p.Gly388Ala) n.1504G>C c.1712G>C (p.Gly571Ala) c.1277G>C (p.Gly426Ala) c.1562G>C (p.Gly521Ala) c.1721G>C (p.Gly574Ala) c.1589G>C (p.Gly530Ala) c.1751G>C (p.Gly584Ala) c.1238G>C (p.Gly413Ala) | |
X | g.2934878C>T | CA412275125 | ARSL | c.1724G>A (p.Gly575Asp) c.1799G>A (p.Gly600Asp) c.1601G>A (p.Gly534Asp) c.1163G>A (p.Gly388Asp) n.1504G>A c.1712G>A (p.Gly571Asp) c.1277G>A (p.Gly426Asp) c.1562G>A (p.Gly521Asp) c.1721G>A (p.Gly574Asp) c.1589G>A (p.Gly530Asp) c.1751G>A (p.Gly584Asp) c.1238G>A (p.Gly413Asp) | |
X | g.2934879C>A | CA412275126 | ARSL | c.1723G>T (p.Gly575Cys) c.1798G>T (p.Gly600Cys) c.1600G>T (p.Gly534Cys) c.1162G>T (p.Gly388Cys) n.1503G>T c.1711G>T (p.Gly571Cys) c.1276G>T (p.Gly426Cys) c.1561G>T (p.Gly521Cys) c.1720G>T (p.Gly574Cys) c.1588G>T (p.Gly530Cys) c.1750G>T (p.Gly584Cys) c.1237G>T (p.Gly413Cys) | |
X | g.2934879C>G | CA412275127 | ARSL | c.1723G>C (p.Gly575Arg) c.1798G>C (p.Gly600Arg) c.1600G>C (p.Gly534Arg) c.1162G>C (p.Gly388Arg) n.1503G>C c.1711G>C (p.Gly571Arg) c.1276G>C (p.Gly426Arg) c.1561G>C (p.Gly521Arg) c.1720G>C (p.Gly574Arg) c.1588G>C (p.Gly530Arg) c.1750G>C (p.Gly584Arg) c.1237G>C (p.Gly413Arg) | |
X | g.2934879C>T | CA412275128 | ARSL | c.1723G>A (p.Gly575Ser) c.1798G>A (p.Gly600Ser) c.1600G>A (p.Gly534Ser) c.1162G>A (p.Gly388Ser) n.1503G>A c.1711G>A (p.Gly571Ser) c.1276G>A (p.Gly426Ser) c.1561G>A (p.Gly521Ser) c.1720G>A (p.Gly574Ser) c.1588G>A (p.Gly530Ser) c.1750G>A (p.Gly584Ser) c.1237G>A (p.Gly413Ser) | gnomAD v4 |
X | g.2934880A>C | CA412275129 | ARSL | c.1722T>G (p.Cys574Trp) c.1797T>G (p.Cys599Trp) c.1599T>G (p.Cys533Trp) c.1161T>G (p.Cys387Trp) n.1502T>G c.1710T>G (p.Cys570Trp) c.1275T>G (p.Cys425Trp) c.1560T>G (p.Cys520Trp) c.1719T>G (p.Cys573Trp) c.1587T>G (p.Cys529Trp) c.1749T>G (p.Cys583Trp) c.1236T>G (p.Cys412Trp) | |
X | g.2934880A>G | CA515396336 | ARSL | c.1722T>C (p.Cys574=) c.1797T>C (p.Cys599=) c.1599T>C (p.Cys533=) c.1161T>C (p.Cys387=) n.1502T>C c.1710T>C (p.Cys570=) c.1275T>C (p.Cys425=) c.1560T>C (p.Cys520=) c.1719T>C (p.Cys573=) c.1587T>C (p.Cys529=) c.1749T>C (p.Cys583=) c.1236T>C (p.Cys412=) | |
X | g.2934880A>T | CA412275130 | ARSL | c.1722T>A (p.Cys574Ter) c.1797T>A (p.Cys599Ter) c.1599T>A (p.Cys533Ter) c.1161T>A (p.Cys387Ter) n.1502T>A c.1710T>A (p.Cys570Ter) c.1275T>A (p.Cys425Ter) c.1560T>A (p.Cys520Ter) c.1719T>A (p.Cys573Ter) c.1587T>A (p.Cys529Ter) c.1749T>A (p.Cys583Ter) c.1236T>A (p.Cys412Ter) | |
X | g.2934881C>A | CA412275131 | ARSL | c.1721G>T (p.Cys574Phe) c.1796G>T (p.Cys599Phe) c.1598G>T (p.Cys533Phe) c.1160G>T (p.Cys387Phe) n.1501G>T c.1709G>T (p.Cys570Phe) c.1274G>T (p.Cys425Phe) c.1559G>T (p.Cys520Phe) c.1718G>T (p.Cys573Phe) c.1586G>T (p.Cys529Phe) c.1748G>T (p.Cys583Phe) c.1235G>T (p.Cys412Phe) | |
X | g.2934881C>G | CA412275132 | ARSL | c.1721G>C (p.Cys574Ser) c.1796G>C (p.Cys599Ser) c.1598G>C (p.Cys533Ser) c.1160G>C (p.Cys387Ser) n.1501G>C c.1709G>C (p.Cys570Ser) c.1274G>C (p.Cys425Ser) c.1559G>C (p.Cys520Ser) c.1718G>C (p.Cys573Ser) c.1586G>C (p.Cys529Ser) c.1748G>C (p.Cys583Ser) c.1235G>C (p.Cys412Ser) | |
X | g.2934881C>T | CA412275133 | ARSL | c.1721G>A (p.Cys574Tyr) c.1796G>A (p.Cys599Tyr) c.1598G>A (p.Cys533Tyr) c.1160G>A (p.Cys387Tyr) n.1501G>A c.1709G>A (p.Cys570Tyr) c.1274G>A (p.Cys425Tyr) c.1559G>A (p.Cys520Tyr) c.1718G>A (p.Cys573Tyr) c.1586G>A (p.Cys529Tyr) c.1748G>A (p.Cys583Tyr) c.1235G>A (p.Cys412Tyr) | |
X | g.2934882A>C | CA412275135 | ARSL | c.1720T>G (p.Cys574Gly) c.1795T>G (p.Cys599Gly) c.1597T>G (p.Cys533Gly) c.1159T>G (p.Cys387Gly) n.1500T>G c.1708T>G (p.Cys570Gly) c.1273T>G (p.Cys425Gly) c.1558T>G (p.Cys520Gly) c.1717T>G (p.Cys573Gly) c.1585T>G (p.Cys529Gly) c.1747T>G (p.Cys583Gly) c.1234T>G (p.Cys412Gly) | |
X | g.2934882A>G | CA412275136 | ARSL | c.1720T>C (p.Cys574Arg) c.1795T>C (p.Cys599Arg) c.1597T>C (p.Cys533Arg) c.1159T>C (p.Cys387Arg) n.1500T>C c.1708T>C (p.Cys570Arg) c.1273T>C (p.Cys425Arg) c.1558T>C (p.Cys520Arg) c.1717T>C (p.Cys573Arg) c.1585T>C (p.Cys529Arg) c.1747T>C (p.Cys583Arg) c.1234T>C (p.Cys412Arg) | |
X | g.2934882A>T | CA412275134 | ARSL | c.1720T>A (p.Cys574Ser) c.1795T>A (p.Cys599Ser) c.1597T>A (p.Cys533Ser) c.1159T>A (p.Cys387Ser) n.1500T>A c.1708T>A (p.Cys570Ser) c.1273T>A (p.Cys425Ser) c.1558T>A (p.Cys520Ser) c.1717T>A (p.Cys573Ser) c.1585T>A (p.Cys529Ser) c.1747T>A (p.Cys583Ser) c.1234T>A (p.Cys412Ser) | |
X | g.2934883G>A | CA515396342 | ARSL | c.1719C>T (p.Cys573=) c.1794C>T (p.Cys598=) c.1596C>T (p.Cys532=) c.1158C>T (p.Cys386=) n.1499C>T c.1707C>T (p.Cys569=) c.1272C>T (p.Cys424=) c.1557C>T (p.Cys519=) c.1716C>T (p.Cys572=) c.1584C>T (p.Cys528=) c.1746C>T (p.Cys582=) c.1233C>T (p.Cys411=) | gnomAD v4 |
X | g.2934883G>C | CA412275137 | ARSL | c.1719C>G (p.Cys573Trp) c.1794C>G (p.Cys598Trp) c.1596C>G (p.Cys532Trp) c.1158C>G (p.Cys386Trp) n.1499C>G c.1707C>G (p.Cys569Trp) c.1272C>G (p.Cys424Trp) c.1557C>G (p.Cys519Trp) c.1716C>G (p.Cys572Trp) c.1584C>G (p.Cys528Trp) c.1746C>G (p.Cys582Trp) c.1233C>G (p.Cys411Trp) | |
X | g.2934883G>T | CA412275138 | ARSL | c.1719C>A (p.Cys573Ter) c.1794C>A (p.Cys598Ter) c.1596C>A (p.Cys532Ter) c.1158C>A (p.Cys386Ter) n.1499C>A c.1707C>A (p.Cys569Ter) c.1272C>A (p.Cys424Ter) c.1557C>A (p.Cys519Ter) c.1716C>A (p.Cys572Ter) c.1584C>A (p.Cys528Ter) c.1746C>A (p.Cys582Ter) c.1233C>A (p.Cys411Ter) | |
X | g.2934884C>A | CA412275139 | ARSL | c.1718G>T (p.Cys573Phe) c.1793G>T (p.Cys598Phe) c.1595G>T (p.Cys532Phe) c.1157G>T (p.Cys386Phe) n.1498G>T c.1706G>T (p.Cys569Phe) c.1271G>T (p.Cys424Phe) c.1556G>T (p.Cys519Phe) c.1715G>T (p.Cys572Phe) c.1583G>T (p.Cys528Phe) c.1745G>T (p.Cys582Phe) c.1232G>T (p.Cys411Phe) | gnomAD v4 |
X | g.2934884C>G | CA412275140 | ARSL | c.1718G>C (p.Cys573Ser) c.1793G>C (p.Cys598Ser) c.1595G>C (p.Cys532Ser) c.1157G>C (p.Cys386Ser) n.1498G>C c.1706G>C (p.Cys569Ser) c.1271G>C (p.Cys424Ser) c.1556G>C (p.Cys519Ser) c.1715G>C (p.Cys572Ser) c.1583G>C (p.Cys528Ser) c.1745G>C (p.Cys582Ser) c.1232G>C (p.Cys411Ser) | |
X | g.2934884C>T | CA412275141 | ARSL | c.1718G>A (p.Cys573Tyr) c.1793G>A (p.Cys598Tyr) c.1595G>A (p.Cys532Tyr) c.1157G>A (p.Cys386Tyr) n.1498G>A c.1706G>A (p.Cys569Tyr) c.1271G>A (p.Cys424Tyr) c.1556G>A (p.Cys519Tyr) c.1715G>A (p.Cys572Tyr) c.1583G>A (p.Cys528Tyr) c.1745G>A (p.Cys582Tyr) c.1232G>A (p.Cys411Tyr) | gnomAD v4 |
X | g.2934885A>C | CA412275142 | ARSL | c.1717T>G (p.Cys573Gly) c.1792T>G (p.Cys598Gly) c.1594T>G (p.Cys532Gly) c.1156T>G (p.Cys386Gly) n.1497T>G c.1705T>G (p.Cys569Gly) c.1270T>G (p.Cys424Gly) c.1555T>G (p.Cys519Gly) c.1714T>G (p.Cys572Gly) c.1582T>G (p.Cys528Gly) c.1744T>G (p.Cys582Gly) c.1231T>G (p.Cys411Gly) | |
X | g.2934885A>G | CA412275143 | ARSL | c.1717T>C (p.Cys573Arg) c.1792T>C (p.Cys598Arg) c.1594T>C (p.Cys532Arg) c.1156T>C (p.Cys386Arg) n.1497T>C c.1705T>C (p.Cys569Arg) c.1270T>C (p.Cys424Arg) c.1555T>C (p.Cys519Arg) c.1714T>C (p.Cys572Arg) c.1582T>C (p.Cys528Arg) c.1744T>C (p.Cys582Arg) c.1231T>C (p.Cys411Arg) | |
X | g.2934885A>T | CA412275144 | ARSL | c.1717T>A (p.Cys573Ser) c.1792T>A (p.Cys598Ser) c.1594T>A (p.Cys532Ser) c.1156T>A (p.Cys386Ser) n.1497T>A c.1705T>A (p.Cys569Ser) c.1270T>A (p.Cys424Ser) c.1555T>A (p.Cys519Ser) c.1714T>A (p.Cys572Ser) c.1582T>A (p.Cys528Ser) c.1744T>A (p.Cys582Ser) c.1231T>A (p.Cys411Ser) | |
X | g.2934886G>A | CA515396347 | ARSL | c.1716C>T (p.Pro572=) c.1791C>T (p.Pro597=) c.1593C>T (p.Pro531=) c.1155C>T (p.Pro385=) n.1496C>T c.1704C>T (p.Pro568=) c.1269C>T (p.Pro423=) c.1554C>T (p.Pro518=) c.1713C>T (p.Pro571=) c.1581C>T (p.Pro527=) c.1743C>T (p.Pro581=) c.1230C>T (p.Pro410=) | dbSNP gnomAD v4 |
X | g.2934886G>C | CA515396348 | ARSL | c.1716C>G (p.Pro572=) c.1791C>G (p.Pro597=) c.1593C>G (p.Pro531=) c.1155C>G (p.Pro385=) n.1496C>G c.1704C>G (p.Pro568=) c.1269C>G (p.Pro423=) c.1554C>G (p.Pro518=) c.1713C>G (p.Pro571=) c.1581C>G (p.Pro527=) c.1743C>G (p.Pro581=) c.1230C>G (p.Pro410=) | |
X | g.2934886G= | CA2412580503 | ARSL | c.1716C= (p.Pro572=) c.1791C= (p.Pro597=) c.1593C= (p.Pro531=) c.1155C= (p.Pro385=) n.1496C= c.1704C= (p.Pro568=) c.1269C= (p.Pro423=) c.1554C= (p.Pro518=) c.1713C= (p.Pro571=) c.1581C= (p.Pro527=) c.1743C= (p.Pro581=) c.1230C= (p.Pro410=) | |
X | g.2934886G>T | CA515396353 | ARSL | c.1716C>A (p.Pro572=) c.1791C>A (p.Pro597=) c.1593C>A (p.Pro531=) c.1155C>A (p.Pro385=) n.1496C>A c.1704C>A (p.Pro568=) c.1269C>A (p.Pro423=) c.1554C>A (p.Pro518=) c.1713C>A (p.Pro571=) c.1581C>A (p.Pro527=) c.1743C>A (p.Pro581=) c.1230C>A (p.Pro410=) | |
X | g.2934887G>A | CA412275145 | ARSL | c.1715C>T (p.Pro572Leu) c.1790C>T (p.Pro597Leu) c.1592C>T (p.Pro531Leu) c.1154C>T (p.Pro385Leu) n.1495C>T c.1703C>T (p.Pro568Leu) c.1268C>T (p.Pro423Leu) c.1553C>T (p.Pro518Leu) c.1712C>T (p.Pro571Leu) c.1580C>T (p.Pro527Leu) c.1742C>T (p.Pro581Leu) c.1229C>T (p.Pro410Leu) | |
X | g.2934887G>C | CA412275146 | ARSL | c.1715C>G (p.Pro572Arg) c.1790C>G (p.Pro597Arg) c.1592C>G (p.Pro531Arg) c.1154C>G (p.Pro385Arg) n.1495C>G c.1703C>G (p.Pro568Arg) c.1268C>G (p.Pro423Arg) c.1553C>G (p.Pro518Arg) c.1712C>G (p.Pro571Arg) c.1580C>G (p.Pro527Arg) c.1742C>G (p.Pro581Arg) c.1229C>G (p.Pro410Arg) | |
X | g.2934887G>T | CA412275147 | ARSL | c.1715C>A (p.Pro572His) c.1790C>A (p.Pro597His) c.1592C>A (p.Pro531His) c.1154C>A (p.Pro385His) n.1495C>A c.1703C>A (p.Pro568His) c.1268C>A (p.Pro423His) c.1553C>A (p.Pro518His) c.1712C>A (p.Pro571His) c.1580C>A (p.Pro527His) c.1742C>A (p.Pro581His) c.1229C>A (p.Pro410His) | gnomAD v4 |
X | g.2934888G>A | CA412275148 | ARSL | c.1714C>T (p.Pro572Ser) c.1789C>T (p.Pro597Ser) c.1591C>T (p.Pro531Ser) c.1153C>T (p.Pro385Ser) n.1494C>T c.1702C>T (p.Pro568Ser) c.1267C>T (p.Pro423Ser) c.1552C>T (p.Pro518Ser) c.1711C>T (p.Pro571Ser) c.1579C>T (p.Pro527Ser) c.1741C>T (p.Pro581Ser) c.1228C>T (p.Pro410Ser) | |
X | g.2934888G>C | CA412275149 | ARSL | c.1714C>G (p.Pro572Ala) c.1789C>G (p.Pro597Ala) c.1591C>G (p.Pro531Ala) c.1153C>G (p.Pro385Ala) n.1494C>G c.1702C>G (p.Pro568Ala) c.1267C>G (p.Pro423Ala) c.1552C>G (p.Pro518Ala) c.1711C>G (p.Pro571Ala) c.1579C>G (p.Pro527Ala) c.1741C>G (p.Pro581Ala) c.1228C>G (p.Pro410Ala) | |
X | g.2934888G>T | CA412275150 | ARSL | c.1714C>A (p.Pro572Thr) c.1789C>A (p.Pro597Thr) c.1591C>A (p.Pro531Thr) c.1153C>A (p.Pro385Thr) n.1494C>A c.1702C>A (p.Pro568Thr) c.1267C>A (p.Pro423Thr) c.1552C>A (p.Pro518Thr) c.1711C>A (p.Pro571Thr) c.1579C>A (p.Pro527Thr) c.1741C>A (p.Pro581Thr) c.1228C>A (p.Pro410Thr) | |
X | g.2934889C>A | CA412275151 | ARSL | c.1713G>T (p.Gln571His) c.1788G>T (p.Gln596His) c.1590G>T (p.Gln530His) c.1152G>T (p.Gln384His) n.1493G>T c.1701G>T (p.Gln567His) c.1266G>T (p.Gln422His) c.1551G>T (p.Gln517His) c.1710G>T (p.Gln570His) c.1578G>T (p.Gln526His) c.1740G>T (p.Gln580His) c.1227G>T (p.Gln409His) | gnomAD v4 |
X | g.2934889C>G | CA412275152 | ARSL | c.1713G>C (p.Gln571His) c.1788G>C (p.Gln596His) c.1590G>C (p.Gln530His) c.1152G>C (p.Gln384His) n.1493G>C c.1701G>C (p.Gln567His) c.1266G>C (p.Gln422His) c.1551G>C (p.Gln517His) c.1710G>C (p.Gln570His) c.1578G>C (p.Gln526His) c.1740G>C (p.Gln580His) c.1227G>C (p.Gln409His) | |
X | g.2934889C>T | CA515396360 | ARSL | c.1713G>A (p.Gln571=) c.1788G>A (p.Gln596=) c.1590G>A (p.Gln530=) c.1152G>A (p.Gln384=) n.1493G>A c.1701G>A (p.Gln567=) c.1266G>A (p.Gln422=) c.1551G>A (p.Gln517=) c.1710G>A (p.Gln570=) c.1578G>A (p.Gln526=) c.1740G>A (p.Gln580=) c.1227G>A (p.Gln409=) | |
X | g.2934890T>A | CA412275153 | ARSL | c.1712A>T (p.Gln571Leu) c.1787A>T (p.Gln596Leu) c.1589A>T (p.Gln530Leu) c.1151A>T (p.Gln384Leu) n.1492A>T c.1700A>T (p.Gln567Leu) c.1265A>T (p.Gln422Leu) c.1550A>T (p.Gln517Leu) c.1709A>T (p.Gln570Leu) c.1577A>T (p.Gln526Leu) c.1739A>T (p.Gln580Leu) c.1226A>T (p.Gln409Leu) | |
X | g.2934890T>C | CA412275154 | ARSL | c.1712A>G (p.Gln571Arg) c.1787A>G (p.Gln596Arg) c.1589A>G (p.Gln530Arg) c.1151A>G (p.Gln384Arg) n.1492A>G c.1700A>G (p.Gln567Arg) c.1265A>G (p.Gln422Arg) c.1550A>G (p.Gln517Arg) c.1709A>G (p.Gln570Arg) c.1577A>G (p.Gln526Arg) c.1739A>G (p.Gln580Arg) c.1226A>G (p.Gln409Arg) | |
X | g.2934890T>G | CA412275155 | ARSL | c.1712A>C (p.Gln571Pro) c.1787A>C (p.Gln596Pro) c.1589A>C (p.Gln530Pro) c.1151A>C (p.Gln384Pro) n.1492A>C c.1700A>C (p.Gln567Pro) c.1265A>C (p.Gln422Pro) c.1550A>C (p.Gln517Pro) c.1709A>C (p.Gln570Pro) c.1577A>C (p.Gln526Pro) c.1739A>C (p.Gln580Pro) c.1226A>C (p.Gln409Pro) | |
X | g.2934891G>A | CA10603720 | ARSL | c.1711C>T (p.Gln571Ter) c.1786C>T (p.Gln596Ter) c.1588C>T (p.Gln530Ter) c.1150C>T (p.Gln384Ter) n.1491C>T c.1699C>T (p.Gln567Ter) c.1264C>T (p.Gln422Ter) c.1549C>T (p.Gln517Ter) c.1708C>T (p.Gln570Ter) c.1576C>T (p.Gln526Ter) c.1738C>T (p.Gln580Ter) c.1225C>T (p.Gln409Ter) | ClinVar dbSNP gnomAD v4 |
X | g.2934891G>C | CA412275156 | ARSL | c.1711C>G (p.Gln571Glu) c.1786C>G (p.Gln596Glu) c.1588C>G (p.Gln530Glu) c.1150C>G (p.Gln384Glu) n.1491C>G c.1699C>G (p.Gln567Glu) c.1264C>G (p.Gln422Glu) c.1549C>G (p.Gln517Glu) c.1708C>G (p.Gln570Glu) c.1576C>G (p.Gln526Glu) c.1738C>G (p.Gln580Glu) c.1225C>G (p.Gln409Glu) | gnomAD v4 |
X | g.2934891G= | CA2412580504 | ARSL | c.1711C= (p.Gln571=) c.1786C= (p.Gln596=) c.1588C= (p.Gln530=) c.1150C= (p.Gln384=) n.1491C= c.1699C= (p.Gln567=) c.1264C= (p.Gln422=) c.1549C= (p.Gln517=) c.1708C= (p.Gln570=) c.1576C= (p.Gln526=) c.1738C= (p.Gln580=) c.1225C= (p.Gln409=) | |
X | g.2934891G>T | CA412275157 | ARSL | c.1711C>A (p.Gln571Lys) c.1786C>A (p.Gln596Lys) c.1588C>A (p.Gln530Lys) c.1150C>A (p.Gln384Lys) n.1491C>A c.1699C>A (p.Gln567Lys) c.1264C>A (p.Gln422Lys) c.1549C>A (p.Gln517Lys) c.1708C>A (p.Gln570Lys) c.1576C>A (p.Gln526Lys) c.1738C>A (p.Gln580Lys) c.1225C>A (p.Gln409Lys) | |
X | g.2934892C>A | CA515396363 | ARSL | c.1710G>T (p.Leu570=) c.1785G>T (p.Leu595=) c.1587G>T (p.Leu529=) c.1149G>T (p.Leu383=) n.1490G>T c.1698G>T (p.Leu566=) c.1263G>T (p.Leu421=) c.1548G>T (p.Leu516=) c.1707G>T (p.Leu569=) c.1575G>T (p.Leu525=) c.1737G>T (p.Leu579=) c.1224G>T (p.Leu408=) | gnomAD v4 |
X | g.2934892C>G | CA515396364 | ARSL | c.1710G>C (p.Leu570=) c.1785G>C (p.Leu595=) c.1587G>C (p.Leu529=) c.1149G>C (p.Leu383=) n.1490G>C c.1698G>C (p.Leu566=) c.1263G>C (p.Leu421=) c.1548G>C (p.Leu516=) c.1707G>C (p.Leu569=) c.1575G>C (p.Leu525=) c.1737G>C (p.Leu579=) c.1224G>C (p.Leu408=) | |
X | g.2934892C>T | CA515396365 | ARSL | c.1710G>A (p.Leu570=) c.1785G>A (p.Leu595=) c.1587G>A (p.Leu529=) c.1149G>A (p.Leu383=) n.1490G>A c.1698G>A (p.Leu566=) c.1263G>A (p.Leu421=) c.1548G>A (p.Leu516=) c.1707G>A (p.Leu569=) c.1575G>A (p.Leu525=) c.1737G>A (p.Leu579=) c.1224G>A (p.Leu408=) | |
X | g.2934893A>C | CA412275158 | ARSL | c.1709T>G (p.Leu570Arg) c.1784T>G (p.Leu595Arg) c.1586T>G (p.Leu529Arg) c.1148T>G (p.Leu383Arg) n.1489T>G c.1697T>G (p.Leu566Arg) c.1262T>G (p.Leu421Arg) c.1547T>G (p.Leu516Arg) c.1706T>G (p.Leu569Arg) c.1574T>G (p.Leu525Arg) c.1736T>G (p.Leu579Arg) c.1223T>G (p.Leu408Arg) | |
X | g.2934893A>G | CA412275159 | ARSL | c.1709T>C (p.Leu570Pro) c.1784T>C (p.Leu595Pro) c.1586T>C (p.Leu529Pro) c.1148T>C (p.Leu383Pro) n.1489T>C c.1697T>C (p.Leu566Pro) c.1262T>C (p.Leu421Pro) c.1547T>C (p.Leu516Pro) c.1706T>C (p.Leu569Pro) c.1574T>C (p.Leu525Pro) c.1736T>C (p.Leu579Pro) c.1223T>C (p.Leu408Pro) | |
X | g.2934893A>T | CA412275160 | ARSL | c.1709T>A (p.Leu570Gln) c.1784T>A (p.Leu595Gln) c.1586T>A (p.Leu529Gln) c.1148T>A (p.Leu383Gln) n.1489T>A c.1697T>A (p.Leu566Gln) c.1262T>A (p.Leu421Gln) c.1547T>A (p.Leu516Gln) c.1706T>A (p.Leu569Gln) c.1574T>A (p.Leu525Gln) c.1736T>A (p.Leu579Gln) c.1223T>A (p.Leu408Gln) | |
X | g.2934894G>A | CA515396366 | ARSL | c.1708C>T (p.Leu570=) c.1783C>T (p.Leu595=) c.1585C>T (p.Leu529=) c.1147C>T (p.Leu383=) n.1488C>T c.1696C>T (p.Leu566=) c.1261C>T (p.Leu421=) c.1546C>T (p.Leu516=) c.1705C>T (p.Leu569=) c.1573C>T (p.Leu525=) c.1735C>T (p.Leu579=) c.1222C>T (p.Leu408=) | gnomAD v4 |
X | g.2934894G>C | CA412275161 | ARSL | c.1708C>G (p.Leu570Val) c.1783C>G (p.Leu595Val) c.1585C>G (p.Leu529Val) c.1147C>G (p.Leu383Val) n.1488C>G c.1696C>G (p.Leu566Val) c.1261C>G (p.Leu421Val) c.1546C>G (p.Leu516Val) c.1705C>G (p.Leu569Val) c.1573C>G (p.Leu525Val) c.1735C>G (p.Leu579Val) c.1222C>G (p.Leu408Val) | |
X | g.2934894G>T | CA412275162 | ARSL | c.1708C>A (p.Leu570Met) c.1783C>A (p.Leu595Met) c.1585C>A (p.Leu529Met) c.1147C>A (p.Leu383Met) n.1488C>A c.1696C>A (p.Leu566Met) c.1261C>A (p.Leu421Met) c.1546C>A (p.Leu516Met) c.1705C>A (p.Leu569Met) c.1573C>A (p.Leu525Met) c.1735C>A (p.Leu579Met) c.1222C>A (p.Leu408Met) | |
X | g.2934895C>A | CA412275163 | ARSL | c.1707G>T (p.Trp569Cys) c.1782G>T (p.Trp594Cys) c.1584G>T (p.Trp528Cys) c.1146G>T (p.Trp382Cys) n.1487G>T c.1695G>T (p.Trp565Cys) c.1260G>T (p.Trp420Cys) c.1545G>T (p.Trp515Cys) c.1704G>T (p.Trp568Cys) c.1572G>T (p.Trp524Cys) c.1734G>T (p.Trp578Cys) c.1221G>T (p.Trp407Cys) | |
X | g.2934895C>G | CA412275164 | ARSL | c.1707G>C (p.Trp569Cys) c.1782G>C (p.Trp594Cys) c.1584G>C (p.Trp528Cys) c.1146G>C (p.Trp382Cys) n.1487G>C c.1695G>C (p.Trp565Cys) c.1260G>C (p.Trp420Cys) c.1545G>C (p.Trp515Cys) c.1704G>C (p.Trp568Cys) c.1572G>C (p.Trp524Cys) c.1734G>C (p.Trp578Cys) c.1221G>C (p.Trp407Cys) | |
X | g.2934895C>T | CA412275165 | ARSL | c.1707G>A (p.Trp569Ter) c.1782G>A (p.Trp594Ter) c.1584G>A (p.Trp528Ter) c.1146G>A (p.Trp382Ter) n.1487G>A c.1695G>A (p.Trp565Ter) c.1260G>A (p.Trp420Ter) c.1545G>A (p.Trp515Ter) c.1704G>A (p.Trp568Ter) c.1572G>A (p.Trp524Ter) c.1734G>A (p.Trp578Ter) c.1221G>A (p.Trp407Ter) | gnomAD v4 |
X | g.2934896C>A | CA412275168 | ARSL | c.1706G>T (p.Trp569Leu) c.1781G>T (p.Trp594Leu) c.1583G>T (p.Trp528Leu) c.1145G>T (p.Trp382Leu) n.1486G>T c.1694G>T (p.Trp565Leu) c.1259G>T (p.Trp420Leu) c.1544G>T (p.Trp515Leu) c.1703G>T (p.Trp568Leu) c.1571G>T (p.Trp524Leu) c.1733G>T (p.Trp578Leu) c.1220G>T (p.Trp407Leu) | |
X | g.2934896C>G | CA412275167 | ARSL | c.1706G>C (p.Trp569Ser) c.1781G>C (p.Trp594Ser) c.1583G>C (p.Trp528Ser) c.1145G>C (p.Trp382Ser) n.1486G>C c.1694G>C (p.Trp565Ser) c.1259G>C (p.Trp420Ser) c.1544G>C (p.Trp515Ser) c.1703G>C (p.Trp568Ser) c.1571G>C (p.Trp524Ser) c.1733G>C (p.Trp578Ser) c.1220G>C (p.Trp407Ser) | |
X | g.2934896C>T | CA412275166 | ARSL | c.1706G>A (p.Trp569Ter) c.1781G>A (p.Trp594Ter) c.1583G>A (p.Trp528Ter) c.1145G>A (p.Trp382Ter) n.1486G>A c.1694G>A (p.Trp565Ter) c.1259G>A (p.Trp420Ter) c.1544G>A (p.Trp515Ter) c.1703G>A (p.Trp568Ter) c.1571G>A (p.Trp524Ter) c.1733G>A (p.Trp578Ter) c.1220G>A (p.Trp407Ter) | |
X | g.2934897A>C | CA412275170 | ARSL | c.1705T>G (p.Trp569Gly) c.1780T>G (p.Trp594Gly) c.1582T>G (p.Trp528Gly) c.1144T>G (p.Trp382Gly) n.1485T>G c.1693T>G (p.Trp565Gly) c.1258T>G (p.Trp420Gly) c.1543T>G (p.Trp515Gly) c.1702T>G (p.Trp568Gly) c.1570T>G (p.Trp524Gly) c.1732T>G (p.Trp578Gly) c.1219T>G (p.Trp407Gly) | |
X | g.2934897A>G | CA412275169 | ARSL | c.1705T>C (p.Trp569Arg) c.1780T>C (p.Trp594Arg) c.1582T>C (p.Trp528Arg) c.1144T>C (p.Trp382Arg) n.1485T>C c.1693T>C (p.Trp565Arg) c.1258T>C (p.Trp420Arg) c.1543T>C (p.Trp515Arg) c.1702T>C (p.Trp568Arg) c.1570T>C (p.Trp524Arg) c.1732T>C (p.Trp578Arg) c.1219T>C (p.Trp407Arg) | |
X | g.2934897A>T | CA412275171 | ARSL | c.1705T>A (p.Trp569Arg) c.1780T>A (p.Trp594Arg) c.1582T>A (p.Trp528Arg) c.1144T>A (p.Trp382Arg) n.1485T>A c.1693T>A (p.Trp565Arg) c.1258T>A (p.Trp420Arg) c.1543T>A (p.Trp515Arg) c.1702T>A (p.Trp568Arg) c.1570T>A (p.Trp524Arg) c.1732T>A (p.Trp578Arg) c.1219T>A (p.Trp407Arg) | |
X | g.2934898C>A | CA515396373 | ARSL | c.1704G>T (p.Pro568=) c.1779G>T (p.Pro593=) c.1581G>T (p.Pro527=) c.1143G>T (p.Pro381=) n.1484G>T c.1692G>T (p.Pro564=) c.1257G>T (p.Pro419=) c.1542G>T (p.Pro514=) c.1701G>T (p.Pro567=) c.1569G>T (p.Pro523=) c.1731G>T (p.Pro577=) c.1218G>T (p.Pro406=) | |
X | g.2934898C= | CA2412580505 | ARSL | c.1704G= (p.Pro568=) c.1779G= (p.Pro593=) c.1581G= (p.Pro527=) c.1143G= (p.Pro381=) n.1484G= c.1692G= (p.Pro564=) c.1257G= (p.Pro419=) c.1542G= (p.Pro514=) c.1701G= (p.Pro567=) c.1569G= (p.Pro523=) c.1731G= (p.Pro577=) c.1218G= (p.Pro406=) | |
X | g.2934898C>G | CA515396374 | ARSL | c.1704G>C (p.Pro568=) c.1779G>C (p.Pro593=) c.1581G>C (p.Pro527=) c.1143G>C (p.Pro381=) n.1484G>C c.1692G>C (p.Pro564=) c.1257G>C (p.Pro419=) c.1542G>C (p.Pro514=) c.1701G>C (p.Pro567=) c.1569G>C (p.Pro523=) c.1731G>C (p.Pro577=) c.1218G>C (p.Pro406=) | |
X | g.2934898C>T | CA10337970 | ARSL | c.1704G>A (p.Pro568=) c.1779G>A (p.Pro593=) c.1581G>A (p.Pro527=) c.1143G>A (p.Pro381=) n.1484G>A c.1692G>A (p.Pro564=) c.1257G>A (p.Pro419=) c.1542G>A (p.Pro514=) c.1701G>A (p.Pro567=) c.1569G>A (p.Pro523=) c.1731G>A (p.Pro577=) c.1218G>A (p.Pro406=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.2934899G>A | CA412275173 | ARSL | c.1703C>T (p.Pro568Leu) c.1778C>T (p.Pro593Leu) c.1580C>T (p.Pro527Leu) c.1142C>T (p.Pro381Leu) n.1483C>T c.1691C>T (p.Pro564Leu) c.1256C>T (p.Pro419Leu) c.1541C>T (p.Pro514Leu) c.1700C>T (p.Pro567Leu) c.1568C>T (p.Pro523Leu) c.1730C>T (p.Pro577Leu) c.1217C>T (p.Pro406Leu) | gnomAD v4 |
X | g.2934899G>C | CA412275172 | ARSL | c.1703C>G (p.Pro568Arg) c.1778C>G (p.Pro593Arg) c.1580C>G (p.Pro527Arg) c.1142C>G (p.Pro381Arg) n.1483C>G c.1691C>G (p.Pro564Arg) c.1256C>G (p.Pro419Arg) c.1541C>G (p.Pro514Arg) c.1700C>G (p.Pro567Arg) c.1568C>G (p.Pro523Arg) c.1730C>G (p.Pro577Arg) c.1217C>G (p.Pro406Arg) | |
X | g.2934899G>T | CA412275174 | ARSL | c.1703C>A (p.Pro568Gln) c.1778C>A (p.Pro593Gln) c.1580C>A (p.Pro527Gln) c.1142C>A (p.Pro381Gln) n.1483C>A c.1691C>A (p.Pro564Gln) c.1256C>A (p.Pro419Gln) c.1541C>A (p.Pro514Gln) c.1700C>A (p.Pro567Gln) c.1568C>A (p.Pro523Gln) c.1730C>A (p.Pro577Gln) c.1217C>A (p.Pro406Gln) | |
X | g.2934900G>A | CA412275175 | ARSL | c.1702C>T (p.Pro568Ser) c.1777C>T (p.Pro593Ser) c.1579C>T (p.Pro527Ser) c.1141C>T (p.Pro381Ser) n.1482C>T c.1690C>T (p.Pro564Ser) c.1255C>T (p.Pro419Ser) c.1540C>T (p.Pro514Ser) c.1699C>T (p.Pro567Ser) c.1567C>T (p.Pro523Ser) c.1729C>T (p.Pro577Ser) c.1216C>T (p.Pro406Ser) | gnomAD v4 |
X | g.2934900G>C | CA412275177 | ARSL | c.1702C>G (p.Pro568Ala) c.1777C>G (p.Pro593Ala) c.1579C>G (p.Pro527Ala) c.1141C>G (p.Pro381Ala) n.1482C>G c.1690C>G (p.Pro564Ala) c.1255C>G (p.Pro419Ala) c.1540C>G (p.Pro514Ala) c.1699C>G (p.Pro567Ala) c.1567C>G (p.Pro523Ala) c.1729C>G (p.Pro577Ala) c.1216C>G (p.Pro406Ala) | |
X | g.2934900G>T | CA412275176 | ARSL | c.1702C>A (p.Pro568Thr) c.1777C>A (p.Pro593Thr) c.1579C>A (p.Pro527Thr) c.1141C>A (p.Pro381Thr) n.1482C>A c.1690C>A (p.Pro564Thr) c.1255C>A (p.Pro419Thr) c.1540C>A (p.Pro514Thr) c.1699C>A (p.Pro567Thr) c.1567C>A (p.Pro523Thr) c.1729C>A (p.Pro577Thr) c.1216C>A (p.Pro406Thr) | |
X | g.2934901T>A | CA412275178 | ARSL | c.1701A>T (p.Arg567Ser) c.1776A>T (p.Arg592Ser) c.1578A>T (p.Arg526Ser) c.1140A>T (p.Arg380Ser) n.1481A>T c.1689A>T (p.Arg563Ser) c.1254A>T (p.Arg418Ser) c.1539A>T (p.Arg513Ser) c.1698A>T (p.Arg566Ser) c.1566A>T (p.Arg522Ser) c.1728A>T (p.Arg576Ser) c.1215A>T (p.Arg405Ser) | |
X | g.2934901T>C | CA515396379 | ARSL | c.1701A>G (p.Arg567=) c.1776A>G (p.Arg592=) c.1578A>G (p.Arg526=) c.1140A>G (p.Arg380=) n.1481A>G c.1689A>G (p.Arg563=) c.1254A>G (p.Arg418=) c.1539A>G (p.Arg513=) c.1698A>G (p.Arg566=) c.1566A>G (p.Arg522=) c.1728A>G (p.Arg576=) c.1215A>G (p.Arg405=) | |
X | g.2934901T>G | CA412275179 | ARSL | c.1701A>C (p.Arg567Ser) c.1776A>C (p.Arg592Ser) c.1578A>C (p.Arg526Ser) c.1140A>C (p.Arg380Ser) n.1481A>C c.1689A>C (p.Arg563Ser) c.1254A>C (p.Arg418Ser) c.1539A>C (p.Arg513Ser) c.1698A>C (p.Arg566Ser) c.1566A>C (p.Arg522Ser) c.1728A>C (p.Arg576Ser) c.1215A>C (p.Arg405Ser) | |
X | g.2934902C>A | CA412275180 | ARSL | c.1700G>T (p.Arg567Ile) c.1775G>T (p.Arg592Ile) c.1577G>T (p.Arg526Ile) c.1139G>T (p.Arg380Ile) n.1480G>T c.1688G>T (p.Arg563Ile) c.1253G>T (p.Arg418Ile) c.1538G>T (p.Arg513Ile) c.1697G>T (p.Arg566Ile) c.1565G>T (p.Arg522Ile) c.1727G>T (p.Arg576Ile) c.1214G>T (p.Arg405Ile) | gnomAD v4 |
X | g.2934902C= | CA2412580506 | ARSL | c.1700G= (p.Arg567=) c.1775G= (p.Arg592=) c.1577G= (p.Arg526=) c.1139G= (p.Arg380=) n.1480G= c.1688G= (p.Arg563=) c.1253G= (p.Arg418=) c.1538G= (p.Arg513=) c.1697G= (p.Arg566=) c.1565G= (p.Arg522=) c.1727G= (p.Arg576=) c.1214G= (p.Arg405=) | |
X | g.2934902C>G | CA412275181 | ARSL | c.1700G>C (p.Arg567Thr) c.1775G>C (p.Arg592Thr) c.1577G>C (p.Arg526Thr) c.1139G>C (p.Arg380Thr) n.1480G>C c.1688G>C (p.Arg563Thr) c.1253G>C (p.Arg418Thr) c.1538G>C (p.Arg513Thr) c.1697G>C (p.Arg566Thr) c.1565G>C (p.Arg522Thr) c.1727G>C (p.Arg576Thr) c.1214G>C (p.Arg405Thr) | |
X | g.2934902C>T | CA10337971 | ARSL | c.1700G>A (p.Arg567Lys) c.1775G>A (p.Arg592Lys) c.1577G>A (p.Arg526Lys) c.1139G>A (p.Arg380Lys) n.1480G>A c.1688G>A (p.Arg563Lys) c.1253G>A (p.Arg418Lys) c.1538G>A (p.Arg513Lys) c.1697G>A (p.Arg566Lys) c.1565G>A (p.Arg522Lys) c.1727G>A (p.Arg576Lys) c.1214G>A (p.Arg405Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.2934903T>A | CA412275182 | ARSL | c.1699A>T (p.Arg567Ter) c.1774A>T (p.Arg592Ter) c.1576A>T (p.Arg526Ter) c.1138A>T (p.Arg380Ter) n.1479A>T c.1687A>T (p.Arg563Ter) c.1252A>T (p.Arg418Ter) c.1537A>T (p.Arg513Ter) c.1696A>T (p.Arg566Ter) c.1564A>T (p.Arg522Ter) c.1726A>T (p.Arg576Ter) c.1213A>T (p.Arg405Ter) | |
X | g.2934903T>C | CA412275183 | ARSL | c.1699A>G (p.Arg567Gly) c.1774A>G (p.Arg592Gly) c.1576A>G (p.Arg526Gly) c.1138A>G (p.Arg380Gly) n.1479A>G c.1687A>G (p.Arg563Gly) c.1252A>G (p.Arg418Gly) c.1537A>G (p.Arg513Gly) c.1696A>G (p.Arg566Gly) c.1564A>G (p.Arg522Gly) c.1726A>G (p.Arg576Gly) c.1213A>G (p.Arg405Gly) | |
X | g.2934903T>G | CA515396382 | ARSL | c.1699A>C (p.Arg567=) c.1774A>C (p.Arg592=) c.1576A>C (p.Arg526=) c.1138A>C (p.Arg380=) n.1479A>C c.1687A>C (p.Arg563=) c.1252A>C (p.Arg418=) c.1537A>C (p.Arg513=) c.1696A>C (p.Arg566=) c.1564A>C (p.Arg522=) c.1726A>C (p.Arg576=) c.1213A>C (p.Arg405=) | |
X | g.2934904C>A | CA412275184 | ARSL | c.1698G>T (p.Trp566Cys) c.1773G>T (p.Trp591Cys) c.1575G>T (p.Trp525Cys) c.1137G>T (p.Trp379Cys) n.1478G>T c.1686G>T (p.Trp562Cys) c.1251G>T (p.Trp417Cys) c.1536G>T (p.Trp512Cys) c.1695G>T (p.Trp565Cys) c.1563G>T (p.Trp521Cys) c.1725G>T (p.Trp575Cys) c.1212G>T (p.Trp404Cys) | |
X | g.2934904C>G | CA412275185 | ARSL | c.1698G>C (p.Trp566Cys) c.1773G>C (p.Trp591Cys) c.1575G>C (p.Trp525Cys) c.1137G>C (p.Trp379Cys) n.1478G>C c.1686G>C (p.Trp562Cys) c.1251G>C (p.Trp417Cys) c.1536G>C (p.Trp512Cys) c.1695G>C (p.Trp565Cys) c.1563G>C (p.Trp521Cys) c.1725G>C (p.Trp575Cys) c.1212G>C (p.Trp404Cys) | |
X | g.2934904C>T | CA412275186 | ARSL | c.1698G>A (p.Trp566Ter) c.1773G>A (p.Trp591Ter) c.1575G>A (p.Trp525Ter) c.1137G>A (p.Trp379Ter) n.1478G>A c.1686G>A (p.Trp562Ter) c.1251G>A (p.Trp417Ter) c.1536G>A (p.Trp512Ter) c.1695G>A (p.Trp565Ter) c.1563G>A (p.Trp521Ter) c.1725G>A (p.Trp575Ter) c.1212G>A (p.Trp404Ter) | |
X | g.2934905C>A | CA412275187 | ARSL | c.1697G>T (p.Trp566Leu) c.1772G>T (p.Trp591Leu) c.1574G>T (p.Trp525Leu) c.1136G>T (p.Trp379Leu) n.1477G>T c.1685G>T (p.Trp562Leu) c.1250G>T (p.Trp417Leu) c.1535G>T (p.Trp512Leu) c.1694G>T (p.Trp565Leu) c.1562G>T (p.Trp521Leu) c.1724G>T (p.Trp575Leu) c.1211G>T (p.Trp404Leu) | |
X | g.2934905C>G | CA412275188 | ARSL | c.1697G>C (p.Trp566Ser) c.1772G>C (p.Trp591Ser) c.1574G>C (p.Trp525Ser) c.1136G>C (p.Trp379Ser) n.1477G>C c.1685G>C (p.Trp562Ser) c.1250G>C (p.Trp417Ser) c.1535G>C (p.Trp512Ser) c.1694G>C (p.Trp565Ser) c.1562G>C (p.Trp521Ser) c.1724G>C (p.Trp575Ser) c.1211G>C (p.Trp404Ser) | |
X | g.2934905C>T | CA412275189 | ARSL | c.1697G>A (p.Trp566Ter) c.1772G>A (p.Trp591Ter) c.1574G>A (p.Trp525Ter) c.1136G>A (p.Trp379Ter) n.1477G>A c.1685G>A (p.Trp562Ter) c.1250G>A (p.Trp417Ter) c.1535G>A (p.Trp512Ter) c.1694G>A (p.Trp565Ter) c.1562G>A (p.Trp521Ter) c.1724G>A (p.Trp575Ter) c.1211G>A (p.Trp404Ter) | |
X | g.2934906A>C | CA412275190 | ARSL | c.1696T>G (p.Trp566Gly) c.1771T>G (p.Trp591Gly) c.1573T>G (p.Trp525Gly) c.1135T>G (p.Trp379Gly) n.1476T>G c.1684T>G (p.Trp562Gly) c.1249T>G (p.Trp417Gly) c.1534T>G (p.Trp512Gly) c.1693T>G (p.Trp565Gly) c.1561T>G (p.Trp521Gly) c.1723T>G (p.Trp575Gly) c.1210T>G (p.Trp404Gly) | |
X | g.2934906A>G | CA412275192 | ARSL | c.1696T>C (p.Trp566Arg) c.1771T>C (p.Trp591Arg) c.1573T>C (p.Trp525Arg) c.1135T>C (p.Trp379Arg) n.1476T>C c.1684T>C (p.Trp562Arg) c.1249T>C (p.Trp417Arg) c.1534T>C (p.Trp512Arg) c.1693T>C (p.Trp565Arg) c.1561T>C (p.Trp521Arg) c.1723T>C (p.Trp575Arg) c.1210T>C (p.Trp404Arg) | |
X | g.2934906A>T | CA412275191 | ARSL | c.1696T>A (p.Trp566Arg) c.1771T>A (p.Trp591Arg) c.1573T>A (p.Trp525Arg) c.1135T>A (p.Trp379Arg) n.1476T>A c.1684T>A (p.Trp562Arg) c.1249T>A (p.Trp417Arg) c.1534T>A (p.Trp512Arg) c.1693T>A (p.Trp565Arg) c.1561T>A (p.Trp521Arg) c.1723T>A (p.Trp575Arg) c.1210T>A (p.Trp404Arg) | |
X | g.2934907G>A | CA515396388 | ARSL | c.1695C>T (p.Ile565=) c.1770C>T (p.Ile590=) c.1572C>T (p.Ile524=) c.1134C>T (p.Ile378=) n.1475C>T c.1683C>T (p.Ile561=) c.1248C>T (p.Ile416=) c.1533C>T (p.Ile511=) c.1692C>T (p.Ile564=) c.1560C>T (p.Ile520=) c.1722C>T (p.Ile574=) c.1209C>T (p.Ile403=) | |
X | g.2934907G>C | CA412275193 | ARSL | c.1695C>G (p.Ile565Met) c.1770C>G (p.Ile590Met) c.1572C>G (p.Ile524Met) c.1134C>G (p.Ile378Met) n.1475C>G c.1683C>G (p.Ile561Met) c.1248C>G (p.Ile416Met) c.1533C>G (p.Ile511Met) c.1692C>G (p.Ile564Met) c.1560C>G (p.Ile520Met) c.1722C>G (p.Ile574Met) c.1209C>G (p.Ile403Met) | |
X | g.2934907G>T | CA515396389 | ARSL | c.1695C>A (p.Ile565=) c.1770C>A (p.Ile590=) c.1572C>A (p.Ile524=) c.1134C>A (p.Ile378=) n.1475C>A c.1683C>A (p.Ile561=) c.1248C>A (p.Ile416=) c.1533C>A (p.Ile511=) c.1692C>A (p.Ile564=) c.1560C>A (p.Ile520=) c.1722C>A (p.Ile574=) c.1209C>A (p.Ile403=) | |
X | g.2934908A= | CA2412580507 | ARSL | c.1694T= (p.Ile565=) c.1769T= (p.Ile590=) c.1571T= (p.Ile524=) c.1133T= (p.Ile378=) n.1474T= c.1682T= (p.Ile561=) c.1247T= (p.Ile416=) c.1532T= (p.Ile511=) c.1691T= (p.Ile564=) c.1559T= (p.Ile520=) c.1721T= (p.Ile574=) c.1208T= (p.Ile403=) | |
X | g.2934908A>C | CA10337972 | ARSL | c.1694T>G (p.Ile565Ser) c.1769T>G (p.Ile590Ser) c.1571T>G (p.Ile524Ser) c.1133T>G (p.Ile378Ser) n.1474T>G c.1682T>G (p.Ile561Ser) c.1247T>G (p.Ile416Ser) c.1532T>G (p.Ile511Ser) c.1691T>G (p.Ile564Ser) c.1559T>G (p.Ile520Ser) c.1721T>G (p.Ile574Ser) c.1208T>G (p.Ile403Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.2934908A>G | CA412275194 | ARSL | c.1694T>C (p.Ile565Thr) c.1769T>C (p.Ile590Thr) c.1571T>C (p.Ile524Thr) c.1133T>C (p.Ile378Thr) n.1474T>C c.1682T>C (p.Ile561Thr) c.1247T>C (p.Ile416Thr) c.1532T>C (p.Ile511Thr) c.1691T>C (p.Ile564Thr) c.1559T>C (p.Ile520Thr) c.1721T>C (p.Ile574Thr) c.1208T>C (p.Ile403Thr) | |
X | g.2934908A>T | CA412275195 | ARSL | c.1694T>A (p.Ile565Asn) c.1769T>A (p.Ile590Asn) c.1571T>A (p.Ile524Asn) c.1133T>A (p.Ile378Asn) n.1474T>A c.1682T>A (p.Ile561Asn) c.1247T>A (p.Ile416Asn) c.1532T>A (p.Ile511Asn) c.1691T>A (p.Ile564Asn) c.1559T>A (p.Ile520Asn) c.1721T>A (p.Ile574Asn) c.1208T>A (p.Ile403Asn) | |
X | g.2934909T>A | CA412275196 | ARSL | c.1693A>T (p.Ile565Phe) c.1768A>T (p.Ile590Phe) c.1570A>T (p.Ile524Phe) c.1132A>T (p.Ile378Phe) n.1473A>T c.1681A>T (p.Ile561Phe) c.1246A>T (p.Ile416Phe) c.1531A>T (p.Ile511Phe) c.1690A>T (p.Ile564Phe) c.1558A>T (p.Ile520Phe) c.1720A>T (p.Ile574Phe) c.1207A>T (p.Ile403Phe) | |
X | g.2934909T>C | CA412275197 | ARSL | c.1693A>G (p.Ile565Val) c.1768A>G (p.Ile590Val) c.1570A>G (p.Ile524Val) c.1132A>G (p.Ile378Val) n.1473A>G c.1681A>G (p.Ile561Val) c.1246A>G (p.Ile416Val) c.1531A>G (p.Ile511Val) c.1690A>G (p.Ile564Val) c.1558A>G (p.Ile520Val) c.1720A>G (p.Ile574Val) c.1207A>G (p.Ile403Val) | |
X | g.2934909T>G | CA412275198 | ARSL | c.1693A>C (p.Ile565Leu) c.1768A>C (p.Ile590Leu) c.1570A>C (p.Ile524Leu) c.1132A>C (p.Ile378Leu) n.1473A>C c.1681A>C (p.Ile561Leu) c.1246A>C (p.Ile416Leu) c.1531A>C (p.Ile511Leu) c.1690A>C (p.Ile564Leu) c.1558A>C (p.Ile520Leu) c.1720A>C (p.Ile574Leu) c.1207A>C (p.Ile403Leu) | |
X | g.2934910G>A | CA171124 | ARSL | c.1692C>T (p.Asn564=) c.1767C>T (p.Asn589=) c.1569C>T (p.Asn523=) c.1131C>T (p.Asn377=) n.1472C>T c.1680C>T (p.Asn560=) c.1245C>T (p.Asn415=) c.1530C>T (p.Asn510=) c.1689C>T (p.Asn563=) c.1557C>T (p.Asn519=) c.1719C>T (p.Asn573=) c.1206C>T (p.Asn402=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.2934910G>C | CA412275199 | ARSL | c.1692C>G (p.Asn564Lys) c.1767C>G (p.Asn589Lys) c.1569C>G (p.Asn523Lys) c.1131C>G (p.Asn377Lys) n.1472C>G c.1680C>G (p.Asn560Lys) c.1245C>G (p.Asn415Lys) c.1530C>G (p.Asn510Lys) c.1689C>G (p.Asn563Lys) c.1557C>G (p.Asn519Lys) c.1719C>G (p.Asn573Lys) c.1206C>G (p.Asn402Lys) | dbSNP |
X | g.2934910G= | CA2412580508 | ARSL | c.1692C= (p.Asn564=) c.1767C= (p.Asn589=) c.1569C= (p.Asn523=) c.1131C= (p.Asn377=) n.1472C= c.1680C= (p.Asn560=) c.1245C= (p.Asn415=) c.1530C= (p.Asn510=) c.1689C= (p.Asn563=) c.1557C= (p.Asn519=) c.1719C= (p.Asn573=) c.1206C= (p.Asn402=) | |
X | g.2934910G>T | CA412275200 | ARSL | c.1692C>A (p.Asn564Lys) c.1767C>A (p.Asn589Lys) c.1569C>A (p.Asn523Lys) c.1131C>A (p.Asn377Lys) n.1472C>A c.1680C>A (p.Asn560Lys) c.1245C>A (p.Asn415Lys) c.1530C>A (p.Asn510Lys) c.1689C>A (p.Asn563Lys) c.1557C>A (p.Asn519Lys) c.1719C>A (p.Asn573Lys) c.1206C>A (p.Asn402Lys) | |
X | g.2934911T>A | CA412275203 | ARSL | c.1691A>T (p.Asn564Ile) c.1766A>T (p.Asn589Ile) c.1568A>T (p.Asn523Ile) c.1130A>T (p.Asn377Ile) n.1471A>T c.1679A>T (p.Asn560Ile) c.1244A>T (p.Asn415Ile) c.1529A>T (p.Asn510Ile) c.1688A>T (p.Asn563Ile) c.1556A>T (p.Asn519Ile) c.1718A>T (p.Asn573Ile) c.1205A>T (p.Asn402Ile) | |
X | g.2934911T>C | CA412275202 | ARSL | c.1691A>G (p.Asn564Ser) c.1766A>G (p.Asn589Ser) c.1568A>G (p.Asn523Ser) c.1130A>G (p.Asn377Ser) n.1471A>G c.1679A>G (p.Asn560Ser) c.1244A>G (p.Asn415Ser) c.1529A>G (p.Asn510Ser) c.1688A>G (p.Asn563Ser) c.1556A>G (p.Asn519Ser) c.1718A>G (p.Asn573Ser) c.1205A>G (p.Asn402Ser) | |
X | g.2934911T>G | CA412275201 | ARSL | c.1691A>C (p.Asn564Thr) c.1766A>C (p.Asn589Thr) c.1568A>C (p.Asn523Thr) c.1130A>C (p.Asn377Thr) n.1471A>C c.1679A>C (p.Asn560Thr) c.1244A>C (p.Asn415Thr) c.1529A>C (p.Asn510Thr) c.1688A>C (p.Asn563Thr) c.1556A>C (p.Asn519Thr) c.1718A>C (p.Asn573Thr) c.1205A>C (p.Asn402Thr) | |
X | g.2934912T>A | CA412275206 | ARSL | c.1690A>T (p.Asn564Tyr) c.1765A>T (p.Asn589Tyr) c.1567A>T (p.Asn523Tyr) c.1129A>T (p.Asn377Tyr) n.1470A>T c.1678A>T (p.Asn560Tyr) c.1243A>T (p.Asn415Tyr) c.1528A>T (p.Asn510Tyr) c.1687A>T (p.Asn563Tyr) c.1555A>T (p.Asn519Tyr) c.1717A>T (p.Asn573Tyr) c.1204A>T (p.Asn402Tyr) | |
X | g.2934912T>C | CA412275204 | ARSL | c.1690A>G (p.Asn564Asp) c.1765A>G (p.Asn589Asp) c.1567A>G (p.Asn523Asp) c.1129A>G (p.Asn377Asp) n.1470A>G c.1678A>G (p.Asn560Asp) c.1243A>G (p.Asn415Asp) c.1528A>G (p.Asn510Asp) c.1687A>G (p.Asn563Asp) c.1555A>G (p.Asn519Asp) c.1717A>G (p.Asn573Asp) c.1204A>G (p.Asn402Asp) | |
X | g.2934912T>G | CA412275205 | ARSL | c.1690A>C (p.Asn564His) c.1765A>C (p.Asn589His) c.1567A>C (p.Asn523His) c.1129A>C (p.Asn377His) n.1470A>C c.1678A>C (p.Asn560His) c.1243A>C (p.Asn415His) c.1528A>C (p.Asn510His) c.1687A>C (p.Asn563His) c.1555A>C (p.Asn519His) c.1717A>C (p.Asn573His) c.1204A>C (p.Asn402His) | |
X | g.2934913G>A | CA515396398 | ARSL | c.1689C>T (p.Gly563=) c.1764C>T (p.Gly588=) c.1566C>T (p.Gly522=) c.1128C>T (p.Gly376=) n.1469C>T c.1677C>T (p.Gly559=) c.1242C>T (p.Gly414=) c.1527C>T (p.Gly509=) c.1686C>T (p.Gly562=) c.1554C>T (p.Gly518=) c.1716C>T (p.Gly572=) c.1203C>T (p.Gly401=) | |
X | g.2934913G>C | CA515396400 | ARSL | c.1689C>G (p.Gly563=) c.1764C>G (p.Gly588=) c.1566C>G (p.Gly522=) c.1128C>G (p.Gly376=) n.1469C>G c.1677C>G (p.Gly559=) c.1242C>G (p.Gly414=) c.1527C>G (p.Gly509=) c.1686C>G (p.Gly562=) c.1554C>G (p.Gly518=) c.1716C>G (p.Gly572=) c.1203C>G (p.Gly401=) | gnomAD v4 |
X | g.2934913G>T | CA515396402 | ARSL | c.1689C>A (p.Gly563=) c.1764C>A (p.Gly588=) c.1566C>A (p.Gly522=) c.1128C>A (p.Gly376=) n.1469C>A c.1677C>A (p.Gly559=) c.1242C>A (p.Gly414=) c.1527C>A (p.Gly509=) c.1686C>A (p.Gly562=) c.1554C>A (p.Gly518=) c.1716C>A (p.Gly572=) c.1203C>A (p.Gly401=) | |
X | g.2934914C>A | CA412275207 | ARSL | c.1688G>T (p.Gly563Val) c.1763G>T (p.Gly588Val) c.1565G>T (p.Gly522Val) c.1127G>T (p.Gly376Val) n.1468G>T c.1676G>T (p.Gly559Val) c.1241G>T (p.Gly414Val) c.1526G>T (p.Gly509Val) c.1685G>T (p.Gly562Val) c.1553G>T (p.Gly518Val) c.1715G>T (p.Gly572Val) c.1202G>T (p.Gly401Val) | gnomAD v4 |
X | g.2934914C>G | CA412275208 | ARSL | c.1688G>C (p.Gly563Ala) c.1763G>C (p.Gly588Ala) c.1565G>C (p.Gly522Ala) c.1127G>C (p.Gly376Ala) n.1468G>C c.1676G>C (p.Gly559Ala) c.1241G>C (p.Gly414Ala) c.1526G>C (p.Gly509Ala) c.1685G>C (p.Gly562Ala) c.1553G>C (p.Gly518Ala) c.1715G>C (p.Gly572Ala) c.1202G>C (p.Gly401Ala) | |
X | g.2934914C>T | CA412275209 | ARSL | c.1688G>A (p.Gly563Asp) c.1763G>A (p.Gly588Asp) c.1565G>A (p.Gly522Asp) c.1127G>A (p.Gly376Asp) n.1468G>A c.1676G>A (p.Gly559Asp) c.1241G>A (p.Gly414Asp) c.1526G>A (p.Gly509Asp) c.1685G>A (p.Gly562Asp) c.1553G>A (p.Gly518Asp) c.1715G>A (p.Gly572Asp) c.1202G>A (p.Gly401Asp) | |
X | g.2934916dup | CA2843484306 | ARSL | c.1688dup (p.Asn564GlnfsTer21) c.1763dup (p.Asn589GlnfsTer21) c.1565dup (p.Asn523GlnfsTer21) c.1127dup (p.Asn377GlnfsTer21) n.1468dup c.1676dup (p.Asn560GlnfsTer21) c.1241dup (p.Asn415GlnfsTer21) c.1526dup (p.Asn510GlnfsTer21) c.1685dup (p.Asn563GlnfsTer21) c.1553dup (p.Asn519GlnfsTer21) c.1715dup (p.Asn573GlnfsTer21) c.1202dup (p.Asn402GlnfsTer21) | |
X | g.2934915C>A | CA412275210 | ARSL | c.1687G>T (p.Gly563Cys) c.1762G>T (p.Gly588Cys) c.1564G>T (p.Gly522Cys) c.1126G>T (p.Gly376Cys) n.1467G>T c.1675G>T (p.Gly559Cys) c.1240G>T (p.Gly414Cys) c.1525G>T (p.Gly509Cys) c.1684G>T (p.Gly562Cys) c.1552G>T (p.Gly518Cys) c.1714G>T (p.Gly572Cys) c.1201G>T (p.Gly401Cys) | gnomAD v4 |
X | g.2934915C>G | CA412275211 | ARSL | c.1687G>C (p.Gly563Arg) c.1762G>C (p.Gly588Arg) c.1564G>C (p.Gly522Arg) c.1126G>C (p.Gly376Arg) n.1467G>C c.1675G>C (p.Gly559Arg) c.1240G>C (p.Gly414Arg) c.1525G>C (p.Gly509Arg) c.1684G>C (p.Gly562Arg) c.1552G>C (p.Gly518Arg) c.1714G>C (p.Gly572Arg) c.1201G>C (p.Gly401Arg) | |
X | g.2934915C>T | CA412275212 | ARSL | c.1687G>A (p.Gly563Ser) c.1762G>A (p.Gly588Ser) c.1564G>A (p.Gly522Ser) c.1126G>A (p.Gly376Ser) n.1467G>A c.1675G>A (p.Gly559Ser) c.1240G>A (p.Gly414Ser) c.1525G>A (p.Gly509Ser) c.1684G>A (p.Gly562Ser) c.1552G>A (p.Gly518Ser) c.1714G>A (p.Gly572Ser) c.1201G>A (p.Gly401Ser) | |
X | g.2934916C>A | CA515396403 | ARSL | c.1686G>T (p.Leu562=) c.1761G>T (p.Leu587=) c.1563G>T (p.Leu521=) c.1125G>T (p.Leu375=) n.1466G>T c.1674G>T (p.Leu558=) c.1239G>T (p.Leu413=) c.1524G>T (p.Leu508=) c.1683G>T (p.Leu561=) c.1551G>T (p.Leu517=) c.1713G>T (p.Leu571=) c.1200G>T (p.Leu400=) | |
X | g.2934916C= | CA2412580509 | ARSL | c.1686G= (p.Leu562=) c.1761G= (p.Leu587=) c.1563G= (p.Leu521=) c.1125G= (p.Leu375=) n.1466G= c.1674G= (p.Leu558=) c.1239G= (p.Leu413=) c.1524G= (p.Leu508=) c.1683G= (p.Leu561=) c.1551G= (p.Leu517=) c.1713G= (p.Leu571=) c.1200G= (p.Leu400=) | |
X | g.2934916C>G | CA16608417 | ARSL | c.1686G>C (p.Leu562=) c.1761G>C (p.Leu587=) c.1563G>C (p.Leu521=) c.1125G>C (p.Leu375=) n.1466G>C c.1674G>C (p.Leu558=) c.1239G>C (p.Leu413=) c.1524G>C (p.Leu508=) c.1683G>C (p.Leu561=) c.1551G>C (p.Leu517=) c.1713G>C (p.Leu571=) c.1200G>C (p.Leu400=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.2934916C>T | CA515396404 | ARSL | c.1686G>A (p.Leu562=) c.1761G>A (p.Leu587=) c.1563G>A (p.Leu521=) c.1125G>A (p.Leu375=) n.1466G>A c.1674G>A (p.Leu558=) c.1239G>A (p.Leu413=) c.1524G>A (p.Leu508=) c.1683G>A (p.Leu561=) c.1551G>A (p.Leu517=) c.1713G>A (p.Leu571=) c.1200G>A (p.Leu400=) | |
X | g.2934917A>C | CA412275213 | ARSL | c.1685T>G (p.Leu562Arg) c.1760T>G (p.Leu587Arg) c.1562T>G (p.Leu521Arg) c.1124T>G (p.Leu375Arg) n.1465T>G c.1673T>G (p.Leu558Arg) c.1238T>G (p.Leu413Arg) c.1523T>G (p.Leu508Arg) c.1682T>G (p.Leu561Arg) c.1550T>G (p.Leu517Arg) c.1712T>G (p.Leu571Arg) c.1199T>G (p.Leu400Arg) | |
X | g.2934917A>G | CA412275214 | ARSL | c.1685T>C (p.Leu562Pro) c.1760T>C (p.Leu587Pro) c.1562T>C (p.Leu521Pro) c.1124T>C (p.Leu375Pro) n.1465T>C c.1673T>C (p.Leu558Pro) c.1238T>C (p.Leu413Pro) c.1523T>C (p.Leu508Pro) c.1682T>C (p.Leu561Pro) c.1550T>C (p.Leu517Pro) c.1712T>C (p.Leu571Pro) c.1199T>C (p.Leu400Pro) | |
X | g.2934917A>T | CA412275215 | ARSL | c.1685T>A (p.Leu562Gln) c.1760T>A (p.Leu587Gln) c.1562T>A (p.Leu521Gln) c.1124T>A (p.Leu375Gln) n.1465T>A c.1673T>A (p.Leu558Gln) c.1238T>A (p.Leu413Gln) c.1523T>A (p.Leu508Gln) c.1682T>A (p.Leu561Gln) c.1550T>A (p.Leu517Gln) c.1712T>A (p.Leu571Gln) c.1199T>A (p.Leu400Gln) | |
X | g.2934918G>A | CA515396407 | ARSL | c.1684C>T (p.Leu562=) c.1759C>T (p.Leu587=) c.1561C>T (p.Leu521=) c.1123C>T (p.Leu375=) n.1464C>T c.1672C>T (p.Leu558=) c.1237C>T (p.Leu413=) c.1522C>T (p.Leu508=) c.1681C>T (p.Leu561=) c.1549C>T (p.Leu517=) c.1711C>T (p.Leu571=) c.1198C>T (p.Leu400=) | |
X | g.2934918G>C | CA412275216 | ARSL | c.1684C>G (p.Leu562Val) c.1759C>G (p.Leu587Val) c.1561C>G (p.Leu521Val) c.1123C>G (p.Leu375Val) n.1464C>G c.1672C>G (p.Leu558Val) c.1237C>G (p.Leu413Val) c.1522C>G (p.Leu508Val) c.1681C>G (p.Leu561Val) c.1549C>G (p.Leu517Val) c.1711C>G (p.Leu571Val) c.1198C>G (p.Leu400Val) | |
X | g.2934918G>T | CA412275217 | ARSL | c.1684C>A (p.Leu562Met) c.1759C>A (p.Leu587Met) c.1561C>A (p.Leu521Met) c.1123C>A (p.Leu375Met) n.1464C>A c.1672C>A (p.Leu558Met) c.1237C>A (p.Leu413Met) c.1522C>A (p.Leu508Met) c.1681C>A (p.Leu561Met) c.1549C>A (p.Leu517Met) c.1711C>A (p.Leu571Met) c.1198C>A (p.Leu400Met) | |
X | g.2934919C>A | CA412275219 | ARSL | c.1683G>T (p.Arg561Ser) c.1758G>T (p.Arg586Ser) c.1560G>T (p.Arg520Ser) c.1122G>T (p.Arg374Ser) n.1463G>T c.1671G>T (p.Arg557Ser) c.1236G>T (p.Arg412Ser) c.1521G>T (p.Arg507Ser) c.1680G>T (p.Arg560Ser) c.1548G>T (p.Arg516Ser) c.1710G>T (p.Arg570Ser) c.1197G>T (p.Arg399Ser) | |
X | g.2934919C>G | CA412275218 | ARSL | c.1683G>C (p.Arg561Ser) c.1758G>C (p.Arg586Ser) c.1560G>C (p.Arg520Ser) c.1122G>C (p.Arg374Ser) n.1463G>C c.1671G>C (p.Arg557Ser) c.1236G>C (p.Arg412Ser) c.1521G>C (p.Arg507Ser) c.1680G>C (p.Arg560Ser) c.1548G>C (p.Arg516Ser) c.1710G>C (p.Arg570Ser) c.1197G>C (p.Arg399Ser) | |
X | g.2934919C>T | CA515396410 | ARSL | c.1683G>A (p.Arg561=) c.1758G>A (p.Arg586=) c.1560G>A (p.Arg520=) c.1122G>A (p.Arg374=) n.1463G>A c.1671G>A (p.Arg557=) c.1236G>A (p.Arg412=) c.1521G>A (p.Arg507=) c.1680G>A (p.Arg560=) c.1548G>A (p.Arg516=) c.1710G>A (p.Arg570=) c.1197G>A (p.Arg399=) | |
X | g.2934920C>A | CA412275220 | ARSL | c.1682G>T (p.Arg561Met) c.1757G>T (p.Arg586Met) c.1559G>T (p.Arg520Met) c.1121G>T (p.Arg374Met) n.1462G>T c.1670G>T (p.Arg557Met) c.1235G>T (p.Arg412Met) c.1520G>T (p.Arg507Met) c.1679G>T (p.Arg560Met) c.1547G>T (p.Arg516Met) c.1709G>T (p.Arg570Met) c.1196G>T (p.Arg399Met) | |
X | g.2934920C>G | CA412275221 | ARSL | c.1682G>C (p.Arg561Thr) c.1757G>C (p.Arg586Thr) c.1559G>C (p.Arg520Thr) c.1121G>C (p.Arg374Thr) n.1462G>C c.1670G>C (p.Arg557Thr) c.1235G>C (p.Arg412Thr) c.1520G>C (p.Arg507Thr) c.1679G>C (p.Arg560Thr) c.1547G>C (p.Arg516Thr) c.1709G>C (p.Arg570Thr) c.1196G>C (p.Arg399Thr) | |
X | g.2934920C>T | CA412275222 | ARSL | c.1682G>A (p.Arg561Lys) c.1757G>A (p.Arg586Lys) c.1559G>A (p.Arg520Lys) c.1121G>A (p.Arg374Lys) n.1462G>A c.1670G>A (p.Arg557Lys) c.1235G>A (p.Arg412Lys) c.1520G>A (p.Arg507Lys) c.1679G>A (p.Arg560Lys) c.1547G>A (p.Arg516Lys) c.1709G>A (p.Arg570Lys) c.1196G>A (p.Arg399Lys) | |
X | g.2934921T>A | CA412275223 | ARSL | c.1681A>T (p.Arg561Trp) c.1756A>T (p.Arg586Trp) c.1558A>T (p.Arg520Trp) c.1120A>T (p.Arg374Trp) n.1461A>T c.1669A>T (p.Arg557Trp) c.1234A>T (p.Arg412Trp) c.1519A>T (p.Arg507Trp) c.1678A>T (p.Arg560Trp) c.1546A>T (p.Arg516Trp) c.1708A>T (p.Arg570Trp) c.1195A>T (p.Arg399Trp) | |
X | g.2934921T>C | CA412275224 | ARSL | c.1681A>G (p.Arg561Gly) c.1756A>G (p.Arg586Gly) c.1558A>G (p.Arg520Gly) c.1120A>G (p.Arg374Gly) n.1461A>G c.1669A>G (p.Arg557Gly) c.1234A>G (p.Arg412Gly) c.1519A>G (p.Arg507Gly) c.1678A>G (p.Arg560Gly) c.1546A>G (p.Arg516Gly) c.1708A>G (p.Arg570Gly) c.1195A>G (p.Arg399Gly) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.2934921T>G | CA515396415 | ARSL | c.1681A>C (p.Arg561=) c.1756A>C (p.Arg586=) c.1558A>C (p.Arg520=) c.1120A>C (p.Arg374=) n.1461A>C c.1669A>C (p.Arg557=) c.1234A>C (p.Arg412=) c.1519A>C (p.Arg507=) c.1678A>C (p.Arg560=) c.1546A>C (p.Arg516=) c.1708A>C (p.Arg570=) c.1195A>C (p.Arg399=) | |
X | g.2934921T= | CA2412580510 | ARSL | c.1681A= (p.Arg561=) c.1756A= (p.Arg586=) c.1558A= (p.Arg520=) c.1120A= (p.Arg374=) n.1461A= c.1669A= (p.Arg557=) c.1234A= (p.Arg412=) c.1519A= (p.Arg507=) c.1678A= (p.Arg560=) c.1546A= (p.Arg516=) c.1708A= (p.Arg570=) c.1195A= (p.Arg399=) | |
X | g.2934922G>A | CA515396416 | ARSL | c.1680C>T (p.Asp560=) c.1755C>T (p.Asp585=) c.1557C>T (p.Asp519=) c.1119C>T (p.Asp373=) n.1460C>T c.1668C>T (p.Asp556=) c.1233C>T (p.Asp411=) c.1518C>T (p.Asp506=) c.1677C>T (p.Asp559=) c.1545C>T (p.Asp515=) c.1707C>T (p.Asp569=) c.1194C>T (p.Asp398=) | |
X | g.2934922G>C | CA412275225 | ARSL | c.1680C>G (p.Asp560Glu) c.1755C>G (p.Asp585Glu) c.1557C>G (p.Asp519Glu) c.1119C>G (p.Asp373Glu) n.1460C>G c.1668C>G (p.Asp556Glu) c.1233C>G (p.Asp411Glu) c.1518C>G (p.Asp506Glu) c.1677C>G (p.Asp559Glu) c.1545C>G (p.Asp515Glu) c.1707C>G (p.Asp569Glu) c.1194C>G (p.Asp398Glu) | |
X | g.2934922G>T | CA412275226 | ARSL | c.1680C>A (p.Asp560Glu) c.1755C>A (p.Asp585Glu) c.1557C>A (p.Asp519Glu) c.1119C>A (p.Asp373Glu) n.1460C>A c.1668C>A (p.Asp556Glu) c.1233C>A (p.Asp411Glu) c.1518C>A (p.Asp506Glu) c.1677C>A (p.Asp559Glu) c.1545C>A (p.Asp515Glu) c.1707C>A (p.Asp569Glu) c.1194C>A (p.Asp398Glu) | |
X | g.2934923T>A | CA412275227 | ARSL | c.1679A>T (p.Asp560Val) c.1754A>T (p.Asp585Val) c.1556A>T (p.Asp519Val) c.1118A>T (p.Asp373Val) n.1459A>T c.1667A>T (p.Asp556Val) c.1232A>T (p.Asp411Val) c.1517A>T (p.Asp506Val) c.1676A>T (p.Asp559Val) c.1544A>T (p.Asp515Val) c.1706A>T (p.Asp569Val) c.1193A>T (p.Asp398Val) | |
X | g.2934923T>C | CA412275228 | ARSL | c.1679A>G (p.Asp560Gly) c.1754A>G (p.Asp585Gly) c.1556A>G (p.Asp519Gly) c.1118A>G (p.Asp373Gly) n.1459A>G c.1667A>G (p.Asp556Gly) c.1232A>G (p.Asp411Gly) c.1517A>G (p.Asp506Gly) c.1676A>G (p.Asp559Gly) c.1544A>G (p.Asp515Gly) c.1706A>G (p.Asp569Gly) c.1193A>G (p.Asp398Gly) | |
X | g.2934923T>G | CA412275229 | ARSL | c.1679A>C (p.Asp560Ala) c.1754A>C (p.Asp585Ala) c.1556A>C (p.Asp519Ala) c.1118A>C (p.Asp373Ala) n.1459A>C c.1667A>C (p.Asp556Ala) c.1232A>C (p.Asp411Ala) c.1517A>C (p.Asp506Ala) c.1676A>C (p.Asp559Ala) c.1544A>C (p.Asp515Ala) c.1706A>C (p.Asp569Ala) c.1193A>C (p.Asp398Ala) | |
X | g.2934924C>A | CA412275230 | ARSL | c.1678G>T (p.Asp560Tyr) c.1753G>T (p.Asp585Tyr) c.1555G>T (p.Asp519Tyr) c.1117G>T (p.Asp373Tyr) n.1458G>T c.1666G>T (p.Asp556Tyr) c.1231G>T (p.Asp411Tyr) c.1516G>T (p.Asp506Tyr) c.1675G>T (p.Asp559Tyr) c.1543G>T (p.Asp515Tyr) c.1705G>T (p.Asp569Tyr) c.1192G>T (p.Asp398Tyr) | |
X | g.2934924C>G | CA412275231 | ARSL | c.1678G>C (p.Asp560His) c.1753G>C (p.Asp585His) c.1555G>C (p.Asp519His) c.1117G>C (p.Asp373His) n.1458G>C c.1666G>C (p.Asp556His) c.1231G>C (p.Asp411His) c.1516G>C (p.Asp506His) c.1675G>C (p.Asp559His) c.1543G>C (p.Asp515His) c.1705G>C (p.Asp569His) c.1192G>C (p.Asp398His) | |
X | g.2934924C>T | CA412275232 | ARSL | c.1678G>A (p.Asp560Asn) c.1753G>A (p.Asp585Asn) c.1555G>A (p.Asp519Asn) c.1117G>A (p.Asp373Asn) n.1458G>A c.1666G>A (p.Asp556Asn) c.1231G>A (p.Asp411Asn) c.1516G>A (p.Asp506Asn) c.1675G>A (p.Asp559Asn) c.1543G>A (p.Asp515Asn) c.1705G>A (p.Asp569Asn) c.1192G>A (p.Asp398Asn) | |
X | g.2934925C>A | CA515396427 | ARSL | c.1677G>T (p.Leu559=) c.1752G>T (p.Leu584=) c.1554G>T (p.Leu518=) c.1116G>T (p.Leu372=) n.1457G>T c.1665G>T (p.Leu555=) c.1230G>T (p.Leu410=) c.1515G>T (p.Leu505=) c.1674G>T (p.Leu558=) c.1542G>T (p.Leu514=) c.1704G>T (p.Leu568=) c.1191G>T (p.Leu397=) | |
X | g.2934925C>G | CA515396426 | ARSL | c.1677G>C (p.Leu559=) c.1752G>C (p.Leu584=) c.1554G>C (p.Leu518=) c.1116G>C (p.Leu372=) n.1457G>C c.1665G>C (p.Leu555=) c.1230G>C (p.Leu410=) c.1515G>C (p.Leu505=) c.1674G>C (p.Leu558=) c.1542G>C (p.Leu514=) c.1704G>C (p.Leu568=) c.1191G>C (p.Leu397=) | |
X | g.2934925C>T | CA515396423 | ARSL | c.1677G>A (p.Leu559=) c.1752G>A (p.Leu584=) c.1554G>A (p.Leu518=) c.1116G>A (p.Leu372=) n.1457G>A c.1665G>A (p.Leu555=) c.1230G>A (p.Leu410=) c.1515G>A (p.Leu505=) c.1674G>A (p.Leu558=) c.1542G>A (p.Leu514=) c.1704G>A (p.Leu568=) c.1191G>A (p.Leu397=) | gnomAD v4 |
X | g.2934926A>C | CA412275234 | ARSL | c.1676T>G (p.Leu559Arg) c.1751T>G (p.Leu584Arg) c.1553T>G (p.Leu518Arg) c.1115T>G (p.Leu372Arg) n.1456T>G c.1664T>G (p.Leu555Arg) c.1229T>G (p.Leu410Arg) c.1514T>G (p.Leu505Arg) c.1673T>G (p.Leu558Arg) c.1541T>G (p.Leu514Arg) c.1703T>G (p.Leu568Arg) c.1190T>G (p.Leu397Arg) | |
X | g.2934926A>G | CA412275235 | ARSL | c.1676T>C (p.Leu559Pro) c.1751T>C (p.Leu584Pro) c.1553T>C (p.Leu518Pro) c.1115T>C (p.Leu372Pro) n.1456T>C c.1664T>C (p.Leu555Pro) c.1229T>C (p.Leu410Pro) c.1514T>C (p.Leu505Pro) c.1673T>C (p.Leu558Pro) c.1541T>C (p.Leu514Pro) c.1703T>C (p.Leu568Pro) c.1190T>C (p.Leu397Pro) | |
X | g.2934926A>T | CA412275233 | ARSL | c.1676T>A (p.Leu559Gln) c.1751T>A (p.Leu584Gln) c.1553T>A (p.Leu518Gln) c.1115T>A (p.Leu372Gln) n.1456T>A c.1664T>A (p.Leu555Gln) c.1229T>A (p.Leu410Gln) c.1514T>A (p.Leu505Gln) c.1673T>A (p.Leu558Gln) c.1541T>A (p.Leu514Gln) c.1703T>A (p.Leu568Gln) c.1190T>A (p.Leu397Gln) | |
X | g.2934927G>A | CA515396429 | ARSL | c.1675C>T (p.Leu559=) c.1750C>T (p.Leu584=) c.1552C>T (p.Leu518=) c.1114C>T (p.Leu372=) n.1455C>T c.1663C>T (p.Leu555=) c.1228C>T (p.Leu410=) c.1513C>T (p.Leu505=) c.1672C>T (p.Leu558=) c.1540C>T (p.Leu514=) c.1702C>T (p.Leu568=) c.1189C>T (p.Leu397=) | |
X | g.2934927G>C | CA10337973 | ARSL | c.1675C>G (p.Leu559Val) c.1750C>G (p.Leu584Val) c.1552C>G (p.Leu518Val) c.1114C>G (p.Leu372Val) n.1455C>G c.1663C>G (p.Leu555Val) c.1228C>G (p.Leu410Val) c.1513C>G (p.Leu505Val) c.1672C>G (p.Leu558Val) c.1540C>G (p.Leu514Val) c.1702C>G (p.Leu568Val) c.1189C>G (p.Leu397Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.2934927G= | CA2412580511 | ARSL | c.1675C= (p.Leu559=) c.1750C= (p.Leu584=) c.1552C= (p.Leu518=) c.1114C= (p.Leu372=) n.1455C= c.1663C= (p.Leu555=) c.1228C= (p.Leu410=) c.1513C= (p.Leu505=) c.1672C= (p.Leu558=) c.1540C= (p.Leu514=) c.1702C= (p.Leu568=) c.1189C= (p.Leu397=) | |
X | g.2934927G>T | CA412275236 | ARSL | c.1675C>A (p.Leu559Met) c.1750C>A (p.Leu584Met) c.1552C>A (p.Leu518Met) c.1114C>A (p.Leu372Met) n.1455C>A c.1663C>A (p.Leu555Met) c.1228C>A (p.Leu410Met) c.1513C>A (p.Leu505Met) c.1672C>A (p.Leu558Met) c.1540C>A (p.Leu514Met) c.1702C>A (p.Leu568Met) c.1189C>A (p.Leu397Met) | |
X | g.2934928C>A | CA412275237 | ARSL | c.1674G>T (p.Gln558His) c.1749G>T (p.Gln583His) c.1551G>T (p.Gln517His) c.1113G>T (p.Gln371His) n.1454G>T c.1662G>T (p.Gln554His) c.1227G>T (p.Gln409His) c.1512G>T (p.Gln504His) c.1671G>T (p.Gln557His) c.1539G>T (p.Gln513His) c.1701G>T (p.Gln567His) c.1188G>T (p.Gln396His) | gnomAD v4 |
X | g.2934928C>G | CA412275238 | ARSL | c.1674G>C (p.Gln558His) c.1749G>C (p.Gln583His) c.1551G>C (p.Gln517His) c.1113G>C (p.Gln371His) n.1454G>C c.1662G>C (p.Gln554His) c.1227G>C (p.Gln409His) c.1512G>C (p.Gln504His) c.1671G>C (p.Gln557His) c.1539G>C (p.Gln513His) c.1701G>C (p.Gln567His) c.1188G>C (p.Gln396His) | |
X | g.2934928C>T | CA515396430 | ARSL | c.1674G>A (p.Gln558=) c.1749G>A (p.Gln583=) c.1551G>A (p.Gln517=) c.1113G>A (p.Gln371=) n.1454G>A c.1662G>A (p.Gln554=) c.1227G>A (p.Gln409=) c.1512G>A (p.Gln504=) c.1671G>A (p.Gln557=) c.1539G>A (p.Gln513=) c.1701G>A (p.Gln567=) c.1188G>A (p.Gln396=) | |
X | g.2934929T>A | CA412275239 | ARSL | c.1673A>T (p.Gln558Leu) c.1748A>T (p.Gln583Leu) c.1550A>T (p.Gln517Leu) c.1112A>T (p.Gln371Leu) n.1453A>T c.1661A>T (p.Gln554Leu) c.1226A>T (p.Gln409Leu) c.1511A>T (p.Gln504Leu) c.1670A>T (p.Gln557Leu) c.1538A>T (p.Gln513Leu) c.1700A>T (p.Gln567Leu) c.1187A>T (p.Gln396Leu) | |
X | g.2934929T>C | CA412275240 | ARSL | c.1673A>G (p.Gln558Arg) c.1748A>G (p.Gln583Arg) c.1550A>G (p.Gln517Arg) c.1112A>G (p.Gln371Arg) n.1453A>G c.1661A>G (p.Gln554Arg) c.1226A>G (p.Gln409Arg) c.1511A>G (p.Gln504Arg) c.1670A>G (p.Gln557Arg) c.1538A>G (p.Gln513Arg) c.1700A>G (p.Gln567Arg) c.1187A>G (p.Gln396Arg) | |
X | g.2934929T>G | CA412275241 | ARSL | c.1673A>C (p.Gln558Pro) c.1748A>C (p.Gln583Pro) c.1550A>C (p.Gln517Pro) c.1112A>C (p.Gln371Pro) n.1453A>C c.1661A>C (p.Gln554Pro) c.1226A>C (p.Gln409Pro) c.1511A>C (p.Gln504Pro) c.1670A>C (p.Gln557Pro) c.1538A>C (p.Gln513Pro) c.1700A>C (p.Gln567Pro) c.1187A>C (p.Gln396Pro) | |
X | g.2934930G>A | CA412275242 | ARSL | c.1672C>T (p.Gln558Ter) c.1747C>T (p.Gln583Ter) c.1549C>T (p.Gln517Ter) c.1111C>T (p.Gln371Ter) n.1452C>T c.1660C>T (p.Gln554Ter) c.1225C>T (p.Gln409Ter) c.1510C>T (p.Gln504Ter) c.1669C>T (p.Gln557Ter) c.1537C>T (p.Gln513Ter) c.1699C>T (p.Gln567Ter) c.1186C>T (p.Gln396Ter) | |
X | g.2934930G>C | CA412275243 | ARSL | c.1672C>G (p.Gln558Glu) c.1747C>G (p.Gln583Glu) c.1549C>G (p.Gln517Glu) c.1111C>G (p.Gln371Glu) n.1452C>G c.1660C>G (p.Gln554Glu) c.1225C>G (p.Gln409Glu) c.1510C>G (p.Gln504Glu) c.1669C>G (p.Gln557Glu) c.1537C>G (p.Gln513Glu) c.1699C>G (p.Gln567Glu) c.1186C>G (p.Gln396Glu) | |
X | g.2934930G= | CA2412580512 | ARSL | c.1672C= (p.Gln558=) c.1747C= (p.Gln583=) c.1549C= (p.Gln517=) c.1111C= (p.Gln371=) n.1452C= c.1660C= (p.Gln554=) c.1225C= (p.Gln409=) c.1510C= (p.Gln504=) c.1669C= (p.Gln557=) c.1537C= (p.Gln513=) c.1699C= (p.Gln567=) c.1186C= (p.Gln396=) | |
X | g.2934930G>T | CA412275244 | ARSL | c.1672C>A (p.Gln558Lys) c.1747C>A (p.Gln583Lys) c.1549C>A (p.Gln517Lys) c.1111C>A (p.Gln371Lys) n.1452C>A c.1660C>A (p.Gln554Lys) c.1225C>A (p.Gln409Lys) c.1510C>A (p.Gln504Lys) c.1669C>A (p.Gln557Lys) c.1537C>A (p.Gln513Lys) c.1699C>A (p.Gln567Lys) c.1186C>A (p.Gln396Lys) | ClinVar dbSNP |
X | g.2934931C>A | CA515396436 | ARSL | c.1671G>T (p.Leu557=) c.1746G>T (p.Leu582=) c.1548G>T (p.Leu516=) c.1110G>T (p.Leu370=) n.1451G>T c.1659G>T (p.Leu553=) c.1224G>T (p.Leu408=) c.1509G>T (p.Leu503=) c.1668G>T (p.Leu556=) c.1536G>T (p.Leu512=) c.1698G>T (p.Leu566=) c.1185G>T (p.Leu395=) | gnomAD v4 |
X | g.2934931C>G | CA515396441 | ARSL | c.1671G>C (p.Leu557=) c.1746G>C (p.Leu582=) c.1548G>C (p.Leu516=) c.1110G>C (p.Leu370=) n.1451G>C c.1659G>C (p.Leu553=) c.1224G>C (p.Leu408=) c.1509G>C (p.Leu503=) c.1668G>C (p.Leu556=) c.1536G>C (p.Leu512=) c.1698G>C (p.Leu566=) c.1185G>C (p.Leu395=) | |
X | g.2934931C>T | CA515396438 | ARSL | c.1671G>A (p.Leu557=) c.1746G>A (p.Leu582=) c.1548G>A (p.Leu516=) c.1110G>A (p.Leu370=) n.1451G>A c.1659G>A (p.Leu553=) c.1224G>A (p.Leu408=) c.1509G>A (p.Leu503=) c.1668G>A (p.Leu556=) c.1536G>A (p.Leu512=) c.1698G>A (p.Leu566=) c.1185G>A (p.Leu395=) | |
X | g.2934932A>C | CA412275245 | ARSL | c.1670T>G (p.Leu557Arg) c.1745T>G (p.Leu582Arg) c.1547T>G (p.Leu516Arg) c.1109T>G (p.Leu370Arg) n.1450T>G c.1658T>G (p.Leu553Arg) c.1223T>G (p.Leu408Arg) c.1508T>G (p.Leu503Arg) c.1667T>G (p.Leu556Arg) c.1535T>G (p.Leu512Arg) c.1697T>G (p.Leu566Arg) c.1184T>G (p.Leu395Arg) | |
X | g.2934932A>G | CA412275246 | ARSL | c.1670T>C (p.Leu557Pro) c.1745T>C (p.Leu582Pro) c.1547T>C (p.Leu516Pro) c.1109T>C (p.Leu370Pro) n.1450T>C c.1658T>C (p.Leu553Pro) c.1223T>C (p.Leu408Pro) c.1508T>C (p.Leu503Pro) c.1667T>C (p.Leu556Pro) c.1535T>C (p.Leu512Pro) c.1697T>C (p.Leu566Pro) c.1184T>C (p.Leu395Pro) | gnomAD v4 |
X | g.2934932A>T | CA412275247 | ARSL | c.1670T>A (p.Leu557Gln) c.1745T>A (p.Leu582Gln) c.1547T>A (p.Leu516Gln) c.1109T>A (p.Leu370Gln) n.1450T>A c.1658T>A (p.Leu553Gln) c.1223T>A (p.Leu408Gln) c.1508T>A (p.Leu503Gln) c.1667T>A (p.Leu556Gln) c.1535T>A (p.Leu512Gln) c.1697T>A (p.Leu566Gln) c.1184T>A (p.Leu395Gln) | |
X | g.2934933G>A | CA515396444 | ARSL | c.1669C>T (p.Leu557=) c.1744C>T (p.Leu582=) c.1546C>T (p.Leu516=) c.1108C>T (p.Leu370=) n.1449C>T c.1657C>T (p.Leu553=) c.1222C>T (p.Leu408=) c.1507C>T (p.Leu503=) c.1666C>T (p.Leu556=) c.1534C>T (p.Leu512=) c.1696C>T (p.Leu566=) c.1183C>T (p.Leu395=) | |
X | g.2934933G>C | CA412275249 | ARSL | c.1669C>G (p.Leu557Val) c.1744C>G (p.Leu582Val) c.1546C>G (p.Leu516Val) c.1108C>G (p.Leu370Val) n.1449C>G c.1657C>G (p.Leu553Val) c.1222C>G (p.Leu408Val) c.1507C>G (p.Leu503Val) c.1666C>G (p.Leu556Val) c.1534C>G (p.Leu512Val) c.1696C>G (p.Leu566Val) c.1183C>G (p.Leu395Val) | |
X | g.2934933G>T | CA412275248 | ARSL | c.1669C>A (p.Leu557Met) c.1744C>A (p.Leu582Met) c.1546C>A (p.Leu516Met) c.1108C>A (p.Leu370Met) n.1449C>A c.1657C>A (p.Leu553Met) c.1222C>A (p.Leu408Met) c.1507C>A (p.Leu503Met) c.1666C>A (p.Leu556Met) c.1534C>A (p.Leu512Met) c.1696C>A (p.Leu566Met) c.1183C>A (p.Leu395Met) | |
X | g.2934934A>C | CA515396446 | ARSL | c.1668T>G (p.Pro556=) c.1743T>G (p.Pro581=) c.1545T>G (p.Pro515=) c.1107T>G (p.Pro369=) n.1448T>G c.1656T>G (p.Pro552=) c.1221T>G (p.Pro407=) c.1506T>G (p.Pro502=) c.1665T>G (p.Pro555=) c.1533T>G (p.Pro511=) c.1695T>G (p.Pro565=) c.1182T>G (p.Pro394=) | |
X | g.2934934A>G | CA515396447 | ARSL | c.1668T>C (p.Pro556=) c.1743T>C (p.Pro581=) c.1545T>C (p.Pro515=) c.1107T>C (p.Pro369=) n.1448T>C c.1656T>C (p.Pro552=) c.1221T>C (p.Pro407=) c.1506T>C (p.Pro502=) c.1665T>C (p.Pro555=) c.1533T>C (p.Pro511=) c.1695T>C (p.Pro565=) c.1182T>C (p.Pro394=) | |
X | g.2934934A>T | CA515396448 | ARSL | c.1668T>A (p.Pro556=) c.1743T>A (p.Pro581=) c.1545T>A (p.Pro515=) c.1107T>A (p.Pro369=) n.1448T>A c.1656T>A (p.Pro552=) c.1221T>A (p.Pro407=) c.1506T>A (p.Pro502=) c.1665T>A (p.Pro555=) c.1533T>A (p.Pro511=) c.1695T>A (p.Pro565=) c.1182T>A (p.Pro394=) | |
X | g.2934935G>A | CA412275250 | ARSL | c.1667C>T (p.Pro556Leu) c.1742C>T (p.Pro581Leu) c.1544C>T (p.Pro515Leu) c.1106C>T (p.Pro369Leu) n.1447C>T c.1655C>T (p.Pro552Leu) c.1220C>T (p.Pro407Leu) c.1505C>T (p.Pro502Leu) c.1664C>T (p.Pro555Leu) c.1532C>T (p.Pro511Leu) c.1694C>T (p.Pro565Leu) c.1181C>T (p.Pro394Leu) | |
X | g.2934935G>C | CA412275251 | ARSL | c.1667C>G (p.Pro556Arg) c.1742C>G (p.Pro581Arg) c.1544C>G (p.Pro515Arg) c.1106C>G (p.Pro369Arg) n.1447C>G c.1655C>G (p.Pro552Arg) c.1220C>G (p.Pro407Arg) c.1505C>G (p.Pro502Arg) c.1664C>G (p.Pro555Arg) c.1532C>G (p.Pro511Arg) c.1694C>G (p.Pro565Arg) c.1181C>G (p.Pro394Arg) | |
X | g.2934935G>T | CA412275252 | ARSL | c.1667C>A (p.Pro556His) c.1742C>A (p.Pro581His) c.1544C>A (p.Pro515His) c.1106C>A (p.Pro369His) n.1447C>A c.1655C>A (p.Pro552His) c.1220C>A (p.Pro407His) c.1505C>A (p.Pro502His) c.1664C>A (p.Pro555His) c.1532C>A (p.Pro511His) c.1694C>A (p.Pro565His) c.1181C>A (p.Pro394His) | |
X | g.2934936G>A | CA412275253 | ARSL | c.1666C>T (p.Pro556Ser) c.1741C>T (p.Pro581Ser) c.1543C>T (p.Pro515Ser) c.1105C>T (p.Pro369Ser) n.1446C>T c.1654C>T (p.Pro552Ser) c.1219C>T (p.Pro407Ser) c.1504C>T (p.Pro502Ser) c.1663C>T (p.Pro555Ser) c.1531C>T (p.Pro511Ser) c.1693C>T (p.Pro565Ser) c.1180C>T (p.Pro394Ser) | dbSNP |
X | g.2934936G>C | CA412275254 | ARSL | c.1666C>G (p.Pro556Ala) c.1741C>G (p.Pro581Ala) c.1543C>G (p.Pro515Ala) c.1105C>G (p.Pro369Ala) n.1446C>G c.1654C>G (p.Pro552Ala) c.1219C>G (p.Pro407Ala) c.1504C>G (p.Pro502Ala) c.1663C>G (p.Pro555Ala) c.1531C>G (p.Pro511Ala) c.1693C>G (p.Pro565Ala) c.1180C>G (p.Pro394Ala) | |
X | g.2934936G= | CA2412580513 | ARSL | c.1666C= (p.Pro556=) c.1741C= (p.Pro581=) c.1543C= (p.Pro515=) c.1105C= (p.Pro369=) n.1446C= c.1654C= (p.Pro552=) c.1219C= (p.Pro407=) c.1504C= (p.Pro502=) c.1663C= (p.Pro555=) c.1531C= (p.Pro511=) c.1693C= (p.Pro565=) c.1180C= (p.Pro394=) | |
X | g.2934936G>T | CA412275255 | ARSL | c.1666C>A (p.Pro556Thr) c.1741C>A (p.Pro581Thr) c.1543C>A (p.Pro515Thr) c.1105C>A (p.Pro369Thr) n.1446C>A c.1654C>A (p.Pro552Thr) c.1219C>A (p.Pro407Thr) c.1504C>A (p.Pro502Thr) c.1663C>A (p.Pro555Thr) c.1531C>A (p.Pro511Thr) c.1693C>A (p.Pro565Thr) c.1180C>A (p.Pro394Thr) | |
X | g.2934937A= | CA2412580514 | ARSL | c.1665T= (p.Val555=) c.1740T= (p.Val580=) c.1542T= (p.Val514=) c.1104T= (p.Val368=) n.1445T= c.1653T= (p.Val551=) c.1218T= (p.Val406=) c.1503T= (p.Val501=) c.1662T= (p.Val554=) c.1530T= (p.Val510=) c.1692T= (p.Val564=) c.1179T= (p.Val393=) | |
X | g.2934937A>C | CA515396450 | ARSL | c.1665T>G (p.Val555=) c.1740T>G (p.Val580=) c.1542T>G (p.Val514=) c.1104T>G (p.Val368=) n.1445T>G c.1653T>G (p.Val551=) c.1218T>G (p.Val406=) c.1503T>G (p.Val501=) c.1662T>G (p.Val554=) c.1530T>G (p.Val510=) c.1692T>G (p.Val564=) c.1179T>G (p.Val393=) | |
X | g.2934937A>G | CA515396452 | ARSL | c.1665T>C (p.Val555=) c.1740T>C (p.Val580=) c.1542T>C (p.Val514=) c.1104T>C (p.Val368=) n.1445T>C c.1653T>C (p.Val551=) c.1218T>C (p.Val406=) c.1503T>C (p.Val501=) c.1662T>C (p.Val554=) c.1530T>C (p.Val510=) c.1692T>C (p.Val564=) c.1179T>C (p.Val393=) | ClinVar dbSNP gnomAD v4 |
X | g.2934937A>T | CA515396453 | ARSL | c.1665T>A (p.Val555=) c.1740T>A (p.Val580=) c.1542T>A (p.Val514=) c.1104T>A (p.Val368=) n.1445T>A c.1653T>A (p.Val551=) c.1218T>A (p.Val406=) c.1503T>A (p.Val501=) c.1662T>A (p.Val554=) c.1530T>A (p.Val510=) c.1692T>A (p.Val564=) c.1179T>A (p.Val393=) | |
X | g.2934938A>C | CA412275256 | ARSL | c.1664T>G (p.Val555Gly) c.1739T>G (p.Val580Gly) c.1541T>G (p.Val514Gly) c.1103T>G (p.Val368Gly) n.1444T>G c.1652T>G (p.Val551Gly) c.1217T>G (p.Val406Gly) c.1502T>G (p.Val501Gly) c.1661T>G (p.Val554Gly) c.1529T>G (p.Val510Gly) c.1691T>G (p.Val564Gly) c.1178T>G (p.Val393Gly) | gnomAD v4 |
X | g.2934938A>G | CA412275257 | ARSL | c.1664T>C (p.Val555Ala) c.1739T>C (p.Val580Ala) c.1541T>C (p.Val514Ala) c.1103T>C (p.Val368Ala) n.1444T>C c.1652T>C (p.Val551Ala) c.1217T>C (p.Val406Ala) c.1502T>C (p.Val501Ala) c.1661T>C (p.Val554Ala) c.1529T>C (p.Val510Ala) c.1691T>C (p.Val564Ala) c.1178T>C (p.Val393Ala) | |
X | g.2934938A>T | CA412275258 | ARSL | c.1664T>A (p.Val555Asp) c.1739T>A (p.Val580Asp) c.1541T>A (p.Val514Asp) c.1103T>A (p.Val368Asp) n.1444T>A c.1652T>A (p.Val551Asp) c.1217T>A (p.Val406Asp) c.1502T>A (p.Val501Asp) c.1661T>A (p.Val554Asp) c.1529T>A (p.Val510Asp) c.1691T>A (p.Val564Asp) c.1178T>A (p.Val393Asp) | |
X | g.2934939C>A | CA412275259 | ARSL | c.1663G>T (p.Val555Phe) c.1738G>T (p.Val580Phe) c.1540G>T (p.Val514Phe) c.1102G>T (p.Val368Phe) n.1443G>T c.1651G>T (p.Val551Phe) c.1216G>T (p.Val406Phe) c.1501G>T (p.Val501Phe) c.1660G>T (p.Val554Phe) c.1528G>T (p.Val510Phe) c.1690G>T (p.Val564Phe) c.1177G>T (p.Val393Phe) | |
X | g.2934939C= | CA2412580515 | ARSL | c.1663G= (p.Val555=) c.1738G= (p.Val580=) c.1540G= (p.Val514=) c.1102G= (p.Val368=) n.1443G= c.1651G= (p.Val551=) c.1216G= (p.Val406=) c.1501G= (p.Val501=) c.1660G= (p.Val554=) c.1528G= (p.Val510=) c.1690G= (p.Val564=) c.1177G= (p.Val393=) | |
X | g.2934939C>G | CA412275260 | ARSL | c.1663G>C (p.Val555Leu) c.1738G>C (p.Val580Leu) c.1540G>C (p.Val514Leu) c.1102G>C (p.Val368Leu) n.1443G>C c.1651G>C (p.Val551Leu) c.1216G>C (p.Val406Leu) c.1501G>C (p.Val501Leu) c.1660G>C (p.Val554Leu) c.1528G>C (p.Val510Leu) c.1690G>C (p.Val564Leu) c.1177G>C (p.Val393Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.2934939C>T | CA412275261 | ARSL | c.1663G>A (p.Val555Ile) c.1738G>A (p.Val580Ile) c.1540G>A (p.Val514Ile) c.1102G>A (p.Val368Ile) n.1443G>A c.1651G>A (p.Val551Ile) c.1216G>A (p.Val406Ile) c.1501G>A (p.Val501Ile) c.1660G>A (p.Val554Ile) c.1528G>A (p.Val510Ile) c.1690G>A (p.Val564Ile) c.1177G>A (p.Val393Ile) | dbSNP gnomAD v4 |
X | g.2934940T>A | CA515396461 | ARSL | c.1662A>T (p.Pro554=) c.1737A>T (p.Pro579=) c.1539A>T (p.Pro513=) c.1101A>T (p.Pro367=) n.1442A>T c.1650A>T (p.Pro550=) c.1215A>T (p.Pro405=) c.1500A>T (p.Pro500=) c.1659A>T (p.Pro553=) c.1527A>T (p.Pro509=) c.1689A>T (p.Pro563=) c.1176A>T (p.Pro392=) | dbSNP gnomAD v4 |
X | g.2934940T>C | CA515396465 | ARSL | c.1662A>G (p.Pro554=) c.1737A>G (p.Pro579=) c.1539A>G (p.Pro513=) c.1101A>G (p.Pro367=) n.1442A>G c.1650A>G (p.Pro550=) c.1215A>G (p.Pro405=) c.1500A>G (p.Pro500=) c.1659A>G (p.Pro553=) c.1527A>G (p.Pro509=) c.1689A>G (p.Pro563=) c.1176A>G (p.Pro392=) | |
X | g.2934940T>G | CA515396467 | ARSL | c.1662A>C (p.Pro554=) c.1737A>C (p.Pro579=) c.1539A>C (p.Pro513=) c.1101A>C (p.Pro367=) n.1442A>C c.1650A>C (p.Pro550=) c.1215A>C (p.Pro405=) c.1500A>C (p.Pro500=) c.1659A>C (p.Pro553=) c.1527A>C (p.Pro509=) c.1689A>C (p.Pro563=) c.1176A>C (p.Pro392=) | |
X | g.2934940T= | CA2412580516 | ARSL | c.1662A= (p.Pro554=) c.1737A= (p.Pro579=) c.1539A= (p.Pro513=) c.1101A= (p.Pro367=) n.1442A= c.1650A= (p.Pro550=) c.1215A= (p.Pro405=) c.1500A= (p.Pro500=) c.1659A= (p.Pro553=) c.1527A= (p.Pro509=) c.1689A= (p.Pro563=) c.1176A= (p.Pro392=) | |
X | g.2934941G>A | CA412275263 | ARSL | c.1661C>T (p.Pro554Leu) c.1736C>T (p.Pro579Leu) c.1538C>T (p.Pro513Leu) c.1100C>T (p.Pro367Leu) n.1441C>T c.1649C>T (p.Pro550Leu) c.1214C>T (p.Pro405Leu) c.1499C>T (p.Pro500Leu) c.1658C>T (p.Pro553Leu) c.1526C>T (p.Pro509Leu) c.1688C>T (p.Pro563Leu) c.1175C>T (p.Pro392Leu) | |
X | g.2934941G>C | CA412275264 | ARSL | c.1661C>G (p.Pro554Arg) c.1736C>G (p.Pro579Arg) c.1538C>G (p.Pro513Arg) c.1100C>G (p.Pro367Arg) n.1441C>G c.1649C>G (p.Pro550Arg) c.1214C>G (p.Pro405Arg) c.1499C>G (p.Pro500Arg) c.1658C>G (p.Pro553Arg) c.1526C>G (p.Pro509Arg) c.1688C>G (p.Pro563Arg) c.1175C>G (p.Pro392Arg) | |
X | g.2934941G= | CA2412580517 | ARSL | c.1661C= (p.Pro554=) c.1736C= (p.Pro579=) c.1538C= (p.Pro513=) c.1100C= (p.Pro367=) n.1441C= c.1649C= (p.Pro550=) c.1214C= (p.Pro405=) c.1499C= (p.Pro500=) c.1658C= (p.Pro553=) c.1526C= (p.Pro509=) c.1688C= (p.Pro563=) c.1175C= (p.Pro392=) | |
X | g.2934941G>T | CA412275262 | ARSL | c.1661C>A (p.Pro554Gln) c.1736C>A (p.Pro579Gln) c.1538C>A (p.Pro513Gln) c.1100C>A (p.Pro367Gln) n.1441C>A c.1649C>A (p.Pro550Gln) c.1214C>A (p.Pro405Gln) c.1499C>A (p.Pro500Gln) c.1658C>A (p.Pro553Gln) c.1526C>A (p.Pro509Gln) c.1688C>A (p.Pro563Gln) c.1175C>A (p.Pro392Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.2934942G>A | CA412275265 | ARSL | c.1660C>T (p.Pro554Ser) c.1735C>T (p.Pro579Ser) c.1537C>T (p.Pro513Ser) c.1099C>T (p.Pro367Ser) n.1440C>T c.1648C>T (p.Pro550Ser) c.1213C>T (p.Pro405Ser) c.1498C>T (p.Pro500Ser) c.1657C>T (p.Pro553Ser) c.1525C>T (p.Pro509Ser) c.1687C>T (p.Pro563Ser) c.1174C>T (p.Pro392Ser) | dbSNP gnomAD v4 |
X | g.2934942G>C | CA412275266 | ARSL | c.1660C>G (p.Pro554Ala) c.1735C>G (p.Pro579Ala) c.1537C>G (p.Pro513Ala) c.1099C>G (p.Pro367Ala) n.1440C>G c.1648C>G (p.Pro550Ala) c.1213C>G (p.Pro405Ala) c.1498C>G (p.Pro500Ala) c.1657C>G (p.Pro553Ala) c.1525C>G (p.Pro509Ala) c.1687C>G (p.Pro563Ala) c.1174C>G (p.Pro392Ala) | gnomAD v4 |
X | g.2934942G= | CA2412580518 | ARSL | c.1660C= (p.Pro554=) c.1735C= (p.Pro579=) c.1537C= (p.Pro513=) c.1099C= (p.Pro367=) n.1440C= c.1648C= (p.Pro550=) c.1213C= (p.Pro405=) c.1498C= (p.Pro500=) c.1657C= (p.Pro553=) c.1525C= (p.Pro509=) c.1687C= (p.Pro563=) c.1174C= (p.Pro392=) | |
X | g.2934942G>T | CA412275267 | ARSL | c.1660C>A (p.Pro554Thr) c.1735C>A (p.Pro579Thr) c.1537C>A (p.Pro513Thr) c.1099C>A (p.Pro367Thr) n.1440C>A c.1648C>A (p.Pro550Thr) c.1213C>A (p.Pro405Thr) c.1498C>A (p.Pro500Thr) c.1657C>A (p.Pro553Thr) c.1525C>A (p.Pro509Thr) c.1687C>A (p.Pro563Thr) c.1174C>A (p.Pro392Thr) | |
X | g.2934943G>A | CA515396480 | ARSL | c.1659C>T (p.Ser553=) c.1734C>T (p.Ser578=) c.1536C>T (p.Ser512=) c.1098C>T (p.Ser366=) n.1439C>T c.1647C>T (p.Ser549=) c.1212C>T (p.Ser404=) c.1497C>T (p.Ser499=) c.1656C>T (p.Ser552=) c.1524C>T (p.Ser508=) c.1686C>T (p.Ser562=) c.1173C>T (p.Ser391=) | ClinVar |
X | g.2934943G>C | CA412275268 | ARSL | c.1659C>G (p.Ser553Arg) c.1734C>G (p.Ser578Arg) c.1536C>G (p.Ser512Arg) c.1098C>G (p.Ser366Arg) n.1439C>G c.1647C>G (p.Ser549Arg) c.1212C>G (p.Ser404Arg) c.1497C>G (p.Ser499Arg) c.1656C>G (p.Ser552Arg) c.1524C>G (p.Ser508Arg) c.1686C>G (p.Ser562Arg) c.1173C>G (p.Ser391Arg) | |
X | g.2934943G= | CA2412580519 | ARSL | c.1659C= (p.Ser553=) c.1734C= (p.Ser578=) c.1536C= (p.Ser512=) c.1098C= (p.Ser366=) n.1439C= c.1647C= (p.Ser549=) c.1212C= (p.Ser404=) c.1497C= (p.Ser499=) c.1656C= (p.Ser552=) c.1524C= (p.Ser508=) c.1686C= (p.Ser562=) c.1173C= (p.Ser391=) | |
X | g.2934943G>T | CA412275269 | ARSL | c.1659C>A (p.Ser553Arg) c.1734C>A (p.Ser578Arg) c.1536C>A (p.Ser512Arg) c.1098C>A (p.Ser366Arg) n.1439C>A c.1647C>A (p.Ser549Arg) c.1212C>A (p.Ser404Arg) c.1497C>A (p.Ser499Arg) c.1656C>A (p.Ser552Arg) c.1524C>A (p.Ser508Arg) c.1686C>A (p.Ser562Arg) c.1173C>A (p.Ser391Arg) | dbSNP gnomAD v4 |
X | g.2934944C>A | CA412275270 | ARSL | c.1658G>T (p.Ser553Ile) c.1733G>T (p.Ser578Ile) c.1535G>T (p.Ser512Ile) c.1097G>T (p.Ser366Ile) n.1438G>T c.1646G>T (p.Ser549Ile) c.1211G>T (p.Ser404Ile) c.1496G>T (p.Ser499Ile) c.1655G>T (p.Ser552Ile) c.1523G>T (p.Ser508Ile) c.1685G>T (p.Ser562Ile) c.1172G>T (p.Ser391Ile) | |
X | g.2934944C>G | CA412275271 | ARSL | c.1658G>C (p.Ser553Thr) c.1733G>C (p.Ser578Thr) c.1535G>C (p.Ser512Thr) c.1097G>C (p.Ser366Thr) n.1438G>C c.1646G>C (p.Ser549Thr) c.1211G>C (p.Ser404Thr) c.1496G>C (p.Ser499Thr) c.1655G>C (p.Ser552Thr) c.1523G>C (p.Ser508Thr) c.1685G>C (p.Ser562Thr) c.1172G>C (p.Ser391Thr) | |
X | g.2934944C>T | CA412275272 | ARSL | c.1658G>A (p.Ser553Asn) c.1733G>A (p.Ser578Asn) c.1535G>A (p.Ser512Asn) c.1097G>A (p.Ser366Asn) n.1438G>A c.1646G>A (p.Ser549Asn) c.1211G>A (p.Ser404Asn) c.1496G>A (p.Ser499Asn) c.1655G>A (p.Ser552Asn) c.1523G>A (p.Ser508Asn) c.1685G>A (p.Ser562Asn) c.1172G>A (p.Ser391Asn) | |
X | g.2934945T>A | CA412275273 | ARSL | c.1657A>T (p.Ser553Cys) c.1732A>T (p.Ser578Cys) c.1534A>T (p.Ser512Cys) c.1096A>T (p.Ser366Cys) n.1437A>T c.1645A>T (p.Ser549Cys) c.1210A>T (p.Ser404Cys) c.1495A>T (p.Ser499Cys) c.1654A>T (p.Ser552Cys) c.1522A>T (p.Ser508Cys) c.1684A>T (p.Ser562Cys) c.1171A>T (p.Ser391Cys) | |
X | g.2934945T>C | CA412275274 | ARSL | c.1657A>G (p.Ser553Gly) c.1732A>G (p.Ser578Gly) c.1534A>G (p.Ser512Gly) c.1096A>G (p.Ser366Gly) n.1437A>G c.1645A>G (p.Ser549Gly) c.1210A>G (p.Ser404Gly) c.1495A>G (p.Ser499Gly) c.1654A>G (p.Ser552Gly) c.1522A>G (p.Ser508Gly) c.1684A>G (p.Ser562Gly) c.1171A>G (p.Ser391Gly) | |
X | g.2934945T>G | CA412275275 | ARSL | c.1657A>C (p.Ser553Arg) c.1732A>C (p.Ser578Arg) c.1534A>C (p.Ser512Arg) c.1096A>C (p.Ser366Arg) n.1437A>C c.1645A>C (p.Ser549Arg) c.1210A>C (p.Ser404Arg) c.1495A>C (p.Ser499Arg) c.1654A>C (p.Ser552Arg) c.1522A>C (p.Ser508Arg) c.1684A>C (p.Ser562Arg) c.1171A>C (p.Ser391Arg) | dbSNP gnomAD v2 gnomAD v4 |
X | g.2934945T= | CA2412580520 | ARSL | c.1657A= (p.Ser553=) c.1732A= (p.Ser578=) c.1534A= (p.Ser512=) c.1096A= (p.Ser366=) n.1437A= c.1645A= (p.Ser549=) c.1210A= (p.Ser404=) c.1495A= (p.Ser499=) c.1654A= (p.Ser552=) c.1522A= (p.Ser508=) c.1684A= (p.Ser562=) c.1171A= (p.Ser391=) | |
X | g.2934946G>A | CA10337974 | ARSL | c.1656C>T (p.Leu552=) c.1731C>T (p.Leu577=) c.1533C>T (p.Leu511=) c.1095C>T (p.Leu365=) n.1436C>T c.1644C>T (p.Leu548=) c.1209C>T (p.Leu403=) c.1494C>T (p.Leu498=) c.1653C>T (p.Leu551=) c.1521C>T (p.Leu507=) c.1683C>T (p.Leu561=) c.1170C>T (p.Leu390=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.2934946G>C | CA515396487 | ARSL | c.1656C>G (p.Leu552=) c.1731C>G (p.Leu577=) c.1533C>G (p.Leu511=) c.1095C>G (p.Leu365=) n.1436C>G c.1644C>G (p.Leu548=) c.1209C>G (p.Leu403=) c.1494C>G (p.Leu498=) c.1653C>G (p.Leu551=) c.1521C>G (p.Leu507=) c.1683C>G (p.Leu561=) c.1170C>G (p.Leu390=) | |
X | g.2934946G= | CA2412580521 | ARSL | c.1656C= (p.Leu552=) c.1731C= (p.Leu577=) c.1533C= (p.Leu511=) c.1095C= (p.Leu365=) n.1436C= c.1644C= (p.Leu548=) c.1209C= (p.Leu403=) c.1494C= (p.Leu498=) c.1653C= (p.Leu551=) c.1521C= (p.Leu507=) c.1683C= (p.Leu561=) c.1170C= (p.Leu390=) | |
X | g.2934946G>T | CA515396488 | ARSL | c.1656C>A (p.Leu552=) c.1731C>A (p.Leu577=) c.1533C>A (p.Leu511=) c.1095C>A (p.Leu365=) n.1436C>A c.1644C>A (p.Leu548=) c.1209C>A (p.Leu403=) c.1494C>A (p.Leu498=) c.1653C>A (p.Leu551=) c.1521C>A (p.Leu507=) c.1683C>A (p.Leu561=) c.1170C>A (p.Leu390=) | |
X | g.2934947A>C | CA412275278 | ARSL | c.1655T>G (p.Leu552Arg) c.1730T>G (p.Leu577Arg) c.1532T>G (p.Leu511Arg) c.1094T>G (p.Leu365Arg) n.1435T>G c.1643T>G (p.Leu548Arg) c.1208T>G (p.Leu403Arg) c.1493T>G (p.Leu498Arg) c.1652T>G (p.Leu551Arg) c.1520T>G (p.Leu507Arg) c.1682T>G (p.Leu561Arg) c.1169T>G (p.Leu390Arg) | |
X | g.2934947A>G | CA412275276 | ARSL | c.1655T>C (p.Leu552Pro) c.1730T>C (p.Leu577Pro) c.1532T>C (p.Leu511Pro) c.1094T>C (p.Leu365Pro) n.1435T>C c.1643T>C (p.Leu548Pro) c.1208T>C (p.Leu403Pro) c.1493T>C (p.Leu498Pro) c.1652T>C (p.Leu551Pro) c.1520T>C (p.Leu507Pro) c.1682T>C (p.Leu561Pro) c.1169T>C (p.Leu390Pro) | |
X | g.2934947A>T | CA412275277 | ARSL | c.1655T>A (p.Leu552His) c.1730T>A (p.Leu577His) c.1532T>A (p.Leu511His) c.1094T>A (p.Leu365His) n.1435T>A c.1643T>A (p.Leu548His) c.1208T>A (p.Leu403His) c.1493T>A (p.Leu498His) c.1652T>A (p.Leu551His) c.1520T>A (p.Leu507His) c.1682T>A (p.Leu561His) c.1169T>A (p.Leu390His) | |
X | g.2934948G>A | CA412275279 | ARSL | c.1654C>T (p.Leu552Phe) c.1729C>T (p.Leu577Phe) c.1531C>T (p.Leu511Phe) c.1093C>T (p.Leu365Phe) n.1434C>T c.1642C>T (p.Leu548Phe) c.1207C>T (p.Leu403Phe) c.1492C>T (p.Leu498Phe) c.1651C>T (p.Leu551Phe) c.1519C>T (p.Leu507Phe) c.1681C>T (p.Leu561Phe) c.1168C>T (p.Leu390Phe) | |
X | g.2934948G>C | CA412275280 | ARSL | c.1654C>G (p.Leu552Val) c.1729C>G (p.Leu577Val) c.1531C>G (p.Leu511Val) c.1093C>G (p.Leu365Val) n.1434C>G c.1642C>G (p.Leu548Val) c.1207C>G (p.Leu403Val) c.1492C>G (p.Leu498Val) c.1651C>G (p.Leu551Val) c.1519C>G (p.Leu507Val) c.1681C>G (p.Leu561Val) c.1168C>G (p.Leu390Val) | |
X | g.2934948G>T | CA412275281 | ARSL | c.1654C>A (p.Leu552Ile) c.1729C>A (p.Leu577Ile) c.1531C>A (p.Leu511Ile) c.1093C>A (p.Leu365Ile) n.1434C>A c.1642C>A (p.Leu548Ile) c.1207C>A (p.Leu403Ile) c.1492C>A (p.Leu498Ile) c.1651C>A (p.Leu551Ile) c.1519C>A (p.Leu507Ile) c.1681C>A (p.Leu561Ile) c.1168C>A (p.Leu390Ile) | |
X | g.2934949T>A | CA10337975 | ARSL | c.1653A>T (p.Thr551=) c.1728A>T (p.Thr576=) c.1530A>T (p.Thr510=) c.1092A>T (p.Thr364=) n.1433A>T c.1641A>T (p.Thr547=) c.1206A>T (p.Thr402=) c.1491A>T (p.Thr497=) c.1650A>T (p.Thr550=) c.1518A>T (p.Thr506=) c.1680A>T (p.Thr560=) c.1167A>T (p.Thr389=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.2934949T>C | CA515396496 | ARSL | c.1653A>G (p.Thr551=) c.1728A>G (p.Thr576=) c.1530A>G (p.Thr510=) c.1092A>G (p.Thr364=) n.1433A>G c.1641A>G (p.Thr547=) c.1206A>G (p.Thr402=) c.1491A>G (p.Thr497=) c.1650A>G (p.Thr550=) c.1518A>G (p.Thr506=) c.1680A>G (p.Thr560=) c.1167A>G (p.Thr389=) | |
X | g.2934949T>G | CA515396497 | ARSL | c.1653A>C (p.Thr551=) c.1728A>C (p.Thr576=) c.1530A>C (p.Thr510=) c.1092A>C (p.Thr364=) n.1433A>C c.1641A>C (p.Thr547=) c.1206A>C (p.Thr402=) c.1491A>C (p.Thr497=) c.1650A>C (p.Thr550=) c.1518A>C (p.Thr506=) c.1680A>C (p.Thr560=) c.1167A>C (p.Thr389=) | |
X | g.2934949T= | CA2412580522 | ARSL | c.1653A= (p.Thr551=) c.1728A= (p.Thr576=) c.1530A= (p.Thr510=) c.1092A= (p.Thr364=) n.1433A= c.1641A= (p.Thr547=) c.1206A= (p.Thr402=) c.1491A= (p.Thr497=) c.1650A= (p.Thr550=) c.1518A= (p.Thr506=) c.1680A= (p.Thr560=) c.1167A= (p.Thr389=) | |
X | g.2934950G>A | CA412275282 | ARSL | c.1652C>T (p.Thr551Ile) c.1727C>T (p.Thr576Ile) c.1529C>T (p.Thr510Ile) c.1091C>T (p.Thr364Ile) n.1432C>T c.1640C>T (p.Thr547Ile) c.1205C>T (p.Thr402Ile) c.1490C>T (p.Thr497Ile) c.1649C>T (p.Thr550Ile) c.1517C>T (p.Thr506Ile) c.1679C>T (p.Thr560Ile) c.1166C>T (p.Thr389Ile) | |
X | g.2934950G>C | CA412275283 | ARSL | c.1652C>G (p.Thr551Arg) c.1727C>G (p.Thr576Arg) c.1529C>G (p.Thr510Arg) c.1091C>G (p.Thr364Arg) n.1432C>G c.1640C>G (p.Thr547Arg) c.1205C>G (p.Thr402Arg) c.1490C>G (p.Thr497Arg) c.1649C>G (p.Thr550Arg) c.1517C>G (p.Thr506Arg) c.1679C>G (p.Thr560Arg) c.1166C>G (p.Thr389Arg) | |
X | g.2934950G>T | CA412275284 | ARSL | c.1652C>A (p.Thr551Lys) c.1727C>A (p.Thr576Lys) c.1529C>A (p.Thr510Lys) c.1091C>A (p.Thr364Lys) n.1432C>A c.1640C>A (p.Thr547Lys) c.1205C>A (p.Thr402Lys) c.1490C>A (p.Thr497Lys) c.1649C>A (p.Thr550Lys) c.1517C>A (p.Thr506Lys) c.1679C>A (p.Thr560Lys) c.1166C>A (p.Thr389Lys) | |
X | g.2934951T>A | CA412275285 | ARSL | c.1651A>T (p.Thr551Ser) c.1726A>T (p.Thr576Ser) c.1528A>T (p.Thr510Ser) c.1090A>T (p.Thr364Ser) n.1431A>T c.1639A>T (p.Thr547Ser) c.1204A>T (p.Thr402Ser) c.1489A>T (p.Thr497Ser) c.1648A>T (p.Thr550Ser) c.1516A>T (p.Thr506Ser) c.1678A>T (p.Thr560Ser) c.1165A>T (p.Thr389Ser) | |
X | g.2934951T>C | CA10337976 | ARSL | c.1651A>G (p.Thr551Ala) c.1726A>G (p.Thr576Ala) c.1528A>G (p.Thr510Ala) c.1090A>G (p.Thr364Ala) n.1431A>G c.1639A>G (p.Thr547Ala) c.1204A>G (p.Thr402Ala) c.1489A>G (p.Thr497Ala) c.1648A>G (p.Thr550Ala) c.1516A>G (p.Thr506Ala) c.1678A>G (p.Thr560Ala) c.1165A>G (p.Thr389Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.2934951T>G | CA412275286 | ARSL | c.1651A>C (p.Thr551Pro) c.1726A>C (p.Thr576Pro) c.1528A>C (p.Thr510Pro) c.1090A>C (p.Thr364Pro) n.1431A>C c.1639A>C (p.Thr547Pro) c.1204A>C (p.Thr402Pro) c.1489A>C (p.Thr497Pro) c.1648A>C (p.Thr550Pro) c.1516A>C (p.Thr506Pro) c.1678A>C (p.Thr560Pro) c.1165A>C (p.Thr389Pro) | |
X | g.2934951T= | CA2412580523 | ARSL | c.1651A= (p.Thr551=) c.1726A= (p.Thr576=) c.1528A= (p.Thr510=) c.1090A= (p.Thr364=) n.1431A= c.1639A= (p.Thr547=) c.1204A= (p.Thr402=) c.1489A= (p.Thr497=) c.1648A= (p.Thr550=) c.1516A= (p.Thr506=) c.1678A= (p.Thr560=) c.1165A= (p.Thr389=) | |
X | g.2934952C>A | CA515396503 | ARSL | c.1650G>T (p.Arg550=) c.1725G>T (p.Arg575=) c.1527G>T (p.Arg509=) c.1089G>T (p.Arg363=) n.1430G>T c.1638G>T (p.Arg546=) c.1203G>T (p.Arg401=) c.1488G>T (p.Arg496=) c.1647G>T (p.Arg549=) c.1515G>T (p.Arg505=) c.1677G>T (p.Arg559=) c.1164G>T (p.Arg388=) | |
X | g.2934952C>G | CA515396502 | ARSL | c.1650G>C (p.Arg550=) c.1725G>C (p.Arg575=) c.1527G>C (p.Arg509=) c.1089G>C (p.Arg363=) n.1430G>C c.1638G>C (p.Arg546=) c.1203G>C (p.Arg401=) c.1488G>C (p.Arg496=) c.1647G>C (p.Arg549=) c.1515G>C (p.Arg505=) c.1677G>C (p.Arg559=) c.1164G>C (p.Arg388=) | |
X | g.2934952C>T | CA515396500 | ARSL | c.1650G>A (p.Arg550=) c.1725G>A (p.Arg575=) c.1527G>A (p.Arg509=) c.1089G>A (p.Arg363=) n.1430G>A c.1638G>A (p.Arg546=) c.1203G>A (p.Arg401=) c.1488G>A (p.Arg496=) c.1647G>A (p.Arg549=) c.1515G>A (p.Arg505=) c.1677G>A (p.Arg559=) c.1164G>A (p.Arg388=) | gnomAD v4 |
X | g.2934953C>A | CA412275287 | ARSL | c.1649G>T (p.Arg550Leu) c.1724G>T (p.Arg575Leu) c.1526G>T (p.Arg509Leu) c.1088G>T (p.Arg363Leu) n.1429G>T c.1637G>T (p.Arg546Leu) c.1202G>T (p.Arg401Leu) c.1487G>T (p.Arg496Leu) c.1646G>T (p.Arg549Leu) c.1514G>T (p.Arg505Leu) c.1676G>T (p.Arg559Leu) c.1163G>T (p.Arg388Leu) | gnomAD v4 |
X | g.2934953C= | CA2412580524 | ARSL | c.1649G= (p.Arg550=) c.1724G= (p.Arg575=) c.1526G= (p.Arg509=) c.1088G= (p.Arg363=) n.1429G= c.1637G= (p.Arg546=) c.1202G= (p.Arg401=) c.1487G= (p.Arg496=) c.1646G= (p.Arg549=) c.1514G= (p.Arg505=) c.1676G= (p.Arg559=) c.1163G= (p.Arg388=) | |
X | g.2934953C>G | CA412275288 | ARSL | c.1649G>C (p.Arg550Pro) c.1724G>C (p.Arg575Pro) c.1526G>C (p.Arg509Pro) c.1088G>C (p.Arg363Pro) n.1429G>C c.1637G>C (p.Arg546Pro) c.1202G>C (p.Arg401Pro) c.1487G>C (p.Arg496Pro) c.1646G>C (p.Arg549Pro) c.1514G>C (p.Arg505Pro) c.1676G>C (p.Arg559Pro) c.1163G>C (p.Arg388Pro) | |
X | g.2934953C>T | CA412275289 | ARSL | c.1649G>A (p.Arg550Gln) c.1724G>A (p.Arg575Gln) c.1526G>A (p.Arg509Gln) c.1088G>A (p.Arg363Gln) n.1429G>A c.1637G>A (p.Arg546Gln) c.1202G>A (p.Arg401Gln) c.1487G>A (p.Arg496Gln) c.1646G>A (p.Arg549Gln) c.1514G>A (p.Arg505Gln) c.1676G>A (p.Arg559Gln) c.1163G>A (p.Arg388Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.2934954G>A | CA412275291 | ARSL | c.1648C>T (p.Arg550Trp) c.1723C>T (p.Arg575Trp) c.1525C>T (p.Arg509Trp) c.1087C>T (p.Arg363Trp) n.1428C>T c.1636C>T (p.Arg546Trp) c.1201C>T (p.Arg401Trp) c.1486C>T (p.Arg496Trp) c.1645C>T (p.Arg549Trp) c.1513C>T (p.Arg505Trp) c.1675C>T (p.Arg559Trp) c.1162C>T (p.Arg388Trp) | gnomAD v4 |
X | g.2934954G>C | CA412275290 | ARSL | c.1648C>G (p.Arg550Gly) c.1723C>G (p.Arg575Gly) c.1525C>G (p.Arg509Gly) c.1087C>G (p.Arg363Gly) n.1428C>G c.1636C>G (p.Arg546Gly) c.1201C>G (p.Arg401Gly) c.1486C>G (p.Arg496Gly) c.1645C>G (p.Arg549Gly) c.1513C>G (p.Arg505Gly) c.1675C>G (p.Arg559Gly) c.1162C>G (p.Arg388Gly) | |
X | g.2934954G>T | CA515396504 | ARSL | c.1648C>A (p.Arg550=) c.1723C>A (p.Arg575=) c.1525C>A (p.Arg509=) c.1087C>A (p.Arg363=) n.1428C>A c.1636C>A (p.Arg546=) c.1201C>A (p.Arg401=) c.1486C>A (p.Arg496=) c.1645C>A (p.Arg549=) c.1513C>A (p.Arg505=) c.1675C>A (p.Arg559=) c.1162C>A (p.Arg388=) | |
X | g.2934955C>A | CA412275292 | ARSL | c.1647G>T (p.Gln549His) c.1722G>T (p.Gln574His) c.1524G>T (p.Gln508His) c.1086G>T (p.Gln362His) n.1427G>T c.1635G>T (p.Gln545His) c.1200G>T (p.Gln400His) c.1485G>T (p.Gln495His) c.1644G>T (p.Gln548His) c.1512G>T (p.Gln504His) c.1674G>T (p.Gln558His) c.1161G>T (p.Gln387His) | |
X | g.2934955C>G | CA412275293 | ARSL | c.1647G>C (p.Gln549His) c.1722G>C (p.Gln574His) c.1524G>C (p.Gln508His) c.1086G>C (p.Gln362His) n.1427G>C c.1635G>C (p.Gln545His) c.1200G>C (p.Gln400His) c.1485G>C (p.Gln495His) c.1644G>C (p.Gln548His) c.1512G>C (p.Gln504His) c.1674G>C (p.Gln558His) c.1161G>C (p.Gln387His) | |
X | g.2934955C>T | CA515396506 | ARSL | c.1647G>A (p.Gln549=) c.1722G>A (p.Gln574=) c.1524G>A (p.Gln508=) c.1086G>A (p.Gln362=) n.1427G>A c.1635G>A (p.Gln545=) c.1200G>A (p.Gln400=) c.1485G>A (p.Gln495=) c.1644G>A (p.Gln548=) c.1512G>A (p.Gln504=) c.1674G>A (p.Gln558=) c.1161G>A (p.Gln387=) | COSMIC COSMIC |
X | g.2934956T>A | CA412275294 | ARSL | c.1646A>T (p.Gln549Leu) c.1721A>T (p.Gln574Leu) c.1523A>T (p.Gln508Leu) c.1085A>T (p.Gln362Leu) n.1426A>T c.1634A>T (p.Gln545Leu) c.1199A>T (p.Gln400Leu) c.1484A>T (p.Gln495Leu) c.1643A>T (p.Gln548Leu) c.1511A>T (p.Gln504Leu) c.1673A>T (p.Gln558Leu) c.1160A>T (p.Gln387Leu) | |
X | g.2934956T>C | CA412275296 | ARSL | c.1646A>G (p.Gln549Arg) c.1721A>G (p.Gln574Arg) c.1523A>G (p.Gln508Arg) c.1085A>G (p.Gln362Arg) n.1426A>G c.1634A>G (p.Gln545Arg) c.1199A>G (p.Gln400Arg) c.1484A>G (p.Gln495Arg) c.1643A>G (p.Gln548Arg) c.1511A>G (p.Gln504Arg) c.1673A>G (p.Gln558Arg) c.1160A>G (p.Gln387Arg) | dbSNP gnomAD v4 |
X | g.2934956T>G | CA412275295 | ARSL | c.1646A>C (p.Gln549Pro) c.1721A>C (p.Gln574Pro) c.1523A>C (p.Gln508Pro) c.1085A>C (p.Gln362Pro) n.1426A>C c.1634A>C (p.Gln545Pro) c.1199A>C (p.Gln400Pro) c.1484A>C (p.Gln495Pro) c.1643A>C (p.Gln548Pro) c.1511A>C (p.Gln504Pro) c.1673A>C (p.Gln558Pro) c.1160A>C (p.Gln387Pro) | |
X | g.2934956T= | CA2412580525 | ARSL | c.1646A= (p.Gln549=) c.1721A= (p.Gln574=) c.1523A= (p.Gln508=) c.1085A= (p.Gln362=) n.1426A= c.1634A= (p.Gln545=) c.1199A= (p.Gln400=) c.1484A= (p.Gln495=) c.1643A= (p.Gln548=) c.1511A= (p.Gln504=) c.1673A= (p.Gln558=) c.1160A= (p.Gln387=) | |
X | g.2934957G>A | CA412275297 | ARSL | c.1645C>T (p.Gln549Ter) c.1720C>T (p.Gln574Ter) c.1522C>T (p.Gln508Ter) c.1084C>T (p.Gln362Ter) n.1425C>T c.1633C>T (p.Gln545Ter) c.1198C>T (p.Gln400Ter) c.1483C>T (p.Gln495Ter) c.1642C>T (p.Gln548Ter) c.1510C>T (p.Gln504Ter) c.1672C>T (p.Gln558Ter) c.1159C>T (p.Gln387Ter) | |
X | g.2934957G>C | CA412275298 | ARSL | c.1645C>G (p.Gln549Glu) c.1720C>G (p.Gln574Glu) c.1522C>G (p.Gln508Glu) c.1084C>G (p.Gln362Glu) n.1425C>G c.1633C>G (p.Gln545Glu) c.1198C>G (p.Gln400Glu) c.1483C>G (p.Gln495Glu) c.1642C>G (p.Gln548Glu) c.1510C>G (p.Gln504Glu) c.1672C>G (p.Gln558Glu) c.1159C>G (p.Gln387Glu) | |
X | g.2934957G>T | CA412275299 | ARSL | c.1645C>A (p.Gln549Lys) c.1720C>A (p.Gln574Lys) c.1522C>A (p.Gln508Lys) c.1084C>A (p.Gln362Lys) n.1425C>A c.1633C>A (p.Gln545Lys) c.1198C>A (p.Gln400Lys) c.1483C>A (p.Gln495Lys) c.1642C>A (p.Gln548Lys) c.1510C>A (p.Gln504Lys) c.1672C>A (p.Gln558Lys) c.1159C>A (p.Gln387Lys) | |
X | g.2934958G>A | CA515396510 | ARSL | c.1644C>T (p.His548=) c.1719C>T (p.His573=) c.1521C>T (p.His507=) c.1083C>T (p.His361=) n.1424C>T c.1632C>T (p.His544=) c.1197C>T (p.His399=) c.1482C>T (p.His494=) c.1641C>T (p.His547=) c.1509C>T (p.His503=) c.1671C>T (p.His557=) c.1158C>T (p.His386=) | |
X | g.2934958G>C | CA412275300 | ARSL | c.1644C>G (p.His548Gln) c.1719C>G (p.His573Gln) c.1521C>G (p.His507Gln) c.1083C>G (p.His361Gln) n.1424C>G c.1632C>G (p.His544Gln) c.1197C>G (p.His399Gln) c.1482C>G (p.His494Gln) c.1641C>G (p.His547Gln) c.1509C>G (p.His503Gln) c.1671C>G (p.His557Gln) c.1158C>G (p.His386Gln) | |
X | g.2934958G>T | CA412275301 | ARSL | c.1644C>A (p.His548Gln) c.1719C>A (p.His573Gln) c.1521C>A (p.His507Gln) c.1083C>A (p.His361Gln) n.1424C>A c.1632C>A (p.His544Gln) c.1197C>A (p.His399Gln) c.1482C>A (p.His494Gln) c.1641C>A (p.His547Gln) c.1509C>A (p.His503Gln) c.1671C>A (p.His557Gln) c.1158C>A (p.His386Gln) | |
X | g.2934959T>A | CA412275302 | ARSL | c.1643A>T (p.His548Leu) c.1718A>T (p.His573Leu) c.1520A>T (p.His507Leu) c.1082A>T (p.His361Leu) n.1423A>T c.1631A>T (p.His544Leu) c.1196A>T (p.His399Leu) c.1481A>T (p.His494Leu) c.1640A>T (p.His547Leu) c.1508A>T (p.His503Leu) c.1670A>T (p.His557Leu) c.1157A>T (p.His386Leu) | ClinVar dbSNP gnomAD v4 |
X | g.2934959T>C | CA412275303 | ARSL | c.1643A>G (p.His548Arg) c.1718A>G (p.His573Arg) c.1520A>G (p.His507Arg) c.1082A>G (p.His361Arg) n.1423A>G c.1631A>G (p.His544Arg) c.1196A>G (p.His399Arg) c.1481A>G (p.His494Arg) c.1640A>G (p.His547Arg) c.1508A>G (p.His503Arg) c.1670A>G (p.His557Arg) c.1157A>G (p.His386Arg) | |
X | g.2934959T>G | CA412275304 | ARSL | c.1643A>C (p.His548Pro) c.1718A>C (p.His573Pro) c.1520A>C (p.His507Pro) c.1082A>C (p.His361Pro) n.1423A>C c.1631A>C (p.His544Pro) c.1196A>C (p.His399Pro) c.1481A>C (p.His494Pro) c.1640A>C (p.His547Pro) c.1508A>C (p.His503Pro) c.1670A>C (p.His557Pro) c.1157A>C (p.His386Pro) | |
X | g.2934960G>A | CA412275305 | ARSL | c.1642C>T (p.His548Tyr) c.1717C>T (p.His573Tyr) c.1519C>T (p.His507Tyr) c.1081C>T (p.His361Tyr) n.1422C>T c.1630C>T (p.His544Tyr) c.1195C>T (p.His399Tyr) c.1480C>T (p.His494Tyr) c.1639C>T (p.His547Tyr) c.1507C>T (p.His503Tyr) c.1669C>T (p.His557Tyr) c.1156C>T (p.His386Tyr) | |
X | g.2934960G>C | CA412275306 | ARSL | c.1642C>G (p.His548Asp) c.1717C>G (p.His573Asp) c.1519C>G (p.His507Asp) c.1081C>G (p.His361Asp) n.1422C>G c.1630C>G (p.His544Asp) c.1195C>G (p.His399Asp) c.1480C>G (p.His494Asp) c.1639C>G (p.His547Asp) c.1507C>G (p.His503Asp) c.1669C>G (p.His557Asp) c.1156C>G (p.His386Asp) | |
X | g.2934960G>T | CA412275307 | ARSL | c.1642C>A (p.His548Asn) c.1717C>A (p.His573Asn) c.1519C>A (p.His507Asn) c.1081C>A (p.His361Asn) n.1422C>A c.1630C>A (p.His544Asn) c.1195C>A (p.His399Asn) c.1480C>A (p.His494Asn) c.1639C>A (p.His547Asn) c.1507C>A (p.His503Asn) c.1669C>A (p.His557Asn) c.1156C>A (p.His386Asn) | |
X | g.2934961T>A | CA412275308 | ARSL | c.1641A>T (p.Glu547Asp) c.1716A>T (p.Glu572Asp) c.1518A>T (p.Glu506Asp) c.1080A>T (p.Glu360Asp) n.1421A>T c.1629A>T (p.Glu543Asp) c.1194A>T (p.Glu398Asp) c.1479A>T (p.Glu493Asp) c.1638A>T (p.Glu546Asp) c.1506A>T (p.Glu502Asp) c.1668A>T (p.Glu556Asp) c.1155A>T (p.Glu385Asp) | |
X | g.2934961T>C | CA515396516 | ARSL | c.1641A>G (p.Glu547=) c.1716A>G (p.Glu572=) c.1518A>G (p.Glu506=) c.1080A>G (p.Glu360=) n.1421A>G c.1629A>G (p.Glu543=) c.1194A>G (p.Glu398=) c.1479A>G (p.Glu493=) c.1638A>G (p.Glu546=) c.1506A>G (p.Glu502=) c.1668A>G (p.Glu556=) c.1155A>G (p.Glu385=) | |
X | g.2934961T>G | CA412275309 | ARSL | c.1641A>C (p.Glu547Asp) c.1716A>C (p.Glu572Asp) c.1518A>C (p.Glu506Asp) c.1080A>C (p.Glu360Asp) n.1421A>C c.1629A>C (p.Glu543Asp) c.1194A>C (p.Glu398Asp) c.1479A>C (p.Glu493Asp) c.1638A>C (p.Glu546Asp) c.1506A>C (p.Glu502Asp) c.1668A>C (p.Glu556Asp) c.1155A>C (p.Glu385Asp) | |
X | g.2934962T>A | CA412275310 | ARSL | c.1640A>T (p.Glu547Val) c.1715A>T (p.Glu572Val) c.1517A>T (p.Glu506Val) c.1079A>T (p.Glu360Val) n.1420A>T c.1628A>T (p.Glu543Val) c.1193A>T (p.Glu398Val) c.1478A>T (p.Glu493Val) c.1637A>T (p.Glu546Val) c.1505A>T (p.Glu502Val) c.1667A>T (p.Glu556Val) c.1154A>T (p.Glu385Val) | |
X | g.2934962T>C | CA412275313 | ARSL | c.1640A>G (p.Glu547Gly) c.1715A>G (p.Glu572Gly) c.1517A>G (p.Glu506Gly) c.1079A>G (p.Glu360Gly) n.1420A>G c.1628A>G (p.Glu543Gly) c.1193A>G (p.Glu398Gly) c.1478A>G (p.Glu493Gly) c.1637A>G (p.Glu546Gly) c.1505A>G (p.Glu502Gly) c.1667A>G (p.Glu556Gly) c.1154A>G (p.Glu385Gly) | |
X | g.2934962T>G | CA412275311 | ARSL | c.1640A>C (p.Glu547Ala) c.1715A>C (p.Glu572Ala) c.1517A>C (p.Glu506Ala) c.1079A>C (p.Glu360Ala) n.1420A>C c.1628A>C (p.Glu543Ala) c.1193A>C (p.Glu398Ala) c.1478A>C (p.Glu493Ala) c.1637A>C (p.Glu546Ala) c.1505A>C (p.Glu502Ala) c.1667A>C (p.Glu556Ala) c.1154A>C (p.Glu385Ala) | |
X | g.2934963C>A | CA412275314 | ARSL | c.1639G>T (p.Glu547Ter) c.1714G>T (p.Glu572Ter) c.1516G>T (p.Glu506Ter) c.1078G>T (p.Glu360Ter) n.1419G>T c.1627G>T (p.Glu543Ter) c.1192G>T (p.Glu398Ter) c.1477G>T (p.Glu493Ter) c.1636G>T (p.Glu546Ter) c.1504G>T (p.Glu502Ter) c.1666G>T (p.Glu556Ter) c.1153G>T (p.Glu385Ter) | |
X | g.2934963C>G | CA412275315 | ARSL | c.1639G>C (p.Glu547Gln) c.1714G>C (p.Glu572Gln) c.1516G>C (p.Glu506Gln) c.1078G>C (p.Glu360Gln) n.1419G>C c.1627G>C (p.Glu543Gln) c.1192G>C (p.Glu398Gln) c.1477G>C (p.Glu493Gln) c.1636G>C (p.Glu546Gln) c.1504G>C (p.Glu502Gln) c.1666G>C (p.Glu556Gln) c.1153G>C (p.Glu385Gln) | |
X | g.2934963C>T | CA412275316 | ARSL | c.1639G>A (p.Glu547Lys) c.1714G>A (p.Glu572Lys) c.1516G>A (p.Glu506Lys) c.1078G>A (p.Glu360Lys) n.1419G>A c.1627G>A (p.Glu543Lys) c.1192G>A (p.Glu398Lys) c.1477G>A (p.Glu493Lys) c.1636G>A (p.Glu546Lys) c.1504G>A (p.Glu502Lys) c.1666G>A (p.Glu556Lys) c.1153G>A (p.Glu385Lys) | |
X | g.2934964C>A | CA412275317 | ARSL | c.1638G>T (p.Trp546Cys) c.1713G>T (p.Trp571Cys) c.1515G>T (p.Trp505Cys) c.1077G>T (p.Trp359Cys) n.1418G>T c.1626G>T (p.Trp542Cys) c.1191G>T (p.Trp397Cys) c.1476G>T (p.Trp492Cys) c.1635G>T (p.Trp545Cys) c.1503G>T (p.Trp501Cys) c.1665G>T (p.Trp555Cys) c.1152G>T (p.Trp384Cys) | |
X | g.2934964C= | CA2412580526 | ARSL | c.1638G= (p.Trp546=) c.1713G= (p.Trp571=) c.1515G= (p.Trp505=) c.1077G= (p.Trp359=) n.1418G= c.1626G= (p.Trp542=) c.1191G= (p.Trp397=) c.1476G= (p.Trp492=) c.1635G= (p.Trp545=) c.1503G= (p.Trp501=) c.1665G= (p.Trp555=) c.1152G= (p.Trp384=) | |
X | g.2934964C>G | CA412275318 | ARSL | c.1638G>C (p.Trp546Cys) c.1713G>C (p.Trp571Cys) c.1515G>C (p.Trp505Cys) c.1077G>C (p.Trp359Cys) n.1418G>C c.1626G>C (p.Trp542Cys) c.1191G>C (p.Trp397Cys) c.1476G>C (p.Trp492Cys) c.1635G>C (p.Trp545Cys) c.1503G>C (p.Trp501Cys) c.1665G>C (p.Trp555Cys) c.1152G>C (p.Trp384Cys) | |
X | g.2934964C>T | CA412275319 | ARSL | c.1638G>A (p.Trp546Ter) c.1713G>A (p.Trp571Ter) c.1515G>A (p.Trp505Ter) c.1077G>A (p.Trp359Ter) n.1418G>A c.1626G>A (p.Trp542Ter) c.1191G>A (p.Trp397Ter) c.1476G>A (p.Trp492Ter) c.1635G>A (p.Trp545Ter) c.1503G>A (p.Trp501Ter) c.1665G>A (p.Trp555Ter) c.1152G>A (p.Trp384Ter) | dbSNP |
X | g.2934965C>A | CA412275320 | ARSL | c.1637G>T (p.Trp546Leu) c.1712G>T (p.Trp571Leu) c.1514G>T (p.Trp505Leu) c.1076G>T (p.Trp359Leu) n.1417G>T c.1625G>T (p.Trp542Leu) c.1190G>T (p.Trp397Leu) c.1475G>T (p.Trp492Leu) c.1634G>T (p.Trp545Leu) c.1502G>T (p.Trp501Leu) c.1664G>T (p.Trp555Leu) c.1151G>T (p.Trp384Leu) | |
X | g.2934965C>G | CA412275321 | ARSL | c.1637G>C (p.Trp546Ser) c.1712G>C (p.Trp571Ser) c.1514G>C (p.Trp505Ser) c.1076G>C (p.Trp359Ser) n.1417G>C c.1625G>C (p.Trp542Ser) c.1190G>C (p.Trp397Ser) c.1475G>C (p.Trp492Ser) c.1634G>C (p.Trp545Ser) c.1502G>C (p.Trp501Ser) c.1664G>C (p.Trp555Ser) c.1151G>C (p.Trp384Ser) | |
X | g.2934965C>T | CA412275322 | ARSL | c.1637G>A (p.Trp546Ter) c.1712G>A (p.Trp571Ter) c.1514G>A (p.Trp505Ter) c.1076G>A (p.Trp359Ter) n.1417G>A c.1625G>A (p.Trp542Ter) c.1190G>A (p.Trp397Ter) c.1475G>A (p.Trp492Ter) c.1634G>A (p.Trp545Ter) c.1502G>A (p.Trp501Ter) c.1664G>A (p.Trp555Ter) c.1151G>A (p.Trp384Ter) | |
X | g.2934966A>C | CA412275325 | ARSL | c.1636T>G (p.Trp546Gly) c.1711T>G (p.Trp571Gly) c.1513T>G (p.Trp505Gly) c.1075T>G (p.Trp359Gly) n.1416T>G c.1624T>G (p.Trp542Gly) c.1189T>G (p.Trp397Gly) c.1474T>G (p.Trp492Gly) c.1633T>G (p.Trp545Gly) c.1501T>G (p.Trp501Gly) c.1663T>G (p.Trp555Gly) c.1150T>G (p.Trp384Gly) | |
X | g.2934966A>G | CA412275324 | ARSL | c.1636T>C (p.Trp546Arg) c.1711T>C (p.Trp571Arg) c.1513T>C (p.Trp505Arg) c.1075T>C (p.Trp359Arg) n.1416T>C c.1624T>C (p.Trp542Arg) c.1189T>C (p.Trp397Arg) c.1474T>C (p.Trp492Arg) c.1633T>C (p.Trp545Arg) c.1501T>C (p.Trp501Arg) c.1663T>C (p.Trp555Arg) c.1150T>C (p.Trp384Arg) | |
X | g.2934966A>T | CA412275323 | ARSL | c.1636T>A (p.Trp546Arg) c.1711T>A (p.Trp571Arg) c.1513T>A (p.Trp505Arg) c.1075T>A (p.Trp359Arg) n.1416T>A c.1624T>A (p.Trp542Arg) c.1189T>A (p.Trp397Arg) c.1474T>A (p.Trp492Arg) c.1633T>A (p.Trp545Arg) c.1501T>A (p.Trp501Arg) c.1663T>A (p.Trp555Arg) c.1150T>A (p.Trp384Arg) | |
X | g.2934967C>A | CA515396524 | ARSL | c.1635G>T (p.Val545=) c.1710G>T (p.Val570=) c.1512G>T (p.Val504=) c.1074G>T (p.Val358=) n.1415G>T c.1623G>T (p.Val541=) c.1188G>T (p.Val396=) c.1473G>T (p.Val491=) c.1632G>T (p.Val544=) c.1500G>T (p.Val500=) c.1662G>T (p.Val554=) c.1149G>T (p.Val383=) | |
X | g.2934967C>G | CA515396526 | ARSL | c.1635G>C (p.Val545=) c.1710G>C (p.Val570=) c.1512G>C (p.Val504=) c.1074G>C (p.Val358=) n.1415G>C c.1623G>C (p.Val541=) c.1188G>C (p.Val396=) c.1473G>C (p.Val491=) c.1632G>C (p.Val544=) c.1500G>C (p.Val500=) c.1662G>C (p.Val554=) c.1149G>C (p.Val383=) | |
X | g.2934967C>T | CA515396529 | ARSL | c.1635G>A (p.Val545=) c.1710G>A (p.Val570=) c.1512G>A (p.Val504=) c.1074G>A (p.Val358=) n.1415G>A c.1623G>A (p.Val541=) c.1188G>A (p.Val396=) c.1473G>A (p.Val491=) c.1632G>A (p.Val544=) c.1500G>A (p.Val500=) c.1662G>A (p.Val554=) c.1149G>A (p.Val383=) | ClinVar gnomAD v4 |
X | g.2934968A>C | CA412275326 | ARSL | c.1634T>G (p.Val545Gly) c.1709T>G (p.Val570Gly) c.1511T>G (p.Val504Gly) c.1073T>G (p.Val358Gly) n.1414T>G c.1622T>G (p.Val541Gly) c.1187T>G (p.Val396Gly) c.1472T>G (p.Val491Gly) c.1631T>G (p.Val544Gly) c.1499T>G (p.Val500Gly) c.1661T>G (p.Val554Gly) c.1148T>G (p.Val383Gly) | |
X | g.2934968A>G | CA412275327 | ARSL | c.1634T>C (p.Val545Ala) c.1709T>C (p.Val570Ala) c.1511T>C (p.Val504Ala) c.1073T>C (p.Val358Ala) n.1414T>C c.1622T>C (p.Val541Ala) c.1187T>C (p.Val396Ala) c.1472T>C (p.Val491Ala) c.1631T>C (p.Val544Ala) c.1499T>C (p.Val500Ala) c.1661T>C (p.Val554Ala) c.1148T>C (p.Val383Ala) | |
X | g.2934968A>T | CA412275328 | ARSL | c.1634T>A (p.Val545Glu) c.1709T>A (p.Val570Glu) c.1511T>A (p.Val504Glu) c.1073T>A (p.Val358Glu) n.1414T>A c.1622T>A (p.Val541Glu) c.1187T>A (p.Val396Glu) c.1472T>A (p.Val491Glu) c.1631T>A (p.Val544Glu) c.1499T>A (p.Val500Glu) c.1661T>A (p.Val554Glu) c.1148T>A (p.Val383Glu) | |
X | g.2934969C>A | CA412275329 | ARSL | c.1633G>T (p.Val545Leu) c.1708G>T (p.Val570Leu) c.1510G>T (p.Val504Leu) c.1072G>T (p.Val358Leu) n.1413G>T c.1621G>T (p.Val541Leu) c.1186G>T (p.Val396Leu) c.1471G>T (p.Val491Leu) c.1630G>T (p.Val544Leu) c.1498G>T (p.Val500Leu) c.1660G>T (p.Val554Leu) c.1147G>T (p.Val383Leu) | |
X | g.2934969C= | CA2412580527 | ARSL | c.1633G= (p.Val545=) c.1708G= (p.Val570=) c.1510G= (p.Val504=) c.1072G= (p.Val358=) n.1413G= c.1621G= (p.Val541=) c.1186G= (p.Val396=) c.1471G= (p.Val491=) c.1630G= (p.Val544=) c.1498G= (p.Val500=) c.1660G= (p.Val554=) c.1147G= (p.Val383=) | |
X | g.2934969C>G | CA412275330 | ARSL | c.1633G>C (p.Val545Leu) c.1708G>C (p.Val570Leu) c.1510G>C (p.Val504Leu) c.1072G>C (p.Val358Leu) n.1413G>C c.1621G>C (p.Val541Leu) c.1186G>C (p.Val396Leu) c.1471G>C (p.Val491Leu) c.1630G>C (p.Val544Leu) c.1498G>C (p.Val500Leu) c.1660G>C (p.Val554Leu) c.1147G>C (p.Val383Leu) | |
X | g.2934969C>T | CA10337977 | ARSL | c.1633G>A (p.Val545Met) c.1708G>A (p.Val570Met) c.1510G>A (p.Val504Met) c.1072G>A (p.Val358Met) n.1413G>A c.1621G>A (p.Val541Met) c.1186G>A (p.Val396Met) c.1471G>A (p.Val491Met) c.1630G>A (p.Val544Met) c.1498G>A (p.Val500Met) c.1660G>A (p.Val554Met) c.1147G>A (p.Val383Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.2934970C>A | CA515396534 | ARSL | c.1632G>T (p.Ala544=) c.1707G>T (p.Ala569=) c.1509G>T (p.Ala503=) c.1071G>T (p.Ala357=) n.1412G>T c.1620G>T (p.Ala540=) c.1185G>T (p.Ala395=) c.1470G>T (p.Ala490=) c.1629G>T (p.Ala543=) c.1497G>T (p.Ala499=) c.1659G>T (p.Ala553=) c.1146G>T (p.Ala382=) | |
X | g.2934970C= | CA2412580528 | ARSL | c.1632G= (p.Ala544=) c.1707G= (p.Ala569=) c.1509G= (p.Ala503=) c.1071G= (p.Ala357=) n.1412G= c.1620G= (p.Ala540=) c.1185G= (p.Ala395=) c.1470G= (p.Ala490=) c.1629G= (p.Ala543=) c.1497G= (p.Ala499=) c.1659G= (p.Ala553=) c.1146G= (p.Ala382=) | |
X | g.2934970C>G | CA515396537 | ARSL | c.1632G>C (p.Ala544=) c.1707G>C (p.Ala569=) c.1509G>C (p.Ala503=) c.1071G>C (p.Ala357=) n.1412G>C c.1620G>C (p.Ala540=) c.1185G>C (p.Ala395=) c.1470G>C (p.Ala490=) c.1629G>C (p.Ala543=) c.1497G>C (p.Ala499=) c.1659G>C (p.Ala553=) c.1146G>C (p.Ala382=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.2934970C>T | CA10337978 | ARSL | c.1632G>A (p.Ala544=) c.1707G>A (p.Ala569=) c.1509G>A (p.Ala503=) c.1071G>A (p.Ala357=) n.1412G>A c.1620G>A (p.Ala540=) c.1185G>A (p.Ala395=) c.1470G>A (p.Ala490=) c.1629G>A (p.Ala543=) c.1497G>A (p.Ala499=) c.1659G>A (p.Ala553=) c.1146G>A (p.Ala382=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |