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 |
|---|---|---|---|---|---|
| 8 | g.143933210G>A | CA10575770 | PLEC | c.1537C>T (p.Gln513Ter) c.1456C>T (p.Gln486Ter) c.1123C>T (p.Gln375Ter) c.1336C>T (p.Gln446Ter) c.1405C>T (p.Gln469Ter) c.1486C>T (p.Gln496Ter) c.1816C>T (p.Gln606Ter) c.1339C>T (p.Gln447Ter) c.1363C>T (p.Gln455Ter) c.1417C>T (p.Gln473Ter) c.1309C>T (p.Gln437Ter) c.1474C>T (p.Gln492Ter) c.1831C>T (p.Gln611Ter) c.1432C>T (p.Gln478Ter) c.1420C>T (p.Gln474Ter) c.1378C>T (p.Gln460Ter) c.1354C>T (p.Gln452Ter) c.1324C>T (p.Gln442Ter) c.1501C>T (p.Gln501Ter) c.1351C>T (p.Gln451Ter) | ClinVar dbSNP |
| 8 | g.143933210G>C | CA372581909 | PLEC | c.1537C>G (p.Gln513Glu) c.1456C>G (p.Gln486Glu) c.1123C>G (p.Gln375Glu) c.1336C>G (p.Gln446Glu) c.1405C>G (p.Gln469Glu) c.1486C>G (p.Gln496Glu) c.1816C>G (p.Gln606Glu) c.1339C>G (p.Gln447Glu) c.1363C>G (p.Gln455Glu) c.1417C>G (p.Gln473Glu) c.1309C>G (p.Gln437Glu) c.1474C>G (p.Gln492Glu) c.1831C>G (p.Gln611Glu) c.1432C>G (p.Gln478Glu) c.1420C>G (p.Gln474Glu) c.1378C>G (p.Gln460Glu) c.1354C>G (p.Gln452Glu) c.1324C>G (p.Gln442Glu) c.1501C>G (p.Gln501Glu) c.1351C>G (p.Gln451Glu) | |
| 8 | g.143933210G= | CA1826051272 | PLEC | c.1537C= (p.Gln513=) c.1456C= (p.Gln486=) c.1123C= (p.Gln375=) c.1336C= (p.Gln446=) c.1405C= (p.Gln469=) c.1486C= (p.Gln496=) c.1816C= (p.Gln606=) c.1339C= (p.Gln447=) c.1363C= (p.Gln455=) c.1417C= (p.Gln473=) c.1309C= (p.Gln437=) c.1474C= (p.Gln492=) c.1831C= (p.Gln611=) c.1432C= (p.Gln478=) c.1420C= (p.Gln474=) c.1378C= (p.Gln460=) c.1354C= (p.Gln452=) c.1324C= (p.Gln442=) c.1501C= (p.Gln501=) c.1351C= (p.Gln451=) | |
| 8 | g.143933210G>T | CA372581911 | PLEC | c.1537C>A (p.Gln513Lys) c.1456C>A (p.Gln486Lys) c.1123C>A (p.Gln375Lys) c.1336C>A (p.Gln446Lys) c.1405C>A (p.Gln469Lys) c.1486C>A (p.Gln496Lys) c.1816C>A (p.Gln606Lys) c.1339C>A (p.Gln447Lys) c.1363C>A (p.Gln455Lys) c.1417C>A (p.Gln473Lys) c.1309C>A (p.Gln437Lys) c.1474C>A (p.Gln492Lys) c.1831C>A (p.Gln611Lys) c.1432C>A (p.Gln478Lys) c.1420C>A (p.Gln474Lys) c.1378C>A (p.Gln460Lys) c.1354C>A (p.Gln452Lys) c.1324C>A (p.Gln442Lys) c.1501C>A (p.Gln501Lys) c.1351C>A (p.Gln451Lys) | |
| 8 | g.143933211C>A | CA372581913 | PLEC | c.1536G>T (p.Glu512Asp) c.1455G>T (p.Glu485Asp) c.1122G>T (p.Glu374Asp) c.1335G>T (p.Glu445Asp) c.1404G>T (p.Glu468Asp) c.1485G>T (p.Glu495Asp) c.1815G>T (p.Glu605Asp) c.1338G>T (p.Glu446Asp) c.1362G>T (p.Glu454Asp) c.1416G>T (p.Glu472Asp) c.1308G>T (p.Glu436Asp) c.1473G>T (p.Glu491Asp) c.1830G>T (p.Glu610Asp) c.1431G>T (p.Glu477Asp) c.1419G>T (p.Glu473Asp) c.1377G>T (p.Glu459Asp) c.1353G>T (p.Glu451Asp) c.1323G>T (p.Glu441Asp) c.1500G>T (p.Glu500Asp) c.1350G>T (p.Glu450Asp) | |
| 8 | g.143933211C= | CA1826051273 | PLEC | c.1536G= (p.Glu512=) c.1455G= (p.Glu485=) c.1122G= (p.Glu374=) c.1335G= (p.Glu445=) c.1404G= (p.Glu468=) c.1485G= (p.Glu495=) c.1815G= (p.Glu605=) c.1338G= (p.Glu446=) c.1362G= (p.Glu454=) c.1416G= (p.Glu472=) c.1308G= (p.Glu436=) c.1473G= (p.Glu491=) c.1830G= (p.Glu610=) c.1431G= (p.Glu477=) c.1419G= (p.Glu473=) c.1377G= (p.Glu459=) c.1353G= (p.Glu451=) c.1323G= (p.Glu441=) c.1500G= (p.Glu500=) c.1350G= (p.Glu450=) | |
| 8 | g.143933211C>G | CA372581916 | PLEC | c.1536G>C (p.Glu512Asp) c.1455G>C (p.Glu485Asp) c.1122G>C (p.Glu374Asp) c.1335G>C (p.Glu445Asp) c.1404G>C (p.Glu468Asp) c.1485G>C (p.Glu495Asp) c.1815G>C (p.Glu605Asp) c.1338G>C (p.Glu446Asp) c.1362G>C (p.Glu454Asp) c.1416G>C (p.Glu472Asp) c.1308G>C (p.Glu436Asp) c.1473G>C (p.Glu491Asp) c.1830G>C (p.Glu610Asp) c.1431G>C (p.Glu477Asp) c.1419G>C (p.Glu473Asp) c.1377G>C (p.Glu459Asp) c.1353G>C (p.Glu451Asp) c.1323G>C (p.Glu441Asp) c.1500G>C (p.Glu500Asp) c.1350G>C (p.Glu450Asp) | |
| 8 | g.143933211C>T | CA187622296 | PLEC | c.1536G>A (p.Glu512=) c.1455G>A (p.Glu485=) c.1122G>A (p.Glu374=) c.1335G>A (p.Glu445=) c.1404G>A (p.Glu468=) c.1485G>A (p.Glu495=) c.1815G>A (p.Glu605=) c.1338G>A (p.Glu446=) c.1362G>A (p.Glu454=) c.1416G>A (p.Glu472=) c.1308G>A (p.Glu436=) c.1473G>A (p.Glu491=) c.1830G>A (p.Glu610=) c.1431G>A (p.Glu477=) c.1419G>A (p.Glu473=) c.1377G>A (p.Glu459=) c.1353G>A (p.Glu451=) c.1323G>A (p.Glu441=) c.1500G>A (p.Glu500=) c.1350G>A (p.Glu450=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.143933212T>A | CA372581919 | PLEC | c.1535A>T (p.Glu512Val) c.1454A>T (p.Glu485Val) c.1121A>T (p.Glu374Val) c.1334A>T (p.Glu445Val) c.1403A>T (p.Glu468Val) c.1484A>T (p.Glu495Val) c.1814A>T (p.Glu605Val) c.1337A>T (p.Glu446Val) c.1361A>T (p.Glu454Val) c.1415A>T (p.Glu472Val) c.1307A>T (p.Glu436Val) c.1472A>T (p.Glu491Val) c.1829A>T (p.Glu610Val) c.1430A>T (p.Glu477Val) c.1418A>T (p.Glu473Val) c.1376A>T (p.Glu459Val) c.1352A>T (p.Glu451Val) c.1322A>T (p.Glu441Val) c.1499A>T (p.Glu500Val) c.1349A>T (p.Glu450Val) | |
| 8 | g.143933212T>C | CA372581921 | PLEC | c.1535A>G (p.Glu512Gly) c.1454A>G (p.Glu485Gly) c.1121A>G (p.Glu374Gly) c.1334A>G (p.Glu445Gly) c.1403A>G (p.Glu468Gly) c.1484A>G (p.Glu495Gly) c.1814A>G (p.Glu605Gly) c.1337A>G (p.Glu446Gly) c.1361A>G (p.Glu454Gly) c.1415A>G (p.Glu472Gly) c.1307A>G (p.Glu436Gly) c.1472A>G (p.Glu491Gly) c.1829A>G (p.Glu610Gly) c.1430A>G (p.Glu477Gly) c.1418A>G (p.Glu473Gly) c.1376A>G (p.Glu459Gly) c.1352A>G (p.Glu451Gly) c.1322A>G (p.Glu441Gly) c.1499A>G (p.Glu500Gly) c.1349A>G (p.Glu450Gly) | |
| 8 | g.143933212T>G | CA372581923 | PLEC | c.1535A>C (p.Glu512Ala) c.1454A>C (p.Glu485Ala) c.1121A>C (p.Glu374Ala) c.1334A>C (p.Glu445Ala) c.1403A>C (p.Glu468Ala) c.1484A>C (p.Glu495Ala) c.1814A>C (p.Glu605Ala) c.1337A>C (p.Glu446Ala) c.1361A>C (p.Glu454Ala) c.1415A>C (p.Glu472Ala) c.1307A>C (p.Glu436Ala) c.1472A>C (p.Glu491Ala) c.1829A>C (p.Glu610Ala) c.1430A>C (p.Glu477Ala) c.1418A>C (p.Glu473Ala) c.1376A>C (p.Glu459Ala) c.1352A>C (p.Glu451Ala) c.1322A>C (p.Glu441Ala) c.1499A>C (p.Glu500Ala) c.1349A>C (p.Glu450Ala) | |
| 8 | g.143933213C>A | CA372581926 | PLEC | c.1534G>T (p.Glu512Ter) c.1453G>T (p.Glu485Ter) c.1120G>T (p.Glu374Ter) c.1333G>T (p.Glu445Ter) c.1402G>T (p.Glu468Ter) c.1483G>T (p.Glu495Ter) c.1813G>T (p.Glu605Ter) c.1336G>T (p.Glu446Ter) c.1360G>T (p.Glu454Ter) c.1414G>T (p.Glu472Ter) c.1306G>T (p.Glu436Ter) c.1471G>T (p.Glu491Ter) c.1828G>T (p.Glu610Ter) c.1429G>T (p.Glu477Ter) c.1417G>T (p.Glu473Ter) c.1375G>T (p.Glu459Ter) c.1351G>T (p.Glu451Ter) c.1321G>T (p.Glu441Ter) c.1498G>T (p.Glu500Ter) c.1348G>T (p.Glu450Ter) | |
| 8 | g.143933213C= | CA1826051274 | PLEC | c.1534G= (p.Glu512=) c.1453G= (p.Glu485=) c.1120G= (p.Glu374=) c.1333G= (p.Glu445=) c.1402G= (p.Glu468=) c.1483G= (p.Glu495=) c.1813G= (p.Glu605=) c.1336G= (p.Glu446=) c.1360G= (p.Glu454=) c.1414G= (p.Glu472=) c.1306G= (p.Glu436=) c.1471G= (p.Glu491=) c.1828G= (p.Glu610=) c.1429G= (p.Glu477=) c.1417G= (p.Glu473=) c.1375G= (p.Glu459=) c.1351G= (p.Glu451=) c.1321G= (p.Glu441=) c.1498G= (p.Glu500=) c.1348G= (p.Glu450=) | |
| 8 | g.143933213C>G | CA4927988 | PLEC | c.1534G>C (p.Glu512Gln) c.1453G>C (p.Glu485Gln) c.1120G>C (p.Glu374Gln) c.1333G>C (p.Glu445Gln) c.1402G>C (p.Glu468Gln) c.1483G>C (p.Glu495Gln) c.1813G>C (p.Glu605Gln) c.1336G>C (p.Glu446Gln) c.1360G>C (p.Glu454Gln) c.1414G>C (p.Glu472Gln) c.1306G>C (p.Glu436Gln) c.1471G>C (p.Glu491Gln) c.1828G>C (p.Glu610Gln) c.1429G>C (p.Glu477Gln) c.1417G>C (p.Glu473Gln) c.1375G>C (p.Glu459Gln) c.1351G>C (p.Glu451Gln) c.1321G>C (p.Glu441Gln) c.1498G>C (p.Glu500Gln) c.1348G>C (p.Glu450Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143933213C>T | CA4927989 | PLEC | c.1534G>A (p.Glu512Lys) c.1453G>A (p.Glu485Lys) c.1120G>A (p.Glu374Lys) c.1333G>A (p.Glu445Lys) c.1402G>A (p.Glu468Lys) c.1483G>A (p.Glu495Lys) c.1813G>A (p.Glu605Lys) c.1336G>A (p.Glu446Lys) c.1360G>A (p.Glu454Lys) c.1414G>A (p.Glu472Lys) c.1306G>A (p.Glu436Lys) c.1471G>A (p.Glu491Lys) c.1828G>A (p.Glu610Lys) c.1429G>A (p.Glu477Lys) c.1417G>A (p.Glu473Lys) c.1375G>A (p.Glu459Lys) c.1351G>A (p.Glu451Lys) c.1321G>A (p.Glu441Lys) c.1498G>A (p.Glu500Lys) c.1348G>A (p.Glu450Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143933214G>A | CA463536743 | PLEC | c.1533C>T (p.Gly511=) c.1452C>T (p.Gly484=) c.1119C>T (p.Gly373=) c.1332C>T (p.Gly444=) c.1401C>T (p.Gly467=) c.1482C>T (p.Gly494=) c.1812C>T (p.Gly604=) c.1335C>T (p.Gly445=) c.1359C>T (p.Gly453=) c.1413C>T (p.Gly471=) c.1305C>T (p.Gly435=) c.1470C>T (p.Gly490=) c.1827C>T (p.Gly609=) c.1428C>T (p.Gly476=) c.1416C>T (p.Gly472=) c.1374C>T (p.Gly458=) c.1350C>T (p.Gly450=) c.1320C>T (p.Gly440=) c.1497C>T (p.Gly499=) c.1347C>T (p.Gly449=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143933214G>C | CA4927990 | PLEC | c.1533C>G (p.Gly511=) c.1452C>G (p.Gly484=) c.1119C>G (p.Gly373=) c.1332C>G (p.Gly444=) c.1401C>G (p.Gly467=) c.1482C>G (p.Gly494=) c.1812C>G (p.Gly604=) c.1335C>G (p.Gly445=) c.1359C>G (p.Gly453=) c.1413C>G (p.Gly471=) c.1305C>G (p.Gly435=) c.1470C>G (p.Gly490=) c.1827C>G (p.Gly609=) c.1428C>G (p.Gly476=) c.1416C>G (p.Gly472=) c.1374C>G (p.Gly458=) c.1350C>G (p.Gly450=) c.1320C>G (p.Gly440=) c.1497C>G (p.Gly499=) c.1347C>G (p.Gly449=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143933214G= | CA1826051275 | PLEC | c.1533C= (p.Gly511=) c.1452C= (p.Gly484=) c.1119C= (p.Gly373=) c.1332C= (p.Gly444=) c.1401C= (p.Gly467=) c.1482C= (p.Gly494=) c.1812C= (p.Gly604=) c.1335C= (p.Gly445=) c.1359C= (p.Gly453=) c.1413C= (p.Gly471=) c.1305C= (p.Gly435=) c.1470C= (p.Gly490=) c.1827C= (p.Gly609=) c.1428C= (p.Gly476=) c.1416C= (p.Gly472=) c.1374C= (p.Gly458=) c.1350C= (p.Gly450=) c.1320C= (p.Gly440=) c.1497C= (p.Gly499=) c.1347C= (p.Gly449=) | |
| 8 | g.143933214G>T | CA463536744 | PLEC | c.1533C>A (p.Gly511=) c.1452C>A (p.Gly484=) c.1119C>A (p.Gly373=) c.1332C>A (p.Gly444=) c.1401C>A (p.Gly467=) c.1482C>A (p.Gly494=) c.1812C>A (p.Gly604=) c.1335C>A (p.Gly445=) c.1359C>A (p.Gly453=) c.1413C>A (p.Gly471=) c.1305C>A (p.Gly435=) c.1470C>A (p.Gly490=) c.1827C>A (p.Gly609=) c.1428C>A (p.Gly476=) c.1416C>A (p.Gly472=) c.1374C>A (p.Gly458=) c.1350C>A (p.Gly450=) c.1320C>A (p.Gly440=) c.1497C>A (p.Gly499=) c.1347C>A (p.Gly449=) | |
| 8 | g.143933215C>A | CA372581933 | PLEC | c.1532G>T (p.Gly511Val) c.1451G>T (p.Gly484Val) c.1118G>T (p.Gly373Val) c.1331G>T (p.Gly444Val) c.1400G>T (p.Gly467Val) c.1481G>T (p.Gly494Val) c.1811G>T (p.Gly604Val) c.1334G>T (p.Gly445Val) c.1358G>T (p.Gly453Val) c.1412G>T (p.Gly471Val) c.1304G>T (p.Gly435Val) c.1469G>T (p.Gly490Val) c.1826G>T (p.Gly609Val) c.1427G>T (p.Gly476Val) c.1415G>T (p.Gly472Val) c.1373G>T (p.Gly458Val) c.1349G>T (p.Gly450Val) c.1319G>T (p.Gly440Val) c.1496G>T (p.Gly499Val) c.1346G>T (p.Gly449Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143933215C= | CA1826051276 | PLEC | c.1532G= (p.Gly511=) c.1451G= (p.Gly484=) c.1118G= (p.Gly373=) c.1331G= (p.Gly444=) c.1400G= (p.Gly467=) c.1481G= (p.Gly494=) c.1811G= (p.Gly604=) c.1334G= (p.Gly445=) c.1358G= (p.Gly453=) c.1412G= (p.Gly471=) c.1304G= (p.Gly435=) c.1469G= (p.Gly490=) c.1826G= (p.Gly609=) c.1427G= (p.Gly476=) c.1415G= (p.Gly472=) c.1373G= (p.Gly458=) c.1349G= (p.Gly450=) c.1319G= (p.Gly440=) c.1496G= (p.Gly499=) c.1346G= (p.Gly449=) | |
| 8 | g.143933215C>G | CA372581935 | PLEC | c.1532G>C (p.Gly511Ala) c.1451G>C (p.Gly484Ala) c.1118G>C (p.Gly373Ala) c.1331G>C (p.Gly444Ala) c.1400G>C (p.Gly467Ala) c.1481G>C (p.Gly494Ala) c.1811G>C (p.Gly604Ala) c.1334G>C (p.Gly445Ala) c.1358G>C (p.Gly453Ala) c.1412G>C (p.Gly471Ala) c.1304G>C (p.Gly435Ala) c.1469G>C (p.Gly490Ala) c.1826G>C (p.Gly609Ala) c.1427G>C (p.Gly476Ala) c.1415G>C (p.Gly472Ala) c.1373G>C (p.Gly458Ala) c.1349G>C (p.Gly450Ala) c.1319G>C (p.Gly440Ala) c.1496G>C (p.Gly499Ala) c.1346G>C (p.Gly449Ala) | |
| 8 | g.143933215C>T | CA372581937 | PLEC | c.1532G>A (p.Gly511Asp) c.1451G>A (p.Gly484Asp) c.1118G>A (p.Gly373Asp) c.1331G>A (p.Gly444Asp) c.1400G>A (p.Gly467Asp) c.1481G>A (p.Gly494Asp) c.1811G>A (p.Gly604Asp) c.1334G>A (p.Gly445Asp) c.1358G>A (p.Gly453Asp) c.1412G>A (p.Gly471Asp) c.1304G>A (p.Gly435Asp) c.1469G>A (p.Gly490Asp) c.1826G>A (p.Gly609Asp) c.1427G>A (p.Gly476Asp) c.1415G>A (p.Gly472Asp) c.1373G>A (p.Gly458Asp) c.1349G>A (p.Gly450Asp) c.1319G>A (p.Gly440Asp) c.1496G>A (p.Gly499Asp) c.1346G>A (p.Gly449Asp) | ClinVar dbSNP |
| 8 | g.143933216C>A | CA372581938 | PLEC | c.1531G>T (p.Gly511Cys) c.1450G>T (p.Gly484Cys) c.1117G>T (p.Gly373Cys) c.1330G>T (p.Gly444Cys) c.1399G>T (p.Gly467Cys) c.1480G>T (p.Gly494Cys) c.1810G>T (p.Gly604Cys) c.1333G>T (p.Gly445Cys) c.1357G>T (p.Gly453Cys) c.1411G>T (p.Gly471Cys) c.1303G>T (p.Gly435Cys) c.1468G>T (p.Gly490Cys) c.1825G>T (p.Gly609Cys) c.1426G>T (p.Gly476Cys) c.1414G>T (p.Gly472Cys) c.1372G>T (p.Gly458Cys) c.1348G>T (p.Gly450Cys) c.1318G>T (p.Gly440Cys) c.1495G>T (p.Gly499Cys) c.1345G>T (p.Gly449Cys) | |
| 8 | g.143933216C= | CA1826051277 | PLEC | c.1531G= (p.Gly511=) c.1450G= (p.Gly484=) c.1117G= (p.Gly373=) c.1330G= (p.Gly444=) c.1399G= (p.Gly467=) c.1480G= (p.Gly494=) c.1810G= (p.Gly604=) c.1333G= (p.Gly445=) c.1357G= (p.Gly453=) c.1411G= (p.Gly471=) c.1303G= (p.Gly435=) c.1468G= (p.Gly490=) c.1825G= (p.Gly609=) c.1426G= (p.Gly476=) c.1414G= (p.Gly472=) c.1372G= (p.Gly458=) c.1348G= (p.Gly450=) c.1318G= (p.Gly440=) c.1495G= (p.Gly499=) c.1345G= (p.Gly449=) | |
| 8 | g.143933216C>G | CA372581940 | PLEC | c.1531G>C (p.Gly511Arg) c.1450G>C (p.Gly484Arg) c.1117G>C (p.Gly373Arg) c.1330G>C (p.Gly444Arg) c.1399G>C (p.Gly467Arg) c.1480G>C (p.Gly494Arg) c.1810G>C (p.Gly604Arg) c.1333G>C (p.Gly445Arg) c.1357G>C (p.Gly453Arg) c.1411G>C (p.Gly471Arg) c.1303G>C (p.Gly435Arg) c.1468G>C (p.Gly490Arg) c.1825G>C (p.Gly609Arg) c.1426G>C (p.Gly476Arg) c.1414G>C (p.Gly472Arg) c.1372G>C (p.Gly458Arg) c.1348G>C (p.Gly450Arg) c.1318G>C (p.Gly440Arg) c.1495G>C (p.Gly499Arg) c.1345G>C (p.Gly449Arg) | |
| 8 | g.143933216C>T | CA187622304 | PLEC | c.1531G>A (p.Gly511Ser) c.1450G>A (p.Gly484Ser) c.1117G>A (p.Gly373Ser) c.1330G>A (p.Gly444Ser) c.1399G>A (p.Gly467Ser) c.1480G>A (p.Gly494Ser) c.1810G>A (p.Gly604Ser) c.1333G>A (p.Gly445Ser) c.1357G>A (p.Gly453Ser) c.1411G>A (p.Gly471Ser) c.1303G>A (p.Gly435Ser) c.1468G>A (p.Gly490Ser) c.1825G>A (p.Gly609Ser) c.1426G>A (p.Gly476Ser) c.1414G>A (p.Gly472Ser) c.1372G>A (p.Gly458Ser) c.1348G>A (p.Gly450Ser) c.1318G>A (p.Gly440Ser) c.1495G>A (p.Gly499Ser) c.1345G>A (p.Gly449Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.143933217C>A | CA372581942 | PLEC | c.1530G>T (p.Gln510His) c.1449G>T (p.Gln483His) c.1116G>T (p.Gln372His) c.1329G>T (p.Gln443His) c.1398G>T (p.Gln466His) c.1479G>T (p.Gln493His) c.1809G>T (p.Gln603His) c.1332G>T (p.Gln444His) c.1356G>T (p.Gln452His) c.1410G>T (p.Gln470His) c.1302G>T (p.Gln434His) c.1467G>T (p.Gln489His) c.1824G>T (p.Gln608His) c.1425G>T (p.Gln475His) c.1413G>T (p.Gln471His) c.1371G>T (p.Gln457His) c.1347G>T (p.Gln449His) c.1317G>T (p.Gln439His) c.1494G>T (p.Gln498His) c.1344G>T (p.Gln448His) | |
| 8 | g.143933217C>G | CA372581945 | PLEC | c.1530G>C (p.Gln510His) c.1449G>C (p.Gln483His) c.1116G>C (p.Gln372His) c.1329G>C (p.Gln443His) c.1398G>C (p.Gln466His) c.1479G>C (p.Gln493His) c.1809G>C (p.Gln603His) c.1332G>C (p.Gln444His) c.1356G>C (p.Gln452His) c.1410G>C (p.Gln470His) c.1302G>C (p.Gln434His) c.1467G>C (p.Gln489His) c.1824G>C (p.Gln608His) c.1425G>C (p.Gln475His) c.1413G>C (p.Gln471His) c.1371G>C (p.Gln457His) c.1347G>C (p.Gln449His) c.1317G>C (p.Gln439His) c.1494G>C (p.Gln498His) c.1344G>C (p.Gln448His) | gnomAD v4 |
| 8 | g.143933217C>T | CA463536750 | PLEC | c.1530G>A (p.Gln510=) c.1449G>A (p.Gln483=) c.1116G>A (p.Gln372=) c.1329G>A (p.Gln443=) c.1398G>A (p.Gln466=) c.1479G>A (p.Gln493=) c.1809G>A (p.Gln603=) c.1332G>A (p.Gln444=) c.1356G>A (p.Gln452=) c.1410G>A (p.Gln470=) c.1302G>A (p.Gln434=) c.1467G>A (p.Gln489=) c.1824G>A (p.Gln608=) c.1425G>A (p.Gln475=) c.1413G>A (p.Gln471=) c.1371G>A (p.Gln457=) c.1347G>A (p.Gln449=) c.1317G>A (p.Gln439=) c.1494G>A (p.Gln498=) c.1344G>A (p.Gln448=) | |
| 8 | g.143933218T>A | CA372581947 | PLEC | c.1529A>T (p.Gln510Leu) c.1448A>T (p.Gln483Leu) c.1115A>T (p.Gln372Leu) c.1328A>T (p.Gln443Leu) c.1397A>T (p.Gln466Leu) c.1478A>T (p.Gln493Leu) c.1808A>T (p.Gln603Leu) c.1331A>T (p.Gln444Leu) c.1355A>T (p.Gln452Leu) c.1409A>T (p.Gln470Leu) c.1301A>T (p.Gln434Leu) c.1466A>T (p.Gln489Leu) c.1823A>T (p.Gln608Leu) c.1424A>T (p.Gln475Leu) c.1412A>T (p.Gln471Leu) c.1370A>T (p.Gln457Leu) c.1346A>T (p.Gln449Leu) c.1316A>T (p.Gln439Leu) c.1493A>T (p.Gln498Leu) c.1343A>T (p.Gln448Leu) | |
| 8 | g.143933218T>C | CA372581949 | PLEC | c.1529A>G (p.Gln510Arg) c.1448A>G (p.Gln483Arg) c.1115A>G (p.Gln372Arg) c.1328A>G (p.Gln443Arg) c.1397A>G (p.Gln466Arg) c.1478A>G (p.Gln493Arg) c.1808A>G (p.Gln603Arg) c.1331A>G (p.Gln444Arg) c.1355A>G (p.Gln452Arg) c.1409A>G (p.Gln470Arg) c.1301A>G (p.Gln434Arg) c.1466A>G (p.Gln489Arg) c.1823A>G (p.Gln608Arg) c.1424A>G (p.Gln475Arg) c.1412A>G (p.Gln471Arg) c.1370A>G (p.Gln457Arg) c.1346A>G (p.Gln449Arg) c.1316A>G (p.Gln439Arg) c.1493A>G (p.Gln498Arg) c.1343A>G (p.Gln448Arg) | dbSNP |
| 8 | g.143933218T>G | CA372581952 | PLEC | c.1529A>C (p.Gln510Pro) c.1448A>C (p.Gln483Pro) c.1115A>C (p.Gln372Pro) c.1328A>C (p.Gln443Pro) c.1397A>C (p.Gln466Pro) c.1478A>C (p.Gln493Pro) c.1808A>C (p.Gln603Pro) c.1331A>C (p.Gln444Pro) c.1355A>C (p.Gln452Pro) c.1409A>C (p.Gln470Pro) c.1301A>C (p.Gln434Pro) c.1466A>C (p.Gln489Pro) c.1823A>C (p.Gln608Pro) c.1424A>C (p.Gln475Pro) c.1412A>C (p.Gln471Pro) c.1370A>C (p.Gln457Pro) c.1346A>C (p.Gln449Pro) c.1316A>C (p.Gln439Pro) c.1493A>C (p.Gln498Pro) c.1343A>C (p.Gln448Pro) | |
| 8 | g.143933218T= | CA1826051278 | PLEC | c.1529A= (p.Gln510=) c.1448A= (p.Gln483=) c.1115A= (p.Gln372=) c.1328A= (p.Gln443=) c.1397A= (p.Gln466=) c.1478A= (p.Gln493=) c.1808A= (p.Gln603=) c.1331A= (p.Gln444=) c.1355A= (p.Gln452=) c.1409A= (p.Gln470=) c.1301A= (p.Gln434=) c.1466A= (p.Gln489=) c.1823A= (p.Gln608=) c.1424A= (p.Gln475=) c.1412A= (p.Gln471=) c.1370A= (p.Gln457=) c.1346A= (p.Gln449=) c.1316A= (p.Gln439=) c.1493A= (p.Gln498=) c.1343A= (p.Gln448=) | |
| 8 | g.143933219G>A | CA372581958 | PLEC | c.1528C>T (p.Gln510Ter) c.1447C>T (p.Gln483Ter) c.1114C>T (p.Gln372Ter) c.1327C>T (p.Gln443Ter) c.1396C>T (p.Gln466Ter) c.1477C>T (p.Gln493Ter) c.1807C>T (p.Gln603Ter) c.1330C>T (p.Gln444Ter) c.1354C>T (p.Gln452Ter) c.1408C>T (p.Gln470Ter) c.1300C>T (p.Gln434Ter) c.1465C>T (p.Gln489Ter) c.1822C>T (p.Gln608Ter) c.1423C>T (p.Gln475Ter) c.1411C>T (p.Gln471Ter) c.1369C>T (p.Gln457Ter) c.1345C>T (p.Gln449Ter) c.1315C>T (p.Gln439Ter) c.1492C>T (p.Gln498Ter) c.1342C>T (p.Gln448Ter) | |
| 8 | g.143933219G>C | CA372581959 | PLEC | c.1528C>G (p.Gln510Glu) c.1447C>G (p.Gln483Glu) c.1114C>G (p.Gln372Glu) c.1327C>G (p.Gln443Glu) c.1396C>G (p.Gln466Glu) c.1477C>G (p.Gln493Glu) c.1807C>G (p.Gln603Glu) c.1330C>G (p.Gln444Glu) c.1354C>G (p.Gln452Glu) c.1408C>G (p.Gln470Glu) c.1300C>G (p.Gln434Glu) c.1465C>G (p.Gln489Glu) c.1822C>G (p.Gln608Glu) c.1423C>G (p.Gln475Glu) c.1411C>G (p.Gln471Glu) c.1369C>G (p.Gln457Glu) c.1345C>G (p.Gln449Glu) c.1315C>G (p.Gln439Glu) c.1492C>G (p.Gln498Glu) c.1342C>G (p.Gln448Glu) | dbSNP gnomAD v4 |
| 8 | g.143933219G= | CA1826051279 | PLEC | c.1528C= (p.Gln510=) c.1447C= (p.Gln483=) c.1114C= (p.Gln372=) c.1327C= (p.Gln443=) c.1396C= (p.Gln466=) c.1477C= (p.Gln493=) c.1807C= (p.Gln603=) c.1330C= (p.Gln444=) c.1354C= (p.Gln452=) c.1408C= (p.Gln470=) c.1300C= (p.Gln434=) c.1465C= (p.Gln489=) c.1822C= (p.Gln608=) c.1423C= (p.Gln475=) c.1411C= (p.Gln471=) c.1369C= (p.Gln457=) c.1345C= (p.Gln449=) c.1315C= (p.Gln439=) c.1492C= (p.Gln498=) c.1342C= (p.Gln448=) | |
| 8 | g.143933219G>T | CA372581956 | PLEC | c.1528C>A (p.Gln510Lys) c.1447C>A (p.Gln483Lys) c.1114C>A (p.Gln372Lys) c.1327C>A (p.Gln443Lys) c.1396C>A (p.Gln466Lys) c.1477C>A (p.Gln493Lys) c.1807C>A (p.Gln603Lys) c.1330C>A (p.Gln444Lys) c.1354C>A (p.Gln452Lys) c.1408C>A (p.Gln470Lys) c.1300C>A (p.Gln434Lys) c.1465C>A (p.Gln489Lys) c.1822C>A (p.Gln608Lys) c.1423C>A (p.Gln475Lys) c.1411C>A (p.Gln471Lys) c.1369C>A (p.Gln457Lys) c.1345C>A (p.Gln449Lys) c.1315C>A (p.Gln439Lys) c.1492C>A (p.Gln498Lys) c.1342C>A (p.Gln448Lys) | dbSNP gnomAD v4 |
| 8 | g.143933220C>A | CA4927993 | PLEC | c.1527G>T (p.Pro509=) c.1446G>T (p.Pro482=) c.1113G>T (p.Pro371=) c.1326G>T (p.Pro442=) c.1395G>T (p.Pro465=) c.1476G>T (p.Pro492=) c.1806G>T (p.Pro602=) c.1329G>T (p.Pro443=) c.1353G>T (p.Pro451=) c.1407G>T (p.Pro469=) c.1299G>T (p.Pro433=) c.1464G>T (p.Pro488=) c.1821G>T (p.Pro607=) c.1422G>T (p.Pro474=) c.1410G>T (p.Pro470=) c.1368G>T (p.Pro456=) c.1344G>T (p.Pro448=) c.1314G>T (p.Pro438=) c.1491G>T (p.Pro497=) c.1341G>T (p.Pro447=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143933220C= | CA1826051280 | PLEC | c.1527G= (p.Pro509=) c.1446G= (p.Pro482=) c.1113G= (p.Pro371=) c.1326G= (p.Pro442=) c.1395G= (p.Pro465=) c.1476G= (p.Pro492=) c.1806G= (p.Pro602=) c.1329G= (p.Pro443=) c.1353G= (p.Pro451=) c.1407G= (p.Pro469=) c.1299G= (p.Pro433=) c.1464G= (p.Pro488=) c.1821G= (p.Pro607=) c.1422G= (p.Pro474=) c.1410G= (p.Pro470=) c.1368G= (p.Pro456=) c.1344G= (p.Pro448=) c.1314G= (p.Pro438=) c.1491G= (p.Pro497=) c.1341G= (p.Pro447=) | |
| 8 | g.143933220C>G | CA4927992 | PLEC | c.1527G>C (p.Pro509=) c.1446G>C (p.Pro482=) c.1113G>C (p.Pro371=) c.1326G>C (p.Pro442=) c.1395G>C (p.Pro465=) c.1476G>C (p.Pro492=) c.1806G>C (p.Pro602=) c.1329G>C (p.Pro443=) c.1353G>C (p.Pro451=) c.1407G>C (p.Pro469=) c.1299G>C (p.Pro433=) c.1464G>C (p.Pro488=) c.1821G>C (p.Pro607=) c.1422G>C (p.Pro474=) c.1410G>C (p.Pro470=) c.1368G>C (p.Pro456=) c.1344G>C (p.Pro448=) c.1314G>C (p.Pro438=) c.1491G>C (p.Pro497=) c.1341G>C (p.Pro447=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143933220C>T | CA4927991 | PLEC | c.1527G>A (p.Pro509=) c.1446G>A (p.Pro482=) c.1113G>A (p.Pro371=) c.1326G>A (p.Pro442=) c.1395G>A (p.Pro465=) c.1476G>A (p.Pro492=) c.1806G>A (p.Pro602=) c.1329G>A (p.Pro443=) c.1353G>A (p.Pro451=) c.1407G>A (p.Pro469=) c.1299G>A (p.Pro433=) c.1464G>A (p.Pro488=) c.1821G>A (p.Pro607=) c.1422G>A (p.Pro474=) c.1410G>A (p.Pro470=) c.1368G>A (p.Pro456=) c.1344G>A (p.Pro448=) c.1314G>A (p.Pro438=) c.1491G>A (p.Pro497=) c.1341G>A (p.Pro447=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 8 | g.143933221G>A | CA4927994 | PLEC | c.1526C>T (p.Pro509Leu) c.1445C>T (p.Pro482Leu) c.1112C>T (p.Pro371Leu) c.1325C>T (p.Pro442Leu) c.1394C>T (p.Pro465Leu) c.1475C>T (p.Pro492Leu) c.1805C>T (p.Pro602Leu) c.1328C>T (p.Pro443Leu) c.1352C>T (p.Pro451Leu) c.1406C>T (p.Pro469Leu) c.1298C>T (p.Pro433Leu) c.1463C>T (p.Pro488Leu) c.1820C>T (p.Pro607Leu) c.1421C>T (p.Pro474Leu) c.1409C>T (p.Pro470Leu) c.1367C>T (p.Pro456Leu) c.1343C>T (p.Pro448Leu) c.1313C>T (p.Pro438Leu) c.1490C>T (p.Pro497Leu) c.1340C>T (p.Pro447Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143933221G>C | CA372581973 | PLEC | c.1526C>G (p.Pro509Arg) c.1445C>G (p.Pro482Arg) c.1112C>G (p.Pro371Arg) c.1325C>G (p.Pro442Arg) c.1394C>G (p.Pro465Arg) c.1475C>G (p.Pro492Arg) c.1805C>G (p.Pro602Arg) c.1328C>G (p.Pro443Arg) c.1352C>G (p.Pro451Arg) c.1406C>G (p.Pro469Arg) c.1298C>G (p.Pro433Arg) c.1463C>G (p.Pro488Arg) c.1820C>G (p.Pro607Arg) c.1421C>G (p.Pro474Arg) c.1409C>G (p.Pro470Arg) c.1367C>G (p.Pro456Arg) c.1343C>G (p.Pro448Arg) c.1313C>G (p.Pro438Arg) c.1490C>G (p.Pro497Arg) c.1340C>G (p.Pro447Arg) | |
| 8 | g.143933221G= | CA1826051281 | PLEC | c.1526C= (p.Pro509=) c.1445C= (p.Pro482=) c.1112C= (p.Pro371=) c.1325C= (p.Pro442=) c.1394C= (p.Pro465=) c.1475C= (p.Pro492=) c.1805C= (p.Pro602=) c.1328C= (p.Pro443=) c.1352C= (p.Pro451=) c.1406C= (p.Pro469=) c.1298C= (p.Pro433=) c.1463C= (p.Pro488=) c.1820C= (p.Pro607=) c.1421C= (p.Pro474=) c.1409C= (p.Pro470=) c.1367C= (p.Pro456=) c.1343C= (p.Pro448=) c.1313C= (p.Pro438=) c.1490C= (p.Pro497=) c.1340C= (p.Pro447=) | |
| 8 | g.143933221G>T | CA372581976 | PLEC | c.1526C>A (p.Pro509Gln) c.1445C>A (p.Pro482Gln) c.1112C>A (p.Pro371Gln) c.1325C>A (p.Pro442Gln) c.1394C>A (p.Pro465Gln) c.1475C>A (p.Pro492Gln) c.1805C>A (p.Pro602Gln) c.1328C>A (p.Pro443Gln) c.1352C>A (p.Pro451Gln) c.1406C>A (p.Pro469Gln) c.1298C>A (p.Pro433Gln) c.1463C>A (p.Pro488Gln) c.1820C>A (p.Pro607Gln) c.1421C>A (p.Pro474Gln) c.1409C>A (p.Pro470Gln) c.1367C>A (p.Pro456Gln) c.1343C>A (p.Pro448Gln) c.1313C>A (p.Pro438Gln) c.1490C>A (p.Pro497Gln) c.1340C>A (p.Pro447Gln) | gnomAD v4 |
| 8 | g.143933222G>A | CA372581984 | PLEC | c.1525C>T (p.Pro509Ser) c.1444C>T (p.Pro482Ser) c.1111C>T (p.Pro371Ser) c.1324C>T (p.Pro442Ser) c.1393C>T (p.Pro465Ser) c.1474C>T (p.Pro492Ser) c.1804C>T (p.Pro602Ser) c.1327C>T (p.Pro443Ser) c.1351C>T (p.Pro451Ser) c.1405C>T (p.Pro469Ser) c.1297C>T (p.Pro433Ser) c.1462C>T (p.Pro488Ser) c.1819C>T (p.Pro607Ser) c.1420C>T (p.Pro474Ser) c.1408C>T (p.Pro470Ser) c.1366C>T (p.Pro456Ser) c.1342C>T (p.Pro448Ser) c.1312C>T (p.Pro438Ser) c.1489C>T (p.Pro497Ser) c.1339C>T (p.Pro447Ser) | dbSNP |
| 8 | g.143933222G>C | CA372581979 | PLEC | c.1525C>G (p.Pro509Ala) c.1444C>G (p.Pro482Ala) c.1111C>G (p.Pro371Ala) c.1324C>G (p.Pro442Ala) c.1393C>G (p.Pro465Ala) c.1474C>G (p.Pro492Ala) c.1804C>G (p.Pro602Ala) c.1327C>G (p.Pro443Ala) c.1351C>G (p.Pro451Ala) c.1405C>G (p.Pro469Ala) c.1297C>G (p.Pro433Ala) c.1462C>G (p.Pro488Ala) c.1819C>G (p.Pro607Ala) c.1420C>G (p.Pro474Ala) c.1408C>G (p.Pro470Ala) c.1366C>G (p.Pro456Ala) c.1342C>G (p.Pro448Ala) c.1312C>G (p.Pro438Ala) c.1489C>G (p.Pro497Ala) c.1339C>G (p.Pro447Ala) | |
| 8 | g.143933222G= | CA1826051282 | PLEC | c.1525C= (p.Pro509=) c.1444C= (p.Pro482=) c.1111C= (p.Pro371=) c.1324C= (p.Pro442=) c.1393C= (p.Pro465=) c.1474C= (p.Pro492=) c.1804C= (p.Pro602=) c.1327C= (p.Pro443=) c.1351C= (p.Pro451=) c.1405C= (p.Pro469=) c.1297C= (p.Pro433=) c.1462C= (p.Pro488=) c.1819C= (p.Pro607=) c.1420C= (p.Pro474=) c.1408C= (p.Pro470=) c.1366C= (p.Pro456=) c.1342C= (p.Pro448=) c.1312C= (p.Pro438=) c.1489C= (p.Pro497=) c.1339C= (p.Pro447=) | |
| 8 | g.143933222G>T | CA372581983 | PLEC | c.1525C>A (p.Pro509Thr) c.1444C>A (p.Pro482Thr) c.1111C>A (p.Pro371Thr) c.1324C>A (p.Pro442Thr) c.1393C>A (p.Pro465Thr) c.1474C>A (p.Pro492Thr) c.1804C>A (p.Pro602Thr) c.1327C>A (p.Pro443Thr) c.1351C>A (p.Pro451Thr) c.1405C>A (p.Pro469Thr) c.1297C>A (p.Pro433Thr) c.1462C>A (p.Pro488Thr) c.1819C>A (p.Pro607Thr) c.1420C>A (p.Pro474Thr) c.1408C>A (p.Pro470Thr) c.1366C>A (p.Pro456Thr) c.1342C>A (p.Pro448Thr) c.1312C>A (p.Pro438Thr) c.1489C>A (p.Pro497Thr) c.1339C>A (p.Pro447Thr) |