| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| X | g.129569371A>C | CA414616532 | OCRL | c.*1866A>C (n.*1866A>C) c.1691A>C c.1574A>C (p.Lys525Thr) c.1622A>C c.685A>C c.1225A>C c.1103A>C (p.Lys368Thr) c.1577A>C (p.Lys526Thr) c.1430A>C (p.Lys477Thr) | |
| X | g.129569371A>G | CA414616533 | OCRL | c.*1866A>G (n.*1866A>G) c.1691A>G c.1574A>G (p.Lys525Arg) c.1622A>G c.685A>G c.1225A>G c.1103A>G (p.Lys368Arg) c.1577A>G (p.Lys526Arg) c.1430A>G (p.Lys477Arg) | |
| X | g.129569371A>T | CA414616534 | OCRL | c.*1866A>T (n.*1866A>T) c.1691A>T c.1574A>T (p.Lys525Met) c.1622A>T c.685A>T c.1225A>T c.1103A>T (p.Lys368Met) c.1577A>T (p.Lys526Met) c.1430A>T (p.Lys477Met) | |
| X | g.129569372G>A | CA518545931 | OCRL | c.*1867G>A (n.*1867G>A) c.1692G>A c.1575G>A (p.Lys525=) c.1623G>A c.686G>A c.1226G>A c.1104G>A (p.Lys368=) c.1578G>A (p.Lys526=) c.1431G>A (p.Lys477=) | |
| X | g.129569372G>C | CA414616535 | OCRL | c.*1867G>C (n.*1867G>C) c.1692G>C c.1575G>C (p.Lys525Asn) c.1623G>C c.686G>C c.1226G>C c.1104G>C (p.Lys368Asn) c.1578G>C (p.Lys526Asn) c.1431G>C (p.Lys477Asn) | |
| X | g.129569372G>T | CA414616536 | OCRL | c.*1867G>T (n.*1867G>T) c.1692G>T c.1575G>T (p.Lys525Asn) c.1623G>T c.686G>T c.1226G>T c.1104G>T (p.Lys368Asn) c.1578G>T (p.Lys526Asn) c.1431G>T (p.Lys477Asn) | |
| X | g.129569373C>A | CA414616537 | OCRL | c.*1868C>A (n.*1868C>A) c.1693C>A c.1576C>A (p.Pro526Thr) c.1624C>A c.687C>A c.1227C>A c.1105C>A (p.Pro369Thr) c.1579C>A (p.Pro527Thr) c.1432C>A (p.Pro478Thr) | gnomAD v4 |
| X | g.129569373C= | CA2458101734 | OCRL | c.*1868C= (n.*1868C=) c.1693C= c.1576C= (p.Pro526=) c.1624C= c.687C= c.1227C= c.1105C= (p.Pro369=) c.1579C= (p.Pro527=) c.1432C= (p.Pro478=) | |
| X | g.129569373C>G | CA414616538 | OCRL | c.*1868C>G (n.*1868C>G) c.1693C>G c.1576C>G (p.Pro526Ala) c.1624C>G c.687C>G c.1227C>G c.1105C>G (p.Pro369Ala) c.1579C>G (p.Pro527Ala) c.1432C>G (p.Pro478Ala) | |
| X | g.129569373C>T | CA10588739 | OCRL | c.*1868C>T (n.*1868C>T) c.1693C>T c.1576C>T (p.Pro526Ser) c.1624C>T c.687C>T c.1227C>T c.1105C>T (p.Pro369Ser) c.1579C>T (p.Pro527Ser) c.1432C>T (p.Pro478Ser) | ClinVar dbSNP |
| X | g.129569374C>A | CA414616540 | OCRL | c.*1869C>A (n.*1869C>A) c.1694C>A c.1577C>A (p.Pro526His) c.1625C>A c.688C>A c.1228C>A c.1106C>A (p.Pro369His) c.1580C>A (p.Pro527His) c.1433C>A (p.Pro478His) | |
| X | g.129569374C= | CA2458101735 | OCRL | c.*1869C= (n.*1869C=) c.1694C= c.1577C= (p.Pro526=) c.1625C= c.688C= c.1228C= c.1106C= (p.Pro369=) c.1580C= (p.Pro527=) c.1433C= (p.Pro478=) | |
| X | g.129569374C>G | CA414616539 | OCRL | c.*1869C>G (n.*1869C>G) c.1694C>G c.1577C>G (p.Pro526Arg) c.1625C>G c.688C>G c.1228C>G c.1106C>G (p.Pro369Arg) c.1580C>G (p.Pro527Arg) c.1433C>G (p.Pro478Arg) | |
| X | g.129569374C>T | CA266162 | OCRL | c.*1869C>T (n.*1869C>T) c.1694C>T c.1577C>T (p.Pro526Leu) c.1625C>T c.688C>T c.1228C>T c.1106C>T (p.Pro369Leu) c.1580C>T (p.Pro527Leu) c.1433C>T (p.Pro478Leu) | ClinVar dbSNP |
| X | g.129569375T>A | CA518545933 | OCRL | c.*1870T>A (n.*1870T>A) c.1695T>A c.1578T>A (p.Pro526=) c.1626T>A c.689T>A c.1229T>A c.1107T>A (p.Pro369=) c.1581T>A (p.Pro527=) c.1434T>A (p.Pro478=) | |
| X | g.129569375T>C | CA518545934 | OCRL | c.*1870T>C (n.*1870T>C) c.1695T>C c.1578T>C (p.Pro526=) c.1626T>C c.689T>C c.1229T>C c.1107T>C (p.Pro369=) c.1581T>C (p.Pro527=) c.1434T>C (p.Pro478=) | |
| X | g.129569375T>G | CA518545935 | OCRL | c.*1870T>G (n.*1870T>G) c.1695T>G c.1578T>G (p.Pro526=) c.1626T>G c.689T>G c.1229T>G c.1107T>G (p.Pro369=) c.1581T>G (p.Pro527=) c.1434T>G (p.Pro478=) | |
| X | g.129569376G>A | CA414616541 | OCRL | c.*1871G>A (n.*1871G>A) c.1696G>A c.1579G>A (p.Val527Ile) c.1627G>A c.690G>A c.1230G>A c.1108G>A (p.Val370Ile) c.1582G>A (p.Val528Ile) c.1435G>A (p.Val479Ile) | |
| X | g.129569376G>C | CA414616542 | OCRL | c.*1871G>C (n.*1871G>C) c.1696G>C c.1579G>C (p.Val527Leu) c.1627G>C c.690G>C c.1230G>C c.1108G>C (p.Val370Leu) c.1582G>C (p.Val528Leu) c.1435G>C (p.Val479Leu) | |
| X | g.129569376G>T | CA414616543 | OCRL | c.*1871G>T (n.*1871G>T) c.1696G>T c.1579G>T (p.Val527Phe) c.1627G>T c.690G>T c.1230G>T c.1108G>T (p.Val370Phe) c.1582G>T (p.Val528Phe) c.1435G>T (p.Val479Phe) | |
| X | g.129569377T>A | CA414616544 | OCRL | c.*1872T>A (n.*1872T>A) c.1697T>A c.1580T>A (p.Val527Asp) c.1628T>A c.691T>A c.1231T>A c.1109T>A (p.Val370Asp) c.1583T>A (p.Val528Asp) c.1436T>A (p.Val479Asp) | ClinVar |
| X | g.129569377T>C | CA414616545 | OCRL | c.*1872T>C (n.*1872T>C) c.1697T>C c.1580T>C (p.Val527Ala) c.1628T>C c.691T>C c.1231T>C c.1109T>C (p.Val370Ala) c.1583T>C (p.Val528Ala) c.1436T>C (p.Val479Ala) | |
| X | g.129569377T>G | CA414616546 | OCRL | c.*1872T>G (n.*1872T>G) c.1697T>G c.1580T>G (p.Val527Gly) c.1628T>G c.691T>G c.1231T>G c.1109T>G (p.Val370Gly) c.1583T>G (p.Val528Gly) c.1436T>G (p.Val479Gly) | |
| X | g.129569378T>A | CA518545936 | OCRL | c.*1873T>A (n.*1873T>A) c.1698T>A c.1581T>A (p.Val527=) c.1629T>A c.692T>A c.1232T>A c.1110T>A (p.Val370=) c.1584T>A (p.Val528=) c.1437T>A (p.Val479=) | |
| X | g.129569378T>C | CA518545937 | OCRL | c.*1873T>C (n.*1873T>C) c.1698T>C c.1581T>C (p.Val527=) c.1629T>C c.692T>C c.1232T>C c.1110T>C (p.Val370=) c.1584T>C (p.Val528=) c.1437T>C (p.Val479=) | |
| X | g.129569378T>G | CA518545938 | OCRL | c.*1873T>G (n.*1873T>G) c.1698T>G c.1581T>G (p.Val527=) c.1629T>G c.692T>G c.1232T>G c.1110T>G (p.Val370=) c.1584T>G (p.Val528=) c.1437T>G (p.Val479=) | |
| X | g.129569379A>C | CA414616547 | OCRL | c.*1874A>C (n.*1874A>C) c.1699A>C c.1582A>C (p.Ser528Arg) c.1630A>C c.693A>C c.1233A>C c.1111A>C (p.Ser371Arg) c.1585A>C (p.Ser529Arg) c.1438A>C (p.Ser480Arg) | |
| X | g.129569379A>G | CA414616548 | OCRL | c.*1874A>G (n.*1874A>G) c.1699A>G c.1582A>G (p.Ser528Gly) c.1630A>G c.693A>G c.1233A>G c.1111A>G (p.Ser371Gly) c.1585A>G (p.Ser529Gly) c.1438A>G (p.Ser480Gly) | |
| X | g.129569379A>T | CA414616549 | OCRL | c.*1874A>T (n.*1874A>T) c.1699A>T c.1582A>T (p.Ser528Cys) c.1630A>T c.693A>T c.1233A>T c.1111A>T (p.Ser371Cys) c.1585A>T (p.Ser529Cys) c.1438A>T (p.Ser480Cys) | |
| X | g.129569380G>A | CA414616550 | OCRL | c.*1875G>A (n.*1875G>A) c.1700G>A c.1583G>A (p.Ser528Asn) c.1631G>A c.694G>A c.1234G>A c.1112G>A (p.Ser371Asn) c.1586G>A (p.Ser529Asn) c.1439G>A (p.Ser480Asn) | |
| X | g.129569380G>C | CA414616551 | OCRL | c.*1875G>C (n.*1875G>C) c.1700G>C c.1583G>C (p.Ser528Thr) c.1631G>C c.694G>C c.1234G>C c.1112G>C (p.Ser371Thr) c.1586G>C (p.Ser529Thr) c.1439G>C (p.Ser480Thr) | |
| X | g.129569380G>T | CA414616552 | OCRL | c.*1875G>T (n.*1875G>T) c.1700G>T c.1583G>T (p.Ser528Ile) c.1631G>T c.694G>T c.1234G>T c.1112G>T (p.Ser371Ile) c.1586G>T (p.Ser529Ile) c.1439G>T (p.Ser480Ile) | |
| X | g.129569381C>A | CA414616553 | OCRL | c.*1876C>A (n.*1876C>A) c.1701C>A c.1584C>A (p.Ser528Arg) c.1632C>A c.695C>A c.1235C>A c.1113C>A (p.Ser371Arg) c.1587C>A (p.Ser529Arg) c.1440C>A (p.Ser480Arg) | |
| X | g.129569381C= | CA2458101736 | OCRL | c.*1876C= (n.*1876C=) c.1701C= c.1584C= (p.Ser528=) c.1632C= c.695C= c.1235C= c.1113C= (p.Ser371=) c.1587C= (p.Ser529=) c.1440C= (p.Ser480=) | |
| X | g.129569381C>G | CA414616554 | OCRL | c.*1876C>G (n.*1876C>G) c.1701C>G c.1584C>G (p.Ser528Arg) c.1632C>G c.695C>G c.1235C>G c.1113C>G (p.Ser371Arg) c.1587C>G (p.Ser529Arg) c.1440C>G (p.Ser480Arg) | |
| X | g.129569381C>T | CA10512211 | OCRL | c.*1876C>T (n.*1876C>T) c.1701C>T c.1584C>T (p.Ser528=) c.1632C>T c.695C>T c.1235C>T c.1113C>T (p.Ser371=) c.1587C>T (p.Ser529=) c.1440C>T (p.Ser480=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129569382G>A | CA414616555 | OCRL | c.*1877G>A (n.*1877G>A) c.1702G>A c.1585G>A (p.Ala529Thr) c.1633G>A c.696G>A c.1236G>A c.1114G>A (p.Ala372Thr) c.1588G>A (p.Ala530Thr) c.1441G>A (p.Ala481Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.129569382G>C | CA414616556 | OCRL | c.*1877G>C (n.*1877G>C) c.1702G>C c.1585G>C (p.Ala529Pro) c.1633G>C c.696G>C c.1236G>C c.1114G>C (p.Ala372Pro) c.1588G>C (p.Ala530Pro) c.1441G>C (p.Ala481Pro) | |
| X | g.129569382G= | CA2458101737 | OCRL | c.*1877G= (n.*1877G=) c.1702G= c.1585G= (p.Ala529=) c.1633G= c.696G= c.1236G= c.1114G= (p.Ala372=) c.1588G= (p.Ala530=) c.1441G= (p.Ala481=) | |
| X | g.129569382G>T | CA414616557 | OCRL | c.*1877G>T (n.*1877G>T) c.1702G>T c.1585G>T (p.Ala529Ser) c.1633G>T c.696G>T c.1236G>T c.1114G>T (p.Ala372Ser) c.1588G>T (p.Ala530Ser) c.1441G>T (p.Ala481Ser) | ClinVar gnomAD v4 |
| X | g.129569383C>A | CA414616558 | OCRL | c.*1878C>A (n.*1878C>A) c.1703C>A c.1586C>A (p.Ala529Asp) c.1634C>A c.697C>A c.1237C>A c.1115C>A (p.Ala372Asp) c.1589C>A (p.Ala530Asp) c.1442C>A (p.Ala481Asp) | ClinVar |
| X | g.129569383C>G | CA414616559 | OCRL | c.*1878C>G (n.*1878C>G) c.1703C>G c.1586C>G (p.Ala529Gly) c.1634C>G c.697C>G c.1237C>G c.1115C>G (p.Ala372Gly) c.1589C>G (p.Ala530Gly) c.1442C>G (p.Ala481Gly) | |
| X | g.129569383C>T | CA414616560 | OCRL | c.*1878C>T (n.*1878C>T) c.1703C>T c.1586C>T (p.Ala529Val) c.1634C>T c.697C>T c.1237C>T c.1115C>T (p.Ala372Val) c.1589C>T (p.Ala530Val) c.1442C>T (p.Ala481Val) | |
| X | g.129569385del | CA645603312 | OCRL | c.*1880del (n.*1880del) c.1705del c.1588del (p.Leu530SerfsTer6) c.1636del c.699del c.1239del c.1117del (p.Leu373SerfsTer6) c.1591del (p.Leu531SerfsTer6) c.1444del (p.Leu482SerfsTer6) | COSMIC |
| X | g.129569384C>A | CA518545939 | OCRL | c.*1879C>A (n.*1879C>A) c.1704C>A c.1587C>A (p.Ala529=) c.1635C>A c.698C>A c.1238C>A c.1116C>A (p.Ala372=) c.1590C>A (p.Ala530=) c.1443C>A (p.Ala481=) | |
| X | g.129569384C= | CA2458101738 | OCRL | c.*1879C= (n.*1879C=) c.1704C= c.1587C= (p.Ala529=) c.1635C= c.698C= c.1238C= c.1116C= (p.Ala372=) c.1590C= (p.Ala530=) c.1443C= (p.Ala481=) | |
| X | g.129569384C>G | CA10512212 | OCRL | c.*1879C>G (n.*1879C>G) c.1704C>G c.1587C>G (p.Ala529=) c.1635C>G c.698C>G c.1238C>G c.1116C>G (p.Ala372=) c.1590C>G (p.Ala530=) c.1443C>G (p.Ala481=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129569384C>T | CA518545940 | OCRL | c.*1879C>T (n.*1879C>T) c.1704C>T c.1587C>T (p.Ala529=) c.1635C>T c.698C>T c.1238C>T c.1116C>T (p.Ala372=) c.1590C>T (p.Ala530=) c.1443C>T (p.Ala481=) | |
| X | g.129569385C>A | CA414616561 | OCRL | c.*1880C>A (n.*1880C>A) c.1705C>A c.1588C>A (p.Leu530Ile) c.1636C>A c.699C>A c.1239C>A c.1117C>A (p.Leu373Ile) c.1591C>A (p.Leu531Ile) c.1444C>A (p.Leu482Ile) | |
| X | g.129569385C= | CA2458101739 | OCRL | c.*1880C= (n.*1880C=) c.1705C= c.1588C= (p.Leu530=) c.1636C= c.699C= c.1239C= c.1117C= (p.Leu373=) c.1591C= (p.Leu531=) c.1444C= (p.Leu482=) | |
| X | g.129569385C>G | CA414616562 | OCRL | c.*1880C>G (n.*1880C>G) c.1705C>G c.1588C>G (p.Leu530Val) c.1636C>G c.699C>G c.1239C>G c.1117C>G (p.Leu373Val) c.1591C>G (p.Leu531Val) c.1444C>G (p.Leu482Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.129569385C>T | CA414616563 | OCRL | c.*1880C>T (n.*1880C>T) c.1705C>T c.1588C>T (p.Leu530Phe) c.1636C>T c.699C>T c.1239C>T c.1117C>T (p.Leu373Phe) c.1591C>T (p.Leu531Phe) c.1444C>T (p.Leu482Phe) | dbSNP |
| X | g.129569386T>A | CA414616564 | OCRL | c.*1881T>A (n.*1881T>A) c.1706T>A c.1589T>A (p.Leu530His) c.1637T>A c.700T>A c.1240T>A c.1118T>A (p.Leu373His) c.1592T>A (p.Leu531His) c.1445T>A (p.Leu482His) | |
| X | g.129569386T>C | CA414616565 | OCRL | c.*1881T>C (n.*1881T>C) c.1706T>C c.1589T>C (p.Leu530Pro) c.1637T>C c.700T>C c.1240T>C c.1118T>C (p.Leu373Pro) c.1592T>C (p.Leu531Pro) c.1445T>C (p.Leu482Pro) | |
| X | g.129569386T>G | CA414616566 | OCRL | c.*1881T>G (n.*1881T>G) c.1706T>G c.1589T>G (p.Leu530Arg) c.1637T>G c.700T>G c.1240T>G c.1118T>G (p.Leu373Arg) c.1592T>G (p.Leu531Arg) c.1445T>G (p.Leu482Arg) | |
| X | g.129569387C>A | CA518545941 | OCRL | c.*1882C>A (n.*1882C>A) c.1707C>A c.1590C>A (p.Leu530=) c.1638C>A c.701C>A c.1241C>A c.1119C>A (p.Leu373=) c.1593C>A (p.Leu531=) c.1446C>A (p.Leu482=) | |
| X | g.129569387C= | CA2458101740 | OCRL | c.*1882C= (n.*1882C=) c.1707C= c.1590C= (p.Leu530=) c.1638C= c.701C= c.1241C= c.1119C= (p.Leu373=) c.1593C= (p.Leu531=) c.1446C= (p.Leu482=) | |
| X | g.129569387C>G | CA335706857 | OCRL | c.*1882C>G (n.*1882C>G) c.1707C>G c.1590C>G (p.Leu530=) c.1638C>G c.701C>G c.1241C>G c.1119C>G (p.Leu373=) c.1593C>G (p.Leu531=) c.1446C>G (p.Leu482=) | dbSNP gnomAD v4 |
| X | g.129569387C>T | CA518545942 | OCRL | c.*1882C>T (n.*1882C>T) c.1707C>T c.1590C>T (p.Leu530=) c.1638C>T c.701C>T c.1241C>T c.1119C>T (p.Leu373=) c.1593C>T (p.Leu531=) c.1446C>T (p.Leu482=) | |
| X | g.129569388T>A | CA414616569 | OCRL | c.*1883T>A (n.*1883T>A) c.1708T>A c.1591T>A (p.Phe531Ile) c.1639T>A c.702T>A c.1242T>A c.1120T>A (p.Phe374Ile) c.1594T>A (p.Phe532Ile) c.1447T>A (p.Phe483Ile) | |
| X | g.129569388T>C | CA414616568 | OCRL | c.*1883T>C (n.*1883T>C) c.1708T>C c.1591T>C (p.Phe531Leu) c.1639T>C c.702T>C c.1242T>C c.1120T>C (p.Phe374Leu) c.1594T>C (p.Phe532Leu) c.1447T>C (p.Phe483Leu) | |
| X | g.129569388T>G | CA414616567 | OCRL | c.*1883T>G (n.*1883T>G) c.1708T>G c.1591T>G (p.Phe531Val) c.1639T>G c.702T>G c.1242T>G c.1120T>G (p.Phe374Val) c.1594T>G (p.Phe532Val) c.1447T>G (p.Phe483Val) | |
| X | g.129569389T>A | CA414616570 | OCRL | c.*1884T>A (n.*1884T>A) c.1709T>A c.1592T>A (p.Phe531Tyr) c.1640T>A c.703T>A c.1243T>A c.1121T>A (p.Phe374Tyr) c.1595T>A (p.Phe532Tyr) c.1448T>A (p.Phe483Tyr) | |
| X | g.129569389T>C | CA414616571 | OCRL | c.*1884T>C (n.*1884T>C) c.1709T>C c.1592T>C (p.Phe531Ser) c.1640T>C c.703T>C c.1243T>C c.1121T>C (p.Phe374Ser) c.1595T>C (p.Phe532Ser) c.1448T>C (p.Phe483Ser) | |
| X | g.129569389T>G | CA414616572 | OCRL | c.*1884T>G (n.*1884T>G) c.1709T>G c.1592T>G (p.Phe531Cys) c.1640T>G c.703T>G c.1243T>G c.1121T>G (p.Phe374Cys) c.1595T>G (p.Phe532Cys) c.1448T>G (p.Phe483Cys) | |
| X | g.129569390C>A | CA414616573 | OCRL | c.*1885C>A (n.*1885C>A) c.1710C>A c.1593C>A (p.Phe531Leu) c.1641C>A c.704C>A c.1244C>A c.1122C>A (p.Phe374Leu) c.1596C>A (p.Phe532Leu) c.1449C>A (p.Phe483Leu) | |
| X | g.129569390C>G | CA414616574 | OCRL | c.*1885C>G (n.*1885C>G) c.1710C>G c.1593C>G (p.Phe531Leu) c.1641C>G c.704C>G c.1244C>G c.1122C>G (p.Phe374Leu) c.1596C>G (p.Phe532Leu) c.1449C>G (p.Phe483Leu) | |
| X | g.129569390C>T | CA518545943 | OCRL | c.*1885C>T (n.*1885C>T) c.1710C>T c.1593C>T (p.Phe531=) c.1641C>T c.704C>T c.1244C>T c.1122C>T (p.Phe374=) c.1596C>T (p.Phe532=) c.1449C>T (p.Phe483=) | |
| X | g.129569391C>A | CA414616575 | OCRL | c.*1886C>A (n.*1886C>A) c.1711C>A c.1594C>A (p.His532Asn) c.1642C>A c.705C>A c.1245C>A c.1123C>A (p.His375Asn) c.1597C>A (p.His533Asn) c.1450C>A (p.His484Asn) | |
| X | g.129569391C>G | CA414616576 | OCRL | c.*1886C>G (n.*1886C>G) c.1711C>G c.1594C>G (p.His532Asp) c.1642C>G c.705C>G c.1245C>G c.1123C>G (p.His375Asp) c.1597C>G (p.His533Asp) c.1450C>G (p.His484Asp) | |
| X | g.129569391C>T | CA414616577 | OCRL | c.*1886C>T (n.*1886C>T) c.1711C>T c.1594C>T (p.His532Tyr) c.1642C>T c.705C>T c.1245C>T c.1123C>T (p.His375Tyr) c.1597C>T (p.His533Tyr) c.1450C>T (p.His484Tyr) | COSMIC |
| X | g.129569392A>C | CA414616578 | OCRL | c.*1887A>C (n.*1887A>C) c.1712A>C c.1595A>C (p.His532Pro) c.1643A>C c.706A>C c.1246A>C c.1124A>C (p.His375Pro) c.1598A>C (p.His533Pro) c.1451A>C (p.His484Pro) | |
| X | g.129569392A>G | CA414616579 | OCRL | c.*1887A>G (n.*1887A>G) c.1712A>G c.1595A>G (p.His532Arg) c.1643A>G c.706A>G c.1246A>G c.1124A>G (p.His375Arg) c.1598A>G (p.His533Arg) c.1451A>G (p.His484Arg) | ClinVar gnomAD v4 |
| X | g.129569392A>T | CA414616580 | OCRL | c.*1887A>T (n.*1887A>T) c.1712A>T c.1595A>T (p.His532Leu) c.1643A>T c.706A>T c.1246A>T c.1124A>T (p.His375Leu) c.1598A>T (p.His533Leu) c.1451A>T (p.His484Leu) | |
| X | g.129569393T>A | CA414616581 | OCRL | c.*1888T>A (n.*1888T>A) c.1713T>A c.1596T>A (p.His532Gln) c.1644T>A c.707T>A c.1247T>A c.1125T>A (p.His375Gln) c.1599T>A (p.His533Gln) c.1452T>A (p.His484Gln) | |
| X | g.129569393T>C | CA518545944 | OCRL | c.*1888T>C (n.*1888T>C) c.1713T>C c.1596T>C (p.His532=) c.1644T>C c.707T>C c.1247T>C c.1125T>C (p.His375=) c.1599T>C (p.His533=) c.1452T>C (p.His484=) | |
| X | g.129569393T>G | CA414616582 | OCRL | c.*1888T>G (n.*1888T>G) c.1713T>G c.1596T>G (p.His532Gln) c.1644T>G c.707T>G c.1247T>G c.1125T>G (p.His375Gln) c.1599T>G (p.His533Gln) c.1452T>G (p.His484Gln) | |
| X | g.129569394A>C | CA414616584 | OCRL | c.*1889A>C (n.*1889A>C) c.1714A>C c.1597A>C (p.Ile533Leu) c.1645A>C c.708A>C c.1248A>C c.1126A>C (p.Ile376Leu) c.1600A>C (p.Ile534Leu) c.1453A>C (p.Ile485Leu) | |
| X | g.129569394A>G | CA414616585 | OCRL | c.*1889A>G (n.*1889A>G) c.1714A>G c.1597A>G (p.Ile533Val) c.1645A>G c.708A>G c.1248A>G c.1126A>G (p.Ile376Val) c.1600A>G (p.Ile534Val) c.1453A>G (p.Ile485Val) | gnomAD v4 |
| X | g.129569394A>T | CA414616583 | OCRL | c.*1889A>T (n.*1889A>T) c.1714A>T c.1597A>T (p.Ile533Phe) c.1645A>T c.708A>T c.1248A>T c.1126A>T (p.Ile376Phe) c.1600A>T (p.Ile534Phe) c.1453A>T (p.Ile485Phe) | |
| X | g.129569395T>A | CA414616587 | OCRL | c.*1890T>A (n.*1890T>A) c.1715T>A c.1598T>A (p.Ile533Asn) c.1646T>A c.709T>A c.1249T>A c.1127T>A (p.Ile376Asn) c.1601T>A (p.Ile534Asn) c.1454T>A (p.Ile485Asn) | dbSNP |
| X | g.129569395T>C | CA414616586 | OCRL | c.*1890T>C (n.*1890T>C) c.1715T>C c.1598T>C (p.Ile533Thr) c.1646T>C c.709T>C c.1249T>C c.1127T>C (p.Ile376Thr) c.1601T>C (p.Ile534Thr) c.1454T>C (p.Ile485Thr) | ClinVar dbSNP gnomAD v4 |
| X | g.129569395T>G | CA414616588 | OCRL | c.*1890T>G (n.*1890T>G) c.1715T>G c.1598T>G (p.Ile533Ser) c.1646T>G c.709T>G c.1249T>G c.1127T>G (p.Ile376Ser) c.1601T>G (p.Ile534Ser) c.1454T>G (p.Ile485Ser) | |
| X | g.129569396T>A | CA518545945 | OCRL | c.*1891T>A (n.*1891T>A) c.1716T>A c.1599T>A (p.Ile533=) c.1647T>A c.710T>A c.1250T>A c.1128T>A (p.Ile376=) c.1602T>A (p.Ile534=) c.1455T>A (p.Ile485=) | |
| X | g.129569396T>C | CA518545946 | OCRL | c.*1891T>C (n.*1891T>C) c.1716T>C c.1599T>C (p.Ile533=) c.1647T>C c.710T>C c.1250T>C c.1128T>C (p.Ile376=) c.1602T>C (p.Ile534=) c.1455T>C (p.Ile485=) | |
| X | g.129569396T>G | CA414616589 | OCRL | c.*1891T>G (n.*1891T>G) c.1716T>G c.1599T>G (p.Ile533Met) c.1647T>G c.710T>G c.1250T>G c.1128T>G (p.Ile376Met) c.1602T>G (p.Ile534Met) c.1455T>G (p.Ile485Met) | |
| X | g.129569397G>A | CA414616592 | OCRL | c.*1892G>A (n.*1892G>A) c.1717G>A c.1600G>A (p.Gly534Arg) c.1648G>A c.711G>A c.1251G>A c.1129G>A (p.Gly377Arg) c.1603G>A (p.Gly535Arg) c.1456G>A (p.Gly486Arg) | |
| X | g.129569397G>C | CA414616590 | OCRL | c.*1892G>C (n.*1892G>C) c.1717G>C c.1600G>C (p.Gly534Arg) c.1648G>C c.711G>C c.1251G>C c.1129G>C (p.Gly377Arg) c.1603G>C (p.Gly535Arg) c.1456G>C (p.Gly486Arg) | |
| X | g.129569397G>T | CA414616591 | OCRL | c.*1892G>T (n.*1892G>T) c.1717G>T c.1600G>T (p.Gly534Trp) c.1648G>T c.711G>T c.1251G>T c.1129G>T (p.Gly377Trp) c.1603G>T (p.Gly535Trp) c.1456G>T (p.Gly486Trp) | |
| X | g.129569398G>A | CA414616593 | OCRL | c.*1893G>A (n.*1893G>A) c.1718G>A c.1601G>A (p.Gly534Glu) c.1649G>A c.712G>A c.1252G>A c.1130G>A (p.Gly377Glu) c.1604G>A (p.Gly535Glu) c.1457G>A (p.Gly486Glu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.129569398G>C | CA414616594 | OCRL | c.*1893G>C (n.*1893G>C) c.1718G>C c.1601G>C (p.Gly534Ala) c.1649G>C c.712G>C c.1252G>C c.1130G>C (p.Gly377Ala) c.1604G>C (p.Gly535Ala) c.1457G>C (p.Gly486Ala) | |
| X | g.129569398G= | CA2458101741 | OCRL | c.*1893G= (n.*1893G=) c.1718G= c.1601G= (p.Gly534=) c.1649G= c.712G= c.1252G= c.1130G= (p.Gly377=) c.1604G= (p.Gly535=) c.1457G= (p.Gly486=) | |
| X | g.129569398G>T | CA414616595 | OCRL | c.*1893G>T (n.*1893G>T) c.1718G>T c.1601G>T (p.Gly534Val) c.1649G>T c.712G>T c.1252G>T c.1130G>T (p.Gly377Val) c.1604G>T (p.Gly535Val) c.1457G>T (p.Gly486Val) | |
| X | g.129569399G>A | CA10512213 | OCRL | c.*1894G>A (n.*1894G>A) c.1719G>A c.1602G>A (p.Gly534=) c.1650G>A c.713G>A c.1253G>A c.1131G>A (p.Gly377=) c.1605G>A (p.Gly535=) c.1458G>A (p.Gly486=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129569399G>C | CA518545947 | OCRL | c.*1894G>C (n.*1894G>C) c.1719G>C c.1602G>C (p.Gly534=) c.1650G>C c.713G>C c.1253G>C c.1131G>C (p.Gly377=) c.1605G>C (p.Gly535=) c.1458G>C (p.Gly486=) | |
| X | g.129569399G= | CA2458101742 | OCRL | c.*1894G= (n.*1894G=) c.1719G= c.1602G= (p.Gly534=) c.1650G= c.713G= c.1253G= c.1131G= (p.Gly377=) c.1605G= (p.Gly535=) c.1458G= (p.Gly486=) | |
| X | g.129569399G>T | CA335706858 | OCRL | c.*1894G>T (n.*1894G>T) c.1719G>T c.1602G>T (p.Gly534=) c.1650G>T c.713G>T c.1253G>T c.1131G>T (p.Gly377=) c.1605G>T (p.Gly535=) c.1458G>T (p.Gly486=) | dbSNP gnomAD v4 |
| X | g.129569400G>A | CA414616596 | OCRL | c.*1894+1G>A (n.*1894+1G>A) c.1719+1G>A c.1602+1G>A (n.1602+1G>A) c.1650+1G>A c.713+1G>A c.1253+1G>A c.1131+1G>A (n.1131+1G>A) c.1605+1G>A (n.1605+1G>A) c.1458+1G>A (n.1458+1G>A) | |
| X | g.129569400G>C | CA414616597 | OCRL | c.*1894+1G>C (n.*1894+1G>C) c.1719+1G>C c.1602+1G>C (n.1602+1G>C) c.1650+1G>C c.713+1G>C c.1253+1G>C c.1131+1G>C (n.1131+1G>C) c.1605+1G>C (n.1605+1G>C) c.1458+1G>C (n.1458+1G>C) | |
| X | g.129569400G>T | CA414616598 | OCRL | c.*1894+1G>T (n.*1894+1G>T) c.1719+1G>T c.1602+1G>T (n.1602+1G>T) c.1650+1G>T c.713+1G>T c.1253+1G>T c.1131+1G>T (n.1131+1G>T) c.1605+1G>T (n.1605+1G>T) c.1458+1G>T (n.1458+1G>T) | ClinVar dbSNP |
| X | g.129569401T>A | CA414616599 | OCRL | c.*1894+2T>A (n.*1894+2T>A) c.1719+2T>A c.1602+2T>A (n.1602+2T>A) c.1650+2T>A c.713+2T>A c.1253+2T>A c.1131+2T>A (n.1131+2T>A) c.1605+2T>A (n.1605+2T>A) c.1458+2T>A (n.1458+2T>A) | |
| X | g.129569401T>C | CA414616600 | OCRL | c.*1894+2T>C (n.*1894+2T>C) c.1719+2T>C c.1602+2T>C (n.1602+2T>C) c.1650+2T>C c.713+2T>C c.1253+2T>C c.1131+2T>C (n.1131+2T>C) c.1605+2T>C (n.1605+2T>C) c.1458+2T>C (n.1458+2T>C) | |
| X | g.129569401T>G | CA414616601 | OCRL | c.*1894+2T>G (n.*1894+2T>G) c.1719+2T>G c.1602+2T>G (n.1602+2T>G) c.1650+2T>G c.713+2T>G c.1253+2T>G c.1131+2T>G (n.1131+2T>G) c.1605+2T>G (n.1605+2T>G) c.1458+2T>G (n.1458+2T>G) | |
| X | g.129569404A= | CA2458101743 | OCRL | c.*1894+5A= (n.*1894+5A=) c.1719+5A= c.1602+5A= (n.1602+5A=) c.1650+5A= c.713+5A= c.1253+5A= c.1131+5A= (n.1131+5A=) c.1605+5A= (n.1605+5A=) c.1458+5A= (n.1458+5A=) | |
| X | g.129569404A>G | CA10512214 | OCRL | c.*1894+5A>G (n.*1894+5A>G) c.1719+5A>G c.1602+5A>G (n.1602+5A>G) c.1650+5A>G c.713+5A>G c.1253+5A>G c.1131+5A>G (n.1131+5A>G) c.1605+5A>G (n.1605+5A>G) c.1458+5A>G (n.1458+5A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129569406A= | CA2458101744 | OCRL | c.*1894+7A= (n.*1894+7A=) c.1719+7A= c.1602+7A= (n.1602+7A=) c.1650+7A= c.713+7A= c.1253+7A= c.1131+7A= (n.1131+7A=) c.1605+7A= (n.1605+7A=) c.1458+7A= (n.1458+7A=) | |
| X | g.129569406A>G | CA10512215 | OCRL | c.*1894+7A>G (n.*1894+7A>G) c.1719+7A>G c.1602+7A>G (n.1602+7A>G) c.1650+7A>G c.713+7A>G c.1253+7A>G c.1131+7A>G (n.1131+7A>G) c.1605+7A>G (n.1605+7A>G) c.1458+7A>G (n.1458+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129569407C= | CA2458101745 | OCRL | c.*1894+8C= (n.*1894+8C=) c.1719+8C= c.1602+8C= (n.1602+8C=) c.1650+8C= c.713+8C= c.1253+8C= c.1131+8C= (n.1131+8C=) c.1605+8C= (n.1605+8C=) c.1458+8C= (n.1458+8C=) | |
| X | g.129569408T>C | CA2531533143 | OCRL | c.*1894+9T>C (n.*1894+9T>C) c.1719+9T>C c.1602+9T>C (n.1602+9T>C) c.1650+9T>C c.713+9T>C c.1253+9T>C c.1131+9T>C (n.1131+9T>C) c.1605+9T>C (n.1605+9T>C) c.1458+9T>C (n.1458+9T>C) | |
| X | g.129569412_129569415dup | CA871424290 | OCRL | c.*1894+13_*1894+16dup (n.*1894+13_*1894+16dup) c.1719+13_1719+16dup c.1602+13_1602+16dup (n.1602+13_1602+16dup) c.1650+13_1650+16dup c.713+13_713+16dup c.1253+13_1253+16dup c.1131+13_1131+16dup (n.1131+13_1131+16dup) c.1605+13_1605+16dup (n.1605+13_1605+16dup) c.1458+13_1458+16dup (n.1458+13_1458+16dup) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.129569409T>G | CA2823521201 | OCRL | c.*1894+10T>G (n.*1894+10T>G) c.1719+10T>G c.1602+10T>G (n.1602+10T>G) c.1650+10T>G c.713+10T>G c.1253+10T>G c.1131+10T>G (n.1131+10T>G) c.1605+10T>G (n.1605+10T>G) c.1458+10T>G (n.1458+10T>G) | |
| X | g.129569410G>A | CA10512216 | OCRL | c.*1894+11G>A (n.*1894+11G>A) c.1719+11G>A c.1602+11G>A (n.1602+11G>A) c.1650+11G>A c.713+11G>A c.1253+11G>A c.1131+11G>A (n.1131+11G>A) c.1605+11G>A (n.1605+11G>A) c.1458+11G>A (n.1458+11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129569410G= | CA2458101746 | OCRL | c.*1894+11G= (n.*1894+11G=) c.1719+11G= c.1602+11G= (n.1602+11G=) c.1650+11G= c.713+11G= c.1253+11G= c.1131+11G= (n.1131+11G=) c.1605+11G= (n.1605+11G=) c.1458+11G= (n.1458+11G=) | |
| X | g.129569411T>C | CA871424297 | OCRL | c.*1894+12T>C (n.*1894+12T>C) c.1719+12T>C c.1602+12T>C (n.1602+12T>C) c.1650+12T>C c.713+12T>C c.1253+12T>C c.1131+12T>C (n.1131+12T>C) c.1605+12T>C (n.1605+12T>C) c.1458+12T>C (n.1458+12T>C) | dbSNP gnomAD v4 |
| X | g.129569411T= | CA2458101747 | OCRL | c.*1894+12T= (n.*1894+12T=) c.1719+12T= c.1602+12T= (n.1602+12T=) c.1650+12T= c.713+12T= c.1253+12T= c.1131+12T= (n.1131+12T=) c.1605+12T= (n.1605+12T=) c.1458+12T= (n.1458+12T=) | |
| X | g.129569413T>C | CA2694654592 | OCRL | c.*1894+14T>C (n.*1894+14T>C) c.1719+14T>C c.1602+14T>C (n.1602+14T>C) c.1650+14T>C c.713+14T>C c.1253+14T>C c.1131+14T>C (n.1131+14T>C) c.1605+14T>C (n.1605+14T>C) c.1458+14T>C (n.1458+14T>C) | gnomAD v4 |
| X | g.129569413T>G | CA2694654594 | OCRL | c.*1894+14T>G (n.*1894+14T>G) c.1719+14T>G c.1602+14T>G (n.1602+14T>G) c.1650+14T>G c.713+14T>G c.1253+14T>G c.1131+14T>G (n.1131+14T>G) c.1605+14T>G (n.1605+14T>G) c.1458+14T>G (n.1458+14T>G) | gnomAD v4 |
| X | g.129569414G>A | CA2579698000 | OCRL | c.*1894+15G>A (n.*1894+15G>A) c.1719+15G>A c.1602+15G>A (n.1602+15G>A) c.1650+15G>A c.713+15G>A c.1253+15G>A c.1131+15G>A (n.1131+15G>A) c.1605+15G>A (n.1605+15G>A) c.1458+15G>A (n.1458+15G>A) | |
| X | g.129569414G= | CA2458101748 | OCRL | c.*1894+15G= (n.*1894+15G=) c.1719+15G= c.1602+15G= (n.1602+15G=) c.1650+15G= c.713+15G= c.1253+15G= c.1131+15G= (n.1131+15G=) c.1605+15G= (n.1605+15G=) c.1458+15G= (n.1458+15G=) | |
| X | g.129569414G>T | CA335706859 | OCRL | c.*1894+15G>T (n.*1894+15G>T) c.1719+15G>T c.1602+15G>T (n.1602+15G>T) c.1650+15G>T c.713+15G>T c.1253+15G>T c.1131+15G>T (n.1131+15G>T) c.1605+15G>T (n.1605+15G>T) c.1458+15G>T (n.1458+15G>T) | ClinVar dbSNP |
| X | g.129569415T>C | CA1137275163 | OCRL | c.*1894+16T>C (n.*1894+16T>C) c.1719+16T>C c.1602+16T>C (n.1602+16T>C) c.1650+16T>C c.713+16T>C c.1253+16T>C c.1131+16T>C (n.1131+16T>C) c.1605+16T>C (n.1605+16T>C) c.1458+16T>C (n.1458+16T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.129569415T= | CA2458101749 | OCRL | c.*1894+16T= (n.*1894+16T=) c.1719+16T= c.1602+16T= (n.1602+16T=) c.1650+16T= c.713+16T= c.1253+16T= c.1131+16T= (n.1131+16T=) c.1605+16T= (n.1605+16T=) c.1458+16T= (n.1458+16T=) | |
| X | g.129569416A>G | CA2694654595 | OCRL | c.*1894+17A>G (n.*1894+17A>G) c.1719+17A>G c.1602+17A>G (n.1602+17A>G) c.1650+17A>G c.713+17A>G c.1253+17A>G c.1131+17A>G (n.1131+17A>G) c.1605+17A>G (n.1605+17A>G) c.1458+17A>G (n.1458+17A>G) | gnomAD v4 |
| X | g.129569416A>T | CA2573159319 | OCRL | c.*1894+17A>T (n.*1894+17A>T) c.1719+17A>T c.1602+17A>T (n.1602+17A>T) c.1650+17A>T c.713+17A>T c.1253+17A>T c.1131+17A>T (n.1131+17A>T) c.1605+17A>T (n.1605+17A>T) c.1458+17A>T (n.1458+17A>T) | ClinVar dbSNP |
| X | g.129569421C>A | CA2694654596 | OCRL | c.*1894+22C>A (n.*1894+22C>A) c.1719+22C>A c.1602+22C>A (n.1602+22C>A) c.1650+22C>A c.713+22C>A c.1253+22C>A c.1131+22C>A (n.1131+22C>A) c.1605+22C>A (n.1605+22C>A) c.1458+22C>A (n.1458+22C>A) | gnomAD v4 |
| X | g.129569421C= | CA2458101750 | OCRL | c.*1894+22C= (n.*1894+22C=) c.1719+22C= c.1602+22C= (n.1602+22C=) c.1650+22C= c.713+22C= c.1253+22C= c.1131+22C= (n.1131+22C=) c.1605+22C= (n.1605+22C=) c.1458+22C= (n.1458+22C=) | |
| X | g.129569421C>T | CA644431076 | OCRL | c.*1894+22C>T (n.*1894+22C>T) c.1719+22C>T c.1602+22C>T (n.1602+22C>T) c.1650+22C>T c.713+22C>T c.1253+22C>T c.1131+22C>T (n.1131+22C>T) c.1605+22C>T (n.1605+22C>T) c.1458+22C>T (n.1458+22C>T) | dbSNP gnomAD v2 |
| X | g.129569423T>A | CA2694654597 | OCRL | c.*1894+24T>A (n.*1894+24T>A) c.1719+24T>A c.1602+24T>A (n.1602+24T>A) c.1650+24T>A c.713+24T>A c.1253+24T>A c.1131+24T>A (n.1131+24T>A) c.1605+24T>A (n.1605+24T>A) c.1458+24T>A (n.1458+24T>A) | gnomAD v4 |
| X | g.129569424T>A | CA2579698001 | OCRL | c.*1894+25T>A (n.*1894+25T>A) c.1719+25T>A c.1602+25T>A (n.1602+25T>A) c.1650+25T>A c.713+25T>A c.1253+25T>A c.1131+25T>A (n.1131+25T>A) c.1605+25T>A (n.1605+25T>A) c.1458+25T>A (n.1458+25T>A) | |
| X | g.129569425T>C | CA2458101752 | OCRL | c.*1894+26T>C (n.*1894+26T>C) c.1719+26T>C c.1602+26T>C (n.1602+26T>C) c.1650+26T>C c.713+26T>C c.1253+26T>C c.1131+26T>C (n.1131+26T>C) c.1605+26T>C (n.1605+26T>C) c.1458+26T>C (n.1458+26T>C) | dbSNP |
| X | g.129569425T= | CA2458101751 | OCRL | c.*1894+26T= (n.*1894+26T=) c.1719+26T= c.1602+26T= (n.1602+26T=) c.1650+26T= c.713+26T= c.1253+26T= c.1131+26T= (n.1131+26T=) c.1605+26T= (n.1605+26T=) c.1458+26T= (n.1458+26T=) | |
| X | g.129569426A>G | CA2694654598 | OCRL | c.*1894+27A>G (n.*1894+27A>G) c.1719+27A>G c.1602+27A>G (n.1602+27A>G) c.1650+27A>G c.713+27A>G c.1253+27A>G c.1131+27A>G (n.1131+27A>G) c.1605+27A>G (n.1605+27A>G) c.1458+27A>G (n.1458+27A>G) | gnomAD v4 |
| X | g.129569426A>T | CA2694654599 | OCRL | c.*1894+27A>T (n.*1894+27A>T) c.1719+27A>T c.1602+27A>T (n.1602+27A>T) c.1650+27A>T c.713+27A>T c.1253+27A>T c.1131+27A>T (n.1131+27A>T) c.1605+27A>T (n.1605+27A>T) c.1458+27A>T (n.1458+27A>T) | gnomAD v4 |
| X | g.129569428T>A | CA2694654600 | OCRL | c.*1894+29T>A (n.*1894+29T>A) c.1719+29T>A c.1602+29T>A (n.1602+29T>A) c.1650+29T>A c.713+29T>A c.1253+29T>A c.1131+29T>A (n.1131+29T>A) c.1605+29T>A (n.1605+29T>A) c.1458+29T>A (n.1458+29T>A) | gnomAD v4 |
| X | g.129569428T>C | CA2579698002 | OCRL | c.*1894+29T>C (n.*1894+29T>C) c.1719+29T>C c.1602+29T>C (n.1602+29T>C) c.1650+29T>C c.713+29T>C c.1253+29T>C c.1131+29T>C (n.1131+29T>C) c.1605+29T>C (n.1605+29T>C) c.1458+29T>C (n.1458+29T>C) | |
| X | g.129569430G>C | CA2579698003 | OCRL | c.*1894+31G>C (n.*1894+31G>C) c.1719+31G>C c.1602+31G>C (n.1602+31G>C) c.1650+31G>C c.713+31G>C c.1253+31G>C c.1131+31G>C (n.1131+31G>C) c.1605+31G>C (n.1605+31G>C) c.1458+31G>C (n.1458+31G>C) | |
| X | g.129569431T>C | CA2579698004 | OCRL | c.*1894+32T>C (n.*1894+32T>C) c.1719+32T>C c.1602+32T>C (n.1602+32T>C) c.1650+32T>C c.713+32T>C c.1253+32T>C c.1131+32T>C (n.1131+32T>C) c.1605+32T>C (n.1605+32T>C) c.1458+32T>C (n.1458+32T>C) | |
| X | g.129569433T>C | CA2694654601 | OCRL | c.*1894+34T>C (n.*1894+34T>C) c.1719+34T>C c.1602+34T>C (n.1602+34T>C) c.1650+34T>C c.713+34T>C c.1253+34T>C c.1131+34T>C (n.1131+34T>C) c.1605+34T>C (n.1605+34T>C) c.1458+34T>C (n.1458+34T>C) | gnomAD v4 |
| X | g.129569434G>A | CA2694654602 | OCRL | c.*1894+35G>A (n.*1894+35G>A) c.1719+35G>A c.1602+35G>A (n.1602+35G>A) c.1650+35G>A c.713+35G>A c.1253+35G>A c.1131+35G>A (n.1131+35G>A) c.1605+35G>A (n.1605+35G>A) c.1458+35G>A (n.1458+35G>A) | gnomAD v4 |
| X | g.129569436T>A | CA2694654603 | OCRL | c.*1894+37T>A (n.*1894+37T>A) c.1719+37T>A c.1602+37T>A (n.1602+37T>A) c.1650+37T>A c.713+37T>A c.1253+37T>A c.1131+37T>A (n.1131+37T>A) c.1605+37T>A (n.1605+37T>A) c.1458+37T>A (n.1458+37T>A) | gnomAD v4 |
| X | g.129569436T>G | CA871424300 | OCRL | c.*1894+37T>G (n.*1894+37T>G) c.1719+37T>G c.1602+37T>G (n.1602+37T>G) c.1650+37T>G c.713+37T>G c.1253+37T>G c.1131+37T>G (n.1131+37T>G) c.1605+37T>G (n.1605+37T>G) c.1458+37T>G (n.1458+37T>G) | dbSNP gnomAD v4 |
| X | g.129569436T= | CA2458101753 | OCRL | c.*1894+37T= (n.*1894+37T=) c.1719+37T= c.1602+37T= (n.1602+37T=) c.1650+37T= c.713+37T= c.1253+37T= c.1131+37T= (n.1131+37T=) c.1605+37T= (n.1605+37T=) c.1458+37T= (n.1458+37T=) | |
| X | g.129569437A= | CA2458101754 | OCRL | c.*1894+38A= (n.*1894+38A=) c.1719+38A= c.1602+38A= (n.1602+38A=) c.1650+38A= c.713+38A= c.1253+38A= c.1131+38A= (n.1131+38A=) c.1605+38A= (n.1605+38A=) c.1458+38A= (n.1458+38A=) | |
| X | g.129569437A>G | CA10512217 | OCRL | c.*1894+38A>G (n.*1894+38A>G) c.1719+38A>G c.1602+38A>G (n.1602+38A>G) c.1650+38A>G c.713+38A>G c.1253+38A>G c.1131+38A>G (n.1131+38A>G) c.1605+38A>G (n.1605+38A>G) c.1458+38A>G (n.1458+38A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.129569439G>C | CA10512218 | OCRL | c.*1894+40G>C (n.*1894+40G>C) c.1719+40G>C c.1602+40G>C (n.1602+40G>C) c.1650+40G>C c.713+40G>C c.1253+40G>C c.1131+40G>C (n.1131+40G>C) c.1605+40G>C (n.1605+40G>C) c.1458+40G>C (n.1458+40G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129569439G= | CA2458101755 | OCRL | c.*1894+40G= (n.*1894+40G=) c.1719+40G= c.1602+40G= (n.1602+40G=) c.1650+40G= c.713+40G= c.1253+40G= c.1131+40G= (n.1131+40G=) c.1605+40G= (n.1605+40G=) c.1458+40G= (n.1458+40G=) | |
| X | g.129569440T>A | CA2694654609 | OCRL | c.*1894+41T>A (n.*1894+41T>A) c.1719+41T>A c.1602+41T>A (n.1602+41T>A) c.1650+41T>A c.713+41T>A c.1253+41T>A c.1131+41T>A (n.1131+41T>A) c.1605+41T>A (n.1605+41T>A) c.1458+41T>A (n.1458+41T>A) | gnomAD v4 |
| X | g.129569440T>C | CA10512219 | OCRL | c.*1894+41T>C (n.*1894+41T>C) c.1719+41T>C c.1602+41T>C (n.1602+41T>C) c.1650+41T>C c.713+41T>C c.1253+41T>C c.1131+41T>C (n.1131+41T>C) c.1605+41T>C (n.1605+41T>C) c.1458+41T>C (n.1458+41T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.129569440T>G | CA871424302 | OCRL | c.*1894+41T>G (n.*1894+41T>G) c.1719+41T>G c.1602+41T>G (n.1602+41T>G) c.1650+41T>G c.713+41T>G c.1253+41T>G c.1131+41T>G (n.1131+41T>G) c.1605+41T>G (n.1605+41T>G) c.1458+41T>G (n.1458+41T>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.129569440T= | CA2458101756 | OCRL | c.*1894+41T= (n.*1894+41T=) c.1719+41T= c.1602+41T= (n.1602+41T=) c.1650+41T= c.713+41T= c.1253+41T= c.1131+41T= (n.1131+41T=) c.1605+41T= (n.1605+41T=) c.1458+41T= (n.1458+41T=) | |
| X | g.129569442T>C | CA2694654613 | OCRL | c.*1894+43T>C (n.*1894+43T>C) c.1719+43T>C c.1602+43T>C (n.1602+43T>C) c.1650+43T>C c.713+43T>C c.1253+43T>C c.1131+43T>C (n.1131+43T>C) c.1605+43T>C (n.1605+43T>C) c.1458+43T>C (n.1458+43T>C) | gnomAD v4 |
| X | g.129569442T>G | CA335706860 | OCRL | c.*1894+43T>G (n.*1894+43T>G) c.1719+43T>G c.1602+43T>G (n.1602+43T>G) c.1650+43T>G c.713+43T>G c.1253+43T>G c.1131+43T>G (n.1131+43T>G) c.1605+43T>G (n.1605+43T>G) c.1458+43T>G (n.1458+43T>G) | dbSNP |
| X | g.129569442T= | CA2458101757 | OCRL | c.*1894+43T= (n.*1894+43T=) c.1719+43T= c.1602+43T= (n.1602+43T=) c.1650+43T= c.713+43T= c.1253+43T= c.1131+43T= (n.1131+43T=) c.1605+43T= (n.1605+43T=) c.1458+43T= (n.1458+43T=) | |
| X | g.129569443C>A | CA2694654615 | OCRL | c.*1894+44C>A (n.*1894+44C>A) c.1719+44C>A c.1602+44C>A (n.1602+44C>A) c.1650+44C>A c.713+44C>A c.1253+44C>A c.1131+44C>A (n.1131+44C>A) c.1605+44C>A (n.1605+44C>A) c.1458+44C>A (n.1458+44C>A) | gnomAD v4 |
| X | g.129569443C>G | CA2694654616 | OCRL | c.*1894+44C>G (n.*1894+44C>G) c.1719+44C>G c.1602+44C>G (n.1602+44C>G) c.1650+44C>G c.713+44C>G c.1253+44C>G c.1131+44C>G (n.1131+44C>G) c.1605+44C>G (n.1605+44C>G) c.1458+44C>G (n.1458+44C>G) | gnomAD v4 |
| X | g.129569444A>G | CA2694654617 | OCRL | c.*1894+45A>G (n.*1894+45A>G) c.1719+45A>G c.1602+45A>G (n.1602+45A>G) c.1650+45A>G c.713+45A>G c.1253+45A>G c.1131+45A>G (n.1131+45A>G) c.1605+45A>G (n.1605+45A>G) c.1458+45A>G (n.1458+45A>G) | gnomAD v4 |
| X | g.129569445A>T | CA2694654618 | OCRL | c.*1894+46A>T (n.*1894+46A>T) c.1719+46A>T c.1602+46A>T (n.1602+46A>T) c.1650+46A>T c.713+46A>T c.1253+46A>T c.1131+46A>T (n.1131+46A>T) c.1605+46A>T (n.1605+46A>T) c.1458+46A>T (n.1458+46A>T) | gnomAD v4 |
| X | g.129569448A= | CA2458101758 | OCRL | c.*1894+49A= (n.*1894+49A=) c.1719+49A= c.1602+49A= (n.1602+49A=) c.1650+49A= c.713+49A= c.1253+49A= c.1131+49A= (n.1131+49A=) c.1605+49A= (n.1605+49A=) c.1458+49A= (n.1458+49A=) | |
| X | g.129569448A>G | CA10512220 | OCRL | c.*1894+49A>G (n.*1894+49A>G) c.1719+49A>G c.1602+49A>G (n.1602+49A>G) c.1650+49A>G c.713+49A>G c.1253+49A>G c.1131+49A>G (n.1131+49A>G) c.1605+49A>G (n.1605+49A>G) c.1458+49A>G (n.1458+49A>G) | dbSNP ExAC gnomAD v4 |
| X | g.129569449C>A | CA2694654619 | OCRL | c.*1894+50C>A (n.*1894+50C>A) c.1719+50C>A c.1602+50C>A (n.1602+50C>A) c.1650+50C>A c.713+50C>A c.1253+50C>A c.1131+50C>A (n.1131+50C>A) c.1605+50C>A (n.1605+50C>A) c.1458+50C>A (n.1458+50C>A) | gnomAD v4 |
| X | g.129569449C>G | CA2738971118 | OCRL | c.*1894+50C>G (n.*1894+50C>G) c.1719+50C>G c.1602+50C>G (n.1602+50C>G) c.1650+50C>G c.713+50C>G c.1253+50C>G c.1131+50C>G (n.1131+50C>G) c.1605+50C>G (n.1605+50C>G) c.1458+50C>G (n.1458+50C>G) | dbSNP |
| X | g.129569453A= | CA2458101759 | OCRL | c.*1894+54A= (n.*1894+54A=) c.1719+54A= c.1602+54A= (n.1602+54A=) c.1650+54A= c.713+54A= c.1253+54A= c.1131+54A= (n.1131+54A=) c.1605+54A= (n.1605+54A=) c.1458+54A= (n.1458+54A=) | |
| X | g.129569453A>G | CA644431080 | OCRL | c.*1894+54A>G (n.*1894+54A>G) c.1719+54A>G c.1602+54A>G (n.1602+54A>G) c.1650+54A>G c.713+54A>G c.1253+54A>G c.1131+54A>G (n.1131+54A>G) c.1605+54A>G (n.1605+54A>G) c.1458+54A>G (n.1458+54A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129569454G>A | CA2694654620 | OCRL | c.*1894+55G>A (n.*1894+55G>A) c.1719+55G>A c.1602+55G>A (n.1602+55G>A) c.1650+55G>A c.713+55G>A c.1253+55G>A c.1131+55G>A (n.1131+55G>A) c.1605+55G>A (n.1605+55G>A) c.1458+55G>A (n.1458+55G>A) | gnomAD v4 |
| X | g.129569455G>A | CA871424314 | OCRL | c.*1894+56G>A (n.*1894+56G>A) c.1719+56G>A c.1602+56G>A (n.1602+56G>A) c.1650+56G>A c.713+56G>A c.1253+56G>A c.1131+56G>A (n.1131+56G>A) c.1605+56G>A (n.1605+56G>A) c.1458+56G>A (n.1458+56G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.129569455G= | CA2458101760 | OCRL | c.*1894+56G= (n.*1894+56G=) c.1719+56G= c.1602+56G= (n.1602+56G=) c.1650+56G= c.713+56G= c.1253+56G= c.1131+56G= (n.1131+56G=) c.1605+56G= (n.1605+56G=) c.1458+56G= (n.1458+56G=) | |
| X | g.129569455G>T | CA2458101761 | OCRL | c.*1894+56G>T (n.*1894+56G>T) c.1719+56G>T c.1602+56G>T (n.1602+56G>T) c.1650+56G>T c.713+56G>T c.1253+56G>T c.1131+56G>T (n.1131+56G>T) c.1605+56G>T (n.1605+56G>T) c.1458+56G>T (n.1458+56G>T) | dbSNP gnomAD v4 |
| X | g.129569457T>C | CA2458101763 | OCRL | c.*1894+58T>C (n.*1894+58T>C) c.1719+58T>C c.1602+58T>C (n.1602+58T>C) c.1650+58T>C c.713+58T>C c.1253+58T>C c.1131+58T>C (n.1131+58T>C) c.1605+58T>C (n.1605+58T>C) c.1458+58T>C (n.1458+58T>C) | dbSNP |
| X | g.129569457T= | CA2458101762 | OCRL | c.*1894+58T= (n.*1894+58T=) c.1719+58T= c.1602+58T= (n.1602+58T=) c.1650+58T= c.713+58T= c.1253+58T= c.1131+58T= (n.1131+58T=) c.1605+58T= (n.1605+58T=) c.1458+58T= (n.1458+58T=) | |
| X | g.129569459A>C | CA1137275182 | OCRL | c.*1894+60A>C (n.*1894+60A>C) c.1719+60A>C c.1602+60A>C (n.1602+60A>C) c.1650+60A>C c.713+60A>C c.1253+60A>C c.1131+60A>C (n.1131+60A>C) c.1605+60A>C (n.1605+60A>C) c.1458+60A>C (n.1458+60A>C) | gnomAD v3 gnomAD v4 |
| X | g.129569459A>G | CA2823521202 | OCRL | c.*1894+60A>G (n.*1894+60A>G) c.1719+60A>G c.1602+60A>G (n.1602+60A>G) c.1650+60A>G c.713+60A>G c.1253+60A>G c.1131+60A>G (n.1131+60A>G) c.1605+60A>G (n.1605+60A>G) c.1458+60A>G (n.1458+60A>G) | |
| X | g.129569462del | CA2579698005 | OCRL | c.*1894+63del (n.*1894+63del) c.1719+63del c.1602+63del (n.1602+63del) c.1650+63del c.713+63del c.1253+63del c.1131+63del (n.1131+63del) c.1605+63del (n.1605+63del) c.1458+63del (n.1458+63del) | |
| X | g.129569466C>A | CA2579698006 | OCRL | c.*1894+67C>A (n.*1894+67C>A) c.1719+67C>A c.1602+67C>A (n.1602+67C>A) c.1650+67C>A c.713+67C>A c.1253+67C>A c.1131+67C>A (n.1131+67C>A) c.1605+67C>A (n.1605+67C>A) c.1458+67C>A (n.1458+67C>A) | gnomAD v4 |
| X | g.129569466C= | CA2458101764 | OCRL | c.*1894+67C= (n.*1894+67C=) c.1719+67C= c.1602+67C= (n.1602+67C=) c.1650+67C= c.713+67C= c.1253+67C= c.1131+67C= (n.1131+67C=) c.1605+67C= (n.1605+67C=) c.1458+67C= (n.1458+67C=) | |
| X | g.129569466C>T | CA2458101765 | OCRL | c.*1894+67C>T (n.*1894+67C>T) c.1719+67C>T c.1602+67C>T (n.1602+67C>T) c.1650+67C>T c.713+67C>T c.1253+67C>T c.1131+67C>T (n.1131+67C>T) c.1605+67C>T (n.1605+67C>T) c.1458+67C>T (n.1458+67C>T) | dbSNP gnomAD v4 |
| X | g.129569467_129569472delinsTCAGAA | CA2458101766 | OCRL | c.*1894+68_*1894+73delinsTCAGAA (n.*1894+68_*1894+73delinsTCAGAA) c.1719+68_1719+73delinsTCAGAA c.1602+68_1602+73delinsTCAGAA (n.1602+68_1602+73delinsTCAGAA) c.1650+68_1650+73delinsTCAGAA c.713+68_713+73delinsTCAGAA c.1253+68_1253+73delinsTCAGAA c.1131+68_1131+73delinsTCAGAA (n.1131+68_1131+73delinsTCAGAA) c.1605+68_1605+73delinsTCAGAA (n.1605+68_1605+73delinsTCAGAA) c.1458+68_1458+73delinsTCAGAA (n.1458+68_1458+73delinsTCAGAA) |