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.2934872A>C | CA412275112 | ARSL | c.1730T>G (p.Phe577Cys) c.1805T>G (p.Phe602Cys) c.1607T>G (p.Phe536Cys) c.1169T>G (p.Phe390Cys) n.1510T>G c.1718T>G (p.Phe573Cys) c.1283T>G (p.Phe428Cys) c.1568T>G (p.Phe523Cys) c.1727T>G (p.Phe576Cys) c.1595T>G (p.Phe532Cys) c.1757T>G (p.Phe586Cys) c.1244T>G (p.Phe415Cys) | |
| X | g.2934872A>G | CA412275113 | ARSL | c.1730T>C (p.Phe577Ser) c.1805T>C (p.Phe602Ser) c.1607T>C (p.Phe536Ser) c.1169T>C (p.Phe390Ser) n.1510T>C c.1718T>C (p.Phe573Ser) c.1283T>C (p.Phe428Ser) c.1568T>C (p.Phe523Ser) c.1727T>C (p.Phe576Ser) c.1595T>C (p.Phe532Ser) c.1757T>C (p.Phe586Ser) c.1244T>C (p.Phe415Ser) | |
| X | g.2934872A>T | CA412275114 | ARSL | c.1730T>A (p.Phe577Tyr) c.1805T>A (p.Phe602Tyr) c.1607T>A (p.Phe536Tyr) c.1169T>A (p.Phe390Tyr) n.1510T>A c.1718T>A (p.Phe573Tyr) c.1283T>A (p.Phe428Tyr) c.1568T>A (p.Phe523Tyr) c.1727T>A (p.Phe576Tyr) c.1595T>A (p.Phe532Tyr) c.1757T>A (p.Phe586Tyr) c.1244T>A (p.Phe415Tyr) | |
| X | g.2934873A>C | CA412275115 | ARSL | c.1729T>G (p.Phe577Val) c.1804T>G (p.Phe602Val) c.1606T>G (p.Phe536Val) c.1168T>G (p.Phe390Val) n.1509T>G c.1717T>G (p.Phe573Val) c.1282T>G (p.Phe428Val) c.1567T>G (p.Phe523Val) c.1726T>G (p.Phe576Val) c.1594T>G (p.Phe532Val) c.1756T>G (p.Phe586Val) c.1243T>G (p.Phe415Val) | |
| X | g.2934873A>G | CA412275116 | ARSL | c.1729T>C (p.Phe577Leu) c.1804T>C (p.Phe602Leu) c.1606T>C (p.Phe536Leu) c.1168T>C (p.Phe390Leu) n.1509T>C c.1717T>C (p.Phe573Leu) c.1282T>C (p.Phe428Leu) c.1567T>C (p.Phe523Leu) c.1726T>C (p.Phe576Leu) c.1594T>C (p.Phe532Leu) c.1756T>C (p.Phe586Leu) c.1243T>C (p.Phe415Leu) | |
| X | g.2934873A>T | CA412275117 | ARSL | c.1729T>A (p.Phe577Ile) c.1804T>A (p.Phe602Ile) c.1606T>A (p.Phe536Ile) c.1168T>A (p.Phe390Ile) n.1509T>A c.1717T>A (p.Phe573Ile) c.1282T>A (p.Phe428Ile) c.1567T>A (p.Phe523Ile) c.1726T>A (p.Phe576Ile) c.1594T>A (p.Phe532Ile) c.1756T>A (p.Phe586Ile) c.1243T>A (p.Phe415Ile) | |
| X | g.2934874C>A | CA515396322 | ARSL | c.1728G>T (p.Pro576=) c.1803G>T (p.Pro601=) c.1605G>T (p.Pro535=) c.1167G>T (p.Pro389=) n.1508G>T c.1716G>T (p.Pro572=) c.1281G>T (p.Pro427=) c.1566G>T (p.Pro522=) c.1725G>T (p.Pro575=) c.1593G>T (p.Pro531=) c.1755G>T (p.Pro585=) c.1242G>T (p.Pro414=) | gnomAD v4 |
| X | g.2934874C= | CA2412580501 | ARSL | c.1728G= (p.Pro576=) c.1803G= (p.Pro601=) c.1605G= (p.Pro535=) c.1167G= (p.Pro389=) n.1508G= c.1716G= (p.Pro572=) c.1281G= (p.Pro427=) c.1566G= (p.Pro522=) c.1725G= (p.Pro575=) c.1593G= (p.Pro531=) c.1755G= (p.Pro585=) c.1242G= (p.Pro414=) | |
| X | g.2934874C>G | CA515396325 | ARSL | c.1728G>C (p.Pro576=) c.1803G>C (p.Pro601=) c.1605G>C (p.Pro535=) c.1167G>C (p.Pro389=) n.1508G>C c.1716G>C (p.Pro572=) c.1281G>C (p.Pro427=) c.1566G>C (p.Pro522=) c.1725G>C (p.Pro575=) c.1593G>C (p.Pro531=) c.1755G>C (p.Pro585=) c.1242G>C (p.Pro414=) | |
| X | g.2934874C>T | CA171126 | ARSL | c.1728G>A (p.Pro576=) c.1803G>A (p.Pro601=) c.1605G>A (p.Pro535=) c.1167G>A (p.Pro389=) n.1508G>A c.1716G>A (p.Pro572=) c.1281G>A (p.Pro427=) c.1566G>A (p.Pro522=) c.1725G>A (p.Pro575=) c.1593G>A (p.Pro531=) c.1755G>A (p.Pro585=) c.1242G>A (p.Pro414=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.2934875G>A | CA325999087 | ARSL | c.1727C>T (p.Pro576Leu) c.1802C>T (p.Pro601Leu) c.1604C>T (p.Pro535Leu) c.1166C>T (p.Pro389Leu) n.1507C>T c.1715C>T (p.Pro572Leu) c.1280C>T (p.Pro427Leu) c.1565C>T (p.Pro522Leu) c.1724C>T (p.Pro575Leu) c.1592C>T (p.Pro531Leu) c.1754C>T (p.Pro585Leu) c.1241C>T (p.Pro414Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.2934875G>C | CA412275118 | ARSL | c.1727C>G (p.Pro576Arg) c.1802C>G (p.Pro601Arg) c.1604C>G (p.Pro535Arg) c.1166C>G (p.Pro389Arg) n.1507C>G c.1715C>G (p.Pro572Arg) c.1280C>G (p.Pro427Arg) c.1565C>G (p.Pro522Arg) c.1724C>G (p.Pro575Arg) c.1592C>G (p.Pro531Arg) c.1754C>G (p.Pro585Arg) c.1241C>G (p.Pro414Arg) | |
| X | g.2934875G= | CA2412580502 | ARSL | c.1727C= (p.Pro576=) c.1802C= (p.Pro601=) c.1604C= (p.Pro535=) c.1166C= (p.Pro389=) n.1507C= c.1715C= (p.Pro572=) c.1280C= (p.Pro427=) c.1565C= (p.Pro522=) c.1724C= (p.Pro575=) c.1592C= (p.Pro531=) c.1754C= (p.Pro585=) c.1241C= (p.Pro414=) | |
| X | g.2934875G>T | CA412275119 | ARSL | c.1727C>A (p.Pro576Gln) c.1802C>A (p.Pro601Gln) c.1604C>A (p.Pro535Gln) c.1166C>A (p.Pro389Gln) n.1507C>A c.1715C>A (p.Pro572Gln) c.1280C>A (p.Pro427Gln) c.1565C>A (p.Pro522Gln) c.1724C>A (p.Pro575Gln) c.1592C>A (p.Pro531Gln) c.1754C>A (p.Pro585Gln) c.1241C>A (p.Pro414Gln) | gnomAD v4 |
| X | g.2934876G>A | CA412275122 | ARSL | c.1726C>T (p.Pro576Ser) c.1801C>T (p.Pro601Ser) c.1603C>T (p.Pro535Ser) c.1165C>T (p.Pro389Ser) n.1506C>T c.1714C>T (p.Pro572Ser) c.1279C>T (p.Pro427Ser) c.1564C>T (p.Pro522Ser) c.1723C>T (p.Pro575Ser) c.1591C>T (p.Pro531Ser) c.1753C>T (p.Pro585Ser) c.1240C>T (p.Pro414Ser) | gnomAD v4 |
| X | g.2934876G>C | CA412275120 | ARSL | c.1726C>G (p.Pro576Ala) c.1801C>G (p.Pro601Ala) c.1603C>G (p.Pro535Ala) c.1165C>G (p.Pro389Ala) n.1506C>G c.1714C>G (p.Pro572Ala) c.1279C>G (p.Pro427Ala) c.1564C>G (p.Pro522Ala) c.1723C>G (p.Pro575Ala) c.1591C>G (p.Pro531Ala) c.1753C>G (p.Pro585Ala) c.1240C>G (p.Pro414Ala) | |
| X | g.2934876G>T | CA412275121 | ARSL | c.1726C>A (p.Pro576Thr) c.1801C>A (p.Pro601Thr) c.1603C>A (p.Pro535Thr) c.1165C>A (p.Pro389Thr) n.1506C>A c.1714C>A (p.Pro572Thr) c.1279C>A (p.Pro427Thr) c.1564C>A (p.Pro522Thr) c.1723C>A (p.Pro575Thr) c.1591C>A (p.Pro531Thr) c.1753C>A (p.Pro585Thr) c.1240C>A (p.Pro414Thr) | |
| X | g.2934877G>A | CA515396326 | ARSL | c.1725C>T (p.Gly575=) c.1800C>T (p.Gly600=) c.1602C>T (p.Gly534=) c.1164C>T (p.Gly388=) n.1505C>T c.1713C>T (p.Gly571=) c.1278C>T (p.Gly426=) c.1563C>T (p.Gly521=) c.1722C>T (p.Gly574=) c.1590C>T (p.Gly530=) c.1752C>T (p.Gly584=) c.1239C>T (p.Gly413=) | |
| X | g.2934877G>C | CA515396327 | ARSL | c.1725C>G (p.Gly575=) c.1800C>G (p.Gly600=) c.1602C>G (p.Gly534=) c.1164C>G (p.Gly388=) n.1505C>G c.1713C>G (p.Gly571=) c.1278C>G (p.Gly426=) c.1563C>G (p.Gly521=) c.1722C>G (p.Gly574=) c.1590C>G (p.Gly530=) c.1752C>G (p.Gly584=) c.1239C>G (p.Gly413=) | |
| X | g.2934877G>T | CA515396328 | ARSL | c.1725C>A (p.Gly575=) c.1800C>A (p.Gly600=) c.1602C>A (p.Gly534=) c.1164C>A (p.Gly388=) n.1505C>A c.1713C>A (p.Gly571=) c.1278C>A (p.Gly426=) c.1563C>A (p.Gly521=) c.1722C>A (p.Gly574=) c.1590C>A (p.Gly530=) c.1752C>A (p.Gly584=) c.1239C>A (p.Gly413=) | |
| X | g.2934878C>A | CA412275123 | ARSL | c.1724G>T (p.Gly575Val) c.1799G>T (p.Gly600Val) c.1601G>T (p.Gly534Val) c.1163G>T (p.Gly388Val) n.1504G>T c.1712G>T (p.Gly571Val) c.1277G>T (p.Gly426Val) c.1562G>T (p.Gly521Val) c.1721G>T (p.Gly574Val) c.1589G>T (p.Gly530Val) c.1751G>T (p.Gly584Val) c.1238G>T (p.Gly413Val) | gnomAD v4 |
| X | g.2934878C>G | CA412275124 | ARSL | c.1724G>C (p.Gly575Ala) c.1799G>C (p.Gly600Ala) c.1601G>C (p.Gly534Ala) c.1163G>C (p.Gly388Ala) n.1504G>C c.1712G>C (p.Gly571Ala) c.1277G>C (p.Gly426Ala) c.1562G>C (p.Gly521Ala) c.1721G>C (p.Gly574Ala) c.1589G>C (p.Gly530Ala) c.1751G>C (p.Gly584Ala) c.1238G>C (p.Gly413Ala) | |
| X | g.2934878C>T | CA412275125 | ARSL | c.1724G>A (p.Gly575Asp) c.1799G>A (p.Gly600Asp) c.1601G>A (p.Gly534Asp) c.1163G>A (p.Gly388Asp) n.1504G>A c.1712G>A (p.Gly571Asp) c.1277G>A (p.Gly426Asp) c.1562G>A (p.Gly521Asp) c.1721G>A (p.Gly574Asp) c.1589G>A (p.Gly530Asp) c.1751G>A (p.Gly584Asp) c.1238G>A (p.Gly413Asp) | |
| X | g.2934879C>A | CA412275126 | ARSL | c.1723G>T (p.Gly575Cys) c.1798G>T (p.Gly600Cys) c.1600G>T (p.Gly534Cys) c.1162G>T (p.Gly388Cys) n.1503G>T c.1711G>T (p.Gly571Cys) c.1276G>T (p.Gly426Cys) c.1561G>T (p.Gly521Cys) c.1720G>T (p.Gly574Cys) c.1588G>T (p.Gly530Cys) c.1750G>T (p.Gly584Cys) c.1237G>T (p.Gly413Cys) | |
| X | g.2934879C>G | CA412275127 | ARSL | c.1723G>C (p.Gly575Arg) c.1798G>C (p.Gly600Arg) c.1600G>C (p.Gly534Arg) c.1162G>C (p.Gly388Arg) n.1503G>C c.1711G>C (p.Gly571Arg) c.1276G>C (p.Gly426Arg) c.1561G>C (p.Gly521Arg) c.1720G>C (p.Gly574Arg) c.1588G>C (p.Gly530Arg) c.1750G>C (p.Gly584Arg) c.1237G>C (p.Gly413Arg) | |
| X | g.2934879C>T | CA412275128 | ARSL | c.1723G>A (p.Gly575Ser) c.1798G>A (p.Gly600Ser) c.1600G>A (p.Gly534Ser) c.1162G>A (p.Gly388Ser) n.1503G>A c.1711G>A (p.Gly571Ser) c.1276G>A (p.Gly426Ser) c.1561G>A (p.Gly521Ser) c.1720G>A (p.Gly574Ser) c.1588G>A (p.Gly530Ser) c.1750G>A (p.Gly584Ser) c.1237G>A (p.Gly413Ser) | gnomAD v4 |
| X | g.2934880A>C | CA412275129 | ARSL | c.1722T>G (p.Cys574Trp) c.1797T>G (p.Cys599Trp) c.1599T>G (p.Cys533Trp) c.1161T>G (p.Cys387Trp) n.1502T>G c.1710T>G (p.Cys570Trp) c.1275T>G (p.Cys425Trp) c.1560T>G (p.Cys520Trp) c.1719T>G (p.Cys573Trp) c.1587T>G (p.Cys529Trp) c.1749T>G (p.Cys583Trp) c.1236T>G (p.Cys412Trp) | |
| X | g.2934880A>G | CA515396336 | ARSL | c.1722T>C (p.Cys574=) c.1797T>C (p.Cys599=) c.1599T>C (p.Cys533=) c.1161T>C (p.Cys387=) n.1502T>C c.1710T>C (p.Cys570=) c.1275T>C (p.Cys425=) c.1560T>C (p.Cys520=) c.1719T>C (p.Cys573=) c.1587T>C (p.Cys529=) c.1749T>C (p.Cys583=) c.1236T>C (p.Cys412=) | |
| X | g.2934880A>T | CA412275130 | ARSL | c.1722T>A (p.Cys574Ter) c.1797T>A (p.Cys599Ter) c.1599T>A (p.Cys533Ter) c.1161T>A (p.Cys387Ter) n.1502T>A c.1710T>A (p.Cys570Ter) c.1275T>A (p.Cys425Ter) c.1560T>A (p.Cys520Ter) c.1719T>A (p.Cys573Ter) c.1587T>A (p.Cys529Ter) c.1749T>A (p.Cys583Ter) c.1236T>A (p.Cys412Ter) | |
| X | g.2934881C>A | CA412275131 | ARSL | c.1721G>T (p.Cys574Phe) c.1796G>T (p.Cys599Phe) c.1598G>T (p.Cys533Phe) c.1160G>T (p.Cys387Phe) n.1501G>T c.1709G>T (p.Cys570Phe) c.1274G>T (p.Cys425Phe) c.1559G>T (p.Cys520Phe) c.1718G>T (p.Cys573Phe) c.1586G>T (p.Cys529Phe) c.1748G>T (p.Cys583Phe) c.1235G>T (p.Cys412Phe) | |
| X | g.2934881C>G | CA412275132 | ARSL | c.1721G>C (p.Cys574Ser) c.1796G>C (p.Cys599Ser) c.1598G>C (p.Cys533Ser) c.1160G>C (p.Cys387Ser) n.1501G>C c.1709G>C (p.Cys570Ser) c.1274G>C (p.Cys425Ser) c.1559G>C (p.Cys520Ser) c.1718G>C (p.Cys573Ser) c.1586G>C (p.Cys529Ser) c.1748G>C (p.Cys583Ser) c.1235G>C (p.Cys412Ser) | |
| X | g.2934881C>T | CA412275133 | ARSL | c.1721G>A (p.Cys574Tyr) c.1796G>A (p.Cys599Tyr) c.1598G>A (p.Cys533Tyr) c.1160G>A (p.Cys387Tyr) n.1501G>A c.1709G>A (p.Cys570Tyr) c.1274G>A (p.Cys425Tyr) c.1559G>A (p.Cys520Tyr) c.1718G>A (p.Cys573Tyr) c.1586G>A (p.Cys529Tyr) c.1748G>A (p.Cys583Tyr) c.1235G>A (p.Cys412Tyr) | |
| X | g.2934882A>C | CA412275135 | ARSL | c.1720T>G (p.Cys574Gly) c.1795T>G (p.Cys599Gly) c.1597T>G (p.Cys533Gly) c.1159T>G (p.Cys387Gly) n.1500T>G c.1708T>G (p.Cys570Gly) c.1273T>G (p.Cys425Gly) c.1558T>G (p.Cys520Gly) c.1717T>G (p.Cys573Gly) c.1585T>G (p.Cys529Gly) c.1747T>G (p.Cys583Gly) c.1234T>G (p.Cys412Gly) | |
| X | g.2934882A>G | CA412275136 | ARSL | c.1720T>C (p.Cys574Arg) c.1795T>C (p.Cys599Arg) c.1597T>C (p.Cys533Arg) c.1159T>C (p.Cys387Arg) n.1500T>C c.1708T>C (p.Cys570Arg) c.1273T>C (p.Cys425Arg) c.1558T>C (p.Cys520Arg) c.1717T>C (p.Cys573Arg) c.1585T>C (p.Cys529Arg) c.1747T>C (p.Cys583Arg) c.1234T>C (p.Cys412Arg) | |
| X | g.2934882A>T | CA412275134 | ARSL | c.1720T>A (p.Cys574Ser) c.1795T>A (p.Cys599Ser) c.1597T>A (p.Cys533Ser) c.1159T>A (p.Cys387Ser) n.1500T>A c.1708T>A (p.Cys570Ser) c.1273T>A (p.Cys425Ser) c.1558T>A (p.Cys520Ser) c.1717T>A (p.Cys573Ser) c.1585T>A (p.Cys529Ser) c.1747T>A (p.Cys583Ser) c.1234T>A (p.Cys412Ser) | |
| X | g.2934883G>A | CA515396342 | ARSL | c.1719C>T (p.Cys573=) c.1794C>T (p.Cys598=) c.1596C>T (p.Cys532=) c.1158C>T (p.Cys386=) n.1499C>T c.1707C>T (p.Cys569=) c.1272C>T (p.Cys424=) c.1557C>T (p.Cys519=) c.1716C>T (p.Cys572=) c.1584C>T (p.Cys528=) c.1746C>T (p.Cys582=) c.1233C>T (p.Cys411=) | gnomAD v4 |
| X | g.2934883G>C | CA412275137 | ARSL | c.1719C>G (p.Cys573Trp) c.1794C>G (p.Cys598Trp) c.1596C>G (p.Cys532Trp) c.1158C>G (p.Cys386Trp) n.1499C>G c.1707C>G (p.Cys569Trp) c.1272C>G (p.Cys424Trp) c.1557C>G (p.Cys519Trp) c.1716C>G (p.Cys572Trp) c.1584C>G (p.Cys528Trp) c.1746C>G (p.Cys582Trp) c.1233C>G (p.Cys411Trp) | |
| X | g.2934883G>T | CA412275138 | ARSL | c.1719C>A (p.Cys573Ter) c.1794C>A (p.Cys598Ter) c.1596C>A (p.Cys532Ter) c.1158C>A (p.Cys386Ter) n.1499C>A c.1707C>A (p.Cys569Ter) c.1272C>A (p.Cys424Ter) c.1557C>A (p.Cys519Ter) c.1716C>A (p.Cys572Ter) c.1584C>A (p.Cys528Ter) c.1746C>A (p.Cys582Ter) c.1233C>A (p.Cys411Ter) | |
| X | g.2934884C>A | CA412275139 | ARSL | c.1718G>T (p.Cys573Phe) c.1793G>T (p.Cys598Phe) c.1595G>T (p.Cys532Phe) c.1157G>T (p.Cys386Phe) n.1498G>T c.1706G>T (p.Cys569Phe) c.1271G>T (p.Cys424Phe) c.1556G>T (p.Cys519Phe) c.1715G>T (p.Cys572Phe) c.1583G>T (p.Cys528Phe) c.1745G>T (p.Cys582Phe) c.1232G>T (p.Cys411Phe) | gnomAD v4 |
| X | g.2934884C>G | CA412275140 | ARSL | c.1718G>C (p.Cys573Ser) c.1793G>C (p.Cys598Ser) c.1595G>C (p.Cys532Ser) c.1157G>C (p.Cys386Ser) n.1498G>C c.1706G>C (p.Cys569Ser) c.1271G>C (p.Cys424Ser) c.1556G>C (p.Cys519Ser) c.1715G>C (p.Cys572Ser) c.1583G>C (p.Cys528Ser) c.1745G>C (p.Cys582Ser) c.1232G>C (p.Cys411Ser) | |
| X | g.2934884C>T | CA412275141 | ARSL | c.1718G>A (p.Cys573Tyr) c.1793G>A (p.Cys598Tyr) c.1595G>A (p.Cys532Tyr) c.1157G>A (p.Cys386Tyr) n.1498G>A c.1706G>A (p.Cys569Tyr) c.1271G>A (p.Cys424Tyr) c.1556G>A (p.Cys519Tyr) c.1715G>A (p.Cys572Tyr) c.1583G>A (p.Cys528Tyr) c.1745G>A (p.Cys582Tyr) c.1232G>A (p.Cys411Tyr) | gnomAD v4 |
| X | g.2934885A>C | CA412275142 | ARSL | c.1717T>G (p.Cys573Gly) c.1792T>G (p.Cys598Gly) c.1594T>G (p.Cys532Gly) c.1156T>G (p.Cys386Gly) n.1497T>G c.1705T>G (p.Cys569Gly) c.1270T>G (p.Cys424Gly) c.1555T>G (p.Cys519Gly) c.1714T>G (p.Cys572Gly) c.1582T>G (p.Cys528Gly) c.1744T>G (p.Cys582Gly) c.1231T>G (p.Cys411Gly) | |
| X | g.2934885A>G | CA412275143 | ARSL | c.1717T>C (p.Cys573Arg) c.1792T>C (p.Cys598Arg) c.1594T>C (p.Cys532Arg) c.1156T>C (p.Cys386Arg) n.1497T>C c.1705T>C (p.Cys569Arg) c.1270T>C (p.Cys424Arg) c.1555T>C (p.Cys519Arg) c.1714T>C (p.Cys572Arg) c.1582T>C (p.Cys528Arg) c.1744T>C (p.Cys582Arg) c.1231T>C (p.Cys411Arg) | |
| X | g.2934885A>T | CA412275144 | ARSL | c.1717T>A (p.Cys573Ser) c.1792T>A (p.Cys598Ser) c.1594T>A (p.Cys532Ser) c.1156T>A (p.Cys386Ser) n.1497T>A c.1705T>A (p.Cys569Ser) c.1270T>A (p.Cys424Ser) c.1555T>A (p.Cys519Ser) c.1714T>A (p.Cys572Ser) c.1582T>A (p.Cys528Ser) c.1744T>A (p.Cys582Ser) c.1231T>A (p.Cys411Ser) | |
| X | g.2934886G>A | CA515396347 | ARSL | c.1716C>T (p.Pro572=) c.1791C>T (p.Pro597=) c.1593C>T (p.Pro531=) c.1155C>T (p.Pro385=) n.1496C>T c.1704C>T (p.Pro568=) c.1269C>T (p.Pro423=) c.1554C>T (p.Pro518=) c.1713C>T (p.Pro571=) c.1581C>T (p.Pro527=) c.1743C>T (p.Pro581=) c.1230C>T (p.Pro410=) | dbSNP gnomAD v4 |
| X | g.2934886G>C | CA515396348 | ARSL | c.1716C>G (p.Pro572=) c.1791C>G (p.Pro597=) c.1593C>G (p.Pro531=) c.1155C>G (p.Pro385=) n.1496C>G c.1704C>G (p.Pro568=) c.1269C>G (p.Pro423=) c.1554C>G (p.Pro518=) c.1713C>G (p.Pro571=) c.1581C>G (p.Pro527=) c.1743C>G (p.Pro581=) c.1230C>G (p.Pro410=) | |
| X | g.2934886G= | CA2412580503 | ARSL | c.1716C= (p.Pro572=) c.1791C= (p.Pro597=) c.1593C= (p.Pro531=) c.1155C= (p.Pro385=) n.1496C= c.1704C= (p.Pro568=) c.1269C= (p.Pro423=) c.1554C= (p.Pro518=) c.1713C= (p.Pro571=) c.1581C= (p.Pro527=) c.1743C= (p.Pro581=) c.1230C= (p.Pro410=) | |
| X | g.2934886G>T | CA515396353 | ARSL | c.1716C>A (p.Pro572=) c.1791C>A (p.Pro597=) c.1593C>A (p.Pro531=) c.1155C>A (p.Pro385=) n.1496C>A c.1704C>A (p.Pro568=) c.1269C>A (p.Pro423=) c.1554C>A (p.Pro518=) c.1713C>A (p.Pro571=) c.1581C>A (p.Pro527=) c.1743C>A (p.Pro581=) c.1230C>A (p.Pro410=) | |
| X | g.2934887G>A | CA412275145 | ARSL | c.1715C>T (p.Pro572Leu) c.1790C>T (p.Pro597Leu) c.1592C>T (p.Pro531Leu) c.1154C>T (p.Pro385Leu) n.1495C>T c.1703C>T (p.Pro568Leu) c.1268C>T (p.Pro423Leu) c.1553C>T (p.Pro518Leu) c.1712C>T (p.Pro571Leu) c.1580C>T (p.Pro527Leu) c.1742C>T (p.Pro581Leu) c.1229C>T (p.Pro410Leu) | |
| X | g.2934887G>C | CA412275146 | ARSL | c.1715C>G (p.Pro572Arg) c.1790C>G (p.Pro597Arg) c.1592C>G (p.Pro531Arg) c.1154C>G (p.Pro385Arg) n.1495C>G c.1703C>G (p.Pro568Arg) c.1268C>G (p.Pro423Arg) c.1553C>G (p.Pro518Arg) c.1712C>G (p.Pro571Arg) c.1580C>G (p.Pro527Arg) c.1742C>G (p.Pro581Arg) c.1229C>G (p.Pro410Arg) |