WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.6471036A= | CA1151526553 | PLEKHG5 | c.1346T= (p.Met449=) c.1520T= (p.Met507=) c.1457T= (p.Met486=) n.1822T= c.1553T= (p.Met518=) c.1643T= (p.Met548=) n.379T= c.*1558T= (n.*1558T=) c.*1174T= (n.*1174T=) c.1577T= (p.Met526=) c.1514T= (p.Met505=) n.548T= c.1583T= (p.Met528=) | |
| 1 | g.6471036A>C | CA338127744 | PLEKHG5 | c.1346T>G (p.Met449Arg) c.1520T>G (p.Met507Arg) c.1457T>G (p.Met486Arg) n.1822T>G c.1553T>G (p.Met518Arg) c.1643T>G (p.Met548Arg) n.379T>G c.*1558T>G (n.*1558T>G) c.*1174T>G (n.*1174T>G) c.1577T>G (p.Met526Arg) c.1514T>G (p.Met505Arg) n.548T>G c.1583T>G (p.Met528Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6471036A>G | CA338127743 | PLEKHG5 | c.1346T>C (p.Met449Thr) c.1520T>C (p.Met507Thr) c.1457T>C (p.Met486Thr) n.1822T>C c.1553T>C (p.Met518Thr) c.1643T>C (p.Met548Thr) n.379T>C c.*1558T>C (n.*1558T>C) c.*1174T>C (n.*1174T>C) c.1577T>C (p.Met526Thr) c.1514T>C (p.Met505Thr) n.548T>C c.1583T>C (p.Met528Thr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.6471036A>T | CA338127742 | PLEKHG5 | c.1346T>A (p.Met449Lys) c.1520T>A (p.Met507Lys) c.1457T>A (p.Met486Lys) n.1822T>A c.1553T>A (p.Met518Lys) c.1643T>A (p.Met548Lys) n.379T>A c.*1558T>A (n.*1558T>A) c.*1174T>A (n.*1174T>A) c.1577T>A (p.Met526Lys) c.1514T>A (p.Met505Lys) n.548T>A c.1583T>A (p.Met528Lys) | gnomAD v4 |
| 1 | g.6471037T>A | CA338127745 | PLEKHG5 | c.1345A>T (p.Met449Leu) c.1519A>T (p.Met507Leu) c.1456A>T (p.Met486Leu) n.1821A>T c.1552A>T (p.Met518Leu) c.1642A>T (p.Met548Leu) n.378A>T c.*1557A>T (n.*1557A>T) c.*1173A>T (n.*1173A>T) c.1576A>T (p.Met526Leu) c.1513A>T (p.Met505Leu) n.547A>T c.1582A>T (p.Met528Leu) | |
| 1 | g.6471037T>C | CA561554 | PLEKHG5 | c.1345A>G (p.Met449Val) c.1519A>G (p.Met507Val) c.1456A>G (p.Met486Val) n.1821A>G c.1552A>G (p.Met518Val) c.1642A>G (p.Met548Val) n.378A>G c.*1557A>G (n.*1557A>G) c.*1173A>G (n.*1173A>G) c.1576A>G (p.Met526Val) c.1513A>G (p.Met505Val) n.547A>G c.1582A>G (p.Met528Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6471037T>G | CA338127751 | PLEKHG5 | c.1345A>C (p.Met449Leu) c.1519A>C (p.Met507Leu) c.1456A>C (p.Met486Leu) n.1821A>C c.1552A>C (p.Met518Leu) c.1642A>C (p.Met548Leu) n.378A>C c.*1557A>C (n.*1557A>C) c.*1173A>C (n.*1173A>C) c.1576A>C (p.Met526Leu) c.1513A>C (p.Met505Leu) n.547A>C c.1582A>C (p.Met528Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6471037T= | CA1151526563 | PLEKHG5 | c.1345A= (p.Met449=) c.1519A= (p.Met507=) c.1456A= (p.Met486=) n.1821A= c.1552A= (p.Met518=) c.1642A= (p.Met548=) n.378A= c.*1557A= (n.*1557A=) c.*1173A= (n.*1173A=) c.1576A= (p.Met526=) c.1513A= (p.Met505=) n.547A= c.1582A= (p.Met528=) | |
| 1 | g.6471038G>A | CA416022968 | PLEKHG5 | c.1344C>T (p.Tyr448=) c.1518C>T (p.Tyr506=) c.1455C>T (p.Tyr485=) n.1820C>T c.1551C>T (p.Tyr517=) c.1641C>T (p.Tyr547=) n.377C>T c.*1556C>T (n.*1556C>T) c.*1172C>T (n.*1172C>T) c.1575C>T (p.Tyr525=) c.1512C>T (p.Tyr504=) n.546C>T c.1581C>T (p.Tyr527=) | ClinVar |
| 1 | g.6471038G>C | CA338127756 | PLEKHG5 | c.1344C>G (p.Tyr448Ter) c.1518C>G (p.Tyr506Ter) c.1455C>G (p.Tyr485Ter) n.1820C>G c.1551C>G (p.Tyr517Ter) c.1641C>G (p.Tyr547Ter) n.377C>G c.*1556C>G (n.*1556C>G) c.*1172C>G (n.*1172C>G) c.1575C>G (p.Tyr525Ter) c.1512C>G (p.Tyr504Ter) n.546C>G c.1581C>G (p.Tyr527Ter) | |
| 1 | g.6471038G>T | CA338127758 | PLEKHG5 | c.1344C>A (p.Tyr448Ter) c.1518C>A (p.Tyr506Ter) c.1455C>A (p.Tyr485Ter) n.1820C>A c.1551C>A (p.Tyr517Ter) c.1641C>A (p.Tyr547Ter) n.377C>A c.*1556C>A (n.*1556C>A) c.*1172C>A (n.*1172C>A) c.1575C>A (p.Tyr525Ter) c.1512C>A (p.Tyr504Ter) n.546C>A c.1581C>A (p.Tyr527Ter) | gnomAD v4 |
| 1 | g.6471039T>A | CA338127762 | PLEKHG5 | c.1343A>T (p.Tyr448Phe) c.1517A>T (p.Tyr506Phe) c.1454A>T (p.Tyr485Phe) n.1819A>T c.1550A>T (p.Tyr517Phe) c.1640A>T (p.Tyr547Phe) n.376A>T c.*1555A>T (n.*1555A>T) c.*1171A>T (n.*1171A>T) c.1574A>T (p.Tyr525Phe) c.1511A>T (p.Tyr504Phe) n.545A>T c.1580A>T (p.Tyr527Phe) | gnomAD v4 |
| 1 | g.6471039T>C | CA338127766 | PLEKHG5 | c.1343A>G (p.Tyr448Cys) c.1517A>G (p.Tyr506Cys) c.1454A>G (p.Tyr485Cys) n.1819A>G c.1550A>G (p.Tyr517Cys) c.1640A>G (p.Tyr547Cys) n.376A>G c.*1555A>G (n.*1555A>G) c.*1171A>G (n.*1171A>G) c.1574A>G (p.Tyr525Cys) c.1511A>G (p.Tyr504Cys) n.545A>G c.1580A>G (p.Tyr527Cys) | |
| 1 | g.6471039T>G | CA338127769 | PLEKHG5 | c.1343A>C (p.Tyr448Ser) c.1517A>C (p.Tyr506Ser) c.1454A>C (p.Tyr485Ser) n.1819A>C c.1550A>C (p.Tyr517Ser) c.1640A>C (p.Tyr547Ser) n.376A>C c.*1555A>C (n.*1555A>C) c.*1171A>C (n.*1171A>C) c.1574A>C (p.Tyr525Ser) c.1511A>C (p.Tyr504Ser) n.545A>C c.1580A>C (p.Tyr527Ser) | |
| 1 | g.6471040A= | CA1151526573 | PLEKHG5 | c.1342T= (p.Tyr448=) c.1516T= (p.Tyr506=) c.1453T= (p.Tyr485=) n.1818T= c.1549T= (p.Tyr517=) c.1639T= (p.Tyr547=) n.375T= c.*1554T= (n.*1554T=) c.*1170T= (n.*1170T=) c.1573T= (p.Tyr525=) c.1510T= (p.Tyr504=) n.544T= c.1579T= (p.Tyr527=) | |
| 1 | g.6471040A>C | CA338127772 | PLEKHG5 | c.1342T>G (p.Tyr448Asp) c.1516T>G (p.Tyr506Asp) c.1453T>G (p.Tyr485Asp) n.1818T>G c.1549T>G (p.Tyr517Asp) c.1639T>G (p.Tyr547Asp) n.375T>G c.*1554T>G (n.*1554T>G) c.*1170T>G (n.*1170T>G) c.1573T>G (p.Tyr525Asp) c.1510T>G (p.Tyr504Asp) n.544T>G c.1579T>G (p.Tyr527Asp) | |
| 1 | g.6471040A>G | CA17237680 | PLEKHG5 | c.1342T>C (p.Tyr448His) c.1516T>C (p.Tyr506His) c.1453T>C (p.Tyr485His) n.1818T>C c.1549T>C (p.Tyr517His) c.1639T>C (p.Tyr547His) n.375T>C c.*1554T>C (n.*1554T>C) c.*1170T>C (n.*1170T>C) c.1573T>C (p.Tyr525His) c.1510T>C (p.Tyr504His) n.544T>C c.1579T>C (p.Tyr527His) | dbSNP gnomAD v2 |
| 1 | g.6471040A>T | CA338127777 | PLEKHG5 | c.1342T>A (p.Tyr448Asn) c.1516T>A (p.Tyr506Asn) c.1453T>A (p.Tyr485Asn) n.1818T>A c.1549T>A (p.Tyr517Asn) c.1639T>A (p.Tyr547Asn) n.375T>A c.*1554T>A (n.*1554T>A) c.*1170T>A (n.*1170T>A) c.1573T>A (p.Tyr525Asn) c.1510T>A (p.Tyr504Asn) n.544T>A c.1579T>A (p.Tyr527Asn) | |
| 1 | g.6471041C>A | CA338127781 | PLEKHG5 | c.1341G>T (p.Glu447Asp) c.1515G>T (p.Glu505Asp) c.1452G>T (p.Glu484Asp) n.1817G>T c.1548G>T (p.Glu516Asp) c.1638G>T (p.Glu546Asp) n.374G>T c.*1553G>T (n.*1553G>T) c.*1169G>T (n.*1169G>T) c.1572G>T (p.Glu524Asp) c.1509G>T (p.Glu503Asp) n.543G>T c.1578G>T (p.Glu526Asp) | gnomAD v4 |
| 1 | g.6471041C>G | CA338127783 | PLEKHG5 | c.1341G>C (p.Glu447Asp) c.1515G>C (p.Glu505Asp) c.1452G>C (p.Glu484Asp) n.1817G>C c.1548G>C (p.Glu516Asp) c.1638G>C (p.Glu546Asp) n.374G>C c.*1553G>C (n.*1553G>C) c.*1169G>C (n.*1169G>C) c.1572G>C (p.Glu524Asp) c.1509G>C (p.Glu503Asp) n.543G>C c.1578G>C (p.Glu526Asp) | gnomAD v4 |
| 1 | g.6471041C>T | CA416022969 | PLEKHG5 | c.1341G>A (p.Glu447=) c.1515G>A (p.Glu505=) c.1452G>A (p.Glu484=) n.1817G>A c.1548G>A (p.Glu516=) c.1638G>A (p.Glu546=) n.374G>A c.*1553G>A (n.*1553G>A) c.*1169G>A (n.*1169G>A) c.1572G>A (p.Glu524=) c.1509G>A (p.Glu503=) n.543G>A c.1578G>A (p.Glu526=) | |
| 1 | g.6471042T>A | CA338127799 | PLEKHG5 | c.1340A>T (p.Glu447Val) c.1514A>T (p.Glu505Val) c.1451A>T (p.Glu484Val) n.1816A>T c.1547A>T (p.Glu516Val) c.1637A>T (p.Glu546Val) n.373A>T c.*1552A>T (n.*1552A>T) c.*1168A>T (n.*1168A>T) c.1571A>T (p.Glu524Val) c.1508A>T (p.Glu503Val) n.542A>T c.1577A>T (p.Glu526Val) | |
| 1 | g.6471042T>C | CA338127801 | PLEKHG5 | c.1340A>G (p.Glu447Gly) c.1514A>G (p.Glu505Gly) c.1451A>G (p.Glu484Gly) n.1816A>G c.1547A>G (p.Glu516Gly) c.1637A>G (p.Glu546Gly) n.373A>G c.*1552A>G (n.*1552A>G) c.*1168A>G (n.*1168A>G) c.1571A>G (p.Glu524Gly) c.1508A>G (p.Glu503Gly) n.542A>G c.1577A>G (p.Glu526Gly) | dbSNP |
| 1 | g.6471042T>G | CA338127785 | PLEKHG5 | c.1340A>C (p.Glu447Ala) c.1514A>C (p.Glu505Ala) c.1451A>C (p.Glu484Ala) n.1816A>C c.1547A>C (p.Glu516Ala) c.1637A>C (p.Glu546Ala) n.373A>C c.*1552A>C (n.*1552A>C) c.*1168A>C (n.*1168A>C) c.1571A>C (p.Glu524Ala) c.1508A>C (p.Glu503Ala) n.542A>C c.1577A>C (p.Glu526Ala) | dbSNP gnomAD v2 |
| 1 | g.6471042T= | CA1151526576 | PLEKHG5 | c.1340A= (p.Glu447=) c.1514A= (p.Glu505=) c.1451A= (p.Glu484=) n.1816A= c.1547A= (p.Glu516=) c.1637A= (p.Glu546=) n.373A= c.*1552A= (n.*1552A=) c.*1168A= (n.*1168A=) c.1571A= (p.Glu524=) c.1508A= (p.Glu503=) n.542A= c.1577A= (p.Glu526=) | |
| 1 | g.6471043C>A | CA338127804 | PLEKHG5 | c.1339G>T (p.Glu447Ter) c.1513G>T (p.Glu505Ter) c.1450G>T (p.Glu484Ter) n.1815G>T c.1546G>T (p.Glu516Ter) c.1636G>T (p.Glu546Ter) n.372G>T c.*1551G>T (n.*1551G>T) c.*1167G>T (n.*1167G>T) c.1570G>T (p.Glu524Ter) c.1507G>T (p.Glu503Ter) n.541G>T c.1576G>T (p.Glu526Ter) | gnomAD v4 |
| 1 | g.6471043C= | CA1151526579 | PLEKHG5 | c.1339G= (p.Glu447=) c.1513G= (p.Glu505=) c.1450G= (p.Glu484=) n.1815G= c.1546G= (p.Glu516=) c.1636G= (p.Glu546=) n.372G= c.*1551G= (n.*1551G=) c.*1167G= (n.*1167G=) c.1570G= (p.Glu524=) c.1507G= (p.Glu503=) n.541G= c.1576G= (p.Glu526=) | |
| 1 | g.6471043C>G | CA338127808 | PLEKHG5 | c.1339G>C (p.Glu447Gln) c.1513G>C (p.Glu505Gln) c.1450G>C (p.Glu484Gln) n.1815G>C c.1546G>C (p.Glu516Gln) c.1636G>C (p.Glu546Gln) n.372G>C c.*1551G>C (n.*1551G>C) c.*1167G>C (n.*1167G>C) c.1570G>C (p.Glu524Gln) c.1507G>C (p.Glu503Gln) n.541G>C c.1576G>C (p.Glu526Gln) | |
| 1 | g.6471043C>T | CA338127813 | PLEKHG5 | c.1339G>A (p.Glu447Lys) c.1513G>A (p.Glu505Lys) c.1450G>A (p.Glu484Lys) n.1815G>A c.1546G>A (p.Glu516Lys) c.1636G>A (p.Glu546Lys) n.372G>A c.*1551G>A (n.*1551G>A) c.*1167G>A (n.*1167G>A) c.1570G>A (p.Glu524Lys) c.1507G>A (p.Glu503Lys) n.541G>A c.1576G>A (p.Glu526Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6471044C>A | CA338127820 | PLEKHG5 | c.1338G>T (p.Met446Ile) c.1512G>T (p.Met504Ile) c.1449G>T (p.Met483Ile) n.1814G>T c.1545G>T (p.Met515Ile) c.1635G>T (p.Met545Ile) n.371G>T c.*1550G>T (n.*1550G>T) c.*1166G>T (n.*1166G>T) c.1569G>T (p.Met523Ile) c.1506G>T (p.Met502Ile) n.540G>T c.1575G>T (p.Met525Ile) | gnomAD v4 |
| 1 | g.6471044C>G | CA338127824 | PLEKHG5 | c.1338G>C (p.Met446Ile) c.1512G>C (p.Met504Ile) c.1449G>C (p.Met483Ile) n.1814G>C c.1545G>C (p.Met515Ile) c.1635G>C (p.Met545Ile) n.371G>C c.*1550G>C (n.*1550G>C) c.*1166G>C (n.*1166G>C) c.1569G>C (p.Met523Ile) c.1506G>C (p.Met502Ile) n.540G>C c.1575G>C (p.Met525Ile) | |
| 1 | g.6471044C>T | CA338127827 | PLEKHG5 | c.1338G>A (p.Met446Ile) c.1512G>A (p.Met504Ile) c.1449G>A (p.Met483Ile) n.1814G>A c.1545G>A (p.Met515Ile) c.1635G>A (p.Met545Ile) n.371G>A c.*1550G>A (n.*1550G>A) c.*1166G>A (n.*1166G>A) c.1569G>A (p.Met523Ile) c.1506G>A (p.Met502Ile) n.540G>A c.1575G>A (p.Met525Ile) | |
| 1 | g.6471045A>C | CA338127844 | PLEKHG5 | c.1337T>G (p.Met446Arg) c.1511T>G (p.Met504Arg) c.1448T>G (p.Met483Arg) n.1813T>G c.1544T>G (p.Met515Arg) c.1634T>G (p.Met545Arg) n.370T>G c.*1549T>G (n.*1549T>G) c.*1165T>G (n.*1165T>G) c.1568T>G (p.Met523Arg) c.1505T>G (p.Met502Arg) n.539T>G c.1574T>G (p.Met525Arg) | |
| 1 | g.6471045A>G | CA338127846 | PLEKHG5 | c.1337T>C (p.Met446Thr) c.1511T>C (p.Met504Thr) c.1448T>C (p.Met483Thr) n.1813T>C c.1544T>C (p.Met515Thr) c.1634T>C (p.Met545Thr) n.370T>C c.*1549T>C (n.*1549T>C) c.*1165T>C (n.*1165T>C) c.1568T>C (p.Met523Thr) c.1505T>C (p.Met502Thr) n.539T>C c.1574T>C (p.Met525Thr) | gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.6471045A>T | CA338127848 | PLEKHG5 | c.1337T>A (p.Met446Lys) c.1511T>A (p.Met504Lys) c.1448T>A (p.Met483Lys) n.1813T>A c.1544T>A (p.Met515Lys) c.1634T>A (p.Met545Lys) n.370T>A c.*1549T>A (n.*1549T>A) c.*1165T>A (n.*1165T>A) c.1568T>A (p.Met523Lys) c.1505T>A (p.Met502Lys) n.539T>A c.1574T>A (p.Met525Lys) | |
| 1 | g.6471046T>A | CA338127852 | PLEKHG5 | c.1336A>T (p.Met446Leu) c.1510A>T (p.Met504Leu) c.1447A>T (p.Met483Leu) n.1812A>T c.1543A>T (p.Met515Leu) c.1633A>T (p.Met545Leu) n.369A>T c.*1548A>T (n.*1548A>T) c.*1164A>T (n.*1164A>T) c.1567A>T (p.Met523Leu) c.1504A>T (p.Met502Leu) n.538A>T c.1573A>T (p.Met525Leu) | |
| 1 | g.6471046T>C | CA338127854 | PLEKHG5 | c.1336A>G (p.Met446Val) c.1510A>G (p.Met504Val) c.1447A>G (p.Met483Val) n.1812A>G c.1543A>G (p.Met515Val) c.1633A>G (p.Met545Val) n.369A>G c.*1548A>G (n.*1548A>G) c.*1164A>G (n.*1164A>G) c.1567A>G (p.Met523Val) c.1504A>G (p.Met502Val) n.538A>G c.1573A>G (p.Met525Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6471046T>G | CA338127856 | PLEKHG5 | c.1336A>C (p.Met446Leu) c.1510A>C (p.Met504Leu) c.1447A>C (p.Met483Leu) n.1812A>C c.1543A>C (p.Met515Leu) c.1633A>C (p.Met545Leu) n.369A>C c.*1548A>C (n.*1548A>C) c.*1164A>C (n.*1164A>C) c.1567A>C (p.Met523Leu) c.1504A>C (p.Met502Leu) n.538A>C c.1573A>C (p.Met525Leu) | |
| 1 | g.6471046T= | CA1151526582 | PLEKHG5 | c.1336A= (p.Met446=) c.1510A= (p.Met504=) c.1447A= (p.Met483=) n.1812A= c.1543A= (p.Met515=) c.1633A= (p.Met545=) n.369A= c.*1548A= (n.*1548A=) c.*1164A= (n.*1164A=) c.1567A= (p.Met523=) c.1504A= (p.Met502=) n.538A= c.1573A= (p.Met525=) | |
| 1 | g.6471047G>A | CA416022971 | PLEKHG5 | c.1335C>T (p.Cys445=) c.1509C>T (p.Cys503=) c.1446C>T (p.Cys482=) n.1811C>T c.1542C>T (p.Cys514=) c.1632C>T (p.Cys544=) n.368C>T c.*1547C>T (n.*1547C>T) c.*1163C>T (n.*1163C>T) c.1566C>T (p.Cys522=) c.1503C>T (p.Cys501=) n.537C>T c.1572C>T (p.Cys524=) | ClinVar gnomAD v4 |
| 1 | g.6471047G>C | CA338127858 | PLEKHG5 | c.1335C>G (p.Cys445Trp) c.1509C>G (p.Cys503Trp) c.1446C>G (p.Cys482Trp) n.1811C>G c.1542C>G (p.Cys514Trp) c.1632C>G (p.Cys544Trp) n.368C>G c.*1547C>G (n.*1547C>G) c.*1163C>G (n.*1163C>G) c.1566C>G (p.Cys522Trp) c.1503C>G (p.Cys501Trp) n.537C>G c.1572C>G (p.Cys524Trp) | |
| 1 | g.6471047G= | CA1143811377 | PLEKHG5 | c.1335C= (p.Cys445=) c.1509C= (p.Cys503=) c.1446C= (p.Cys482=) n.1811C= c.1542C= (p.Cys514=) c.1632C= (p.Cys544=) n.368C= c.*1547C= (n.*1547C=) c.*1163C= (n.*1163C=) c.1566C= (p.Cys522=) c.1503C= (p.Cys501=) n.537C= c.1572C= (p.Cys524=) | |
| 1 | g.6471047G>T | CA17237687 | PLEKHG5 | c.1335C>A (p.Cys445Ter) c.1509C>A (p.Cys503Ter) c.1446C>A (p.Cys482Ter) n.1811C>A c.1542C>A (p.Cys514Ter) c.1632C>A (p.Cys544Ter) n.368C>A c.*1547C>A (n.*1547C>A) c.*1163C>A (n.*1163C>A) c.1566C>A (p.Cys522Ter) c.1503C>A (p.Cys501Ter) n.537C>A c.1572C>A (p.Cys524Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6471048C>A | CA338127870 | PLEKHG5 | c.1334G>T (p.Cys445Phe) c.1508G>T (p.Cys503Phe) c.1445G>T (p.Cys482Phe) n.1810G>T c.1541G>T (p.Cys514Phe) c.1631G>T (p.Cys544Phe) n.367G>T c.*1546G>T (n.*1546G>T) c.*1162G>T (n.*1162G>T) c.1565G>T (p.Cys522Phe) c.1502G>T (p.Cys501Phe) n.536G>T c.1571G>T (p.Cys524Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6471048C= | CA1151526589 | PLEKHG5 | c.1334G= (p.Cys445=) c.1508G= (p.Cys503=) c.1445G= (p.Cys482=) n.1810G= c.1541G= (p.Cys514=) c.1631G= (p.Cys544=) n.367G= c.*1546G= (n.*1546G=) c.*1162G= (n.*1162G=) c.1565G= (p.Cys522=) c.1502G= (p.Cys501=) n.536G= c.1571G= (p.Cys524=) | |
| 1 | g.6471048C>G | CA338127868 | PLEKHG5 | c.1334G>C (p.Cys445Ser) c.1508G>C (p.Cys503Ser) c.1445G>C (p.Cys482Ser) n.1810G>C c.1541G>C (p.Cys514Ser) c.1631G>C (p.Cys544Ser) n.367G>C c.*1546G>C (n.*1546G>C) c.*1162G>C (n.*1162G>C) c.1565G>C (p.Cys522Ser) c.1502G>C (p.Cys501Ser) n.536G>C c.1571G>C (p.Cys524Ser) | |
| 1 | g.6471048C>T | CA338127862 | PLEKHG5 | c.1334G>A (p.Cys445Tyr) c.1508G>A (p.Cys503Tyr) c.1445G>A (p.Cys482Tyr) n.1810G>A c.1541G>A (p.Cys514Tyr) c.1631G>A (p.Cys544Tyr) n.367G>A c.*1546G>A (n.*1546G>A) c.*1162G>A (n.*1162G>A) c.1565G>A (p.Cys522Tyr) c.1502G>A (p.Cys501Tyr) n.536G>A c.1571G>A (p.Cys524Tyr) | gnomAD v4 |
| 1 | g.6471049A>C | CA338127880 | PLEKHG5 | c.1333T>G (p.Cys445Gly) c.1507T>G (p.Cys503Gly) c.1444T>G (p.Cys482Gly) n.1809T>G c.1540T>G (p.Cys514Gly) c.1630T>G (p.Cys544Gly) n.366T>G c.*1545T>G (n.*1545T>G) c.*1161T>G (n.*1161T>G) c.1564T>G (p.Cys522Gly) c.1501T>G (p.Cys501Gly) n.535T>G c.1570T>G (p.Cys524Gly) | |
| 1 | g.6471049A>G | CA338127901 | PLEKHG5 | c.1333T>C (p.Cys445Arg) c.1507T>C (p.Cys503Arg) c.1444T>C (p.Cys482Arg) n.1809T>C c.1540T>C (p.Cys514Arg) c.1630T>C (p.Cys544Arg) n.366T>C c.*1545T>C (n.*1545T>C) c.*1161T>C (n.*1161T>C) c.1564T>C (p.Cys522Arg) c.1501T>C (p.Cys501Arg) n.535T>C c.1570T>C (p.Cys524Arg) | |
| 1 | g.6471049A>T | CA338127927 | PLEKHG5 | c.1333T>A (p.Cys445Ser) c.1507T>A (p.Cys503Ser) c.1444T>A (p.Cys482Ser) n.1809T>A c.1540T>A (p.Cys514Ser) c.1630T>A (p.Cys544Ser) n.366T>A c.*1545T>A (n.*1545T>A) c.*1161T>A (n.*1161T>A) c.1564T>A (p.Cys522Ser) c.1501T>A (p.Cys501Ser) n.535T>A c.1570T>A (p.Cys524Ser) |