UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.2934867G>A | CA412275103 | ARSL | c.1735C>T (p.Leu579Phe) c.1810C>T (p.Leu604Phe) c.1612C>T (p.Leu538Phe) c.1174C>T (p.Leu392Phe) n.1515C>T c.1723C>T (p.Leu575Phe) c.1288C>T (p.Leu430Phe) c.1573C>T (p.Leu525Phe) c.1732C>T (p.Leu578Phe) c.1600C>T (p.Leu534Phe) c.1762C>T (p.Leu588Phe) c.1249C>T (p.Leu417Phe) | |
| X | g.2934867G>C | CA10337969 | ARSL | c.1735C>G (p.Leu579Val) c.1810C>G (p.Leu604Val) c.1612C>G (p.Leu538Val) c.1174C>G (p.Leu392Val) n.1515C>G c.1723C>G (p.Leu575Val) c.1288C>G (p.Leu430Val) c.1573C>G (p.Leu525Val) c.1732C>G (p.Leu578Val) c.1600C>G (p.Leu534Val) c.1762C>G (p.Leu588Val) c.1249C>G (p.Leu417Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.2934867G= | CA2412580498 | ARSL | c.1735C= (p.Leu579=) c.1810C= (p.Leu604=) c.1612C= (p.Leu538=) c.1174C= (p.Leu392=) n.1515C= c.1723C= (p.Leu575=) c.1288C= (p.Leu430=) c.1573C= (p.Leu525=) c.1732C= (p.Leu578=) c.1600C= (p.Leu534=) c.1762C= (p.Leu588=) c.1249C= (p.Leu417=) | |
| X | g.2934867G>T | CA412275104 | ARSL | c.1735C>A (p.Leu579Ile) c.1810C>A (p.Leu604Ile) c.1612C>A (p.Leu538Ile) c.1174C>A (p.Leu392Ile) n.1515C>A c.1723C>A (p.Leu575Ile) c.1288C>A (p.Leu430Ile) c.1573C>A (p.Leu525Ile) c.1732C>A (p.Leu578Ile) c.1600C>A (p.Leu534Ile) c.1762C>A (p.Leu588Ile) c.1249C>A (p.Leu417Ile) | |
| X | g.2934868G>A | CA515396315 | ARSL | c.1734C>T (p.Pro578=) c.1809C>T (p.Pro603=) c.1611C>T (p.Pro537=) c.1173C>T (p.Pro391=) n.1514C>T c.1722C>T (p.Pro574=) c.1287C>T (p.Pro429=) c.1572C>T (p.Pro524=) c.1731C>T (p.Pro577=) c.1599C>T (p.Pro533=) c.1761C>T (p.Pro587=) c.1248C>T (p.Pro416=) | |
| X | g.2934868G>C | CA515396316 | ARSL | c.1734C>G (p.Pro578=) c.1809C>G (p.Pro603=) c.1611C>G (p.Pro537=) c.1173C>G (p.Pro391=) n.1514C>G c.1722C>G (p.Pro574=) c.1287C>G (p.Pro429=) c.1572C>G (p.Pro524=) c.1731C>G (p.Pro577=) c.1599C>G (p.Pro533=) c.1761C>G (p.Pro587=) c.1248C>G (p.Pro416=) | |
| X | g.2934868G>T | CA515396317 | ARSL | c.1734C>A (p.Pro578=) c.1809C>A (p.Pro603=) c.1611C>A (p.Pro537=) c.1173C>A (p.Pro391=) n.1514C>A c.1722C>A (p.Pro574=) c.1287C>A (p.Pro429=) c.1572C>A (p.Pro524=) c.1731C>A (p.Pro577=) c.1599C>A (p.Pro533=) c.1761C>A (p.Pro587=) c.1248C>A (p.Pro416=) | |
| X | g.2934869G>A | CA412275107 | ARSL | c.1733C>T (p.Pro578Leu) c.1808C>T (p.Pro603Leu) c.1610C>T (p.Pro537Leu) c.1172C>T (p.Pro391Leu) n.1513C>T c.1721C>T (p.Pro574Leu) c.1286C>T (p.Pro429Leu) c.1571C>T (p.Pro524Leu) c.1730C>T (p.Pro577Leu) c.1598C>T (p.Pro533Leu) c.1760C>T (p.Pro587Leu) c.1247C>T (p.Pro416Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.2934869G>C | CA412275106 | ARSL | c.1733C>G (p.Pro578Arg) c.1808C>G (p.Pro603Arg) c.1610C>G (p.Pro537Arg) c.1172C>G (p.Pro391Arg) n.1513C>G c.1721C>G (p.Pro574Arg) c.1286C>G (p.Pro429Arg) c.1571C>G (p.Pro524Arg) c.1730C>G (p.Pro577Arg) c.1598C>G (p.Pro533Arg) c.1760C>G (p.Pro587Arg) c.1247C>G (p.Pro416Arg) | |
| X | g.2934869G= | CA2412580499 | ARSL | c.1733C= (p.Pro578=) c.1808C= (p.Pro603=) c.1610C= (p.Pro537=) c.1172C= (p.Pro391=) n.1513C= c.1721C= (p.Pro574=) c.1286C= (p.Pro429=) c.1571C= (p.Pro524=) c.1730C= (p.Pro577=) c.1598C= (p.Pro533=) c.1760C= (p.Pro587=) c.1247C= (p.Pro416=) | |
| X | g.2934869G>T | CA412275105 | ARSL | c.1733C>A (p.Pro578His) c.1808C>A (p.Pro603His) c.1610C>A (p.Pro537His) c.1172C>A (p.Pro391His) n.1513C>A c.1721C>A (p.Pro574His) c.1286C>A (p.Pro429His) c.1571C>A (p.Pro524His) c.1730C>A (p.Pro577His) c.1598C>A (p.Pro533His) c.1760C>A (p.Pro587His) c.1247C>A (p.Pro416His) | |
| X | g.2934870G>A | CA341096 | ARSL | c.1732C>T (p.Pro578Ser) c.1807C>T (p.Pro603Ser) c.1609C>T (p.Pro537Ser) c.1171C>T (p.Pro391Ser) n.1512C>T c.1720C>T (p.Pro574Ser) c.1285C>T (p.Pro429Ser) c.1570C>T (p.Pro524Ser) c.1729C>T (p.Pro577Ser) c.1597C>T (p.Pro533Ser) c.1759C>T (p.Pro587Ser) c.1246C>T (p.Pro416Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.2934870G>C | CA412275109 | ARSL | c.1732C>G (p.Pro578Ala) c.1807C>G (p.Pro603Ala) c.1609C>G (p.Pro537Ala) c.1171C>G (p.Pro391Ala) n.1512C>G c.1720C>G (p.Pro574Ala) c.1285C>G (p.Pro429Ala) c.1570C>G (p.Pro524Ala) c.1729C>G (p.Pro577Ala) c.1597C>G (p.Pro533Ala) c.1759C>G (p.Pro587Ala) c.1246C>G (p.Pro416Ala) | |
| X | g.2934870G= | CA2412580500 | ARSL | c.1732C= (p.Pro578=) c.1807C= (p.Pro603=) c.1609C= (p.Pro537=) c.1171C= (p.Pro391=) n.1512C= c.1720C= (p.Pro574=) c.1285C= (p.Pro429=) c.1570C= (p.Pro524=) c.1729C= (p.Pro577=) c.1597C= (p.Pro533=) c.1759C= (p.Pro587=) c.1246C= (p.Pro416=) | |
| X | g.2934870G>T | CA412275108 | ARSL | c.1732C>A (p.Pro578Thr) c.1807C>A (p.Pro603Thr) c.1609C>A (p.Pro537Thr) c.1171C>A (p.Pro391Thr) n.1512C>A c.1720C>A (p.Pro574Thr) c.1285C>A (p.Pro429Thr) c.1570C>A (p.Pro524Thr) c.1729C>A (p.Pro577Thr) c.1597C>A (p.Pro533Thr) c.1759C>A (p.Pro587Thr) c.1246C>A (p.Pro416Thr) | |
| X | g.2934871G>A | CA515396318 | ARSL | c.1731C>T (p.Phe577=) c.1806C>T (p.Phe602=) c.1608C>T (p.Phe536=) c.1170C>T (p.Phe390=) n.1511C>T c.1719C>T (p.Phe573=) c.1284C>T (p.Phe428=) c.1569C>T (p.Phe523=) c.1728C>T (p.Phe576=) c.1596C>T (p.Phe532=) c.1758C>T (p.Phe586=) c.1245C>T (p.Phe415=) | gnomAD v4 |
| X | g.2934871G>C | CA412275110 | ARSL | c.1731C>G (p.Phe577Leu) c.1806C>G (p.Phe602Leu) c.1608C>G (p.Phe536Leu) c.1170C>G (p.Phe390Leu) n.1511C>G c.1719C>G (p.Phe573Leu) c.1284C>G (p.Phe428Leu) c.1569C>G (p.Phe523Leu) c.1728C>G (p.Phe576Leu) c.1596C>G (p.Phe532Leu) c.1758C>G (p.Phe586Leu) c.1245C>G (p.Phe415Leu) | |
| X | g.2934871G>T | CA412275111 | ARSL | c.1731C>A (p.Phe577Leu) c.1806C>A (p.Phe602Leu) c.1608C>A (p.Phe536Leu) c.1170C>A (p.Phe390Leu) n.1511C>A c.1719C>A (p.Phe573Leu) c.1284C>A (p.Phe428Leu) c.1569C>A (p.Phe523Leu) c.1728C>A (p.Phe576Leu) c.1596C>A (p.Phe532Leu) c.1758C>A (p.Phe586Leu) c.1245C>A (p.Phe415Leu) | gnomAD v4 |
| X | g.2934872A>C | CA412275112 | ARSL | c.1730T>G (p.Phe577Cys) c.1805T>G (p.Phe602Cys) c.1607T>G (p.Phe536Cys) c.1169T>G (p.Phe390Cys) n.1510T>G c.1718T>G (p.Phe573Cys) c.1283T>G (p.Phe428Cys) c.1568T>G (p.Phe523Cys) c.1727T>G (p.Phe576Cys) c.1595T>G (p.Phe532Cys) c.1757T>G (p.Phe586Cys) c.1244T>G (p.Phe415Cys) | |
| X | g.2934872A>G | CA412275113 | ARSL | c.1730T>C (p.Phe577Ser) c.1805T>C (p.Phe602Ser) c.1607T>C (p.Phe536Ser) c.1169T>C (p.Phe390Ser) n.1510T>C c.1718T>C (p.Phe573Ser) c.1283T>C (p.Phe428Ser) c.1568T>C (p.Phe523Ser) c.1727T>C (p.Phe576Ser) c.1595T>C (p.Phe532Ser) c.1757T>C (p.Phe586Ser) c.1244T>C (p.Phe415Ser) | |
| X | g.2934872A>T | CA412275114 | ARSL | c.1730T>A (p.Phe577Tyr) c.1805T>A (p.Phe602Tyr) c.1607T>A (p.Phe536Tyr) c.1169T>A (p.Phe390Tyr) n.1510T>A c.1718T>A (p.Phe573Tyr) c.1283T>A (p.Phe428Tyr) c.1568T>A (p.Phe523Tyr) c.1727T>A (p.Phe576Tyr) c.1595T>A (p.Phe532Tyr) c.1757T>A (p.Phe586Tyr) c.1244T>A (p.Phe415Tyr) | |
| X | g.2934873A>C | CA412275115 | ARSL | c.1729T>G (p.Phe577Val) c.1804T>G (p.Phe602Val) c.1606T>G (p.Phe536Val) c.1168T>G (p.Phe390Val) n.1509T>G c.1717T>G (p.Phe573Val) c.1282T>G (p.Phe428Val) c.1567T>G (p.Phe523Val) c.1726T>G (p.Phe576Val) c.1594T>G (p.Phe532Val) c.1756T>G (p.Phe586Val) c.1243T>G (p.Phe415Val) | |
| X | g.2934873A>G | CA412275116 | ARSL | c.1729T>C (p.Phe577Leu) c.1804T>C (p.Phe602Leu) c.1606T>C (p.Phe536Leu) c.1168T>C (p.Phe390Leu) n.1509T>C c.1717T>C (p.Phe573Leu) c.1282T>C (p.Phe428Leu) c.1567T>C (p.Phe523Leu) c.1726T>C (p.Phe576Leu) c.1594T>C (p.Phe532Leu) c.1756T>C (p.Phe586Leu) c.1243T>C (p.Phe415Leu) | |
| X | g.2934873A>T | CA412275117 | ARSL | c.1729T>A (p.Phe577Ile) c.1804T>A (p.Phe602Ile) c.1606T>A (p.Phe536Ile) c.1168T>A (p.Phe390Ile) n.1509T>A c.1717T>A (p.Phe573Ile) c.1282T>A (p.Phe428Ile) c.1567T>A (p.Phe523Ile) c.1726T>A (p.Phe576Ile) c.1594T>A (p.Phe532Ile) c.1756T>A (p.Phe586Ile) c.1243T>A (p.Phe415Ile) | |
| X | g.2934874C>A | CA515396322 | ARSL | c.1728G>T (p.Pro576=) c.1803G>T (p.Pro601=) c.1605G>T (p.Pro535=) c.1167G>T (p.Pro389=) n.1508G>T c.1716G>T (p.Pro572=) c.1281G>T (p.Pro427=) c.1566G>T (p.Pro522=) c.1725G>T (p.Pro575=) c.1593G>T (p.Pro531=) c.1755G>T (p.Pro585=) c.1242G>T (p.Pro414=) | gnomAD v4 |
| X | g.2934874C= | CA2412580501 | ARSL | c.1728G= (p.Pro576=) c.1803G= (p.Pro601=) c.1605G= (p.Pro535=) c.1167G= (p.Pro389=) n.1508G= c.1716G= (p.Pro572=) c.1281G= (p.Pro427=) c.1566G= (p.Pro522=) c.1725G= (p.Pro575=) c.1593G= (p.Pro531=) c.1755G= (p.Pro585=) c.1242G= (p.Pro414=) | |
| X | g.2934874C>G | CA515396325 | ARSL | c.1728G>C (p.Pro576=) c.1803G>C (p.Pro601=) c.1605G>C (p.Pro535=) c.1167G>C (p.Pro389=) n.1508G>C c.1716G>C (p.Pro572=) c.1281G>C (p.Pro427=) c.1566G>C (p.Pro522=) c.1725G>C (p.Pro575=) c.1593G>C (p.Pro531=) c.1755G>C (p.Pro585=) c.1242G>C (p.Pro414=) | |
| X | g.2934874C>T | CA171126 | ARSL | c.1728G>A (p.Pro576=) c.1803G>A (p.Pro601=) c.1605G>A (p.Pro535=) c.1167G>A (p.Pro389=) n.1508G>A c.1716G>A (p.Pro572=) c.1281G>A (p.Pro427=) c.1566G>A (p.Pro522=) c.1725G>A (p.Pro575=) c.1593G>A (p.Pro531=) c.1755G>A (p.Pro585=) c.1242G>A (p.Pro414=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.2934875G>A | CA325999087 | ARSL | c.1727C>T (p.Pro576Leu) c.1802C>T (p.Pro601Leu) c.1604C>T (p.Pro535Leu) c.1166C>T (p.Pro389Leu) n.1507C>T c.1715C>T (p.Pro572Leu) c.1280C>T (p.Pro427Leu) c.1565C>T (p.Pro522Leu) c.1724C>T (p.Pro575Leu) c.1592C>T (p.Pro531Leu) c.1754C>T (p.Pro585Leu) c.1241C>T (p.Pro414Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.2934875G>C | CA412275118 | ARSL | c.1727C>G (p.Pro576Arg) c.1802C>G (p.Pro601Arg) c.1604C>G (p.Pro535Arg) c.1166C>G (p.Pro389Arg) n.1507C>G c.1715C>G (p.Pro572Arg) c.1280C>G (p.Pro427Arg) c.1565C>G (p.Pro522Arg) c.1724C>G (p.Pro575Arg) c.1592C>G (p.Pro531Arg) c.1754C>G (p.Pro585Arg) c.1241C>G (p.Pro414Arg) | |
| X | g.2934875G= | CA2412580502 | ARSL | c.1727C= (p.Pro576=) c.1802C= (p.Pro601=) c.1604C= (p.Pro535=) c.1166C= (p.Pro389=) n.1507C= c.1715C= (p.Pro572=) c.1280C= (p.Pro427=) c.1565C= (p.Pro522=) c.1724C= (p.Pro575=) c.1592C= (p.Pro531=) c.1754C= (p.Pro585=) c.1241C= (p.Pro414=) | |
| X | g.2934875G>T | CA412275119 | ARSL | c.1727C>A (p.Pro576Gln) c.1802C>A (p.Pro601Gln) c.1604C>A (p.Pro535Gln) c.1166C>A (p.Pro389Gln) n.1507C>A c.1715C>A (p.Pro572Gln) c.1280C>A (p.Pro427Gln) c.1565C>A (p.Pro522Gln) c.1724C>A (p.Pro575Gln) c.1592C>A (p.Pro531Gln) c.1754C>A (p.Pro585Gln) c.1241C>A (p.Pro414Gln) | gnomAD v4 |
| X | g.2934876G>A | CA412275122 | ARSL | c.1726C>T (p.Pro576Ser) c.1801C>T (p.Pro601Ser) c.1603C>T (p.Pro535Ser) c.1165C>T (p.Pro389Ser) n.1506C>T c.1714C>T (p.Pro572Ser) c.1279C>T (p.Pro427Ser) c.1564C>T (p.Pro522Ser) c.1723C>T (p.Pro575Ser) c.1591C>T (p.Pro531Ser) c.1753C>T (p.Pro585Ser) c.1240C>T (p.Pro414Ser) | gnomAD v4 |
| X | g.2934876G>C | CA412275120 | ARSL | c.1726C>G (p.Pro576Ala) c.1801C>G (p.Pro601Ala) c.1603C>G (p.Pro535Ala) c.1165C>G (p.Pro389Ala) n.1506C>G c.1714C>G (p.Pro572Ala) c.1279C>G (p.Pro427Ala) c.1564C>G (p.Pro522Ala) c.1723C>G (p.Pro575Ala) c.1591C>G (p.Pro531Ala) c.1753C>G (p.Pro585Ala) c.1240C>G (p.Pro414Ala) | |
| X | g.2934876G>T | CA412275121 | ARSL | c.1726C>A (p.Pro576Thr) c.1801C>A (p.Pro601Thr) c.1603C>A (p.Pro535Thr) c.1165C>A (p.Pro389Thr) n.1506C>A c.1714C>A (p.Pro572Thr) c.1279C>A (p.Pro427Thr) c.1564C>A (p.Pro522Thr) c.1723C>A (p.Pro575Thr) c.1591C>A (p.Pro531Thr) c.1753C>A (p.Pro585Thr) c.1240C>A (p.Pro414Thr) | |
| X | g.2934877G>A | CA515396326 | ARSL | c.1725C>T (p.Gly575=) c.1800C>T (p.Gly600=) c.1602C>T (p.Gly534=) c.1164C>T (p.Gly388=) n.1505C>T c.1713C>T (p.Gly571=) c.1278C>T (p.Gly426=) c.1563C>T (p.Gly521=) c.1722C>T (p.Gly574=) c.1590C>T (p.Gly530=) c.1752C>T (p.Gly584=) c.1239C>T (p.Gly413=) | |
| X | g.2934877G>C | CA515396327 | ARSL | c.1725C>G (p.Gly575=) c.1800C>G (p.Gly600=) c.1602C>G (p.Gly534=) c.1164C>G (p.Gly388=) n.1505C>G c.1713C>G (p.Gly571=) c.1278C>G (p.Gly426=) c.1563C>G (p.Gly521=) c.1722C>G (p.Gly574=) c.1590C>G (p.Gly530=) c.1752C>G (p.Gly584=) c.1239C>G (p.Gly413=) | |
| X | g.2934877G>T | CA515396328 | ARSL | c.1725C>A (p.Gly575=) c.1800C>A (p.Gly600=) c.1602C>A (p.Gly534=) c.1164C>A (p.Gly388=) n.1505C>A c.1713C>A (p.Gly571=) c.1278C>A (p.Gly426=) c.1563C>A (p.Gly521=) c.1722C>A (p.Gly574=) c.1590C>A (p.Gly530=) c.1752C>A (p.Gly584=) c.1239C>A (p.Gly413=) | |
| X | g.2934878C>A | CA412275123 | ARSL | c.1724G>T (p.Gly575Val) c.1799G>T (p.Gly600Val) c.1601G>T (p.Gly534Val) c.1163G>T (p.Gly388Val) n.1504G>T c.1712G>T (p.Gly571Val) c.1277G>T (p.Gly426Val) c.1562G>T (p.Gly521Val) c.1721G>T (p.Gly574Val) c.1589G>T (p.Gly530Val) c.1751G>T (p.Gly584Val) c.1238G>T (p.Gly413Val) | gnomAD v4 |
| X | g.2934878C>G | CA412275124 | ARSL | c.1724G>C (p.Gly575Ala) c.1799G>C (p.Gly600Ala) c.1601G>C (p.Gly534Ala) c.1163G>C (p.Gly388Ala) n.1504G>C c.1712G>C (p.Gly571Ala) c.1277G>C (p.Gly426Ala) c.1562G>C (p.Gly521Ala) c.1721G>C (p.Gly574Ala) c.1589G>C (p.Gly530Ala) c.1751G>C (p.Gly584Ala) c.1238G>C (p.Gly413Ala) | |
| X | g.2934878C>T | CA412275125 | ARSL | c.1724G>A (p.Gly575Asp) c.1799G>A (p.Gly600Asp) c.1601G>A (p.Gly534Asp) c.1163G>A (p.Gly388Asp) n.1504G>A c.1712G>A (p.Gly571Asp) c.1277G>A (p.Gly426Asp) c.1562G>A (p.Gly521Asp) c.1721G>A (p.Gly574Asp) c.1589G>A (p.Gly530Asp) c.1751G>A (p.Gly584Asp) c.1238G>A (p.Gly413Asp) | |
| X | g.2934879C>A | CA412275126 | ARSL | c.1723G>T (p.Gly575Cys) c.1798G>T (p.Gly600Cys) c.1600G>T (p.Gly534Cys) c.1162G>T (p.Gly388Cys) n.1503G>T c.1711G>T (p.Gly571Cys) c.1276G>T (p.Gly426Cys) c.1561G>T (p.Gly521Cys) c.1720G>T (p.Gly574Cys) c.1588G>T (p.Gly530Cys) c.1750G>T (p.Gly584Cys) c.1237G>T (p.Gly413Cys) | |
| X | g.2934879C>G | CA412275127 | ARSL | c.1723G>C (p.Gly575Arg) c.1798G>C (p.Gly600Arg) c.1600G>C (p.Gly534Arg) c.1162G>C (p.Gly388Arg) n.1503G>C c.1711G>C (p.Gly571Arg) c.1276G>C (p.Gly426Arg) c.1561G>C (p.Gly521Arg) c.1720G>C (p.Gly574Arg) c.1588G>C (p.Gly530Arg) c.1750G>C (p.Gly584Arg) c.1237G>C (p.Gly413Arg) | |
| X | g.2934879C>T | CA412275128 | ARSL | c.1723G>A (p.Gly575Ser) c.1798G>A (p.Gly600Ser) c.1600G>A (p.Gly534Ser) c.1162G>A (p.Gly388Ser) n.1503G>A c.1711G>A (p.Gly571Ser) c.1276G>A (p.Gly426Ser) c.1561G>A (p.Gly521Ser) c.1720G>A (p.Gly574Ser) c.1588G>A (p.Gly530Ser) c.1750G>A (p.Gly584Ser) c.1237G>A (p.Gly413Ser) | gnomAD v4 |
| X | g.2934880A>C | CA412275129 | ARSL | c.1722T>G (p.Cys574Trp) c.1797T>G (p.Cys599Trp) c.1599T>G (p.Cys533Trp) c.1161T>G (p.Cys387Trp) n.1502T>G c.1710T>G (p.Cys570Trp) c.1275T>G (p.Cys425Trp) c.1560T>G (p.Cys520Trp) c.1719T>G (p.Cys573Trp) c.1587T>G (p.Cys529Trp) c.1749T>G (p.Cys583Trp) c.1236T>G (p.Cys412Trp) | |
| X | g.2934880A>G | CA515396336 | ARSL | c.1722T>C (p.Cys574=) c.1797T>C (p.Cys599=) c.1599T>C (p.Cys533=) c.1161T>C (p.Cys387=) n.1502T>C c.1710T>C (p.Cys570=) c.1275T>C (p.Cys425=) c.1560T>C (p.Cys520=) c.1719T>C (p.Cys573=) c.1587T>C (p.Cys529=) c.1749T>C (p.Cys583=) c.1236T>C (p.Cys412=) | |
| X | g.2934880A>T | CA412275130 | ARSL | c.1722T>A (p.Cys574Ter) c.1797T>A (p.Cys599Ter) c.1599T>A (p.Cys533Ter) c.1161T>A (p.Cys387Ter) n.1502T>A c.1710T>A (p.Cys570Ter) c.1275T>A (p.Cys425Ter) c.1560T>A (p.Cys520Ter) c.1719T>A (p.Cys573Ter) c.1587T>A (p.Cys529Ter) c.1749T>A (p.Cys583Ter) c.1236T>A (p.Cys412Ter) | |
| X | g.2934881C>A | CA412275131 | ARSL | c.1721G>T (p.Cys574Phe) c.1796G>T (p.Cys599Phe) c.1598G>T (p.Cys533Phe) c.1160G>T (p.Cys387Phe) n.1501G>T c.1709G>T (p.Cys570Phe) c.1274G>T (p.Cys425Phe) c.1559G>T (p.Cys520Phe) c.1718G>T (p.Cys573Phe) c.1586G>T (p.Cys529Phe) c.1748G>T (p.Cys583Phe) c.1235G>T (p.Cys412Phe) | |
| X | g.2934881C>G | CA412275132 | ARSL | c.1721G>C (p.Cys574Ser) c.1796G>C (p.Cys599Ser) c.1598G>C (p.Cys533Ser) c.1160G>C (p.Cys387Ser) n.1501G>C c.1709G>C (p.Cys570Ser) c.1274G>C (p.Cys425Ser) c.1559G>C (p.Cys520Ser) c.1718G>C (p.Cys573Ser) c.1586G>C (p.Cys529Ser) c.1748G>C (p.Cys583Ser) c.1235G>C (p.Cys412Ser) | |
| X | g.2934881C>T | CA412275133 | ARSL | c.1721G>A (p.Cys574Tyr) c.1796G>A (p.Cys599Tyr) c.1598G>A (p.Cys533Tyr) c.1160G>A (p.Cys387Tyr) n.1501G>A c.1709G>A (p.Cys570Tyr) c.1274G>A (p.Cys425Tyr) c.1559G>A (p.Cys520Tyr) c.1718G>A (p.Cys573Tyr) c.1586G>A (p.Cys529Tyr) c.1748G>A (p.Cys583Tyr) c.1235G>A (p.Cys412Tyr) |