| 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=) |