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.2934770G>A | CA2693015495 | ARSL | c.*62C>T (n.*62C>T) n.1612C>T | gnomAD v4 |
| X | g.2934770G>C | CA2579543774 | ARSL | c.*62C>G (n.*62C>G) n.1612C>G | |
| X | g.2934770G>T | CA2579543775 | ARSL | c.*62C>A (n.*62C>A) n.1612C>A | gnomAD v4 |
| X | g.2934774G>C | CA640361184 | ARSL | c.*58C>G (n.*58C>G) n.1608C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.2934774G= | CA2412580467 | ARSL | c.*58C= (n.*58C=) n.1608C= | |
| X | g.2934774G>T | CA2579543776 | ARSL | c.*58C>A (n.*58C>A) n.1608C>A | gnomAD v4 |
| X | g.2934778C>A | CA2693015496 | ARSL | c.*54G>T (n.*54G>T) n.1604G>T | gnomAD v4 |
| X | g.2934778C>T | CA2693015497 | ARSL | c.*54G>A (n.*54G>A) n.1604G>A | gnomAD v4 |
| X | g.2934779A>C | CA2693015498 | ARSL | c.*53T>G (n.*53T>G) n.1603T>G | gnomAD v4 |
| X | g.2934782T>C | CA10337960 | ARSL | c.*50A>G (n.*50A>G) n.1600A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.2934782T= | CA2412580468 | ARSL | c.*50A= (n.*50A=) n.1600A= | |
| X | g.2934783T>C | CA2579543777 | ARSL | c.*49A>G (n.*49A>G) n.1599A>G | |
| X | g.2934785A>G | CA2693015499 | ARSL | c.*47T>C (n.*47T>C) n.1597T>C | gnomAD v4 |
| X | g.2934786G>A | CA2693015500 | ARSL | c.*46C>T (n.*46C>T) n.1596C>T | gnomAD v4 |
| X | g.2934787T>C | CA2579543778 | ARSL | c.*45A>G (n.*45A>G) n.1595A>G | |
| X | g.2934788G>T | CA2579543779 | ARSL | c.*44C>A (n.*44C>A) n.1594C>A | |
| X | g.2934790C>A | CA2693015501 | ARSL | c.*42G>T (n.*42G>T) n.1592G>T | gnomAD v4 |
| X | g.2934791A>G | CA2693015502 | ARSL | c.*41T>C (n.*41T>C) n.1591T>C | gnomAD v4 |
| X | g.2934792A= | CA2412580469 | ARSL | c.*40T= (n.*40T=) n.1590T= | |
| X | g.2934792A>C | CA640361185 | ARSL | c.*40T>G (n.*40T>G) n.1590T>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.2934792A>G | CA10337961 | ARSL | c.*40T>C (n.*40T>C) n.1590T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.2934794A= | CA2412580470 | ARSL | c.*38T= (n.*38T=) n.1588T= | |
| X | g.2934794A>C | CA2579543780 | ARSL | c.*38T>G (n.*38T>G) n.1588T>G | |
| X | g.2934794A>T | CA640361186 | ARSL | c.*38T>A (n.*38T>A) n.1588T>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.2934796T>G | CA2693015505 | ARSL | c.*36A>C (n.*36A>C) n.1586A>C | gnomAD v4 |
| X | g.2934799G>T | CA2693015506 | ARSL | c.*33C>A (n.*33C>A) n.1583C>A | gnomAD v4 |
| X | g.2934801A= | CA2412580471 | ARSL | c.*31T= (n.*31T=) n.1581T= | |
| X | g.2934801A>C | CA640361187 | ARSL | c.*31T>G (n.*31T>G) n.1581T>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.2934801A>G | CA640361188 | ARSL | c.*31T>C (n.*31T>C) n.1581T>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.2934804C>A | CA640361189 | ARSL | c.*28G>T (n.*28G>T) n.1578G>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.2934804C= | CA2412580472 | ARSL | c.*28G= (n.*28G=) n.1578G= | |
| X | g.2934804C>G | CA2693015508 | ARSL | c.*28G>C (n.*28G>C) n.1578G>C | gnomAD v4 |
| X | g.2934804C>T | CA640361190 | ARSL | c.*28G>A (n.*28G>A) n.1578G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.2934805G>A | CA10337962 | ARSL | c.*27C>T (n.*27C>T) n.1577C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.2934805G>C | CA640361191 | ARSL | c.*27C>G (n.*27C>G) n.1577C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.2934805G= | CA2412580473 | ARSL | c.*27C= (n.*27C=) n.1577C= | |
| X | g.2934805G>T | CA2693015509 | ARSL | c.*27C>A (n.*27C>A) n.1577C>A | gnomAD v4 |
| X | g.2934808del | CA2819447547 | ARSL | c.*27del (n.*27del) n.1577del | |
| X | g.2934807G>A | CA2693015510 | ARSL | c.*25C>T (n.*25C>T) n.1575C>T | gnomAD v4 |
| X | g.2934807G= | CA2412580474 | ARSL | c.*25C= (n.*25C=) n.1575C= | |
| X | g.2934807G>T | CA2412580475 | ARSL | c.*25C>A (n.*25C>A) n.1575C>A | dbSNP gnomAD v4 |
| X | g.2934808G>A | CA2693015511 | ARSL | c.*24C>T (n.*24C>T) n.1574C>T | gnomAD v4 |
| X | g.2934808G>C | CA2412580477 | ARSL | c.*24C>G (n.*24C>G) n.1574C>G | dbSNP |
| X | g.2934808G= | CA2412580476 | ARSL | c.*24C= (n.*24C=) n.1574C= | |
| X | g.2934808G>T | CA2693015512 | ARSL | c.*24C>A (n.*24C>A) n.1574C>A | gnomAD v4 |
| X | g.2934809C>A | CA10337963 | ARSL | c.*23G>T (n.*23G>T) n.1573G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.2934809C= | CA2412580478 | ARSL | c.*23G= (n.*23G=) n.1573G= | |
| X | g.2934812C= | CA2412580479 | ARSL | c.*20G= (n.*20G=) n.1570G= | |
| X | g.2934812C>T | CA10337964 | ARSL | c.*20G>A (n.*20G>A) n.1570G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.2934814G>T | CA2693015517 | ARSL | c.*18C>A (n.*18C>A) n.1568C>A | gnomAD v4 |
| X | g.2934815C>A | CA1130629190 | ARSL | c.*17G>T (n.*17G>T) n.1567G>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.2934815C= | CA2412580481 | ARSL | c.*17G= (n.*17G=) n.1567G= | |
| X | g.2934815C>G | CA2412580480 | ARSL | c.*17G>C (n.*17G>C) n.1567G>C | dbSNP gnomAD v4 |
| X | g.2934817T>C | CA2693015519 | ARSL | c.*15A>G (n.*15A>G) n.1565A>G | gnomAD v4 |
| X | g.2934818T>C | CA10337965 | ARSL | c.*14A>G (n.*14A>G) n.1564A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.2934818T= | CA2412580482 | ARSL | c.*14A= (n.*14A=) n.1564A= | |
| X | g.2934819T>G | CA10337966 | ARSL | c.*13A>C (n.*13A>C) n.1563A>C | dbSNP ExAC |
| X | g.2934819T= | CA2412580483 | ARSL | c.*13A= (n.*13A=) n.1563A= | |
| X | g.2934820C= | CA2412580484 | ARSL | c.*12G= (n.*12G=) n.1562G= | |
| X | g.2934820C>T | CA874478856 | ARSL | c.*12G>A (n.*12G>A) n.1562G>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.2934821A>G | CA2514923110 | ARSL | c.*11T>C (n.*11T>C) n.1561T>C | gnomAD v4 |
| X | g.2934824del | CA2559227110 | ARSL | c.*8del (n.*8del) n.1558del | |
| X | g.2934824G>A | CA2693015520 | ARSL | c.*8C>T (n.*8C>T) n.1558C>T | gnomAD v4 |
| X | g.2934826A>C | CA2693015521 | ARSL | c.*6T>G (n.*6T>G) n.1556T>G | gnomAD v4 |
| X | g.2934827G>T | CA2693015522 | ARSL | c.*5C>A (n.*5C>A) n.1555C>A | gnomAD v4 |
| X | g.2934828A>G | CA2524418417 | ARSL | c.*4T>C (n.*4T>C) n.1554T>C | gnomAD v4 |
| X | g.2934830A>G | CA2693015523 | ARSL | c.*2T>C (n.*2T>C) n.1552T>C | gnomAD v4 |
| X | g.2934833del | CA2579543781 | ARSL | c.*1del (n.*1del) n.1551del | |
| X | g.2934832T>A | CA412275020 | ARSL | c.1770A>T (p.Ter590Tyr) c.1845A>T (p.Ter615Tyr) c.1647A>T (p.Ter549Tyr) c.1209A>T (p.Ter403Tyr) n.1550A>T c.1758A>T (p.Ter586Tyr) c.1323A>T (p.Ter441Tyr) c.1608A>T (p.Ter536Tyr) c.1767A>T (p.Ter589Tyr) c.1635A>T (p.Ter545Tyr) c.1797A>T (p.Ter599Tyr) c.1284A>T (p.Ter428Tyr) | |
| X | g.2934832T>C | CA515396241 | ARSL | c.1770A>G (p.Ter590=) c.1845A>G (p.Ter615=) c.1647A>G (p.Ter549=) c.1209A>G (p.Ter403=) n.1550A>G c.1758A>G (p.Ter586=) c.1323A>G (p.Ter441=) c.1608A>G (p.Ter536=) c.1767A>G (p.Ter589=) c.1635A>G (p.Ter545=) c.1797A>G (p.Ter599=) c.1284A>G (p.Ter428=) | |
| X | g.2934832T>G | CA412275021 | ARSL | c.1770A>C (p.Ter590Tyr) c.1845A>C (p.Ter615Tyr) c.1647A>C (p.Ter549Tyr) c.1209A>C (p.Ter403Tyr) n.1550A>C c.1758A>C (p.Ter586Tyr) c.1323A>C (p.Ter441Tyr) c.1608A>C (p.Ter536Tyr) c.1767A>C (p.Ter589Tyr) c.1635A>C (p.Ter545Tyr) c.1797A>C (p.Ter599Tyr) c.1284A>C (p.Ter428Tyr) | |
| X | g.2934833T>A | CA412275022 | ARSL | c.1769A>T (p.Ter590Leu) c.1844A>T (p.Ter615Leu) c.1646A>T (p.Ter549Leu) c.1208A>T (p.Ter403Leu) n.1549A>T c.1757A>T (p.Ter586Leu) c.1322A>T (p.Ter441Leu) c.1607A>T (p.Ter536Leu) c.1766A>T (p.Ter589Leu) c.1634A>T (p.Ter545Leu) c.1796A>T (p.Ter599Leu) c.1283A>T (p.Ter428Leu) | |
| X | g.2934833T>C | CA515396243 | ARSL | c.1769A>G (p.Ter590=) c.1844A>G (p.Ter615=) c.1646A>G (p.Ter549=) c.1208A>G (p.Ter403=) n.1549A>G c.1757A>G (p.Ter586=) c.1322A>G (p.Ter441=) c.1607A>G (p.Ter536=) c.1766A>G (p.Ter589=) c.1634A>G (p.Ter545=) c.1796A>G (p.Ter599=) c.1283A>G (p.Ter428=) | |
| X | g.2934833T>G | CA412275023 | ARSL | c.1769A>C (p.Ter590Ser) c.1844A>C (p.Ter615Ser) c.1646A>C (p.Ter549Ser) c.1208A>C (p.Ter403Ser) n.1549A>C c.1757A>C (p.Ter586Ser) c.1322A>C (p.Ter441Ser) c.1607A>C (p.Ter536Ser) c.1766A>C (p.Ter589Ser) c.1634A>C (p.Ter545Ser) c.1796A>C (p.Ter599Ser) c.1283A>C (p.Ter428Ser) | |
| X | g.2934834A>C | CA412275026 | ARSL | c.1768T>G (p.Ter590Glu) c.1843T>G (p.Ter615Glu) c.1645T>G (p.Ter549Glu) c.1207T>G (p.Ter403Glu) n.1548T>G c.1756T>G (p.Ter586Glu) c.1321T>G (p.Ter441Glu) c.1606T>G (p.Ter536Glu) c.1765T>G (p.Ter589Glu) c.1633T>G (p.Ter545Glu) c.1795T>G (p.Ter599Glu) c.1282T>G (p.Ter428Glu) | |
| X | g.2934834A>G | CA412275024 | ARSL | c.1768T>C (p.Ter590Gln) c.1843T>C (p.Ter615Gln) c.1645T>C (p.Ter549Gln) c.1207T>C (p.Ter403Gln) n.1548T>C c.1756T>C (p.Ter586Gln) c.1321T>C (p.Ter441Gln) c.1606T>C (p.Ter536Gln) c.1765T>C (p.Ter589Gln) c.1633T>C (p.Ter545Gln) c.1795T>C (p.Ter599Gln) c.1282T>C (p.Ter428Gln) | |
| X | g.2934834A>T | CA412275025 | ARSL | c.1768T>A (p.Ter590Lys) c.1843T>A (p.Ter615Lys) c.1645T>A (p.Ter549Lys) c.1207T>A (p.Ter403Lys) n.1548T>A c.1756T>A (p.Ter586Lys) c.1321T>A (p.Ter441Lys) c.1606T>A (p.Ter536Lys) c.1765T>A (p.Ter589Lys) c.1633T>A (p.Ter545Lys) c.1795T>A (p.Ter599Lys) c.1282T>A (p.Ter428Lys) | gnomAD v4 |
| X | g.2934835T>A | CA412275027 | ARSL | c.1767A>T (p.Gln589His) c.1842A>T (p.Gln614His) c.1644A>T (p.Gln548His) c.1206A>T (p.Gln402His) n.1547A>T c.1755A>T (p.Gln585His) c.1320A>T (p.Gln440His) c.1605A>T (p.Gln535His) c.1764A>T (p.Gln588His) c.1632A>T (p.Gln544His) c.1794A>T (p.Gln598His) c.1281A>T (p.Gln427His) | |
| X | g.2934835T>C | CA515396247 | ARSL | c.1767A>G (p.Gln589=) c.1842A>G (p.Gln614=) c.1644A>G (p.Gln548=) c.1206A>G (p.Gln402=) n.1547A>G c.1755A>G (p.Gln585=) c.1320A>G (p.Gln440=) c.1605A>G (p.Gln535=) c.1764A>G (p.Gln588=) c.1632A>G (p.Gln544=) c.1794A>G (p.Gln598=) c.1281A>G (p.Gln427=) | |
| X | g.2934835T>G | CA412275028 | ARSL | c.1767A>C (p.Gln589His) c.1842A>C (p.Gln614His) c.1644A>C (p.Gln548His) c.1206A>C (p.Gln402His) n.1547A>C c.1755A>C (p.Gln585His) c.1320A>C (p.Gln440His) c.1605A>C (p.Gln535His) c.1764A>C (p.Gln588His) c.1632A>C (p.Gln544His) c.1794A>C (p.Gln598His) c.1281A>C (p.Gln427His) | |
| X | g.2934836T>A | CA412275029 | ARSL | c.1766A>T (p.Gln589Leu) c.1841A>T (p.Gln614Leu) c.1643A>T (p.Gln548Leu) c.1205A>T (p.Gln402Leu) n.1546A>T c.1754A>T (p.Gln585Leu) c.1319A>T (p.Gln440Leu) c.1604A>T (p.Gln535Leu) c.1763A>T (p.Gln588Leu) c.1631A>T (p.Gln544Leu) c.1793A>T (p.Gln598Leu) c.1280A>T (p.Gln427Leu) | |
| X | g.2934836T>C | CA412275030 | ARSL | c.1766A>G (p.Gln589Arg) c.1841A>G (p.Gln614Arg) c.1643A>G (p.Gln548Arg) c.1205A>G (p.Gln402Arg) n.1546A>G c.1754A>G (p.Gln585Arg) c.1319A>G (p.Gln440Arg) c.1604A>G (p.Gln535Arg) c.1763A>G (p.Gln588Arg) c.1631A>G (p.Gln544Arg) c.1793A>G (p.Gln598Arg) c.1280A>G (p.Gln427Arg) | |
| X | g.2934836T>G | CA412275031 | ARSL | c.1766A>C (p.Gln589Pro) c.1841A>C (p.Gln614Pro) c.1643A>C (p.Gln548Pro) c.1205A>C (p.Gln402Pro) n.1546A>C c.1754A>C (p.Gln585Pro) c.1319A>C (p.Gln440Pro) c.1604A>C (p.Gln535Pro) c.1763A>C (p.Gln588Pro) c.1631A>C (p.Gln544Pro) c.1793A>C (p.Gln598Pro) c.1280A>C (p.Gln427Pro) | |
| X | g.2934837G>A | CA412275032 | ARSL | c.1765C>T (p.Gln589Ter) c.1840C>T (p.Gln614Ter) c.1642C>T (p.Gln548Ter) c.1204C>T (p.Gln402Ter) n.1545C>T c.1753C>T (p.Gln585Ter) c.1318C>T (p.Gln440Ter) c.1603C>T (p.Gln535Ter) c.1762C>T (p.Gln588Ter) c.1630C>T (p.Gln544Ter) c.1792C>T (p.Gln598Ter) c.1279C>T (p.Gln427Ter) | |
| X | g.2934837G>C | CA412275034 | ARSL | c.1765C>G (p.Gln589Glu) c.1840C>G (p.Gln614Glu) c.1642C>G (p.Gln548Glu) c.1204C>G (p.Gln402Glu) n.1545C>G c.1753C>G (p.Gln585Glu) c.1318C>G (p.Gln440Glu) c.1603C>G (p.Gln535Glu) c.1762C>G (p.Gln588Glu) c.1630C>G (p.Gln544Glu) c.1792C>G (p.Gln598Glu) c.1279C>G (p.Gln427Glu) | |
| X | g.2934837G>T | CA412275033 | ARSL | c.1765C>A (p.Gln589Lys) c.1840C>A (p.Gln614Lys) c.1642C>A (p.Gln548Lys) c.1204C>A (p.Gln402Lys) n.1545C>A c.1753C>A (p.Gln585Lys) c.1318C>A (p.Gln440Lys) c.1603C>A (p.Gln535Lys) c.1762C>A (p.Gln588Lys) c.1630C>A (p.Gln544Lys) c.1792C>A (p.Gln598Lys) c.1279C>A (p.Gln427Lys) | |
| X | g.2934838T>A | CA515396249 | ARSL | c.1764A>T (p.Pro588=) c.1839A>T (p.Pro613=) c.1641A>T (p.Pro547=) c.1203A>T (p.Pro401=) n.1544A>T c.1752A>T (p.Pro584=) c.1317A>T (p.Pro439=) c.1602A>T (p.Pro534=) c.1761A>T (p.Pro587=) c.1629A>T (p.Pro543=) c.1791A>T (p.Pro597=) c.1278A>T (p.Pro426=) | |
| X | g.2934838T>C | CA515396250 | ARSL | c.1764A>G (p.Pro588=) c.1839A>G (p.Pro613=) c.1641A>G (p.Pro547=) c.1203A>G (p.Pro401=) n.1544A>G c.1752A>G (p.Pro584=) c.1317A>G (p.Pro439=) c.1602A>G (p.Pro534=) c.1761A>G (p.Pro587=) c.1629A>G (p.Pro543=) c.1791A>G (p.Pro597=) c.1278A>G (p.Pro426=) | dbSNP |
| X | g.2934838T>G | CA515396251 | ARSL | c.1764A>C (p.Pro588=) c.1839A>C (p.Pro613=) c.1641A>C (p.Pro547=) c.1203A>C (p.Pro401=) n.1544A>C c.1752A>C (p.Pro584=) c.1317A>C (p.Pro439=) c.1602A>C (p.Pro534=) c.1761A>C (p.Pro587=) c.1629A>C (p.Pro543=) c.1791A>C (p.Pro597=) c.1278A>C (p.Pro426=) | |
| X | g.2934838T= | CA2412580485 | ARSL | c.1764A= (p.Pro588=) c.1839A= (p.Pro613=) c.1641A= (p.Pro547=) c.1203A= (p.Pro401=) n.1544A= c.1752A= (p.Pro584=) c.1317A= (p.Pro439=) c.1602A= (p.Pro534=) c.1761A= (p.Pro587=) c.1629A= (p.Pro543=) c.1791A= (p.Pro597=) c.1278A= (p.Pro426=) | |
| X | g.2934839G>A | CA412275035 | ARSL | c.1763C>T (p.Pro588Leu) c.1838C>T (p.Pro613Leu) c.1640C>T (p.Pro547Leu) c.1202C>T (p.Pro401Leu) n.1543C>T c.1751C>T (p.Pro584Leu) c.1316C>T (p.Pro439Leu) c.1601C>T (p.Pro534Leu) c.1760C>T (p.Pro587Leu) c.1628C>T (p.Pro543Leu) c.1790C>T (p.Pro597Leu) c.1277C>T (p.Pro426Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.2934839G>C | CA412275036 | ARSL | c.1763C>G (p.Pro588Arg) c.1838C>G (p.Pro613Arg) c.1640C>G (p.Pro547Arg) c.1202C>G (p.Pro401Arg) n.1543C>G c.1751C>G (p.Pro584Arg) c.1316C>G (p.Pro439Arg) c.1601C>G (p.Pro534Arg) c.1760C>G (p.Pro587Arg) c.1628C>G (p.Pro543Arg) c.1790C>G (p.Pro597Arg) c.1277C>G (p.Pro426Arg) | |
| X | g.2934839G= | CA2412580486 | ARSL | c.1763C= (p.Pro588=) c.1838C= (p.Pro613=) c.1640C= (p.Pro547=) c.1202C= (p.Pro401=) n.1543C= c.1751C= (p.Pro584=) c.1316C= (p.Pro439=) c.1601C= (p.Pro534=) c.1760C= (p.Pro587=) c.1628C= (p.Pro543=) c.1790C= (p.Pro597=) c.1277C= (p.Pro426=) | |
| X | g.2934839G>T | CA412275037 | ARSL | c.1763C>A (p.Pro588Gln) c.1838C>A (p.Pro613Gln) c.1640C>A (p.Pro547Gln) c.1202C>A (p.Pro401Gln) n.1543C>A c.1751C>A (p.Pro584Gln) c.1316C>A (p.Pro439Gln) c.1601C>A (p.Pro534Gln) c.1760C>A (p.Pro587Gln) c.1628C>A (p.Pro543Gln) c.1790C>A (p.Pro597Gln) c.1277C>A (p.Pro426Gln) | |
| X | g.2934841del | CA2556464651 | ARSL | c.1763del (p.Pro588HisfsTer7) c.1838del (p.Pro613HisfsTer7) c.1640del (p.Pro547HisfsTer7) c.1202del (p.Pro401HisfsTer?) n.1543del c.1751del (p.Pro584HisfsTer7) c.1316del (p.Pro439HisfsTer?) c.1601del (p.Pro534HisfsTer7) c.1838del (p.Pro613HisfsTer?) c.1760del (p.Pro587HisfsTer7) c.1628del (p.Pro543HisfsTer7) c.1790del (p.Pro597HisfsTer7) c.1277del (p.Pro426HisfsTer7) c.1202del (p.Pro401HisfsTer7) | |
| X | g.2934840G>A | CA412275038 | ARSL | c.1762C>T (p.Pro588Ser) c.1837C>T (p.Pro613Ser) c.1639C>T (p.Pro547Ser) c.1201C>T (p.Pro401Ser) n.1542C>T c.1750C>T (p.Pro584Ser) c.1315C>T (p.Pro439Ser) c.1600C>T (p.Pro534Ser) c.1759C>T (p.Pro587Ser) c.1627C>T (p.Pro543Ser) c.1789C>T (p.Pro597Ser) c.1276C>T (p.Pro426Ser) | gnomAD v4 |
| X | g.2934840G>C | CA412275039 | ARSL | c.1762C>G (p.Pro588Ala) c.1837C>G (p.Pro613Ala) c.1639C>G (p.Pro547Ala) c.1201C>G (p.Pro401Ala) n.1542C>G c.1750C>G (p.Pro584Ala) c.1315C>G (p.Pro439Ala) c.1600C>G (p.Pro534Ala) c.1759C>G (p.Pro587Ala) c.1627C>G (p.Pro543Ala) c.1789C>G (p.Pro597Ala) c.1276C>G (p.Pro426Ala) | |
| X | g.2934840G>T | CA412275040 | ARSL | c.1762C>A (p.Pro588Thr) c.1837C>A (p.Pro613Thr) c.1639C>A (p.Pro547Thr) c.1201C>A (p.Pro401Thr) n.1542C>A c.1750C>A (p.Pro584Thr) c.1315C>A (p.Pro439Thr) c.1600C>A (p.Pro534Thr) c.1759C>A (p.Pro587Thr) c.1627C>A (p.Pro543Thr) c.1789C>A (p.Pro597Thr) c.1276C>A (p.Pro426Thr) | gnomAD v4 |
| X | g.2934841G>A | CA515396258 | ARSL | c.1761C>T (p.Asp587=) c.1836C>T (p.Asp612=) c.1638C>T (p.Asp546=) c.1200C>T (p.Asp400=) n.1541C>T c.1749C>T (p.Asp583=) c.1314C>T (p.Asp438=) c.1599C>T (p.Asp533=) c.1758C>T (p.Asp586=) c.1626C>T (p.Asp542=) c.1788C>T (p.Asp596=) c.1275C>T (p.Asp425=) | |
| X | g.2934841G>C | CA412275041 | ARSL | c.1761C>G (p.Asp587Glu) c.1836C>G (p.Asp612Glu) c.1638C>G (p.Asp546Glu) c.1200C>G (p.Asp400Glu) n.1541C>G c.1749C>G (p.Asp583Glu) c.1314C>G (p.Asp438Glu) c.1599C>G (p.Asp533Glu) c.1758C>G (p.Asp586Glu) c.1626C>G (p.Asp542Glu) c.1788C>G (p.Asp596Glu) c.1275C>G (p.Asp425Glu) | |
| X | g.2934841G>T | CA412275042 | ARSL | c.1761C>A (p.Asp587Glu) c.1836C>A (p.Asp612Glu) c.1638C>A (p.Asp546Glu) c.1200C>A (p.Asp400Glu) n.1541C>A c.1749C>A (p.Asp583Glu) c.1314C>A (p.Asp438Glu) c.1599C>A (p.Asp533Glu) c.1758C>A (p.Asp586Glu) c.1626C>A (p.Asp542Glu) c.1788C>A (p.Asp596Glu) c.1275C>A (p.Asp425Glu) | |
| X | g.2934842T>A | CA412275043 | ARSL | c.1760A>T (p.Asp587Val) c.1835A>T (p.Asp612Val) c.1637A>T (p.Asp546Val) c.1199A>T (p.Asp400Val) n.1540A>T c.1748A>T (p.Asp583Val) c.1313A>T (p.Asp438Val) c.1598A>T (p.Asp533Val) c.1757A>T (p.Asp586Val) c.1625A>T (p.Asp542Val) c.1787A>T (p.Asp596Val) c.1274A>T (p.Asp425Val) | |
| X | g.2934842T>C | CA412275044 | ARSL | c.1760A>G (p.Asp587Gly) c.1835A>G (p.Asp612Gly) c.1637A>G (p.Asp546Gly) c.1199A>G (p.Asp400Gly) n.1540A>G c.1748A>G (p.Asp583Gly) c.1313A>G (p.Asp438Gly) c.1598A>G (p.Asp533Gly) c.1757A>G (p.Asp586Gly) c.1625A>G (p.Asp542Gly) c.1787A>G (p.Asp596Gly) c.1274A>G (p.Asp425Gly) | |
| X | g.2934842T>G | CA412275045 | ARSL | c.1760A>C (p.Asp587Ala) c.1835A>C (p.Asp612Ala) c.1637A>C (p.Asp546Ala) c.1199A>C (p.Asp400Ala) n.1540A>C c.1748A>C (p.Asp583Ala) c.1313A>C (p.Asp438Ala) c.1598A>C (p.Asp533Ala) c.1757A>C (p.Asp586Ala) c.1625A>C (p.Asp542Ala) c.1787A>C (p.Asp596Ala) c.1274A>C (p.Asp425Ala) | |
| X | g.2934843C>A | CA412275046 | ARSL | c.1759G>T (p.Asp587Tyr) c.1834G>T (p.Asp612Tyr) c.1636G>T (p.Asp546Tyr) c.1198G>T (p.Asp400Tyr) n.1539G>T c.1747G>T (p.Asp583Tyr) c.1312G>T (p.Asp438Tyr) c.1597G>T (p.Asp533Tyr) c.1756G>T (p.Asp586Tyr) c.1624G>T (p.Asp542Tyr) c.1786G>T (p.Asp596Tyr) c.1273G>T (p.Asp425Tyr) | gnomAD v4 |
| X | g.2934843C= | CA2412580487 | ARSL | c.1759G= (p.Asp587=) c.1834G= (p.Asp612=) c.1636G= (p.Asp546=) c.1198G= (p.Asp400=) n.1539G= c.1747G= (p.Asp583=) c.1312G= (p.Asp438=) c.1597G= (p.Asp533=) c.1756G= (p.Asp586=) c.1624G= (p.Asp542=) c.1786G= (p.Asp596=) c.1273G= (p.Asp425=) | |
| X | g.2934843C>G | CA412275047 | ARSL | c.1759G>C (p.Asp587His) c.1834G>C (p.Asp612His) c.1636G>C (p.Asp546His) c.1198G>C (p.Asp400His) n.1539G>C c.1747G>C (p.Asp583His) c.1312G>C (p.Asp438His) c.1597G>C (p.Asp533His) c.1756G>C (p.Asp586His) c.1624G>C (p.Asp542His) c.1786G>C (p.Asp596His) c.1273G>C (p.Asp425His) | |
| X | g.2934843C>T | CA325999040 | ARSL | c.1759G>A (p.Asp587Asn) c.1834G>A (p.Asp612Asn) c.1636G>A (p.Asp546Asn) c.1198G>A (p.Asp400Asn) n.1539G>A c.1747G>A (p.Asp583Asn) c.1312G>A (p.Asp438Asn) c.1597G>A (p.Asp533Asn) c.1756G>A (p.Asp586Asn) c.1624G>A (p.Asp542Asn) c.1786G>A (p.Asp596Asn) c.1273G>A (p.Asp425Asn) | ClinVar dbSNP gnomAD v4 |
| X | g.2934844A= | CA2412580488 | ARSL | c.1758T= (p.Asp586=) c.1833T= (p.Asp611=) c.1635T= (p.Asp545=) c.1197T= (p.Asp399=) n.1538T= c.1746T= (p.Asp582=) c.1311T= (p.Asp437=) c.1596T= (p.Asp532=) c.1755T= (p.Asp585=) c.1623T= (p.Asp541=) c.1785T= (p.Asp595=) c.1272T= (p.Asp424=) | |
| X | g.2934844A>C | CA412275048 | ARSL | c.1758T>G (p.Asp586Glu) c.1833T>G (p.Asp611Glu) c.1635T>G (p.Asp545Glu) c.1197T>G (p.Asp399Glu) n.1538T>G c.1746T>G (p.Asp582Glu) c.1311T>G (p.Asp437Glu) c.1596T>G (p.Asp532Glu) c.1755T>G (p.Asp585Glu) c.1623T>G (p.Asp541Glu) c.1785T>G (p.Asp595Glu) c.1272T>G (p.Asp424Glu) | |
| X | g.2934844A>G | CA10337967 | ARSL | c.1758T>C (p.Asp586=) c.1833T>C (p.Asp611=) c.1635T>C (p.Asp545=) c.1197T>C (p.Asp399=) n.1538T>C c.1746T>C (p.Asp582=) c.1311T>C (p.Asp437=) c.1596T>C (p.Asp532=) c.1755T>C (p.Asp585=) c.1623T>C (p.Asp541=) c.1785T>C (p.Asp595=) c.1272T>C (p.Asp424=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.2934844A>T | CA412275049 | ARSL | c.1758T>A (p.Asp586Glu) c.1833T>A (p.Asp611Glu) c.1635T>A (p.Asp545Glu) c.1197T>A (p.Asp399Glu) n.1538T>A c.1746T>A (p.Asp582Glu) c.1311T>A (p.Asp437Glu) c.1596T>A (p.Asp532Glu) c.1755T>A (p.Asp585Glu) c.1623T>A (p.Asp541Glu) c.1785T>A (p.Asp595Glu) c.1272T>A (p.Asp424Glu) | |
| X | g.2934845T>A | CA412275050 | ARSL | c.1757A>T (p.Asp586Val) c.1832A>T (p.Asp611Val) c.1634A>T (p.Asp545Val) c.1196A>T (p.Asp399Val) n.1537A>T c.1745A>T (p.Asp582Val) c.1310A>T (p.Asp437Val) c.1595A>T (p.Asp532Val) c.1754A>T (p.Asp585Val) c.1622A>T (p.Asp541Val) c.1784A>T (p.Asp595Val) c.1271A>T (p.Asp424Val) | |
| X | g.2934845T>C | CA412275051 | ARSL | c.1757A>G (p.Asp586Gly) c.1832A>G (p.Asp611Gly) c.1634A>G (p.Asp545Gly) c.1196A>G (p.Asp399Gly) n.1537A>G c.1745A>G (p.Asp582Gly) c.1310A>G (p.Asp437Gly) c.1595A>G (p.Asp532Gly) c.1754A>G (p.Asp585Gly) c.1622A>G (p.Asp541Gly) c.1784A>G (p.Asp595Gly) c.1271A>G (p.Asp424Gly) | gnomAD v4 |
| X | g.2934845T>G | CA412275052 | ARSL | c.1757A>C (p.Asp586Ala) c.1832A>C (p.Asp611Ala) c.1634A>C (p.Asp545Ala) c.1196A>C (p.Asp399Ala) n.1537A>C c.1745A>C (p.Asp582Ala) c.1310A>C (p.Asp437Ala) c.1595A>C (p.Asp532Ala) c.1754A>C (p.Asp585Ala) c.1622A>C (p.Asp541Ala) c.1784A>C (p.Asp595Ala) c.1271A>C (p.Asp424Ala) | |
| X | g.2934846C>A | CA412275053 | ARSL | c.1756G>T (p.Asp586Tyr) c.1831G>T (p.Asp611Tyr) c.1633G>T (p.Asp545Tyr) c.1195G>T (p.Asp399Tyr) n.1536G>T c.1744G>T (p.Asp582Tyr) c.1309G>T (p.Asp437Tyr) c.1594G>T (p.Asp532Tyr) c.1753G>T (p.Asp585Tyr) c.1621G>T (p.Asp541Tyr) c.1783G>T (p.Asp595Tyr) c.1270G>T (p.Asp424Tyr) | |
| X | g.2934846C= | CA2412580489 | ARSL | c.1756G= (p.Asp586=) c.1831G= (p.Asp611=) c.1633G= (p.Asp545=) c.1195G= (p.Asp399=) n.1536G= c.1744G= (p.Asp582=) c.1309G= (p.Asp437=) c.1594G= (p.Asp532=) c.1753G= (p.Asp585=) c.1621G= (p.Asp541=) c.1783G= (p.Asp595=) c.1270G= (p.Asp424=) | |
| X | g.2934846C>G | CA412275054 | ARSL | c.1756G>C (p.Asp586His) c.1831G>C (p.Asp611His) c.1633G>C (p.Asp545His) c.1195G>C (p.Asp399His) n.1536G>C c.1744G>C (p.Asp582His) c.1309G>C (p.Asp437His) c.1594G>C (p.Asp532His) c.1753G>C (p.Asp585His) c.1621G>C (p.Asp541His) c.1783G>C (p.Asp595His) c.1270G>C (p.Asp424His) | |
| X | g.2934846C>T | CA412275055 | ARSL | c.1756G>A (p.Asp586Asn) c.1831G>A (p.Asp611Asn) c.1633G>A (p.Asp545Asn) c.1195G>A (p.Asp399Asn) n.1536G>A c.1744G>A (p.Asp582Asn) c.1309G>A (p.Asp437Asn) c.1594G>A (p.Asp532Asn) c.1753G>A (p.Asp585Asn) c.1621G>A (p.Asp541Asn) c.1783G>A (p.Asp595Asn) c.1270G>A (p.Asp424Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.2934847T>A | CA412275056 | ARSL | c.1755A>T (p.Glu585Asp) c.1830A>T (p.Glu610Asp) c.1632A>T (p.Glu544Asp) c.1194A>T (p.Glu398Asp) n.1535A>T c.1743A>T (p.Glu581Asp) c.1308A>T (p.Glu436Asp) c.1593A>T (p.Glu531Asp) c.1752A>T (p.Glu584Asp) c.1620A>T (p.Glu540Asp) c.1782A>T (p.Glu594Asp) c.1269A>T (p.Glu423Asp) | |
| X | g.2934847T>C | CA515396268 | ARSL | c.1755A>G (p.Glu585=) c.1830A>G (p.Glu610=) c.1632A>G (p.Glu544=) c.1194A>G (p.Glu398=) n.1535A>G c.1743A>G (p.Glu581=) c.1308A>G (p.Glu436=) c.1593A>G (p.Glu531=) c.1752A>G (p.Glu584=) c.1620A>G (p.Glu540=) c.1782A>G (p.Glu594=) c.1269A>G (p.Glu423=) | |
| X | g.2934847T>G | CA412275057 | ARSL | c.1755A>C (p.Glu585Asp) c.1830A>C (p.Glu610Asp) c.1632A>C (p.Glu544Asp) c.1194A>C (p.Glu398Asp) n.1535A>C c.1743A>C (p.Glu581Asp) c.1308A>C (p.Glu436Asp) c.1593A>C (p.Glu531Asp) c.1752A>C (p.Glu584Asp) c.1620A>C (p.Glu540Asp) c.1782A>C (p.Glu594Asp) c.1269A>C (p.Glu423Asp) | |
| X | g.2934848del | CA2579543782 | ARSL | c.1755del (p.Asp586MetfsTer9) c.1830del (p.Asp611MetfsTer9) c.1632del (p.Asp545MetfsTer9) c.1194del (p.Asp399MetfsTer?) n.1535del c.1743del (p.Asp582MetfsTer9) c.1308del (p.Asp437MetfsTer?) c.1593del (p.Asp532MetfsTer9) c.1830del (p.Asp611MetfsTer?) c.1752del (p.Asp585MetfsTer9) c.1620del (p.Asp541MetfsTer9) c.1782del (p.Asp595MetfsTer9) c.1269del (p.Asp424MetfsTer9) c.1194del (p.Asp399MetfsTer9) | |
| X | g.2934848T>A | CA412275058 | ARSL | c.1754A>T (p.Glu585Val) c.1829A>T (p.Glu610Val) c.1631A>T (p.Glu544Val) c.1193A>T (p.Glu398Val) n.1534A>T c.1742A>T (p.Glu581Val) c.1307A>T (p.Glu436Val) c.1592A>T (p.Glu531Val) c.1751A>T (p.Glu584Val) c.1619A>T (p.Glu540Val) c.1781A>T (p.Glu594Val) c.1268A>T (p.Glu423Val) | |
| X | g.2934848T>C | CA412275059 | ARSL | c.1754A>G (p.Glu585Gly) c.1829A>G (p.Glu610Gly) c.1631A>G (p.Glu544Gly) c.1193A>G (p.Glu398Gly) n.1534A>G c.1742A>G (p.Glu581Gly) c.1307A>G (p.Glu436Gly) c.1592A>G (p.Glu531Gly) c.1751A>G (p.Glu584Gly) c.1619A>G (p.Glu540Gly) c.1781A>G (p.Glu594Gly) c.1268A>G (p.Glu423Gly) | |
| X | g.2934848T>G | CA412275060 | ARSL | c.1754A>C (p.Glu585Ala) c.1829A>C (p.Glu610Ala) c.1631A>C (p.Glu544Ala) c.1193A>C (p.Glu398Ala) n.1534A>C c.1742A>C (p.Glu581Ala) c.1307A>C (p.Glu436Ala) c.1592A>C (p.Glu531Ala) c.1751A>C (p.Glu584Ala) c.1619A>C (p.Glu540Ala) c.1781A>C (p.Glu594Ala) c.1268A>C (p.Glu423Ala) | |
| X | g.2934849C>A | CA412275063 | ARSL | c.1753G>T (p.Glu585Ter) c.1828G>T (p.Glu610Ter) c.1630G>T (p.Glu544Ter) c.1192G>T (p.Glu398Ter) n.1533G>T c.1741G>T (p.Glu581Ter) c.1306G>T (p.Glu436Ter) c.1591G>T (p.Glu531Ter) c.1750G>T (p.Glu584Ter) c.1618G>T (p.Glu540Ter) c.1780G>T (p.Glu594Ter) c.1267G>T (p.Glu423Ter) | |
| X | g.2934849C= | CA2412580490 | ARSL | c.1753G= (p.Glu585=) c.1828G= (p.Glu610=) c.1630G= (p.Glu544=) c.1192G= (p.Glu398=) n.1533G= c.1741G= (p.Glu581=) c.1306G= (p.Glu436=) c.1591G= (p.Glu531=) c.1750G= (p.Glu584=) c.1618G= (p.Glu540=) c.1780G= (p.Glu594=) c.1267G= (p.Glu423=) | |
| X | g.2934849C>G | CA412275062 | ARSL | c.1753G>C (p.Glu585Gln) c.1828G>C (p.Glu610Gln) c.1630G>C (p.Glu544Gln) c.1192G>C (p.Glu398Gln) n.1533G>C c.1741G>C (p.Glu581Gln) c.1306G>C (p.Glu436Gln) c.1591G>C (p.Glu531Gln) c.1750G>C (p.Glu584Gln) c.1618G>C (p.Glu540Gln) c.1780G>C (p.Glu594Gln) c.1267G>C (p.Glu423Gln) | |
| X | g.2934849C>T | CA412275061 | ARSL | c.1753G>A (p.Glu585Lys) c.1828G>A (p.Glu610Lys) c.1630G>A (p.Glu544Lys) c.1192G>A (p.Glu398Lys) n.1533G>A c.1741G>A (p.Glu581Lys) c.1306G>A (p.Glu436Lys) c.1591G>A (p.Glu531Lys) c.1750G>A (p.Glu584Lys) c.1618G>A (p.Glu540Lys) c.1780G>A (p.Glu594Lys) c.1267G>A (p.Glu423Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.2934851del | CA2579543783 | ARSL | c.1753del (p.Glu585LysfsTer10) c.1828del (p.Glu610LysfsTer10) c.1630del (p.Glu544LysfsTer10) c.1192del (p.Glu398LysfsTer?) n.1533del c.1741del (p.Glu581LysfsTer10) c.1306del (p.Glu436LysfsTer?) c.1591del (p.Glu531LysfsTer10) c.1828del (p.Glu610LysfsTer?) c.1750del (p.Glu584LysfsTer10) c.1618del (p.Glu540LysfsTer10) c.1780del (p.Glu594LysfsTer10) c.1267del (p.Glu423LysfsTer10) c.1192del (p.Glu398LysfsTer10) | |
| X | g.2934850C>A | CA412275064 | ARSL | c.1752G>T (p.Arg584Ser) c.1827G>T (p.Arg609Ser) c.1629G>T (p.Arg543Ser) c.1191G>T (p.Arg397Ser) n.1532G>T c.1740G>T (p.Arg580Ser) c.1305G>T (p.Arg435Ser) c.1590G>T (p.Arg530Ser) c.1749G>T (p.Arg583Ser) c.1617G>T (p.Arg539Ser) c.1779G>T (p.Arg593Ser) c.1266G>T (p.Arg422Ser) | |
| X | g.2934850C= | CA2412580491 | ARSL | c.1752G= (p.Arg584=) c.1827G= (p.Arg609=) c.1629G= (p.Arg543=) c.1191G= (p.Arg397=) n.1532G= c.1740G= (p.Arg580=) c.1305G= (p.Arg435=) c.1590G= (p.Arg530=) c.1749G= (p.Arg583=) c.1617G= (p.Arg539=) c.1779G= (p.Arg593=) c.1266G= (p.Arg422=) | |
| X | g.2934850C>G | CA412275065 | ARSL | c.1752G>C (p.Arg584Ser) c.1827G>C (p.Arg609Ser) c.1629G>C (p.Arg543Ser) c.1191G>C (p.Arg397Ser) n.1532G>C c.1740G>C (p.Arg580Ser) c.1305G>C (p.Arg435Ser) c.1590G>C (p.Arg530Ser) c.1749G>C (p.Arg583Ser) c.1617G>C (p.Arg539Ser) c.1779G>C (p.Arg593Ser) c.1266G>C (p.Arg422Ser) | dbSNP |
| X | g.2934850C>T | CA515396275 | ARSL | c.1752G>A (p.Arg584=) c.1827G>A (p.Arg609=) c.1629G>A (p.Arg543=) c.1191G>A (p.Arg397=) n.1532G>A c.1740G>A (p.Arg580=) c.1305G>A (p.Arg435=) c.1590G>A (p.Arg530=) c.1749G>A (p.Arg583=) c.1617G>A (p.Arg539=) c.1779G>A (p.Arg593=) c.1266G>A (p.Arg422=) | |
| X | g.2934851C>A | CA412275066 | ARSL | c.1751G>T (p.Arg584Met) c.1826G>T (p.Arg609Met) c.1628G>T (p.Arg543Met) c.1190G>T (p.Arg397Met) n.1531G>T c.1739G>T (p.Arg580Met) c.1304G>T (p.Arg435Met) c.1589G>T (p.Arg530Met) c.1748G>T (p.Arg583Met) c.1616G>T (p.Arg539Met) c.1778G>T (p.Arg593Met) c.1265G>T (p.Arg422Met) | gnomAD v4 |
| X | g.2934851C>G | CA412275067 | ARSL | c.1751G>C (p.Arg584Thr) c.1826G>C (p.Arg609Thr) c.1628G>C (p.Arg543Thr) c.1190G>C (p.Arg397Thr) n.1531G>C c.1739G>C (p.Arg580Thr) c.1304G>C (p.Arg435Thr) c.1589G>C (p.Arg530Thr) c.1748G>C (p.Arg583Thr) c.1616G>C (p.Arg539Thr) c.1778G>C (p.Arg593Thr) c.1265G>C (p.Arg422Thr) | gnomAD v4 |
| X | g.2934851C>T | CA412275068 | ARSL | c.1751G>A (p.Arg584Lys) c.1826G>A (p.Arg609Lys) c.1628G>A (p.Arg543Lys) c.1190G>A (p.Arg397Lys) n.1531G>A c.1739G>A (p.Arg580Lys) c.1304G>A (p.Arg435Lys) c.1589G>A (p.Arg530Lys) c.1748G>A (p.Arg583Lys) c.1616G>A (p.Arg539Lys) c.1778G>A (p.Arg593Lys) c.1265G>A (p.Arg422Lys) | |
| X | g.2934852T>A | CA412275069 | ARSL | c.1750A>T (p.Arg584Trp) c.1825A>T (p.Arg609Trp) c.1627A>T (p.Arg543Trp) c.1189A>T (p.Arg397Trp) n.1530A>T c.1738A>T (p.Arg580Trp) c.1303A>T (p.Arg435Trp) c.1588A>T (p.Arg530Trp) c.1747A>T (p.Arg583Trp) c.1615A>T (p.Arg539Trp) c.1777A>T (p.Arg593Trp) c.1264A>T (p.Arg422Trp) | |
| X | g.2934852T>C | CA10337968 | ARSL | c.1750A>G (p.Arg584Gly) c.1825A>G (p.Arg609Gly) c.1627A>G (p.Arg543Gly) c.1189A>G (p.Arg397Gly) n.1530A>G c.1738A>G (p.Arg580Gly) c.1303A>G (p.Arg435Gly) c.1588A>G (p.Arg530Gly) c.1747A>G (p.Arg583Gly) c.1615A>G (p.Arg539Gly) c.1777A>G (p.Arg593Gly) c.1264A>G (p.Arg422Gly) | dbSNP ExAC gnomAD v2 |
| X | g.2934852T>G | CA515396278 | ARSL | c.1750A>C (p.Arg584=) c.1825A>C (p.Arg609=) c.1627A>C (p.Arg543=) c.1189A>C (p.Arg397=) n.1530A>C c.1738A>C (p.Arg580=) c.1303A>C (p.Arg435=) c.1588A>C (p.Arg530=) c.1747A>C (p.Arg583=) c.1615A>C (p.Arg539=) c.1777A>C (p.Arg593=) c.1264A>C (p.Arg422=) | |
| X | g.2934852T= | CA2412580492 | ARSL | c.1750A= (p.Arg584=) c.1825A= (p.Arg609=) c.1627A= (p.Arg543=) c.1189A= (p.Arg397=) n.1530A= c.1738A= (p.Arg580=) c.1303A= (p.Arg435=) c.1588A= (p.Arg530=) c.1747A= (p.Arg583=) c.1615A= (p.Arg539=) c.1777A= (p.Arg593=) c.1264A= (p.Arg422=) | |
| X | g.2934853A= | CA2412580493 | ARSL | c.1749T= (p.Leu583=) c.1824T= (p.Leu608=) c.1626T= (p.Leu542=) c.1188T= (p.Leu396=) n.1529T= c.1737T= (p.Leu579=) c.1302T= (p.Leu434=) c.1587T= (p.Leu529=) c.1746T= (p.Leu582=) c.1614T= (p.Leu538=) c.1776T= (p.Leu592=) c.1263T= (p.Leu421=) | |
| X | g.2934853A>C | CA515396280 | ARSL | c.1749T>G (p.Leu583=) c.1824T>G (p.Leu608=) c.1626T>G (p.Leu542=) c.1188T>G (p.Leu396=) n.1529T>G c.1737T>G (p.Leu579=) c.1302T>G (p.Leu434=) c.1587T>G (p.Leu529=) c.1746T>G (p.Leu582=) c.1614T>G (p.Leu538=) c.1776T>G (p.Leu592=) c.1263T>G (p.Leu421=) | dbSNP gnomAD v4 |
| X | g.2934853A>G | CA515396282 | ARSL | c.1749T>C (p.Leu583=) c.1824T>C (p.Leu608=) c.1626T>C (p.Leu542=) c.1188T>C (p.Leu396=) n.1529T>C c.1737T>C (p.Leu579=) c.1302T>C (p.Leu434=) c.1587T>C (p.Leu529=) c.1746T>C (p.Leu582=) c.1614T>C (p.Leu538=) c.1776T>C (p.Leu592=) c.1263T>C (p.Leu421=) | |
| X | g.2934853A>T | CA515396284 | ARSL | c.1749T>A (p.Leu583=) c.1824T>A (p.Leu608=) c.1626T>A (p.Leu542=) c.1188T>A (p.Leu396=) n.1529T>A c.1737T>A (p.Leu579=) c.1302T>A (p.Leu434=) c.1587T>A (p.Leu529=) c.1746T>A (p.Leu582=) c.1614T>A (p.Leu538=) c.1776T>A (p.Leu592=) c.1263T>A (p.Leu421=) | |
| X | g.2934854A>C | CA412275070 | ARSL | c.1748T>G (p.Leu583Arg) c.1823T>G (p.Leu608Arg) c.1625T>G (p.Leu542Arg) c.1187T>G (p.Leu396Arg) n.1528T>G c.1736T>G (p.Leu579Arg) c.1301T>G (p.Leu434Arg) c.1586T>G (p.Leu529Arg) c.1745T>G (p.Leu582Arg) c.1613T>G (p.Leu538Arg) c.1775T>G (p.Leu592Arg) c.1262T>G (p.Leu421Arg) | |
| X | g.2934854A>G | CA412275071 | ARSL | c.1748T>C (p.Leu583Pro) c.1823T>C (p.Leu608Pro) c.1625T>C (p.Leu542Pro) c.1187T>C (p.Leu396Pro) n.1528T>C c.1736T>C (p.Leu579Pro) c.1301T>C (p.Leu434Pro) c.1586T>C (p.Leu529Pro) c.1745T>C (p.Leu582Pro) c.1613T>C (p.Leu538Pro) c.1775T>C (p.Leu592Pro) c.1262T>C (p.Leu421Pro) | |
| X | g.2934854A>T | CA412275072 | ARSL | c.1748T>A (p.Leu583His) c.1823T>A (p.Leu608His) c.1625T>A (p.Leu542His) c.1187T>A (p.Leu396His) n.1528T>A c.1736T>A (p.Leu579His) c.1301T>A (p.Leu434His) c.1586T>A (p.Leu529His) c.1745T>A (p.Leu582His) c.1613T>A (p.Leu538His) c.1775T>A (p.Leu592His) c.1262T>A (p.Leu421His) | |
| X | g.2934855G>A | CA412275073 | ARSL | c.1747C>T (p.Leu583Phe) c.1822C>T (p.Leu608Phe) c.1624C>T (p.Leu542Phe) c.1186C>T (p.Leu396Phe) n.1527C>T c.1735C>T (p.Leu579Phe) c.1300C>T (p.Leu434Phe) c.1585C>T (p.Leu529Phe) c.1744C>T (p.Leu582Phe) c.1612C>T (p.Leu538Phe) c.1774C>T (p.Leu592Phe) c.1261C>T (p.Leu421Phe) | |
| X | g.2934855G>C | CA412275074 | ARSL | c.1747C>G (p.Leu583Val) c.1822C>G (p.Leu608Val) c.1624C>G (p.Leu542Val) c.1186C>G (p.Leu396Val) n.1527C>G c.1735C>G (p.Leu579Val) c.1300C>G (p.Leu434Val) c.1585C>G (p.Leu529Val) c.1744C>G (p.Leu582Val) c.1612C>G (p.Leu538Val) c.1774C>G (p.Leu592Val) c.1261C>G (p.Leu421Val) | COSMIC COSMIC |
| X | g.2934855G>T | CA412275075 | ARSL | c.1747C>A (p.Leu583Ile) c.1822C>A (p.Leu608Ile) c.1624C>A (p.Leu542Ile) c.1186C>A (p.Leu396Ile) n.1527C>A c.1735C>A (p.Leu579Ile) c.1300C>A (p.Leu434Ile) c.1585C>A (p.Leu529Ile) c.1744C>A (p.Leu582Ile) c.1612C>A (p.Leu538Ile) c.1774C>A (p.Leu592Ile) c.1261C>A (p.Leu421Ile) | |
| X | g.2934856G>A | CA515396285 | ARSL | c.1746C>T (p.Cys582=) c.1821C>T (p.Cys607=) c.1623C>T (p.Cys541=) c.1185C>T (p.Cys395=) n.1526C>T c.1734C>T (p.Cys578=) c.1299C>T (p.Cys433=) c.1584C>T (p.Cys528=) c.1743C>T (p.Cys581=) c.1611C>T (p.Cys537=) c.1773C>T (p.Cys591=) c.1260C>T (p.Cys420=) | dbSNP |
| X | g.2934856G>C | CA412275077 | ARSL | c.1746C>G (p.Cys582Trp) c.1821C>G (p.Cys607Trp) c.1623C>G (p.Cys541Trp) c.1185C>G (p.Cys395Trp) n.1526C>G c.1734C>G (p.Cys578Trp) c.1299C>G (p.Cys433Trp) c.1584C>G (p.Cys528Trp) c.1743C>G (p.Cys581Trp) c.1611C>G (p.Cys537Trp) c.1773C>G (p.Cys591Trp) c.1260C>G (p.Cys420Trp) | |
| X | g.2934856G= | CA2412580494 | ARSL | c.1746C= (p.Cys582=) c.1821C= (p.Cys607=) c.1623C= (p.Cys541=) c.1185C= (p.Cys395=) n.1526C= c.1734C= (p.Cys578=) c.1299C= (p.Cys433=) c.1584C= (p.Cys528=) c.1743C= (p.Cys581=) c.1611C= (p.Cys537=) c.1773C= (p.Cys591=) c.1260C= (p.Cys420=) | |
| X | g.2934856G>T | CA412275076 | ARSL | c.1746C>A (p.Cys582Ter) c.1821C>A (p.Cys607Ter) c.1623C>A (p.Cys541Ter) c.1185C>A (p.Cys395Ter) n.1526C>A c.1734C>A (p.Cys578Ter) c.1299C>A (p.Cys433Ter) c.1584C>A (p.Cys528Ter) c.1743C>A (p.Cys581Ter) c.1611C>A (p.Cys537Ter) c.1773C>A (p.Cys591Ter) c.1260C>A (p.Cys420Ter) | |
| X | g.2934857C>A | CA412275078 | ARSL | c.1745G>T (p.Cys582Phe) c.1820G>T (p.Cys607Phe) c.1622G>T (p.Cys541Phe) c.1184G>T (p.Cys395Phe) n.1525G>T c.1733G>T (p.Cys578Phe) c.1298G>T (p.Cys433Phe) c.1583G>T (p.Cys528Phe) c.1742G>T (p.Cys581Phe) c.1610G>T (p.Cys537Phe) c.1772G>T (p.Cys591Phe) c.1259G>T (p.Cys420Phe) | gnomAD v4 |
| X | g.2934857C>G | CA412275080 | ARSL | c.1745G>C (p.Cys582Ser) c.1820G>C (p.Cys607Ser) c.1622G>C (p.Cys541Ser) c.1184G>C (p.Cys395Ser) n.1525G>C c.1733G>C (p.Cys578Ser) c.1298G>C (p.Cys433Ser) c.1583G>C (p.Cys528Ser) c.1742G>C (p.Cys581Ser) c.1610G>C (p.Cys537Ser) c.1772G>C (p.Cys591Ser) c.1259G>C (p.Cys420Ser) | |
| X | g.2934857C>T | CA412275079 | ARSL | c.1745G>A (p.Cys582Tyr) c.1820G>A (p.Cys607Tyr) c.1622G>A (p.Cys541Tyr) c.1184G>A (p.Cys395Tyr) n.1525G>A c.1733G>A (p.Cys578Tyr) c.1298G>A (p.Cys433Tyr) c.1583G>A (p.Cys528Tyr) c.1742G>A (p.Cys581Tyr) c.1610G>A (p.Cys537Tyr) c.1772G>A (p.Cys591Tyr) c.1259G>A (p.Cys420Tyr) | |
| X | g.2934858A>C | CA412275081 | ARSL | c.1744T>G (p.Cys582Gly) c.1819T>G (p.Cys607Gly) c.1621T>G (p.Cys541Gly) c.1183T>G (p.Cys395Gly) n.1524T>G c.1732T>G (p.Cys578Gly) c.1297T>G (p.Cys433Gly) c.1582T>G (p.Cys528Gly) c.1741T>G (p.Cys581Gly) c.1609T>G (p.Cys537Gly) c.1771T>G (p.Cys591Gly) c.1258T>G (p.Cys420Gly) | |
| X | g.2934858A>G | CA412275082 | ARSL | c.1744T>C (p.Cys582Arg) c.1819T>C (p.Cys607Arg) c.1621T>C (p.Cys541Arg) c.1183T>C (p.Cys395Arg) n.1524T>C c.1732T>C (p.Cys578Arg) c.1297T>C (p.Cys433Arg) c.1582T>C (p.Cys528Arg) c.1741T>C (p.Cys581Arg) c.1609T>C (p.Cys537Arg) c.1771T>C (p.Cys591Arg) c.1258T>C (p.Cys420Arg) | |
| X | g.2934858A>T | CA412275083 | ARSL | c.1744T>A (p.Cys582Ser) c.1819T>A (p.Cys607Ser) c.1621T>A (p.Cys541Ser) c.1183T>A (p.Cys395Ser) n.1524T>A c.1732T>A (p.Cys578Ser) c.1297T>A (p.Cys433Ser) c.1582T>A (p.Cys528Ser) c.1741T>A (p.Cys581Ser) c.1609T>A (p.Cys537Ser) c.1771T>A (p.Cys591Ser) c.1258T>A (p.Cys420Ser) | |
| X | g.2934859C>A | CA412275084 | ARSL | c.1743G>T (p.Trp581Cys) c.1818G>T (p.Trp606Cys) c.1620G>T (p.Trp540Cys) c.1182G>T (p.Trp394Cys) n.1523G>T c.1731G>T (p.Trp577Cys) c.1296G>T (p.Trp432Cys) c.1581G>T (p.Trp527Cys) c.1740G>T (p.Trp580Cys) c.1608G>T (p.Trp536Cys) c.1770G>T (p.Trp590Cys) c.1257G>T (p.Trp419Cys) | |
| X | g.2934859C= | CA2412580495 | ARSL | c.1743G= (p.Trp581=) c.1818G= (p.Trp606=) c.1620G= (p.Trp540=) c.1182G= (p.Trp394=) n.1523G= c.1731G= (p.Trp577=) c.1296G= (p.Trp432=) c.1581G= (p.Trp527=) c.1740G= (p.Trp580=) c.1608G= (p.Trp536=) c.1770G= (p.Trp590=) c.1257G= (p.Trp419=) | |
| X | g.2934859C>G | CA412275085 | ARSL | c.1743G>C (p.Trp581Cys) c.1818G>C (p.Trp606Cys) c.1620G>C (p.Trp540Cys) c.1182G>C (p.Trp394Cys) n.1523G>C c.1731G>C (p.Trp577Cys) c.1296G>C (p.Trp432Cys) c.1581G>C (p.Trp527Cys) c.1740G>C (p.Trp580Cys) c.1608G>C (p.Trp536Cys) c.1770G>C (p.Trp590Cys) c.1257G>C (p.Trp419Cys) | |
| X | g.2934859C>T | CA341097 | ARSL | c.1743G>A (p.Trp581Ter) c.1818G>A (p.Trp606Ter) c.1620G>A (p.Trp540Ter) c.1182G>A (p.Trp394Ter) n.1523G>A c.1731G>A (p.Trp577Ter) c.1296G>A (p.Trp432Ter) c.1581G>A (p.Trp527Ter) c.1740G>A (p.Trp580Ter) c.1608G>A (p.Trp536Ter) c.1770G>A (p.Trp590Ter) c.1257G>A (p.Trp419Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.2934860del | CA2693015557 | ARSL | c.1743del (p.Trp581CysfsTer14) c.1818del (p.Trp606CysfsTer14) c.1620del (p.Trp540CysfsTer14) c.1182del (p.Trp394CysfsTer?) n.1523del c.1731del (p.Trp577CysfsTer14) c.1296del (p.Trp432CysfsTer?) c.1581del (p.Trp527CysfsTer14) c.1818del (p.Trp606CysfsTer?) c.1740del (p.Trp580CysfsTer14) c.1608del (p.Trp536CysfsTer14) c.1770del (p.Trp590CysfsTer14) c.1257del (p.Trp419CysfsTer14) c.1182del (p.Trp394CysfsTer14) | gnomAD v4 |
| X | g.2934860C>A | CA412275086 | ARSL | c.1742G>T (p.Trp581Leu) c.1817G>T (p.Trp606Leu) c.1619G>T (p.Trp540Leu) c.1181G>T (p.Trp394Leu) n.1522G>T c.1730G>T (p.Trp577Leu) c.1295G>T (p.Trp432Leu) c.1580G>T (p.Trp527Leu) c.1739G>T (p.Trp580Leu) c.1607G>T (p.Trp536Leu) c.1769G>T (p.Trp590Leu) c.1256G>T (p.Trp419Leu) | gnomAD v4 |
| X | g.2934860C= | CA2412580496 | ARSL | c.1742G= (p.Trp581=) c.1817G= (p.Trp606=) c.1619G= (p.Trp540=) c.1181G= (p.Trp394=) n.1522G= c.1730G= (p.Trp577=) c.1295G= (p.Trp432=) c.1580G= (p.Trp527=) c.1739G= (p.Trp580=) c.1607G= (p.Trp536=) c.1769G= (p.Trp590=) c.1256G= (p.Trp419=) | |
| X | g.2934860C>G | CA412275087 | ARSL | c.1742G>C (p.Trp581Ser) c.1817G>C (p.Trp606Ser) c.1619G>C (p.Trp540Ser) c.1181G>C (p.Trp394Ser) n.1522G>C c.1730G>C (p.Trp577Ser) c.1295G>C (p.Trp432Ser) c.1580G>C (p.Trp527Ser) c.1739G>C (p.Trp580Ser) c.1607G>C (p.Trp536Ser) c.1769G>C (p.Trp590Ser) c.1256G>C (p.Trp419Ser) | |
| X | g.2934860C>T | CA412275088 | ARSL | c.1742G>A (p.Trp581Ter) c.1817G>A (p.Trp606Ter) c.1619G>A (p.Trp540Ter) c.1181G>A (p.Trp394Ter) n.1522G>A c.1730G>A (p.Trp577Ter) c.1295G>A (p.Trp432Ter) c.1580G>A (p.Trp527Ter) c.1739G>A (p.Trp580Ter) c.1607G>A (p.Trp536Ter) c.1769G>A (p.Trp590Ter) c.1256G>A (p.Trp419Ter) | dbSNP |
| X | g.2934861A>C | CA412275089 | ARSL | c.1741T>G (p.Trp581Gly) c.1816T>G (p.Trp606Gly) c.1618T>G (p.Trp540Gly) c.1180T>G (p.Trp394Gly) n.1521T>G c.1729T>G (p.Trp577Gly) c.1294T>G (p.Trp432Gly) c.1579T>G (p.Trp527Gly) c.1738T>G (p.Trp580Gly) c.1606T>G (p.Trp536Gly) c.1768T>G (p.Trp590Gly) c.1255T>G (p.Trp419Gly) | |
| X | g.2934861A>G | CA412275090 | ARSL | c.1741T>C (p.Trp581Arg) c.1816T>C (p.Trp606Arg) c.1618T>C (p.Trp540Arg) c.1180T>C (p.Trp394Arg) n.1521T>C c.1729T>C (p.Trp577Arg) c.1294T>C (p.Trp432Arg) c.1579T>C (p.Trp527Arg) c.1738T>C (p.Trp580Arg) c.1606T>C (p.Trp536Arg) c.1768T>C (p.Trp590Arg) c.1255T>C (p.Trp419Arg) | |
| X | g.2934861A>T | CA412275091 | ARSL | c.1741T>A (p.Trp581Arg) c.1816T>A (p.Trp606Arg) c.1618T>A (p.Trp540Arg) c.1180T>A (p.Trp394Arg) n.1521T>A c.1729T>A (p.Trp577Arg) c.1294T>A (p.Trp432Arg) c.1579T>A (p.Trp527Arg) c.1738T>A (p.Trp580Arg) c.1606T>A (p.Trp536Arg) c.1768T>A (p.Trp590Arg) c.1255T>A (p.Trp419Arg) | |
| X | g.2934862G>A | CA515396299 | ARSL | c.1740C>T (p.Cys580=) c.1815C>T (p.Cys605=) c.1617C>T (p.Cys539=) c.1179C>T (p.Cys393=) n.1520C>T c.1728C>T (p.Cys576=) c.1293C>T (p.Cys431=) c.1578C>T (p.Cys526=) c.1737C>T (p.Cys579=) c.1605C>T (p.Cys535=) c.1767C>T (p.Cys589=) c.1254C>T (p.Cys418=) | |
| X | g.2934862G>C | CA412275092 | ARSL | c.1740C>G (p.Cys580Trp) c.1815C>G (p.Cys605Trp) c.1617C>G (p.Cys539Trp) c.1179C>G (p.Cys393Trp) n.1520C>G c.1728C>G (p.Cys576Trp) c.1293C>G (p.Cys431Trp) c.1578C>G (p.Cys526Trp) c.1737C>G (p.Cys579Trp) c.1605C>G (p.Cys535Trp) c.1767C>G (p.Cys589Trp) c.1254C>G (p.Cys418Trp) | |
| X | g.2934862G>T | CA412275093 | ARSL | c.1740C>A (p.Cys580Ter) c.1815C>A (p.Cys605Ter) c.1617C>A (p.Cys539Ter) c.1179C>A (p.Cys393Ter) n.1520C>A c.1728C>A (p.Cys576Ter) c.1293C>A (p.Cys431Ter) c.1578C>A (p.Cys526Ter) c.1737C>A (p.Cys579Ter) c.1605C>A (p.Cys535Ter) c.1767C>A (p.Cys589Ter) c.1254C>A (p.Cys418Ter) | gnomAD v4 |
| X | g.2934863C>A | CA412275094 | ARSL | c.1739G>T (p.Cys580Phe) c.1814G>T (p.Cys605Phe) c.1616G>T (p.Cys539Phe) c.1178G>T (p.Cys393Phe) n.1519G>T c.1727G>T (p.Cys576Phe) c.1292G>T (p.Cys431Phe) c.1577G>T (p.Cys526Phe) c.1736G>T (p.Cys579Phe) c.1604G>T (p.Cys535Phe) c.1766G>T (p.Cys589Phe) c.1253G>T (p.Cys418Phe) | |
| X | g.2934863C>G | CA412275095 | ARSL | c.1739G>C (p.Cys580Ser) c.1814G>C (p.Cys605Ser) c.1616G>C (p.Cys539Ser) c.1178G>C (p.Cys393Ser) n.1519G>C c.1727G>C (p.Cys576Ser) c.1292G>C (p.Cys431Ser) c.1577G>C (p.Cys526Ser) c.1736G>C (p.Cys579Ser) c.1604G>C (p.Cys535Ser) c.1766G>C (p.Cys589Ser) c.1253G>C (p.Cys418Ser) | |
| X | g.2934863C>T | CA412275096 | ARSL | c.1739G>A (p.Cys580Tyr) c.1814G>A (p.Cys605Tyr) c.1616G>A (p.Cys539Tyr) c.1178G>A (p.Cys393Tyr) n.1519G>A c.1727G>A (p.Cys576Tyr) c.1292G>A (p.Cys431Tyr) c.1577G>A (p.Cys526Tyr) c.1736G>A (p.Cys579Tyr) c.1604G>A (p.Cys535Tyr) c.1766G>A (p.Cys589Tyr) c.1253G>A (p.Cys418Tyr) | |
| X | g.2934864A>C | CA412275097 | ARSL | c.1738T>G (p.Cys580Gly) c.1813T>G (p.Cys605Gly) c.1615T>G (p.Cys539Gly) c.1177T>G (p.Cys393Gly) n.1518T>G c.1726T>G (p.Cys576Gly) c.1291T>G (p.Cys431Gly) c.1576T>G (p.Cys526Gly) c.1735T>G (p.Cys579Gly) c.1603T>G (p.Cys535Gly) c.1765T>G (p.Cys589Gly) c.1252T>G (p.Cys418Gly) | |
| X | g.2934864A>G | CA412275098 | ARSL | c.1738T>C (p.Cys580Arg) c.1813T>C (p.Cys605Arg) c.1615T>C (p.Cys539Arg) c.1177T>C (p.Cys393Arg) n.1518T>C c.1726T>C (p.Cys576Arg) c.1291T>C (p.Cys431Arg) c.1576T>C (p.Cys526Arg) c.1735T>C (p.Cys579Arg) c.1603T>C (p.Cys535Arg) c.1765T>C (p.Cys589Arg) c.1252T>C (p.Cys418Arg) | |
| X | g.2934864A>T | CA412275099 | ARSL | c.1738T>A (p.Cys580Ser) c.1813T>A (p.Cys605Ser) c.1615T>A (p.Cys539Ser) c.1177T>A (p.Cys393Ser) n.1518T>A c.1726T>A (p.Cys576Ser) c.1291T>A (p.Cys431Ser) c.1576T>A (p.Cys526Ser) c.1735T>A (p.Cys579Ser) c.1603T>A (p.Cys535Ser) c.1765T>A (p.Cys589Ser) c.1252T>A (p.Cys418Ser) | |
| X | g.2934865G>A | CA515396305 | ARSL | c.1737C>T (p.Leu579=) c.1812C>T (p.Leu604=) c.1614C>T (p.Leu538=) c.1176C>T (p.Leu392=) n.1517C>T c.1725C>T (p.Leu575=) c.1290C>T (p.Leu430=) c.1575C>T (p.Leu525=) c.1734C>T (p.Leu578=) c.1602C>T (p.Leu534=) c.1764C>T (p.Leu588=) c.1251C>T (p.Leu417=) | |
| X | g.2934865G>C | CA515396306 | ARSL | c.1737C>G (p.Leu579=) c.1812C>G (p.Leu604=) c.1614C>G (p.Leu538=) c.1176C>G (p.Leu392=) n.1517C>G c.1725C>G (p.Leu575=) c.1290C>G (p.Leu430=) c.1575C>G (p.Leu525=) c.1734C>G (p.Leu578=) c.1602C>G (p.Leu534=) c.1764C>G (p.Leu588=) c.1251C>G (p.Leu417=) | |
| X | g.2934865G>T | CA515396307 | ARSL | c.1737C>A (p.Leu579=) c.1812C>A (p.Leu604=) c.1614C>A (p.Leu538=) c.1176C>A (p.Leu392=) n.1517C>A c.1725C>A (p.Leu575=) c.1290C>A (p.Leu430=) c.1575C>A (p.Leu525=) c.1734C>A (p.Leu578=) c.1602C>A (p.Leu534=) c.1764C>A (p.Leu588=) c.1251C>A (p.Leu417=) | |
| X | g.2934866A= | CA2412580497 | ARSL | c.1736T= (p.Leu579=) c.1811T= (p.Leu604=) c.1613T= (p.Leu538=) c.1175T= (p.Leu392=) n.1516T= c.1724T= (p.Leu575=) c.1289T= (p.Leu430=) c.1574T= (p.Leu525=) c.1733T= (p.Leu578=) c.1601T= (p.Leu534=) c.1763T= (p.Leu588=) c.1250T= (p.Leu417=) | |
| X | g.2934866A>C | CA412275100 | ARSL | c.1736T>G (p.Leu579Arg) c.1811T>G (p.Leu604Arg) c.1613T>G (p.Leu538Arg) c.1175T>G (p.Leu392Arg) n.1516T>G c.1724T>G (p.Leu575Arg) c.1289T>G (p.Leu430Arg) c.1574T>G (p.Leu525Arg) c.1733T>G (p.Leu578Arg) c.1601T>G (p.Leu534Arg) c.1763T>G (p.Leu588Arg) c.1250T>G (p.Leu417Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.2934866A>G | CA412275101 | ARSL | c.1736T>C (p.Leu579Pro) c.1811T>C (p.Leu604Pro) c.1613T>C (p.Leu538Pro) c.1175T>C (p.Leu392Pro) n.1516T>C c.1724T>C (p.Leu575Pro) c.1289T>C (p.Leu430Pro) c.1574T>C (p.Leu525Pro) c.1733T>C (p.Leu578Pro) c.1601T>C (p.Leu534Pro) c.1763T>C (p.Leu588Pro) c.1250T>C (p.Leu417Pro) | gnomAD v4 |
| X | g.2934866A>T | CA412275102 | ARSL | c.1736T>A (p.Leu579His) c.1811T>A (p.Leu604His) c.1613T>A (p.Leu538His) c.1175T>A (p.Leu392His) n.1516T>A c.1724T>A (p.Leu575His) c.1289T>A (p.Leu430His) c.1574T>A (p.Leu525His) c.1733T>A (p.Leu578His) c.1601T>A (p.Leu534His) c.1763T>A (p.Leu588His) c.1250T>A (p.Leu417His) | |
| X | g.2934867G>A | CA412275103 | ARSL | c.1735C>T (p.Leu579Phe) c.1810C>T (p.Leu604Phe) c.1612C>T (p.Leu538Phe) c.1174C>T (p.Leu392Phe) n.1515C>T c.1723C>T (p.Leu575Phe) c.1288C>T (p.Leu430Phe) c.1573C>T (p.Leu525Phe) c.1732C>T (p.Leu578Phe) c.1600C>T (p.Leu534Phe) c.1762C>T (p.Leu588Phe) c.1249C>T (p.Leu417Phe) | |
| X | g.2934867G>C | CA10337969 | ARSL | c.1735C>G (p.Leu579Val) c.1810C>G (p.Leu604Val) c.1612C>G (p.Leu538Val) c.1174C>G (p.Leu392Val) n.1515C>G c.1723C>G (p.Leu575Val) c.1288C>G (p.Leu430Val) c.1573C>G (p.Leu525Val) c.1732C>G (p.Leu578Val) c.1600C>G (p.Leu534Val) c.1762C>G (p.Leu588Val) c.1249C>G (p.Leu417Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.2934867G= | CA2412580498 | ARSL | c.1735C= (p.Leu579=) c.1810C= (p.Leu604=) c.1612C= (p.Leu538=) c.1174C= (p.Leu392=) n.1515C= c.1723C= (p.Leu575=) c.1288C= (p.Leu430=) c.1573C= (p.Leu525=) c.1732C= (p.Leu578=) c.1600C= (p.Leu534=) c.1762C= (p.Leu588=) c.1249C= (p.Leu417=) | |
| X | g.2934867G>T | CA412275104 | ARSL | c.1735C>A (p.Leu579Ile) c.1810C>A (p.Leu604Ile) c.1612C>A (p.Leu538Ile) c.1174C>A (p.Leu392Ile) n.1515C>A c.1723C>A (p.Leu575Ile) c.1288C>A (p.Leu430Ile) c.1573C>A (p.Leu525Ile) c.1732C>A (p.Leu578Ile) c.1600C>A (p.Leu534Ile) c.1762C>A (p.Leu588Ile) c.1249C>A (p.Leu417Ile) | |
| X | g.2934868G>A | CA515396315 | ARSL | c.1734C>T (p.Pro578=) c.1809C>T (p.Pro603=) c.1611C>T (p.Pro537=) c.1173C>T (p.Pro391=) n.1514C>T c.1722C>T (p.Pro574=) c.1287C>T (p.Pro429=) c.1572C>T (p.Pro524=) c.1731C>T (p.Pro577=) c.1599C>T (p.Pro533=) c.1761C>T (p.Pro587=) c.1248C>T (p.Pro416=) | |
| X | g.2934868G>C | CA515396316 | ARSL | c.1734C>G (p.Pro578=) c.1809C>G (p.Pro603=) c.1611C>G (p.Pro537=) c.1173C>G (p.Pro391=) n.1514C>G c.1722C>G (p.Pro574=) c.1287C>G (p.Pro429=) c.1572C>G (p.Pro524=) c.1731C>G (p.Pro577=) c.1599C>G (p.Pro533=) c.1761C>G (p.Pro587=) c.1248C>G (p.Pro416=) | |
| X | g.2934868G>T | CA515396317 | ARSL | c.1734C>A (p.Pro578=) c.1809C>A (p.Pro603=) c.1611C>A (p.Pro537=) c.1173C>A (p.Pro391=) n.1514C>A c.1722C>A (p.Pro574=) c.1287C>A (p.Pro429=) c.1572C>A (p.Pro524=) c.1731C>A (p.Pro577=) c.1599C>A (p.Pro533=) c.1761C>A (p.Pro587=) c.1248C>A (p.Pro416=) | |
| X | g.2934869G>A | CA412275107 | ARSL | c.1733C>T (p.Pro578Leu) c.1808C>T (p.Pro603Leu) c.1610C>T (p.Pro537Leu) c.1172C>T (p.Pro391Leu) n.1513C>T c.1721C>T (p.Pro574Leu) c.1286C>T (p.Pro429Leu) c.1571C>T (p.Pro524Leu) c.1730C>T (p.Pro577Leu) c.1598C>T (p.Pro533Leu) c.1760C>T (p.Pro587Leu) c.1247C>T (p.Pro416Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.2934869G>C | CA412275106 | ARSL | c.1733C>G (p.Pro578Arg) c.1808C>G (p.Pro603Arg) c.1610C>G (p.Pro537Arg) c.1172C>G (p.Pro391Arg) n.1513C>G c.1721C>G (p.Pro574Arg) c.1286C>G (p.Pro429Arg) c.1571C>G (p.Pro524Arg) c.1730C>G (p.Pro577Arg) c.1598C>G (p.Pro533Arg) c.1760C>G (p.Pro587Arg) c.1247C>G (p.Pro416Arg) | |
| X | g.2934869G= | CA2412580499 | ARSL | c.1733C= (p.Pro578=) c.1808C= (p.Pro603=) c.1610C= (p.Pro537=) c.1172C= (p.Pro391=) n.1513C= c.1721C= (p.Pro574=) c.1286C= (p.Pro429=) c.1571C= (p.Pro524=) c.1730C= (p.Pro577=) c.1598C= (p.Pro533=) c.1760C= (p.Pro587=) c.1247C= (p.Pro416=) | |
| X | g.2934869G>T | CA412275105 | ARSL | c.1733C>A (p.Pro578His) c.1808C>A (p.Pro603His) c.1610C>A (p.Pro537His) c.1172C>A (p.Pro391His) n.1513C>A c.1721C>A (p.Pro574His) c.1286C>A (p.Pro429His) c.1571C>A (p.Pro524His) c.1730C>A (p.Pro577His) c.1598C>A (p.Pro533His) c.1760C>A (p.Pro587His) c.1247C>A (p.Pro416His) | |
| X | g.2934870G>A | CA341096 | ARSL | c.1732C>T (p.Pro578Ser) c.1807C>T (p.Pro603Ser) c.1609C>T (p.Pro537Ser) c.1171C>T (p.Pro391Ser) n.1512C>T c.1720C>T (p.Pro574Ser) c.1285C>T (p.Pro429Ser) c.1570C>T (p.Pro524Ser) c.1729C>T (p.Pro577Ser) c.1597C>T (p.Pro533Ser) c.1759C>T (p.Pro587Ser) c.1246C>T (p.Pro416Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.2934870G>C | CA412275109 | ARSL | c.1732C>G (p.Pro578Ala) c.1807C>G (p.Pro603Ala) c.1609C>G (p.Pro537Ala) c.1171C>G (p.Pro391Ala) n.1512C>G c.1720C>G (p.Pro574Ala) c.1285C>G (p.Pro429Ala) c.1570C>G (p.Pro524Ala) c.1729C>G (p.Pro577Ala) c.1597C>G (p.Pro533Ala) c.1759C>G (p.Pro587Ala) c.1246C>G (p.Pro416Ala) | |
| X | g.2934870G= | CA2412580500 | ARSL | c.1732C= (p.Pro578=) c.1807C= (p.Pro603=) c.1609C= (p.Pro537=) c.1171C= (p.Pro391=) n.1512C= c.1720C= (p.Pro574=) c.1285C= (p.Pro429=) c.1570C= (p.Pro524=) c.1729C= (p.Pro577=) c.1597C= (p.Pro533=) c.1759C= (p.Pro587=) c.1246C= (p.Pro416=) | |
| X | g.2934870G>T | CA412275108 | ARSL | c.1732C>A (p.Pro578Thr) c.1807C>A (p.Pro603Thr) c.1609C>A (p.Pro537Thr) c.1171C>A (p.Pro391Thr) n.1512C>A c.1720C>A (p.Pro574Thr) c.1285C>A (p.Pro429Thr) c.1570C>A (p.Pro524Thr) c.1729C>A (p.Pro577Thr) c.1597C>A (p.Pro533Thr) c.1759C>A (p.Pro587Thr) c.1246C>A (p.Pro416Thr) |