| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.136329947G>A | CA2632236 | PCCB | c.1541G>A (p.Arg514Gln) c.1472G>A (p.Arg491Gln) c.1601G>A (p.Arg534Gln) c.1634G>A (p.Arg545Gln) n.1742G>A c.885-4333G>A (n.885-4333G>A) c.1193G>A (p.Arg398Gln) c.1484G>A (p.Arg495Gln) c.*222G>A (n.*222G>A) c.1370G>A (p.Arg457Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.136329947G>C | CA354650054 | PCCB | c.1541G>C (p.Arg514Pro) c.1472G>C (p.Arg491Pro) c.1601G>C (p.Arg534Pro) c.1634G>C (p.Arg545Pro) n.1742G>C c.885-4333G>C (n.885-4333G>C) c.1193G>C (p.Arg398Pro) c.1484G>C (p.Arg495Pro) c.*222G>C (n.*222G>C) c.1370G>C (p.Arg457Pro) | |
| 3 | g.136329947G= | CA1404305045 | PCCB | c.1541G= (p.Arg514=) c.1472G= (p.Arg491=) c.1601G= (p.Arg534=) c.1634G= (p.Arg545=) n.1742G= c.885-4333G= (n.885-4333G=) c.1193G= (p.Arg398=) c.1484G= (p.Arg495=) c.*222G= (n.*222G=) c.1370G= (p.Arg457=) | |
| 3 | g.136329947G>T | CA354650056 | PCCB | c.1541G>T (p.Arg514Leu) c.1472G>T (p.Arg491Leu) c.1601G>T (p.Arg534Leu) c.1634G>T (p.Arg545Leu) n.1742G>T c.885-4333G>T (n.885-4333G>T) c.1193G>T (p.Arg398Leu) c.1484G>T (p.Arg495Leu) c.*222G>T (n.*222G>T) c.1370G>T (p.Arg457Leu) | gnomAD v4 |
| 3 | g.136329948A= | CA1404305046 | PCCB | c.1542A= (p.Arg514=) c.1473A= (p.Arg491=) c.1602A= (p.Arg534=) c.1635A= (p.Arg545=) n.1743A= c.885-4332A= (n.885-4332A=) c.1194A= (p.Arg398=) c.1485A= (p.Arg495=) c.*223A= (n.*223A=) c.1371A= (p.Arg457=) | |
| 3 | g.136329948A>C | CA435841849 | PCCB | c.1542A>C (p.Arg514=) c.1473A>C (p.Arg491=) c.1602A>C (p.Arg534=) c.1635A>C (p.Arg545=) n.1743A>C c.885-4332A>C (n.885-4332A>C) c.1194A>C (p.Arg398=) c.1485A>C (p.Arg495=) c.*223A>C (n.*223A>C) c.1371A>C (p.Arg457=) | ClinVar dbSNP |
| 3 | g.136329948A>G | CA435841850 | PCCB | c.1542A>G (p.Arg514=) c.1473A>G (p.Arg491=) c.1602A>G (p.Arg534=) c.1635A>G (p.Arg545=) n.1743A>G c.885-4332A>G (n.885-4332A>G) c.1194A>G (p.Arg398=) c.1485A>G (p.Arg495=) c.*223A>G (n.*223A>G) c.1371A>G (p.Arg457=) | |
| 3 | g.136329948A>T | CA435841851 | PCCB | c.1542A>T (p.Arg514=) c.1473A>T (p.Arg491=) c.1602A>T (p.Arg534=) c.1635A>T (p.Arg545=) n.1743A>T c.885-4332A>T (n.885-4332A>T) c.1194A>T (p.Arg398=) c.1485A>T (p.Arg495=) c.*223A>T (n.*223A>T) c.1371A>T (p.Arg457=) | dbSNP |
| 3 | g.136329949A>C | CA354650062 | PCCB | c.1543A>C (p.Ile515Leu) c.1474A>C (p.Ile492Leu) c.1603A>C (p.Ile535Leu) c.1636A>C (p.Ile546Leu) n.1744A>C c.885-4331A>C (n.885-4331A>C) c.1195A>C (p.Ile399Leu) c.1486A>C (p.Ile496Leu) c.*224A>C (n.*224A>C) c.1372A>C (p.Ile458Leu) | |
| 3 | g.136329949A>G | CA354650060 | PCCB | c.1543A>G (p.Ile515Val) c.1474A>G (p.Ile492Val) c.1603A>G (p.Ile535Val) c.1636A>G (p.Ile546Val) n.1744A>G c.885-4331A>G (n.885-4331A>G) c.1195A>G (p.Ile399Val) c.1486A>G (p.Ile496Val) c.*224A>G (n.*224A>G) c.1372A>G (p.Ile458Val) | gnomAD v4 |
| 3 | g.136329949A>T | CA354650058 | PCCB | c.1543A>T (p.Ile515Phe) c.1474A>T (p.Ile492Phe) c.1603A>T (p.Ile535Phe) c.1636A>T (p.Ile546Phe) n.1744A>T c.885-4331A>T (n.885-4331A>T) c.1195A>T (p.Ile399Phe) c.1486A>T (p.Ile496Phe) c.*224A>T (n.*224A>T) c.1372A>T (p.Ile458Phe) | |
| 3 | g.136329950T>A | CA354650064 | PCCB | c.1544T>A (p.Ile515Asn) c.1475T>A (p.Ile492Asn) c.1604T>A (p.Ile535Asn) c.1637T>A (p.Ile546Asn) n.1745T>A c.885-4330T>A (n.885-4330T>A) c.1196T>A (p.Ile399Asn) c.1487T>A (p.Ile496Asn) c.*225T>A (n.*225T>A) c.1373T>A (p.Ile458Asn) | |
| 3 | g.136329950T>C | CA354650066 | PCCB | c.1544T>C (p.Ile515Thr) c.1475T>C (p.Ile492Thr) c.1604T>C (p.Ile535Thr) c.1637T>C (p.Ile546Thr) n.1745T>C c.885-4330T>C (n.885-4330T>C) c.1196T>C (p.Ile399Thr) c.1487T>C (p.Ile496Thr) c.*225T>C (n.*225T>C) c.1373T>C (p.Ile458Thr) | |
| 3 | g.136329950T>G | CA354650068 | PCCB | c.1544T>G (p.Ile515Ser) c.1475T>G (p.Ile492Ser) c.1604T>G (p.Ile535Ser) c.1637T>G (p.Ile546Ser) n.1745T>G c.885-4330T>G (n.885-4330T>G) c.1196T>G (p.Ile399Ser) c.1487T>G (p.Ile496Ser) c.*225T>G (n.*225T>G) c.1373T>G (p.Ile458Ser) | |
| 3 | g.136329951C>A | CA435841855 | PCCB | c.1545C>A (p.Ile515=) c.1476C>A (p.Ile492=) c.1605C>A (p.Ile535=) c.1638C>A (p.Ile546=) n.1746C>A c.885-4329C>A (n.885-4329C>A) c.1197C>A (p.Ile399=) c.1488C>A (p.Ile496=) c.*226C>A (n.*226C>A) c.1374C>A (p.Ile458=) | gnomAD v4 |
| 3 | g.136329951C>G | CA354650070 | PCCB | c.1545C>G (p.Ile515Met) c.1476C>G (p.Ile492Met) c.1605C>G (p.Ile535Met) c.1638C>G (p.Ile546Met) n.1746C>G c.885-4329C>G (n.885-4329C>G) c.1197C>G (p.Ile399Met) c.1488C>G (p.Ile496Met) c.*226C>G (n.*226C>G) c.1374C>G (p.Ile458Met) | |
| 3 | g.136329951C>T | CA435841856 | PCCB | c.1545C>T (p.Ile515=) c.1476C>T (p.Ile492=) c.1605C>T (p.Ile535=) c.1638C>T (p.Ile546=) n.1746C>T c.885-4329C>T (n.885-4329C>T) c.1197C>T (p.Ile399=) c.1488C>T (p.Ile496=) c.*226C>T (n.*226C>T) c.1374C>T (p.Ile458=) | |
| 3 | g.136329952T>A | CA354650073 | PCCB | c.1546T>A (p.Cys516Ser) c.1477T>A (p.Cys493Ser) c.1606T>A (p.Cys536Ser) c.1639T>A (p.Cys547Ser) n.1747T>A c.885-4328T>A (n.885-4328T>A) c.1198T>A (p.Cys400Ser) c.1489T>A (p.Cys497Ser) c.*227T>A (n.*227T>A) c.1375T>A (p.Cys459Ser) | |
| 3 | g.136329952T>C | CA354650074 | PCCB | c.1546T>C (p.Cys516Arg) c.1477T>C (p.Cys493Arg) c.1606T>C (p.Cys536Arg) c.1639T>C (p.Cys547Arg) n.1747T>C c.885-4328T>C (n.885-4328T>C) c.1198T>C (p.Cys400Arg) c.1489T>C (p.Cys497Arg) c.*227T>C (n.*227T>C) c.1375T>C (p.Cys459Arg) | |
| 3 | g.136329952T>G | CA354650076 | PCCB | c.1546T>G (p.Cys516Gly) c.1477T>G (p.Cys493Gly) c.1606T>G (p.Cys536Gly) c.1639T>G (p.Cys547Gly) n.1747T>G c.885-4328T>G (n.885-4328T>G) c.1198T>G (p.Cys400Gly) c.1489T>G (p.Cys497Gly) c.*227T>G (n.*227T>G) c.1375T>G (p.Cys459Gly) | |
| 3 | g.136329953G>A | CA354650078 | PCCB | c.1547G>A (p.Cys516Tyr) c.1478G>A (p.Cys493Tyr) c.1607G>A (p.Cys536Tyr) c.1640G>A (p.Cys547Tyr) n.1748G>A c.885-4327G>A (n.885-4327G>A) c.1199G>A (p.Cys400Tyr) c.1490G>A (p.Cys497Tyr) c.*228G>A (n.*228G>A) c.1376G>A (p.Cys459Tyr) | |
| 3 | g.136329953G>C | CA354650080 | PCCB | c.1547G>C (p.Cys516Ser) c.1478G>C (p.Cys493Ser) c.1607G>C (p.Cys536Ser) c.1640G>C (p.Cys547Ser) n.1748G>C c.885-4327G>C (n.885-4327G>C) c.1199G>C (p.Cys400Ser) c.1490G>C (p.Cys497Ser) c.*228G>C (n.*228G>C) c.1376G>C (p.Cys459Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.136329953G= | CA1404305047 | PCCB | c.1547G= (p.Cys516=) c.1478G= (p.Cys493=) c.1607G= (p.Cys536=) c.1640G= (p.Cys547=) n.1748G= c.885-4327G= (n.885-4327G=) c.1199G= (p.Cys400=) c.1490G= (p.Cys497=) c.*228G= (n.*228G=) c.1376G= (p.Cys459=) | |
| 3 | g.136329953G>T | CA354650082 | PCCB | c.1547G>T (p.Cys516Phe) c.1478G>T (p.Cys493Phe) c.1607G>T (p.Cys536Phe) c.1640G>T (p.Cys547Phe) n.1748G>T c.885-4327G>T (n.885-4327G>T) c.1199G>T (p.Cys400Phe) c.1490G>T (p.Cys497Phe) c.*228G>T (n.*228G>T) c.1376G>T (p.Cys459Phe) | |
| 3 | g.136329954C>A | CA354650084 | PCCB | c.1548C>A (p.Cys516Ter) c.1479C>A (p.Cys493Ter) c.1608C>A (p.Cys536Ter) c.1641C>A (p.Cys547Ter) n.1749C>A c.885-4326C>A (n.885-4326C>A) c.1200C>A (p.Cys400Ter) c.1491C>A (p.Cys497Ter) c.*229C>A (n.*229C>A) c.1377C>A (p.Cys459Ter) | |
| 3 | g.136329954C= | CA1404305048 | PCCB | c.1548C= (p.Cys516=) c.1479C= (p.Cys493=) c.1608C= (p.Cys536=) c.1641C= (p.Cys547=) n.1749C= c.885-4326C= (n.885-4326C=) c.1200C= (p.Cys400=) c.1491C= (p.Cys497=) c.*229C= (n.*229C=) c.1377C= (p.Cys459=) | |
| 3 | g.136329954C>G | CA354650086 | PCCB | c.1548C>G (p.Cys516Trp) c.1479C>G (p.Cys493Trp) c.1608C>G (p.Cys536Trp) c.1641C>G (p.Cys547Trp) n.1749C>G c.885-4326C>G (n.885-4326C>G) c.1200C>G (p.Cys400Trp) c.1491C>G (p.Cys497Trp) c.*229C>G (n.*229C>G) c.1377C>G (p.Cys459Trp) | |
| 3 | g.136329954C>T | CA435841857 | PCCB | c.1548C>T (p.Cys516=) c.1479C>T (p.Cys493=) c.1608C>T (p.Cys536=) c.1641C>T (p.Cys547=) n.1749C>T c.885-4326C>T (n.885-4326C>T) c.1200C>T (p.Cys400=) c.1491C>T (p.Cys497=) c.*229C>T (n.*229C>T) c.1377C>T (p.Cys459=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.136329955T>A | CA354650092 | PCCB | c.1549T>A (p.Cys517Ser) c.1480T>A (p.Cys494Ser) c.1609T>A (p.Cys537Ser) c.1642T>A (p.Cys548Ser) n.1750T>A c.885-4325T>A (n.885-4325T>A) c.1201T>A (p.Cys401Ser) c.1492T>A (p.Cys498Ser) c.*230T>A (n.*230T>A) c.1378T>A (p.Cys460Ser) | |
| 3 | g.136329955T>C | CA354650090 | PCCB | c.1549T>C (p.Cys517Arg) c.1480T>C (p.Cys494Arg) c.1609T>C (p.Cys537Arg) c.1642T>C (p.Cys548Arg) n.1750T>C c.885-4325T>C (n.885-4325T>C) c.1201T>C (p.Cys401Arg) c.1492T>C (p.Cys498Arg) c.*230T>C (n.*230T>C) c.1378T>C (p.Cys460Arg) | |
| 3 | g.136329955T>G | CA354650089 | PCCB | c.1549T>G (p.Cys517Gly) c.1480T>G (p.Cys494Gly) c.1609T>G (p.Cys537Gly) c.1642T>G (p.Cys548Gly) n.1750T>G c.885-4325T>G (n.885-4325T>G) c.1201T>G (p.Cys401Gly) c.1492T>G (p.Cys498Gly) c.*230T>G (n.*230T>G) c.1378T>G (p.Cys460Gly) | |
| 3 | g.136329956G>A | CA354650095 | PCCB | c.1550G>A (p.Cys517Tyr) c.1481G>A (p.Cys494Tyr) c.1610G>A (p.Cys537Tyr) c.1643G>A (p.Cys548Tyr) n.1751G>A c.885-4324G>A (n.885-4324G>A) c.1202G>A (p.Cys401Tyr) c.1493G>A (p.Cys498Tyr) c.*231G>A (n.*231G>A) c.1379G>A (p.Cys460Tyr) | gnomAD v4 |
| 3 | g.136329956G>C | CA354650097 | PCCB | c.1550G>C (p.Cys517Ser) c.1481G>C (p.Cys494Ser) c.1610G>C (p.Cys537Ser) c.1643G>C (p.Cys548Ser) n.1751G>C c.885-4324G>C (n.885-4324G>C) c.1202G>C (p.Cys401Ser) c.1493G>C (p.Cys498Ser) c.*231G>C (n.*231G>C) c.1379G>C (p.Cys460Ser) | |
| 3 | g.136329956G>T | CA354650098 | PCCB | c.1550G>T (p.Cys517Phe) c.1481G>T (p.Cys494Phe) c.1610G>T (p.Cys537Phe) c.1643G>T (p.Cys548Phe) n.1751G>T c.885-4324G>T (n.885-4324G>T) c.1202G>T (p.Cys401Phe) c.1493G>T (p.Cys498Phe) c.*231G>T (n.*231G>T) c.1379G>T (p.Cys460Phe) | |
| 3 | g.136329957T>A | CA354650100 | PCCB | c.1551T>A (p.Cys517Ter) c.1482T>A (p.Cys494Ter) c.1611T>A (p.Cys537Ter) c.1644T>A (p.Cys548Ter) n.1752T>A c.885-4323T>A (n.885-4323T>A) c.1203T>A (p.Cys401Ter) c.1494T>A (p.Cys498Ter) c.*232T>A (n.*232T>A) c.1380T>A (p.Cys460Ter) | |
| 3 | g.136329957T>C | CA435841862 | PCCB | c.1551T>C (p.Cys517=) c.1482T>C (p.Cys494=) c.1611T>C (p.Cys537=) c.1644T>C (p.Cys548=) n.1752T>C c.885-4323T>C (n.885-4323T>C) c.1203T>C (p.Cys401=) c.1494T>C (p.Cys498=) c.*232T>C (n.*232T>C) c.1380T>C (p.Cys460=) | |
| 3 | g.136329957T>G | CA354650101 | PCCB | c.1551T>G (p.Cys517Trp) c.1482T>G (p.Cys494Trp) c.1611T>G (p.Cys537Trp) c.1644T>G (p.Cys548Trp) n.1752T>G c.885-4323T>G (n.885-4323T>G) c.1203T>G (p.Cys401Trp) c.1494T>G (p.Cys498Trp) c.*232T>G (n.*232T>G) c.1380T>G (p.Cys460Trp) | |
| 3 | g.136329958G>A | CA2632237 | PCCB | c.1552G>A (p.Asp518Asn) c.1483G>A (p.Asp495Asn) c.1612G>A (p.Asp538Asn) c.1645G>A (p.Asp549Asn) n.1753G>A c.885-4322G>A (n.885-4322G>A) c.1204G>A (p.Asp402Asn) c.1495G>A (p.Asp499Asn) c.*233G>A (n.*233G>A) c.1381G>A (p.Asp461Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.136329958G>C | CA354650105 | PCCB | c.1552G>C (p.Asp518His) c.1483G>C (p.Asp495His) c.1612G>C (p.Asp538His) c.1645G>C (p.Asp549His) n.1753G>C c.885-4322G>C (n.885-4322G>C) c.1204G>C (p.Asp402His) c.1495G>C (p.Asp499His) c.*233G>C (n.*233G>C) c.1381G>C (p.Asp461His) | |
| 3 | g.136329958G= | CA1404305049 | PCCB | c.1552G= (p.Asp518=) c.1483G= (p.Asp495=) c.1612G= (p.Asp538=) c.1645G= (p.Asp549=) n.1753G= c.885-4322G= (n.885-4322G=) c.1204G= (p.Asp402=) c.1495G= (p.Asp499=) c.*233G= (n.*233G=) c.1381G= (p.Asp461=) | |
| 3 | g.136329958G>T | CA354650107 | PCCB | c.1552G>T (p.Asp518Tyr) c.1483G>T (p.Asp495Tyr) c.1612G>T (p.Asp538Tyr) c.1645G>T (p.Asp549Tyr) n.1753G>T c.885-4322G>T (n.885-4322G>T) c.1204G>T (p.Asp402Tyr) c.1495G>T (p.Asp499Tyr) c.*233G>T (n.*233G>T) c.1381G>T (p.Asp461Tyr) | |
| 3 | g.136329959A= | CA1404305050 | PCCB | c.1553A= (p.Asp518=) c.1484A= (p.Asp495=) c.1613A= (p.Asp538=) c.1646A= (p.Asp549=) n.1754A= c.885-4321A= (n.885-4321A=) c.1205A= (p.Asp402=) c.1496A= (p.Asp499=) c.*234A= (n.*234A=) c.1382A= (p.Asp461=) | |
| 3 | g.136329959A>C | CA354650109 | PCCB | c.1553A>C (p.Asp518Ala) c.1484A>C (p.Asp495Ala) c.1613A>C (p.Asp538Ala) c.1646A>C (p.Asp549Ala) n.1754A>C c.885-4321A>C (n.885-4321A>C) c.1205A>C (p.Asp402Ala) c.1496A>C (p.Asp499Ala) c.*234A>C (n.*234A>C) c.1382A>C (p.Asp461Ala) | |
| 3 | g.136329959A>G | CA354650111 | PCCB | c.1553A>G (p.Asp518Gly) c.1484A>G (p.Asp495Gly) c.1613A>G (p.Asp538Gly) c.1646A>G (p.Asp549Gly) n.1754A>G c.885-4321A>G (n.885-4321A>G) c.1205A>G (p.Asp402Gly) c.1496A>G (p.Asp499Gly) c.*234A>G (n.*234A>G) c.1382A>G (p.Asp461Gly) | |
| 3 | g.136329959A>T | CA354650113 | PCCB | c.1553A>T (p.Asp518Val) c.1484A>T (p.Asp495Val) c.1613A>T (p.Asp538Val) c.1646A>T (p.Asp549Val) n.1754A>T c.885-4321A>T (n.885-4321A>T) c.1205A>T (p.Asp402Val) c.1496A>T (p.Asp499Val) c.*234A>T (n.*234A>T) c.1382A>T (p.Asp461Val) | |
| 3 | g.136329960C>A | CA354650115 | PCCB | c.1554C>A (p.Asp518Glu) c.1485C>A (p.Asp495Glu) c.1614C>A (p.Asp538Glu) c.1647C>A (p.Asp549Glu) n.1755C>A c.885-4320C>A (n.885-4320C>A) c.1206C>A (p.Asp402Glu) c.1497C>A (p.Asp499Glu) c.*235C>A (n.*235C>A) c.1383C>A (p.Asp461Glu) | dbSNP |
| 3 | g.136329960C= | CA1404305051 | PCCB | c.1554C= (p.Asp518=) c.1485C= (p.Asp495=) c.1614C= (p.Asp538=) c.1647C= (p.Asp549=) n.1755C= c.885-4320C= (n.885-4320C=) c.1206C= (p.Asp402=) c.1497C= (p.Asp499=) c.*235C= (n.*235C=) c.1383C= (p.Asp461=) | |
| 3 | g.136329960C>G | CA354650117 | PCCB | c.1554C>G (p.Asp518Glu) c.1485C>G (p.Asp495Glu) c.1614C>G (p.Asp538Glu) c.1647C>G (p.Asp549Glu) n.1755C>G c.885-4320C>G (n.885-4320C>G) c.1206C>G (p.Asp402Glu) c.1497C>G (p.Asp499Glu) c.*235C>G (n.*235C>G) c.1383C>G (p.Asp461Glu) | |
| 3 | g.136329960C>T | CA435841864 | PCCB | c.1554C>T (p.Asp518=) c.1485C>T (p.Asp495=) c.1614C>T (p.Asp538=) c.1647C>T (p.Asp549=) n.1755C>T c.885-4320C>T (n.885-4320C>T) c.1206C>T (p.Asp402=) c.1497C>T (p.Asp499=) c.*235C>T (n.*235C>T) c.1383C>T (p.Asp461=) | |
| 3 | g.136329961dup | CA913102141 | PCCB | c.1555dup (p.Leu519ProfsTer?) c.1486dup (p.Leu496ProfsTer?) c.1615dup (p.Leu539ProfsTer?) c.1648dup (p.Leu550ProfsTer?) c.1555dup (p.Leu519ProfsTer27) n.1756dup c.885-4319dup (n.885-4319dup) c.1207dup (p.Leu403ProfsTer?) c.1498dup (p.Leu500ProfsTer?) c.*236dup (n.*236dup) c.1384dup (p.Leu462ProfsTer?) |