Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.36222851C>A | CA373426319 | CLTA,GNE | c.1652G>T (p.Cys551Phe) c.1382G>T (p.Cys461Phe) c.1559G>T (p.Cys520Phe) c.1411+522G>T (n.1411+522G>T) c.485+18672C>A (n.485+18672C>A) c.1229G>T (p.Cys410Phe) c.1544G>T (p.Cys515Phe) c.1499G>T (p.Cys500Phe) c.1406G>T (p.Cys469Phe) | |
9 | g.36222851C= | CA1846333393 | CLTA,GNE | c.1652G= (p.Cys551=) c.1382G= (p.Cys461=) c.1559G= (p.Cys520=) c.1411+522G= (n.1411+522G=) c.485+18672C= (n.485+18672C=) c.1229G= (p.Cys410=) c.1544G= (p.Cys515=) c.1499G= (p.Cys500=) c.1406G= (p.Cys469=) | |
9 | g.36222851C>G | CA373426318 | CLTA,GNE | c.1652G>C (p.Cys551Ser) c.1382G>C (p.Cys461Ser) c.1559G>C (p.Cys520Ser) c.1411+522G>C (n.1411+522G>C) c.485+18672C>G (n.485+18672C>G) c.1229G>C (p.Cys410Ser) c.1544G>C (p.Cys515Ser) c.1499G>C (p.Cys500Ser) c.1406G>C (p.Cys469Ser) | |
9 | g.36222851C>T | CA373426317 | CLTA,GNE | c.1652G>A (p.Cys551Tyr) c.1382G>A (p.Cys461Tyr) c.1559G>A (p.Cys520Tyr) c.1411+522G>A (n.1411+522G>A) c.485+18672C>T (n.485+18672C>T) c.1229G>A (p.Cys410Tyr) c.1544G>A (p.Cys515Tyr) c.1499G>A (p.Cys500Tyr) c.1406G>A (p.Cys469Tyr) | dbSNP |
9 | g.36222852A= | CA1846333398 | CLTA,GNE | c.1651T= (p.Cys551=) c.1381T= (p.Cys461=) c.1558T= (p.Cys520=) c.1411+521T= (n.1411+521T=) c.485+18673A= (n.485+18673A=) c.1228T= (p.Cys410=) c.1543T= (p.Cys515=) c.1498T= (p.Cys500=) c.1405T= (p.Cys469=) | |
9 | g.36222852A>C | CA192843505 | CLTA,GNE | c.1651T>G (p.Cys551Gly) c.1381T>G (p.Cys461Gly) c.1558T>G (p.Cys520Gly) c.1411+521T>G (n.1411+521T>G) c.485+18673A>C (n.485+18673A>C) c.1228T>G (p.Cys410Gly) c.1543T>G (p.Cys515Gly) c.1498T>G (p.Cys500Gly) c.1405T>G (p.Cys469Gly) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.36222852A>G | CA373426321 | CLTA,GNE | c.1651T>C (p.Cys551Arg) c.1381T>C (p.Cys461Arg) c.1558T>C (p.Cys520Arg) c.1411+521T>C (n.1411+521T>C) c.485+18673A>G (n.485+18673A>G) c.1228T>C (p.Cys410Arg) c.1543T>C (p.Cys515Arg) c.1498T>C (p.Cys500Arg) c.1405T>C (p.Cys469Arg) | dbSNP gnomAD v4 |
9 | g.36222852A>T | CA373426322 | CLTA,GNE | c.1651T>A (p.Cys551Ser) c.1381T>A (p.Cys461Ser) c.1558T>A (p.Cys520Ser) c.1411+521T>A (n.1411+521T>A) c.485+18673A>T (n.485+18673A>T) c.1228T>A (p.Cys410Ser) c.1543T>A (p.Cys515Ser) c.1498T>A (p.Cys500Ser) c.1405T>A (p.Cys469Ser) | |
9 | g.36222853G>A | CA464495195 | CLTA,GNE | c.1650C>T (p.Asn550=) c.1380C>T (p.Asn460=) c.1557C>T (p.Asn519=) c.1411+520C>T (n.1411+520C>T) c.485+18674G>A (n.485+18674G>A) c.1227C>T (p.Asn409=) c.1542C>T (p.Asn514=) c.1497C>T (p.Asn499=) c.1404C>T (p.Asn468=) | |
9 | g.36222853G>C | CA373426325 | CLTA,GNE | c.1650C>G (p.Asn550Lys) c.1380C>G (p.Asn460Lys) c.1557C>G (p.Asn519Lys) c.1411+520C>G (n.1411+520C>G) c.485+18674G>C (n.485+18674G>C) c.1227C>G (p.Asn409Lys) c.1542C>G (p.Asn514Lys) c.1497C>G (p.Asn499Lys) c.1404C>G (p.Asn468Lys) | |
9 | g.36222853G>T | CA373426326 | CLTA,GNE | c.1650C>A (p.Asn550Lys) c.1380C>A (p.Asn460Lys) c.1557C>A (p.Asn519Lys) c.1411+520C>A (n.1411+520C>A) c.485+18674G>T (n.485+18674G>T) c.1227C>A (p.Asn409Lys) c.1542C>A (p.Asn514Lys) c.1497C>A (p.Asn499Lys) c.1404C>A (p.Asn468Lys) | |
9 | g.36222854T>A | CA373426328 | CLTA,GNE | c.1649A>T (p.Asn550Ile) c.1379A>T (p.Asn460Ile) c.1556A>T (p.Asn519Ile) c.1411+519A>T (n.1411+519A>T) c.485+18675T>A (n.485+18675T>A) c.1226A>T (p.Asn409Ile) c.1541A>T (p.Asn514Ile) c.1496A>T (p.Asn499Ile) c.1403A>T (p.Asn468Ile) | |
9 | g.36222854T>C | CA373426330 | CLTA,GNE | c.1649A>G (p.Asn550Ser) c.1379A>G (p.Asn460Ser) c.1556A>G (p.Asn519Ser) c.1411+519A>G (n.1411+519A>G) c.485+18675T>C (n.485+18675T>C) c.1226A>G (p.Asn409Ser) c.1541A>G (p.Asn514Ser) c.1496A>G (p.Asn499Ser) c.1403A>G (p.Asn468Ser) | ClinVar dbSNP gnomAD v4 |
9 | g.36222854T>G | CA373426332 | CLTA,GNE | c.1649A>C (p.Asn550Thr) c.1379A>C (p.Asn460Thr) c.1556A>C (p.Asn519Thr) c.1411+519A>C (n.1411+519A>C) c.485+18675T>G (n.485+18675T>G) c.1226A>C (p.Asn409Thr) c.1541A>C (p.Asn514Thr) c.1496A>C (p.Asn499Thr) c.1403A>C (p.Asn468Thr) | |
9 | g.36222854T= | CA1846333402 | CLTA,GNE | c.1649A= (p.Asn550=) c.1379A= (p.Asn460=) c.1556A= (p.Asn519=) c.1411+519A= (n.1411+519A=) c.485+18675T= (n.485+18675T=) c.1226A= (p.Asn409=) c.1541A= (p.Asn514=) c.1496A= (p.Asn499=) c.1403A= (p.Asn468=) | |
9 | g.36222855T>A | CA373426333 | CLTA,GNE | c.1648A>T (p.Asn550Tyr) c.1378A>T (p.Asn460Tyr) c.1555A>T (p.Asn519Tyr) c.1411+518A>T (n.1411+518A>T) c.485+18676T>A (n.485+18676T>A) c.1225A>T (p.Asn409Tyr) c.1540A>T (p.Asn514Tyr) c.1495A>T (p.Asn499Tyr) c.1402A>T (p.Asn468Tyr) | |
9 | g.36222855T>C | CA373426334 | CLTA,GNE | c.1648A>G (p.Asn550Asp) c.1378A>G (p.Asn460Asp) c.1555A>G (p.Asn519Asp) c.1411+518A>G (n.1411+518A>G) c.485+18676T>C (n.485+18676T>C) c.1225A>G (p.Asn409Asp) c.1540A>G (p.Asn514Asp) c.1495A>G (p.Asn499Asp) c.1402A>G (p.Asn468Asp) | COSMIC COSMIC COSMIC |
9 | g.36222855T>G | CA373426336 | CLTA,GNE | c.1648A>C (p.Asn550His) c.1378A>C (p.Asn460His) c.1555A>C (p.Asn519His) c.1411+518A>C (n.1411+518A>C) c.485+18676T>G (n.485+18676T>G) c.1225A>C (p.Asn409His) c.1540A>C (p.Asn514His) c.1495A>C (p.Asn499His) c.1402A>C (p.Asn468His) | gnomAD v4 |
9 | g.36222856del | CA2783550242 | CLTA,GNE | c.1647del (p.Asn550ThrfsTer?) c.1377del (p.Asn460ThrfsTer?) c.1554del (p.Asn519ThrfsTer?) c.1411+517del (n.1411+517del) c.485+18677del (n.485+18677del) c.1224del (p.Asn409ThrfsTer?) c.1539del (p.Asn514ThrfsTer?) c.1494del (p.Asn499ThrfsTer?) c.1401del (p.Asn468ThrfsTer?) | |
9 | g.36222856G>A | CA464495196 | CLTA,GNE | c.1647C>T (p.Gly549=) c.1377C>T (p.Gly459=) c.1554C>T (p.Gly518=) c.1411+517C>T (n.1411+517C>T) c.485+18677G>A (n.485+18677G>A) c.1224C>T (p.Gly408=) c.1539C>T (p.Gly513=) c.1494C>T (p.Gly498=) c.1401C>T (p.Gly467=) | |
9 | g.36222856G>C | CA464495197 | CLTA,GNE | c.1647C>G (p.Gly549=) c.1377C>G (p.Gly459=) c.1554C>G (p.Gly518=) c.1411+517C>G (n.1411+517C>G) c.485+18677G>C (n.485+18677G>C) c.1224C>G (p.Gly408=) c.1539C>G (p.Gly513=) c.1494C>G (p.Gly498=) c.1401C>G (p.Gly467=) | gnomAD v4 |
9 | g.36222856G>T | CA464495198 | CLTA,GNE | c.1647C>A (p.Gly549=) c.1377C>A (p.Gly459=) c.1554C>A (p.Gly518=) c.1411+517C>A (n.1411+517C>A) c.485+18677G>T (n.485+18677G>T) c.1224C>A (p.Gly408=) c.1539C>A (p.Gly513=) c.1494C>A (p.Gly498=) c.1401C>A (p.Gly467=) | gnomAD v4 |
9 | g.36222857C>A | CA373426338 | CLTA,GNE | c.1646G>T (p.Gly549Val) c.1376G>T (p.Gly459Val) c.1553G>T (p.Gly518Val) c.1411+516G>T (n.1411+516G>T) c.485+18678C>A (n.485+18678C>A) c.1223G>T (p.Gly408Val) c.1538G>T (p.Gly513Val) c.1493G>T (p.Gly498Val) c.1400G>T (p.Gly467Val) | |
9 | g.36222857C>G | CA373426339 | CLTA,GNE | c.1646G>C (p.Gly549Ala) c.1376G>C (p.Gly459Ala) c.1553G>C (p.Gly518Ala) c.1411+516G>C (n.1411+516G>C) c.485+18678C>G (n.485+18678C>G) c.1223G>C (p.Gly408Ala) c.1538G>C (p.Gly513Ala) c.1493G>C (p.Gly498Ala) c.1400G>C (p.Gly467Ala) | |
9 | g.36222857C>T | CA373426341 | CLTA,GNE | c.1646G>A (p.Gly549Asp) c.1376G>A (p.Gly459Asp) c.1553G>A (p.Gly518Asp) c.1411+516G>A (n.1411+516G>A) c.485+18678C>T (n.485+18678C>T) c.1223G>A (p.Gly408Asp) c.1538G>A (p.Gly513Asp) c.1493G>A (p.Gly498Asp) c.1400G>A (p.Gly467Asp) | |
9 | g.36222858C>A | CA373426347 | CLTA,GNE | c.1645G>T (p.Gly549Cys) c.1375G>T (p.Gly459Cys) c.1552G>T (p.Gly518Cys) c.1411+515G>T (n.1411+515G>T) c.485+18679C>A (n.485+18679C>A) c.1222G>T (p.Gly408Cys) c.1537G>T (p.Gly513Cys) c.1492G>T (p.Gly498Cys) c.1399G>T (p.Gly467Cys) | |
9 | g.36222858C>G | CA373426344 | CLTA,GNE | c.1645G>C (p.Gly549Arg) c.1375G>C (p.Gly459Arg) c.1552G>C (p.Gly518Arg) c.1411+515G>C (n.1411+515G>C) c.485+18679C>G (n.485+18679C>G) c.1222G>C (p.Gly408Arg) c.1537G>C (p.Gly513Arg) c.1492G>C (p.Gly498Arg) c.1399G>C (p.Gly467Arg) | |
9 | g.36222858C>T | CA373426345 | CLTA,GNE | c.1645G>A (p.Gly549Ser) c.1375G>A (p.Gly459Ser) c.1552G>A (p.Gly518Ser) c.1411+515G>A (n.1411+515G>A) c.485+18679C>T (n.485+18679C>T) c.1222G>A (p.Gly408Ser) c.1537G>A (p.Gly513Ser) c.1492G>A (p.Gly498Ser) c.1399G>A (p.Gly467Ser) | |
9 | g.36222859A>C | CA373426350 | CLTA,GNE | c.1644T>G (p.Asp548Glu) c.1374T>G (p.Asp458Glu) c.1551T>G (p.Asp517Glu) c.1411+514T>G (n.1411+514T>G) c.485+18680A>C (n.485+18680A>C) c.1221T>G (p.Asp407Glu) c.1536T>G (p.Asp512Glu) c.1491T>G (p.Asp497Glu) c.1398T>G (p.Asp466Glu) | |
9 | g.36222859A>G | CA464495199 | CLTA,GNE | c.1644T>C (p.Asp548=) c.1374T>C (p.Asp458=) c.1551T>C (p.Asp517=) c.1411+514T>C (n.1411+514T>C) c.485+18680A>G (n.485+18680A>G) c.1221T>C (p.Asp407=) c.1536T>C (p.Asp512=) c.1491T>C (p.Asp497=) c.1398T>C (p.Asp466=) | gnomAD v4 |
9 | g.36222859A>T | CA373426351 | CLTA,GNE | c.1644T>A (p.Asp548Glu) c.1374T>A (p.Asp458Glu) c.1551T>A (p.Asp517Glu) c.1411+514T>A (n.1411+514T>A) c.485+18680A>T (n.485+18680A>T) c.1221T>A (p.Asp407Glu) c.1536T>A (p.Asp512Glu) c.1491T>A (p.Asp497Glu) c.1398T>A (p.Asp466Glu) | |
9 | g.36222860T>A | CA373426353 | CLTA,GNE | c.1643A>T (p.Asp548Val) c.1373A>T (p.Asp458Val) c.1550A>T (p.Asp517Val) c.1411+513A>T (n.1411+513A>T) c.485+18681T>A (n.485+18681T>A) c.1220A>T (p.Asp407Val) c.1535A>T (p.Asp512Val) c.1490A>T (p.Asp497Val) c.1397A>T (p.Asp466Val) | |
9 | g.36222860T>C | CA373426355 | CLTA,GNE | c.1643A>G (p.Asp548Gly) c.1373A>G (p.Asp458Gly) c.1550A>G (p.Asp517Gly) c.1411+513A>G (n.1411+513A>G) c.485+18681T>C (n.485+18681T>C) c.1220A>G (p.Asp407Gly) c.1535A>G (p.Asp512Gly) c.1490A>G (p.Asp497Gly) c.1397A>G (p.Asp466Gly) | |
9 | g.36222860T>G | CA373426356 | CLTA,GNE | c.1643A>C (p.Asp548Ala) c.1373A>C (p.Asp458Ala) c.1550A>C (p.Asp517Ala) c.1411+513A>C (n.1411+513A>C) c.485+18681T>G (n.485+18681T>G) c.1220A>C (p.Asp407Ala) c.1535A>C (p.Asp512Ala) c.1490A>C (p.Asp497Ala) c.1397A>C (p.Asp466Ala) | |
9 | g.36222861del | CA2689945670 | CLTA,GNE | c.1642del (p.Asp548MetfsTer?) c.1372del (p.Asp458MetfsTer?) c.1549del (p.Asp517MetfsTer?) c.1411+512del (n.1411+512del) c.485+18682del (n.485+18682del) c.1219del (p.Asp407MetfsTer?) c.1534del (p.Asp512MetfsTer?) c.1489del (p.Asp497MetfsTer?) c.1396del (p.Asp466MetfsTer?) | gnomAD v4 |
9 | g.36222861C>A | CA373426358 | CLTA,GNE | c.1642G>T (p.Asp548Tyr) c.1372G>T (p.Asp458Tyr) c.1549G>T (p.Asp517Tyr) c.1411+512G>T (n.1411+512G>T) c.485+18682C>A (n.485+18682C>A) c.1219G>T (p.Asp407Tyr) c.1534G>T (p.Asp512Tyr) c.1489G>T (p.Asp497Tyr) c.1396G>T (p.Asp466Tyr) | |
9 | g.36222861C>G | CA373426359 | CLTA,GNE | c.1642G>C (p.Asp548His) c.1372G>C (p.Asp458His) c.1549G>C (p.Asp517His) c.1411+512G>C (n.1411+512G>C) c.485+18682C>G (n.485+18682C>G) c.1219G>C (p.Asp407His) c.1534G>C (p.Asp512His) c.1489G>C (p.Asp497His) c.1396G>C (p.Asp466His) | |
9 | g.36222861C>T | CA373426361 | CLTA,GNE | c.1642G>A (p.Asp548Asn) c.1372G>A (p.Asp458Asn) c.1549G>A (p.Asp517Asn) c.1411+512G>A (n.1411+512G>A) c.485+18682C>T (n.485+18682C>T) c.1219G>A (p.Asp407Asn) c.1534G>A (p.Asp512Asn) c.1489G>A (p.Asp497Asn) c.1396G>A (p.Asp466Asn) | gnomAD v4 |
9 | g.36222862A= | CA1846333406 | CLTA,GNE | c.1641T= (p.Asn547=) c.1371T= (p.Asn457=) c.1548T= (p.Asn516=) c.1411+511T= (n.1411+511T=) c.485+18683A= (n.485+18683A=) c.1218T= (p.Asn406=) c.1533T= (p.Asn511=) c.1488T= (p.Asn496=) c.1395T= (p.Asn465=) | |
9 | g.36222862A>C | CA373426363 | CLTA,GNE | c.1641T>G (p.Asn547Lys) c.1371T>G (p.Asn457Lys) c.1548T>G (p.Asn516Lys) c.1411+511T>G (n.1411+511T>G) c.485+18683A>C (n.485+18683A>C) c.1218T>G (p.Asn406Lys) c.1533T>G (p.Asn511Lys) c.1488T>G (p.Asn496Lys) c.1395T>G (p.Asn465Lys) | |
9 | g.36222862A>G | CA464495200 | CLTA,GNE | c.1641T>C (p.Asn547=) c.1371T>C (p.Asn457=) c.1548T>C (p.Asn516=) c.1411+511T>C (n.1411+511T>C) c.485+18683A>G (n.485+18683A>G) c.1218T>C (p.Asn406=) c.1533T>C (p.Asn511=) c.1488T>C (p.Asn496=) c.1395T>C (p.Asn465=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36222862A>T | CA373426364 | CLTA,GNE | c.1641T>A (p.Asn547Lys) c.1371T>A (p.Asn457Lys) c.1548T>A (p.Asn516Lys) c.1411+511T>A (n.1411+511T>A) c.485+18683A>T (n.485+18683A>T) c.1218T>A (p.Asn406Lys) c.1533T>A (p.Asn511Lys) c.1488T>A (p.Asn496Lys) c.1395T>A (p.Asn465Lys) | |
9 | g.36222862_36222864delinsATT | CA1846333407 | CLTA,GNE | c.1639_1641delinsAAT (p.Asn547=) c.1369_1371delinsAAT (p.Asn457=) c.1546_1548delinsAAT (p.Asn516=) c.1411+509_1411+511delinsAAT (n.1411+509_1411+511delinsAAT) c.485+18683_485+18685delinsATT (n.485+18683_485+18685delinsATT) c.1216_1218delinsAAT (p.Asn406=) c.1531_1533delinsAAT (p.Asn511=) c.1486_1488delinsAAT (p.Asn496=) c.1393_1395delinsAAT (p.Asn465=) | |
9 | g.36222863T>A | CA373426365 | CLTA,GNE | c.1640A>T (p.Asn547Ile) c.1370A>T (p.Asn457Ile) c.1547A>T (p.Asn516Ile) c.1411+510A>T (n.1411+510A>T) c.485+18684T>A (n.485+18684T>A) c.1217A>T (p.Asn406Ile) c.1532A>T (p.Asn511Ile) c.1487A>T (p.Asn496Ile) c.1394A>T (p.Asn465Ile) | |
9 | g.36222863T>C | CA373426366 | CLTA,GNE | c.1640A>G (p.Asn547Ser) c.1370A>G (p.Asn457Ser) c.1547A>G (p.Asn516Ser) c.1411+510A>G (n.1411+510A>G) c.485+18684T>C (n.485+18684T>C) c.1217A>G (p.Asn406Ser) c.1532A>G (p.Asn511Ser) c.1487A>G (p.Asn496Ser) c.1394A>G (p.Asn465Ser) | gnomAD v4 |
9 | g.36222863T>G | CA373426367 | CLTA,GNE | c.1640A>C (p.Asn547Thr) c.1370A>C (p.Asn457Thr) c.1547A>C (p.Asn516Thr) c.1411+510A>C (n.1411+510A>C) c.485+18684T>G (n.485+18684T>G) c.1217A>C (p.Asn406Thr) c.1532A>C (p.Asn511Thr) c.1487A>C (p.Asn496Thr) c.1394A>C (p.Asn465Thr) | |
9 | g.36222863_36222864del | CA916083046 | CLTA,GNE | c.1639_1640del (p.Asn547Ter) c.1369_1370del (p.Asn457Ter) c.1546_1547del (p.Asn516Ter) c.1411+509_1411+510del (n.1411+509_1411+510del) c.485+18684_485+18685del (n.485+18684_485+18685del) c.1216_1217del (p.Asn406Ter) c.1531_1532del (p.Asn511Ter) c.1486_1487del (p.Asn496Ter) c.1393_1394del (p.Asn465Ter) | ClinVar dbSNP gnomAD v4 |
9 | g.36222864T>A | CA373426369 | CLTA,GNE | c.1639A>T (p.Asn547Tyr) c.1369A>T (p.Asn457Tyr) c.1546A>T (p.Asn516Tyr) c.1411+509A>T (n.1411+509A>T) c.485+18685T>A (n.485+18685T>A) c.1216A>T (p.Asn406Tyr) c.1531A>T (p.Asn511Tyr) c.1486A>T (p.Asn496Tyr) c.1393A>T (p.Asn465Tyr) | |
9 | g.36222864T>C | CA373426370 | CLTA,GNE | c.1639A>G (p.Asn547Asp) c.1369A>G (p.Asn457Asp) c.1546A>G (p.Asn516Asp) c.1411+509A>G (n.1411+509A>G) c.485+18685T>C (n.485+18685T>C) c.1216A>G (p.Asn406Asp) c.1531A>G (p.Asn511Asp) c.1486A>G (p.Asn496Asp) c.1393A>G (p.Asn465Asp) | |
9 | g.36222864T>G | CA373426368 | CLTA,GNE | c.1639A>C (p.Asn547His) c.1369A>C (p.Asn457His) c.1546A>C (p.Asn516His) c.1411+509A>C (n.1411+509A>C) c.485+18685T>G (n.485+18685T>G) c.1216A>C (p.Asn406His) c.1531A>C (p.Asn511His) c.1486A>C (p.Asn496His) c.1393A>C (p.Asn465His) | ClinVar dbSNP |
9 | g.36222864T= | CA1846333421 | CLTA,GNE | c.1639A= (p.Asn547=) c.1369A= (p.Asn457=) c.1546A= (p.Asn516=) c.1411+509A= (n.1411+509A=) c.485+18685T= (n.485+18685T=) c.1216A= (p.Asn406=) c.1531A= (p.Asn511=) c.1486A= (p.Asn496=) c.1393A= (p.Asn465=) | |
9 | g.36222865_36222868del | CA2689945671 | CLTA,GNE | c.1636_1639del (p.Asp546MetfsTer?) c.1366_1369del (p.Asp456MetfsTer?) c.1543_1546del (p.Asp515MetfsTer?) c.1411+506_1411+509del (n.1411+506_1411+509del) c.485+18686_485+18689del (n.485+18686_485+18689del) c.1213_1216del (p.Asp405MetfsTer?) c.1528_1531del (p.Asp510MetfsTer?) c.1483_1486del (p.Asp495MetfsTer?) c.1390_1393del (p.Asp464MetfsTer?) | gnomAD v4 |
9 | g.36222865G>A | CA5056468 | CLTA,GNE | c.1638C>T (p.Asp546=) c.1368C>T (p.Asp456=) c.1545C>T (p.Asp515=) c.1411+508C>T (n.1411+508C>T) c.485+18686G>A (n.485+18686G>A) c.1215C>T (p.Asp405=) c.1530C>T (p.Asp510=) c.1485C>T (p.Asp495=) c.1392C>T (p.Asp464=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36222865G>C | CA373426372 | CLTA,GNE | c.1638C>G (p.Asp546Glu) c.1368C>G (p.Asp456Glu) c.1545C>G (p.Asp515Glu) c.1411+508C>G (n.1411+508C>G) c.485+18686G>C (n.485+18686G>C) c.1215C>G (p.Asp405Glu) c.1530C>G (p.Asp510Glu) c.1485C>G (p.Asp495Glu) c.1392C>G (p.Asp464Glu) | |
9 | g.36222865G= | CA1846333429 | CLTA,GNE | c.1638C= (p.Asp546=) c.1368C= (p.Asp456=) c.1545C= (p.Asp515=) c.1411+508C= (n.1411+508C=) c.485+18686G= (n.485+18686G=) c.1215C= (p.Asp405=) c.1530C= (p.Asp510=) c.1485C= (p.Asp495=) c.1392C= (p.Asp464=) | |
9 | g.36222865G>T | CA373426371 | CLTA,GNE | c.1638C>A (p.Asp546Glu) c.1368C>A (p.Asp456Glu) c.1545C>A (p.Asp515Glu) c.1411+508C>A (n.1411+508C>A) c.485+18686G>T (n.485+18686G>T) c.1215C>A (p.Asp405Glu) c.1530C>A (p.Asp510Glu) c.1485C>A (p.Asp495Glu) c.1392C>A (p.Asp464Glu) | |
9 | g.36222865_36222867delinsGTC | CA1846333430 | CLTA,GNE | c.1636_1638delinsGAC (p.Asp546=) c.1366_1368delinsGAC (p.Asp456=) c.1543_1545delinsGAC (p.Asp515=) c.1411+506_1411+508delinsGAC (n.1411+506_1411+508delinsGAC) c.485+18686_485+18688delinsGTC (n.485+18686_485+18688delinsGTC) c.1213_1215delinsGAC (p.Asp405=) c.1528_1530delinsGAC (p.Asp510=) c.1483_1485delinsGAC (p.Asp495=) c.1390_1392delinsGAC (p.Asp464=) | |
9 | g.36222866T>A | CA373426374 | CLTA,GNE | c.1637A>T (p.Asp546Val) c.1367A>T (p.Asp456Val) c.1544A>T (p.Asp515Val) c.1411+507A>T (n.1411+507A>T) c.485+18687T>A (n.485+18687T>A) c.1214A>T (p.Asp405Val) c.1529A>T (p.Asp510Val) c.1484A>T (p.Asp495Val) c.1391A>T (p.Asp464Val) | |
9 | g.36222866T>C | CA373426376 | CLTA,GNE | c.1637A>G (p.Asp546Gly) c.1367A>G (p.Asp456Gly) c.1544A>G (p.Asp515Gly) c.1411+507A>G (n.1411+507A>G) c.485+18687T>C (n.485+18687T>C) c.1214A>G (p.Asp405Gly) c.1529A>G (p.Asp510Gly) c.1484A>G (p.Asp495Gly) c.1391A>G (p.Asp464Gly) | |
9 | g.36222866T>G | CA373426378 | CLTA,GNE | c.1637A>C (p.Asp546Ala) c.1367A>C (p.Asp456Ala) c.1544A>C (p.Asp515Ala) c.1411+507A>C (n.1411+507A>C) c.485+18687T>G (n.485+18687T>G) c.1214A>C (p.Asp405Ala) c.1529A>C (p.Asp510Ala) c.1484A>C (p.Asp495Ala) c.1391A>C (p.Asp464Ala) | |
9 | g.36222867_36222868del | CA16041311 | CLTA,GNE | c.1636_1637del (p.Asp546GlnfsTer2) c.1366_1367del (p.Asp456GlnfsTer2) c.1543_1544del (p.Asp515GlnfsTer2) c.1411+506_1411+507del (n.1411+506_1411+507del) c.485+18688_485+18689del (n.485+18688_485+18689del) c.1213_1214del (p.Asp405GlnfsTer2) c.1528_1529del (p.Asp510GlnfsTer2) c.1483_1484del (p.Asp495GlnfsTer2) c.1390_1391del (p.Asp464GlnfsTer2) | ClinVar dbSNP |
9 | g.36222866_36222869del | CA2695206256 | CLTA,GNE | c.1634_1637del (p.Val545AlafsTer?) c.1364_1367del (p.Val455AlafsTer?) c.1541_1544del (p.Val514AlafsTer?) c.1411+504_1411+507del (n.1411+504_1411+507del) c.485+18687_485+18690del (n.485+18687_485+18690del) c.1211_1214del (p.Val404AlafsTer?) c.1526_1529del (p.Val509AlafsTer?) c.1481_1484del (p.Val494AlafsTer?) c.1388_1391del (p.Val463AlafsTer?) | |
9 | g.36222867C>A | CA373426383 | CLTA,GNE | c.1636G>T (p.Asp546Tyr) c.1366G>T (p.Asp456Tyr) c.1543G>T (p.Asp515Tyr) c.1411+506G>T (n.1411+506G>T) c.485+18688C>A (n.485+18688C>A) c.1213G>T (p.Asp405Tyr) c.1528G>T (p.Asp510Tyr) c.1483G>T (p.Asp495Tyr) c.1390G>T (p.Asp464Tyr) | |
9 | g.36222867C>G | CA373426385 | CLTA,GNE | c.1636G>C (p.Asp546His) c.1366G>C (p.Asp456His) c.1543G>C (p.Asp515His) c.1411+506G>C (n.1411+506G>C) c.485+18688C>G (n.485+18688C>G) c.1213G>C (p.Asp405His) c.1528G>C (p.Asp510His) c.1483G>C (p.Asp495His) c.1390G>C (p.Asp464His) | |
9 | g.36222867C>T | CA373426386 | CLTA,GNE | c.1636G>A (p.Asp546Asn) c.1366G>A (p.Asp456Asn) c.1543G>A (p.Asp515Asn) c.1411+506G>A (n.1411+506G>A) c.485+18688C>T (n.485+18688C>T) c.1213G>A (p.Asp405Asn) c.1528G>A (p.Asp510Asn) c.1483G>A (p.Asp495Asn) c.1390G>A (p.Asp464Asn) | |
9 | g.36222868T>A | CA464495203 | CLTA,GNE | c.1635A>T (p.Val545=) c.1365A>T (p.Val455=) c.1542A>T (p.Val514=) c.1411+505A>T (n.1411+505A>T) c.485+18689T>A (n.485+18689T>A) c.1212A>T (p.Val404=) c.1527A>T (p.Val509=) c.1482A>T (p.Val494=) c.1389A>T (p.Val463=) | |
9 | g.36222868T>C | CA464495202 | CLTA,GNE | c.1635A>G (p.Val545=) c.1365A>G (p.Val455=) c.1542A>G (p.Val514=) c.1411+505A>G (n.1411+505A>G) c.485+18689T>C (n.485+18689T>C) c.1212A>G (p.Val404=) c.1527A>G (p.Val509=) c.1482A>G (p.Val494=) c.1389A>G (p.Val463=) | |
9 | g.36222868T>G | CA464495201 | CLTA,GNE | c.1635A>C (p.Val545=) c.1365A>C (p.Val455=) c.1542A>C (p.Val514=) c.1411+505A>C (n.1411+505A>C) c.485+18689T>G (n.485+18689T>G) c.1212A>C (p.Val404=) c.1527A>C (p.Val509=) c.1482A>C (p.Val494=) c.1389A>C (p.Val463=) | |
9 | g.36222868dup | CA2579338360 | CLTA,GNE | c.1635dup (p.Asp546ArgfsTer3) c.1365dup (p.Asp456ArgfsTer3) c.1542dup (p.Asp515ArgfsTer3) c.1411+505dup (n.1411+505dup) c.485+18689dup (n.485+18689dup) c.1212dup (p.Asp405ArgfsTer3) c.1527dup (p.Asp510ArgfsTer3) c.1482dup (p.Asp495ArgfsTer3) c.1389dup (p.Asp464ArgfsTer3) | ClinVar gnomAD v4 |
9 | g.36222869A= | CA1846333439 | CLTA,GNE | c.1634T= (p.Val545=) c.1364T= (p.Val455=) c.1541T= (p.Val514=) c.1411+504T= (n.1411+504T=) c.485+18690A= (n.485+18690A=) c.1211T= (p.Val404=) c.1526T= (p.Val509=) c.1481T= (p.Val494=) c.1388T= (p.Val463=) | |
9 | g.36222869A>C | CA373426388 | CLTA,GNE | c.1634T>G (p.Val545Gly) c.1364T>G (p.Val455Gly) c.1541T>G (p.Val514Gly) c.1411+504T>G (n.1411+504T>G) c.485+18690A>C (n.485+18690A>C) c.1211T>G (p.Val404Gly) c.1526T>G (p.Val509Gly) c.1481T>G (p.Val494Gly) c.1388T>G (p.Val463Gly) | |
9 | g.36222869A>G | CA373426390 | CLTA,GNE | c.1634T>C (p.Val545Ala) c.1364T>C (p.Val455Ala) c.1541T>C (p.Val514Ala) c.1411+504T>C (n.1411+504T>C) c.485+18690A>G (n.485+18690A>G) c.1211T>C (p.Val404Ala) c.1526T>C (p.Val509Ala) c.1481T>C (p.Val494Ala) c.1388T>C (p.Val463Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222869A>T | CA373426392 | CLTA,GNE | c.1634T>A (p.Val545Glu) c.1364T>A (p.Val455Glu) c.1541T>A (p.Val514Glu) c.1411+504T>A (n.1411+504T>A) c.485+18690A>T (n.485+18690A>T) c.1211T>A (p.Val404Glu) c.1526T>A (p.Val509Glu) c.1481T>A (p.Val494Glu) c.1388T>A (p.Val463Glu) | |
9 | g.36222870C>A | CA373426397 | CLTA,GNE | c.1633G>T (p.Val545Leu) c.1363G>T (p.Val455Leu) c.1540G>T (p.Val514Leu) c.1411+503G>T (n.1411+503G>T) c.485+18691C>A (n.485+18691C>A) c.1210G>T (p.Val404Leu) c.1525G>T (p.Val509Leu) c.1480G>T (p.Val494Leu) c.1387G>T (p.Val463Leu) | |
9 | g.36222870C>G | CA373426396 | CLTA,GNE | c.1633G>C (p.Val545Leu) c.1363G>C (p.Val455Leu) c.1540G>C (p.Val514Leu) c.1411+503G>C (n.1411+503G>C) c.485+18691C>G (n.485+18691C>G) c.1210G>C (p.Val404Leu) c.1525G>C (p.Val509Leu) c.1480G>C (p.Val494Leu) c.1387G>C (p.Val463Leu) | |
9 | g.36222870C>T | CA373426394 | CLTA,GNE | c.1633G>A (p.Val545Ile) c.1363G>A (p.Val455Ile) c.1540G>A (p.Val514Ile) c.1411+503G>A (n.1411+503G>A) c.485+18691C>T (n.485+18691C>T) c.1210G>A (p.Val404Ile) c.1525G>A (p.Val509Ile) c.1480G>A (p.Val494Ile) c.1387G>A (p.Val463Ile) | |
9 | g.36222871C>A | CA373426399 | CLTA,GNE | c.1632G>T (p.Trp544Cys) c.1362G>T (p.Trp454Cys) c.1539G>T (p.Trp513Cys) c.1411+502G>T (n.1411+502G>T) c.485+18692C>A (n.485+18692C>A) c.1209G>T (p.Trp403Cys) c.1524G>T (p.Trp508Cys) c.1479G>T (p.Trp493Cys) c.1386G>T (p.Trp462Cys) | |
9 | g.36222871C= | CA1846333443 | CLTA,GNE | c.1632G= (p.Trp544=) c.1362G= (p.Trp454=) c.1539G= (p.Trp513=) c.1411+502G= (n.1411+502G=) c.485+18692C= (n.485+18692C=) c.1209G= (p.Trp403=) c.1524G= (p.Trp508=) c.1479G= (p.Trp493=) c.1386G= (p.Trp462=) | |
9 | g.36222871C>G | CA373426401 | CLTA,GNE | c.1632G>C (p.Trp544Cys) c.1362G>C (p.Trp454Cys) c.1539G>C (p.Trp513Cys) c.1411+502G>C (n.1411+502G>C) c.485+18692C>G (n.485+18692C>G) c.1209G>C (p.Trp403Cys) c.1524G>C (p.Trp508Cys) c.1479G>C (p.Trp493Cys) c.1386G>C (p.Trp462Cys) | |
9 | g.36222871C>T | CA373426403 | CLTA,GNE | c.1632G>A (p.Trp544Ter) c.1362G>A (p.Trp454Ter) c.1539G>A (p.Trp513Ter) c.1411+502G>A (n.1411+502G>A) c.485+18692C>T (n.485+18692C>T) c.1209G>A (p.Trp403Ter) c.1524G>A (p.Trp508Ter) c.1479G>A (p.Trp493Ter) c.1386G>A (p.Trp462Ter) | ClinVar dbSNP gnomAD v4 |
9 | g.36222872C>A | CA373426404 | CLTA,GNE | c.1631G>T (p.Trp544Leu) c.1361G>T (p.Trp454Leu) c.1538G>T (p.Trp513Leu) c.1411+501G>T (n.1411+501G>T) c.485+18693C>A (n.485+18693C>A) c.1208G>T (p.Trp403Leu) c.1523G>T (p.Trp508Leu) c.1478G>T (p.Trp493Leu) c.1385G>T (p.Trp462Leu) | ClinVar dbSNP |
9 | g.36222872C>G | CA373426406 | CLTA,GNE | c.1631G>C (p.Trp544Ser) c.1361G>C (p.Trp454Ser) c.1538G>C (p.Trp513Ser) c.1411+501G>C (n.1411+501G>C) c.485+18693C>G (n.485+18693C>G) c.1208G>C (p.Trp403Ser) c.1523G>C (p.Trp508Ser) c.1478G>C (p.Trp493Ser) c.1385G>C (p.Trp462Ser) | |
9 | g.36222872C>T | CA373426408 | CLTA,GNE | c.1631G>A (p.Trp544Ter) c.1361G>A (p.Trp454Ter) c.1538G>A (p.Trp513Ter) c.1411+501G>A (n.1411+501G>A) c.485+18693C>T (n.485+18693C>T) c.1208G>A (p.Trp403Ter) c.1523G>A (p.Trp508Ter) c.1478G>A (p.Trp493Ter) c.1385G>A (p.Trp462Ter) | |
9 | g.36222873A>C | CA373426410 | CLTA,GNE | c.1630T>G (p.Trp544Gly) c.1360T>G (p.Trp454Gly) c.1537T>G (p.Trp513Gly) c.1411+500T>G (n.1411+500T>G) c.485+18694A>C (n.485+18694A>C) c.1207T>G (p.Trp403Gly) c.1522T>G (p.Trp508Gly) c.1477T>G (p.Trp493Gly) c.1384T>G (p.Trp462Gly) | |
9 | g.36222873A>G | CA373426411 | CLTA,GNE | c.1630T>C (p.Trp544Arg) c.1360T>C (p.Trp454Arg) c.1537T>C (p.Trp513Arg) c.1411+500T>C (n.1411+500T>C) c.485+18694A>G (n.485+18694A>G) c.1207T>C (p.Trp403Arg) c.1522T>C (p.Trp508Arg) c.1477T>C (p.Trp493Arg) c.1384T>C (p.Trp462Arg) | |
9 | g.36222873A>T | CA373426413 | CLTA,GNE | c.1630T>A (p.Trp544Arg) c.1360T>A (p.Trp454Arg) c.1537T>A (p.Trp513Arg) c.1411+500T>A (n.1411+500T>A) c.485+18694A>T (n.485+18694A>T) c.1207T>A (p.Trp403Arg) c.1522T>A (p.Trp508Arg) c.1477T>A (p.Trp493Arg) c.1384T>A (p.Trp462Arg) | |
9 | g.36222874C>A | CA464495206 | CLTA,GNE | c.1629G>T (p.Val543=) c.1359G>T (p.Val453=) c.1536G>T (p.Val512=) c.1411+499G>T (n.1411+499G>T) c.485+18695C>A (n.485+18695C>A) c.1206G>T (p.Val402=) c.1521G>T (p.Val507=) c.1476G>T (p.Val492=) c.1383G>T (p.Val461=) | |
9 | g.36222874C>G | CA464495204 | CLTA,GNE | c.1629G>C (p.Val543=) c.1359G>C (p.Val453=) c.1536G>C (p.Val512=) c.1411+499G>C (n.1411+499G>C) c.485+18695C>G (n.485+18695C>G) c.1206G>C (p.Val402=) c.1521G>C (p.Val507=) c.1476G>C (p.Val492=) c.1383G>C (p.Val461=) | |
9 | g.36222874C>T | CA464495205 | CLTA,GNE | c.1629G>A (p.Val543=) c.1359G>A (p.Val453=) c.1536G>A (p.Val512=) c.1411+499G>A (n.1411+499G>A) c.485+18695C>T (n.485+18695C>T) c.1206G>A (p.Val402=) c.1521G>A (p.Val507=) c.1476G>A (p.Val492=) c.1383G>A (p.Val461=) | gnomAD v4 |
9 | g.36222875A>C | CA373426415 | CLTA,GNE | c.1628T>G (p.Val543Gly) c.1358T>G (p.Val453Gly) c.1535T>G (p.Val512Gly) c.1411+498T>G (n.1411+498T>G) c.485+18696A>C (n.485+18696A>C) c.1205T>G (p.Val402Gly) c.1520T>G (p.Val507Gly) c.1475T>G (p.Val492Gly) c.1382T>G (p.Val461Gly) | |
9 | g.36222875A>G | CA373426416 | CLTA,GNE | c.1628T>C (p.Val543Ala) c.1358T>C (p.Val453Ala) c.1535T>C (p.Val512Ala) c.1411+498T>C (n.1411+498T>C) c.485+18696A>G (n.485+18696A>G) c.1205T>C (p.Val402Ala) c.1520T>C (p.Val507Ala) c.1475T>C (p.Val492Ala) c.1382T>C (p.Val461Ala) | |
9 | g.36222875A>T | CA373426418 | CLTA,GNE | c.1628T>A (p.Val543Glu) c.1358T>A (p.Val453Glu) c.1535T>A (p.Val512Glu) c.1411+498T>A (n.1411+498T>A) c.485+18696A>T (n.485+18696A>T) c.1205T>A (p.Val402Glu) c.1520T>A (p.Val507Glu) c.1475T>A (p.Val492Glu) c.1382T>A (p.Val461Glu) | |
9 | g.36222876C>A | CA373426423 | CLTA,GNE | c.1627G>T (p.Val543Leu) c.1357G>T (p.Val453Leu) c.1534G>T (p.Val512Leu) c.1411+497G>T (n.1411+497G>T) c.485+18697C>A (n.485+18697C>A) c.1204G>T (p.Val402Leu) c.1519G>T (p.Val507Leu) c.1474G>T (p.Val492Leu) c.1381G>T (p.Val461Leu) | ClinVar dbSNP gnomAD v4 |
9 | g.36222876C= | CA1846333449 | CLTA,GNE | c.1627G= (p.Val543=) c.1357G= (p.Val453=) c.1534G= (p.Val512=) c.1411+497G= (n.1411+497G=) c.485+18697C= (n.485+18697C=) c.1204G= (p.Val402=) c.1519G= (p.Val507=) c.1474G= (p.Val492=) c.1381G= (p.Val461=) | |
9 | g.36222876C>G | CA373426425 | CLTA,GNE | c.1627G>C (p.Val543Leu) c.1357G>C (p.Val453Leu) c.1534G>C (p.Val512Leu) c.1411+497G>C (n.1411+497G>C) c.485+18697C>G (n.485+18697C>G) c.1204G>C (p.Val402Leu) c.1519G>C (p.Val507Leu) c.1474G>C (p.Val492Leu) c.1381G>C (p.Val461Leu) | |
9 | g.36222876C>T | CA373426421 | CLTA,GNE | c.1627G>A (p.Val543Met) c.1357G>A (p.Val453Met) c.1534G>A (p.Val512Met) c.1411+497G>A (n.1411+497G>A) c.485+18697C>T (n.485+18697C>T) c.1204G>A (p.Val402Met) c.1519G>A (p.Val507Met) c.1474G>A (p.Val492Met) c.1381G>A (p.Val461Met) | dbSNP gnomAD v4 |
9 | g.36222877A= | CA1846333461 | CLTA,GNE | c.1626T= (p.Pro542=) c.1356T= (p.Pro452=) c.1533T= (p.Pro511=) c.1411+496T= (n.1411+496T=) c.485+18698A= (n.485+18698A=) c.1203T= (p.Pro401=) c.1518T= (p.Pro506=) c.1473T= (p.Pro491=) c.1380T= (p.Pro460=) | |
9 | g.36222877A>C | CA464495207 | CLTA,GNE | c.1626T>G (p.Pro542=) c.1356T>G (p.Pro452=) c.1533T>G (p.Pro511=) c.1411+496T>G (n.1411+496T>G) c.485+18698A>C (n.485+18698A>C) c.1203T>G (p.Pro401=) c.1518T>G (p.Pro506=) c.1473T>G (p.Pro491=) c.1380T>G (p.Pro460=) | |
9 | g.36222877A>G | CA464495208 | CLTA,GNE | c.1626T>C (p.Pro542=) c.1356T>C (p.Pro452=) c.1533T>C (p.Pro511=) c.1411+496T>C (n.1411+496T>C) c.485+18698A>G (n.485+18698A>G) c.1203T>C (p.Pro401=) c.1518T>C (p.Pro506=) c.1473T>C (p.Pro491=) c.1380T>C (p.Pro460=) | |
9 | g.36222877A>T | CA464495209 | CLTA,GNE | c.1626T>A (p.Pro542=) c.1356T>A (p.Pro452=) c.1533T>A (p.Pro511=) c.1411+496T>A (n.1411+496T>A) c.485+18698A>T (n.485+18698A>T) c.1203T>A (p.Pro401=) c.1518T>A (p.Pro506=) c.1473T>A (p.Pro491=) c.1380T>A (p.Pro460=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222877_36222878del | CA2579338370 | CLTA,GNE | c.1625_1626del (p.Pro542ArgfsTer6) c.1355_1356del (p.Pro452ArgfsTer6) c.1532_1533del (p.Pro511ArgfsTer6) c.1411+495_1411+496del (n.1411+495_1411+496del) c.485+18698_485+18699del (n.485+18698_485+18699del) c.1202_1203del (p.Pro401ArgfsTer6) c.1517_1518del (p.Pro506ArgfsTer6) c.1472_1473del (p.Pro491ArgfsTer6) c.1379_1380del (p.Pro460ArgfsTer6) | gnomAD v4 |
9 | g.36222877_36222878delinsAG | CA1846333457 | CLTA,GNE | c.1625_1626delinsCT (p.Pro542=) c.1355_1356delinsCT (p.Pro452=) c.1532_1533delinsCT (p.Pro511=) c.1411+495_1411+496delinsCT (n.1411+495_1411+496delinsCT) c.485+18698_485+18699delinsAG (n.485+18698_485+18699delinsAG) c.1202_1203delinsCT (p.Pro401=) c.1517_1518delinsCT (p.Pro506=) c.1472_1473delinsCT (p.Pro491=) c.1379_1380delinsCT (p.Pro460=) | |
9 | g.36222877_36222878delinsTT | CA1846333458 | CLTA,GNE | c.1625_1626delinsAA (p.Pro542Gln) c.1355_1356delinsAA (p.Pro452Gln) c.1532_1533delinsAA (p.Pro511Gln) c.1411+495_1411+496delinsAA (n.1411+495_1411+496delinsAA) c.485+18698_485+18699delinsTT (n.485+18698_485+18699delinsTT) c.1202_1203delinsAA (p.Pro401Gln) c.1517_1518delinsAA (p.Pro506Gln) c.1472_1473delinsAA (p.Pro491Gln) c.1379_1380delinsAA (p.Pro460Gln) | ClinVar dbSNP |
9 | g.36222878G>A | CA373426428 | CLTA,GNE | c.1625C>T (p.Pro542Leu) c.1355C>T (p.Pro452Leu) c.1532C>T (p.Pro511Leu) c.1411+495C>T (n.1411+495C>T) c.485+18699G>A (n.485+18699G>A) c.1202C>T (p.Pro401Leu) c.1517C>T (p.Pro506Leu) c.1472C>T (p.Pro491Leu) c.1379C>T (p.Pro460Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222878G>C | CA373426430 | CLTA,GNE | c.1625C>G (p.Pro542Arg) c.1355C>G (p.Pro452Arg) c.1532C>G (p.Pro511Arg) c.1411+495C>G (n.1411+495C>G) c.485+18699G>C (n.485+18699G>C) c.1202C>G (p.Pro401Arg) c.1517C>G (p.Pro506Arg) c.1472C>G (p.Pro491Arg) c.1379C>G (p.Pro460Arg) | |
9 | g.36222878G= | CA1846333472 | CLTA,GNE | c.1625C= (p.Pro542=) c.1355C= (p.Pro452=) c.1532C= (p.Pro511=) c.1411+495C= (n.1411+495C=) c.485+18699G= (n.485+18699G=) c.1202C= (p.Pro401=) c.1517C= (p.Pro506=) c.1472C= (p.Pro491=) c.1379C= (p.Pro460=) | |
9 | g.36222878G>T | CA373426432 | CLTA,GNE | c.1625C>A (p.Pro542His) c.1355C>A (p.Pro452His) c.1532C>A (p.Pro511His) c.1411+495C>A (n.1411+495C>A) c.485+18699G>T (n.485+18699G>T) c.1202C>A (p.Pro401His) c.1517C>A (p.Pro506His) c.1472C>A (p.Pro491His) c.1379C>A (p.Pro460His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222879G>A | CA192843515 | CLTA,GNE | c.1624C>T (p.Pro542Ser) c.1354C>T (p.Pro452Ser) c.1531C>T (p.Pro511Ser) c.1411+494C>T (n.1411+494C>T) c.485+18700G>A (n.485+18700G>A) c.1201C>T (p.Pro401Ser) c.1516C>T (p.Pro506Ser) c.1471C>T (p.Pro491Ser) c.1378C>T (p.Pro460Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.36222879G>C | CA373426437 | CLTA,GNE | c.1624C>G (p.Pro542Ala) c.1354C>G (p.Pro452Ala) c.1531C>G (p.Pro511Ala) c.1411+494C>G (n.1411+494C>G) c.485+18700G>C (n.485+18700G>C) c.1201C>G (p.Pro401Ala) c.1516C>G (p.Pro506Ala) c.1471C>G (p.Pro491Ala) c.1378C>G (p.Pro460Ala) | |
9 | g.36222879G= | CA1846333486 | CLTA,GNE | c.1624C= (p.Pro542=) c.1354C= (p.Pro452=) c.1531C= (p.Pro511=) c.1411+494C= (n.1411+494C=) c.485+18700G= (n.485+18700G=) c.1201C= (p.Pro401=) c.1516C= (p.Pro506=) c.1471C= (p.Pro491=) c.1378C= (p.Pro460=) | |
9 | g.36222879G>T | CA373426438 | CLTA,GNE | c.1624C>A (p.Pro542Thr) c.1354C>A (p.Pro452Thr) c.1531C>A (p.Pro511Thr) c.1411+494C>A (n.1411+494C>A) c.485+18700G>T (n.485+18700G>T) c.1201C>A (p.Pro401Thr) c.1516C>A (p.Pro506Thr) c.1471C>A (p.Pro491Thr) c.1378C>A (p.Pro460Thr) | |
9 | g.36222880G>A | CA464495211 | CLTA,GNE | c.1623C>T (p.Leu541=) c.1353C>T (p.Leu451=) c.1530C>T (p.Leu510=) c.1411+493C>T (n.1411+493C>T) c.485+18701G>A (n.485+18701G>A) c.1200C>T (p.Leu400=) c.1515C>T (p.Leu505=) c.1470C>T (p.Leu490=) c.1377C>T (p.Leu459=) | |
9 | g.36222880G>C | CA464495210 | CLTA,GNE | c.1623C>G (p.Leu541=) c.1353C>G (p.Leu451=) c.1530C>G (p.Leu510=) c.1411+493C>G (n.1411+493C>G) c.485+18701G>C (n.485+18701G>C) c.1200C>G (p.Leu400=) c.1515C>G (p.Leu505=) c.1470C>G (p.Leu490=) c.1377C>G (p.Leu459=) | |
9 | g.36222880G= | CA1846333495 | CLTA,GNE | c.1623C= (p.Leu541=) c.1353C= (p.Leu451=) c.1530C= (p.Leu510=) c.1411+493C= (n.1411+493C=) c.485+18701G= (n.485+18701G=) c.1200C= (p.Leu400=) c.1515C= (p.Leu505=) c.1470C= (p.Leu490=) c.1377C= (p.Leu459=) | |
9 | g.36222880G>T | CA5056469 | CLTA,GNE | c.1623C>A (p.Leu541=) c.1353C>A (p.Leu451=) c.1530C>A (p.Leu510=) c.1411+493C>A (n.1411+493C>A) c.485+18701G>T (n.485+18701G>T) c.1200C>A (p.Leu400=) c.1515C>A (p.Leu505=) c.1470C>A (p.Leu490=) c.1377C>A (p.Leu459=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36222880_36222883delinsGAGA | CA1846333497 | CLTA,GNE | c.1620_1623delinsTCTC (p.His540=) c.1350_1353delinsTCTC (p.His450=) c.1527_1530delinsTCTC (p.His509=) c.1411+490_1411+493delinsTCTC (n.1411+490_1411+493delinsTCTC) c.485+18701_485+18704delinsGAGA (n.485+18701_485+18704delinsGAGA) c.1197_1200delinsTCTC (p.His399=) c.1512_1515delinsTCTC (p.His504=) c.1467_1470delinsTCTC (p.His489=) c.1374_1377delinsTCTC (p.His458=) | |
9 | g.36222880_36222910delinsGAGATGCAAAGTGTCAGAAAGGGGGGTCCTA | CA1846333496 | CLTA,GNE | c.1593_1623delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu531=) c.1323_1353delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu441=) c.1500_1530delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu500=) c.1411+463_1411+493delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (n.1411+463_1411+493delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC) c.485+18701_485+18731delinsGAGATGCAAAGTGTCAGAAAGGGGGGTCCTA (n.485+18701_485+18731delinsGAGATGCAAAGTGTCAGAAAGGGGGGTCCTA) c.1170_1200delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu390=) c.1485_1515delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu495=) c.1440_1470delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu480=) c.1347_1377delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu449=) | |
9 | g.36222881A= | CA1846333509 | CLTA,GNE | c.1622T= (p.Leu541=) c.1352T= (p.Leu451=) c.1529T= (p.Leu510=) c.1411+492T= (n.1411+492T=) c.485+18702A= (n.485+18702A=) c.1199T= (p.Leu400=) c.1514T= (p.Leu505=) c.1469T= (p.Leu490=) c.1376T= (p.Leu459=) | |
9 | g.36222881A>C | CA373426442 | CLTA,GNE | c.1622T>G (p.Leu541Arg) c.1352T>G (p.Leu451Arg) c.1529T>G (p.Leu510Arg) c.1411+492T>G (n.1411+492T>G) c.485+18702A>C (n.485+18702A>C) c.1199T>G (p.Leu400Arg) c.1514T>G (p.Leu505Arg) c.1469T>G (p.Leu490Arg) c.1376T>G (p.Leu459Arg) | |
9 | g.36222881A>G | CA373426444 | CLTA,GNE | c.1622T>C (p.Leu541Pro) c.1352T>C (p.Leu451Pro) c.1529T>C (p.Leu510Pro) c.1411+492T>C (n.1411+492T>C) c.485+18702A>G (n.485+18702A>G) c.1199T>C (p.Leu400Pro) c.1514T>C (p.Leu505Pro) c.1469T>C (p.Leu490Pro) c.1376T>C (p.Leu459Pro) | |
9 | g.36222881A>T | CA373426446 | CLTA,GNE | c.1622T>A (p.Leu541His) c.1352T>A (p.Leu451His) c.1529T>A (p.Leu510His) c.1411+492T>A (n.1411+492T>A) c.485+18702A>T (n.485+18702A>T) c.1199T>A (p.Leu400His) c.1514T>A (p.Leu505His) c.1469T>A (p.Leu490His) c.1376T>A (p.Leu459His) | |
9 | g.36222881_36222883del | CA588147071 | CLTA,GNE | c.1620_1622del (p.Leu541del) c.1350_1352del (p.Leu451del) c.1527_1529del (p.Leu510del) c.1411+490_1411+492del (n.1411+490_1411+492del) c.485+18702_485+18704del (n.485+18702_485+18704del) c.1197_1199del (p.Leu400del) c.1512_1514del (p.Leu505del) c.1467_1469del (p.Leu490del) c.1374_1376del (p.Leu459del) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36222881_36222910delinsT | CA645369446 | CLTA,GNE | c.1593_1622delinsA (p.Arg532ProfsTer7) c.1323_1352delinsA (p.Arg442ProfsTer7) c.1500_1529delinsA (p.Arg501ProfsTer7) c.1411+463_1411+492delinsA (n.1411+463_1411+492delinsA) c.485+18702_485+18731delinsT (n.485+18702_485+18731delinsT) c.1170_1199delinsA (p.Arg391ProfsTer7) c.1485_1514delinsA (p.Arg496ProfsTer7) c.1440_1469delinsA (p.Arg481ProfsTer7) c.1347_1376delinsA (p.Arg450ProfsTer7) | ClinVar dbSNP |
9 | g.36222882_36222910del | CA2573144642 | CLTA,GNE | c.1594_1622del (p.Arg532ProfsTer7) c.1324_1352del (p.Arg442ProfsTer7) c.1501_1529del (p.Arg501ProfsTer7) c.1411+464_1411+492del (n.1411+464_1411+492del) c.485+18703_485+18731del (n.485+18703_485+18731del) c.1171_1199del (p.Arg391ProfsTer7) c.1486_1514del (p.Arg496ProfsTer7) c.1441_1469del (p.Arg481ProfsTer7) c.1348_1376del (p.Arg450ProfsTer7) | ClinVar dbSNP |
9 | g.36222881_36222882insT | CA918447924 | CLTA,GNE | c.1621_1622insA (p.Leu541HisfsTer8) c.1351_1352insA (p.Leu451HisfsTer8) c.1528_1529insA (p.Leu510HisfsTer8) c.1411+491_1411+492insA (n.1411+491_1411+492insA) c.485+18702_485+18703insT (n.485+18702_485+18703insT) c.1198_1199insA (p.Leu400HisfsTer8) c.1513_1514insA (p.Leu505HisfsTer8) c.1468_1469insA (p.Leu490HisfsTer8) c.1375_1376insA (p.Leu459HisfsTer8) | dbSNP |
9 | g.36222882G>A | CA373426448 | CLTA,GNE | c.1621C>T (p.Leu541Phe) c.1351C>T (p.Leu451Phe) c.1528C>T (p.Leu510Phe) c.1411+491C>T (n.1411+491C>T) c.485+18703G>A (n.485+18703G>A) c.1198C>T (p.Leu400Phe) c.1513C>T (p.Leu505Phe) c.1468C>T (p.Leu490Phe) c.1375C>T (p.Leu459Phe) | |
9 | g.36222882G>C | CA373426451 | CLTA,GNE | c.1621C>G (p.Leu541Val) c.1351C>G (p.Leu451Val) c.1528C>G (p.Leu510Val) c.1411+491C>G (n.1411+491C>G) c.485+18703G>C (n.485+18703G>C) c.1198C>G (p.Leu400Val) c.1513C>G (p.Leu505Val) c.1468C>G (p.Leu490Val) c.1375C>G (p.Leu459Val) | |
9 | g.36222882G>T | CA373426452 | CLTA,GNE | c.1621C>A (p.Leu541Ile) c.1351C>A (p.Leu451Ile) c.1528C>A (p.Leu510Ile) c.1411+491C>A (n.1411+491C>A) c.485+18703G>T (n.485+18703G>T) c.1198C>A (p.Leu400Ile) c.1513C>A (p.Leu505Ile) c.1468C>A (p.Leu490Ile) c.1375C>A (p.Leu459Ile) | |
9 | g.36222883A>C | CA373426455 | CLTA,GNE | c.1620T>G (p.His540Gln) c.1350T>G (p.His450Gln) c.1527T>G (p.His509Gln) c.1411+490T>G (n.1411+490T>G) c.485+18704A>C (n.485+18704A>C) c.1197T>G (p.His399Gln) c.1512T>G (p.His504Gln) c.1467T>G (p.His489Gln) c.1374T>G (p.His458Gln) | |
9 | g.36222883A>G | CA464495212 | CLTA,GNE | c.1620T>C (p.His540=) c.1350T>C (p.His450=) c.1527T>C (p.His509=) c.1411+490T>C (n.1411+490T>C) c.485+18704A>G (n.485+18704A>G) c.1197T>C (p.His399=) c.1512T>C (p.His504=) c.1467T>C (p.His489=) c.1374T>C (p.His458=) | |
9 | g.36222883A>T | CA373426453 | CLTA,GNE | c.1620T>A (p.His540Gln) c.1350T>A (p.His450Gln) c.1527T>A (p.His509Gln) c.1411+490T>A (n.1411+490T>A) c.485+18704A>T (n.485+18704A>T) c.1197T>A (p.His399Gln) c.1512T>A (p.His504Gln) c.1467T>A (p.His489Gln) c.1374T>A (p.His458Gln) | |
9 | g.36222884T>A | CA373426457 | CLTA,GNE | c.1619A>T (p.His540Leu) c.1349A>T (p.His450Leu) c.1526A>T (p.His509Leu) c.1411+489A>T (n.1411+489A>T) c.485+18705T>A (n.485+18705T>A) c.1196A>T (p.His399Leu) c.1511A>T (p.His504Leu) c.1466A>T (p.His489Leu) c.1373A>T (p.His458Leu) | |
9 | g.36222884T>C | CA5056470 | CLTA,GNE | c.1619A>G (p.His540Arg) c.1349A>G (p.His450Arg) c.1526A>G (p.His509Arg) c.1411+489A>G (n.1411+489A>G) c.485+18705T>C (n.485+18705T>C) c.1196A>G (p.His399Arg) c.1511A>G (p.His504Arg) c.1466A>G (p.His489Arg) c.1373A>G (p.His458Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36222884T>G | CA373426459 | CLTA,GNE | c.1619A>C (p.His540Pro) c.1349A>C (p.His450Pro) c.1526A>C (p.His509Pro) c.1411+489A>C (n.1411+489A>C) c.485+18705T>G (n.485+18705T>G) c.1196A>C (p.His399Pro) c.1511A>C (p.His504Pro) c.1466A>C (p.His489Pro) c.1373A>C (p.His458Pro) | ClinVar dbSNP |
9 | g.36222884T= | CA1846333518 | CLTA,GNE | c.1619A= (p.His540=) c.1349A= (p.His450=) c.1526A= (p.His509=) c.1411+489A= (n.1411+489A=) c.485+18705T= (n.485+18705T=) c.1196A= (p.His399=) c.1511A= (p.His504=) c.1466A= (p.His489=) c.1373A= (p.His458=) | |
9 | g.36222884_36222910delinsTGCAAAGTGTCAGAAAGGGGGGTCCTA | CA1846333519 | CLTA,GNE | c.1593_1619delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu531=) c.1323_1349delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu441=) c.1500_1526delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu500=) c.1411+463_1411+489delinsTAGGACCCCCCTTTCTGACACTTTGCA (n.1411+463_1411+489delinsTAGGACCCCCCTTTCTGACACTTTGCA) c.485+18705_485+18731delinsTGCAAAGTGTCAGAAAGGGGGGTCCTA (n.485+18705_485+18731delinsTGCAAAGTGTCAGAAAGGGGGGTCCTA) c.1170_1196delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu390=) c.1485_1511delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu495=) c.1440_1466delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu480=) c.1347_1373delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu449=) | |
9 | g.36222885G>A | CA5056471 | CLTA,GNE | c.1618C>T (p.His540Tyr) c.1348C>T (p.His450Tyr) c.1525C>T (p.His509Tyr) c.1411+488C>T (n.1411+488C>T) c.485+18706G>A (n.485+18706G>A) c.1195C>T (p.His399Tyr) c.1510C>T (p.His504Tyr) c.1465C>T (p.His489Tyr) c.1372C>T (p.His458Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36222885G>C | CA373426464 | CLTA,GNE | c.1618C>G (p.His540Asp) c.1348C>G (p.His450Asp) c.1525C>G (p.His509Asp) c.1411+488C>G (n.1411+488C>G) c.485+18706G>C (n.485+18706G>C) c.1195C>G (p.His399Asp) c.1510C>G (p.His504Asp) c.1465C>G (p.His489Asp) c.1372C>G (p.His458Asp) | |
9 | g.36222885G= | CA1846333536 | CLTA,GNE | c.1618C= (p.His540=) c.1348C= (p.His450=) c.1525C= (p.His509=) c.1411+488C= (n.1411+488C=) c.485+18706G= (n.485+18706G=) c.1195C= (p.His399=) c.1510C= (p.His504=) c.1465C= (p.His489=) c.1372C= (p.His458=) | |
9 | g.36222885G>T | CA373426466 | CLTA,GNE | c.1618C>A (p.His540Asn) c.1348C>A (p.His450Asn) c.1525C>A (p.His509Asn) c.1411+488C>A (n.1411+488C>A) c.485+18706G>T (n.485+18706G>T) c.1195C>A (p.His399Asn) c.1510C>A (p.His504Asn) c.1465C>A (p.His489Asn) c.1372C>A (p.His458Asn) | |
9 | g.36222885_36222910del | CA588147072 | CLTA,GNE | c.1593_1618del (p.Arg532SerfsTer8) c.1323_1348del (p.Arg442SerfsTer8) c.1500_1525del (p.Arg501SerfsTer8) c.1411+463_1411+488del (n.1411+463_1411+488del) c.485+18706_485+18731del (n.485+18706_485+18731del) c.1170_1195del (p.Arg391SerfsTer8) c.1485_1510del (p.Arg496SerfsTer8) c.1440_1465del (p.Arg481SerfsTer8) c.1347_1372del (p.Arg450SerfsTer8) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36222886C>A | CA192843543 | CLTA,GNE | c.1617G>T (p.Leu539Phe) c.1347G>T (p.Leu449Phe) c.1524G>T (p.Leu508Phe) c.1411+487G>T (n.1411+487G>T) c.485+18707C>A (n.485+18707C>A) c.1194G>T (p.Leu398Phe) c.1509G>T (p.Leu503Phe) c.1464G>T (p.Leu488Phe) c.1371G>T (p.Leu457Phe) | dbSNP |
9 | g.36222886C= | CA1846333540 | CLTA,GNE | c.1617G= (p.Leu539=) c.1347G= (p.Leu449=) c.1524G= (p.Leu508=) c.1411+487G= (n.1411+487G=) c.485+18707C= (n.485+18707C=) c.1194G= (p.Leu398=) c.1509G= (p.Leu503=) c.1464G= (p.Leu488=) c.1371G= (p.Leu457=) | |
9 | g.36222886C>G | CA373426469 | CLTA,GNE | c.1617G>C (p.Leu539Phe) c.1347G>C (p.Leu449Phe) c.1524G>C (p.Leu508Phe) c.1411+487G>C (n.1411+487G>C) c.485+18707C>G (n.485+18707C>G) c.1194G>C (p.Leu398Phe) c.1509G>C (p.Leu503Phe) c.1464G>C (p.Leu488Phe) c.1371G>C (p.Leu457Phe) | |
9 | g.36222886C>T | CA464495213 | CLTA,GNE | c.1617G>A (p.Leu539=) c.1347G>A (p.Leu449=) c.1524G>A (p.Leu508=) c.1411+487G>A (n.1411+487G>A) c.485+18707C>T (n.485+18707C>T) c.1194G>A (p.Leu398=) c.1509G>A (p.Leu503=) c.1464G>A (p.Leu488=) c.1371G>A (p.Leu457=) | |
9 | g.36222887A= | CA1846333545 | CLTA,GNE | c.1616T= (p.Leu539=) c.1346T= (p.Leu449=) c.1523T= (p.Leu508=) c.1411+486T= (n.1411+486T=) c.485+18708A= (n.485+18708A=) c.1193T= (p.Leu398=) c.1508T= (p.Leu503=) c.1463T= (p.Leu488=) c.1370T= (p.Leu457=) | |
9 | g.36222887A>C | CA373426471 | CLTA,GNE | c.1616T>G (p.Leu539Trp) c.1346T>G (p.Leu449Trp) c.1523T>G (p.Leu508Trp) c.1411+486T>G (n.1411+486T>G) c.485+18708A>C (n.485+18708A>C) c.1193T>G (p.Leu398Trp) c.1508T>G (p.Leu503Trp) c.1463T>G (p.Leu488Trp) c.1370T>G (p.Leu457Trp) | |
9 | g.36222887A>G | CA16041312 | CLTA,GNE | c.1616T>C (p.Leu539Ser) c.1346T>C (p.Leu449Ser) c.1523T>C (p.Leu508Ser) c.1411+486T>C (n.1411+486T>C) c.485+18708A>G (n.485+18708A>G) c.1193T>C (p.Leu398Ser) c.1508T>C (p.Leu503Ser) c.1463T>C (p.Leu488Ser) c.1370T>C (p.Leu457Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222887A>T | CA373426475 | CLTA,GNE | c.1616T>A (p.Leu539Ter) c.1346T>A (p.Leu449Ter) c.1523T>A (p.Leu508Ter) c.1411+486T>A (n.1411+486T>A) c.485+18708A>T (n.485+18708A>T) c.1193T>A (p.Leu398Ter) c.1508T>A (p.Leu503Ter) c.1463T>A (p.Leu488Ter) c.1370T>A (p.Leu457Ter) | |
9 | g.36222888A>C | CA373426476 | CLTA,GNE | c.1615T>G (p.Leu539Val) c.1345T>G (p.Leu449Val) c.1522T>G (p.Leu508Val) c.1411+485T>G (n.1411+485T>G) c.485+18709A>C (n.485+18709A>C) c.1192T>G (p.Leu398Val) c.1507T>G (p.Leu503Val) c.1462T>G (p.Leu488Val) c.1369T>G (p.Leu457Val) | |
9 | g.36222888A>G | CA464495214 | CLTA,GNE | c.1615T>C (p.Leu539=) c.1345T>C (p.Leu449=) c.1522T>C (p.Leu508=) c.1411+485T>C (n.1411+485T>C) c.485+18709A>G (n.485+18709A>G) c.1192T>C (p.Leu398=) c.1507T>C (p.Leu503=) c.1462T>C (p.Leu488=) c.1369T>C (p.Leu457=) | ClinVar dbSNP |
9 | g.36222888A>T | CA373426479 | CLTA,GNE | c.1615T>A (p.Leu539Met) c.1345T>A (p.Leu449Met) c.1522T>A (p.Leu508Met) c.1411+485T>A (n.1411+485T>A) c.485+18709A>T (n.485+18709A>T) c.1192T>A (p.Leu398Met) c.1507T>A (p.Leu503Met) c.1462T>A (p.Leu488Met) c.1369T>A (p.Leu457Met) | |
9 | g.36222889A>C | CA464495215 | CLTA,GNE | c.1614T>G (p.Thr538=) c.1344T>G (p.Thr448=) c.1521T>G (p.Thr507=) c.1411+484T>G (n.1411+484T>G) c.485+18710A>C (n.485+18710A>C) c.1191T>G (p.Thr397=) c.1506T>G (p.Thr502=) c.1461T>G (p.Thr487=) c.1368T>G (p.Thr456=) | |
9 | g.36222889A>G | CA464495216 | CLTA,GNE | c.1614T>C (p.Thr538=) c.1344T>C (p.Thr448=) c.1521T>C (p.Thr507=) c.1411+484T>C (n.1411+484T>C) c.485+18710A>G (n.485+18710A>G) c.1191T>C (p.Thr397=) c.1506T>C (p.Thr502=) c.1461T>C (p.Thr487=) c.1368T>C (p.Thr456=) | |
9 | g.36222889A>T | CA464495217 | CLTA,GNE | c.1614T>A (p.Thr538=) c.1344T>A (p.Thr448=) c.1521T>A (p.Thr507=) c.1411+484T>A (n.1411+484T>A) c.485+18710A>T (n.485+18710A>T) c.1191T>A (p.Thr397=) c.1506T>A (p.Thr502=) c.1461T>A (p.Thr487=) c.1368T>A (p.Thr456=) | |
9 | g.36222890G>A | CA5056472 | CLTA,GNE | c.1613C>T (p.Thr538Ile) c.1343C>T (p.Thr448Ile) c.1520C>T (p.Thr507Ile) c.1411+483C>T (n.1411+483C>T) c.485+18711G>A (n.485+18711G>A) c.1190C>T (p.Thr397Ile) c.1505C>T (p.Thr502Ile) c.1460C>T (p.Thr487Ile) c.1367C>T (p.Thr456Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222890G>C | CA373426483 | CLTA,GNE | c.1613C>G (p.Thr538Ser) c.1343C>G (p.Thr448Ser) c.1520C>G (p.Thr507Ser) c.1411+483C>G (n.1411+483C>G) c.485+18711G>C (n.485+18711G>C) c.1190C>G (p.Thr397Ser) c.1505C>G (p.Thr502Ser) c.1460C>G (p.Thr487Ser) c.1367C>G (p.Thr456Ser) | |
9 | g.36222890G= | CA1846333552 | CLTA,GNE | c.1613C= (p.Thr538=) c.1343C= (p.Thr448=) c.1520C= (p.Thr507=) c.1411+483C= (n.1411+483C=) c.485+18711G= (n.485+18711G=) c.1190C= (p.Thr397=) c.1505C= (p.Thr502=) c.1460C= (p.Thr487=) c.1367C= (p.Thr456=) | |
9 | g.36222890G>T | CA373426481 | CLTA,GNE | c.1613C>A (p.Thr538Asn) c.1343C>A (p.Thr448Asn) c.1520C>A (p.Thr507Asn) c.1411+483C>A (n.1411+483C>A) c.485+18711G>T (n.485+18711G>T) c.1190C>A (p.Thr397Asn) c.1505C>A (p.Thr502Asn) c.1460C>A (p.Thr487Asn) c.1367C>A (p.Thr456Asn) | |
9 | g.36222891T>A | CA373426486 | CLTA,GNE | c.1612A>T (p.Thr538Ser) c.1342A>T (p.Thr448Ser) c.1519A>T (p.Thr507Ser) c.1411+482A>T (n.1411+482A>T) c.485+18712T>A (n.485+18712T>A) c.1189A>T (p.Thr397Ser) c.1504A>T (p.Thr502Ser) c.1459A>T (p.Thr487Ser) c.1366A>T (p.Thr456Ser) | |
9 | g.36222891T>C | CA373426489 | CLTA,GNE | c.1612A>G (p.Thr538Ala) c.1342A>G (p.Thr448Ala) c.1519A>G (p.Thr507Ala) c.1411+482A>G (n.1411+482A>G) c.485+18712T>C (n.485+18712T>C) c.1189A>G (p.Thr397Ala) c.1504A>G (p.Thr502Ala) c.1459A>G (p.Thr487Ala) c.1366A>G (p.Thr456Ala) | |
9 | g.36222891T>G | CA373426488 | CLTA,GNE | c.1612A>C (p.Thr538Pro) c.1342A>C (p.Thr448Pro) c.1519A>C (p.Thr507Pro) c.1411+482A>C (n.1411+482A>C) c.485+18712T>G (n.485+18712T>G) c.1189A>C (p.Thr397Pro) c.1504A>C (p.Thr502Pro) c.1459A>C (p.Thr487Pro) c.1366A>C (p.Thr456Pro) | |
9 | g.36222892G>A | CA464495218 | CLTA,GNE | c.1611C>T (p.Asp537=) c.1341C>T (p.Asp447=) c.1518C>T (p.Asp506=) c.1411+481C>T (n.1411+481C>T) c.485+18713G>A (n.485+18713G>A) c.1188C>T (p.Asp396=) c.1503C>T (p.Asp501=) c.1458C>T (p.Asp486=) c.1365C>T (p.Asp455=) | |
9 | g.36222892G>C | CA373426490 | CLTA,GNE | c.1611C>G (p.Asp537Glu) c.1341C>G (p.Asp447Glu) c.1518C>G (p.Asp506Glu) c.1411+481C>G (n.1411+481C>G) c.485+18713G>C (n.485+18713G>C) c.1188C>G (p.Asp396Glu) c.1503C>G (p.Asp501Glu) c.1458C>G (p.Asp486Glu) c.1365C>G (p.Asp455Glu) | |
9 | g.36222892G>T | CA373426492 | CLTA,GNE | c.1611C>A (p.Asp537Glu) c.1341C>A (p.Asp447Glu) c.1518C>A (p.Asp506Glu) c.1411+481C>A (n.1411+481C>A) c.485+18713G>T (n.485+18713G>T) c.1188C>A (p.Asp396Glu) c.1503C>A (p.Asp501Glu) c.1458C>A (p.Asp486Glu) c.1365C>A (p.Asp455Glu) | |
9 | g.36222893T>A | CA373426494 | CLTA,GNE | c.1610A>T (p.Asp537Val) c.1340A>T (p.Asp447Val) c.1517A>T (p.Asp506Val) c.1411+480A>T (n.1411+480A>T) c.485+18714T>A (n.485+18714T>A) c.1187A>T (p.Asp396Val) c.1502A>T (p.Asp501Val) c.1457A>T (p.Asp486Val) c.1364A>T (p.Asp455Val) | |
9 | g.36222893T>C | CA373426495 | CLTA,GNE | c.1610A>G (p.Asp537Gly) c.1340A>G (p.Asp447Gly) c.1517A>G (p.Asp506Gly) c.1411+480A>G (n.1411+480A>G) c.485+18714T>C (n.485+18714T>C) c.1187A>G (p.Asp396Gly) c.1502A>G (p.Asp501Gly) c.1457A>G (p.Asp486Gly) c.1364A>G (p.Asp455Gly) | |
9 | g.36222893T>G | CA373426496 | CLTA,GNE | c.1610A>C (p.Asp537Ala) c.1340A>C (p.Asp447Ala) c.1517A>C (p.Asp506Ala) c.1411+480A>C (n.1411+480A>C) c.485+18714T>G (n.485+18714T>G) c.1187A>C (p.Asp396Ala) c.1502A>C (p.Asp501Ala) c.1457A>C (p.Asp486Ala) c.1364A>C (p.Asp455Ala) | |
9 | g.36222894C>A | CA373426499 | CLTA,GNE | c.1609G>T (p.Asp537Tyr) c.1339G>T (p.Asp447Tyr) c.1516G>T (p.Asp506Tyr) c.1411+479G>T (n.1411+479G>T) c.485+18715C>A (n.485+18715C>A) c.1186G>T (p.Asp396Tyr) c.1501G>T (p.Asp501Tyr) c.1456G>T (p.Asp486Tyr) c.1363G>T (p.Asp455Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.36222894C= | CA1846333557 | CLTA,GNE | c.1609G= (p.Asp537=) c.1339G= (p.Asp447=) c.1516G= (p.Asp506=) c.1411+479G= (n.1411+479G=) c.485+18715C= (n.485+18715C=) c.1186G= (p.Asp396=) c.1501G= (p.Asp501=) c.1456G= (p.Asp486=) c.1363G= (p.Asp455=) | |
9 | g.36222894C>G | CA373426501 | CLTA,GNE | c.1609G>C (p.Asp537His) c.1339G>C (p.Asp447His) c.1516G>C (p.Asp506His) c.1411+479G>C (n.1411+479G>C) c.485+18715C>G (n.485+18715C>G) c.1186G>C (p.Asp396His) c.1501G>C (p.Asp501His) c.1456G>C (p.Asp486His) c.1363G>C (p.Asp455His) | |
9 | g.36222894C>T | CA373426503 | CLTA,GNE | c.1609G>A (p.Asp537Asn) c.1339G>A (p.Asp447Asn) c.1516G>A (p.Asp506Asn) c.1411+479G>A (n.1411+479G>A) c.485+18715C>T (n.485+18715C>T) c.1186G>A (p.Asp396Asn) c.1501G>A (p.Asp501Asn) c.1456G>A (p.Asp486Asn) c.1363G>A (p.Asp455Asn) | |
9 | g.36222895A>C | CA464495219 | CLTA,GNE | c.1608T>G (p.Ser536=) c.1338T>G (p.Ser446=) c.1515T>G (p.Ser505=) c.1411+478T>G (n.1411+478T>G) c.485+18716A>C (n.485+18716A>C) c.1185T>G (p.Ser395=) c.1500T>G (p.Ser500=) c.1455T>G (p.Ser485=) c.1362T>G (p.Ser454=) | |
9 | g.36222895A>G | CA464495220 | CLTA,GNE | c.1608T>C (p.Ser536=) c.1338T>C (p.Ser446=) c.1515T>C (p.Ser505=) c.1411+478T>C (n.1411+478T>C) c.485+18716A>G (n.485+18716A>G) c.1185T>C (p.Ser395=) c.1500T>C (p.Ser500=) c.1455T>C (p.Ser485=) c.1362T>C (p.Ser454=) | |
9 | g.36222895A>T | CA464495221 | CLTA,GNE | c.1608T>A (p.Ser536=) c.1338T>A (p.Ser446=) c.1515T>A (p.Ser505=) c.1411+478T>A (n.1411+478T>A) c.485+18716A>T (n.485+18716A>T) c.1185T>A (p.Ser395=) c.1500T>A (p.Ser500=) c.1455T>A (p.Ser485=) c.1362T>A (p.Ser454=) | |
9 | g.36222896G>A | CA373426504 | CLTA,GNE | c.1607C>T (p.Ser536Phe) c.1337C>T (p.Ser446Phe) c.1514C>T (p.Ser505Phe) c.1411+477C>T (n.1411+477C>T) c.485+18717G>A (n.485+18717G>A) c.1184C>T (p.Ser395Phe) c.1499C>T (p.Ser500Phe) c.1454C>T (p.Ser485Phe) c.1361C>T (p.Ser454Phe) | COSMIC COSMIC COSMIC |
9 | g.36222896G>C | CA373426507 | CLTA,GNE | c.1607C>G (p.Ser536Cys) c.1337C>G (p.Ser446Cys) c.1514C>G (p.Ser505Cys) c.1411+477C>G (n.1411+477C>G) c.485+18717G>C (n.485+18717G>C) c.1184C>G (p.Ser395Cys) c.1499C>G (p.Ser500Cys) c.1454C>G (p.Ser485Cys) c.1361C>G (p.Ser454Cys) | |
9 | g.36222896G>T | CA373426508 | CLTA,GNE | c.1607C>A (p.Ser536Tyr) c.1337C>A (p.Ser446Tyr) c.1514C>A (p.Ser505Tyr) c.1411+477C>A (n.1411+477C>A) c.485+18717G>T (n.485+18717G>T) c.1184C>A (p.Ser395Tyr) c.1499C>A (p.Ser500Tyr) c.1454C>A (p.Ser485Tyr) c.1361C>A (p.Ser454Tyr) | |
9 | g.36222897A>C | CA373426511 | CLTA,GNE | c.1606T>G (p.Ser536Ala) c.1336T>G (p.Ser446Ala) c.1513T>G (p.Ser505Ala) c.1411+476T>G (n.1411+476T>G) c.485+18718A>C (n.485+18718A>C) c.1183T>G (p.Ser395Ala) c.1498T>G (p.Ser500Ala) c.1453T>G (p.Ser485Ala) c.1360T>G (p.Ser454Ala) | |
9 | g.36222897A>G | CA373426513 | CLTA,GNE | c.1606T>C (p.Ser536Pro) c.1336T>C (p.Ser446Pro) c.1513T>C (p.Ser505Pro) c.1411+476T>C (n.1411+476T>C) c.485+18718A>G (n.485+18718A>G) c.1183T>C (p.Ser395Pro) c.1498T>C (p.Ser500Pro) c.1453T>C (p.Ser485Pro) c.1360T>C (p.Ser454Pro) | |
9 | g.36222897A>T | CA373426515 | CLTA,GNE | c.1606T>A (p.Ser536Thr) c.1336T>A (p.Ser446Thr) c.1513T>A (p.Ser505Thr) c.1411+476T>A (n.1411+476T>A) c.485+18718A>T (n.485+18718A>T) c.1183T>A (p.Ser395Thr) c.1498T>A (p.Ser500Thr) c.1453T>A (p.Ser485Thr) c.1360T>A (p.Ser454Thr) | |
9 | g.36222898A>C | CA464495222 | CLTA,GNE | c.1605T>G (p.Leu535=) c.1335T>G (p.Leu445=) c.1512T>G (p.Leu504=) c.1411+475T>G (n.1411+475T>G) c.485+18719A>C (n.485+18719A>C) c.1182T>G (p.Leu394=) c.1497T>G (p.Leu499=) c.1452T>G (p.Leu484=) c.1359T>G (p.Leu453=) | |
9 | g.36222898A>G | CA464495223 | CLTA,GNE | c.1605T>C (p.Leu535=) c.1335T>C (p.Leu445=) c.1512T>C (p.Leu504=) c.1411+475T>C (n.1411+475T>C) c.485+18719A>G (n.485+18719A>G) c.1182T>C (p.Leu394=) c.1497T>C (p.Leu499=) c.1452T>C (p.Leu484=) c.1359T>C (p.Leu453=) | gnomAD v4 |
9 | g.36222898A>T | CA464495224 | CLTA,GNE | c.1605T>A (p.Leu535=) c.1335T>A (p.Leu445=) c.1512T>A (p.Leu504=) c.1411+475T>A (n.1411+475T>A) c.485+18719A>T (n.485+18719A>T) c.1182T>A (p.Leu394=) c.1497T>A (p.Leu499=) c.1452T>A (p.Leu484=) c.1359T>A (p.Leu453=) | |
9 | g.36222899A= | CA1846333562 | CLTA,GNE | c.1604T= (p.Leu535=) c.1334T= (p.Leu445=) c.1511T= (p.Leu504=) c.1411+474T= (n.1411+474T=) c.485+18720A= (n.485+18720A=) c.1181T= (p.Leu394=) c.1496T= (p.Leu499=) c.1451T= (p.Leu484=) c.1358T= (p.Leu453=) | |
9 | g.36222899A>C | CA373426517 | CLTA,GNE | c.1604T>G (p.Leu535Arg) c.1334T>G (p.Leu445Arg) c.1511T>G (p.Leu504Arg) c.1411+474T>G (n.1411+474T>G) c.485+18720A>C (n.485+18720A>C) c.1181T>G (p.Leu394Arg) c.1496T>G (p.Leu499Arg) c.1451T>G (p.Leu484Arg) c.1358T>G (p.Leu453Arg) | gnomAD v4 |
9 | g.36222899A>G | CA373426521 | CLTA,GNE | c.1604T>C (p.Leu535Pro) c.1334T>C (p.Leu445Pro) c.1511T>C (p.Leu504Pro) c.1411+474T>C (n.1411+474T>C) c.485+18720A>G (n.485+18720A>G) c.1181T>C (p.Leu394Pro) c.1496T>C (p.Leu499Pro) c.1451T>C (p.Leu484Pro) c.1358T>C (p.Leu453Pro) | |
9 | g.36222899A>T | CA373426519 | CLTA,GNE | c.1604T>A (p.Leu535His) c.1334T>A (p.Leu445His) c.1511T>A (p.Leu504His) c.1411+474T>A (n.1411+474T>A) c.485+18720A>T (n.485+18720A>T) c.1181T>A (p.Leu394His) c.1496T>A (p.Leu499His) c.1451T>A (p.Leu484His) c.1358T>A (p.Leu453His) | |
9 | g.36222900G>A | CA5056473 | CLTA,GNE | c.1603C>T (p.Leu535Phe) c.1333C>T (p.Leu445Phe) c.1510C>T (p.Leu504Phe) c.1411+473C>T (n.1411+473C>T) c.485+18721G>A (n.485+18721G>A) c.1180C>T (p.Leu394Phe) c.1495C>T (p.Leu499Phe) c.1450C>T (p.Leu484Phe) c.1357C>T (p.Leu453Phe) | ClinVar dbSNP ExAC gnomAD v4 |
9 | g.36222900G>C | CA373426529 | CLTA,GNE | c.1603C>G (p.Leu535Val) c.1333C>G (p.Leu445Val) c.1510C>G (p.Leu504Val) c.1411+473C>G (n.1411+473C>G) c.485+18721G>C (n.485+18721G>C) c.1180C>G (p.Leu394Val) c.1495C>G (p.Leu499Val) c.1450C>G (p.Leu484Val) c.1357C>G (p.Leu453Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222900G= | CA1846333571 | CLTA,GNE | c.1603C= (p.Leu535=) c.1333C= (p.Leu445=) c.1510C= (p.Leu504=) c.1411+473C= (n.1411+473C=) c.485+18721G= (n.485+18721G=) c.1180C= (p.Leu394=) c.1495C= (p.Leu499=) c.1450C= (p.Leu484=) c.1357C= (p.Leu453=) | |
9 | g.36222900G>T | CA373426531 | CLTA,GNE | c.1603C>A (p.Leu535Ile) c.1333C>A (p.Leu445Ile) c.1510C>A (p.Leu504Ile) c.1411+473C>A (n.1411+473C>A) c.485+18721G>T (n.485+18721G>T) c.1180C>A (p.Leu394Ile) c.1495C>A (p.Leu499Ile) c.1450C>A (p.Leu484Ile) c.1357C>A (p.Leu453Ile) | gnomAD v4 |
9 | g.36222905dup | CA1139660952 | CLTA,GNE | c.1603dup (p.Leu535ProfsTer3) c.1333dup (p.Leu445ProfsTer3) c.1510dup (p.Leu504ProfsTer3) c.1411+473dup (n.1411+473dup) c.485+18726dup (n.485+18726dup) c.1180dup (p.Leu394ProfsTer3) c.1495dup (p.Leu499ProfsTer3) c.1450dup (p.Leu484ProfsTer3) c.1357dup (p.Leu453ProfsTer3) | ClinVar dbSNP gnomAD v4 |
9 | g.36222901G>A | CA464495225 | CLTA,GNE | c.1602C>T (p.Pro534=) c.1332C>T (p.Pro444=) c.1509C>T (p.Pro503=) c.1411+472C>T (n.1411+472C>T) c.485+18722G>A (n.485+18722G>A) c.1179C>T (p.Pro393=) c.1494C>T (p.Pro498=) c.1449C>T (p.Pro483=) c.1356C>T (p.Pro452=) | gnomAD v4 |
9 | g.36222901G>C | CA5056474 | CLTA,GNE | c.1602C>G (p.Pro534=) c.1332C>G (p.Pro444=) c.1509C>G (p.Pro503=) c.1411+472C>G (n.1411+472C>G) c.485+18722G>C (n.485+18722G>C) c.1179C>G (p.Pro393=) c.1494C>G (p.Pro498=) c.1449C>G (p.Pro483=) c.1356C>G (p.Pro452=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222901G= | CA1846333591 | CLTA,GNE | c.1602C= (p.Pro534=) c.1332C= (p.Pro444=) c.1509C= (p.Pro503=) c.1411+472C= (n.1411+472C=) c.485+18722G= (n.485+18722G=) c.1179C= (p.Pro393=) c.1494C= (p.Pro498=) c.1449C= (p.Pro483=) c.1356C= (p.Pro452=) | |
9 | g.36222901G>T | CA464495226 | CLTA,GNE | c.1602C>A (p.Pro534=) c.1332C>A (p.Pro444=) c.1509C>A (p.Pro503=) c.1411+472C>A (n.1411+472C>A) c.485+18722G>T (n.485+18722G>T) c.1179C>A (p.Pro393=) c.1494C>A (p.Pro498=) c.1449C>A (p.Pro483=) c.1356C>A (p.Pro452=) | ClinVar dbSNP gnomAD v4 |
9 | g.36222902G>A | CA373426541 | CLTA,GNE | c.1601C>T (p.Pro534Leu) c.1331C>T (p.Pro444Leu) c.1508C>T (p.Pro503Leu) c.1411+471C>T (n.1411+471C>T) c.485+18723G>A (n.485+18723G>A) c.1178C>T (p.Pro393Leu) c.1493C>T (p.Pro498Leu) c.1448C>T (p.Pro483Leu) c.1355C>T (p.Pro452Leu) | |
9 | g.36222902G>C | CA5056475 | CLTA,GNE | c.1601C>G (p.Pro534Arg) c.1331C>G (p.Pro444Arg) c.1508C>G (p.Pro503Arg) c.1411+471C>G (n.1411+471C>G) c.485+18723G>C (n.485+18723G>C) c.1178C>G (p.Pro393Arg) c.1493C>G (p.Pro498Arg) c.1448C>G (p.Pro483Arg) c.1355C>G (p.Pro452Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222902G= | CA1846333613 | CLTA,GNE | c.1601C= (p.Pro534=) c.1331C= (p.Pro444=) c.1508C= (p.Pro503=) c.1411+471C= (n.1411+471C=) c.485+18723G= (n.485+18723G=) c.1178C= (p.Pro393=) c.1493C= (p.Pro498=) c.1448C= (p.Pro483=) c.1355C= (p.Pro452=) | |
9 | g.36222902G>T | CA373426544 | CLTA,GNE | c.1601C>A (p.Pro534His) c.1331C>A (p.Pro444His) c.1508C>A (p.Pro503His) c.1411+471C>A (n.1411+471C>A) c.485+18723G>T (n.485+18723G>T) c.1178C>A (p.Pro393His) c.1493C>A (p.Pro498His) c.1448C>A (p.Pro483His) c.1355C>A (p.Pro452His) | |
9 | g.36222903G>A | CA373426546 | CLTA,GNE | c.1600C>T (p.Pro534Ser) c.1330C>T (p.Pro444Ser) c.1507C>T (p.Pro503Ser) c.1411+470C>T (n.1411+470C>T) c.485+18724G>A (n.485+18724G>A) c.1177C>T (p.Pro393Ser) c.1492C>T (p.Pro498Ser) c.1447C>T (p.Pro483Ser) c.1354C>T (p.Pro452Ser) | COSMIC COSMIC COSMIC |
9 | g.36222903G>C | CA373426549 | CLTA,GNE | c.1600C>G (p.Pro534Ala) c.1330C>G (p.Pro444Ala) c.1507C>G (p.Pro503Ala) c.1411+470C>G (n.1411+470C>G) c.485+18724G>C (n.485+18724G>C) c.1177C>G (p.Pro393Ala) c.1492C>G (p.Pro498Ala) c.1447C>G (p.Pro483Ala) c.1354C>G (p.Pro452Ala) | |
9 | g.36222903G>T | CA373426551 | CLTA,GNE | c.1600C>A (p.Pro534Thr) c.1330C>A (p.Pro444Thr) c.1507C>A (p.Pro503Thr) c.1411+470C>A (n.1411+470C>A) c.485+18724G>T (n.485+18724G>T) c.1177C>A (p.Pro393Thr) c.1492C>A (p.Pro498Thr) c.1447C>A (p.Pro483Thr) c.1354C>A (p.Pro452Thr) | |
9 | g.36222904G>A | CA464495227 | CLTA,GNE | c.1599C>T (p.Thr533=) c.1329C>T (p.Thr443=) c.1506C>T (p.Thr502=) c.1411+469C>T (n.1411+469C>T) c.485+18725G>A (n.485+18725G>A) c.1176C>T (p.Thr392=) c.1491C>T (p.Thr497=) c.1446C>T (p.Thr482=) c.1353C>T (p.Thr451=) | |
9 | g.36222904G>C | CA464495228 | CLTA,GNE | c.1599C>G (p.Thr533=) c.1329C>G (p.Thr443=) c.1506C>G (p.Thr502=) c.1411+469C>G (n.1411+469C>G) c.485+18725G>C (n.485+18725G>C) c.1176C>G (p.Thr392=) c.1491C>G (p.Thr497=) c.1446C>G (p.Thr482=) c.1353C>G (p.Thr451=) | |
9 | g.36222904G>T | CA464495229 | CLTA,GNE | c.1599C>A (p.Thr533=) c.1329C>A (p.Thr443=) c.1506C>A (p.Thr502=) c.1411+469C>A (n.1411+469C>A) c.485+18725G>T (n.485+18725G>T) c.1176C>A (p.Thr392=) c.1491C>A (p.Thr497=) c.1446C>A (p.Thr482=) c.1353C>A (p.Thr451=) | gnomAD v4 |
9 | g.36222905G>A | CA373426556 | CLTA,GNE | c.1598C>T (p.Thr533Ile) c.1328C>T (p.Thr443Ile) c.1505C>T (p.Thr502Ile) c.1411+468C>T (n.1411+468C>T) c.485+18726G>A (n.485+18726G>A) c.1175C>T (p.Thr392Ile) c.1490C>T (p.Thr497Ile) c.1445C>T (p.Thr482Ile) c.1352C>T (p.Thr451Ile) | |
9 | g.36222905G>C | CA373426557 | CLTA,GNE | c.1598C>G (p.Thr533Ser) c.1328C>G (p.Thr443Ser) c.1505C>G (p.Thr502Ser) c.1411+468C>G (n.1411+468C>G) c.485+18726G>C (n.485+18726G>C) c.1175C>G (p.Thr392Ser) c.1490C>G (p.Thr497Ser) c.1445C>G (p.Thr482Ser) c.1352C>G (p.Thr451Ser) | |
9 | g.36222905G= | CA1846333624 | CLTA,GNE | c.1598C= (p.Thr533=) c.1328C= (p.Thr443=) c.1505C= (p.Thr502=) c.1411+468C= (n.1411+468C=) c.485+18726G= (n.485+18726G=) c.1175C= (p.Thr392=) c.1490C= (p.Thr497=) c.1445C= (p.Thr482=) c.1352C= (p.Thr451=) | |
9 | g.36222905G>T | CA373426553 | CLTA,GNE | c.1598C>A (p.Thr533Asn) c.1328C>A (p.Thr443Asn) c.1505C>A (p.Thr502Asn) c.1411+468C>A (n.1411+468C>A) c.485+18726G>T (n.485+18726G>T) c.1175C>A (p.Thr392Asn) c.1490C>A (p.Thr497Asn) c.1445C>A (p.Thr482Asn) c.1352C>A (p.Thr451Asn) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36222906T>A | CA373426560 | CLTA,GNE | c.1597A>T (p.Thr533Ser) c.1327A>T (p.Thr443Ser) c.1504A>T (p.Thr502Ser) c.1411+467A>T (n.1411+467A>T) c.485+18727T>A (n.485+18727T>A) c.1174A>T (p.Thr392Ser) c.1489A>T (p.Thr497Ser) c.1444A>T (p.Thr482Ser) c.1351A>T (p.Thr451Ser) | |
9 | g.36222906T>C | CA373426563 | CLTA,GNE | c.1597A>G (p.Thr533Ala) c.1327A>G (p.Thr443Ala) c.1504A>G (p.Thr502Ala) c.1411+467A>G (n.1411+467A>G) c.485+18727T>C (n.485+18727T>C) c.1174A>G (p.Thr392Ala) c.1489A>G (p.Thr497Ala) c.1444A>G (p.Thr482Ala) c.1351A>G (p.Thr451Ala) | |
9 | g.36222906T>G | CA373426573 | CLTA,GNE | c.1597A>C (p.Thr533Pro) c.1327A>C (p.Thr443Pro) c.1504A>C (p.Thr502Pro) c.1411+467A>C (n.1411+467A>C) c.485+18727T>G (n.485+18727T>G) c.1174A>C (p.Thr392Pro) c.1489A>C (p.Thr497Pro) c.1444A>C (p.Thr482Pro) c.1351A>C (p.Thr451Pro) | |
9 | g.36222907C>A | CA373426576 | CLTA,GNE | c.1596G>T (p.Arg532Ser) c.1326G>T (p.Arg442Ser) c.1503G>T (p.Arg501Ser) c.1411+466G>T (n.1411+466G>T) c.485+18728C>A (n.485+18728C>A) c.1173G>T (p.Arg391Ser) c.1488G>T (p.Arg496Ser) c.1443G>T (p.Arg481Ser) c.1350G>T (p.Arg450Ser) | |
9 | g.36222907C>G | CA373426578 | CLTA,GNE | c.1596G>C (p.Arg532Ser) c.1326G>C (p.Arg442Ser) c.1503G>C (p.Arg501Ser) c.1411+466G>C (n.1411+466G>C) c.485+18728C>G (n.485+18728C>G) c.1173G>C (p.Arg391Ser) c.1488G>C (p.Arg496Ser) c.1443G>C (p.Arg481Ser) c.1350G>C (p.Arg450Ser) | |
9 | g.36222907C>T | CA464495230 | CLTA,GNE | c.1596G>A (p.Arg532=) c.1326G>A (p.Arg442=) c.1503G>A (p.Arg501=) c.1411+466G>A (n.1411+466G>A) c.485+18728C>T (n.485+18728C>T) c.1173G>A (p.Arg391=) c.1488G>A (p.Arg496=) c.1443G>A (p.Arg481=) c.1350G>A (p.Arg450=) | |
9 | g.36222908C>A | CA373426588 | CLTA,GNE | c.1595G>T (p.Arg532Met) c.1325G>T (p.Arg442Met) c.1502G>T (p.Arg501Met) c.1411+465G>T (n.1411+465G>T) c.485+18729C>A (n.485+18729C>A) c.1172G>T (p.Arg391Met) c.1487G>T (p.Arg496Met) c.1442G>T (p.Arg481Met) c.1349G>T (p.Arg450Met) | |
9 | g.36222908C>G | CA373426581 | CLTA,GNE | c.1595G>C (p.Arg532Thr) c.1325G>C (p.Arg442Thr) c.1502G>C (p.Arg501Thr) c.1411+465G>C (n.1411+465G>C) c.485+18729C>G (n.485+18729C>G) c.1172G>C (p.Arg391Thr) c.1487G>C (p.Arg496Thr) c.1442G>C (p.Arg481Thr) c.1349G>C (p.Arg450Thr) | |
9 | g.36222908C>T | CA373426583 | CLTA,GNE | c.1595G>A (p.Arg532Lys) c.1325G>A (p.Arg442Lys) c.1502G>A (p.Arg501Lys) c.1411+465G>A (n.1411+465G>A) c.485+18729C>T (n.485+18729C>T) c.1172G>A (p.Arg391Lys) c.1487G>A (p.Arg496Lys) c.1442G>A (p.Arg481Lys) c.1349G>A (p.Arg450Lys) | |
9 | g.36222909T>A | CA373426589 | CLTA,GNE | c.1594A>T (p.Arg532Trp) c.1324A>T (p.Arg442Trp) c.1501A>T (p.Arg501Trp) c.1411+464A>T (n.1411+464A>T) c.485+18730T>A (n.485+18730T>A) c.1171A>T (p.Arg391Trp) c.1486A>T (p.Arg496Trp) c.1441A>T (p.Arg481Trp) c.1348A>T (p.Arg450Trp) | |
9 | g.36222909T>C | CA373426591 | CLTA,GNE | c.1594A>G (p.Arg532Gly) c.1324A>G (p.Arg442Gly) c.1501A>G (p.Arg501Gly) c.1411+464A>G (n.1411+464A>G) c.485+18730T>C (n.485+18730T>C) c.1171A>G (p.Arg391Gly) c.1486A>G (p.Arg496Gly) c.1441A>G (p.Arg481Gly) c.1348A>G (p.Arg450Gly) | gnomAD v4 |
9 | g.36222909T>G | CA464495231 | CLTA,GNE | c.1594A>C (p.Arg532=) c.1324A>C (p.Arg442=) c.1501A>C (p.Arg501=) c.1411+464A>C (n.1411+464A>C) c.485+18730T>G (n.485+18730T>G) c.1171A>C (p.Arg391=) c.1486A>C (p.Arg496=) c.1441A>C (p.Arg481=) c.1348A>C (p.Arg450=) | |
9 | g.36222910A>C | CA464495232 | CLTA,GNE | c.1593T>G (p.Leu531=) c.1323T>G (p.Leu441=) c.1500T>G (p.Leu500=) c.1411+463T>G (n.1411+463T>G) c.485+18731A>C (n.485+18731A>C) c.1170T>G (p.Leu390=) c.1485T>G (p.Leu495=) c.1440T>G (p.Leu480=) c.1347T>G (p.Leu449=) | gnomAD v4 |
9 | g.36222910A>G | CA464495233 | CLTA,GNE | c.1593T>C (p.Leu531=) c.1323T>C (p.Leu441=) c.1500T>C (p.Leu500=) c.1411+463T>C (n.1411+463T>C) c.485+18731A>G (n.485+18731A>G) c.1170T>C (p.Leu390=) c.1485T>C (p.Leu495=) c.1440T>C (p.Leu480=) c.1347T>C (p.Leu449=) | gnomAD v4 |
9 | g.36222910A>T | CA464495234 | CLTA,GNE | c.1593T>A (p.Leu531=) c.1323T>A (p.Leu441=) c.1500T>A (p.Leu500=) c.1411+463T>A (n.1411+463T>A) c.485+18731A>T (n.485+18731A>T) c.1170T>A (p.Leu390=) c.1485T>A (p.Leu495=) c.1440T>A (p.Leu480=) c.1347T>A (p.Leu449=) | ClinVar dbSNP |
9 | g.36222911A>C | CA373426597 | CLTA,GNE | c.1592T>G (p.Leu531Arg) c.1322T>G (p.Leu441Arg) c.1499T>G (p.Leu500Arg) c.1411+462T>G (n.1411+462T>G) c.485+18732A>C (n.485+18732A>C) c.1169T>G (p.Leu390Arg) c.1484T>G (p.Leu495Arg) c.1439T>G (p.Leu480Arg) c.1346T>G (p.Leu449Arg) | |
9 | g.36222911A>G | CA373426599 | CLTA,GNE | c.1592T>C (p.Leu531Pro) c.1322T>C (p.Leu441Pro) c.1499T>C (p.Leu500Pro) c.1411+462T>C (n.1411+462T>C) c.485+18732A>G (n.485+18732A>G) c.1169T>C (p.Leu390Pro) c.1484T>C (p.Leu495Pro) c.1439T>C (p.Leu480Pro) c.1346T>C (p.Leu449Pro) | |
9 | g.36222911A>T | CA373426601 | CLTA,GNE | c.1592T>A (p.Leu531His) c.1322T>A (p.Leu441His) c.1499T>A (p.Leu500His) c.1411+462T>A (n.1411+462T>A) c.485+18732A>T (n.485+18732A>T) c.1169T>A (p.Leu390His) c.1484T>A (p.Leu495His) c.1439T>A (p.Leu480His) c.1346T>A (p.Leu449His) | |
9 | g.36222912G>A | CA373426603 | CLTA,GNE | c.1591C>T (p.Leu531Phe) c.1321C>T (p.Leu441Phe) c.1498C>T (p.Leu500Phe) c.1411+461C>T (n.1411+461C>T) c.485+18733G>A (n.485+18733G>A) c.1168C>T (p.Leu390Phe) c.1483C>T (p.Leu495Phe) c.1438C>T (p.Leu480Phe) c.1345C>T (p.Leu449Phe) | gnomAD v4 |
9 | g.36222912G>C | CA373426607 | CLTA,GNE | c.1591C>G (p.Leu531Val) c.1321C>G (p.Leu441Val) c.1498C>G (p.Leu500Val) c.1411+461C>G (n.1411+461C>G) c.485+18733G>C (n.485+18733G>C) c.1168C>G (p.Leu390Val) c.1483C>G (p.Leu495Val) c.1438C>G (p.Leu480Val) c.1345C>G (p.Leu449Val) | |
9 | g.36222912G>T | CA373426606 | CLTA,GNE | c.1591C>A (p.Leu531Ile) c.1321C>A (p.Leu441Ile) c.1498C>A (p.Leu500Ile) c.1411+461C>A (n.1411+461C>A) c.485+18733G>T (n.485+18733G>T) c.1168C>A (p.Leu390Ile) c.1483C>A (p.Leu495Ile) c.1438C>A (p.Leu480Ile) c.1345C>A (p.Leu449Ile) | |
9 | g.36222913G>A | CA464495235 | CLTA,GNE | c.1590C>T (p.Asp530=) c.1320C>T (p.Asp440=) c.1497C>T (p.Asp499=) c.1411+460C>T (n.1411+460C>T) c.485+18734G>A (n.485+18734G>A) c.1167C>T (p.Asp389=) c.1482C>T (p.Asp494=) c.1437C>T (p.Asp479=) c.1344C>T (p.Asp448=) | |
9 | g.36222913G>C | CA373426610 | CLTA,GNE | c.1590C>G (p.Asp530Glu) c.1320C>G (p.Asp440Glu) c.1497C>G (p.Asp499Glu) c.1411+460C>G (n.1411+460C>G) c.485+18734G>C (n.485+18734G>C) c.1167C>G (p.Asp389Glu) c.1482C>G (p.Asp494Glu) c.1437C>G (p.Asp479Glu) c.1344C>G (p.Asp448Glu) | |
9 | g.36222913G>T | CA373426612 | CLTA,GNE | c.1590C>A (p.Asp530Glu) c.1320C>A (p.Asp440Glu) c.1497C>A (p.Asp499Glu) c.1411+460C>A (n.1411+460C>A) c.485+18734G>T (n.485+18734G>T) c.1167C>A (p.Asp389Glu) c.1482C>A (p.Asp494Glu) c.1437C>A (p.Asp479Glu) c.1344C>A (p.Asp448Glu) | COSMIC COSMIC COSMIC |
9 | g.36222914T>A | CA373426615 | CLTA,GNE | c.1589A>T (p.Asp530Val) c.1319A>T (p.Asp440Val) c.1496A>T (p.Asp499Val) c.1411+459A>T (n.1411+459A>T) c.485+18735T>A (n.485+18735T>A) c.1166A>T (p.Asp389Val) c.1481A>T (p.Asp494Val) c.1436A>T (p.Asp479Val) c.1343A>T (p.Asp448Val) | |
9 | g.36222914T>C | CA373426617 | CLTA,GNE | c.1589A>G (p.Asp530Gly) c.1319A>G (p.Asp440Gly) c.1496A>G (p.Asp499Gly) c.1411+459A>G (n.1411+459A>G) c.485+18735T>C (n.485+18735T>C) c.1166A>G (p.Asp389Gly) c.1481A>G (p.Asp494Gly) c.1436A>G (p.Asp479Gly) c.1343A>G (p.Asp448Gly) | |
9 | g.36222914T>G | CA373426618 | CLTA,GNE | c.1589A>C (p.Asp530Ala) c.1319A>C (p.Asp440Ala) c.1496A>C (p.Asp499Ala) c.1411+459A>C (n.1411+459A>C) c.485+18735T>G (n.485+18735T>G) c.1166A>C (p.Asp389Ala) c.1481A>C (p.Asp494Ala) c.1436A>C (p.Asp479Ala) c.1343A>C (p.Asp448Ala) | |
9 | g.36222915C>A | CA373426619 | CLTA,GNE | c.1588G>T (p.Asp530Tyr) c.1318G>T (p.Asp440Tyr) c.1495G>T (p.Asp499Tyr) c.1411+458G>T (n.1411+458G>T) c.485+18736C>A (n.485+18736C>A) c.1165G>T (p.Asp389Tyr) c.1480G>T (p.Asp494Tyr) c.1435G>T (p.Asp479Tyr) c.1342G>T (p.Asp448Tyr) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36222915C= | CA1846333630 | CLTA,GNE | c.1588G= (p.Asp530=) c.1318G= (p.Asp440=) c.1495G= (p.Asp499=) c.1411+458G= (n.1411+458G=) c.485+18736C= (n.485+18736C=) c.1165G= (p.Asp389=) c.1480G= (p.Asp494=) c.1435G= (p.Asp479=) c.1342G= (p.Asp448=) | |
9 | g.36222915C>G | CA373426622 | CLTA,GNE | c.1588G>C (p.Asp530His) c.1318G>C (p.Asp440His) c.1495G>C (p.Asp499His) c.1411+458G>C (n.1411+458G>C) c.485+18736C>G (n.485+18736C>G) c.1165G>C (p.Asp389His) c.1480G>C (p.Asp494His) c.1435G>C (p.Asp479His) c.1342G>C (p.Asp448His) | |
9 | g.36222915C>T | CA373426623 | CLTA,GNE | c.1588G>A (p.Asp530Asn) c.1318G>A (p.Asp440Asn) c.1495G>A (p.Asp499Asn) c.1411+458G>A (n.1411+458G>A) c.485+18736C>T (n.485+18736C>T) c.1165G>A (p.Asp389Asn) c.1480G>A (p.Asp494Asn) c.1435G>A (p.Asp479Asn) c.1342G>A (p.Asp448Asn) | |
9 | g.36222916C>A | CA464495236 | CLTA,GNE | c.1587G>T (p.Val529=) c.1317G>T (p.Val439=) c.1494G>T (p.Val498=) c.1411+457G>T (n.1411+457G>T) c.485+18737C>A (n.485+18737C>A) c.1164G>T (p.Val388=) c.1479G>T (p.Val493=) c.1434G>T (p.Val478=) c.1341G>T (p.Val447=) | |
9 | g.36222916C>G | CA464495237 | CLTA,GNE | c.1587G>C (p.Val529=) c.1317G>C (p.Val439=) c.1494G>C (p.Val498=) c.1411+457G>C (n.1411+457G>C) c.485+18737C>G (n.485+18737C>G) c.1164G>C (p.Val388=) c.1479G>C (p.Val493=) c.1434G>C (p.Val478=) c.1341G>C (p.Val447=) | |
9 | g.36222916C>T | CA464495238 | CLTA,GNE | c.1587G>A (p.Val529=) c.1317G>A (p.Val439=) c.1494G>A (p.Val498=) c.1411+457G>A (n.1411+457G>A) c.485+18737C>T (n.485+18737C>T) c.1164G>A (p.Val388=) c.1479G>A (p.Val493=) c.1434G>A (p.Val478=) c.1341G>A (p.Val447=) | |
9 | g.36222917A>C | CA373426624 | CLTA,GNE | c.1586T>G (p.Val529Gly) c.1316T>G (p.Val439Gly) c.1493T>G (p.Val498Gly) c.1411+456T>G (n.1411+456T>G) c.485+18738A>C (n.485+18738A>C) c.1163T>G (p.Val388Gly) c.1478T>G (p.Val493Gly) c.1433T>G (p.Val478Gly) c.1340T>G (p.Val447Gly) | |
9 | g.36222917A>G | CA373426625 | CLTA,GNE | c.1586T>C (p.Val529Ala) c.1316T>C (p.Val439Ala) c.1493T>C (p.Val498Ala) c.1411+456T>C (n.1411+456T>C) c.485+18738A>G (n.485+18738A>G) c.1163T>C (p.Val388Ala) c.1478T>C (p.Val493Ala) c.1433T>C (p.Val478Ala) c.1340T>C (p.Val447Ala) | |
9 | g.36222917A>T | CA373426626 | CLTA,GNE | c.1586T>A (p.Val529Glu) c.1316T>A (p.Val439Glu) c.1493T>A (p.Val498Glu) c.1411+456T>A (n.1411+456T>A) c.485+18738A>T (n.485+18738A>T) c.1163T>A (p.Val388Glu) c.1478T>A (p.Val493Glu) c.1433T>A (p.Val478Glu) c.1340T>A (p.Val447Glu) | |
9 | g.36222918C>A | CA373426632 | CLTA,GNE | c.1585G>T (p.Val529Leu) c.1315G>T (p.Val439Leu) c.1492G>T (p.Val498Leu) c.1411+455G>T (n.1411+455G>T) c.485+18739C>A (n.485+18739C>A) c.1162G>T (p.Val388Leu) c.1477G>T (p.Val493Leu) c.1432G>T (p.Val478Leu) c.1339G>T (p.Val447Leu) | |
9 | g.36222918C>G | CA373426631 | CLTA,GNE | c.1585G>C (p.Val529Leu) c.1315G>C (p.Val439Leu) c.1492G>C (p.Val498Leu) c.1411+455G>C (n.1411+455G>C) c.485+18739C>G (n.485+18739C>G) c.1162G>C (p.Val388Leu) c.1477G>C (p.Val493Leu) c.1432G>C (p.Val478Leu) c.1339G>C (p.Val447Leu) | |
9 | g.36222918C>T | CA373426628 | CLTA,GNE | c.1585G>A (p.Val529Met) c.1315G>A (p.Val439Met) c.1492G>A (p.Val498Met) c.1411+455G>A (n.1411+455G>A) c.485+18739C>T (n.485+18739C>T) c.1162G>A (p.Val388Met) c.1477G>A (p.Val493Met) c.1432G>A (p.Val478Met) c.1339G>A (p.Val447Met) | |
9 | g.36222919A>C | CA464495239 | CLTA,GNE | c.1584T>G (p.Ser528=) c.1314T>G (p.Ser438=) c.1491T>G (p.Ser497=) c.1411+454T>G (n.1411+454T>G) c.485+18740A>C (n.485+18740A>C) c.1161T>G (p.Ser387=) c.1476T>G (p.Ser492=) c.1431T>G (p.Ser477=) c.1338T>G (p.Ser446=) | |
9 | g.36222919A>G | CA464495240 | CLTA,GNE | c.1584T>C (p.Ser528=) c.1314T>C (p.Ser438=) c.1491T>C (p.Ser497=) c.1411+454T>C (n.1411+454T>C) c.485+18740A>G (n.485+18740A>G) c.1161T>C (p.Ser387=) c.1476T>C (p.Ser492=) c.1431T>C (p.Ser477=) c.1338T>C (p.Ser446=) | |
9 | g.36222919A>T | CA464495241 | CLTA,GNE | c.1584T>A (p.Ser528=) c.1314T>A (p.Ser438=) c.1491T>A (p.Ser497=) c.1411+454T>A (n.1411+454T>A) c.485+18740A>T (n.485+18740A>T) c.1161T>A (p.Ser387=) c.1476T>A (p.Ser492=) c.1431T>A (p.Ser477=) c.1338T>A (p.Ser446=) | |
9 | g.36222920G>A | CA373426634 | CLTA,GNE | c.1583C>T (p.Ser528Phe) c.1313C>T (p.Ser438Phe) c.1490C>T (p.Ser497Phe) c.1411+453C>T (n.1411+453C>T) c.485+18741G>A (n.485+18741G>A) c.1160C>T (p.Ser387Phe) c.1475C>T (p.Ser492Phe) c.1430C>T (p.Ser477Phe) c.1337C>T (p.Ser446Phe) | gnomAD v4 |
9 | g.36222920G>C | CA373426639 | CLTA,GNE | c.1583C>G (p.Ser528Cys) c.1313C>G (p.Ser438Cys) c.1490C>G (p.Ser497Cys) c.1411+453C>G (n.1411+453C>G) c.485+18741G>C (n.485+18741G>C) c.1160C>G (p.Ser387Cys) c.1475C>G (p.Ser492Cys) c.1430C>G (p.Ser477Cys) c.1337C>G (p.Ser446Cys) | |
9 | g.36222920G>T | CA373426636 | CLTA,GNE | c.1583C>A (p.Ser528Tyr) c.1313C>A (p.Ser438Tyr) c.1490C>A (p.Ser497Tyr) c.1411+453C>A (n.1411+453C>A) c.485+18741G>T (n.485+18741G>T) c.1160C>A (p.Ser387Tyr) c.1475C>A (p.Ser492Tyr) c.1430C>A (p.Ser477Tyr) c.1337C>A (p.Ser446Tyr) | |
9 | g.36222921A>C | CA373426642 | CLTA,GNE | c.1582T>G (p.Ser528Ala) c.1312T>G (p.Ser438Ala) c.1489T>G (p.Ser497Ala) c.1411+452T>G (n.1411+452T>G) c.485+18742A>C (n.485+18742A>C) c.1159T>G (p.Ser387Ala) c.1474T>G (p.Ser492Ala) c.1429T>G (p.Ser477Ala) c.1336T>G (p.Ser446Ala) | |
9 | g.36222921A>G | CA373426644 | CLTA,GNE | c.1582T>C (p.Ser528Pro) c.1312T>C (p.Ser438Pro) c.1489T>C (p.Ser497Pro) c.1411+452T>C (n.1411+452T>C) c.485+18742A>G (n.485+18742A>G) c.1159T>C (p.Ser387Pro) c.1474T>C (p.Ser492Pro) c.1429T>C (p.Ser477Pro) c.1336T>C (p.Ser446Pro) | |
9 | g.36222921A>T | CA373426645 | CLTA,GNE | c.1582T>A (p.Ser528Thr) c.1312T>A (p.Ser438Thr) c.1489T>A (p.Ser497Thr) c.1411+452T>A (n.1411+452T>A) c.485+18742A>T (n.485+18742A>T) c.1159T>A (p.Ser387Thr) c.1474T>A (p.Ser492Thr) c.1429T>A (p.Ser477Thr) c.1336T>A (p.Ser446Thr) | |
9 | g.36222922G>A | CA464495242 | CLTA,GNE | c.1581C>T (p.Asn527=) c.1311C>T (p.Asn437=) c.1488C>T (p.Asn496=) c.1411+451C>T (n.1411+451C>T) c.485+18743G>A (n.485+18743G>A) c.1158C>T (p.Asn386=) c.1473C>T (p.Asn491=) c.1428C>T (p.Asn476=) c.1335C>T (p.Asn445=) | ClinVar |
9 | g.36222922G>C | CA373426647 | CLTA,GNE | c.1581C>G (p.Asn527Lys) c.1311C>G (p.Asn437Lys) c.1488C>G (p.Asn496Lys) c.1411+451C>G (n.1411+451C>G) c.485+18743G>C (n.485+18743G>C) c.1158C>G (p.Asn386Lys) c.1473C>G (p.Asn491Lys) c.1428C>G (p.Asn476Lys) c.1335C>G (p.Asn445Lys) | |
9 | g.36222922G>T | CA373426648 | CLTA,GNE | c.1581C>A (p.Asn527Lys) c.1311C>A (p.Asn437Lys) c.1488C>A (p.Asn496Lys) c.1411+451C>A (n.1411+451C>A) c.485+18743G>T (n.485+18743G>T) c.1158C>A (p.Asn386Lys) c.1473C>A (p.Asn491Lys) c.1428C>A (p.Asn476Lys) c.1335C>A (p.Asn445Lys) | |
9 | g.36222923T>A | CA373426650 | CLTA,GNE | c.1580A>T (p.Asn527Ile) c.1310A>T (p.Asn437Ile) c.1487A>T (p.Asn496Ile) c.1411+450A>T (n.1411+450A>T) c.485+18744T>A (n.485+18744T>A) c.1157A>T (p.Asn386Ile) c.1472A>T (p.Asn491Ile) c.1427A>T (p.Asn476Ile) c.1334A>T (p.Asn445Ile) | |
9 | g.36222923T>C | CA373426652 | CLTA,GNE | c.1580A>G (p.Asn527Ser) c.1310A>G (p.Asn437Ser) c.1487A>G (p.Asn496Ser) c.1411+450A>G (n.1411+450A>G) c.485+18744T>C (n.485+18744T>C) c.1157A>G (p.Asn386Ser) c.1472A>G (p.Asn491Ser) c.1427A>G (p.Asn476Ser) c.1334A>G (p.Asn445Ser) | |
9 | g.36222923T>G | CA373426653 | CLTA,GNE | c.1580A>C (p.Asn527Thr) c.1310A>C (p.Asn437Thr) c.1487A>C (p.Asn496Thr) c.1411+450A>C (n.1411+450A>C) c.485+18744T>G (n.485+18744T>G) c.1157A>C (p.Asn386Thr) c.1472A>C (p.Asn491Thr) c.1427A>C (p.Asn476Thr) c.1334A>C (p.Asn445Thr) | |
9 | g.36222924T>A | CA373426655 | CLTA,GNE | c.1579A>T (p.Asn527Tyr) c.1309A>T (p.Asn437Tyr) c.1486A>T (p.Asn496Tyr) c.1411+449A>T (n.1411+449A>T) c.485+18745T>A (n.485+18745T>A) c.1156A>T (p.Asn386Tyr) c.1471A>T (p.Asn491Tyr) c.1426A>T (p.Asn476Tyr) c.1333A>T (p.Asn445Tyr) | |
9 | g.36222924T>C | CA373426656 | CLTA,GNE | c.1579A>G (p.Asn527Asp) c.1309A>G (p.Asn437Asp) c.1486A>G (p.Asn496Asp) c.1411+449A>G (n.1411+449A>G) c.485+18745T>C (n.485+18745T>C) c.1156A>G (p.Asn386Asp) c.1471A>G (p.Asn491Asp) c.1426A>G (p.Asn476Asp) c.1333A>G (p.Asn445Asp) | gnomAD v4 |
9 | g.36222924T>G | CA373426658 | CLTA,GNE | c.1579A>C (p.Asn527His) c.1309A>C (p.Asn437His) c.1486A>C (p.Asn496His) c.1411+449A>C (n.1411+449A>C) c.485+18745T>G (n.485+18745T>G) c.1156A>C (p.Asn386His) c.1471A>C (p.Asn491His) c.1426A>C (p.Asn476His) c.1333A>C (p.Asn445His) | |
9 | g.36222925C>A | CA373426665 | CLTA,GNE | c.1578G>T (p.Trp526Cys) c.1308G>T (p.Trp436Cys) c.1485G>T (p.Trp495Cys) c.1411+448G>T (n.1411+448G>T) c.485+18746C>A (n.485+18746C>A) c.1155G>T (p.Trp385Cys) c.1470G>T (p.Trp490Cys) c.1425G>T (p.Trp475Cys) c.1332G>T (p.Trp444Cys) | |
9 | g.36222925C= | CA1846333638 | CLTA,GNE | c.1578G= (p.Trp526=) c.1308G= (p.Trp436=) c.1485G= (p.Trp495=) c.1411+448G= (n.1411+448G=) c.485+18746C= (n.485+18746C=) c.1155G= (p.Trp385=) c.1470G= (p.Trp490=) c.1425G= (p.Trp475=) c.1332G= (p.Trp444=) | |
9 | g.36222925C>G | CA373426663 | CLTA,GNE | c.1578G>C (p.Trp526Cys) c.1308G>C (p.Trp436Cys) c.1485G>C (p.Trp495Cys) c.1411+448G>C (n.1411+448G>C) c.485+18746C>G (n.485+18746C>G) c.1155G>C (p.Trp385Cys) c.1470G>C (p.Trp490Cys) c.1425G>C (p.Trp475Cys) c.1332G>C (p.Trp444Cys) | |
9 | g.36222925C>T | CA373426660 | CLTA,GNE | c.1578G>A (p.Trp526Ter) c.1308G>A (p.Trp436Ter) c.1485G>A (p.Trp495Ter) c.1411+448G>A (n.1411+448G>A) c.485+18746C>T (n.485+18746C>T) c.1155G>A (p.Trp385Ter) c.1470G>A (p.Trp490Ter) c.1425G>A (p.Trp475Ter) c.1332G>A (p.Trp444Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222926C>A | CA373426667 | CLTA,GNE | c.1577G>T (p.Trp526Leu) c.1307G>T (p.Trp436Leu) c.1484G>T (p.Trp495Leu) c.1411+447G>T (n.1411+447G>T) c.485+18747C>A (n.485+18747C>A) c.1154G>T (p.Trp385Leu) c.1469G>T (p.Trp490Leu) c.1424G>T (p.Trp475Leu) c.1331G>T (p.Trp444Leu) | |
9 | g.36222926C= | CA1846333648 | CLTA,GNE | c.1577G= (p.Trp526=) c.1307G= (p.Trp436=) c.1484G= (p.Trp495=) c.1411+447G= (n.1411+447G=) c.485+18747C= (n.485+18747C=) c.1154G= (p.Trp385=) c.1469G= (p.Trp490=) c.1424G= (p.Trp475=) c.1331G= (p.Trp444=) | |
9 | g.36222926C>G | CA373426668 | CLTA,GNE | c.1577G>C (p.Trp526Ser) c.1307G>C (p.Trp436Ser) c.1484G>C (p.Trp495Ser) c.1411+447G>C (n.1411+447G>C) c.485+18747C>G (n.485+18747C>G) c.1154G>C (p.Trp385Ser) c.1469G>C (p.Trp490Ser) c.1424G>C (p.Trp475Ser) c.1331G>C (p.Trp444Ser) | |
9 | g.36222926C>T | CA373426669 | CLTA,GNE | c.1577G>A (p.Trp526Ter) c.1307G>A (p.Trp436Ter) c.1484G>A (p.Trp495Ter) c.1411+447G>A (n.1411+447G>A) c.485+18747C>T (n.485+18747C>T) c.1154G>A (p.Trp385Ter) c.1469G>A (p.Trp490Ter) c.1424G>A (p.Trp475Ter) c.1331G>A (p.Trp444Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222927A= | CA1846333658 | CLTA,GNE | c.1576T= (p.Trp526=) c.1306T= (p.Trp436=) c.1483T= (p.Trp495=) c.1411+446T= (n.1411+446T=) c.485+18748A= (n.485+18748A=) c.1153T= (p.Trp385=) c.1468T= (p.Trp490=) c.1423T= (p.Trp475=) c.1330T= (p.Trp444=) | |
9 | g.36222927A>C | CA373426671 | CLTA,GNE | c.1576T>G (p.Trp526Gly) c.1306T>G (p.Trp436Gly) c.1483T>G (p.Trp495Gly) c.1411+446T>G (n.1411+446T>G) c.485+18748A>C (n.485+18748A>C) c.1153T>G (p.Trp385Gly) c.1468T>G (p.Trp490Gly) c.1423T>G (p.Trp475Gly) c.1330T>G (p.Trp444Gly) | |
9 | g.36222927A>G | CA373426673 | CLTA,GNE | c.1576T>C (p.Trp526Arg) c.1306T>C (p.Trp436Arg) c.1483T>C (p.Trp495Arg) c.1411+446T>C (n.1411+446T>C) c.485+18748A>G (n.485+18748A>G) c.1153T>C (p.Trp385Arg) c.1468T>C (p.Trp490Arg) c.1423T>C (p.Trp475Arg) c.1330T>C (p.Trp444Arg) | |
9 | g.36222927A>T | CA373426675 | CLTA,GNE | c.1576T>A (p.Trp526Arg) c.1306T>A (p.Trp436Arg) c.1483T>A (p.Trp495Arg) c.1411+446T>A (n.1411+446T>A) c.485+18748A>T (n.485+18748A>T) c.1153T>A (p.Trp385Arg) c.1468T>A (p.Trp490Arg) c.1423T>A (p.Trp475Arg) c.1330T>A (p.Trp444Arg) | dbSNP |
9 | g.36222928C>A | CA373426677 | CLTA,GNE | c.1575G>T (p.Glu525Asp) c.1305G>T (p.Glu435Asp) c.1482G>T (p.Glu494Asp) c.1411+445G>T (n.1411+445G>T) c.485+18749C>A (n.485+18749C>A) c.1152G>T (p.Glu384Asp) c.1467G>T (p.Glu489Asp) c.1422G>T (p.Glu474Asp) c.1329G>T (p.Glu443Asp) | |
9 | g.36222928C= | CA1846333688 | CLTA,GNE | c.1575G= (p.Glu525=) c.1305G= (p.Glu435=) c.1482G= (p.Glu494=) c.1411+445G= (n.1411+445G=) c.485+18749C= (n.485+18749C=) c.1152G= (p.Glu384=) c.1467G= (p.Glu489=) c.1422G= (p.Glu474=) c.1329G= (p.Glu443=) | |
9 | g.36222928C>G | CA373426678 | CLTA,GNE | c.1575G>C (p.Glu525Asp) c.1305G>C (p.Glu435Asp) c.1482G>C (p.Glu494Asp) c.1411+445G>C (n.1411+445G>C) c.485+18749C>G (n.485+18749C>G) c.1152G>C (p.Glu384Asp) c.1467G>C (p.Glu489Asp) c.1422G>C (p.Glu474Asp) c.1329G>C (p.Glu443Asp) | |
9 | g.36222928C>T | CA464495243 | CLTA,GNE | c.1575G>A (p.Glu525=) c.1305G>A (p.Glu435=) c.1482G>A (p.Glu494=) c.1411+445G>A (n.1411+445G>A) c.485+18749C>T (n.485+18749C>T) c.1152G>A (p.Glu384=) c.1467G>A (p.Glu489=) c.1422G>A (p.Glu474=) c.1329G>A (p.Glu443=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36222929T>A | CA373426681 | CLTA,GNE | c.1574A>T (p.Glu525Val) c.1304A>T (p.Glu435Val) c.1481A>T (p.Glu494Val) c.1411+444A>T (n.1411+444A>T) c.485+18750T>A (n.485+18750T>A) c.1151A>T (p.Glu384Val) c.1466A>T (p.Glu489Val) c.1421A>T (p.Glu474Val) c.1328A>T (p.Glu443Val) | |
9 | g.36222929T>C | CA373426684 | CLTA,GNE | c.1574A>G (p.Glu525Gly) c.1304A>G (p.Glu435Gly) c.1481A>G (p.Glu494Gly) c.1411+444A>G (n.1411+444A>G) c.485+18750T>C (n.485+18750T>C) c.1151A>G (p.Glu384Gly) c.1466A>G (p.Glu489Gly) c.1421A>G (p.Glu474Gly) c.1328A>G (p.Glu443Gly) | |
9 | g.36222929T>G | CA373426687 | CLTA,GNE | c.1574A>C (p.Glu525Ala) c.1304A>C (p.Glu435Ala) c.1481A>C (p.Glu494Ala) c.1411+444A>C (n.1411+444A>C) c.485+18750T>G (n.485+18750T>G) c.1151A>C (p.Glu384Ala) c.1466A>C (p.Glu489Ala) c.1421A>C (p.Glu474Ala) c.1328A>C (p.Glu443Ala) | |
9 | g.36222930C>A | CA373426693 | CLTA,GNE | c.1573G>T (p.Glu525Ter) c.1303G>T (p.Glu435Ter) c.1480G>T (p.Glu494Ter) c.1411+443G>T (n.1411+443G>T) c.485+18751C>A (n.485+18751C>A) c.1150G>T (p.Glu384Ter) c.1465G>T (p.Glu489Ter) c.1420G>T (p.Glu474Ter) c.1327G>T (p.Glu443Ter) | |
9 | g.36222930C>G | CA373426691 | CLTA,GNE | c.1573G>C (p.Glu525Gln) c.1303G>C (p.Glu435Gln) c.1480G>C (p.Glu494Gln) c.1411+443G>C (n.1411+443G>C) c.485+18751C>G (n.485+18751C>G) c.1150G>C (p.Glu384Gln) c.1465G>C (p.Glu489Gln) c.1420G>C (p.Glu474Gln) c.1327G>C (p.Glu443Gln) | gnomAD v4 |
9 | g.36222930C>T | CA373426690 | CLTA,GNE | c.1573G>A (p.Glu525Lys) c.1303G>A (p.Glu435Lys) c.1480G>A (p.Glu494Lys) c.1411+443G>A (n.1411+443G>A) c.485+18751C>T (n.485+18751C>T) c.1150G>A (p.Glu384Lys) c.1465G>A (p.Glu489Lys) c.1420G>A (p.Glu474Lys) c.1327G>A (p.Glu443Lys) | |
9 | g.36222931T>A | CA373426695 | CLTA,GNE | c.1572A>T (p.Gln524His) c.1302A>T (p.Gln434His) c.1479A>T (p.Gln493His) c.1411+442A>T (n.1411+442A>T) c.485+18752T>A (n.485+18752T>A) c.1149A>T (p.Gln383His) c.1464A>T (p.Gln488His) c.1419A>T (p.Gln473His) c.1326A>T (p.Gln442His) | |
9 | g.36222931T>C | CA464495244 | CLTA,GNE | c.1572A>G (p.Gln524=) c.1302A>G (p.Gln434=) c.1479A>G (p.Gln493=) c.1411+442A>G (n.1411+442A>G) c.485+18752T>C (n.485+18752T>C) c.1149A>G (p.Gln383=) c.1464A>G (p.Gln488=) c.1419A>G (p.Gln473=) c.1326A>G (p.Gln442=) | |
9 | g.36222931T>G | CA5056476 | CLTA,GNE | c.1572A>C (p.Gln524His) c.1302A>C (p.Gln434His) c.1479A>C (p.Gln493His) c.1411+442A>C (n.1411+442A>C) c.485+18752T>G (n.485+18752T>G) c.1149A>C (p.Gln383His) c.1464A>C (p.Gln488His) c.1419A>C (p.Gln473His) c.1326A>C (p.Gln442His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222931T= | CA1846333694 | CLTA,GNE | c.1572A= (p.Gln524=) c.1302A= (p.Gln434=) c.1479A= (p.Gln493=) c.1411+442A= (n.1411+442A=) c.485+18752T= (n.485+18752T=) c.1149A= (p.Gln383=) c.1464A= (p.Gln488=) c.1419A= (p.Gln473=) c.1326A= (p.Gln442=) | |
9 | g.36222932T>A | CA373426699 | CLTA,GNE | c.1571A>T (p.Gln524Leu) c.1301A>T (p.Gln434Leu) c.1478A>T (p.Gln493Leu) c.1411+441A>T (n.1411+441A>T) c.485+18753T>A (n.485+18753T>A) c.1148A>T (p.Gln383Leu) c.1463A>T (p.Gln488Leu) c.1418A>T (p.Gln473Leu) c.1325A>T (p.Gln442Leu) | |
9 | g.36222932T>C | CA373426701 | CLTA,GNE | c.1571A>G (p.Gln524Arg) c.1301A>G (p.Gln434Arg) c.1478A>G (p.Gln493Arg) c.1411+441A>G (n.1411+441A>G) c.485+18753T>C (n.485+18753T>C) c.1148A>G (p.Gln383Arg) c.1463A>G (p.Gln488Arg) c.1418A>G (p.Gln473Arg) c.1325A>G (p.Gln442Arg) | |
9 | g.36222932T>G | CA373426704 | CLTA,GNE | c.1571A>C (p.Gln524Pro) c.1301A>C (p.Gln434Pro) c.1478A>C (p.Gln493Pro) c.1411+441A>C (n.1411+441A>C) c.485+18753T>G (n.485+18753T>G) c.1148A>C (p.Gln383Pro) c.1463A>C (p.Gln488Pro) c.1418A>C (p.Gln473Pro) c.1325A>C (p.Gln442Pro) | |
9 | g.36222933G>A | CA373426709 | CLTA,GNE | c.1570C>T (p.Gln524Ter) c.1300C>T (p.Gln434Ter) c.1477C>T (p.Gln493Ter) c.1411+440C>T (n.1411+440C>T) c.485+18754G>A (n.485+18754G>A) c.1147C>T (p.Gln383Ter) c.1462C>T (p.Gln488Ter) c.1417C>T (p.Gln473Ter) c.1324C>T (p.Gln442Ter) | |
9 | g.36222933G>C | CA373426712 | CLTA,GNE | c.1570C>G (p.Gln524Glu) c.1300C>G (p.Gln434Glu) c.1477C>G (p.Gln493Glu) c.1411+440C>G (n.1411+440C>G) c.485+18754G>C (n.485+18754G>C) c.1147C>G (p.Gln383Glu) c.1462C>G (p.Gln488Glu) c.1417C>G (p.Gln473Glu) c.1324C>G (p.Gln442Glu) | |
9 | g.36222933G>T | CA373426713 | CLTA,GNE | c.1570C>A (p.Gln524Lys) c.1300C>A (p.Gln434Lys) c.1477C>A (p.Gln493Lys) c.1411+440C>A (n.1411+440C>A) c.485+18754G>T (n.485+18754G>T) c.1147C>A (p.Gln383Lys) c.1462C>A (p.Gln488Lys) c.1417C>A (p.Gln473Lys) c.1324C>A (p.Gln442Lys) | COSMIC COSMIC COSMIC |
9 | g.36222934G>A | CA464495245 | CLTA,GNE | c.1569C>T (p.Ile523=) c.1299C>T (p.Ile433=) c.1476C>T (p.Ile492=) c.1411+439C>T (n.1411+439C>T) c.485+18755G>A (n.485+18755G>A) c.1146C>T (p.Ile382=) c.1461C>T (p.Ile487=) c.1416C>T (p.Ile472=) c.1323C>T (p.Ile441=) | ClinVar gnomAD v4 |
9 | g.36222934G>C | CA373426716 | CLTA,GNE | c.1569C>G (p.Ile523Met) c.1299C>G (p.Ile433Met) c.1476C>G (p.Ile492Met) c.1411+439C>G (n.1411+439C>G) c.485+18755G>C (n.485+18755G>C) c.1146C>G (p.Ile382Met) c.1461C>G (p.Ile487Met) c.1416C>G (p.Ile472Met) c.1323C>G (p.Ile441Met) | |
9 | g.36222934G>T | CA464495246 | CLTA,GNE | c.1569C>A (p.Ile523=) c.1299C>A (p.Ile433=) c.1476C>A (p.Ile492=) c.1411+439C>A (n.1411+439C>A) c.485+18755G>T (n.485+18755G>T) c.1146C>A (p.Ile382=) c.1461C>A (p.Ile487=) c.1416C>A (p.Ile472=) c.1323C>A (p.Ile441=) | |
9 | g.36222935A= | CA1846333704 | CLTA,GNE | c.1568T= (p.Ile523=) c.1298T= (p.Ile433=) c.1475T= (p.Ile492=) c.1411+438T= (n.1411+438T=) c.485+18756A= (n.485+18756A=) c.1145T= (p.Ile382=) c.1460T= (p.Ile487=) c.1415T= (p.Ile472=) c.1322T= (p.Ile441=) | |
9 | g.36222935A>C | CA373426718 | CLTA,GNE | c.1568T>G (p.Ile523Ser) c.1298T>G (p.Ile433Ser) c.1475T>G (p.Ile492Ser) c.1411+438T>G (n.1411+438T>G) c.485+18756A>C (n.485+18756A>C) c.1145T>G (p.Ile382Ser) c.1460T>G (p.Ile487Ser) c.1415T>G (p.Ile472Ser) c.1322T>G (p.Ile441Ser) | |
9 | g.36222935A>G | CA373426720 | CLTA,GNE | c.1568T>C (p.Ile523Thr) c.1298T>C (p.Ile433Thr) c.1475T>C (p.Ile492Thr) c.1411+438T>C (n.1411+438T>C) c.485+18756A>G (n.485+18756A>G) c.1145T>C (p.Ile382Thr) c.1460T>C (p.Ile487Thr) c.1415T>C (p.Ile472Thr) c.1322T>C (p.Ile441Thr) | |
9 | g.36222935A>T | CA373426721 | CLTA,GNE | c.1568T>A (p.Ile523Asn) c.1298T>A (p.Ile433Asn) c.1475T>A (p.Ile492Asn) c.1411+438T>A (n.1411+438T>A) c.485+18756A>T (n.485+18756A>T) c.1145T>A (p.Ile382Asn) c.1460T>A (p.Ile487Asn) c.1415T>A (p.Ile472Asn) c.1322T>A (p.Ile441Asn) | ClinVar dbSNP gnomAD v4 |
9 | g.36222936T>A | CA373426726 | CLTA,GNE | c.1567A>T (p.Ile523Phe) c.1297A>T (p.Ile433Phe) c.1474A>T (p.Ile492Phe) c.1411+437A>T (n.1411+437A>T) c.485+18757T>A (n.485+18757T>A) c.1144A>T (p.Ile382Phe) c.1459A>T (p.Ile487Phe) c.1414A>T (p.Ile472Phe) c.1321A>T (p.Ile441Phe) | |
9 | g.36222936T>C | CA373426725 | CLTA,GNE | c.1567A>G (p.Ile523Val) c.1297A>G (p.Ile433Val) c.1474A>G (p.Ile492Val) c.1411+437A>G (n.1411+437A>G) c.485+18757T>C (n.485+18757T>C) c.1144A>G (p.Ile382Val) c.1459A>G (p.Ile487Val) c.1414A>G (p.Ile472Val) c.1321A>G (p.Ile441Val) | |
9 | g.36222936T>G | CA373426723 | CLTA,GNE | c.1567A>C (p.Ile523Leu) c.1297A>C (p.Ile433Leu) c.1474A>C (p.Ile492Leu) c.1411+437A>C (n.1411+437A>C) c.485+18757T>G (n.485+18757T>G) c.1144A>C (p.Ile382Leu) c.1459A>C (p.Ile487Leu) c.1414A>C (p.Ile472Leu) c.1321A>C (p.Ile441Leu) | gnomAD v4 |
9 | g.36222937C>A | CA464495247 | CLTA,GNE | c.1566G>T (p.Leu522=) c.1296G>T (p.Leu432=) c.1473G>T (p.Leu491=) c.1411+436G>T (n.1411+436G>T) c.485+18758C>A (n.485+18758C>A) c.1143G>T (p.Leu381=) c.1458G>T (p.Leu486=) c.1413G>T (p.Leu471=) c.1320G>T (p.Leu440=) | |
9 | g.36222937C>G | CA464495248 | CLTA,GNE | c.1566G>C (p.Leu522=) c.1296G>C (p.Leu432=) c.1473G>C (p.Leu491=) c.1411+436G>C (n.1411+436G>C) c.485+18758C>G (n.485+18758C>G) c.1143G>C (p.Leu381=) c.1458G>C (p.Leu486=) c.1413G>C (p.Leu471=) c.1320G>C (p.Leu440=) | |
9 | g.36222937C>T | CA464495249 | CLTA,GNE | c.1566G>A (p.Leu522=) c.1296G>A (p.Leu432=) c.1473G>A (p.Leu491=) c.1411+436G>A (n.1411+436G>A) c.485+18758C>T (n.485+18758C>T) c.1143G>A (p.Leu381=) c.1458G>A (p.Leu486=) c.1413G>A (p.Leu471=) c.1320G>A (p.Leu440=) | gnomAD v4 |
9 | g.36222938A>C | CA373426728 | CLTA,GNE | c.1565T>G (p.Leu522Arg) c.1295T>G (p.Leu432Arg) c.1472T>G (p.Leu491Arg) c.1411+435T>G (n.1411+435T>G) c.485+18759A>C (n.485+18759A>C) c.1142T>G (p.Leu381Arg) c.1457T>G (p.Leu486Arg) c.1412T>G (p.Leu471Arg) c.1319T>G (p.Leu440Arg) | |
9 | g.36222938A>G | CA373426734 | CLTA,GNE | c.1565T>C (p.Leu522Pro) c.1295T>C (p.Leu432Pro) c.1472T>C (p.Leu491Pro) c.1411+435T>C (n.1411+435T>C) c.485+18759A>G (n.485+18759A>G) c.1142T>C (p.Leu381Pro) c.1457T>C (p.Leu486Pro) c.1412T>C (p.Leu471Pro) c.1319T>C (p.Leu440Pro) | |
9 | g.36222938A>T | CA373426735 | CLTA,GNE | c.1565T>A (p.Leu522Gln) c.1295T>A (p.Leu432Gln) c.1472T>A (p.Leu491Gln) c.1411+435T>A (n.1411+435T>A) c.485+18759A>T (n.485+18759A>T) c.1142T>A (p.Leu381Gln) c.1457T>A (p.Leu486Gln) c.1412T>A (p.Leu471Gln) c.1319T>A (p.Leu440Gln) | |
9 | g.36222939G>A | CA464495250 | CLTA,GNE | c.1564C>T (p.Leu522=) c.1294C>T (p.Leu432=) c.1471C>T (p.Leu491=) c.1411+434C>T (n.1411+434C>T) c.485+18760G>A (n.485+18760G>A) c.1141C>T (p.Leu381=) c.1456C>T (p.Leu486=) c.1411C>T (p.Leu471=) c.1318C>T (p.Leu440=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36222939G>C | CA373426739 | CLTA,GNE | c.1564C>G (p.Leu522Val) c.1294C>G (p.Leu432Val) c.1471C>G (p.Leu491Val) c.1411+434C>G (n.1411+434C>G) c.485+18760G>C (n.485+18760G>C) c.1141C>G (p.Leu381Val) c.1456C>G (p.Leu486Val) c.1411C>G (p.Leu471Val) c.1318C>G (p.Leu440Val) | |
9 | g.36222939G= | CA1846333708 | CLTA,GNE | c.1564C= (p.Leu522=) c.1294C= (p.Leu432=) c.1471C= (p.Leu491=) c.1411+434C= (n.1411+434C=) c.485+18760G= (n.485+18760G=) c.1141C= (p.Leu381=) c.1456C= (p.Leu486=) c.1411C= (p.Leu471=) c.1318C= (p.Leu440=) | |
9 | g.36222939G>T | CA373426740 | CLTA,GNE | c.1564C>A (p.Leu522Met) c.1294C>A (p.Leu432Met) c.1471C>A (p.Leu491Met) c.1411+434C>A (n.1411+434C>A) c.485+18760G>T (n.485+18760G>T) c.1141C>A (p.Leu381Met) c.1456C>A (p.Leu486Met) c.1411C>A (p.Leu471Met) c.1318C>A (p.Leu440Met) | |
9 | g.36222940T>A | CA373426744 | CLTA,GNE | c.1563A>T (p.Lys521Asn) c.1293A>T (p.Lys431Asn) c.1470A>T (p.Lys490Asn) c.1411+433A>T (n.1411+433A>T) c.485+18761T>A (n.485+18761T>A) c.1140A>T (p.Lys380Asn) c.1455A>T (p.Lys485Asn) c.1410A>T (p.Lys470Asn) c.1317A>T (p.Lys439Asn) | |
9 | g.36222940T>C | CA464495251 | CLTA,GNE | c.1563A>G (p.Lys521=) c.1293A>G (p.Lys431=) c.1470A>G (p.Lys490=) c.1411+433A>G (n.1411+433A>G) c.485+18761T>C (n.485+18761T>C) c.1140A>G (p.Lys380=) c.1455A>G (p.Lys485=) c.1410A>G (p.Lys470=) c.1317A>G (p.Lys439=) | ClinVar gnomAD v4 |
9 | g.36222940T>G | CA373426745 | CLTA,GNE | c.1563A>C (p.Lys521Asn) c.1293A>C (p.Lys431Asn) c.1470A>C (p.Lys490Asn) c.1411+433A>C (n.1411+433A>C) c.485+18761T>G (n.485+18761T>G) c.1140A>C (p.Lys380Asn) c.1455A>C (p.Lys485Asn) c.1410A>C (p.Lys470Asn) c.1317A>C (p.Lys439Asn) | |
9 | g.36222941T>A | CA373426746 | CLTA,GNE | c.1562A>T (p.Lys521Ile) c.1292A>T (p.Lys431Ile) c.1469A>T (p.Lys490Ile) c.1411+432A>T (n.1411+432A>T) c.485+18762T>A (n.485+18762T>A) c.1139A>T (p.Lys380Ile) c.1454A>T (p.Lys485Ile) c.1409A>T (p.Lys470Ile) c.1316A>T (p.Lys439Ile) | |
9 | g.36222941T>C | CA373426747 | CLTA,GNE | c.1562A>G (p.Lys521Arg) c.1292A>G (p.Lys431Arg) c.1469A>G (p.Lys490Arg) c.1411+432A>G (n.1411+432A>G) c.485+18762T>C (n.485+18762T>C) c.1139A>G (p.Lys380Arg) c.1454A>G (p.Lys485Arg) c.1409A>G (p.Lys470Arg) c.1316A>G (p.Lys439Arg) | |
9 | g.36222941T>G | CA373426749 | CLTA,GNE | c.1562A>C (p.Lys521Thr) c.1292A>C (p.Lys431Thr) c.1469A>C (p.Lys490Thr) c.1411+432A>C (n.1411+432A>C) c.485+18762T>G (n.485+18762T>G) c.1139A>C (p.Lys380Thr) c.1454A>C (p.Lys485Thr) c.1409A>C (p.Lys470Thr) c.1316A>C (p.Lys439Thr) | |
9 | g.36222942T>A | CA373426751 | CLTA,GNE | c.1561A>T (p.Lys521Ter) c.1291A>T (p.Lys431Ter) c.1468A>T (p.Lys490Ter) c.1411+431A>T (n.1411+431A>T) c.485+18763T>A (n.485+18763T>A) c.1138A>T (p.Lys380Ter) c.1453A>T (p.Lys485Ter) c.1408A>T (p.Lys470Ter) c.1315A>T (p.Lys439Ter) | ClinVar dbSNP gnomAD v4 |
9 | g.36222942T>C | CA373426752 | CLTA,GNE | c.1561A>G (p.Lys521Glu) c.1291A>G (p.Lys431Glu) c.1468A>G (p.Lys490Glu) c.1411+431A>G (n.1411+431A>G) c.485+18763T>C (n.485+18763T>C) c.1138A>G (p.Lys380Glu) c.1453A>G (p.Lys485Glu) c.1408A>G (p.Lys470Glu) c.1315A>G (p.Lys439Glu) | |
9 | g.36222942T>G | CA373426753 | CLTA,GNE | c.1561A>C (p.Lys521Gln) c.1291A>C (p.Lys431Gln) c.1468A>C (p.Lys490Gln) c.1411+431A>C (n.1411+431A>C) c.485+18763T>G (n.485+18763T>G) c.1138A>C (p.Lys380Gln) c.1453A>C (p.Lys485Gln) c.1408A>C (p.Lys470Gln) c.1315A>C (p.Lys439Gln) | |
9 | g.36222942T= | CA1846333719 | CLTA,GNE | c.1561A= (p.Lys521=) c.1291A= (p.Lys431=) c.1468A= (p.Lys490=) c.1411+431A= (n.1411+431A=) c.485+18763T= (n.485+18763T=) c.1138A= (p.Lys380=) c.1453A= (p.Lys485=) c.1408A= (p.Lys470=) c.1315A= (p.Lys439=) | |
9 | g.36222943G>A | CA464495252 | CLTA,GNE | c.1560C>T (p.Thr520=) c.1290C>T (p.Thr430=) c.1467C>T (p.Thr489=) c.1411+430C>T (n.1411+430C>T) c.485+18764G>A (n.485+18764G>A) c.1137C>T (p.Thr379=) c.1452C>T (p.Thr484=) c.1407C>T (p.Thr469=) c.1314C>T (p.Thr438=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36222943G>C | CA464495254 | CLTA,GNE | c.1560C>G (p.Thr520=) c.1290C>G (p.Thr430=) c.1467C>G (p.Thr489=) c.1411+430C>G (n.1411+430C>G) c.485+18764G>C (n.485+18764G>C) c.1137C>G (p.Thr379=) c.1452C>G (p.Thr484=) c.1407C>G (p.Thr469=) c.1314C>G (p.Thr438=) | |
9 | g.36222943G= | CA1846333726 | CLTA,GNE | c.1560C= (p.Thr520=) c.1290C= (p.Thr430=) c.1467C= (p.Thr489=) c.1411+430C= (n.1411+430C=) c.485+18764G= (n.485+18764G=) c.1137C= (p.Thr379=) c.1452C= (p.Thr484=) c.1407C= (p.Thr469=) c.1314C= (p.Thr438=) | |
9 | g.36222943G>T | CA464495253 | CLTA,GNE | c.1560C>A (p.Thr520=) c.1290C>A (p.Thr430=) c.1467C>A (p.Thr489=) c.1411+430C>A (n.1411+430C>A) c.485+18764G>T (n.485+18764G>T) c.1137C>A (p.Thr379=) c.1452C>A (p.Thr484=) c.1407C>A (p.Thr469=) c.1314C>A (p.Thr438=) | |
9 | g.36222944G>A | CA373426760 | CLTA,GNE | c.1559C>T (p.Thr520Ile) c.1289C>T (p.Thr430Ile) c.1466C>T (p.Thr489Ile) c.1411+429C>T (n.1411+429C>T) c.485+18765G>A (n.485+18765G>A) c.1136C>T (p.Thr379Ile) c.1451C>T (p.Thr484Ile) c.1406C>T (p.Thr469Ile) c.1313C>T (p.Thr438Ile) | ClinVar |
9 | g.36222944G>C | CA373426758 | CLTA,GNE | c.1559C>G (p.Thr520Ser) c.1289C>G (p.Thr430Ser) c.1466C>G (p.Thr489Ser) c.1411+429C>G (n.1411+429C>G) c.485+18765G>C (n.485+18765G>C) c.1136C>G (p.Thr379Ser) c.1451C>G (p.Thr484Ser) c.1406C>G (p.Thr469Ser) c.1313C>G (p.Thr438Ser) | |
9 | g.36222944G>T | CA373426756 | CLTA,GNE | c.1559C>A (p.Thr520Asn) c.1289C>A (p.Thr430Asn) c.1466C>A (p.Thr489Asn) c.1411+429C>A (n.1411+429C>A) c.485+18765G>T (n.485+18765G>T) c.1136C>A (p.Thr379Asn) c.1451C>A (p.Thr484Asn) c.1406C>A (p.Thr469Asn) c.1313C>A (p.Thr438Asn) | |
9 | g.36222945T>A | CA373426762 | CLTA,GNE | c.1558A>T (p.Thr520Ser) c.1288A>T (p.Thr430Ser) c.1465A>T (p.Thr489Ser) c.1411+428A>T (n.1411+428A>T) c.485+18766T>A (n.485+18766T>A) c.1135A>T (p.Thr379Ser) c.1450A>T (p.Thr484Ser) c.1405A>T (p.Thr469Ser) c.1312A>T (p.Thr438Ser) | |
9 | g.36222945T>C | CA373426761 | CLTA,GNE | c.1558A>G (p.Thr520Ala) c.1288A>G (p.Thr430Ala) c.1465A>G (p.Thr489Ala) c.1411+428A>G (n.1411+428A>G) c.485+18766T>C (n.485+18766T>C) c.1135A>G (p.Thr379Ala) c.1450A>G (p.Thr484Ala) c.1405A>G (p.Thr469Ala) c.1312A>G (p.Thr438Ala) | |
9 | g.36222945T>G | CA373426763 | CLTA,GNE | c.1558A>C (p.Thr520Pro) c.1288A>C (p.Thr430Pro) c.1465A>C (p.Thr489Pro) c.1411+428A>C (n.1411+428A>C) c.485+18766T>G (n.485+18766T>G) c.1135A>C (p.Thr379Pro) c.1450A>C (p.Thr484Pro) c.1405A>C (p.Thr469Pro) c.1312A>C (p.Thr438Pro) | |
9 | g.36222946T>A | CA464495255 | CLTA,GNE | c.1557A>T (p.Ser519=) c.1287A>T (p.Ser429=) c.1464A>T (p.Ser488=) c.1411+427A>T (n.1411+427A>T) c.485+18767T>A (n.485+18767T>A) c.1134A>T (p.Ser378=) c.1449A>T (p.Ser483=) c.1404A>T (p.Ser468=) c.1311A>T (p.Ser437=) | |
9 | g.36222946T>C | CA5056477 | CLTA,GNE | c.1557A>G (p.Ser519=) c.1287A>G (p.Ser429=) c.1464A>G (p.Ser488=) c.1411+427A>G (n.1411+427A>G) c.485+18767T>C (n.485+18767T>C) c.1134A>G (p.Ser378=) c.1449A>G (p.Ser483=) c.1404A>G (p.Ser468=) c.1311A>G (p.Ser437=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222946T>G | CA464495256 | CLTA,GNE | c.1557A>C (p.Ser519=) c.1287A>C (p.Ser429=) c.1464A>C (p.Ser488=) c.1411+427A>C (n.1411+427A>C) c.485+18767T>G (n.485+18767T>G) c.1134A>C (p.Ser378=) c.1449A>C (p.Ser483=) c.1404A>C (p.Ser468=) c.1311A>C (p.Ser437=) | |
9 | g.36222946T= | CA1846333733 | CLTA,GNE | c.1557A= (p.Ser519=) c.1287A= (p.Ser429=) c.1464A= (p.Ser488=) c.1411+427A= (n.1411+427A=) c.485+18767T= (n.485+18767T=) c.1134A= (p.Ser378=) c.1449A= (p.Ser483=) c.1404A= (p.Ser468=) c.1311A= (p.Ser437=) | |
9 | g.36222947G>A | CA373426765 | CLTA,GNE | c.1556C>T (p.Ser519Leu) c.1286C>T (p.Ser429Leu) c.1463C>T (p.Ser488Leu) c.1411+426C>T (n.1411+426C>T) c.485+18768G>A (n.485+18768G>A) c.1133C>T (p.Ser378Leu) c.1448C>T (p.Ser483Leu) c.1403C>T (p.Ser468Leu) c.1310C>T (p.Ser437Leu) | |
9 | g.36222947G>C | CA373426764 | CLTA,GNE | c.1556C>G (p.Ser519Ter) c.1286C>G (p.Ser429Ter) c.1463C>G (p.Ser488Ter) c.1411+426C>G (n.1411+426C>G) c.485+18768G>C (n.485+18768G>C) c.1133C>G (p.Ser378Ter) c.1448C>G (p.Ser483Ter) c.1403C>G (p.Ser468Ter) c.1310C>G (p.Ser437Ter) | |
9 | g.36222947G>T | CA373426766 | CLTA,GNE | c.1556C>A (p.Ser519Ter) c.1286C>A (p.Ser429Ter) c.1463C>A (p.Ser488Ter) c.1411+426C>A (n.1411+426C>A) c.485+18768G>T (n.485+18768G>T) c.1133C>A (p.Ser378Ter) c.1448C>A (p.Ser483Ter) c.1403C>A (p.Ser468Ter) c.1310C>A (p.Ser437Ter) | |
9 | g.36222948A>C | CA373426767 | CLTA,GNE | c.1555T>G (p.Ser519Ala) c.1285T>G (p.Ser429Ala) c.1462T>G (p.Ser488Ala) c.1411+425T>G (n.1411+425T>G) c.485+18769A>C (n.485+18769A>C) c.1132T>G (p.Ser378Ala) c.1447T>G (p.Ser483Ala) c.1402T>G (p.Ser468Ala) c.1309T>G (p.Ser437Ala) | gnomAD v4 |
9 | g.36222948A>G | CA373426768 | CLTA,GNE | c.1555T>C (p.Ser519Pro) c.1285T>C (p.Ser429Pro) c.1462T>C (p.Ser488Pro) c.1411+425T>C (n.1411+425T>C) c.485+18769A>G (n.485+18769A>G) c.1132T>C (p.Ser378Pro) c.1447T>C (p.Ser483Pro) c.1402T>C (p.Ser468Pro) c.1309T>C (p.Ser437Pro) | |
9 | g.36222948A>T | CA373426769 | CLTA,GNE | c.1555T>A (p.Ser519Thr) c.1285T>A (p.Ser429Thr) c.1462T>A (p.Ser488Thr) c.1411+425T>A (n.1411+425T>A) c.485+18769A>T (n.485+18769A>T) c.1132T>A (p.Ser378Thr) c.1447T>A (p.Ser483Thr) c.1402T>A (p.Ser468Thr) c.1309T>A (p.Ser437Thr) | |
9 | g.36222949A>C | CA373426770 | CLTA,GNE | c.1554T>G (p.His518Gln) c.1284T>G (p.His428Gln) c.1461T>G (p.His487Gln) c.1411+424T>G (n.1411+424T>G) c.485+18770A>C (n.485+18770A>C) c.1131T>G (p.His377Gln) c.1446T>G (p.His482Gln) c.1401T>G (p.His467Gln) c.1308T>G (p.His436Gln) | |
9 | g.36222949A>G | CA464495257 | CLTA,GNE | c.1554T>C (p.His518=) c.1284T>C (p.His428=) c.1461T>C (p.His487=) c.1411+424T>C (n.1411+424T>C) c.485+18770A>G (n.485+18770A>G) c.1131T>C (p.His377=) c.1446T>C (p.His482=) c.1401T>C (p.His467=) c.1308T>C (p.His436=) | ClinVar |
9 | g.36222949A>T | CA373426771 | CLTA,GNE | c.1554T>A (p.His518Gln) c.1284T>A (p.His428Gln) c.1461T>A (p.His487Gln) c.1411+424T>A (n.1411+424T>A) c.485+18770A>T (n.485+18770A>T) c.1131T>A (p.His377Gln) c.1446T>A (p.His482Gln) c.1401T>A (p.His467Gln) c.1308T>A (p.His436Gln) | gnomAD v4 |
9 | g.36222950T>A | CA373426772 | CLTA,GNE | c.1553A>T (p.His518Leu) c.1283A>T (p.His428Leu) c.1460A>T (p.His487Leu) c.1411+423A>T (n.1411+423A>T) c.485+18771T>A (n.485+18771T>A) c.1130A>T (p.His377Leu) c.1445A>T (p.His482Leu) c.1400A>T (p.His467Leu) c.1307A>T (p.His436Leu) | |
9 | g.36222950T>C | CA373426773 | CLTA,GNE | c.1553A>G (p.His518Arg) c.1283A>G (p.His428Arg) c.1460A>G (p.His487Arg) c.1411+423A>G (n.1411+423A>G) c.485+18771T>C (n.485+18771T>C) c.1130A>G (p.His377Arg) c.1445A>G (p.His482Arg) c.1400A>G (p.His467Arg) c.1307A>G (p.His436Arg) | ClinVar dbSNP gnomAD v4 |
9 | g.36222950T>G | CA373426774 | CLTA,GNE | c.1553A>C (p.His518Pro) c.1283A>C (p.His428Pro) c.1460A>C (p.His487Pro) c.1411+423A>C (n.1411+423A>C) c.485+18771T>G (n.485+18771T>G) c.1130A>C (p.His377Pro) c.1445A>C (p.His482Pro) c.1400A>C (p.His467Pro) c.1307A>C (p.His436Pro) | gnomAD v4 |
9 | g.36222950T= | CA1846333739 | CLTA,GNE | c.1553A= (p.His518=) c.1283A= (p.His428=) c.1460A= (p.His487=) c.1411+423A= (n.1411+423A=) c.485+18771T= (n.485+18771T=) c.1130A= (p.His377=) c.1445A= (p.His482=) c.1400A= (p.His467=) c.1307A= (p.His436=) | |
9 | g.36222951G>A | CA373426775 | CLTA,GNE | c.1552C>T (p.His518Tyr) c.1282C>T (p.His428Tyr) c.1459C>T (p.His487Tyr) c.1411+422C>T (n.1411+422C>T) c.485+18772G>A (n.485+18772G>A) c.1129C>T (p.His377Tyr) c.1444C>T (p.His482Tyr) c.1399C>T (p.His467Tyr) c.1306C>T (p.His436Tyr) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36222951G>C | CA373426776 | CLTA,GNE | c.1552C>G (p.His518Asp) c.1282C>G (p.His428Asp) c.1459C>G (p.His487Asp) c.1411+422C>G (n.1411+422C>G) c.485+18772G>C (n.485+18772G>C) c.1129C>G (p.His377Asp) c.1444C>G (p.His482Asp) c.1399C>G (p.His467Asp) c.1306C>G (p.His436Asp) | |
9 | g.36222951G= | CA1846333743 | CLTA,GNE | c.1552C= (p.His518=) c.1282C= (p.His428=) c.1459C= (p.His487=) c.1411+422C= (n.1411+422C=) c.485+18772G= (n.485+18772G=) c.1129C= (p.His377=) c.1444C= (p.His482=) c.1399C= (p.His467=) c.1306C= (p.His436=) | |
9 | g.36222951G>T | CA373426778 | CLTA,GNE | c.1552C>A (p.His518Asn) c.1282C>A (p.His428Asn) c.1459C>A (p.His487Asn) c.1411+422C>A (n.1411+422C>A) c.485+18772G>T (n.485+18772G>T) c.1129C>A (p.His377Asn) c.1444C>A (p.His482Asn) c.1399C>A (p.His467Asn) c.1306C>A (p.His436Asn) |