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.129569270A>C | CA414616240 | OCRL | c.*1765A>C (n.*1765A>C) c.1590A>C c.1473A>C (p.Lys491Asn) c.1521A>C c.584A>C c.1124A>C c.1002A>C (p.Lys334Asn) c.1476A>C (p.Lys492Asn) c.1329A>C (p.Lys443Asn) | |
| X | g.129569270A>G | CA518545874 | OCRL | c.*1765A>G (n.*1765A>G) c.1590A>G c.1473A>G (p.Lys491=) c.1521A>G c.584A>G c.1124A>G c.1002A>G (p.Lys334=) c.1476A>G (p.Lys492=) c.1329A>G (p.Lys443=) | |
| X | g.129569270A>T | CA414616242 | OCRL | c.*1765A>T (n.*1765A>T) c.1590A>T c.1473A>T (p.Lys491Asn) c.1521A>T c.584A>T c.1124A>T c.1002A>T (p.Lys334Asn) c.1476A>T (p.Lys492Asn) c.1329A>T (p.Lys443Asn) | |
| X | g.129569271T>A | CA414616245 | OCRL | c.*1766T>A (n.*1766T>A) c.1591T>A c.1474T>A (p.Cys492Ser) c.1522T>A c.585T>A c.1125T>A c.1003T>A (p.Cys335Ser) c.1477T>A (p.Cys493Ser) c.1330T>A (p.Cys444Ser) | |
| X | g.129569271T>C | CA414616247 | OCRL | c.*1766T>C (n.*1766T>C) c.1591T>C c.1474T>C (p.Cys492Arg) c.1522T>C c.585T>C c.1125T>C c.1003T>C (p.Cys335Arg) c.1477T>C (p.Cys493Arg) c.1330T>C (p.Cys444Arg) | |
| X | g.129569271T>G | CA414616250 | OCRL | c.*1766T>G (n.*1766T>G) c.1591T>G c.1474T>G (p.Cys492Gly) c.1522T>G c.585T>G c.1125T>G c.1003T>G (p.Cys335Gly) c.1477T>G (p.Cys493Gly) c.1330T>G (p.Cys444Gly) | |
| X | g.129569272G>A | CA414616253 | OCRL | c.*1767G>A (n.*1767G>A) c.1592G>A c.1475G>A (p.Cys492Tyr) c.1523G>A c.586G>A c.1126G>A c.1004G>A (p.Cys335Tyr) c.1478G>A (p.Cys493Tyr) c.1331G>A (p.Cys444Tyr) | |
| X | g.129569272G>C | CA414616255 | OCRL | c.*1767G>C (n.*1767G>C) c.1592G>C c.1475G>C (p.Cys492Ser) c.1523G>C c.586G>C c.1126G>C c.1004G>C (p.Cys335Ser) c.1478G>C (p.Cys493Ser) c.1331G>C (p.Cys444Ser) | |
| X | g.129569272G>T | CA414616257 | OCRL | c.*1767G>T (n.*1767G>T) c.1592G>T c.1475G>T (p.Cys492Phe) c.1523G>T c.586G>T c.1126G>T c.1004G>T (p.Cys335Phe) c.1478G>T (p.Cys493Phe) c.1331G>T (p.Cys444Phe) | |
| X | g.129569273C>A | CA414616260 | OCRL | c.*1768C>A (n.*1768C>A) c.1593C>A c.1476C>A (p.Cys492Ter) c.1524C>A c.587C>A c.1127C>A c.1005C>A (p.Cys335Ter) c.1479C>A (p.Cys493Ter) c.1332C>A (p.Cys444Ter) | |
| X | g.129569273C>G | CA414616261 | OCRL | c.*1768C>G (n.*1768C>G) c.1593C>G c.1476C>G (p.Cys492Trp) c.1524C>G c.587C>G c.1127C>G c.1005C>G (p.Cys335Trp) c.1479C>G (p.Cys493Trp) c.1332C>G (p.Cys444Trp) | |
| X | g.129569273C>T | CA518545875 | OCRL | c.*1768C>T (n.*1768C>T) c.1593C>T c.1476C>T (p.Cys492=) c.1524C>T c.587C>T c.1127C>T c.1005C>T (p.Cys335=) c.1479C>T (p.Cys493=) c.1332C>T (p.Cys444=) | |
| X | g.129569274C>A | CA518545876 | OCRL | c.*1769C>A (n.*1769C>A) c.1594C>A c.1477C>A (p.Arg493=) c.1525C>A c.588C>A c.1128C>A c.1006C>A (p.Arg336=) c.1480C>A (p.Arg494=) c.1333C>A (p.Arg445=) | gnomAD v4 |
| X | g.129569274C= | CA2458101705 | OCRL | c.*1769C= (n.*1769C=) c.1594C= c.1477C= (p.Arg493=) c.1525C= c.588C= c.1128C= c.1006C= (p.Arg336=) c.1480C= (p.Arg494=) c.1333C= (p.Arg445=) | |
| X | g.129569274C>G | CA414616265 | OCRL | c.*1769C>G (n.*1769C>G) c.1594C>G c.1477C>G (p.Arg493Gly) c.1525C>G c.588C>G c.1128C>G c.1006C>G (p.Arg336Gly) c.1480C>G (p.Arg494Gly) c.1333C>G (p.Arg445Gly) | |
| X | g.129569274C>T | CA345320 | OCRL | c.*1769C>T (n.*1769C>T) c.1594C>T c.1477C>T (p.Arg493Trp) c.1525C>T c.588C>T c.1128C>T c.1006C>T (p.Arg336Trp) c.1480C>T (p.Arg494Trp) c.1333C>T (p.Arg445Trp) | ClinVar dbSNP |
| X | g.129569275G>A | CA414616269 | OCRL | c.*1770G>A (n.*1770G>A) c.1595G>A c.1478G>A (p.Arg493Gln) c.1526G>A c.589G>A c.1129G>A c.1007G>A (p.Arg336Gln) c.1481G>A (p.Arg494Gln) c.1334G>A (p.Arg445Gln) | ClinVar gnomAD v4 |
| X | g.129569275G>C | CA414616271 | OCRL | c.*1770G>C (n.*1770G>C) c.1595G>C c.1478G>C (p.Arg493Pro) c.1526G>C c.589G>C c.1129G>C c.1007G>C (p.Arg336Pro) c.1481G>C (p.Arg494Pro) c.1334G>C (p.Arg445Pro) | |
| X | g.129569275G>T | CA414616273 | OCRL | c.*1770G>T (n.*1770G>T) c.1595G>T c.1478G>T (p.Arg493Leu) c.1526G>T c.589G>T c.1129G>T c.1007G>T (p.Arg336Leu) c.1481G>T (p.Arg494Leu) c.1334G>T (p.Arg445Leu) | |
| X | g.129569276G>A | CA10512201 | OCRL | c.*1771G>A (n.*1771G>A) c.1596G>A c.1479G>A (p.Arg493=) c.1527G>A c.590G>A c.1130G>A c.1008G>A (p.Arg336=) c.1482G>A (p.Arg494=) c.1335G>A (p.Arg445=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.129569276G>C | CA518545877 | OCRL | c.*1771G>C (n.*1771G>C) c.1596G>C c.1479G>C (p.Arg493=) c.1527G>C c.590G>C c.1130G>C c.1008G>C (p.Arg336=) c.1482G>C (p.Arg494=) c.1335G>C (p.Arg445=) | |
| X | g.129569276G= | CA2458101706 | OCRL | c.*1771G= (n.*1771G=) c.1596G= c.1479G= (p.Arg493=) c.1527G= c.590G= c.1130G= c.1008G= (p.Arg336=) c.1482G= (p.Arg494=) c.1335G= (p.Arg445=) | |
| X | g.129569276G>T | CA518545878 | OCRL | c.*1771G>T (n.*1771G>T) c.1596G>T c.1479G>T (p.Arg493=) c.1527G>T c.590G>T c.1130G>T c.1008G>T (p.Arg336=) c.1482G>T (p.Arg494=) c.1335G>T (p.Arg445=) | |
| X | g.129569277G>A | CA414616279 | OCRL | c.*1772G>A (n.*1772G>A) c.1597G>A c.1480G>A (p.Val494Ile) c.1528G>A c.591G>A c.1131G>A c.1009G>A (p.Val337Ile) c.1483G>A (p.Val495Ile) c.1336G>A (p.Val446Ile) | |
| X | g.129569277G>C | CA414616277 | OCRL | c.*1772G>C (n.*1772G>C) c.1597G>C c.1480G>C (p.Val494Leu) c.1528G>C c.591G>C c.1131G>C c.1009G>C (p.Val337Leu) c.1483G>C (p.Val495Leu) c.1336G>C (p.Val446Leu) | |
| X | g.129569277G>T | CA414616281 | OCRL | c.*1772G>T (n.*1772G>T) c.1597G>T c.1480G>T (p.Val494Phe) c.1528G>T c.591G>T c.1131G>T c.1009G>T (p.Val337Phe) c.1483G>T (p.Val495Phe) c.1336G>T (p.Val446Phe) | |
| X | g.129569278T>A | CA414616283 | OCRL | c.*1773T>A (n.*1773T>A) c.1598T>A c.1481T>A (p.Val494Asp) c.1529T>A c.592T>A c.1132T>A c.1010T>A (p.Val337Asp) c.1484T>A (p.Val495Asp) c.1337T>A (p.Val446Asp) | |
| X | g.129569278T>C | CA414616285 | OCRL | c.*1773T>C (n.*1773T>C) c.1598T>C c.1481T>C (p.Val494Ala) c.1529T>C c.592T>C c.1132T>C c.1010T>C (p.Val337Ala) c.1484T>C (p.Val495Ala) c.1337T>C (p.Val446Ala) | |
| X | g.129569278T>G | CA414616287 | OCRL | c.*1773T>G (n.*1773T>G) c.1598T>G c.1481T>G (p.Val494Gly) c.1529T>G c.592T>G c.1132T>G c.1010T>G (p.Val337Gly) c.1484T>G (p.Val495Gly) c.1337T>G (p.Val446Gly) | |
| X | g.129569279T>A | CA518545879 | OCRL | c.*1774T>A (n.*1774T>A) c.1599T>A c.1482T>A (p.Val494=) c.1530T>A c.593T>A c.1133T>A c.1011T>A (p.Val337=) c.1485T>A (p.Val495=) c.1338T>A (p.Val446=) | |
| X | g.129569279T>C | CA518545880 | OCRL | c.*1774T>C (n.*1774T>C) c.1599T>C c.1482T>C (p.Val494=) c.1530T>C c.593T>C c.1133T>C c.1011T>C (p.Val337=) c.1485T>C (p.Val495=) c.1338T>C (p.Val446=) | |
| X | g.129569279T>G | CA518545881 | OCRL | c.*1774T>G (n.*1774T>G) c.1599T>G c.1482T>G (p.Val494=) c.1530T>G c.593T>G c.1133T>G c.1011T>G (p.Val337=) c.1485T>G (p.Val495=) c.1338T>G (p.Val446=) | |
| X | g.129569280C>A | CA414616290 | OCRL | c.*1775C>A (n.*1775C>A) c.1600C>A c.1483C>A (p.Pro495Thr) c.1531C>A c.594C>A c.1134C>A c.1012C>A (p.Pro338Thr) c.1486C>A (p.Pro496Thr) c.1339C>A (p.Pro447Thr) | |
| X | g.129569280C>G | CA414616292 | OCRL | c.*1775C>G (n.*1775C>G) c.1600C>G c.1483C>G (p.Pro495Ala) c.1531C>G c.594C>G c.1134C>G c.1012C>G (p.Pro338Ala) c.1486C>G (p.Pro496Ala) c.1339C>G (p.Pro447Ala) | |
| X | g.129569280C>T | CA414616294 | OCRL | c.*1775C>T (n.*1775C>T) c.1600C>T c.1483C>T (p.Pro495Ser) c.1531C>T c.594C>T c.1134C>T c.1012C>T (p.Pro338Ser) c.1486C>T (p.Pro496Ser) c.1339C>T (p.Pro447Ser) | |
| X | g.129569281C>A | CA414616298 | OCRL | c.*1776C>A (n.*1776C>A) c.1601C>A c.1484C>A (p.Pro495Gln) c.1532C>A c.595C>A c.1135C>A c.1013C>A (p.Pro338Gln) c.1487C>A (p.Pro496Gln) c.1340C>A (p.Pro447Gln) | |
| X | g.129569281C>G | CA414616300 | OCRL | c.*1776C>G (n.*1776C>G) c.1601C>G c.1484C>G (p.Pro495Arg) c.1532C>G c.595C>G c.1135C>G c.1013C>G (p.Pro338Arg) c.1487C>G (p.Pro496Arg) c.1340C>G (p.Pro447Arg) | |
| X | g.129569281C>T | CA414616301 | OCRL | c.*1776C>T (n.*1776C>T) c.1601C>T c.1484C>T (p.Pro495Leu) c.1532C>T c.595C>T c.1135C>T c.1013C>T (p.Pro338Leu) c.1487C>T (p.Pro496Leu) c.1340C>T (p.Pro447Leu) | |
| X | g.129569282A>C | CA518545882 | OCRL | c.*1777A>C (n.*1777A>C) c.1602A>C c.1485A>C (p.Pro495=) c.1533A>C c.596A>C c.1136A>C c.1014A>C (p.Pro338=) c.1488A>C (p.Pro496=) c.1341A>C (p.Pro447=) | |
| X | g.129569282A>G | CA518545883 | OCRL | c.*1777A>G (n.*1777A>G) c.1602A>G c.1485A>G (p.Pro495=) c.1533A>G c.596A>G c.1136A>G c.1014A>G (p.Pro338=) c.1488A>G (p.Pro496=) c.1341A>G (p.Pro447=) | |
| X | g.129569282A>T | CA518545884 | OCRL | c.*1777A>T (n.*1777A>T) c.1602A>T c.1485A>T (p.Pro495=) c.1533A>T c.596A>T c.1136A>T c.1014A>T (p.Pro338=) c.1488A>T (p.Pro496=) c.1341A>T (p.Pro447=) | |
| X | g.129569283G>A | CA414616305 | OCRL | c.*1778G>A (n.*1778G>A) c.1603G>A c.1486G>A (p.Ala496Thr) c.1534G>A c.597G>A c.1137G>A c.1015G>A (p.Ala339Thr) c.1489G>A (p.Ala497Thr) c.1342G>A (p.Ala448Thr) | |
| X | g.129569283G>C | CA414616307 | OCRL | c.*1778G>C (n.*1778G>C) c.1603G>C c.1486G>C (p.Ala496Pro) c.1534G>C c.597G>C c.1137G>C c.1015G>C (p.Ala339Pro) c.1489G>C (p.Ala497Pro) c.1342G>C (p.Ala448Pro) | |
| X | g.129569283G>T | CA414616309 | OCRL | c.*1778G>T (n.*1778G>T) c.1603G>T c.1486G>T (p.Ala496Ser) c.1534G>T c.597G>T c.1137G>T c.1015G>T (p.Ala339Ser) c.1489G>T (p.Ala497Ser) c.1342G>T (p.Ala448Ser) | |
| X | g.129569284C>A | CA414616317 | OCRL | c.*1779C>A (n.*1779C>A) c.1604C>A c.1487C>A (p.Ala496Asp) c.1535C>A c.598C>A c.1138C>A c.1016C>A (p.Ala339Asp) c.1490C>A (p.Ala497Asp) c.1343C>A (p.Ala448Asp) | |
| X | g.129569284C>G | CA414616315 | OCRL | c.*1779C>G (n.*1779C>G) c.1604C>G c.1487C>G (p.Ala496Gly) c.1535C>G c.598C>G c.1138C>G c.1016C>G (p.Ala339Gly) c.1490C>G (p.Ala497Gly) c.1343C>G (p.Ala448Gly) | |
| X | g.129569284C>T | CA414616312 | OCRL | c.*1779C>T (n.*1779C>T) c.1604C>T c.1487C>T (p.Ala496Val) c.1535C>T c.598C>T c.1138C>T c.1016C>T (p.Ala339Val) c.1490C>T (p.Ala497Val) c.1343C>T (p.Ala448Val) | |
| X | g.129569285C>A | CA518545887 | OCRL | c.*1780C>A (n.*1780C>A) c.1605C>A c.1488C>A (p.Ala496=) c.1536C>A c.599C>A c.1139C>A c.1017C>A (p.Ala339=) c.1491C>A (p.Ala497=) c.1344C>A (p.Ala448=) | |
| X | g.129569285C>G | CA518545886 | OCRL | c.*1780C>G (n.*1780C>G) c.1605C>G c.1488C>G (p.Ala496=) c.1536C>G c.599C>G c.1139C>G c.1017C>G (p.Ala339=) c.1491C>G (p.Ala497=) c.1344C>G (p.Ala448=) | |
| X | g.129569285C>T | CA518545885 | OCRL | c.*1780C>T (n.*1780C>T) c.1605C>T c.1488C>T (p.Ala496=) c.1536C>T c.599C>T c.1139C>T c.1017C>T (p.Ala339=) c.1491C>T (p.Ala497=) c.1344C>T (p.Ala448=) | |
| X | g.129569286T>A | CA414616320 | OCRL | c.*1781T>A (n.*1781T>A) c.1606T>A c.1489T>A (p.Trp497Arg) c.1537T>A c.600T>A c.1140T>A c.1018T>A (p.Trp340Arg) c.1492T>A (p.Trp498Arg) c.1345T>A (p.Trp449Arg) | |
| X | g.129569286T>C | CA414616322 | OCRL | c.*1781T>C (n.*1781T>C) c.1606T>C c.1489T>C (p.Trp497Arg) c.1537T>C c.600T>C c.1140T>C c.1018T>C (p.Trp340Arg) c.1492T>C (p.Trp498Arg) c.1345T>C (p.Trp449Arg) | |
| X | g.129569286T>G | CA414616324 | OCRL | c.*1781T>G (n.*1781T>G) c.1606T>G c.1489T>G (p.Trp497Gly) c.1537T>G c.600T>G c.1140T>G c.1018T>G (p.Trp340Gly) c.1492T>G (p.Trp498Gly) c.1345T>G (p.Trp449Gly) | |
| X | g.129569287G>A | CA414616326 | OCRL | c.*1782G>A (n.*1782G>A) c.1607G>A c.1490G>A (p.Trp497Ter) c.1538G>A c.601G>A c.1141G>A c.1019G>A (p.Trp340Ter) c.1493G>A (p.Trp498Ter) c.1346G>A (p.Trp449Ter) | |
| X | g.129569287G>C | CA414616329 | OCRL | c.*1782G>C (n.*1782G>C) c.1607G>C c.1490G>C (p.Trp497Ser) c.1538G>C c.601G>C c.1141G>C c.1019G>C (p.Trp340Ser) c.1493G>C (p.Trp498Ser) c.1346G>C (p.Trp449Ser) | |
| X | g.129569287G>T | CA414616331 | OCRL | c.*1782G>T (n.*1782G>T) c.1607G>T c.1490G>T (p.Trp497Leu) c.1538G>T c.601G>T c.1141G>T c.1019G>T (p.Trp340Leu) c.1493G>T (p.Trp498Leu) c.1346G>T (p.Trp449Leu) | |
| X | g.129569288G>A | CA414616334 | OCRL | c.*1783G>A (n.*1783G>A) c.1608G>A c.1491G>A (p.Trp497Ter) c.1539G>A c.602G>A c.1142G>A c.1020G>A (p.Trp340Ter) c.1494G>A (p.Trp498Ter) c.1347G>A (p.Trp449Ter) | |
| X | g.129569288G>C | CA414616336 | OCRL | c.*1783G>C (n.*1783G>C) c.1608G>C c.1491G>C (p.Trp497Cys) c.1539G>C c.602G>C c.1142G>C c.1020G>C (p.Trp340Cys) c.1494G>C (p.Trp498Cys) c.1347G>C (p.Trp449Cys) | COSMIC |
| X | g.129569288G>T | CA414616338 | OCRL | c.*1783G>T (n.*1783G>T) c.1608G>T c.1491G>T (p.Trp497Cys) c.1539G>T c.602G>T c.1142G>T c.1020G>T (p.Trp340Cys) c.1494G>T (p.Trp498Cys) c.1347G>T (p.Trp449Cys) | |
| X | g.129569289T>A | CA414616341 | OCRL | c.*1784T>A (n.*1784T>A) c.1609T>A c.1492T>A (p.Cys498Ser) c.1540T>A c.603T>A c.1143T>A c.1021T>A (p.Cys341Ser) c.1495T>A (p.Cys499Ser) c.1348T>A (p.Cys450Ser) | |
| X | g.129569289T>C | CA414616343 | OCRL | c.*1784T>C (n.*1784T>C) c.1609T>C c.1492T>C (p.Cys498Arg) c.1540T>C c.603T>C c.1143T>C c.1021T>C (p.Cys341Arg) c.1495T>C (p.Cys499Arg) c.1348T>C (p.Cys450Arg) | ClinVar |
| X | g.129569289T>G | CA414616345 | OCRL | c.*1784T>G (n.*1784T>G) c.1609T>G c.1492T>G (p.Cys498Gly) c.1540T>G c.603T>G c.1143T>G c.1021T>G (p.Cys341Gly) c.1495T>G (p.Cys499Gly) c.1348T>G (p.Cys450Gly) | |
| X | g.129569290G>A | CA266155 | OCRL | c.*1785G>A (n.*1785G>A) c.1610G>A c.1493G>A (p.Cys498Tyr) c.1541G>A c.604G>A c.1144G>A c.1022G>A (p.Cys341Tyr) c.1496G>A (p.Cys499Tyr) c.1349G>A (p.Cys450Tyr) | ClinVar dbSNP |
| X | g.129569290G>C | CA414616351 | OCRL | c.*1785G>C (n.*1785G>C) c.1610G>C c.1493G>C (p.Cys498Ser) c.1541G>C c.604G>C c.1144G>C c.1022G>C (p.Cys341Ser) c.1496G>C (p.Cys499Ser) c.1349G>C (p.Cys450Ser) | |
| X | g.129569290G= | CA2458101707 | OCRL | c.*1785G= (n.*1785G=) c.1610G= c.1493G= (p.Cys498=) c.1541G= c.604G= c.1144G= c.1022G= (p.Cys341=) c.1496G= (p.Cys499=) c.1349G= (p.Cys450=) | |
| X | g.129569290G>T | CA414616349 | OCRL | c.*1785G>T (n.*1785G>T) c.1610G>T c.1493G>T (p.Cys498Phe) c.1541G>T c.604G>T c.1144G>T c.1022G>T (p.Cys341Phe) c.1496G>T (p.Cys499Phe) c.1349G>T (p.Cys450Phe) | |
| X | g.129569291T>A | CA414616354 | OCRL | c.*1786T>A (n.*1786T>A) c.1611T>A c.1494T>A (p.Cys498Ter) c.1542T>A c.605T>A c.1145T>A c.1023T>A (p.Cys341Ter) c.1497T>A (p.Cys499Ter) c.1350T>A (p.Cys450Ter) | |
| X | g.129569291T>C | CA518545888 | OCRL | c.*1786T>C (n.*1786T>C) c.1611T>C c.1494T>C (p.Cys498=) c.1542T>C c.605T>C c.1145T>C c.1023T>C (p.Cys341=) c.1497T>C (p.Cys499=) c.1350T>C (p.Cys450=) | |
| X | g.129569291T>G | CA414616356 | OCRL | c.*1786T>G (n.*1786T>G) c.1611T>G c.1494T>G (p.Cys498Trp) c.1542T>G c.605T>G c.1145T>G c.1023T>G (p.Cys341Trp) c.1497T>G (p.Cys499Trp) c.1350T>G (p.Cys450Trp) | |
| X | g.129569292G>A | CA414616358 | OCRL | c.*1787G>A (n.*1787G>A) c.1612G>A c.1495G>A (p.Asp499Asn) c.1543G>A c.606G>A c.1146G>A c.1024G>A (p.Asp342Asn) c.1498G>A (p.Asp500Asn) c.1351G>A (p.Asp451Asn) | |
| X | g.129569292G>C | CA266156 | OCRL | c.*1787G>C (n.*1787G>C) c.1612G>C c.1495G>C (p.Asp499His) c.1543G>C c.606G>C c.1146G>C c.1024G>C (p.Asp342His) c.1498G>C (p.Asp500His) c.1351G>C (p.Asp451His) | ClinVar dbSNP |
| X | g.129569292G= | CA2458101708 | OCRL | c.*1787G= (n.*1787G=) c.1612G= c.1495G= (p.Asp499=) c.1543G= c.606G= c.1146G= c.1024G= (p.Asp342=) c.1498G= (p.Asp500=) c.1351G= (p.Asp451=) | |
| X | g.129569292G>T | CA414616359 | OCRL | c.*1787G>T (n.*1787G>T) c.1612G>T c.1495G>T (p.Asp499Tyr) c.1543G>T c.606G>T c.1146G>T c.1024G>T (p.Asp342Tyr) c.1498G>T (p.Asp500Tyr) c.1351G>T (p.Asp451Tyr) | gnomAD v4 |
| X | g.129569293A>C | CA414616360 | OCRL | c.*1788A>C (n.*1788A>C) c.1613A>C c.1496A>C (p.Asp499Ala) c.1544A>C c.607A>C c.1147A>C c.1025A>C (p.Asp342Ala) c.1499A>C (p.Asp500Ala) c.1352A>C (p.Asp451Ala) | |
| X | g.129569293A>G | CA414616362 | OCRL | c.*1788A>G (n.*1788A>G) c.1613A>G c.1496A>G (p.Asp499Gly) c.1544A>G c.607A>G c.1147A>G c.1025A>G (p.Asp342Gly) c.1499A>G (p.Asp500Gly) c.1352A>G (p.Asp451Gly) | |
| X | g.129569293A>T | CA414616361 | OCRL | c.*1788A>T (n.*1788A>T) c.1613A>T c.1496A>T (p.Asp499Val) c.1544A>T c.607A>T c.1147A>T c.1025A>T (p.Asp342Val) c.1499A>T (p.Asp500Val) c.1352A>T (p.Asp451Val) | |
| X | g.129569294C>A | CA414616363 | OCRL | c.*1789C>A (n.*1789C>A) c.1614C>A c.1497C>A (p.Asp499Glu) c.1545C>A c.608C>A c.1148C>A c.1026C>A (p.Asp342Glu) c.1500C>A (p.Asp500Glu) c.1353C>A (p.Asp451Glu) | |
| X | g.129569294C= | CA2458101709 | OCRL | c.*1789C= (n.*1789C=) c.1614C= c.1497C= (p.Asp499=) c.1545C= c.608C= c.1148C= c.1026C= (p.Asp342=) c.1500C= (p.Asp500=) c.1353C= (p.Asp451=) | |
| X | g.129569294C>G | CA414616364 | OCRL | c.*1789C>G (n.*1789C>G) c.1614C>G c.1497C>G (p.Asp499Glu) c.1545C>G c.608C>G c.1148C>G c.1026C>G (p.Asp342Glu) c.1500C>G (p.Asp500Glu) c.1353C>G (p.Asp451Glu) | |
| X | g.129569294C>T | CA10512202 | OCRL | c.*1789C>T (n.*1789C>T) c.1614C>T c.1497C>T (p.Asp499=) c.1545C>T c.608C>T c.1148C>T c.1026C>T (p.Asp342=) c.1500C>T (p.Asp500=) c.1353C>T (p.Asp451=) | dbSNP ExAC gnomAD v2 |
| X | g.129569295C>A | CA518545889 | OCRL | c.*1790C>A (n.*1790C>A) c.1615C>A c.1498C>A (p.Arg500=) c.1546C>A c.609C>A c.1149C>A c.1027C>A (p.Arg343=) c.1501C>A (p.Arg501=) c.1354C>A (p.Arg452=) | |
| X | g.129569295C= | CA2458101710 | OCRL | c.*1790C= (n.*1790C=) c.1615C= c.1498C= (p.Arg500=) c.1546C= c.609C= c.1149C= c.1027C= (p.Arg343=) c.1501C= (p.Arg501=) c.1354C= (p.Arg452=) | |
| X | g.129569295C>G | CA220572 | OCRL | c.*1790C>G (n.*1790C>G) c.1615C>G c.1498C>G (p.Arg500Gly) c.1546C>G c.609C>G c.1149C>G c.1027C>G (p.Arg343Gly) c.1501C>G (p.Arg501Gly) c.1354C>G (p.Arg452Gly) | ClinVar dbSNP |
| X | g.129569295C>T | CA414616365 | OCRL | c.*1790C>T (n.*1790C>T) c.1615C>T c.1498C>T (p.Arg500Ter) c.1546C>T c.609C>T c.1149C>T c.1027C>T (p.Arg343Ter) c.1501C>T (p.Arg501Ter) c.1354C>T (p.Arg452Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.129569296G>A | CA255583 | OCRL | c.*1791G>A (n.*1791G>A) c.1616G>A c.1499G>A (p.Arg500Gln) c.1547G>A c.610G>A c.1150G>A c.1028G>A (p.Arg343Gln) c.1502G>A (p.Arg501Gln) c.1355G>A (p.Arg452Gln) | ClinVar dbSNP COSMIC |
| X | g.129569296G>C | CA414616366 | OCRL | c.*1791G>C (n.*1791G>C) c.1616G>C c.1499G>C (p.Arg500Pro) c.1547G>C c.610G>C c.1150G>C c.1028G>C (p.Arg343Pro) c.1502G>C (p.Arg501Pro) c.1355G>C (p.Arg452Pro) | |
| X | g.129569296G= | CA2458101711 | OCRL | c.*1791G= (n.*1791G=) c.1616G= c.1499G= (p.Arg500=) c.1547G= c.610G= c.1150G= c.1028G= (p.Arg343=) c.1502G= (p.Arg501=) c.1355G= (p.Arg452=) | |
| X | g.129569296G>T | CA414616367 | OCRL | c.*1791G>T (n.*1791G>T) c.1616G>T c.1499G>T (p.Arg500Leu) c.1547G>T c.610G>T c.1150G>T c.1028G>T (p.Arg343Leu) c.1502G>T (p.Arg501Leu) c.1355G>T (p.Arg452Leu) | |
| X | g.129569297A>C | CA518545890 | OCRL | c.*1792A>C (n.*1792A>C) c.1617A>C c.1500A>C (p.Arg500=) c.1548A>C c.611A>C c.1151A>C c.1029A>C (p.Arg343=) c.1503A>C (p.Arg501=) c.1356A>C (p.Arg452=) | |
| X | g.129569297A>G | CA518545891 | OCRL | c.*1792A>G (n.*1792A>G) c.1617A>G c.1500A>G (p.Arg500=) c.1548A>G c.611A>G c.1151A>G c.1029A>G (p.Arg343=) c.1503A>G (p.Arg501=) c.1356A>G (p.Arg452=) | |
| X | g.129569297A>T | CA518545892 | OCRL | c.*1792A>T (n.*1792A>T) c.1617A>T c.1500A>T (p.Arg500=) c.1548A>T c.611A>T c.1151A>T c.1029A>T (p.Arg343=) c.1503A>T (p.Arg501=) c.1356A>T (p.Arg452=) | |
| X | g.129569298A>C | CA414616368 | OCRL | c.*1793A>C (n.*1793A>C) c.1618A>C c.1501A>C (p.Ile501Leu) c.1549A>C c.612A>C c.1152A>C c.1030A>C (p.Ile344Leu) c.1504A>C (p.Ile502Leu) c.1357A>C (p.Ile453Leu) | |
| X | g.129569298A>G | CA414616369 | OCRL | c.*1793A>G (n.*1793A>G) c.1618A>G c.1501A>G (p.Ile501Val) c.1549A>G c.612A>G c.1152A>G c.1030A>G (p.Ile344Val) c.1504A>G (p.Ile502Val) c.1357A>G (p.Ile453Val) | |
| X | g.129569298A>T | CA414616370 | OCRL | c.*1793A>T (n.*1793A>T) c.1618A>T c.1501A>T (p.Ile501Phe) c.1549A>T c.612A>T c.1152A>T c.1030A>T (p.Ile344Phe) c.1504A>T (p.Ile502Phe) c.1357A>T (p.Ile453Phe) | |
| X | g.129569299T>A | CA414616371 | OCRL | c.*1794T>A (n.*1794T>A) c.1619T>A c.1502T>A (p.Ile501Asn) c.1550T>A c.613T>A c.1153T>A c.1031T>A (p.Ile344Asn) c.1505T>A (p.Ile502Asn) c.1358T>A (p.Ile453Asn) | |
| X | g.129569299T>C | CA414616372 | OCRL | c.*1794T>C (n.*1794T>C) c.1619T>C c.1502T>C (p.Ile501Thr) c.1550T>C c.613T>C c.1153T>C c.1031T>C (p.Ile344Thr) c.1505T>C (p.Ile502Thr) c.1358T>C (p.Ile453Thr) | |
| X | g.129569299T>G | CA414616373 | OCRL | c.*1794T>G (n.*1794T>G) c.1619T>G c.1502T>G (p.Ile501Ser) c.1550T>G c.613T>G c.1153T>G c.1031T>G (p.Ile344Ser) c.1505T>G (p.Ile502Ser) c.1358T>G (p.Ile453Ser) | |
| X | g.129569300T>A | CA518545893 | OCRL | c.*1795T>A (n.*1795T>A) c.1620T>A c.1503T>A (p.Ile501=) c.1551T>A c.614T>A c.1154T>A c.1032T>A (p.Ile344=) c.1506T>A (p.Ile502=) c.1359T>A (p.Ile453=) | |
| X | g.129569300T>C | CA518545894 | OCRL | c.*1795T>C (n.*1795T>C) c.1620T>C c.1503T>C (p.Ile501=) c.1551T>C c.614T>C c.1154T>C c.1032T>C (p.Ile344=) c.1506T>C (p.Ile502=) c.1359T>C (p.Ile453=) | |
| X | g.129569300T>G | CA414616374 | OCRL | c.*1795T>G (n.*1795T>G) c.1620T>G c.1503T>G (p.Ile501Met) c.1551T>G c.614T>G c.1154T>G c.1032T>G (p.Ile344Met) c.1506T>G (p.Ile502Met) c.1359T>G (p.Ile453Met) | |
| X | g.129569301C>A | CA414616375 | OCRL | c.*1796C>A (n.*1796C>A) c.1621C>A c.1504C>A (p.Leu502Ile) c.1552C>A c.615C>A c.1155C>A c.1033C>A (p.Leu345Ile) c.1507C>A (p.Leu503Ile) c.1360C>A (p.Leu454Ile) | COSMIC |
| X | g.129569301C>G | CA414616376 | OCRL | c.*1796C>G (n.*1796C>G) c.1621C>G c.1504C>G (p.Leu502Val) c.1552C>G c.615C>G c.1155C>G c.1033C>G (p.Leu345Val) c.1507C>G (p.Leu503Val) c.1360C>G (p.Leu454Val) | |
| X | g.129569301C>T | CA414616377 | OCRL | c.*1796C>T (n.*1796C>T) c.1621C>T c.1504C>T (p.Leu502Phe) c.1552C>T c.615C>T c.1155C>T c.1033C>T (p.Leu345Phe) c.1507C>T (p.Leu503Phe) c.1360C>T (p.Leu454Phe) | |
| X | g.129569302T>A | CA414616378 | OCRL | c.*1797T>A (n.*1797T>A) c.1622T>A c.1505T>A (p.Leu502His) c.1553T>A c.616T>A c.1156T>A c.1034T>A (p.Leu345His) c.1508T>A (p.Leu503His) c.1361T>A (p.Leu454His) | |
| X | g.129569302T>C | CA275020 | OCRL | c.*1797T>C (n.*1797T>C) c.1622T>C c.1505T>C (p.Leu502Pro) c.1553T>C c.616T>C c.1156T>C c.1034T>C (p.Leu345Pro) c.1508T>C (p.Leu503Pro) c.1361T>C (p.Leu454Pro) | ClinVar dbSNP |
| X | g.129569302T>G | CA414616379 | OCRL | c.*1797T>G (n.*1797T>G) c.1622T>G c.1505T>G (p.Leu502Arg) c.1553T>G c.616T>G c.1156T>G c.1034T>G (p.Leu345Arg) c.1508T>G (p.Leu503Arg) c.1361T>G (p.Leu454Arg) | |
| X | g.129569302T= | CA2458101712 | OCRL | c.*1797T= (n.*1797T=) c.1622T= c.1505T= (p.Leu502=) c.1553T= c.616T= c.1156T= c.1034T= (p.Leu345=) c.1508T= (p.Leu503=) c.1361T= (p.Leu454=) | |
| X | g.129569303T>A | CA518545895 | OCRL | c.*1798T>A (n.*1798T>A) c.1623T>A c.1506T>A (p.Leu502=) c.1554T>A c.617T>A c.1157T>A c.1035T>A (p.Leu345=) c.1509T>A (p.Leu503=) c.1362T>A (p.Leu454=) | |
| X | g.129569303T>C | CA10512203 | OCRL | c.*1798T>C (n.*1798T>C) c.1623T>C c.1506T>C (p.Leu502=) c.1554T>C c.617T>C c.1157T>C c.1035T>C (p.Leu345=) c.1509T>C (p.Leu503=) c.1362T>C (p.Leu454=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129569303T>G | CA518545896 | OCRL | c.*1798T>G (n.*1798T>G) c.1623T>G c.1506T>G (p.Leu502=) c.1554T>G c.617T>G c.1157T>G c.1035T>G (p.Leu345=) c.1509T>G (p.Leu503=) c.1362T>G (p.Leu454=) | |
| X | g.129569303T= | CA2458101713 | OCRL | c.*1798T= (n.*1798T=) c.1623T= c.1506T= (p.Leu502=) c.1554T= c.617T= c.1157T= c.1035T= (p.Leu345=) c.1509T= (p.Leu503=) c.1362T= (p.Leu454=) | |
| X | g.129569304T>A | CA414616380 | OCRL | c.*1799T>A (n.*1799T>A) c.1624T>A c.1507T>A (p.Trp503Arg) c.1555T>A c.618T>A c.1158T>A c.1036T>A (p.Trp346Arg) c.1510T>A (p.Trp504Arg) c.1363T>A (p.Trp455Arg) | |
| X | g.129569304T>C | CA266157 | OCRL | c.*1799T>C (n.*1799T>C) c.1624T>C c.1507T>C (p.Trp503Arg) c.1555T>C c.618T>C c.1158T>C c.1036T>C (p.Trp346Arg) c.1510T>C (p.Trp504Arg) c.1363T>C (p.Trp455Arg) | ClinVar dbSNP |
| X | g.129569304T>G | CA414616381 | OCRL | c.*1799T>G (n.*1799T>G) c.1624T>G c.1507T>G (p.Trp503Gly) c.1555T>G c.618T>G c.1158T>G c.1036T>G (p.Trp346Gly) c.1510T>G (p.Trp504Gly) c.1363T>G (p.Trp455Gly) | |
| X | g.129569304T= | CA2458101714 | OCRL | c.*1799T= (n.*1799T=) c.1624T= c.1507T= (p.Trp503=) c.1555T= c.618T= c.1158T= c.1036T= (p.Trp346=) c.1510T= (p.Trp504=) c.1363T= (p.Trp455=) | |
| X | g.129569305G>A | CA414616382 | OCRL | c.*1800G>A (n.*1800G>A) c.1625G>A c.1508G>A (p.Trp503Ter) c.1556G>A c.619G>A c.1159G>A c.1037G>A (p.Trp346Ter) c.1511G>A (p.Trp504Ter) c.1364G>A (p.Trp455Ter) | |
| X | g.129569305G>C | CA414616383 | OCRL | c.*1800G>C (n.*1800G>C) c.1625G>C c.1508G>C (p.Trp503Ser) c.1556G>C c.619G>C c.1159G>C c.1037G>C (p.Trp346Ser) c.1511G>C (p.Trp504Ser) c.1364G>C (p.Trp455Ser) | |
| X | g.129569305G>T | CA414616384 | OCRL | c.*1800G>T (n.*1800G>T) c.1625G>T c.1508G>T (p.Trp503Leu) c.1556G>T c.619G>T c.1159G>T c.1037G>T (p.Trp346Leu) c.1511G>T (p.Trp504Leu) c.1364G>T (p.Trp455Leu) | |
| X | g.129569306G>A | CA414616385 | OCRL | c.*1801G>A (n.*1801G>A) c.1626G>A c.1509G>A (p.Trp503Ter) c.1557G>A c.620G>A c.1160G>A c.1038G>A (p.Trp346Ter) c.1512G>A (p.Trp504Ter) c.1365G>A (p.Trp455Ter) | |
| X | g.129569306G>C | CA414616387 | OCRL | c.*1801G>C (n.*1801G>C) c.1626G>C c.1509G>C (p.Trp503Cys) c.1557G>C c.620G>C c.1160G>C c.1038G>C (p.Trp346Cys) c.1512G>C (p.Trp504Cys) c.1365G>C (p.Trp455Cys) | |
| X | g.129569306G>T | CA414616386 | OCRL | c.*1801G>T (n.*1801G>T) c.1626G>T c.1509G>T (p.Trp503Cys) c.1557G>T c.620G>T c.1160G>T c.1038G>T (p.Trp346Cys) c.1512G>T (p.Trp504Cys) c.1365G>T (p.Trp455Cys) | |
| X | g.129569307A>C | CA518545897 | OCRL | c.*1802A>C (n.*1802A>C) c.1627A>C c.1510A>C (p.Arg504=) c.1558A>C c.621A>C c.1161A>C c.1039A>C (p.Arg347=) c.1513A>C (p.Arg505=) c.1366A>C (p.Arg456=) | |
| X | g.129569307A>G | CA414616388 | OCRL | c.*1802A>G (n.*1802A>G) c.1627A>G c.1510A>G (p.Arg504Gly) c.1558A>G c.621A>G c.1161A>G c.1039A>G (p.Arg347Gly) c.1513A>G (p.Arg505Gly) c.1366A>G (p.Arg456Gly) | |
| X | g.129569307A>T | CA414616389 | OCRL | c.*1802A>T (n.*1802A>T) c.1627A>T c.1510A>T (p.Arg504Ter) c.1558A>T c.621A>T c.1161A>T c.1039A>T (p.Arg347Ter) c.1513A>T (p.Arg505Ter) c.1366A>T (p.Arg456Ter) | |
| X | g.129569308G>A | CA414616390 | OCRL | c.*1803G>A (n.*1803G>A) c.1628G>A c.1511G>A (p.Arg504Lys) c.1559G>A c.622G>A c.1162G>A c.1040G>A (p.Arg347Lys) c.1514G>A (p.Arg505Lys) c.1367G>A (p.Arg456Lys) | |
| X | g.129569308G>C | CA414616391 | OCRL | c.*1803G>C (n.*1803G>C) c.1628G>C c.1511G>C (p.Arg504Thr) c.1559G>C c.622G>C c.1162G>C c.1040G>C (p.Arg347Thr) c.1514G>C (p.Arg505Thr) c.1367G>C (p.Arg456Thr) | |
| X | g.129569308G>T | CA414616392 | OCRL | c.*1803G>T (n.*1803G>T) c.1628G>T c.1511G>T (p.Arg504Ile) c.1559G>T c.622G>T c.1162G>T c.1040G>T (p.Arg347Ile) c.1514G>T (p.Arg505Ile) c.1367G>T (p.Arg456Ile) | |
| X | g.129569309A>C | CA414616393 | OCRL | c.*1804A>C (n.*1804A>C) c.1629A>C c.1512A>C (p.Arg504Ser) c.1560A>C c.623A>C c.1163A>C c.1041A>C (p.Arg347Ser) c.1515A>C (p.Arg505Ser) c.1368A>C (p.Arg456Ser) | |
| X | g.129569309A>G | CA518545898 | OCRL | c.*1804A>G (n.*1804A>G) c.1629A>G c.1512A>G (p.Arg504=) c.1560A>G c.623A>G c.1163A>G c.1041A>G (p.Arg347=) c.1515A>G (p.Arg505=) c.1368A>G (p.Arg456=) | |
| X | g.129569309A>T | CA414616394 | OCRL | c.*1804A>T (n.*1804A>T) c.1629A>T c.1512A>T (p.Arg504Ser) c.1560A>T c.623A>T c.1163A>T c.1041A>T (p.Arg347Ser) c.1515A>T (p.Arg505Ser) c.1368A>T (p.Arg456Ser) | |
| X | g.129569310G>A | CA414616395 | OCRL | c.*1805G>A (n.*1805G>A) c.1630G>A c.1513G>A (p.Gly505Arg) c.1561G>A c.624G>A c.1164G>A c.1042G>A (p.Gly348Arg) c.1516G>A (p.Gly506Arg) c.1369G>A (p.Gly457Arg) | ClinVar |
| X | g.129569310G>C | CA414616396 | OCRL | c.*1805G>C (n.*1805G>C) c.1630G>C c.1513G>C (p.Gly505Arg) c.1561G>C c.624G>C c.1164G>C c.1042G>C (p.Gly348Arg) c.1516G>C (p.Gly506Arg) c.1369G>C (p.Gly457Arg) | |
| X | g.129569310G>T | CA414616397 | OCRL | c.*1805G>T (n.*1805G>T) c.1630G>T c.1513G>T (p.Gly505Ter) c.1561G>T c.624G>T c.1164G>T c.1042G>T (p.Gly348Ter) c.1516G>T (p.Gly506Ter) c.1369G>T (p.Gly457Ter) | |
| X | g.129569311G>A | CA414616398 | OCRL | c.*1806G>A (n.*1806G>A) c.1631G>A c.1514G>A (p.Gly505Glu) c.1562G>A c.625G>A c.1165G>A c.1043G>A (p.Gly348Glu) c.1517G>A (p.Gly506Glu) c.1370G>A (p.Gly457Glu) | ClinVar dbSNP |
| X | g.129569311G>C | CA414616399 | OCRL | c.*1806G>C (n.*1806G>C) c.1631G>C c.1514G>C (p.Gly505Ala) c.1562G>C c.625G>C c.1165G>C c.1043G>C (p.Gly348Ala) c.1517G>C (p.Gly506Ala) c.1370G>C (p.Gly457Ala) | |
| X | g.129569311G= | CA2458101715 | OCRL | c.*1806G= (n.*1806G=) c.1631G= c.1514G= (p.Gly505=) c.1562G= c.625G= c.1165G= c.1043G= (p.Gly348=) c.1517G= (p.Gly506=) c.1370G= (p.Gly457=) | |
| X | g.129569311G>T | CA414616400 | OCRL | c.*1806G>T (n.*1806G>T) c.1631G>T c.1514G>T (p.Gly505Val) c.1562G>T c.625G>T c.1165G>T c.1043G>T (p.Gly348Val) c.1517G>T (p.Gly506Val) c.1370G>T (p.Gly457Val) | |
| X | g.129569312A>C | CA518545899 | OCRL | c.*1807A>C (n.*1807A>C) c.1632A>C c.1515A>C (p.Gly505=) c.1563A>C c.626A>C c.1166A>C c.1044A>C (p.Gly348=) c.1518A>C (p.Gly506=) c.1371A>C (p.Gly457=) | |
| X | g.129569312A>G | CA518545900 | OCRL | c.*1807A>G (n.*1807A>G) c.1632A>G c.1515A>G (p.Gly505=) c.1563A>G c.626A>G c.1166A>G c.1044A>G (p.Gly348=) c.1518A>G (p.Gly506=) c.1371A>G (p.Gly457=) | |
| X | g.129569312A>T | CA518545901 | OCRL | c.*1807A>T (n.*1807A>T) c.1632A>T c.1515A>T (p.Gly505=) c.1563A>T c.626A>T c.1166A>T c.1044A>T (p.Gly348=) c.1518A>T (p.Gly506=) c.1371A>T (p.Gly457=) | |
| X | g.129569313A= | CA2458101716 | OCRL | c.*1808A= (n.*1808A=) c.1633A= c.1516A= (p.Thr506=) c.1564A= c.627A= c.1167A= c.1045A= (p.Thr349=) c.1519A= (p.Thr507=) c.1372A= (p.Thr458=) | |
| X | g.129569313A>C | CA414616401 | OCRL | c.*1808A>C (n.*1808A>C) c.1633A>C c.1516A>C (p.Thr506Pro) c.1564A>C c.627A>C c.1167A>C c.1045A>C (p.Thr349Pro) c.1519A>C (p.Thr507Pro) c.1372A>C (p.Thr458Pro) | |
| X | g.129569313A>G | CA10512204 | OCRL | c.*1808A>G (n.*1808A>G) c.1633A>G c.1516A>G (p.Thr506Ala) c.1564A>G c.627A>G c.1167A>G c.1045A>G (p.Thr349Ala) c.1519A>G (p.Thr507Ala) c.1372A>G (p.Thr458Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129569313A>T | CA414616402 | OCRL | c.*1808A>T (n.*1808A>T) c.1633A>T c.1516A>T (p.Thr506Ser) c.1564A>T c.627A>T c.1167A>T c.1045A>T (p.Thr349Ser) c.1519A>T (p.Thr507Ser) c.1372A>T (p.Thr458Ser) | |
| X | g.129569314del | CA2695235854 | OCRL | c.*1809del (n.*1809del) c.1634del c.1517del (p.Thr506LysfsTer14) c.1565del c.628del c.1168del c.1046del (p.Thr349LysfsTer14) c.1520del (p.Thr507LysfsTer14) c.1373del (p.Thr458LysfsTer14) | |
| X | g.129569314C>A | CA414616403 | OCRL | c.*1809C>A (n.*1809C>A) c.1634C>A c.1517C>A (p.Thr506Lys) c.1565C>A c.628C>A c.1168C>A c.1046C>A (p.Thr349Lys) c.1520C>A (p.Thr507Lys) c.1373C>A (p.Thr458Lys) | |
| X | g.129569314C>G | CA414616404 | OCRL | c.*1809C>G (n.*1809C>G) c.1634C>G c.1517C>G (p.Thr506Arg) c.1565C>G c.628C>G c.1168C>G c.1046C>G (p.Thr349Arg) c.1520C>G (p.Thr507Arg) c.1373C>G (p.Thr458Arg) | |
| X | g.129569314C>T | CA414616405 | OCRL | c.*1809C>T (n.*1809C>T) c.1634C>T c.1517C>T (p.Thr506Ile) c.1565C>T c.628C>T c.1168C>T c.1046C>T (p.Thr349Ile) c.1520C>T (p.Thr507Ile) c.1373C>T (p.Thr458Ile) | |
| X | g.129569315A>C | CA518545902 | OCRL | c.*1810A>C (n.*1810A>C) c.1635A>C c.1518A>C (p.Thr506=) c.1566A>C c.629A>C c.1169A>C c.1047A>C (p.Thr349=) c.1521A>C (p.Thr507=) c.1374A>C (p.Thr458=) | |
| X | g.129569315A>G | CA518545903 | OCRL | c.*1810A>G (n.*1810A>G) c.1635A>G c.1518A>G (p.Thr506=) c.1566A>G c.629A>G c.1169A>G c.1047A>G (p.Thr349=) c.1521A>G (p.Thr507=) c.1374A>G (p.Thr458=) | ClinVar |
| X | g.129569315A>T | CA518545904 | OCRL | c.*1810A>T (n.*1810A>T) c.1635A>T c.1518A>T (p.Thr506=) c.1566A>T c.629A>T c.1169A>T c.1047A>T (p.Thr349=) c.1521A>T (p.Thr507=) c.1374A>T (p.Thr458=) | |
| X | g.129569317del | CA923726336 | OCRL | c.*1812del (n.*1812del) c.1637del c.1520del (p.Asn507MetfsTer13) c.1568del c.631del c.1171del c.1049del (p.Asn350MetfsTer13) c.1523del (p.Asn508MetfsTer13) c.1376del (p.Asn459MetfsTer13) | |
| X | g.129569316A>C | CA414616406 | OCRL | c.*1811A>C (n.*1811A>C) c.1636A>C c.1519A>C (p.Asn507His) c.1567A>C c.630A>C c.1170A>C c.1048A>C (p.Asn350His) c.1522A>C (p.Asn508His) c.1375A>C (p.Asn459His) | |
| X | g.129569316A>G | CA414616407 | OCRL | c.*1811A>G (n.*1811A>G) c.1636A>G c.1519A>G (p.Asn507Asp) c.1567A>G c.630A>G c.1170A>G c.1048A>G (p.Asn350Asp) c.1522A>G (p.Asn508Asp) c.1375A>G (p.Asn459Asp) | |
| X | g.129569316A>T | CA414616408 | OCRL | c.*1811A>T (n.*1811A>T) c.1636A>T c.1519A>T (p.Asn507Tyr) c.1567A>T c.630A>T c.1170A>T c.1048A>T (p.Asn350Tyr) c.1522A>T (p.Asn508Tyr) c.1375A>T (p.Asn459Tyr) | |
| X | g.129569317A>C | CA414616409 | OCRL | c.*1812A>C (n.*1812A>C) c.1637A>C c.1520A>C (p.Asn507Thr) c.1568A>C c.631A>C c.1171A>C c.1049A>C (p.Asn350Thr) c.1523A>C (p.Asn508Thr) c.1376A>C (p.Asn459Thr) | |
| X | g.129569317A>G | CA414616410 | OCRL | c.*1812A>G (n.*1812A>G) c.1637A>G c.1520A>G (p.Asn507Ser) c.1568A>G c.631A>G c.1171A>G c.1049A>G (p.Asn350Ser) c.1523A>G (p.Asn508Ser) c.1376A>G (p.Asn459Ser) | |
| X | g.129569317A>T | CA414616411 | OCRL | c.*1812A>T (n.*1812A>T) c.1637A>T c.1520A>T (p.Asn507Ile) c.1568A>T c.631A>T c.1171A>T c.1049A>T (p.Asn350Ile) c.1523A>T (p.Asn508Ile) c.1376A>T (p.Asn459Ile) | |
| X | g.129569318T>A | CA414616413 | OCRL | c.*1813T>A (n.*1813T>A) c.1638T>A c.1521T>A (p.Asn507Lys) c.1569T>A c.632T>A c.1172T>A c.1050T>A (p.Asn350Lys) c.1524T>A (p.Asn508Lys) c.1377T>A (p.Asn459Lys) | |
| X | g.129569318T>C | CA10512205 | OCRL | c.*1813T>C (n.*1813T>C) c.1638T>C c.1521T>C (p.Asn507=) c.1569T>C c.632T>C c.1172T>C c.1050T>C (p.Asn350=) c.1524T>C (p.Asn508=) c.1377T>C (p.Asn459=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.129569318T>G | CA414616412 | OCRL | c.*1813T>G (n.*1813T>G) c.1638T>G c.1521T>G (p.Asn507Lys) c.1569T>G c.632T>G c.1172T>G c.1050T>G (p.Asn350Lys) c.1524T>G (p.Asn508Lys) c.1377T>G (p.Asn459Lys) | |
| X | g.129569318T= | CA2458101717 | OCRL | c.*1813T= (n.*1813T=) c.1638T= c.1521T= (p.Asn507=) c.1569T= c.632T= c.1172T= c.1050T= (p.Asn350=) c.1524T= (p.Asn508=) c.1377T= (p.Asn459=) | |
| X | g.129569319G>A | CA414616414 | OCRL | c.*1814G>A (n.*1814G>A) c.1639G>A c.1522G>A (p.Val508Ile) c.1570G>A c.633G>A c.1173G>A c.1051G>A (p.Val351Ile) c.1525G>A (p.Val509Ile) c.1378G>A (p.Val460Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.129569319G>C | CA414616416 | OCRL | c.*1814G>C (n.*1814G>C) c.1639G>C c.1522G>C (p.Val508Leu) c.1570G>C c.633G>C c.1173G>C c.1051G>C (p.Val351Leu) c.1525G>C (p.Val509Leu) c.1378G>C (p.Val460Leu) | |
| X | g.129569319G= | CA2458101718 | OCRL | c.*1814G= (n.*1814G=) c.1639G= c.1522G= (p.Val508=) c.1570G= c.633G= c.1173G= c.1051G= (p.Val351=) c.1525G= (p.Val509=) c.1378G= (p.Val460=) | |
| X | g.129569319G>T | CA414616415 | OCRL | c.*1814G>T (n.*1814G>T) c.1639G>T c.1522G>T (p.Val508Phe) c.1570G>T c.633G>T c.1173G>T c.1051G>T (p.Val351Phe) c.1525G>T (p.Val509Phe) c.1378G>T (p.Val460Phe) | |
| X | g.129569319_129569330delinsAAGCCTGTTAGC | CA2695235855 | OCRL | c.*1814_*1825delinsAAGCCTGTTAGC (n.*1814_*1825delinsAAGCCTGTTAGC) c.1639_1650delinsAAGCCTGTTAGC c.1522_1533delinsAAGCCTGTTAGC (p.Val508_Leu511delinsLysProValSer) c.1570_1581delinsAAGCCTGTTAGC c.633_644delinsAAGCCTGTTAGC c.1173_1184delinsAAGCCTGTTAGC c.1051_1062delinsAAGCCTGTTAGC (p.Val351_Leu354delinsLysProValSer) c.1525_1536delinsAAGCCTGTTAGC (p.Val509_Leu512delinsLysProValSer) c.1378_1389delinsAAGCCTGTTAGC (p.Val460_Leu463delinsLysProValSer) | |
| X | g.129569320T>A | CA266158 | OCRL | c.*1815T>A (n.*1815T>A) c.1640T>A c.1523T>A (p.Val508Asp) c.1571T>A c.634T>A c.1174T>A c.1052T>A (p.Val351Asp) c.1526T>A (p.Val509Asp) c.1379T>A (p.Val460Asp) | ClinVar dbSNP |
| X | g.129569320T>C | CA414616417 | OCRL | c.*1815T>C (n.*1815T>C) c.1640T>C c.1523T>C (p.Val508Ala) c.1571T>C c.634T>C c.1174T>C c.1052T>C (p.Val351Ala) c.1526T>C (p.Val509Ala) c.1379T>C (p.Val460Ala) | |
| X | g.129569320T>G | CA414616418 | OCRL | c.*1815T>G (n.*1815T>G) c.1640T>G c.1523T>G (p.Val508Gly) c.1571T>G c.634T>G c.1174T>G c.1052T>G (p.Val351Gly) c.1526T>G (p.Val509Gly) c.1379T>G (p.Val460Gly) | |
| X | g.129569320T= | CA2458101719 | OCRL | c.*1815T= (n.*1815T=) c.1640T= c.1523T= (p.Val508=) c.1571T= c.634T= c.1174T= c.1052T= (p.Val351=) c.1526T= (p.Val509=) c.1379T= (p.Val460=) | |
| X | g.129569321T>A | CA518545905 | OCRL | c.*1816T>A (n.*1816T>A) c.1641T>A c.1524T>A (p.Val508=) c.1572T>A c.635T>A c.1175T>A c.1053T>A (p.Val351=) c.1527T>A (p.Val509=) c.1380T>A (p.Val460=) | |
| X | g.129569321T>C | CA518545906 | OCRL | c.*1816T>C (n.*1816T>C) c.1641T>C c.1524T>C (p.Val508=) c.1572T>C c.635T>C c.1175T>C c.1053T>C (p.Val351=) c.1527T>C (p.Val509=) c.1380T>C (p.Val460=) | |
| X | g.129569321T>G | CA518545907 | OCRL | c.*1816T>G (n.*1816T>G) c.1641T>G c.1524T>G (p.Val508=) c.1572T>G c.635T>G c.1175T>G c.1053T>G (p.Val351=) c.1527T>G (p.Val509=) c.1380T>G (p.Val460=) | |
| X | g.129569322A>C | CA414616419 | OCRL | c.*1817A>C (n.*1817A>C) c.1642A>C c.1525A>C (p.Asn509His) c.1573A>C c.636A>C c.1176A>C c.1054A>C (p.Asn352His) c.1528A>C (p.Asn510His) c.1381A>C (p.Asn461His) | |
| X | g.129569322A>G | CA414616420 | OCRL | c.*1817A>G (n.*1817A>G) c.1642A>G c.1525A>G (p.Asn509Asp) c.1573A>G c.636A>G c.1176A>G c.1054A>G (p.Asn352Asp) c.1528A>G (p.Asn510Asp) c.1381A>G (p.Asn461Asp) | |
| X | g.129569322A>T | CA414616421 | OCRL | c.*1817A>T (n.*1817A>T) c.1642A>T c.1525A>T (p.Asn509Tyr) c.1573A>T c.636A>T c.1176A>T c.1054A>T (p.Asn352Tyr) c.1528A>T (p.Asn510Tyr) c.1381A>T (p.Asn461Tyr) | |
| X | g.129569323A= | CA2458101720 | OCRL | c.*1818A= (n.*1818A=) c.1643A= c.1526A= (p.Asn509=) c.1574A= c.637A= c.1177A= c.1055A= (p.Asn352=) c.1529A= (p.Asn510=) c.1382A= (p.Asn461=) | |
| X | g.129569323A>C | CA10512206 | OCRL | c.*1818A>C (n.*1818A>C) c.1643A>C c.1526A>C (p.Asn509Thr) c.1574A>C c.637A>C c.1177A>C c.1055A>C (p.Asn352Thr) c.1529A>C (p.Asn510Thr) c.1382A>C (p.Asn461Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.129569323A>G | CA414616422 | OCRL | c.*1818A>G (n.*1818A>G) c.1643A>G c.1526A>G (p.Asn509Ser) c.1574A>G c.637A>G c.1177A>G c.1055A>G (p.Asn352Ser) c.1529A>G (p.Asn510Ser) c.1382A>G (p.Asn461Ser) | gnomAD v4 |
| X | g.129569323A>T | CA414616423 | OCRL | c.*1818A>T (n.*1818A>T) c.1643A>T c.1526A>T (p.Asn509Ile) c.1574A>T c.637A>T c.1177A>T c.1055A>T (p.Asn352Ile) c.1529A>T (p.Asn510Ile) c.1382A>T (p.Asn461Ile) | |
| X | g.129569324T>A | CA414616424 | OCRL | c.*1819T>A (n.*1819T>A) c.1644T>A c.1527T>A (p.Asn509Lys) c.1575T>A c.638T>A c.1178T>A c.1056T>A (p.Asn352Lys) c.1530T>A (p.Asn510Lys) c.1383T>A (p.Asn461Lys) | |
| X | g.129569324T>C | CA518545908 | OCRL | c.*1819T>C (n.*1819T>C) c.1644T>C c.1527T>C (p.Asn509=) c.1575T>C c.638T>C c.1178T>C c.1056T>C (p.Asn352=) c.1530T>C (p.Asn510=) c.1383T>C (p.Asn461=) | |
| X | g.129569324T>G | CA414616425 | OCRL | c.*1819T>G (n.*1819T>G) c.1644T>G c.1527T>G (p.Asn509Lys) c.1575T>G c.638T>G c.1178T>G c.1056T>G (p.Asn352Lys) c.1530T>G (p.Asn510Lys) c.1383T>G (p.Asn461Lys) | |
| X | g.129569325C>A | CA414616428 | OCRL | c.*1820C>A (n.*1820C>A) c.1645C>A c.1528C>A (p.Gln510Lys) c.1576C>A c.639C>A c.1179C>A c.1057C>A (p.Gln353Lys) c.1531C>A (p.Gln511Lys) c.1384C>A (p.Gln462Lys) | |
| X | g.129569325C>G | CA414616427 | OCRL | c.*1820C>G (n.*1820C>G) c.1645C>G c.1528C>G (p.Gln510Glu) c.1576C>G c.639C>G c.1179C>G c.1057C>G (p.Gln353Glu) c.1531C>G (p.Gln511Glu) c.1384C>G (p.Gln462Glu) | |
| X | g.129569325C>T | CA414616426 | OCRL | c.*1820C>T (n.*1820C>T) c.1645C>T c.1528C>T (p.Gln510Ter) c.1576C>T c.639C>T c.1179C>T c.1057C>T (p.Gln353Ter) c.1531C>T (p.Gln511Ter) c.1384C>T (p.Gln462Ter) | |
| X | g.129569326A>C | CA414616429 | OCRL | c.*1821A>C (n.*1821A>C) c.1646A>C c.1529A>C (p.Gln510Pro) c.1577A>C c.640A>C c.1180A>C c.1058A>C (p.Gln353Pro) c.1532A>C (p.Gln511Pro) c.1385A>C (p.Gln462Pro) | |
| X | g.129569326A>G | CA414616430 | OCRL | c.*1821A>G (n.*1821A>G) c.1646A>G c.1529A>G (p.Gln510Arg) c.1577A>G c.640A>G c.1180A>G c.1058A>G (p.Gln353Arg) c.1532A>G (p.Gln511Arg) c.1385A>G (p.Gln462Arg) | |
| X | g.129569326A>T | CA414616431 | OCRL | c.*1821A>T (n.*1821A>T) c.1646A>T c.1529A>T (p.Gln510Leu) c.1577A>T c.640A>T c.1180A>T c.1058A>T (p.Gln353Leu) c.1532A>T (p.Gln511Leu) c.1385A>T (p.Gln462Leu) | |
| X | g.129569327G>A | CA518545909 | OCRL | c.*1822G>A (n.*1822G>A) c.1647G>A c.1530G>A (p.Gln510=) c.1578G>A c.641G>A c.1181G>A c.1059G>A (p.Gln353=) c.1533G>A (p.Gln511=) c.1386G>A (p.Gln462=) | |
| X | g.129569327G>C | CA414616432 | OCRL | c.*1822G>C (n.*1822G>C) c.1647G>C c.1530G>C (p.Gln510His) c.1578G>C c.641G>C c.1181G>C c.1059G>C (p.Gln353His) c.1533G>C (p.Gln511His) c.1386G>C (p.Gln462His) | |
| X | g.129569327G>T | CA414616433 | OCRL | c.*1822G>T (n.*1822G>T) c.1647G>T c.1530G>T (p.Gln510His) c.1578G>T c.641G>T c.1181G>T c.1059G>T (p.Gln353His) c.1533G>T (p.Gln511His) c.1386G>T (p.Gln462His) | |
| X | g.129569328C>A | CA414616434 | OCRL | c.*1823C>A (n.*1823C>A) c.1648C>A c.1531C>A (p.Leu511Ile) c.1579C>A c.642C>A c.1182C>A c.1060C>A (p.Leu354Ile) c.1534C>A (p.Leu512Ile) c.1387C>A (p.Leu463Ile) | |
| X | g.129569328C>G | CA414616435 | OCRL | c.*1823C>G (n.*1823C>G) c.1648C>G c.1531C>G (p.Leu511Val) c.1579C>G c.642C>G c.1182C>G c.1060C>G (p.Leu354Val) c.1534C>G (p.Leu512Val) c.1387C>G (p.Leu463Val) | |
| X | g.129569328C>T | CA414616436 | OCRL | c.*1823C>T (n.*1823C>T) c.1648C>T c.1531C>T (p.Leu511Phe) c.1579C>T c.642C>T c.1182C>T c.1060C>T (p.Leu354Phe) c.1534C>T (p.Leu512Phe) c.1387C>T (p.Leu463Phe) | gnomAD v4 |
| X | g.129569329T>A | CA414616437 | OCRL | c.*1824T>A (n.*1824T>A) c.1649T>A c.1532T>A (p.Leu511His) c.1580T>A c.643T>A c.1183T>A c.1061T>A (p.Leu354His) c.1535T>A (p.Leu512His) c.1388T>A (p.Leu463His) | |
| X | g.129569329T>C | CA414616438 | OCRL | c.*1824T>C (n.*1824T>C) c.1649T>C c.1532T>C (p.Leu511Pro) c.1580T>C c.643T>C c.1183T>C c.1061T>C (p.Leu354Pro) c.1535T>C (p.Leu512Pro) c.1388T>C (p.Leu463Pro) | |
| X | g.129569329T>G | CA414616439 | OCRL | c.*1824T>G (n.*1824T>G) c.1649T>G c.1532T>G (p.Leu511Arg) c.1580T>G c.643T>G c.1183T>G c.1061T>G (p.Leu354Arg) c.1535T>G (p.Leu512Arg) c.1388T>G (p.Leu463Arg) | |
| X | g.129569330T>A | CA518545910 | OCRL | c.*1825T>A (n.*1825T>A) c.1650T>A c.1533T>A (p.Leu511=) c.1581T>A c.644T>A c.1184T>A c.1062T>A (p.Leu354=) c.1536T>A (p.Leu512=) c.1389T>A (p.Leu463=) | |
| X | g.129569330T>C | CA518545911 | OCRL | c.*1825T>C (n.*1825T>C) c.1650T>C c.1533T>C (p.Leu511=) c.1581T>C c.644T>C c.1184T>C c.1062T>C (p.Leu354=) c.1536T>C (p.Leu512=) c.1389T>C (p.Leu463=) | |
| X | g.129569330T>G | CA518545912 | OCRL | c.*1825T>G (n.*1825T>G) c.1650T>G c.1533T>G (p.Leu511=) c.1581T>G c.644T>G c.1184T>G c.1062T>G (p.Leu354=) c.1536T>G (p.Leu512=) c.1389T>G (p.Leu463=) | |
| X | g.129569331A>C | CA414616442 | OCRL | c.*1826A>C (n.*1826A>C) c.1651A>C c.1534A>C (p.Asn512His) c.1582A>C c.645A>C c.1185A>C c.1063A>C (p.Asn355His) c.1537A>C (p.Asn513His) c.1390A>C (p.Asn464His) | |
| X | g.129569331A>G | CA414616441 | OCRL | c.*1826A>G (n.*1826A>G) c.1651A>G c.1534A>G (p.Asn512Asp) c.1582A>G c.645A>G c.1185A>G c.1063A>G (p.Asn355Asp) c.1537A>G (p.Asn513Asp) c.1390A>G (p.Asn464Asp) | |
| X | g.129569331A>T | CA414616440 | OCRL | c.*1826A>T (n.*1826A>T) c.1651A>T c.1534A>T (p.Asn512Tyr) c.1582A>T c.645A>T c.1185A>T c.1063A>T (p.Asn355Tyr) c.1537A>T (p.Asn513Tyr) c.1390A>T (p.Asn464Tyr) | |
| X | g.129569332A>C | CA414616443 | OCRL | c.*1827A>C (n.*1827A>C) c.1652A>C c.1535A>C (p.Asn512Thr) c.1583A>C c.646A>C c.1186A>C c.1064A>C (p.Asn355Thr) c.1538A>C (p.Asn513Thr) c.1391A>C (p.Asn464Thr) | |
| X | g.129569332A>G | CA414616444 | OCRL | c.*1827A>G (n.*1827A>G) c.1652A>G c.1535A>G (p.Asn512Ser) c.1583A>G c.646A>G c.1186A>G c.1064A>G (p.Asn355Ser) c.1538A>G (p.Asn513Ser) c.1391A>G (p.Asn464Ser) | |
| X | g.129569332A>T | CA414616445 | OCRL | c.*1827A>T (n.*1827A>T) c.1652A>T c.1535A>T (p.Asn512Ile) c.1583A>T c.646A>T c.1186A>T c.1064A>T (p.Asn355Ile) c.1538A>T (p.Asn513Ile) c.1391A>T (p.Asn464Ile) | |
| X | g.129569333T>A | CA414616446 | OCRL | c.*1828T>A (n.*1828T>A) c.1653T>A c.1536T>A (p.Asn512Lys) c.1584T>A c.647T>A c.1187T>A c.1065T>A (p.Asn355Lys) c.1539T>A (p.Asn513Lys) c.1392T>A (p.Asn464Lys) | |
| X | g.129569333T>C | CA518545913 | OCRL | c.*1828T>C (n.*1828T>C) c.1653T>C c.1536T>C (p.Asn512=) c.1584T>C c.647T>C c.1187T>C c.1065T>C (p.Asn355=) c.1539T>C (p.Asn513=) c.1392T>C (p.Asn464=) | |
| X | g.129569333T>G | CA10512207 | OCRL | c.*1828T>G (n.*1828T>G) c.1653T>G c.1536T>G (p.Asn512Lys) c.1584T>G c.647T>G c.1187T>G c.1065T>G (p.Asn355Lys) c.1539T>G (p.Asn513Lys) c.1392T>G (p.Asn464Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.129569333T= | CA2458101721 | OCRL | c.*1828T= (n.*1828T=) c.1653T= c.1536T= (p.Asn512=) c.1584T= c.647T= c.1187T= c.1065T= (p.Asn355=) c.1539T= (p.Asn513=) c.1392T= (p.Asn464=) | |
| X | g.129569334T>A | CA414616447 | OCRL | c.*1829T>A (n.*1829T>A) c.1654T>A c.1537T>A (p.Tyr513Asn) c.1585T>A c.648T>A c.1188T>A c.1066T>A (p.Tyr356Asn) c.1540T>A (p.Tyr514Asn) c.1393T>A (p.Tyr465Asn) | |
| X | g.129569334T>C | CA414616448 | OCRL | c.*1829T>C (n.*1829T>C) c.1654T>C c.1537T>C (p.Tyr513His) c.1585T>C c.648T>C c.1188T>C c.1066T>C (p.Tyr356His) c.1540T>C (p.Tyr514His) c.1393T>C (p.Tyr465His) | |
| X | g.129569334T>G | CA414616449 | OCRL | c.*1829T>G (n.*1829T>G) c.1654T>G c.1537T>G (p.Tyr513Asp) c.1585T>G c.648T>G c.1188T>G c.1066T>G (p.Tyr356Asp) c.1540T>G (p.Tyr514Asp) c.1393T>G (p.Tyr465Asp) | |
| X | g.129569336_129575185del | CA923726337 | OCRL | c.*1831_*1940del c.1656_1765del c.1539_1648del c.1587_1696del c.650_759del c.1190_1299del c.1068_1177del c.1542_1651del c.1395_1504del | |
| X | g.129569335A= | CA2458101722 | OCRL | c.*1830A= (n.*1830A=) c.1655A= c.1538A= (p.Tyr513=) c.1586A= c.649A= c.1189A= c.1067A= (p.Tyr356=) c.1541A= (p.Tyr514=) c.1394A= (p.Tyr465=) | |
| X | g.129569335A>C | CA414616450 | OCRL | c.*1830A>C (n.*1830A>C) c.1655A>C c.1538A>C (p.Tyr513Ser) c.1586A>C c.649A>C c.1189A>C c.1067A>C (p.Tyr356Ser) c.1541A>C (p.Tyr514Ser) c.1394A>C (p.Tyr465Ser) | |
| X | g.129569335A>G | CA266159 | OCRL | c.*1830A>G (n.*1830A>G) c.1655A>G c.1538A>G (p.Tyr513Cys) c.1586A>G c.649A>G c.1189A>G c.1067A>G (p.Tyr356Cys) c.1541A>G (p.Tyr514Cys) c.1394A>G (p.Tyr465Cys) | ClinVar dbSNP |
| X | g.129569335A>T | CA414616451 | OCRL | c.*1830A>T (n.*1830A>T) c.1655A>T c.1538A>T (p.Tyr513Phe) c.1586A>T c.649A>T c.1189A>T c.1067A>T (p.Tyr356Phe) c.1541A>T (p.Tyr514Phe) c.1394A>T (p.Tyr465Phe) | |
| X | g.129569336T>A | CA414616452 | OCRL | c.*1831T>A (n.*1831T>A) c.1656T>A c.1539T>A (p.Tyr513Ter) c.1587T>A c.650T>A c.1190T>A c.1068T>A (p.Tyr356Ter) c.1542T>A (p.Tyr514Ter) c.1395T>A (p.Tyr465Ter) | |
| X | g.129569336T>C | CA518545914 | OCRL | c.*1831T>C (n.*1831T>C) c.1656T>C c.1539T>C (p.Tyr513=) c.1587T>C c.650T>C c.1190T>C c.1068T>C (p.Tyr356=) c.1542T>C (p.Tyr514=) c.1395T>C (p.Tyr465=) | |
| X | g.129569336T>G | CA414616453 | OCRL | c.*1831T>G (n.*1831T>G) c.1656T>G c.1539T>G (p.Tyr513Ter) c.1587T>G c.650T>G c.1190T>G c.1068T>G (p.Tyr356Ter) c.1542T>G (p.Tyr514Ter) c.1395T>G (p.Tyr465Ter) | |
| X | g.129569337C>A | CA10512209 | OCRL | c.*1832C>A (n.*1832C>A) c.1657C>A c.1540C>A (p.Arg514=) c.1588C>A c.651C>A c.1191C>A c.1069C>A (p.Arg357=) c.1543C>A (p.Arg515=) c.1396C>A (p.Arg466=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.129569337C= | CA2458101723 | OCRL | c.*1832C= (n.*1832C=) c.1657C= c.1540C= (p.Arg514=) c.1588C= c.651C= c.1191C= c.1069C= (p.Arg357=) c.1543C= (p.Arg515=) c.1396C= (p.Arg466=) | |
| X | g.129569337C>G | CA414616454 | OCRL | c.*1832C>G (n.*1832C>G) c.1657C>G c.1540C>G (p.Arg514Gly) c.1588C>G c.651C>G c.1191C>G c.1069C>G (p.Arg357Gly) c.1543C>G (p.Arg515Gly) c.1396C>G (p.Arg466Gly) | |
| X | g.129569337C>T | CA10512208 | OCRL | c.*1832C>T (n.*1832C>T) c.1657C>T c.1540C>T (p.Arg514Trp) c.1588C>T c.651C>T c.1191C>T c.1069C>T (p.Arg357Trp) c.1543C>T (p.Arg515Trp) c.1396C>T (p.Arg466Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.129569338G>A | CA414616455 | OCRL | c.*1833G>A (n.*1833G>A) c.1658G>A c.1541G>A (p.Arg514Gln) c.1589G>A c.652G>A c.1192G>A c.1070G>A (p.Arg357Gln) c.1544G>A (p.Arg515Gln) c.1397G>A (p.Arg466Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.129569338G>C | CA414616456 | OCRL | c.*1833G>C (n.*1833G>C) c.1658G>C c.1541G>C (p.Arg514Pro) c.1589G>C c.652G>C c.1192G>C c.1070G>C (p.Arg357Pro) c.1544G>C (p.Arg515Pro) c.1397G>C (p.Arg466Pro) | |
| X | g.129569338G= | CA2458101724 | OCRL | c.*1833G= (n.*1833G=) c.1658G= c.1541G= (p.Arg514=) c.1589G= c.652G= c.1192G= c.1070G= (p.Arg357=) c.1544G= (p.Arg515=) c.1397G= (p.Arg466=) | |
| X | g.129569338G>T | CA335706856 | OCRL | c.*1833G>T (n.*1833G>T) c.1658G>T c.1541G>T (p.Arg514Leu) c.1589G>T c.652G>T c.1192G>T c.1070G>T (p.Arg357Leu) c.1544G>T (p.Arg515Leu) c.1397G>T (p.Arg466Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.129569339G>A | CA518545915 | OCRL | c.*1834G>A (n.*1834G>A) c.1659G>A c.1542G>A (p.Arg514=) c.1590G>A c.653G>A c.1193G>A c.1071G>A (p.Arg357=) c.1545G>A (p.Arg515=) c.1398G>A (p.Arg466=) | |
| X | g.129569339G>C | CA518545917 | OCRL | c.*1834G>C (n.*1834G>C) c.1659G>C c.1542G>C (p.Arg514=) c.1590G>C c.653G>C c.1193G>C c.1071G>C (p.Arg357=) c.1545G>C (p.Arg515=) c.1398G>C (p.Arg466=) | dbSNP |
| X | g.129569339G= | CA2458101725 | OCRL | c.*1834G= (n.*1834G=) c.1659G= c.1542G= (p.Arg514=) c.1590G= c.653G= c.1193G= c.1071G= (p.Arg357=) c.1545G= (p.Arg515=) c.1398G= (p.Arg466=) | |
| X | g.129569339G>T | CA518545916 | OCRL | c.*1834G>T (n.*1834G>T) c.1659G>T c.1542G>T (p.Arg514=) c.1590G>T c.653G>T c.1193G>T c.1071G>T (p.Arg357=) c.1545G>T (p.Arg515=) c.1398G>T (p.Arg466=) | |
| X | g.129569340A>C | CA414616457 | OCRL | c.*1835A>C (n.*1835A>C) c.1660A>C c.1543A>C (p.Ser515Arg) c.1591A>C c.654A>C c.1194A>C c.1072A>C (p.Ser358Arg) c.1546A>C (p.Ser516Arg) c.1399A>C (p.Ser467Arg) | |
| X | g.129569340A>G | CA414616458 | OCRL | c.*1835A>G (n.*1835A>G) c.1660A>G c.1543A>G (p.Ser515Gly) c.1591A>G c.654A>G c.1194A>G c.1072A>G (p.Ser358Gly) c.1546A>G (p.Ser516Gly) c.1399A>G (p.Ser467Gly) | |
| X | g.129569340A>T | CA414616459 | OCRL | c.*1835A>T (n.*1835A>T) c.1660A>T c.1543A>T (p.Ser515Cys) c.1591A>T c.654A>T c.1194A>T c.1072A>T (p.Ser358Cys) c.1546A>T (p.Ser516Cys) c.1399A>T (p.Ser467Cys) | |
| X | g.129569341G>A | CA414616460 | OCRL | c.*1836G>A (n.*1836G>A) c.1661G>A c.1544G>A (p.Ser515Asn) c.1592G>A c.655G>A c.1195G>A c.1073G>A (p.Ser358Asn) c.1547G>A (p.Ser516Asn) c.1400G>A (p.Ser467Asn) | |
| X | g.129569341G>C | CA414616461 | OCRL | c.*1836G>C (n.*1836G>C) c.1661G>C c.1544G>C (p.Ser515Thr) c.1592G>C c.655G>C c.1195G>C c.1073G>C (p.Ser358Thr) c.1547G>C (p.Ser516Thr) c.1400G>C (p.Ser467Thr) | |
| X | g.129569341G>T | CA414616462 | OCRL | c.*1836G>T (n.*1836G>T) c.1661G>T c.1544G>T (p.Ser515Ile) c.1592G>T c.655G>T c.1195G>T c.1073G>T (p.Ser358Ile) c.1547G>T (p.Ser516Ile) c.1400G>T (p.Ser467Ile) | |
| X | g.129569342T>A | CA414616463 | OCRL | c.*1837T>A (n.*1837T>A) c.1662T>A c.1545T>A (p.Ser515Arg) c.1593T>A c.656T>A c.1196T>A c.1074T>A (p.Ser358Arg) c.1548T>A (p.Ser516Arg) c.1401T>A (p.Ser467Arg) | |
| X | g.129569342T>C | CA518545918 | OCRL | c.*1837T>C (n.*1837T>C) c.1662T>C c.1545T>C (p.Ser515=) c.1593T>C c.656T>C c.1196T>C c.1074T>C (p.Ser358=) c.1548T>C (p.Ser516=) c.1401T>C (p.Ser467=) | gnomAD v4 |
| X | g.129569342T>G | CA414616464 | OCRL | c.*1837T>G (n.*1837T>G) c.1662T>G c.1545T>G (p.Ser515Arg) c.1593T>G c.656T>G c.1196T>G c.1074T>G (p.Ser358Arg) c.1548T>G (p.Ser516Arg) c.1401T>G (p.Ser467Arg) | |
| X | g.129569343C>A | CA414616466 | OCRL | c.*1838C>A (n.*1838C>A) c.1663C>A c.1546C>A (p.His516Asn) c.1594C>A c.657C>A c.1197C>A c.1075C>A (p.His359Asn) c.1549C>A (p.His517Asn) c.1402C>A (p.His468Asn) | |
| X | g.129569343C>G | CA414616467 | OCRL | c.*1838C>G (n.*1838C>G) c.1663C>G c.1546C>G (p.His516Asp) c.1594C>G c.657C>G c.1197C>G c.1075C>G (p.His359Asp) c.1549C>G (p.His517Asp) c.1402C>G (p.His468Asp) | |
| X | g.129569343C>T | CA414616465 | OCRL | c.*1838C>T (n.*1838C>T) c.1663C>T c.1546C>T (p.His516Tyr) c.1594C>T c.657C>T c.1197C>T c.1075C>T (p.His359Tyr) c.1549C>T (p.His517Tyr) c.1402C>T (p.His468Tyr) | gnomAD v4 |
| X | g.129569344A>C | CA414616468 | OCRL | c.*1839A>C (n.*1839A>C) c.1664A>C c.1547A>C (p.His516Pro) c.1595A>C c.658A>C c.1198A>C c.1076A>C (p.His359Pro) c.1550A>C (p.His517Pro) c.1403A>C (p.His468Pro) | |
| X | g.129569344A>G | CA414616469 | OCRL | c.*1839A>G (n.*1839A>G) c.1664A>G c.1547A>G (p.His516Arg) c.1595A>G c.658A>G c.1198A>G c.1076A>G (p.His359Arg) c.1550A>G (p.His517Arg) c.1403A>G (p.His468Arg) | |
| X | g.129569344A>T | CA414616470 | OCRL | c.*1839A>T (n.*1839A>T) c.1664A>T c.1547A>T (p.His516Leu) c.1595A>T c.658A>T c.1198A>T c.1076A>T (p.His359Leu) c.1550A>T (p.His517Leu) c.1403A>T (p.His468Leu) | |
| X | g.129569345C>A | CA414616471 | OCRL | c.*1840C>A (n.*1840C>A) c.1665C>A c.1548C>A (p.His516Gln) c.1596C>A c.659C>A c.1199C>A c.1077C>A (p.His359Gln) c.1551C>A (p.His517Gln) c.1404C>A (p.His468Gln) | gnomAD v4 |
| X | g.129569345C>G | CA414616472 | OCRL | c.*1840C>G (n.*1840C>G) c.1665C>G c.1548C>G (p.His516Gln) c.1596C>G c.659C>G c.1199C>G c.1077C>G (p.His359Gln) c.1551C>G (p.His517Gln) c.1404C>G (p.His468Gln) | |
| X | g.129569345C>T | CA518545919 | OCRL | c.*1840C>T (n.*1840C>T) c.1665C>T c.1548C>T (p.His516=) c.1596C>T c.659C>T c.1199C>T c.1077C>T (p.His359=) c.1551C>T (p.His517=) c.1404C>T (p.His468=) | |
| X | g.129569346A>C | CA414616475 | OCRL | c.*1841A>C (n.*1841A>C) c.1666A>C c.1549A>C (p.Met517Leu) c.1597A>C c.660A>C c.1200A>C c.1078A>C (p.Met360Leu) c.1552A>C (p.Met518Leu) c.1405A>C (p.Met469Leu) | |
| X | g.129569346A>G | CA414616474 | OCRL | c.*1841A>G (n.*1841A>G) c.1666A>G c.1549A>G (p.Met517Val) c.1597A>G c.660A>G c.1200A>G c.1078A>G (p.Met360Val) c.1552A>G (p.Met518Val) c.1405A>G (p.Met469Val) | |
| X | g.129569346A>T | CA414616473 | OCRL | c.*1841A>T (n.*1841A>T) c.1666A>T c.1549A>T (p.Met517Leu) c.1597A>T c.660A>T c.1200A>T c.1078A>T (p.Met360Leu) c.1552A>T (p.Met518Leu) c.1405A>T (p.Met469Leu) | |
| X | g.129569347T>A | CA414616476 | OCRL | c.*1842T>A (n.*1842T>A) c.1667T>A c.1550T>A (p.Met517Lys) c.1598T>A c.661T>A c.1201T>A c.1079T>A (p.Met360Lys) c.1553T>A (p.Met518Lys) c.1406T>A (p.Met469Lys) | |
| X | g.129569347T>C | CA414616477 | OCRL | c.*1842T>C (n.*1842T>C) c.1667T>C c.1550T>C (p.Met517Thr) c.1598T>C c.661T>C c.1201T>C c.1079T>C (p.Met360Thr) c.1553T>C (p.Met518Thr) c.1406T>C (p.Met469Thr) | |
| X | g.129569347T>G | CA414616478 | OCRL | c.*1842T>G (n.*1842T>G) c.1667T>G c.1550T>G (p.Met517Arg) c.1598T>G c.661T>G c.1201T>G c.1079T>G (p.Met360Arg) c.1553T>G (p.Met518Arg) c.1406T>G (p.Met469Arg) | |
| X | g.129569348G>A | CA414616479 | OCRL | c.*1843G>A (n.*1843G>A) c.1668G>A c.1551G>A (p.Met517Ile) c.1599G>A c.662G>A c.1202G>A c.1080G>A (p.Met360Ile) c.1554G>A (p.Met518Ile) c.1407G>A (p.Met469Ile) | |
| X | g.129569348G>C | CA414616480 | OCRL | c.*1843G>C (n.*1843G>C) c.1668G>C c.1551G>C (p.Met517Ile) c.1599G>C c.662G>C c.1202G>C c.1080G>C (p.Met360Ile) c.1554G>C (p.Met518Ile) c.1407G>C (p.Met469Ile) | |
| X | g.129569348G>T | CA414616481 | OCRL | c.*1843G>T (n.*1843G>T) c.1668G>T c.1551G>T (p.Met517Ile) c.1599G>T c.662G>T c.1202G>T c.1080G>T (p.Met360Ile) c.1554G>T (p.Met518Ile) c.1407G>T (p.Met469Ile) | |
| X | g.129569349G>A | CA414616484 | OCRL | c.*1844G>A (n.*1844G>A) c.1669G>A c.1552G>A (p.Glu518Lys) c.1600G>A c.663G>A c.1203G>A c.1081G>A (p.Glu361Lys) c.1555G>A (p.Glu519Lys) c.1408G>A (p.Glu470Lys) | dbSNP |
| X | g.129569349G>C | CA414616482 | OCRL | c.*1844G>C (n.*1844G>C) c.1669G>C c.1552G>C (p.Glu518Gln) c.1600G>C c.663G>C c.1203G>C c.1081G>C (p.Glu361Gln) c.1555G>C (p.Glu519Gln) c.1408G>C (p.Glu470Gln) | |
| X | g.129569349G= | CA2458101726 | OCRL | c.*1844G= (n.*1844G=) c.1669G= c.1552G= (p.Glu518=) c.1600G= c.663G= c.1203G= c.1081G= (p.Glu361=) c.1555G= (p.Glu519=) c.1408G= (p.Glu470=) | |
| X | g.129569349G>T | CA414616483 | OCRL | c.*1844G>T (n.*1844G>T) c.1669G>T c.1552G>T (p.Glu518Ter) c.1600G>T c.663G>T c.1203G>T c.1081G>T (p.Glu361Ter) c.1555G>T (p.Glu519Ter) c.1408G>T (p.Glu470Ter) | |
| X | g.129569350A>C | CA414616485 | OCRL | c.*1845A>C (n.*1845A>C) c.1670A>C c.1553A>C (p.Glu518Ala) c.1601A>C c.664A>C c.1204A>C c.1082A>C (p.Glu361Ala) c.1556A>C (p.Glu519Ala) c.1409A>C (p.Glu470Ala) | |
| X | g.129569350A>G | CA414616486 | OCRL | c.*1845A>G (n.*1845A>G) c.1670A>G c.1553A>G (p.Glu518Gly) c.1601A>G c.664A>G c.1204A>G c.1082A>G (p.Glu361Gly) c.1556A>G (p.Glu519Gly) c.1409A>G (p.Glu470Gly) | |
| X | g.129569350A>T | CA414616487 | OCRL | c.*1845A>T (n.*1845A>T) c.1670A>T c.1553A>T (p.Glu518Val) c.1601A>T c.664A>T c.1204A>T c.1082A>T (p.Glu361Val) c.1556A>T (p.Glu519Val) c.1409A>T (p.Glu470Val) | |
| X | g.129569351A= | CA2458101727 | OCRL | c.*1846A= (n.*1846A=) c.1671A= c.1554A= (p.Glu518=) c.1602A= c.665A= c.1205A= c.1083A= (p.Glu361=) c.1557A= (p.Glu519=) c.1410A= (p.Glu470=) | |
| X | g.129569351A>C | CA414616488 | OCRL | c.*1846A>C (n.*1846A>C) c.1671A>C c.1554A>C (p.Glu518Asp) c.1602A>C c.665A>C c.1205A>C c.1083A>C (p.Glu361Asp) c.1557A>C (p.Glu519Asp) c.1410A>C (p.Glu470Asp) | |
| X | g.129569351A>G | CA518545920 | OCRL | c.*1846A>G (n.*1846A>G) c.1671A>G c.1554A>G (p.Glu518=) c.1602A>G c.665A>G c.1205A>G c.1083A>G (p.Glu361=) c.1557A>G (p.Glu519=) c.1410A>G (p.Glu470=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.129569351A>T | CA414616489 | OCRL | c.*1846A>T (n.*1846A>T) c.1671A>T c.1554A>T (p.Glu518Asp) c.1602A>T c.665A>T c.1205A>T c.1083A>T (p.Glu361Asp) c.1557A>T (p.Glu519Asp) c.1410A>T (p.Glu470Asp) | |
| X | g.129569352C>A | CA414616490 | OCRL | c.*1847C>A (n.*1847C>A) c.1672C>A c.1555C>A (p.Leu519Met) c.1603C>A c.666C>A c.1206C>A c.1084C>A (p.Leu362Met) c.1558C>A (p.Leu520Met) c.1411C>A (p.Leu471Met) | |
| X | g.129569352C>G | CA414616491 | OCRL | c.*1847C>G (n.*1847C>G) c.1672C>G c.1555C>G (p.Leu519Val) c.1603C>G c.666C>G c.1206C>G c.1084C>G (p.Leu362Val) c.1558C>G (p.Leu520Val) c.1411C>G (p.Leu471Val) | |
| X | g.129569352C>T | CA518545921 | OCRL | c.*1847C>T (n.*1847C>T) c.1672C>T c.1555C>T (p.Leu519=) c.1603C>T c.666C>T c.1206C>T c.1084C>T (p.Leu362=) c.1558C>T (p.Leu520=) c.1411C>T (p.Leu471=) | |
| X | g.129569353T>A | CA414616492 | OCRL | c.*1848T>A (n.*1848T>A) c.1673T>A c.1556T>A (p.Leu519Gln) c.1604T>A c.667T>A c.1207T>A c.1085T>A (p.Leu362Gln) c.1559T>A (p.Leu520Gln) c.1412T>A (p.Leu471Gln) | |
| X | g.129569353T>C | CA414616493 | OCRL | c.*1848T>C (n.*1848T>C) c.1673T>C c.1556T>C (p.Leu519Pro) c.1604T>C c.667T>C c.1207T>C c.1085T>C (p.Leu362Pro) c.1559T>C (p.Leu520Pro) c.1412T>C (p.Leu471Pro) | |
| X | g.129569353T>G | CA414616494 | OCRL | c.*1848T>G (n.*1848T>G) c.1673T>G c.1556T>G (p.Leu519Arg) c.1604T>G c.667T>G c.1207T>G c.1085T>G (p.Leu362Arg) c.1559T>G (p.Leu520Arg) c.1412T>G (p.Leu471Arg) | |
| X | g.129569354G>A | CA518545922 | OCRL | c.*1849G>A (n.*1849G>A) c.1674G>A c.1557G>A (p.Leu519=) c.1605G>A c.668G>A c.1208G>A c.1086G>A (p.Leu362=) c.1560G>A (p.Leu520=) c.1413G>A (p.Leu471=) | |
| X | g.129569354G>C | CA518545923 | OCRL | c.*1849G>C (n.*1849G>C) c.1674G>C c.1557G>C (p.Leu519=) c.1605G>C c.668G>C c.1208G>C c.1086G>C (p.Leu362=) c.1560G>C (p.Leu520=) c.1413G>C (p.Leu471=) | |
| X | g.129569354G>T | CA518545924 | OCRL | c.*1849G>T (n.*1849G>T) c.1674G>T c.1557G>T (p.Leu519=) c.1605G>T c.668G>T c.1208G>T c.1086G>T (p.Leu362=) c.1560G>T (p.Leu520=) c.1413G>T (p.Leu471=) | |
| X | g.129569355A>C | CA414616495 | OCRL | c.*1850A>C (n.*1850A>C) c.1675A>C c.1558A>C (p.Lys520Gln) c.1606A>C c.669A>C c.1209A>C c.1087A>C (p.Lys363Gln) c.1561A>C (p.Lys521Gln) c.1414A>C (p.Lys472Gln) | |
| X | g.129569355A>G | CA414616496 | OCRL | c.*1850A>G (n.*1850A>G) c.1675A>G c.1558A>G (p.Lys520Glu) c.1606A>G c.669A>G c.1209A>G c.1087A>G (p.Lys363Glu) c.1561A>G (p.Lys521Glu) c.1414A>G (p.Lys472Glu) | |
| X | g.129569355A>T | CA414616497 | OCRL | c.*1850A>T (n.*1850A>T) c.1675A>T c.1558A>T (p.Lys520Ter) c.1606A>T c.669A>T c.1209A>T c.1087A>T (p.Lys363Ter) c.1561A>T (p.Lys521Ter) c.1414A>T (p.Lys472Ter) | |
| X | g.129569356A>C | CA414616498 | OCRL | c.*1851A>C (n.*1851A>C) c.1676A>C c.1559A>C (p.Lys520Thr) c.1607A>C c.670A>C c.1210A>C c.1088A>C (p.Lys363Thr) c.1562A>C (p.Lys521Thr) c.1415A>C (p.Lys472Thr) | |
| X | g.129569356A>G | CA414616500 | OCRL | c.*1851A>G (n.*1851A>G) c.1676A>G c.1559A>G (p.Lys520Arg) c.1607A>G c.670A>G c.1210A>G c.1088A>G (p.Lys363Arg) c.1562A>G (p.Lys521Arg) c.1415A>G (p.Lys472Arg) | |
| X | g.129569356A>T | CA414616499 | OCRL | c.*1851A>T (n.*1851A>T) c.1676A>T c.1559A>T (p.Lys520Ile) c.1607A>T c.670A>T c.1210A>T c.1088A>T (p.Lys363Ile) c.1562A>T (p.Lys521Ile) c.1415A>T (p.Lys472Ile) | |
| X | g.129569357A>C | CA414616501 | OCRL | c.*1852A>C (n.*1852A>C) c.1677A>C c.1560A>C (p.Lys520Asn) c.1608A>C c.671A>C c.1211A>C c.1089A>C (p.Lys363Asn) c.1563A>C (p.Lys521Asn) c.1416A>C (p.Lys472Asn) | |
| X | g.129569357A>G | CA518545925 | OCRL | c.*1852A>G (n.*1852A>G) c.1677A>G c.1560A>G (p.Lys520=) c.1608A>G c.671A>G c.1211A>G c.1089A>G (p.Lys363=) c.1563A>G (p.Lys521=) c.1416A>G (p.Lys472=) | |
| X | g.129569357A>T | CA414616502 | OCRL | c.*1852A>T (n.*1852A>T) c.1677A>T c.1560A>T (p.Lys520Asn) c.1608A>T c.671A>T c.1211A>T c.1089A>T (p.Lys363Asn) c.1563A>T (p.Lys521Asn) c.1416A>T (p.Lys472Asn) | |
| X | g.129569358A>C | CA414616503 | OCRL | c.*1853A>C (n.*1853A>C) c.1678A>C c.1561A>C (p.Thr521Pro) c.1609A>C c.672A>C c.1212A>C c.1090A>C (p.Thr364Pro) c.1564A>C (p.Thr522Pro) c.1417A>C (p.Thr473Pro) | |
| X | g.129569358A>G | CA414616504 | OCRL | c.*1853A>G (n.*1853A>G) c.1678A>G c.1561A>G (p.Thr521Ala) c.1609A>G c.672A>G c.1212A>G c.1090A>G (p.Thr364Ala) c.1564A>G (p.Thr522Ala) c.1417A>G (p.Thr473Ala) | |
| X | g.129569358A>T | CA414616505 | OCRL | c.*1853A>T (n.*1853A>T) c.1678A>T c.1561A>T (p.Thr521Ser) c.1609A>T c.672A>T c.1212A>T c.1090A>T (p.Thr364Ser) c.1564A>T (p.Thr522Ser) c.1417A>T (p.Thr473Ser) | |
| X | g.129569359C>A | CA414616508 | OCRL | c.*1854C>A (n.*1854C>A) c.1679C>A c.1562C>A (p.Thr521Asn) c.1610C>A c.673C>A c.1213C>A c.1091C>A (p.Thr364Asn) c.1565C>A (p.Thr522Asn) c.1418C>A (p.Thr473Asn) | |
| X | g.129569359C>G | CA414616507 | OCRL | c.*1854C>G (n.*1854C>G) c.1679C>G c.1562C>G (p.Thr521Ser) c.1610C>G c.673C>G c.1213C>G c.1091C>G (p.Thr364Ser) c.1565C>G (p.Thr522Ser) c.1418C>G (p.Thr473Ser) | |
| X | g.129569359C>T | CA414616506 | OCRL | c.*1854C>T (n.*1854C>T) c.1679C>T c.1562C>T (p.Thr521Ile) c.1610C>T c.673C>T c.1213C>T c.1091C>T (p.Thr364Ile) c.1565C>T (p.Thr522Ile) c.1418C>T (p.Thr473Ile) | |
| X | g.129569360C>A | CA518545926 | OCRL | c.*1855C>A (n.*1855C>A) c.1680C>A c.1563C>A (p.Thr521=) c.1611C>A c.674C>A c.1214C>A c.1092C>A (p.Thr364=) c.1566C>A (p.Thr522=) c.1419C>A (p.Thr473=) | |
| X | g.129569360C>G | CA518545928 | OCRL | c.*1855C>G (n.*1855C>G) c.1680C>G c.1563C>G (p.Thr521=) c.1611C>G c.674C>G c.1214C>G c.1092C>G (p.Thr364=) c.1566C>G (p.Thr522=) c.1419C>G (p.Thr473=) | |
| X | g.129569360C>T | CA518545927 | OCRL | c.*1855C>T (n.*1855C>T) c.1680C>T c.1563C>T (p.Thr521=) c.1611C>T c.674C>T c.1214C>T c.1092C>T (p.Thr364=) c.1566C>T (p.Thr522=) c.1419C>T (p.Thr473=) | gnomAD v4 |
| X | g.129569361A>C | CA414616509 | OCRL | c.*1856A>C (n.*1856A>C) c.1681A>C c.1564A>C (p.Ser522Arg) c.1612A>C c.675A>C c.1215A>C c.1093A>C (p.Ser365Arg) c.1567A>C (p.Ser523Arg) c.1420A>C (p.Ser474Arg) | |
| X | g.129569361A>G | CA414616510 | OCRL | c.*1856A>G (n.*1856A>G) c.1681A>G c.1564A>G (p.Ser522Gly) c.1612A>G c.675A>G c.1215A>G c.1093A>G (p.Ser365Gly) c.1567A>G (p.Ser523Gly) c.1420A>G (p.Ser474Gly) | |
| X | g.129569361A>T | CA414616511 | OCRL | c.*1856A>T (n.*1856A>T) c.1681A>T c.1564A>T (p.Ser522Cys) c.1612A>T c.675A>T c.1215A>T c.1093A>T (p.Ser365Cys) c.1567A>T (p.Ser523Cys) c.1420A>T (p.Ser474Cys) | |
| X | g.129569362G>A | CA414616512 | OCRL | c.*1857G>A (n.*1857G>A) c.1682G>A c.1565G>A (p.Ser522Asn) c.1613G>A c.676G>A c.1216G>A c.1094G>A (p.Ser365Asn) c.1568G>A (p.Ser523Asn) c.1421G>A (p.Ser474Asn) | ClinVar dbSNP |
| X | g.129569362G>C | CA414616513 | OCRL | c.*1857G>C (n.*1857G>C) c.1682G>C c.1565G>C (p.Ser522Thr) c.1613G>C c.676G>C c.1216G>C c.1094G>C (p.Ser365Thr) c.1568G>C (p.Ser523Thr) c.1421G>C (p.Ser474Thr) | |
| X | g.129569362G>T | CA414616514 | OCRL | c.*1857G>T (n.*1857G>T) c.1682G>T c.1565G>T (p.Ser522Ile) c.1613G>T c.676G>T c.1216G>T c.1094G>T (p.Ser365Ile) c.1568G>T (p.Ser523Ile) c.1421G>T (p.Ser474Ile) | |
| X | g.129569363C>A | CA414616515 | OCRL | c.*1858C>A (n.*1858C>A) c.1683C>A c.1566C>A (p.Ser522Arg) c.1614C>A c.677C>A c.1217C>A c.1095C>A (p.Ser365Arg) c.1569C>A (p.Ser523Arg) c.1422C>A (p.Ser474Arg) | |
| X | g.129569363C= | CA2458101728 | OCRL | c.*1858C= (n.*1858C=) c.1683C= c.1566C= (p.Ser522=) c.1614C= c.677C= c.1217C= c.1095C= (p.Ser365=) c.1569C= (p.Ser523=) c.1422C= (p.Ser474=) | |
| X | g.129569363C>G | CA266160 | OCRL | c.*1858C>G (n.*1858C>G) c.1683C>G c.1566C>G (p.Ser522Arg) c.1614C>G c.677C>G c.1217C>G c.1095C>G (p.Ser365Arg) c.1569C>G (p.Ser523Arg) c.1422C>G (p.Ser474Arg) | ClinVar dbSNP |
| X | g.129569363C>T | CA10512210 | OCRL | c.*1858C>T (n.*1858C>T) c.1683C>T c.1566C>T (p.Ser522=) c.1614C>T c.677C>T c.1217C>T c.1095C>T (p.Ser365=) c.1569C>T (p.Ser523=) c.1422C>T (p.Ser474=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.129569364G>A | CA414616516 | OCRL | c.*1859G>A (n.*1859G>A) c.1684G>A c.1567G>A (p.Asp523Asn) c.1615G>A c.678G>A c.1218G>A c.1096G>A (p.Asp366Asn) c.1570G>A (p.Asp524Asn) c.1423G>A (p.Asp475Asn) | ClinVar dbSNP |
| X | g.129569364G>C | CA414616517 | OCRL | c.*1859G>C (n.*1859G>C) c.1684G>C c.1567G>C (p.Asp523His) c.1615G>C c.678G>C c.1218G>C c.1096G>C (p.Asp366His) c.1570G>C (p.Asp524His) c.1423G>C (p.Asp475His) | |
| X | g.129569364G>T | CA414616518 | OCRL | c.*1859G>T (n.*1859G>T) c.1684G>T c.1567G>T (p.Asp523Tyr) c.1615G>T c.678G>T c.1218G>T c.1096G>T (p.Asp366Tyr) c.1570G>T (p.Asp524Tyr) c.1423G>T (p.Asp475Tyr) | gnomAD v4 |
| X | g.129569365A= | CA2458101729 | OCRL | c.*1860A= (n.*1860A=) c.1685A= c.1568A= (p.Asp523=) c.1616A= c.679A= c.1219A= c.1097A= (p.Asp366=) c.1571A= (p.Asp524=) c.1424A= (p.Asp475=) | |
| X | g.129569365A>C | CA414616520 | OCRL | c.*1860A>C (n.*1860A>C) c.1685A>C c.1568A>C (p.Asp523Ala) c.1616A>C c.679A>C c.1219A>C c.1097A>C (p.Asp366Ala) c.1571A>C (p.Asp524Ala) c.1424A>C (p.Asp475Ala) | ClinVar dbSNP |
| X | g.129569365A>G | CA414616521 | OCRL | c.*1860A>G (n.*1860A>G) c.1685A>G c.1568A>G (p.Asp523Gly) c.1616A>G c.679A>G c.1219A>G c.1097A>G (p.Asp366Gly) c.1571A>G (p.Asp524Gly) c.1424A>G (p.Asp475Gly) | |
| X | g.129569365A>T | CA414616522 | OCRL | c.*1860A>T (n.*1860A>T) c.1685A>T c.1568A>T (p.Asp523Val) c.1616A>T c.679A>T c.1219A>T c.1097A>T (p.Asp366Val) c.1571A>T (p.Asp524Val) c.1424A>T (p.Asp475Val) | |
| X | g.129569366C>A | CA414616523 | OCRL | c.*1861C>A (n.*1861C>A) c.1686C>A c.1569C>A (p.Asp523Glu) c.1617C>A c.680C>A c.1220C>A c.1098C>A (p.Asp366Glu) c.1572C>A (p.Asp524Glu) c.1425C>A (p.Asp475Glu) | |
| X | g.129569366C>G | CA414616524 | OCRL | c.*1861C>G (n.*1861C>G) c.1686C>G c.1569C>G (p.Asp523Glu) c.1617C>G c.680C>G c.1220C>G c.1098C>G (p.Asp366Glu) c.1572C>G (p.Asp524Glu) c.1425C>G (p.Asp475Glu) | |
| X | g.129569366C>T | CA518545929 | OCRL | c.*1861C>T (n.*1861C>T) c.1686C>T c.1569C>T (p.Asp523=) c.1617C>T c.680C>T c.1220C>T c.1098C>T (p.Asp366=) c.1572C>T (p.Asp524=) c.1425C>T (p.Asp475=) | COSMIC |
| X | g.129569367del | CA2579697999 | OCRL | c.*1862del (n.*1862del) c.1687del c.1570del (p.His524ThrfsTer12) c.1618del c.681del c.1221del c.1099del (p.His367ThrfsTer12) c.1573del (p.His525ThrfsTer12) c.1426del (p.His476ThrfsTer12) | |
| X | g.129569367C>A | CA414616525 | OCRL | c.*1862C>A (n.*1862C>A) c.1687C>A c.1570C>A (p.His524Asn) c.1618C>A c.681C>A c.1221C>A c.1099C>A (p.His367Asn) c.1573C>A (p.His525Asn) c.1426C>A (p.His476Asn) | |
| X | g.129569367C= | CA2458101730 | OCRL | c.*1862C= (n.*1862C=) c.1687C= c.1570C= (p.His524=) c.1618C= c.681C= c.1221C= c.1099C= (p.His367=) c.1573C= (p.His525=) c.1426C= (p.His476=) | |
| X | g.129569367C>G | CA414616526 | OCRL | c.*1862C>G (n.*1862C>G) c.1687C>G c.1570C>G (p.His524Asp) c.1618C>G c.681C>G c.1221C>G c.1099C>G (p.His367Asp) c.1573C>G (p.His525Asp) c.1426C>G (p.His476Asp) | |
| X | g.129569367C>T | CA16608732 | OCRL | c.*1862C>T (n.*1862C>T) c.1687C>T c.1570C>T (p.His524Tyr) c.1618C>T c.681C>T c.1221C>T c.1099C>T (p.His367Tyr) c.1573C>T (p.His525Tyr) c.1426C>T (p.His476Tyr) | ClinVar dbSNP |
| X | g.129569368A= | CA2458101731 | OCRL | c.*1863A= (n.*1863A=) c.1688A= c.1571A= (p.His524=) c.1619A= c.682A= c.1222A= c.1100A= (p.His367=) c.1574A= (p.His525=) c.1427A= (p.His476=) | |
| X | g.129569368A>C | CA414616527 | OCRL | c.*1863A>C (n.*1863A>C) c.1688A>C c.1571A>C (p.His524Pro) c.1619A>C c.682A>C c.1222A>C c.1100A>C (p.His367Pro) c.1574A>C (p.His525Pro) c.1427A>C (p.His476Pro) | |
| X | g.129569368A>G | CA266161 | OCRL | c.*1863A>G (n.*1863A>G) c.1688A>G c.1571A>G (p.His524Arg) c.1619A>G c.682A>G c.1222A>G c.1100A>G (p.His367Arg) c.1574A>G (p.His525Arg) c.1427A>G (p.His476Arg) | ClinVar dbSNP |
| X | g.129569368A>T | CA414616528 | OCRL | c.*1863A>T (n.*1863A>T) c.1688A>T c.1571A>T (p.His524Leu) c.1619A>T c.682A>T c.1222A>T c.1100A>T (p.His367Leu) c.1574A>T (p.His525Leu) c.1427A>T (p.His476Leu) | |
| X | g.129569369C>A | CA414616529 | OCRL | c.*1864C>A (n.*1864C>A) c.1689C>A c.1572C>A (p.His524Gln) c.1620C>A c.683C>A c.1223C>A c.1101C>A (p.His367Gln) c.1575C>A (p.His525Gln) c.1428C>A (p.His476Gln) | |
| X | g.129569369C= | CA2458101732 | OCRL | c.*1864C= (n.*1864C=) c.1689C= c.1572C= (p.His524=) c.1620C= c.683C= c.1223C= c.1101C= (p.His367=) c.1575C= (p.His525=) c.1428C= (p.His476=) | |
| X | g.129569369C>G | CA255585 | OCRL | c.*1864C>G (n.*1864C>G) c.1689C>G c.1572C>G (p.His524Gln) c.1620C>G c.683C>G c.1223C>G c.1101C>G (p.His367Gln) c.1575C>G (p.His525Gln) c.1428C>G (p.His476Gln) | ClinVar dbSNP |
| X | g.129569369C>T | CA518545930 | OCRL | c.*1864C>T (n.*1864C>T) c.1689C>T c.1572C>T (p.His524=) c.1620C>T c.683C>T c.1223C>T c.1101C>T (p.His367=) c.1575C>T (p.His525=) c.1428C>T (p.His476=) | |
| X | g.129569370A= | CA2458101733 | OCRL | c.*1865A= (n.*1865A=) c.1690A= c.1573A= (p.Lys525=) c.1621A= c.684A= c.1224A= c.1102A= (p.Lys368=) c.1576A= (p.Lys526=) c.1429A= (p.Lys477=) | |
| X | g.129569370A>C | CA16608262 | OCRL | c.*1865A>C (n.*1865A>C) c.1690A>C c.1573A>C (p.Lys525Gln) c.1621A>C c.684A>C c.1224A>C c.1102A>C (p.Lys368Gln) c.1576A>C (p.Lys526Gln) c.1429A>C (p.Lys477Gln) | ClinVar dbSNP |
| X | g.129569370A>G | CA414616530 | OCRL | c.*1865A>G (n.*1865A>G) c.1690A>G c.1573A>G (p.Lys525Glu) c.1621A>G c.684A>G c.1224A>G c.1102A>G (p.Lys368Glu) c.1576A>G (p.Lys526Glu) c.1429A>G (p.Lys477Glu) | |
| X | g.129569370A>T | CA414616531 | OCRL | c.*1865A>T (n.*1865A>T) c.1690A>T c.1573A>T (p.Lys525Ter) c.1621A>T c.684A>T c.1224A>T c.1102A>T (p.Lys368Ter) c.1576A>T (p.Lys526Ter) c.1429A>T (p.Lys477Ter) |