Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.2934870G>ACA341096ARSLc.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
Xg.2934870G>CCA412275109ARSLc.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)
Xg.2934870G=CA2412580500ARSLc.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=)
Xg.2934870G>TCA412275108ARSLc.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)
Xg.2934871G>ACA515396318ARSLc.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
Xg.2934871G>CCA412275110ARSLc.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)
Xg.2934871G>TCA412275111ARSLc.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
Xg.2934872A>CCA412275112ARSLc.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)
Xg.2934872A>GCA412275113ARSLc.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)
Xg.2934872A>TCA412275114ARSLc.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)
Xg.2934873A>CCA412275115ARSLc.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)
Xg.2934873A>GCA412275116ARSLc.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)
Xg.2934873A>TCA412275117ARSLc.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)
Xg.2934874C>ACA515396322ARSLc.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
Xg.2934874C=CA2412580501ARSLc.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=)
Xg.2934874C>GCA515396325ARSLc.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=)
Xg.2934874C>TCA171126ARSLc.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
Xg.2934875G>ACA325999087ARSLc.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
Xg.2934875G>CCA412275118ARSLc.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)
Xg.2934875G=CA2412580502ARSLc.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=)
Xg.2934875G>TCA412275119ARSLc.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
Xg.2934876G>ACA412275122ARSLc.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
Xg.2934876G>CCA412275120ARSLc.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)
Xg.2934876G>TCA412275121ARSLc.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)
Xg.2934877G>ACA515396326ARSLc.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=)
Xg.2934877G>CCA515396327ARSLc.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=)
Xg.2934877G>TCA515396328ARSLc.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=)
Xg.2934878C>ACA412275123ARSLc.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
Xg.2934878C>GCA412275124ARSLc.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)
Xg.2934878C>TCA412275125ARSLc.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)
Xg.2934879C>ACA412275126ARSLc.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)
Xg.2934879C>GCA412275127ARSLc.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)
Xg.2934879C>TCA412275128ARSLc.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
Xg.2934880A>CCA412275129ARSLc.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)
Xg.2934880A>GCA515396336ARSLc.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=)
Xg.2934880A>TCA412275130ARSLc.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)
Xg.2934881C>ACA412275131ARSLc.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)
Xg.2934881C>GCA412275132ARSLc.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)
Xg.2934881C>TCA412275133ARSLc.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)
Xg.2934882A>CCA412275135ARSLc.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)
Xg.2934882A>GCA412275136ARSLc.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)
Xg.2934882A>TCA412275134ARSLc.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)
Xg.2934883G>ACA515396342ARSLc.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
Xg.2934883G>CCA412275137ARSLc.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)
Xg.2934883G>TCA412275138ARSLc.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)
Xg.2934884C>ACA412275139ARSLc.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
Xg.2934884C>GCA412275140ARSLc.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)
Xg.2934884C>TCA412275141ARSLc.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
Xg.2934885A>CCA412275142ARSLc.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)
Xg.2934885A>GCA412275143ARSLc.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)
Xg.2934885A>TCA412275144ARSLc.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)
Xg.2934886G>ACA515396347ARSLc.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
Xg.2934886G>CCA515396348ARSLc.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=)
Xg.2934886G=CA2412580503ARSLc.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=)
Xg.2934886G>TCA515396353ARSLc.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=)
Xg.2934887G>ACA412275145ARSLc.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)
Xg.2934887G>CCA412275146ARSLc.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)
Xg.2934887G>TCA412275147ARSLc.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
Xg.2934888G>ACA412275148ARSLc.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)
Xg.2934888G>CCA412275149ARSLc.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)
Xg.2934888G>TCA412275150ARSLc.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)
Xg.2934889C>ACA412275151ARSLc.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
Xg.2934889C>GCA412275152ARSLc.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)
Xg.2934889C>TCA515396360ARSLc.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=)
Xg.2934890T>ACA412275153ARSLc.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)
Xg.2934890T>CCA412275154ARSLc.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)
Xg.2934890T>GCA412275155ARSLc.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)
Xg.2934891G>ACA10603720ARSLc.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
Xg.2934891G>CCA412275156ARSLc.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
Xg.2934891G=CA2412580504ARSLc.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=)
Xg.2934891G>TCA412275157ARSLc.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)
Xg.2934892C>ACA515396363ARSLc.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
Xg.2934892C>GCA515396364ARSLc.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=)
Xg.2934892C>TCA515396365ARSLc.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=)
Xg.2934893A>CCA412275158ARSLc.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)
Xg.2934893A>GCA412275159ARSLc.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)
Xg.2934893A>TCA412275160ARSLc.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)
Xg.2934894G>ACA515396366ARSLc.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
Xg.2934894G>CCA412275161ARSLc.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)
Xg.2934894G>TCA412275162ARSLc.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)
Xg.2934895C>ACA412275163ARSLc.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)
Xg.2934895C>GCA412275164ARSLc.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)
Xg.2934895C>TCA412275165ARSLc.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
Xg.2934896C>ACA412275168ARSLc.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)
Xg.2934896C>GCA412275167ARSLc.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)
Xg.2934896C>TCA412275166ARSLc.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)
Xg.2934897A>CCA412275170ARSLc.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)
Xg.2934897A>GCA412275169ARSLc.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)
Xg.2934897A>TCA412275171ARSLc.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)
Xg.2934898C>ACA515396373ARSLc.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=)
Xg.2934898C=CA2412580505ARSLc.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=)
Xg.2934898C>GCA515396374ARSLc.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=)
Xg.2934898C>TCA10337970ARSLc.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
Xg.2934899G>ACA412275173ARSLc.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
Xg.2934899G>CCA412275172ARSLc.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)
Xg.2934899G>TCA412275174ARSLc.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)
Xg.2934900G>ACA412275175ARSLc.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
Xg.2934900G>CCA412275177ARSLc.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)
Xg.2934900G>TCA412275176ARSLc.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)
Xg.2934901T>ACA412275178ARSLc.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)
Xg.2934901T>CCA515396379ARSLc.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=)
Xg.2934901T>GCA412275179ARSLc.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)
Xg.2934902C>ACA412275180ARSLc.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
Xg.2934902C=CA2412580506ARSLc.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=)
Xg.2934902C>GCA412275181ARSLc.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)
Xg.2934902C>TCA10337971ARSLc.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
Xg.2934903T>ACA412275182ARSLc.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)
Xg.2934903T>CCA412275183ARSLc.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)
Xg.2934903T>GCA515396382ARSLc.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=)
Xg.2934904C>ACA412275184ARSLc.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)
Xg.2934904C>GCA412275185ARSLc.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)
Xg.2934904C>TCA412275186ARSLc.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)
Xg.2934905C>ACA412275187ARSLc.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)
Xg.2934905C>GCA412275188ARSLc.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)
Xg.2934905C>TCA412275189ARSLc.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)
Xg.2934906A>CCA412275190ARSLc.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)
Xg.2934906A>GCA412275192ARSLc.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)
Xg.2934906A>TCA412275191ARSLc.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)
Xg.2934907G>ACA515396388ARSLc.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=)
Xg.2934907G>CCA412275193ARSLc.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)
Xg.2934907G>TCA515396389ARSLc.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=)
Xg.2934908A=CA2412580507ARSLc.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=)
Xg.2934908A>CCA10337972ARSLc.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
Xg.2934908A>GCA412275194ARSLc.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)
Xg.2934908A>TCA412275195ARSLc.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)
Xg.2934909T>ACA412275196ARSLc.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)
Xg.2934909T>CCA412275197ARSLc.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)
Xg.2934909T>GCA412275198ARSLc.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)
Xg.2934910G>ACA171124ARSLc.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
Xg.2934910G>CCA412275199ARSLc.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
Xg.2934910G=CA2412580508ARSLc.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=)
Xg.2934910G>TCA412275200ARSLc.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)
Xg.2934911T>ACA412275203ARSLc.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)
Xg.2934911T>CCA412275202ARSLc.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)
Xg.2934911T>GCA412275201ARSLc.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)
Xg.2934912T>ACA412275206ARSLc.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)
Xg.2934912T>CCA412275204ARSLc.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)
Xg.2934912T>GCA412275205ARSLc.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)
Xg.2934913G>ACA515396398ARSLc.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=)
Xg.2934913G>CCA515396400ARSLc.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
Xg.2934913G>TCA515396402ARSLc.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=)
Xg.2934914C>ACA412275207ARSLc.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
Xg.2934914C>GCA412275208ARSLc.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)
Xg.2934914C>TCA412275209ARSLc.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)
Xg.2934915C>ACA412275210ARSLc.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
Xg.2934915C>GCA412275211ARSLc.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)
Xg.2934915C>TCA412275212ARSLc.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)
Xg.2934916C>ACA515396403ARSLc.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=)
Xg.2934916C=CA2412580509ARSLc.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=)
Xg.2934916C>GCA16608417ARSLc.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
Xg.2934916C>TCA515396404ARSLc.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=)
Xg.2934917A>CCA412275213ARSLc.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)
Xg.2934917A>GCA412275214ARSLc.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)
Xg.2934917A>TCA412275215ARSLc.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)
Xg.2934918G>ACA515396407ARSLc.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=)
Xg.2934918G>CCA412275216ARSLc.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)
Xg.2934918G>TCA412275217ARSLc.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)
Xg.2934919C>ACA412275219ARSLc.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)
Xg.2934919C>GCA412275218ARSLc.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)
Xg.2934919C>TCA515396410ARSLc.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=)
Xg.2934920C>ACA412275220ARSLc.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)
Xg.2934920C>GCA412275221ARSLc.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)
Xg.2934920C>TCA412275222ARSLc.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)
Xg.2934921T>ACA412275223ARSLc.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)
Xg.2934921T>CCA412275224ARSLc.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
Xg.2934921T>GCA515396415ARSLc.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=)
Xg.2934921T=CA2412580510ARSLc.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=)
Xg.2934922G>ACA515396416ARSLc.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=)
Xg.2934922G>CCA412275225ARSLc.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)
Xg.2934922G>TCA412275226ARSLc.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)
Xg.2934923T>ACA412275227ARSLc.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)
Xg.2934923T>CCA412275228ARSLc.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)
Xg.2934923T>GCA412275229ARSLc.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)
Xg.2934924C>ACA412275230ARSLc.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)
Xg.2934924C>GCA412275231ARSLc.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)
Xg.2934924C>TCA412275232ARSLc.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)
Xg.2934925C>ACA515396427ARSLc.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=)
Xg.2934925C>GCA515396426ARSLc.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=)
Xg.2934925C>TCA515396423ARSLc.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
Xg.2934926A>CCA412275234ARSLc.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)
Xg.2934926A>GCA412275235ARSLc.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)
Xg.2934926A>TCA412275233ARSLc.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)
Xg.2934927G>ACA515396429ARSLc.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=)
Xg.2934927G>CCA10337973ARSLc.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
Xg.2934927G=CA2412580511ARSLc.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=)
Xg.2934927G>TCA412275236ARSLc.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)
Xg.2934928C>ACA412275237ARSLc.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
Xg.2934928C>GCA412275238ARSLc.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)
Xg.2934928C>TCA515396430ARSLc.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=)
Xg.2934929T>ACA412275239ARSLc.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)
Xg.2934929T>CCA412275240ARSLc.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)
Xg.2934929T>GCA412275241ARSLc.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)
Xg.2934930G>ACA412275242ARSLc.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)
Xg.2934930G>CCA412275243ARSLc.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)
Xg.2934930G=CA2412580512ARSLc.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=)
Xg.2934930G>TCA412275244ARSLc.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
Xg.2934931C>ACA515396436ARSLc.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
Xg.2934931C>GCA515396441ARSLc.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=)
Xg.2934931C>TCA515396438ARSLc.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=)
Xg.2934932A>CCA412275245ARSLc.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)
Xg.2934932A>GCA412275246ARSLc.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
Xg.2934932A>TCA412275247ARSLc.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)
Xg.2934933G>ACA515396444ARSLc.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=)
Xg.2934933G>CCA412275249ARSLc.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)
Xg.2934933G>TCA412275248ARSLc.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)
Xg.2934934A>CCA515396446ARSLc.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=)
Xg.2934934A>GCA515396447ARSLc.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=)
Xg.2934934A>TCA515396448ARSLc.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=)
Xg.2934935G>ACA412275250ARSLc.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)
Xg.2934935G>CCA412275251ARSLc.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)
Xg.2934935G>TCA412275252ARSLc.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)
Xg.2934936G>ACA412275253ARSLc.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
Xg.2934936G>CCA412275254ARSLc.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)
Xg.2934936G=CA2412580513ARSLc.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=)
Xg.2934936G>TCA412275255ARSLc.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)
Xg.2934937A=CA2412580514ARSLc.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=)
Xg.2934937A>CCA515396450ARSLc.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=)
Xg.2934937A>GCA515396452ARSLc.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
Xg.2934937A>TCA515396453ARSLc.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=)
Xg.2934938A>CCA412275256ARSLc.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
Xg.2934938A>GCA412275257ARSLc.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)
Xg.2934938A>TCA412275258ARSLc.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)
Xg.2934939C>ACA412275259ARSLc.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)
Xg.2934939C=CA2412580515ARSLc.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=)
Xg.2934939C>GCA412275260ARSLc.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
Xg.2934939C>TCA412275261ARSLc.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
Xg.2934940T>ACA515396461ARSLc.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
Xg.2934940T>CCA515396465ARSLc.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=)
Xg.2934940T>GCA515396467ARSLc.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=)
Xg.2934940T=CA2412580516ARSLc.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=)
Xg.2934941G>ACA412275263ARSLc.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)
Xg.2934941G>CCA412275264ARSLc.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)
Xg.2934941G=CA2412580517ARSLc.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=)
Xg.2934941G>TCA412275262ARSLc.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
Xg.2934942G>ACA412275265ARSLc.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
Xg.2934942G>CCA412275266ARSLc.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
Xg.2934942G=CA2412580518ARSLc.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=)
Xg.2934942G>TCA412275267ARSLc.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)
Xg.2934943G>ACA515396480ARSLc.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
Xg.2934943G>CCA412275268ARSLc.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)
Xg.2934943G=CA2412580519ARSLc.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=)
Xg.2934943G>TCA412275269ARSLc.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
Xg.2934944C>ACA412275270ARSLc.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)
Xg.2934944C>GCA412275271ARSLc.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)
Xg.2934944C>TCA412275272ARSLc.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)
Xg.2934945T>ACA412275273ARSLc.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)
Xg.2934945T>CCA412275274ARSLc.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)
Xg.2934945T>GCA412275275ARSLc.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
Xg.2934945T=CA2412580520ARSLc.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=)
Xg.2934946G>ACA10337974ARSLc.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
Xg.2934946G>CCA515396487ARSLc.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=)
Xg.2934946G=CA2412580521ARSLc.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=)
Xg.2934946G>TCA515396488ARSLc.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=)
Xg.2934947A>CCA412275278ARSLc.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)
Xg.2934947A>GCA412275276ARSLc.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)
Xg.2934947A>TCA412275277ARSLc.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)
Xg.2934948G>ACA412275279ARSLc.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)
Xg.2934948G>CCA412275280ARSLc.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)
Xg.2934948G>TCA412275281ARSLc.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)
Xg.2934949T>ACA10337975ARSLc.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
Xg.2934949T>CCA515396496ARSLc.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=)
Xg.2934949T>GCA515396497ARSLc.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=)
Xg.2934949T=CA2412580522ARSLc.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=)
Xg.2934950G>ACA412275282ARSLc.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)
Xg.2934950G>CCA412275283ARSLc.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)
Xg.2934950G>TCA412275284ARSLc.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)
Xg.2934951T>ACA412275285ARSLc.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)
Xg.2934951T>CCA10337976ARSLc.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
Xg.2934951T>GCA412275286ARSLc.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)
Xg.2934951T=CA2412580523ARSLc.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=)
Xg.2934952C>ACA515396503ARSLc.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=)
Xg.2934952C>GCA515396502ARSLc.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=)
Xg.2934952C>TCA515396500ARSLc.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
Xg.2934953C>ACA412275287ARSLc.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
Xg.2934953C=CA2412580524ARSLc.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=)
Xg.2934953C>GCA412275288ARSLc.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)
Xg.2934953C>TCA412275289ARSLc.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
Xg.2934954G>ACA412275291ARSLc.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
Xg.2934954G>CCA412275290ARSLc.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)
Xg.2934954G>TCA515396504ARSLc.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=)
Xg.2934955C>ACA412275292ARSLc.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)
Xg.2934955C>GCA412275293ARSLc.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)
Xg.2934955C>TCA515396506ARSLc.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
Xg.2934956T>ACA412275294ARSLc.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)
Xg.2934956T>CCA412275296ARSLc.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
Xg.2934956T>GCA412275295ARSLc.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)
Xg.2934956T=CA2412580525ARSLc.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=)
Xg.2934957G>ACA412275297ARSLc.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)
Xg.2934957G>CCA412275298ARSLc.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)
Xg.2934957G>TCA412275299ARSLc.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)
Xg.2934958G>ACA515396510ARSLc.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=)
Xg.2934958G>CCA412275300ARSLc.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)
Xg.2934958G>TCA412275301ARSLc.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)
Xg.2934959T>ACA412275302ARSLc.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
Xg.2934959T>CCA412275303ARSLc.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)
Xg.2934959T>GCA412275304ARSLc.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)
Xg.2934960G>ACA412275305ARSLc.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)
Xg.2934960G>CCA412275306ARSLc.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)
Xg.2934960G>TCA412275307ARSLc.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)
Xg.2934961T>ACA412275308ARSLc.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)
Xg.2934961T>CCA515396516ARSLc.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=)
Xg.2934961T>GCA412275309ARSLc.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)
Xg.2934962T>ACA412275310ARSLc.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)
Xg.2934962T>CCA412275313ARSLc.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)
Xg.2934962T>GCA412275311ARSLc.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)
Xg.2934963C>ACA412275314ARSLc.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)
Xg.2934963C>GCA412275315ARSLc.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)
Xg.2934963C>TCA412275316ARSLc.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)
Xg.2934964C>ACA412275317ARSLc.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)
Xg.2934964C=CA2412580526ARSLc.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=)
Xg.2934964C>GCA412275318ARSLc.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)
Xg.2934964C>TCA412275319ARSLc.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
Xg.2934965C>ACA412275320ARSLc.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)
Xg.2934965C>GCA412275321ARSLc.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)
Xg.2934965C>TCA412275322ARSLc.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)
Xg.2934966A>CCA412275325ARSLc.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)
Xg.2934966A>GCA412275324ARSLc.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)
Xg.2934966A>TCA412275323ARSLc.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)
Xg.2934967C>ACA515396524ARSLc.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=)
Xg.2934967C>GCA515396526ARSLc.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=)
Xg.2934967C>TCA515396529ARSLc.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
Xg.2934968A>CCA412275326ARSLc.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)
Xg.2934968A>GCA412275327ARSLc.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)
Xg.2934968A>TCA412275328ARSLc.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)
Xg.2934969C>ACA412275329ARSLc.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)
Xg.2934969C=CA2412580527ARSLc.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=)
Xg.2934969C>GCA412275330ARSLc.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)
Xg.2934969C>TCA10337977ARSLc.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
Xg.2934970C>ACA515396534ARSLc.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=)
Xg.2934970C=CA2412580528ARSLc.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=)
Xg.2934970C>GCA515396537ARSLc.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
Xg.2934970C>TCA10337978ARSLc.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

Number of alleles fetched