Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.36222779G>A | CA373426028 | CLTA,GNE | c.1724C>T (p.Thr575Ile) c.1454C>T (p.Thr485Ile) c.1631C>T (p.Thr544Ile) c.1411+594C>T (n.1411+594C>T) c.485+18600G>A (n.485+18600G>A) c.1301C>T (p.Thr434Ile) c.1616C>T (p.Thr539Ile) c.1571C>T (p.Thr524Ile) c.1478C>T (p.Thr493Ile) | gnomAD v4 |
9 | g.36222779G>C | CA373426029 | CLTA,GNE | c.1724C>G (p.Thr575Arg) c.1454C>G (p.Thr485Arg) c.1631C>G (p.Thr544Arg) c.1411+594C>G (n.1411+594C>G) c.485+18600G>C (n.485+18600G>C) c.1301C>G (p.Thr434Arg) c.1616C>G (p.Thr539Arg) c.1571C>G (p.Thr524Arg) c.1478C>G (p.Thr493Arg) | |
9 | g.36222779G>T | CA373426031 | CLTA,GNE | c.1724C>A (p.Thr575Lys) c.1454C>A (p.Thr485Lys) c.1631C>A (p.Thr544Lys) c.1411+594C>A (n.1411+594C>A) c.485+18600G>T (n.485+18600G>T) c.1301C>A (p.Thr434Lys) c.1616C>A (p.Thr539Lys) c.1571C>A (p.Thr524Lys) c.1478C>A (p.Thr493Lys) | gnomAD v4 |
9 | g.36222780T>A | CA373426034 | CLTA,GNE | c.1723A>T (p.Thr575Ser) c.1453A>T (p.Thr485Ser) c.1630A>T (p.Thr544Ser) c.1411+593A>T (n.1411+593A>T) c.485+18601T>A (n.485+18601T>A) c.1300A>T (p.Thr434Ser) c.1615A>T (p.Thr539Ser) c.1570A>T (p.Thr524Ser) c.1477A>T (p.Thr493Ser) | |
9 | g.36222780T>C | CA373426035 | CLTA,GNE | c.1723A>G (p.Thr575Ala) c.1453A>G (p.Thr485Ala) c.1630A>G (p.Thr544Ala) c.1411+593A>G (n.1411+593A>G) c.485+18601T>C (n.485+18601T>C) c.1300A>G (p.Thr434Ala) c.1615A>G (p.Thr539Ala) c.1570A>G (p.Thr524Ala) c.1477A>G (p.Thr493Ala) | |
9 | g.36222780T>G | CA373426033 | CLTA,GNE | c.1723A>C (p.Thr575Pro) c.1453A>C (p.Thr485Pro) c.1630A>C (p.Thr544Pro) c.1411+593A>C (n.1411+593A>C) c.485+18601T>G (n.485+18601T>G) c.1300A>C (p.Thr434Pro) c.1615A>C (p.Thr539Pro) c.1570A>C (p.Thr524Pro) c.1477A>C (p.Thr493Pro) | |
9 | g.36222781G>A | CA464495143 | CLTA,GNE | c.1722C>T (p.Gly574=) c.1452C>T (p.Gly484=) c.1629C>T (p.Gly543=) c.1411+592C>T (n.1411+592C>T) c.485+18602G>A (n.485+18602G>A) c.1299C>T (p.Gly433=) c.1614C>T (p.Gly538=) c.1569C>T (p.Gly523=) c.1476C>T (p.Gly492=) | |
9 | g.36222781G>C | CA464495144 | CLTA,GNE | c.1722C>G (p.Gly574=) c.1452C>G (p.Gly484=) c.1629C>G (p.Gly543=) c.1411+592C>G (n.1411+592C>G) c.485+18602G>C (n.485+18602G>C) c.1299C>G (p.Gly433=) c.1614C>G (p.Gly538=) c.1569C>G (p.Gly523=) c.1476C>G (p.Gly492=) | |
9 | g.36222781G>T | CA464495145 | CLTA,GNE | c.1722C>A (p.Gly574=) c.1452C>A (p.Gly484=) c.1629C>A (p.Gly543=) c.1411+592C>A (n.1411+592C>A) c.485+18602G>T (n.485+18602G>T) c.1299C>A (p.Gly433=) c.1614C>A (p.Gly538=) c.1569C>A (p.Gly523=) c.1476C>A (p.Gly492=) | gnomAD v4 |
9 | g.36222782C>A | CA373426039 | CLTA,GNE | c.1721G>T (p.Gly574Val) c.1451G>T (p.Gly484Val) c.1628G>T (p.Gly543Val) c.1411+591G>T (n.1411+591G>T) c.485+18603C>A (n.485+18603C>A) c.1298G>T (p.Gly433Val) c.1613G>T (p.Gly538Val) c.1568G>T (p.Gly523Val) c.1475G>T (p.Gly492Val) | |
9 | g.36222782C= | CA1846333229 | CLTA,GNE | c.1721G= (p.Gly574=) c.1451G= (p.Gly484=) c.1628G= (p.Gly543=) c.1411+591G= (n.1411+591G=) c.485+18603C= (n.485+18603C=) c.1298G= (p.Gly433=) c.1613G= (p.Gly538=) c.1568G= (p.Gly523=) c.1475G= (p.Gly492=) | |
9 | g.36222782C>G | CA373426037 | CLTA,GNE | c.1721G>C (p.Gly574Ala) c.1451G>C (p.Gly484Ala) c.1628G>C (p.Gly543Ala) c.1411+591G>C (n.1411+591G>C) c.485+18603C>G (n.485+18603C>G) c.1298G>C (p.Gly433Ala) c.1613G>C (p.Gly538Ala) c.1568G>C (p.Gly523Ala) c.1475G>C (p.Gly492Ala) | |
9 | g.36222782C>T | CA373426038 | CLTA,GNE | c.1721G>A (p.Gly574Asp) c.1451G>A (p.Gly484Asp) c.1628G>A (p.Gly543Asp) c.1411+591G>A (n.1411+591G>A) c.485+18603C>T (n.485+18603C>T) c.1298G>A (p.Gly433Asp) c.1613G>A (p.Gly538Asp) c.1568G>A (p.Gly523Asp) c.1475G>A (p.Gly492Asp) | dbSNP gnomAD v4 |
9 | g.36222783C>A | CA373426041 | CLTA,GNE | c.1720G>T (p.Gly574Cys) c.1450G>T (p.Gly484Cys) c.1627G>T (p.Gly543Cys) c.1411+590G>T (n.1411+590G>T) c.485+18604C>A (n.485+18604C>A) c.1297G>T (p.Gly433Cys) c.1612G>T (p.Gly538Cys) c.1567G>T (p.Gly523Cys) c.1474G>T (p.Gly492Cys) | |
9 | g.36222783C>G | CA373426042 | CLTA,GNE | c.1720G>C (p.Gly574Arg) c.1450G>C (p.Gly484Arg) c.1627G>C (p.Gly543Arg) c.1411+590G>C (n.1411+590G>C) c.485+18604C>G (n.485+18604C>G) c.1297G>C (p.Gly433Arg) c.1612G>C (p.Gly538Arg) c.1567G>C (p.Gly523Arg) c.1474G>C (p.Gly492Arg) | |
9 | g.36222783C>T | CA373426043 | CLTA,GNE | c.1720G>A (p.Gly574Ser) c.1450G>A (p.Gly484Ser) c.1627G>A (p.Gly543Ser) c.1411+590G>A (n.1411+590G>A) c.485+18604C>T (n.485+18604C>T) c.1297G>A (p.Gly433Ser) c.1612G>A (p.Gly538Ser) c.1567G>A (p.Gly523Ser) c.1474G>A (p.Gly492Ser) | |
9 | g.36222784T>A | CA464495147 | CLTA,GNE | c.1719A>T (p.Thr573=) c.1449A>T (p.Thr483=) c.1626A>T (p.Thr542=) c.1411+589A>T (n.1411+589A>T) c.485+18605T>A (n.485+18605T>A) c.1296A>T (p.Thr432=) c.1611A>T (p.Thr537=) c.1566A>T (p.Thr522=) c.1473A>T (p.Thr491=) | |
9 | g.36222784T>C | CA464495148 | CLTA,GNE | c.1719A>G (p.Thr573=) c.1449A>G (p.Thr483=) c.1626A>G (p.Thr542=) c.1411+589A>G (n.1411+589A>G) c.485+18605T>C (n.485+18605T>C) c.1296A>G (p.Thr432=) c.1611A>G (p.Thr537=) c.1566A>G (p.Thr522=) c.1473A>G (p.Thr491=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36222784T>G | CA464495146 | CLTA,GNE | c.1719A>C (p.Thr573=) c.1449A>C (p.Thr483=) c.1626A>C (p.Thr542=) c.1411+589A>C (n.1411+589A>C) c.485+18605T>G (n.485+18605T>G) c.1296A>C (p.Thr432=) c.1611A>C (p.Thr537=) c.1566A>C (p.Thr522=) c.1473A>C (p.Thr491=) | |
9 | g.36222784T= | CA1846333234 | CLTA,GNE | c.1719A= (p.Thr573=) c.1449A= (p.Thr483=) c.1626A= (p.Thr542=) c.1411+589A= (n.1411+589A=) c.485+18605T= (n.485+18605T=) c.1296A= (p.Thr432=) c.1611A= (p.Thr537=) c.1566A= (p.Thr522=) c.1473A= (p.Thr491=) | |
9 | g.36222785G>A | CA373426044 | CLTA,GNE | c.1718C>T (p.Thr573Ile) c.1448C>T (p.Thr483Ile) c.1625C>T (p.Thr542Ile) c.1411+588C>T (n.1411+588C>T) c.485+18606G>A (n.485+18606G>A) c.1295C>T (p.Thr432Ile) c.1610C>T (p.Thr537Ile) c.1565C>T (p.Thr522Ile) c.1472C>T (p.Thr491Ile) | gnomAD v4 |
9 | g.36222785G>C | CA373426045 | CLTA,GNE | c.1718C>G (p.Thr573Arg) c.1448C>G (p.Thr483Arg) c.1625C>G (p.Thr542Arg) c.1411+588C>G (n.1411+588C>G) c.485+18606G>C (n.485+18606G>C) c.1295C>G (p.Thr432Arg) c.1610C>G (p.Thr537Arg) c.1565C>G (p.Thr522Arg) c.1472C>G (p.Thr491Arg) | |
9 | g.36222785G>T | CA373426047 | CLTA,GNE | c.1718C>A (p.Thr573Lys) c.1448C>A (p.Thr483Lys) c.1625C>A (p.Thr542Lys) c.1411+588C>A (n.1411+588C>A) c.485+18606G>T (n.485+18606G>T) c.1295C>A (p.Thr432Lys) c.1610C>A (p.Thr537Lys) c.1565C>A (p.Thr522Lys) c.1472C>A (p.Thr491Lys) | gnomAD v4 |
9 | g.36222786T>A | CA373426048 | CLTA,GNE | c.1717A>T (p.Thr573Ser) c.1447A>T (p.Thr483Ser) c.1624A>T (p.Thr542Ser) c.1411+587A>T (n.1411+587A>T) c.485+18607T>A (n.485+18607T>A) c.1294A>T (p.Thr432Ser) c.1609A>T (p.Thr537Ser) c.1564A>T (p.Thr522Ser) c.1471A>T (p.Thr491Ser) | |
9 | g.36222786T>C | CA373426050 | CLTA,GNE | c.1717A>G (p.Thr573Ala) c.1447A>G (p.Thr483Ala) c.1624A>G (p.Thr542Ala) c.1411+587A>G (n.1411+587A>G) c.485+18607T>C (n.485+18607T>C) c.1294A>G (p.Thr432Ala) c.1609A>G (p.Thr537Ala) c.1564A>G (p.Thr522Ala) c.1471A>G (p.Thr491Ala) | |
9 | g.36222786T>G | CA373426049 | CLTA,GNE | c.1717A>C (p.Thr573Pro) c.1447A>C (p.Thr483Pro) c.1624A>C (p.Thr542Pro) c.1411+587A>C (n.1411+587A>C) c.485+18607T>G (n.485+18607T>G) c.1294A>C (p.Thr432Pro) c.1609A>C (p.Thr537Pro) c.1564A>C (p.Thr522Pro) c.1471A>C (p.Thr491Pro) | |
9 | g.36222787G>A | CA464495149 | CLTA,GNE | c.1716C>T (p.Ile572=) c.1446C>T (p.Ile482=) c.1623C>T (p.Ile541=) c.1411+586C>T (n.1411+586C>T) c.485+18608G>A (n.485+18608G>A) c.1293C>T (p.Ile431=) c.1608C>T (p.Ile536=) c.1563C>T (p.Ile521=) c.1470C>T (p.Ile490=) | gnomAD v4 |
9 | g.36222787G>C | CA373426052 | CLTA,GNE | c.1716C>G (p.Ile572Met) c.1446C>G (p.Ile482Met) c.1623C>G (p.Ile541Met) c.1411+586C>G (n.1411+586C>G) c.485+18608G>C (n.485+18608G>C) c.1293C>G (p.Ile431Met) c.1608C>G (p.Ile536Met) c.1563C>G (p.Ile521Met) c.1470C>G (p.Ile490Met) | |
9 | g.36222787G>T | CA464495150 | CLTA,GNE | c.1716C>A (p.Ile572=) c.1446C>A (p.Ile482=) c.1623C>A (p.Ile541=) c.1411+586C>A (n.1411+586C>A) c.485+18608G>T (n.485+18608G>T) c.1293C>A (p.Ile431=) c.1608C>A (p.Ile536=) c.1563C>A (p.Ile521=) c.1470C>A (p.Ile490=) | |
9 | g.36222788A= | CA1846333239 | CLTA,GNE | c.1715T= (p.Ile572=) c.1445T= (p.Ile482=) c.1622T= (p.Ile541=) c.1411+585T= (n.1411+585T=) c.485+18609A= (n.485+18609A=) c.1292T= (p.Ile431=) c.1607T= (p.Ile536=) c.1562T= (p.Ile521=) c.1469T= (p.Ile490=) | |
9 | g.36222788A>C | CA373426054 | CLTA,GNE | c.1715T>G (p.Ile572Ser) c.1445T>G (p.Ile482Ser) c.1622T>G (p.Ile541Ser) c.1411+585T>G (n.1411+585T>G) c.485+18609A>C (n.485+18609A>C) c.1292T>G (p.Ile431Ser) c.1607T>G (p.Ile536Ser) c.1562T>G (p.Ile521Ser) c.1469T>G (p.Ile490Ser) | |
9 | g.36222788A>G | CA5056460 | CLTA,GNE | c.1715T>C (p.Ile572Thr) c.1445T>C (p.Ile482Thr) c.1622T>C (p.Ile541Thr) c.1411+585T>C (n.1411+585T>C) c.485+18609A>G (n.485+18609A>G) c.1292T>C (p.Ile431Thr) c.1607T>C (p.Ile536Thr) c.1562T>C (p.Ile521Thr) c.1469T>C (p.Ile490Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222788A>T | CA373426056 | CLTA,GNE | c.1715T>A (p.Ile572Asn) c.1445T>A (p.Ile482Asn) c.1622T>A (p.Ile541Asn) c.1411+585T>A (n.1411+585T>A) c.485+18609A>T (n.485+18609A>T) c.1292T>A (p.Ile431Asn) c.1607T>A (p.Ile536Asn) c.1562T>A (p.Ile521Asn) c.1469T>A (p.Ile490Asn) | |
9 | g.36222789T>A | CA373426058 | CLTA,GNE | c.1714A>T (p.Ile572Phe) c.1444A>T (p.Ile482Phe) c.1621A>T (p.Ile541Phe) c.1411+584A>T (n.1411+584A>T) c.485+18610T>A (n.485+18610T>A) c.1291A>T (p.Ile431Phe) c.1606A>T (p.Ile536Phe) c.1561A>T (p.Ile521Phe) c.1468A>T (p.Ile490Phe) | |
9 | g.36222789T>C | CA373426061 | CLTA,GNE | c.1714A>G (p.Ile572Val) c.1444A>G (p.Ile482Val) c.1621A>G (p.Ile541Val) c.1411+584A>G (n.1411+584A>G) c.485+18610T>C (n.485+18610T>C) c.1291A>G (p.Ile431Val) c.1606A>G (p.Ile536Val) c.1561A>G (p.Ile521Val) c.1468A>G (p.Ile490Val) | |
9 | g.36222789T>G | CA373426060 | CLTA,GNE | c.1714A>C (p.Ile572Leu) c.1444A>C (p.Ile482Leu) c.1621A>C (p.Ile541Leu) c.1411+584A>C (n.1411+584A>C) c.485+18610T>G (n.485+18610T>G) c.1291A>C (p.Ile431Leu) c.1606A>C (p.Ile536Leu) c.1561A>C (p.Ile521Leu) c.1468A>C (p.Ile490Leu) | |
9 | g.36222790A= | CA1846333244 | CLTA,GNE | c.1713T= (p.Leu571=) c.1443T= (p.Leu481=) c.1620T= (p.Leu540=) c.1411+583T= (n.1411+583T=) c.485+18611A= (n.485+18611A=) c.1290T= (p.Leu430=) c.1605T= (p.Leu535=) c.1560T= (p.Leu520=) c.1467T= (p.Leu489=) | |
9 | g.36222790A>C | CA464495151 | CLTA,GNE | c.1713T>G (p.Leu571=) c.1443T>G (p.Leu481=) c.1620T>G (p.Leu540=) c.1411+583T>G (n.1411+583T>G) c.485+18611A>C (n.485+18611A>C) c.1290T>G (p.Leu430=) c.1605T>G (p.Leu535=) c.1560T>G (p.Leu520=) c.1467T>G (p.Leu489=) | |
9 | g.36222790A>G | CA5056461 | CLTA,GNE | c.1713T>C (p.Leu571=) c.1443T>C (p.Leu481=) c.1620T>C (p.Leu540=) c.1411+583T>C (n.1411+583T>C) c.485+18611A>G (n.485+18611A>G) c.1290T>C (p.Leu430=) c.1605T>C (p.Leu535=) c.1560T>C (p.Leu520=) c.1467T>C (p.Leu489=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222790A>T | CA464495152 | CLTA,GNE | c.1713T>A (p.Leu571=) c.1443T>A (p.Leu481=) c.1620T>A (p.Leu540=) c.1411+583T>A (n.1411+583T>A) c.485+18611A>T (n.485+18611A>T) c.1290T>A (p.Leu430=) c.1605T>A (p.Leu535=) c.1560T>A (p.Leu520=) c.1467T>A (p.Leu489=) | |
9 | g.36222791A>C | CA373426064 | CLTA,GNE | c.1712T>G (p.Leu571Arg) c.1442T>G (p.Leu481Arg) c.1619T>G (p.Leu540Arg) c.1411+582T>G (n.1411+582T>G) c.485+18612A>C (n.485+18612A>C) c.1289T>G (p.Leu430Arg) c.1604T>G (p.Leu535Arg) c.1559T>G (p.Leu520Arg) c.1466T>G (p.Leu489Arg) | |
9 | g.36222791A>G | CA373426067 | CLTA,GNE | c.1712T>C (p.Leu571Pro) c.1442T>C (p.Leu481Pro) c.1619T>C (p.Leu540Pro) c.1411+582T>C (n.1411+582T>C) c.485+18612A>G (n.485+18612A>G) c.1289T>C (p.Leu430Pro) c.1604T>C (p.Leu535Pro) c.1559T>C (p.Leu520Pro) c.1466T>C (p.Leu489Pro) | |
9 | g.36222791A>T | CA373426069 | CLTA,GNE | c.1712T>A (p.Leu571His) c.1442T>A (p.Leu481His) c.1619T>A (p.Leu540His) c.1411+582T>A (n.1411+582T>A) c.485+18612A>T (n.485+18612A>T) c.1289T>A (p.Leu430His) c.1604T>A (p.Leu535His) c.1559T>A (p.Leu520His) c.1466T>A (p.Leu489His) | |
9 | g.36222792G>A | CA373426071 | CLTA,GNE | c.1711C>T (p.Leu571Phe) c.1441C>T (p.Leu481Phe) c.1618C>T (p.Leu540Phe) c.1411+581C>T (n.1411+581C>T) c.485+18613G>A (n.485+18613G>A) c.1288C>T (p.Leu430Phe) c.1603C>T (p.Leu535Phe) c.1558C>T (p.Leu520Phe) c.1465C>T (p.Leu489Phe) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36222792G>C | CA373426072 | CLTA,GNE | c.1711C>G (p.Leu571Val) c.1441C>G (p.Leu481Val) c.1618C>G (p.Leu540Val) c.1411+581C>G (n.1411+581C>G) c.485+18613G>C (n.485+18613G>C) c.1288C>G (p.Leu430Val) c.1603C>G (p.Leu535Val) c.1558C>G (p.Leu520Val) c.1465C>G (p.Leu489Val) | |
9 | g.36222792G= | CA1846333252 | CLTA,GNE | c.1711C= (p.Leu571=) c.1441C= (p.Leu481=) c.1618C= (p.Leu540=) c.1411+581C= (n.1411+581C=) c.485+18613G= (n.485+18613G=) c.1288C= (p.Leu430=) c.1603C= (p.Leu535=) c.1558C= (p.Leu520=) c.1465C= (p.Leu489=) | |
9 | g.36222792G>T | CA373426074 | CLTA,GNE | c.1711C>A (p.Leu571Ile) c.1441C>A (p.Leu481Ile) c.1618C>A (p.Leu540Ile) c.1411+581C>A (n.1411+581C>A) c.485+18613G>T (n.485+18613G>T) c.1288C>A (p.Leu430Ile) c.1603C>A (p.Leu535Ile) c.1558C>A (p.Leu520Ile) c.1465C>A (p.Leu489Ile) | |
9 | g.36222793T>A | CA464495153 | CLTA,GNE | c.1710A>T (p.Thr570=) c.1440A>T (p.Thr480=) c.1617A>T (p.Thr539=) c.1411+580A>T (n.1411+580A>T) c.485+18614T>A (n.485+18614T>A) c.1287A>T (p.Thr429=) c.1602A>T (p.Thr534=) c.1557A>T (p.Thr519=) c.1464A>T (p.Thr488=) | |
9 | g.36222793T>C | CA464495154 | CLTA,GNE | c.1710A>G (p.Thr570=) c.1440A>G (p.Thr480=) c.1617A>G (p.Thr539=) c.1411+580A>G (n.1411+580A>G) c.485+18614T>C (n.485+18614T>C) c.1287A>G (p.Thr429=) c.1602A>G (p.Thr534=) c.1557A>G (p.Thr519=) c.1464A>G (p.Thr488=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36222793T>G | CA464495155 | CLTA,GNE | c.1710A>C (p.Thr570=) c.1440A>C (p.Thr480=) c.1617A>C (p.Thr539=) c.1411+580A>C (n.1411+580A>C) c.485+18614T>G (n.485+18614T>G) c.1287A>C (p.Thr429=) c.1602A>C (p.Thr534=) c.1557A>C (p.Thr519=) c.1464A>C (p.Thr488=) | |
9 | g.36222793T= | CA1846333265 | CLTA,GNE | c.1710A= (p.Thr570=) c.1440A= (p.Thr480=) c.1617A= (p.Thr539=) c.1411+580A= (n.1411+580A=) c.485+18614T= (n.485+18614T=) c.1287A= (p.Thr429=) c.1602A= (p.Thr534=) c.1557A= (p.Thr519=) c.1464A= (p.Thr488=) | |
9 | g.36222793_36222801delinsTGTAACAAA | CA1846333262 | CLTA,GNE | c.1702_1710delinsTTTGTTACA (p.Phe568=) c.1432_1440delinsTTTGTTACA (p.Phe478=) c.1609_1617delinsTTTGTTACA (p.Phe537=) c.1411+572_1411+580delinsTTTGTTACA (n.1411+572_1411+580delinsTTTGTTACA) c.485+18614_485+18622delinsTGTAACAAA (n.485+18614_485+18622delinsTGTAACAAA) c.1279_1287delinsTTTGTTACA (p.Phe427=) c.1594_1602delinsTTTGTTACA (p.Phe532=) c.1549_1557delinsTTTGTTACA (p.Phe517=) c.1456_1464delinsTTTGTTACA (p.Phe486=) | |
9 | g.36222794del | CA2689945655 | CLTA,GNE | c.1709del (p.Thr570AsnfsTer18) c.1439del (p.Thr480AsnfsTer18) c.1616del (p.Thr539AsnfsTer18) c.1411+579del (n.1411+579del) c.485+18615del (n.485+18615del) c.1286del (p.Thr429AsnfsTer18) c.1601del (p.Thr534AsnfsTer18) c.1556del (p.Thr519AsnfsTer18) c.1463del (p.Thr488AsnfsTer18) | gnomAD v4 |
9 | g.36222794G>A | CA373426076 | CLTA,GNE | c.1709C>T (p.Thr570Ile) c.1439C>T (p.Thr480Ile) c.1616C>T (p.Thr539Ile) c.1411+579C>T (n.1411+579C>T) c.485+18615G>A (n.485+18615G>A) c.1286C>T (p.Thr429Ile) c.1601C>T (p.Thr534Ile) c.1556C>T (p.Thr519Ile) c.1463C>T (p.Thr488Ile) | ClinVar |
9 | g.36222794G>C | CA373426077 | CLTA,GNE | c.1709C>G (p.Thr570Arg) c.1439C>G (p.Thr480Arg) c.1616C>G (p.Thr539Arg) c.1411+579C>G (n.1411+579C>G) c.485+18615G>C (n.485+18615G>C) c.1286C>G (p.Thr429Arg) c.1601C>G (p.Thr534Arg) c.1556C>G (p.Thr519Arg) c.1463C>G (p.Thr488Arg) | |
9 | g.36222794G>T | CA373426079 | CLTA,GNE | c.1709C>A (p.Thr570Lys) c.1439C>A (p.Thr480Lys) c.1616C>A (p.Thr539Lys) c.1411+579C>A (n.1411+579C>A) c.485+18615G>T (n.485+18615G>T) c.1286C>A (p.Thr429Lys) c.1601C>A (p.Thr534Lys) c.1556C>A (p.Thr519Lys) c.1463C>A (p.Thr488Lys) | |
9 | g.36222796_36222803del | CA16041310 | CLTA,GNE | c.1702_1709del (p.Phe568ThrfsTer16) c.1432_1439del (p.Phe478ThrfsTer16) c.1609_1616del (p.Phe537ThrfsTer16) c.1411+572_1411+579del (n.1411+572_1411+579del) c.485+18617_485+18624del (n.485+18617_485+18624del) c.1279_1286del (p.Phe427ThrfsTer16) c.1594_1601del (p.Phe532ThrfsTer16) c.1549_1556del (p.Phe517ThrfsTer16) c.1456_1463del (p.Phe486ThrfsTer16) | ClinVar dbSNP gnomAD v4 |
9 | g.36222795T>A | CA373426081 | CLTA,GNE | c.1708A>T (p.Thr570Ser) c.1438A>T (p.Thr480Ser) c.1615A>T (p.Thr539Ser) c.1411+578A>T (n.1411+578A>T) c.485+18616T>A (n.485+18616T>A) c.1285A>T (p.Thr429Ser) c.1600A>T (p.Thr534Ser) c.1555A>T (p.Thr519Ser) c.1462A>T (p.Thr488Ser) | |
9 | g.36222795T>C | CA373426084 | CLTA,GNE | c.1708A>G (p.Thr570Ala) c.1438A>G (p.Thr480Ala) c.1615A>G (p.Thr539Ala) c.1411+578A>G (n.1411+578A>G) c.485+18616T>C (n.485+18616T>C) c.1285A>G (p.Thr429Ala) c.1600A>G (p.Thr534Ala) c.1555A>G (p.Thr519Ala) c.1462A>G (p.Thr488Ala) | |
9 | g.36222795T>G | CA373426082 | CLTA,GNE | c.1708A>C (p.Thr570Pro) c.1438A>C (p.Thr480Pro) c.1615A>C (p.Thr539Pro) c.1411+578A>C (n.1411+578A>C) c.485+18616T>G (n.485+18616T>G) c.1285A>C (p.Thr429Pro) c.1600A>C (p.Thr534Pro) c.1555A>C (p.Thr519Pro) c.1462A>C (p.Thr488Pro) | |
9 | g.36222796A>C | CA464495158 | CLTA,GNE | c.1707T>G (p.Val569=) c.1437T>G (p.Val479=) c.1614T>G (p.Val538=) c.1411+577T>G (n.1411+577T>G) c.485+18617A>C (n.485+18617A>C) c.1284T>G (p.Val428=) c.1599T>G (p.Val533=) c.1554T>G (p.Val518=) c.1461T>G (p.Val487=) | |
9 | g.36222796A>G | CA464495157 | CLTA,GNE | c.1707T>C (p.Val569=) c.1437T>C (p.Val479=) c.1614T>C (p.Val538=) c.1411+577T>C (n.1411+577T>C) c.485+18617A>G (n.485+18617A>G) c.1284T>C (p.Val428=) c.1599T>C (p.Val533=) c.1554T>C (p.Val518=) c.1461T>C (p.Val487=) | gnomAD v4 |
9 | g.36222796A>T | CA464495156 | CLTA,GNE | c.1707T>A (p.Val569=) c.1437T>A (p.Val479=) c.1614T>A (p.Val538=) c.1411+577T>A (n.1411+577T>A) c.485+18617A>T (n.485+18617A>T) c.1284T>A (p.Val428=) c.1599T>A (p.Val533=) c.1554T>A (p.Val518=) c.1461T>A (p.Val487=) | ClinVar dbSNP |
9 | g.36222797A= | CA1846333280 | CLTA,GNE | c.1706T= (p.Val569=) c.1436T= (p.Val479=) c.1613T= (p.Val538=) c.1411+576T= (n.1411+576T=) c.485+18618A= (n.485+18618A=) c.1283T= (p.Val428=) c.1598T= (p.Val533=) c.1553T= (p.Val518=) c.1460T= (p.Val487=) | |
9 | g.36222797A>C | CA373426086 | CLTA,GNE | c.1706T>G (p.Val569Gly) c.1436T>G (p.Val479Gly) c.1613T>G (p.Val538Gly) c.1411+576T>G (n.1411+576T>G) c.485+18618A>C (n.485+18618A>C) c.1283T>G (p.Val428Gly) c.1598T>G (p.Val533Gly) c.1553T>G (p.Val518Gly) c.1460T>G (p.Val487Gly) | |
9 | g.36222797A>G | CA373426089 | CLTA,GNE | c.1706T>C (p.Val569Ala) c.1436T>C (p.Val479Ala) c.1613T>C (p.Val538Ala) c.1411+576T>C (n.1411+576T>C) c.485+18618A>G (n.485+18618A>G) c.1283T>C (p.Val428Ala) c.1598T>C (p.Val533Ala) c.1553T>C (p.Val518Ala) c.1460T>C (p.Val487Ala) | ClinVar dbSNP |
9 | g.36222797A>T | CA373426091 | CLTA,GNE | c.1706T>A (p.Val569Asp) c.1436T>A (p.Val479Asp) c.1613T>A (p.Val538Asp) c.1411+576T>A (n.1411+576T>A) c.485+18618A>T (n.485+18618A>T) c.1283T>A (p.Val428Asp) c.1598T>A (p.Val533Asp) c.1553T>A (p.Val518Asp) c.1460T>A (p.Val487Asp) | |
9 | g.36222798C>A | CA373426093 | CLTA,GNE | c.1705G>T (p.Val569Phe) c.1435G>T (p.Val479Phe) c.1612G>T (p.Val538Phe) c.1411+575G>T (n.1411+575G>T) c.485+18619C>A (n.485+18619C>A) c.1282G>T (p.Val428Phe) c.1597G>T (p.Val533Phe) c.1552G>T (p.Val518Phe) c.1459G>T (p.Val487Phe) | |
9 | g.36222798C>G | CA373426094 | CLTA,GNE | c.1705G>C (p.Val569Leu) c.1435G>C (p.Val479Leu) c.1612G>C (p.Val538Leu) c.1411+575G>C (n.1411+575G>C) c.485+18619C>G (n.485+18619C>G) c.1282G>C (p.Val428Leu) c.1597G>C (p.Val533Leu) c.1552G>C (p.Val518Leu) c.1459G>C (p.Val487Leu) | |
9 | g.36222798C>T | CA373426095 | CLTA,GNE | c.1705G>A (p.Val569Ile) c.1435G>A (p.Val479Ile) c.1612G>A (p.Val538Ile) c.1411+575G>A (n.1411+575G>A) c.485+18619C>T (n.485+18619C>T) c.1282G>A (p.Val428Ile) c.1597G>A (p.Val533Ile) c.1552G>A (p.Val518Ile) c.1459G>A (p.Val487Ile) | |
9 | g.36222799A= | CA1846333287 | CLTA,GNE | c.1704T= (p.Phe568=) c.1434T= (p.Phe478=) c.1611T= (p.Phe537=) c.1411+574T= (n.1411+574T=) c.485+18620A= (n.485+18620A=) c.1281T= (p.Phe427=) c.1596T= (p.Phe532=) c.1551T= (p.Phe517=) c.1458T= (p.Phe486=) | |
9 | g.36222799A>C | CA373426097 | CLTA,GNE | c.1704T>G (p.Phe568Leu) c.1434T>G (p.Phe478Leu) c.1611T>G (p.Phe537Leu) c.1411+574T>G (n.1411+574T>G) c.485+18620A>C (n.485+18620A>C) c.1281T>G (p.Phe427Leu) c.1596T>G (p.Phe532Leu) c.1551T>G (p.Phe517Leu) c.1458T>G (p.Phe486Leu) | dbSNP |
9 | g.36222799A>G | CA464495159 | CLTA,GNE | c.1704T>C (p.Phe568=) c.1434T>C (p.Phe478=) c.1611T>C (p.Phe537=) c.1411+574T>C (n.1411+574T>C) c.485+18620A>G (n.485+18620A>G) c.1281T>C (p.Phe427=) c.1596T>C (p.Phe532=) c.1551T>C (p.Phe517=) c.1458T>C (p.Phe486=) | dbSNP gnomAD v2 |
9 | g.36222799A>T | CA373426099 | CLTA,GNE | c.1704T>A (p.Phe568Leu) c.1434T>A (p.Phe478Leu) c.1611T>A (p.Phe537Leu) c.1411+574T>A (n.1411+574T>A) c.485+18620A>T (n.485+18620A>T) c.1281T>A (p.Phe427Leu) c.1596T>A (p.Phe532Leu) c.1551T>A (p.Phe517Leu) c.1458T>A (p.Phe486Leu) | |
9 | g.36222800A>C | CA373426101 | CLTA,GNE | c.1703T>G (p.Phe568Cys) c.1433T>G (p.Phe478Cys) c.1610T>G (p.Phe537Cys) c.1411+573T>G (n.1411+573T>G) c.485+18621A>C (n.485+18621A>C) c.1280T>G (p.Phe427Cys) c.1595T>G (p.Phe532Cys) c.1550T>G (p.Phe517Cys) c.1457T>G (p.Phe486Cys) | |
9 | g.36222800A>G | CA373426102 | CLTA,GNE | c.1703T>C (p.Phe568Ser) c.1433T>C (p.Phe478Ser) c.1610T>C (p.Phe537Ser) c.1411+573T>C (n.1411+573T>C) c.485+18621A>G (n.485+18621A>G) c.1280T>C (p.Phe427Ser) c.1595T>C (p.Phe532Ser) c.1550T>C (p.Phe517Ser) c.1457T>C (p.Phe486Ser) | |
9 | g.36222800A>T | CA373426103 | CLTA,GNE | c.1703T>A (p.Phe568Tyr) c.1433T>A (p.Phe478Tyr) c.1610T>A (p.Phe537Tyr) c.1411+573T>A (n.1411+573T>A) c.485+18621A>T (n.485+18621A>T) c.1280T>A (p.Phe427Tyr) c.1595T>A (p.Phe532Tyr) c.1550T>A (p.Phe517Tyr) c.1457T>A (p.Phe486Tyr) | |
9 | g.36222801A= | CA1846333291 | CLTA,GNE | c.1702T= (p.Phe568=) c.1432T= (p.Phe478=) c.1609T= (p.Phe537=) c.1411+572T= (n.1411+572T=) c.485+18622A= (n.485+18622A=) c.1279T= (p.Phe427=) c.1594T= (p.Phe532=) c.1549T= (p.Phe517=) c.1456T= (p.Phe486=) | |
9 | g.36222801A>C | CA373426108 | CLTA,GNE | c.1702T>G (p.Phe568Val) c.1432T>G (p.Phe478Val) c.1609T>G (p.Phe537Val) c.1411+572T>G (n.1411+572T>G) c.485+18622A>C (n.485+18622A>C) c.1279T>G (p.Phe427Val) c.1594T>G (p.Phe532Val) c.1549T>G (p.Phe517Val) c.1456T>G (p.Phe486Val) | |
9 | g.36222801A>G | CA373426107 | CLTA,GNE | c.1702T>C (p.Phe568Leu) c.1432T>C (p.Phe478Leu) c.1609T>C (p.Phe537Leu) c.1411+572T>C (n.1411+572T>C) c.485+18622A>G (n.485+18622A>G) c.1279T>C (p.Phe427Leu) c.1594T>C (p.Phe532Leu) c.1549T>C (p.Phe517Leu) c.1456T>C (p.Phe486Leu) | ClinVar dbSNP |
9 | g.36222801A>T | CA373426105 | CLTA,GNE | c.1702T>A (p.Phe568Ile) c.1432T>A (p.Phe478Ile) c.1609T>A (p.Phe537Ile) c.1411+572T>A (n.1411+572T>A) c.485+18622A>T (n.485+18622A>T) c.1279T>A (p.Phe427Ile) c.1594T>A (p.Phe532Ile) c.1549T>A (p.Phe517Ile) c.1456T>A (p.Phe486Ile) | gnomAD v4 |
9 | g.36222802G>A | CA464495160 | CLTA,GNE | c.1701C>T (p.Asn567=) c.1431C>T (p.Asn477=) c.1608C>T (p.Asn536=) c.1411+571C>T (n.1411+571C>T) c.485+18623G>A (n.485+18623G>A) c.1278C>T (p.Asn426=) c.1593C>T (p.Asn531=) c.1548C>T (p.Asn516=) c.1455C>T (p.Asn485=) | |
9 | g.36222802G>C | CA373426110 | CLTA,GNE | c.1701C>G (p.Asn567Lys) c.1431C>G (p.Asn477Lys) c.1608C>G (p.Asn536Lys) c.1411+571C>G (n.1411+571C>G) c.485+18623G>C (n.485+18623G>C) c.1278C>G (p.Asn426Lys) c.1593C>G (p.Asn531Lys) c.1548C>G (p.Asn516Lys) c.1455C>G (p.Asn485Lys) | |
9 | g.36222802G>T | CA373426111 | CLTA,GNE | c.1701C>A (p.Asn567Lys) c.1431C>A (p.Asn477Lys) c.1608C>A (p.Asn536Lys) c.1411+571C>A (n.1411+571C>A) c.485+18623G>T (n.485+18623G>T) c.1278C>A (p.Asn426Lys) c.1593C>A (p.Asn531Lys) c.1548C>A (p.Asn516Lys) c.1455C>A (p.Asn485Lys) | gnomAD v4 |
9 | g.36222803T>A | CA373426112 | CLTA,GNE | c.1700A>T (p.Asn567Ile) c.1430A>T (p.Asn477Ile) c.1607A>T (p.Asn536Ile) c.1411+570A>T (n.1411+570A>T) c.485+18624T>A (n.485+18624T>A) c.1277A>T (p.Asn426Ile) c.1592A>T (p.Asn531Ile) c.1547A>T (p.Asn516Ile) c.1454A>T (p.Asn485Ile) | |
9 | g.36222803T>C | CA373426114 | CLTA,GNE | c.1700A>G (p.Asn567Ser) c.1430A>G (p.Asn477Ser) c.1607A>G (p.Asn536Ser) c.1411+570A>G (n.1411+570A>G) c.485+18624T>C (n.485+18624T>C) c.1277A>G (p.Asn426Ser) c.1592A>G (p.Asn531Ser) c.1547A>G (p.Asn516Ser) c.1454A>G (p.Asn485Ser) | |
9 | g.36222803T>G | CA373426115 | CLTA,GNE | c.1700A>C (p.Asn567Thr) c.1430A>C (p.Asn477Thr) c.1607A>C (p.Asn536Thr) c.1411+570A>C (n.1411+570A>C) c.485+18624T>G (n.485+18624T>G) c.1277A>C (p.Asn426Thr) c.1592A>C (p.Asn531Thr) c.1547A>C (p.Asn516Thr) c.1454A>C (p.Asn485Thr) | |
9 | g.36222804T>A | CA373426116 | CLTA,GNE | c.1699A>T (p.Asn567Tyr) c.1429A>T (p.Asn477Tyr) c.1606A>T (p.Asn536Tyr) c.1411+569A>T (n.1411+569A>T) c.485+18625T>A (n.485+18625T>A) c.1276A>T (p.Asn426Tyr) c.1591A>T (p.Asn531Tyr) c.1546A>T (p.Asn516Tyr) c.1453A>T (p.Asn485Tyr) | |
9 | g.36222804T>C | CA373426118 | CLTA,GNE | c.1699A>G (p.Asn567Asp) c.1429A>G (p.Asn477Asp) c.1606A>G (p.Asn536Asp) c.1411+569A>G (n.1411+569A>G) c.485+18625T>C (n.485+18625T>C) c.1276A>G (p.Asn426Asp) c.1591A>G (p.Asn531Asp) c.1546A>G (p.Asn516Asp) c.1453A>G (p.Asn485Asp) | |
9 | g.36222804T>G | CA192843479 | CLTA,GNE | c.1699A>C (p.Asn567His) c.1429A>C (p.Asn477His) c.1606A>C (p.Asn536His) c.1411+569A>C (n.1411+569A>C) c.485+18625T>G (n.485+18625T>G) c.1276A>C (p.Asn426His) c.1591A>C (p.Asn531His) c.1546A>C (p.Asn516His) c.1453A>C (p.Asn485His) | dbSNP |
9 | g.36222804T= | CA1846333297 | CLTA,GNE | c.1699A= (p.Asn567=) c.1429A= (p.Asn477=) c.1606A= (p.Asn536=) c.1411+569A= (n.1411+569A=) c.485+18625T= (n.485+18625T=) c.1276A= (p.Asn426=) c.1591A= (p.Asn531=) c.1546A= (p.Asn516=) c.1453A= (p.Asn485=) | |
9 | g.36222805T>A | CA373426121 | CLTA,GNE | c.1698A>T (p.Glu566Asp) c.1428A>T (p.Glu476Asp) c.1605A>T (p.Glu535Asp) c.1411+568A>T (n.1411+568A>T) c.485+18626T>A (n.485+18626T>A) c.1275A>T (p.Glu425Asp) c.1590A>T (p.Glu530Asp) c.1545A>T (p.Glu515Asp) c.1452A>T (p.Glu484Asp) | |
9 | g.36222805T>C | CA464495161 | CLTA,GNE | c.1698A>G (p.Glu566=) c.1428A>G (p.Glu476=) c.1605A>G (p.Glu535=) c.1411+568A>G (n.1411+568A>G) c.485+18626T>C (n.485+18626T>C) c.1275A>G (p.Glu425=) c.1590A>G (p.Glu530=) c.1545A>G (p.Glu515=) c.1452A>G (p.Glu484=) | |
9 | g.36222805T>G | CA373426122 | CLTA,GNE | c.1698A>C (p.Glu566Asp) c.1428A>C (p.Glu476Asp) c.1605A>C (p.Glu535Asp) c.1411+568A>C (n.1411+568A>C) c.485+18626T>G (n.485+18626T>G) c.1275A>C (p.Glu425Asp) c.1590A>C (p.Glu530Asp) c.1545A>C (p.Glu515Asp) c.1452A>C (p.Glu484Asp) | |
9 | g.36222806T>A | CA373426125 | CLTA,GNE | c.1697A>T (p.Glu566Val) c.1427A>T (p.Glu476Val) c.1604A>T (p.Glu535Val) c.1411+567A>T (n.1411+567A>T) c.485+18627T>A (n.485+18627T>A) c.1274A>T (p.Glu425Val) c.1589A>T (p.Glu530Val) c.1544A>T (p.Glu515Val) c.1451A>T (p.Glu484Val) | |
9 | g.36222806T>C | CA373426126 | CLTA,GNE | c.1697A>G (p.Glu566Gly) c.1427A>G (p.Glu476Gly) c.1604A>G (p.Glu535Gly) c.1411+567A>G (n.1411+567A>G) c.485+18627T>C (n.485+18627T>C) c.1274A>G (p.Glu425Gly) c.1589A>G (p.Glu530Gly) c.1544A>G (p.Glu515Gly) c.1451A>G (p.Glu484Gly) | |
9 | g.36222806T>G | CA373426127 | CLTA,GNE | c.1697A>C (p.Glu566Ala) c.1427A>C (p.Glu476Ala) c.1604A>C (p.Glu535Ala) c.1411+567A>C (n.1411+567A>C) c.485+18627T>G (n.485+18627T>G) c.1274A>C (p.Glu425Ala) c.1589A>C (p.Glu530Ala) c.1544A>C (p.Glu515Ala) c.1451A>C (p.Glu484Ala) | |
9 | g.36222807C>A | CA373426130 | CLTA,GNE | c.1696G>T (p.Glu566Ter) c.1426G>T (p.Glu476Ter) c.1603G>T (p.Glu535Ter) c.1411+566G>T (n.1411+566G>T) c.485+18628C>A (n.485+18628C>A) c.1273G>T (p.Glu425Ter) c.1588G>T (p.Glu530Ter) c.1543G>T (p.Glu515Ter) c.1450G>T (p.Glu484Ter) | |
9 | g.36222807C>G | CA373426132 | CLTA,GNE | c.1696G>C (p.Glu566Gln) c.1426G>C (p.Glu476Gln) c.1603G>C (p.Glu535Gln) c.1411+566G>C (n.1411+566G>C) c.485+18628C>G (n.485+18628C>G) c.1273G>C (p.Glu425Gln) c.1588G>C (p.Glu530Gln) c.1543G>C (p.Glu515Gln) c.1450G>C (p.Glu484Gln) | |
9 | g.36222807C>T | CA373426128 | CLTA,GNE | c.1696G>A (p.Glu566Lys) c.1426G>A (p.Glu476Lys) c.1603G>A (p.Glu535Lys) c.1411+566G>A (n.1411+566G>A) c.485+18628C>T (n.485+18628C>T) c.1273G>A (p.Glu425Lys) c.1588G>A (p.Glu530Lys) c.1543G>A (p.Glu515Lys) c.1450G>A (p.Glu484Lys) | |
9 | g.36222808C>A | CA464495162 | CLTA,GNE | c.1695G>T (p.Leu565=) c.1425G>T (p.Leu475=) c.1602G>T (p.Leu534=) c.1411+565G>T (n.1411+565G>T) c.485+18629C>A (n.485+18629C>A) c.1272G>T (p.Leu424=) c.1587G>T (p.Leu529=) c.1542G>T (p.Leu514=) c.1449G>T (p.Leu483=) | |
9 | g.36222808C>G | CA464495163 | CLTA,GNE | c.1695G>C (p.Leu565=) c.1425G>C (p.Leu475=) c.1602G>C (p.Leu534=) c.1411+565G>C (n.1411+565G>C) c.485+18629C>G (n.485+18629C>G) c.1272G>C (p.Leu424=) c.1587G>C (p.Leu529=) c.1542G>C (p.Leu514=) c.1449G>C (p.Leu483=) | |
9 | g.36222808C>T | CA464495164 | CLTA,GNE | c.1695G>A (p.Leu565=) c.1425G>A (p.Leu475=) c.1602G>A (p.Leu534=) c.1411+565G>A (n.1411+565G>A) c.485+18629C>T (n.485+18629C>T) c.1272G>A (p.Leu424=) c.1587G>A (p.Leu529=) c.1542G>A (p.Leu514=) c.1449G>A (p.Leu483=) | ClinVar dbSNP |
9 | g.36222809A>C | CA373426133 | CLTA,GNE | c.1694T>G (p.Leu565Arg) c.1424T>G (p.Leu475Arg) c.1601T>G (p.Leu534Arg) c.1411+564T>G (n.1411+564T>G) c.485+18630A>C (n.485+18630A>C) c.1271T>G (p.Leu424Arg) c.1586T>G (p.Leu529Arg) c.1541T>G (p.Leu514Arg) c.1448T>G (p.Leu483Arg) | |
9 | g.36222809A>G | CA373426135 | CLTA,GNE | c.1694T>C (p.Leu565Pro) c.1424T>C (p.Leu475Pro) c.1601T>C (p.Leu534Pro) c.1411+564T>C (n.1411+564T>C) c.485+18630A>G (n.485+18630A>G) c.1271T>C (p.Leu424Pro) c.1586T>C (p.Leu529Pro) c.1541T>C (p.Leu514Pro) c.1448T>C (p.Leu483Pro) | |
9 | g.36222809A>T | CA373426136 | CLTA,GNE | c.1694T>A (p.Leu565Gln) c.1424T>A (p.Leu475Gln) c.1601T>A (p.Leu534Gln) c.1411+564T>A (n.1411+564T>A) c.485+18630A>T (n.485+18630A>T) c.1271T>A (p.Leu424Gln) c.1586T>A (p.Leu529Gln) c.1541T>A (p.Leu514Gln) c.1448T>A (p.Leu483Gln) | |
9 | g.36222810G>A | CA464495165 | CLTA,GNE | c.1693C>T (p.Leu565=) c.1423C>T (p.Leu475=) c.1600C>T (p.Leu534=) c.1411+563C>T (n.1411+563C>T) c.485+18631G>A (n.485+18631G>A) c.1270C>T (p.Leu424=) c.1585C>T (p.Leu529=) c.1540C>T (p.Leu514=) c.1447C>T (p.Leu483=) | ClinVar |
9 | g.36222810G>C | CA5056462 | CLTA,GNE | c.1693C>G (p.Leu565Val) c.1423C>G (p.Leu475Val) c.1600C>G (p.Leu534Val) c.1411+563C>G (n.1411+563C>G) c.485+18631G>C (n.485+18631G>C) c.1270C>G (p.Leu424Val) c.1585C>G (p.Leu529Val) c.1540C>G (p.Leu514Val) c.1447C>G (p.Leu483Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222810G= | CA1846333302 | CLTA,GNE | c.1693C= (p.Leu565=) c.1423C= (p.Leu475=) c.1600C= (p.Leu534=) c.1411+563C= (n.1411+563C=) c.485+18631G= (n.485+18631G=) c.1270C= (p.Leu424=) c.1585C= (p.Leu529=) c.1540C= (p.Leu514=) c.1447C= (p.Leu483=) | |
9 | g.36222810G>T | CA373426139 | CLTA,GNE | c.1693C>A (p.Leu565Met) c.1423C>A (p.Leu475Met) c.1600C>A (p.Leu534Met) c.1411+563C>A (n.1411+563C>A) c.485+18631G>T (n.485+18631G>T) c.1270C>A (p.Leu424Met) c.1585C>A (p.Leu529Met) c.1540C>A (p.Leu514Met) c.1447C>A (p.Leu483Met) | |
9 | g.36222811T>A | CA464495166 | CLTA,GNE | c.1692A>T (p.Gly564=) c.1422A>T (p.Gly474=) c.1599A>T (p.Gly533=) c.1411+562A>T (n.1411+562A>T) c.485+18632T>A (n.485+18632T>A) c.1269A>T (p.Gly423=) c.1584A>T (p.Gly528=) c.1539A>T (p.Gly513=) c.1446A>T (p.Gly482=) | |
9 | g.36222811T>C | CA464495167 | CLTA,GNE | c.1692A>G (p.Gly564=) c.1422A>G (p.Gly474=) c.1599A>G (p.Gly533=) c.1411+562A>G (n.1411+562A>G) c.485+18632T>C (n.485+18632T>C) c.1269A>G (p.Gly423=) c.1584A>G (p.Gly528=) c.1539A>G (p.Gly513=) c.1446A>G (p.Gly482=) | |
9 | g.36222811T>G | CA464495168 | CLTA,GNE | c.1692A>C (p.Gly564=) c.1422A>C (p.Gly474=) c.1599A>C (p.Gly533=) c.1411+562A>C (n.1411+562A>C) c.485+18632T>G (n.485+18632T>G) c.1269A>C (p.Gly423=) c.1584A>C (p.Gly528=) c.1539A>C (p.Gly513=) c.1446A>C (p.Gly482=) | |
9 | g.36222812C>A | CA373426143 | CLTA,GNE | c.1691G>T (p.Gly564Val) c.1421G>T (p.Gly474Val) c.1598G>T (p.Gly533Val) c.1411+561G>T (n.1411+561G>T) c.485+18633C>A (n.485+18633C>A) c.1268G>T (p.Gly423Val) c.1583G>T (p.Gly528Val) c.1538G>T (p.Gly513Val) c.1445G>T (p.Gly482Val) | |
9 | g.36222812C= | CA1846333313 | CLTA,GNE | c.1691G= (p.Gly564=) c.1421G= (p.Gly474=) c.1598G= (p.Gly533=) c.1411+561G= (n.1411+561G=) c.485+18633C= (n.485+18633C=) c.1268G= (p.Gly423=) c.1583G= (p.Gly528=) c.1538G= (p.Gly513=) c.1445G= (p.Gly482=) | |
9 | g.36222812C>G | CA373426144 | CLTA,GNE | c.1691G>C (p.Gly564Ala) c.1421G>C (p.Gly474Ala) c.1598G>C (p.Gly533Ala) c.1411+561G>C (n.1411+561G>C) c.485+18633C>G (n.485+18633C>G) c.1268G>C (p.Gly423Ala) c.1583G>C (p.Gly528Ala) c.1538G>C (p.Gly513Ala) c.1445G>C (p.Gly482Ala) | dbSNP gnomAD v4 |
9 | g.36222812C>T | CA5056463 | CLTA,GNE | c.1691G>A (p.Gly564Glu) c.1421G>A (p.Gly474Glu) c.1598G>A (p.Gly533Glu) c.1411+561G>A (n.1411+561G>A) c.485+18633C>T (n.485+18633C>T) c.1268G>A (p.Gly423Glu) c.1583G>A (p.Gly528Glu) c.1538G>A (p.Gly513Glu) c.1445G>A (p.Gly482Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222813C>A | CA373426149 | CLTA,GNE | c.1690G>T (p.Gly564Ter) c.1420G>T (p.Gly474Ter) c.1597G>T (p.Gly533Ter) c.1411+560G>T (n.1411+560G>T) c.485+18634C>A (n.485+18634C>A) c.1267G>T (p.Gly423Ter) c.1582G>T (p.Gly528Ter) c.1537G>T (p.Gly513Ter) c.1444G>T (p.Gly482Ter) | |
9 | g.36222813C>G | CA373426151 | CLTA,GNE | c.1690G>C (p.Gly564Arg) c.1420G>C (p.Gly474Arg) c.1597G>C (p.Gly533Arg) c.1411+560G>C (n.1411+560G>C) c.485+18634C>G (n.485+18634C>G) c.1267G>C (p.Gly423Arg) c.1582G>C (p.Gly528Arg) c.1537G>C (p.Gly513Arg) c.1444G>C (p.Gly482Arg) | |
9 | g.36222813C>T | CA373426152 | CLTA,GNE | c.1690G>A (p.Gly564Arg) c.1420G>A (p.Gly474Arg) c.1597G>A (p.Gly533Arg) c.1411+560G>A (n.1411+560G>A) c.485+18634C>T (n.485+18634C>T) c.1267G>A (p.Gly423Arg) c.1582G>A (p.Gly528Arg) c.1537G>A (p.Gly513Arg) c.1444G>A (p.Gly482Arg) | |
9 | g.36222814C>A | CA373426154 | CLTA,GNE | c.1689G>T (p.Lys563Asn) c.1419G>T (p.Lys473Asn) c.1596G>T (p.Lys532Asn) c.1411+559G>T (n.1411+559G>T) c.485+18635C>A (n.485+18635C>A) c.1266G>T (p.Lys422Asn) c.1581G>T (p.Lys527Asn) c.1536G>T (p.Lys512Asn) c.1443G>T (p.Lys481Asn) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36222814C= | CA1846333320 | CLTA,GNE | c.1689G= (p.Lys563=) c.1419G= (p.Lys473=) c.1596G= (p.Lys532=) c.1411+559G= (n.1411+559G=) c.485+18635C= (n.485+18635C=) c.1266G= (p.Lys422=) c.1581G= (p.Lys527=) c.1536G= (p.Lys512=) c.1443G= (p.Lys481=) | |
9 | g.36222814C>G | CA373426155 | CLTA,GNE | c.1689G>C (p.Lys563Asn) c.1419G>C (p.Lys473Asn) c.1596G>C (p.Lys532Asn) c.1411+559G>C (n.1411+559G>C) c.485+18635C>G (n.485+18635C>G) c.1266G>C (p.Lys422Asn) c.1581G>C (p.Lys527Asn) c.1536G>C (p.Lys512Asn) c.1443G>C (p.Lys481Asn) | |
9 | g.36222814C>T | CA464495169 | CLTA,GNE | c.1689G>A (p.Lys563=) c.1419G>A (p.Lys473=) c.1596G>A (p.Lys532=) c.1411+559G>A (n.1411+559G>A) c.485+18635C>T (n.485+18635C>T) c.1266G>A (p.Lys422=) c.1581G>A (p.Lys527=) c.1536G>A (p.Lys512=) c.1443G>A (p.Lys481=) | |
9 | g.36222815T>A | CA373426158 | CLTA,GNE | c.1688A>T (p.Lys563Met) c.1418A>T (p.Lys473Met) c.1595A>T (p.Lys532Met) c.1411+558A>T (n.1411+558A>T) c.485+18636T>A (n.485+18636T>A) c.1265A>T (p.Lys422Met) c.1580A>T (p.Lys527Met) c.1535A>T (p.Lys512Met) c.1442A>T (p.Lys481Met) | |
9 | g.36222815T>C | CA373426157 | CLTA,GNE | c.1688A>G (p.Lys563Arg) c.1418A>G (p.Lys473Arg) c.1595A>G (p.Lys532Arg) c.1411+558A>G (n.1411+558A>G) c.485+18636T>C (n.485+18636T>C) c.1265A>G (p.Lys422Arg) c.1580A>G (p.Lys527Arg) c.1535A>G (p.Lys512Arg) c.1442A>G (p.Lys481Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222815T>G | CA373426156 | CLTA,GNE | c.1688A>C (p.Lys563Thr) c.1418A>C (p.Lys473Thr) c.1595A>C (p.Lys532Thr) c.1411+558A>C (n.1411+558A>C) c.485+18636T>G (n.485+18636T>G) c.1265A>C (p.Lys422Thr) c.1580A>C (p.Lys527Thr) c.1535A>C (p.Lys512Thr) c.1442A>C (p.Lys481Thr) | |
9 | g.36222815T= | CA1846333329 | CLTA,GNE | c.1688A= (p.Lys563=) c.1418A= (p.Lys473=) c.1595A= (p.Lys532=) c.1411+558A= (n.1411+558A=) c.485+18636T= (n.485+18636T=) c.1265A= (p.Lys422=) c.1580A= (p.Lys527=) c.1535A= (p.Lys512=) c.1442A= (p.Lys481=) | |
9 | g.36222817del | CA464495170 | CLTA,GNE | c.1688del (p.Lys563ArgfsTer25) c.1418del (p.Lys473ArgfsTer25) c.1595del (p.Lys532ArgfsTer25) c.1411+558del (n.1411+558del) c.485+18638del (n.485+18638del) c.1265del (p.Lys422ArgfsTer25) c.1580del (p.Lys527ArgfsTer25) c.1535del (p.Lys512ArgfsTer25) c.1442del (p.Lys481ArgfsTer25) | COSMIC COSMIC COSMIC |
9 | g.36222816T>A | CA373426160 | CLTA,GNE | c.1687A>T (p.Lys563Ter) c.1417A>T (p.Lys473Ter) c.1594A>T (p.Lys532Ter) c.1411+557A>T (n.1411+557A>T) c.485+18637T>A (n.485+18637T>A) c.1264A>T (p.Lys422Ter) c.1579A>T (p.Lys527Ter) c.1534A>T (p.Lys512Ter) c.1441A>T (p.Lys481Ter) | |
9 | g.36222816T>C | CA5056464 | CLTA,GNE | c.1687A>G (p.Lys563Glu) c.1417A>G (p.Lys473Glu) c.1594A>G (p.Lys532Glu) c.1411+557A>G (n.1411+557A>G) c.485+18637T>C (n.485+18637T>C) c.1264A>G (p.Lys422Glu) c.1579A>G (p.Lys527Glu) c.1534A>G (p.Lys512Glu) c.1441A>G (p.Lys481Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36222816T>G | CA373426162 | CLTA,GNE | c.1687A>C (p.Lys563Gln) c.1417A>C (p.Lys473Gln) c.1594A>C (p.Lys532Gln) c.1411+557A>C (n.1411+557A>C) c.485+18637T>G (n.485+18637T>G) c.1264A>C (p.Lys422Gln) c.1579A>C (p.Lys527Gln) c.1534A>C (p.Lys512Gln) c.1441A>C (p.Lys481Gln) | |
9 | g.36222816T= | CA1846333335 | CLTA,GNE | c.1687A= (p.Lys563=) c.1417A= (p.Lys473=) c.1594A= (p.Lys532=) c.1411+557A= (n.1411+557A=) c.485+18637T= (n.485+18637T=) c.1264A= (p.Lys422=) c.1579A= (p.Lys527=) c.1534A= (p.Lys512=) c.1441A= (p.Lys481=) | |
9 | g.36222817T>A | CA464495171 | CLTA,GNE | c.1686A>T (p.Gly562=) c.1416A>T (p.Gly472=) c.1593A>T (p.Gly531=) c.1411+556A>T (n.1411+556A>T) c.485+18638T>A (n.485+18638T>A) c.1263A>T (p.Gly421=) c.1578A>T (p.Gly526=) c.1533A>T (p.Gly511=) c.1440A>T (p.Gly480=) | |
9 | g.36222817T>C | CA464495173 | CLTA,GNE | c.1686A>G (p.Gly562=) c.1416A>G (p.Gly472=) c.1593A>G (p.Gly531=) c.1411+556A>G (n.1411+556A>G) c.485+18638T>C (n.485+18638T>C) c.1263A>G (p.Gly421=) c.1578A>G (p.Gly526=) c.1533A>G (p.Gly511=) c.1440A>G (p.Gly480=) | |
9 | g.36222817T>G | CA464495172 | CLTA,GNE | c.1686A>C (p.Gly562=) c.1416A>C (p.Gly472=) c.1593A>C (p.Gly531=) c.1411+556A>C (n.1411+556A>C) c.485+18638T>G (n.485+18638T>G) c.1263A>C (p.Gly421=) c.1578A>C (p.Gly526=) c.1533A>C (p.Gly511=) c.1440A>C (p.Gly480=) | |
9 | g.36222818C>A | CA373426165 | CLTA,GNE | c.1685G>T (p.Gly562Val) c.1415G>T (p.Gly472Val) c.1592G>T (p.Gly531Val) c.1411+555G>T (n.1411+555G>T) c.485+18639C>A (n.485+18639C>A) c.1262G>T (p.Gly421Val) c.1577G>T (p.Gly526Val) c.1532G>T (p.Gly511Val) c.1439G>T (p.Gly480Val) | |
9 | g.36222818C>G | CA373426167 | CLTA,GNE | c.1685G>C (p.Gly562Ala) c.1415G>C (p.Gly472Ala) c.1592G>C (p.Gly531Ala) c.1411+555G>C (n.1411+555G>C) c.485+18639C>G (n.485+18639C>G) c.1262G>C (p.Gly421Ala) c.1577G>C (p.Gly526Ala) c.1532G>C (p.Gly511Ala) c.1439G>C (p.Gly480Ala) | |
9 | g.36222818C>T | CA373426169 | CLTA,GNE | c.1685G>A (p.Gly562Glu) c.1415G>A (p.Gly472Glu) c.1592G>A (p.Gly531Glu) c.1411+555G>A (n.1411+555G>A) c.485+18639C>T (n.485+18639C>T) c.1262G>A (p.Gly421Glu) c.1577G>A (p.Gly526Glu) c.1532G>A (p.Gly511Glu) c.1439G>A (p.Gly480Glu) | |
9 | g.36222819C>A | CA373426171 | CLTA,GNE | c.1684G>T (p.Gly562Ter) c.1414G>T (p.Gly472Ter) c.1591G>T (p.Gly531Ter) c.1411+554G>T (n.1411+554G>T) c.485+18640C>A (n.485+18640C>A) c.1261G>T (p.Gly421Ter) c.1576G>T (p.Gly526Ter) c.1531G>T (p.Gly511Ter) c.1438G>T (p.Gly480Ter) | |
9 | g.36222819C>G | CA373426172 | CLTA,GNE | c.1684G>C (p.Gly562Arg) c.1414G>C (p.Gly472Arg) c.1591G>C (p.Gly531Arg) c.1411+554G>C (n.1411+554G>C) c.485+18640C>G (n.485+18640C>G) c.1261G>C (p.Gly421Arg) c.1576G>C (p.Gly526Arg) c.1531G>C (p.Gly511Arg) c.1438G>C (p.Gly480Arg) | |
9 | g.36222819C>T | CA373426174 | CLTA,GNE | c.1684G>A (p.Gly562Arg) c.1414G>A (p.Gly472Arg) c.1591G>A (p.Gly531Arg) c.1411+554G>A (n.1411+554G>A) c.485+18640C>T (n.485+18640C>T) c.1261G>A (p.Gly421Arg) c.1576G>A (p.Gly526Arg) c.1531G>A (p.Gly511Arg) c.1438G>A (p.Gly480Arg) | |
9 | g.36222820T>A | CA373426175 | CLTA,GNE | c.1683A>T (p.Gln561His) c.1413A>T (p.Gln471His) c.1590A>T (p.Gln530His) c.1411+553A>T (n.1411+553A>T) c.485+18641T>A (n.485+18641T>A) c.1260A>T (p.Gln420His) c.1575A>T (p.Gln525His) c.1530A>T (p.Gln510His) c.1437A>T (p.Gln479His) | |
9 | g.36222820T>C | CA464495174 | CLTA,GNE | c.1683A>G (p.Gln561=) c.1413A>G (p.Gln471=) c.1590A>G (p.Gln530=) c.1411+553A>G (n.1411+553A>G) c.485+18641T>C (n.485+18641T>C) c.1260A>G (p.Gln420=) c.1575A>G (p.Gln525=) c.1530A>G (p.Gln510=) c.1437A>G (p.Gln479=) | ClinVar dbSNP |
9 | g.36222820T>G | CA373426177 | CLTA,GNE | c.1683A>C (p.Gln561His) c.1413A>C (p.Gln471His) c.1590A>C (p.Gln530His) c.1411+553A>C (n.1411+553A>C) c.485+18641T>G (n.485+18641T>G) c.1260A>C (p.Gln420His) c.1575A>C (p.Gln525His) c.1530A>C (p.Gln510His) c.1437A>C (p.Gln479His) | |
9 | g.36222821T>A | CA373426178 | CLTA,GNE | c.1682A>T (p.Gln561Leu) c.1412A>T (p.Gln471Leu) c.1589A>T (p.Gln530Leu) c.1411+552A>T (n.1411+552A>T) c.485+18642T>A (n.485+18642T>A) c.1259A>T (p.Gln420Leu) c.1574A>T (p.Gln525Leu) c.1529A>T (p.Gln510Leu) c.1436A>T (p.Gln479Leu) | |
9 | g.36222821T>C | CA373426179 | CLTA,GNE | c.1682A>G (p.Gln561Arg) c.1412A>G (p.Gln471Arg) c.1589A>G (p.Gln530Arg) c.1411+552A>G (n.1411+552A>G) c.485+18642T>C (n.485+18642T>C) c.1259A>G (p.Gln420Arg) c.1574A>G (p.Gln525Arg) c.1529A>G (p.Gln510Arg) c.1436A>G (p.Gln479Arg) | |
9 | g.36222821T>G | CA373426181 | CLTA,GNE | c.1682A>C (p.Gln561Pro) c.1412A>C (p.Gln471Pro) c.1589A>C (p.Gln530Pro) c.1411+552A>C (n.1411+552A>C) c.485+18642T>G (n.485+18642T>G) c.1259A>C (p.Gln420Pro) c.1574A>C (p.Gln525Pro) c.1529A>C (p.Gln510Pro) c.1436A>C (p.Gln479Pro) | |
9 | g.36222822G>A | CA373426190 | CLTA,GNE | c.1681C>T (p.Gln561Ter) c.1411C>T (p.Gln471Ter) c.1588C>T (p.Gln530Ter) c.1411+551C>T (n.1411+551C>T) c.485+18643G>A (n.485+18643G>A) c.1258C>T (p.Gln420Ter) c.1573C>T (p.Gln525Ter) c.1528C>T (p.Gln510Ter) c.1435C>T (p.Gln479Ter) | |
9 | g.36222822G>C | CA373426193 | CLTA,GNE | c.1681C>G (p.Gln561Glu) c.1411C>G (p.Gln471Glu) c.1588C>G (p.Gln530Glu) c.1411+551C>G (n.1411+551C>G) c.485+18643G>C (n.485+18643G>C) c.1258C>G (p.Gln420Glu) c.1573C>G (p.Gln525Glu) c.1528C>G (p.Gln510Glu) c.1435C>G (p.Gln479Glu) | |
9 | g.36222822G>T | CA373426189 | CLTA,GNE | c.1681C>A (p.Gln561Lys) c.1411C>A (p.Gln471Lys) c.1588C>A (p.Gln530Lys) c.1411+551C>A (n.1411+551C>A) c.485+18643G>T (n.485+18643G>T) c.1258C>A (p.Gln420Lys) c.1573C>A (p.Gln525Lys) c.1528C>A (p.Gln510Lys) c.1435C>A (p.Gln479Lys) | |
9 | g.36222823G>A | CA464495175 | CLTA,GNE | c.1680C>T (p.Gly560=) c.1410C>T (p.Gly470=) c.1587C>T (p.Gly529=) c.1411+550C>T (n.1411+550C>T) c.485+18644G>A (n.485+18644G>A) c.1257C>T (p.Gly419=) c.1572C>T (p.Gly524=) c.1527C>T (p.Gly509=) c.1434C>T (p.Gly478=) | ClinVar gnomAD v4 |
9 | g.36222823G>C | CA464495176 | CLTA,GNE | c.1680C>G (p.Gly560=) c.1410C>G (p.Gly470=) c.1587C>G (p.Gly529=) c.1411+550C>G (n.1411+550C>G) c.485+18644G>C (n.485+18644G>C) c.1257C>G (p.Gly419=) c.1572C>G (p.Gly524=) c.1527C>G (p.Gly509=) c.1434C>G (p.Gly478=) | |
9 | g.36222823G>T | CA464495177 | CLTA,GNE | c.1680C>A (p.Gly560=) c.1410C>A (p.Gly470=) c.1587C>A (p.Gly529=) c.1411+550C>A (n.1411+550C>A) c.485+18644G>T (n.485+18644G>T) c.1257C>A (p.Gly419=) c.1572C>A (p.Gly524=) c.1527C>A (p.Gly509=) c.1434C>A (p.Gly478=) | COSMIC COSMIC COSMIC |
9 | g.36222824C>A | CA373426199 | CLTA,GNE | c.1679G>T (p.Gly560Val) c.1409G>T (p.Gly470Val) c.1586G>T (p.Gly529Val) c.1411+549G>T (n.1411+549G>T) c.485+18645C>A (n.485+18645C>A) c.1256G>T (p.Gly419Val) c.1571G>T (p.Gly524Val) c.1526G>T (p.Gly509Val) c.1433G>T (p.Gly478Val) | |
9 | g.36222824C>G | CA373426200 | CLTA,GNE | c.1679G>C (p.Gly560Ala) c.1409G>C (p.Gly470Ala) c.1586G>C (p.Gly529Ala) c.1411+549G>C (n.1411+549G>C) c.485+18645C>G (n.485+18645C>G) c.1256G>C (p.Gly419Ala) c.1571G>C (p.Gly524Ala) c.1526G>C (p.Gly509Ala) c.1433G>C (p.Gly478Ala) | |
9 | g.36222824C>T | CA373426202 | CLTA,GNE | c.1679G>A (p.Gly560Asp) c.1409G>A (p.Gly470Asp) c.1586G>A (p.Gly529Asp) c.1411+549G>A (n.1411+549G>A) c.485+18645C>T (n.485+18645C>T) c.1256G>A (p.Gly419Asp) c.1571G>A (p.Gly524Asp) c.1526G>A (p.Gly509Asp) c.1433G>A (p.Gly478Asp) | |
9 | g.36222825C>A | CA373426204 | CLTA,GNE | c.1678G>T (p.Gly560Cys) c.1408G>T (p.Gly470Cys) c.1585G>T (p.Gly529Cys) c.1411+548G>T (n.1411+548G>T) c.485+18646C>A (n.485+18646C>A) c.1255G>T (p.Gly419Cys) c.1570G>T (p.Gly524Cys) c.1525G>T (p.Gly509Cys) c.1432G>T (p.Gly478Cys) | |
9 | g.36222825C>G | CA373426205 | CLTA,GNE | c.1678G>C (p.Gly560Arg) c.1408G>C (p.Gly470Arg) c.1585G>C (p.Gly529Arg) c.1411+548G>C (n.1411+548G>C) c.485+18646C>G (n.485+18646C>G) c.1255G>C (p.Gly419Arg) c.1570G>C (p.Gly524Arg) c.1525G>C (p.Gly509Arg) c.1432G>C (p.Gly478Arg) | |
9 | g.36222825C>T | CA373426207 | CLTA,GNE | c.1678G>A (p.Gly560Ser) c.1408G>A (p.Gly470Ser) c.1585G>A (p.Gly529Ser) c.1411+548G>A (n.1411+548G>A) c.485+18646C>T (n.485+18646C>T) c.1255G>A (p.Gly419Ser) c.1570G>A (p.Gly524Ser) c.1525G>A (p.Gly509Ser) c.1432G>A (p.Gly478Ser) | |
9 | g.36222826A>C | CA373426208 | CLTA,GNE | c.1677T>G (p.Phe559Leu) c.1407T>G (p.Phe469Leu) c.1584T>G (p.Phe528Leu) c.1411+547T>G (n.1411+547T>G) c.485+18647A>C (n.485+18647A>C) c.1254T>G (p.Phe418Leu) c.1569T>G (p.Phe523Leu) c.1524T>G (p.Phe508Leu) c.1431T>G (p.Phe477Leu) | |
9 | g.36222826A>G | CA464495178 | CLTA,GNE | c.1677T>C (p.Phe559=) c.1407T>C (p.Phe469=) c.1584T>C (p.Phe528=) c.1411+547T>C (n.1411+547T>C) c.485+18647A>G (n.485+18647A>G) c.1254T>C (p.Phe418=) c.1569T>C (p.Phe523=) c.1524T>C (p.Phe508=) c.1431T>C (p.Phe477=) | |
9 | g.36222826A>T | CA373426209 | CLTA,GNE | c.1677T>A (p.Phe559Leu) c.1407T>A (p.Phe469Leu) c.1584T>A (p.Phe528Leu) c.1411+547T>A (n.1411+547T>A) c.485+18647A>T (n.485+18647A>T) c.1254T>A (p.Phe418Leu) c.1569T>A (p.Phe523Leu) c.1524T>A (p.Phe508Leu) c.1431T>A (p.Phe477Leu) | |
9 | g.36222827A= | CA1846333348 | CLTA,GNE | c.1676T= (p.Phe559=) c.1406T= (p.Phe469=) c.1583T= (p.Phe528=) c.1411+546T= (n.1411+546T=) c.485+18648A= (n.485+18648A=) c.1253T= (p.Phe418=) c.1568T= (p.Phe523=) c.1523T= (p.Phe508=) c.1430T= (p.Phe477=) | |
9 | g.36222827A>C | CA192843496 | CLTA,GNE | c.1676T>G (p.Phe559Cys) c.1406T>G (p.Phe469Cys) c.1583T>G (p.Phe528Cys) c.1411+546T>G (n.1411+546T>G) c.485+18648A>C (n.485+18648A>C) c.1253T>G (p.Phe418Cys) c.1568T>G (p.Phe523Cys) c.1523T>G (p.Phe508Cys) c.1430T>G (p.Phe477Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36222827A>G | CA373426214 | CLTA,GNE | c.1676T>C (p.Phe559Ser) c.1406T>C (p.Phe469Ser) c.1583T>C (p.Phe528Ser) c.1411+546T>C (n.1411+546T>C) c.485+18648A>G (n.485+18648A>G) c.1253T>C (p.Phe418Ser) c.1568T>C (p.Phe523Ser) c.1523T>C (p.Phe508Ser) c.1430T>C (p.Phe477Ser) | gnomAD v4 |
9 | g.36222827A>T | CA373426217 | CLTA,GNE | c.1676T>A (p.Phe559Tyr) c.1406T>A (p.Phe469Tyr) c.1583T>A (p.Phe528Tyr) c.1411+546T>A (n.1411+546T>A) c.485+18648A>T (n.485+18648A>T) c.1253T>A (p.Phe418Tyr) c.1568T>A (p.Phe523Tyr) c.1523T>A (p.Phe508Tyr) c.1430T>A (p.Phe477Tyr) | |
9 | g.36222828A>C | CA373426219 | CLTA,GNE | c.1675T>G (p.Phe559Val) c.1405T>G (p.Phe469Val) c.1582T>G (p.Phe528Val) c.1411+545T>G (n.1411+545T>G) c.485+18649A>C (n.485+18649A>C) c.1252T>G (p.Phe418Val) c.1567T>G (p.Phe523Val) c.1522T>G (p.Phe508Val) c.1429T>G (p.Phe477Val) | |
9 | g.36222828A>G | CA373426222 | CLTA,GNE | c.1675T>C (p.Phe559Leu) c.1405T>C (p.Phe469Leu) c.1582T>C (p.Phe528Leu) c.1411+545T>C (n.1411+545T>C) c.485+18649A>G (n.485+18649A>G) c.1252T>C (p.Phe418Leu) c.1567T>C (p.Phe523Leu) c.1522T>C (p.Phe508Leu) c.1429T>C (p.Phe477Leu) | |
9 | g.36222828A>T | CA373426224 | CLTA,GNE | c.1675T>A (p.Phe559Ile) c.1405T>A (p.Phe469Ile) c.1582T>A (p.Phe528Ile) c.1411+545T>A (n.1411+545T>A) c.485+18649A>T (n.485+18649A>T) c.1252T>A (p.Phe418Ile) c.1567T>A (p.Phe523Ile) c.1522T>A (p.Phe508Ile) c.1429T>A (p.Phe477Ile) | |
9 | g.36222829T>A | CA373426227 | CLTA,GNE | c.1674A>T (p.Lys558Asn) c.1404A>T (p.Lys468Asn) c.1581A>T (p.Lys527Asn) c.1411+544A>T (n.1411+544A>T) c.485+18650T>A (n.485+18650T>A) c.1251A>T (p.Lys417Asn) c.1566A>T (p.Lys522Asn) c.1521A>T (p.Lys507Asn) c.1428A>T (p.Lys476Asn) | |
9 | g.36222829T>C | CA464495179 | CLTA,GNE | c.1674A>G (p.Lys558=) c.1404A>G (p.Lys468=) c.1581A>G (p.Lys527=) c.1411+544A>G (n.1411+544A>G) c.485+18650T>C (n.485+18650T>C) c.1251A>G (p.Lys417=) c.1566A>G (p.Lys522=) c.1521A>G (p.Lys507=) c.1428A>G (p.Lys476=) | |
9 | g.36222829T>G | CA373426229 | CLTA,GNE | c.1674A>C (p.Lys558Asn) c.1404A>C (p.Lys468Asn) c.1581A>C (p.Lys527Asn) c.1411+544A>C (n.1411+544A>C) c.485+18650T>G (n.485+18650T>G) c.1251A>C (p.Lys417Asn) c.1566A>C (p.Lys522Asn) c.1521A>C (p.Lys507Asn) c.1428A>C (p.Lys476Asn) | |
9 | g.36222830T>A | CA373426231 | CLTA,GNE | c.1673A>T (p.Lys558Ile) c.1403A>T (p.Lys468Ile) c.1580A>T (p.Lys527Ile) c.1411+543A>T (n.1411+543A>T) c.485+18651T>A (n.485+18651T>A) c.1250A>T (p.Lys417Ile) c.1565A>T (p.Lys522Ile) c.1520A>T (p.Lys507Ile) c.1427A>T (p.Lys476Ile) | |
9 | g.36222830T>C | CA373426233 | CLTA,GNE | c.1673A>G (p.Lys558Arg) c.1403A>G (p.Lys468Arg) c.1580A>G (p.Lys527Arg) c.1411+543A>G (n.1411+543A>G) c.485+18651T>C (n.485+18651T>C) c.1250A>G (p.Lys417Arg) c.1565A>G (p.Lys522Arg) c.1520A>G (p.Lys507Arg) c.1427A>G (p.Lys476Arg) | |
9 | g.36222830T>G | CA373426235 | CLTA,GNE | c.1673A>C (p.Lys558Thr) c.1403A>C (p.Lys468Thr) c.1580A>C (p.Lys527Thr) c.1411+543A>C (n.1411+543A>C) c.485+18651T>G (n.485+18651T>G) c.1250A>C (p.Lys417Thr) c.1565A>C (p.Lys522Thr) c.1520A>C (p.Lys507Thr) c.1427A>C (p.Lys476Thr) | |
9 | g.36222831T>A | CA373426236 | CLTA,GNE | c.1672A>T (p.Lys558Ter) c.1402A>T (p.Lys468Ter) c.1579A>T (p.Lys527Ter) c.1411+542A>T (n.1411+542A>T) c.485+18652T>A (n.485+18652T>A) c.1249A>T (p.Lys417Ter) c.1564A>T (p.Lys522Ter) c.1519A>T (p.Lys507Ter) c.1426A>T (p.Lys476Ter) | |
9 | g.36222831T>C | CA373426238 | CLTA,GNE | c.1672A>G (p.Lys558Glu) c.1402A>G (p.Lys468Glu) c.1579A>G (p.Lys527Glu) c.1411+542A>G (n.1411+542A>G) c.485+18652T>C (n.485+18652T>C) c.1249A>G (p.Lys417Glu) c.1564A>G (p.Lys522Glu) c.1519A>G (p.Lys507Glu) c.1426A>G (p.Lys476Glu) | gnomAD v4 |
9 | g.36222831T>G | CA373426240 | CLTA,GNE | c.1672A>C (p.Lys558Gln) c.1402A>C (p.Lys468Gln) c.1579A>C (p.Lys527Gln) c.1411+542A>C (n.1411+542A>C) c.485+18652T>G (n.485+18652T>G) c.1249A>C (p.Lys417Gln) c.1564A>C (p.Lys522Gln) c.1519A>C (p.Lys507Gln) c.1426A>C (p.Lys476Gln) | |
9 | g.36222832C>A | CA373426241 | CLTA,GNE | c.1671G>T (p.Arg557Ser) c.1401G>T (p.Arg467Ser) c.1578G>T (p.Arg526Ser) c.1411+541G>T (n.1411+541G>T) c.485+18653C>A (n.485+18653C>A) c.1248G>T (p.Arg416Ser) c.1563G>T (p.Arg521Ser) c.1518G>T (p.Arg506Ser) c.1425G>T (p.Arg475Ser) | |
9 | g.36222832C>G | CA373426243 | CLTA,GNE | c.1671G>C (p.Arg557Ser) c.1401G>C (p.Arg467Ser) c.1578G>C (p.Arg526Ser) c.1411+541G>C (n.1411+541G>C) c.485+18653C>G (n.485+18653C>G) c.1248G>C (p.Arg416Ser) c.1563G>C (p.Arg521Ser) c.1518G>C (p.Arg506Ser) c.1425G>C (p.Arg475Ser) | |
9 | g.36222832C>T | CA464495180 | CLTA,GNE | c.1671G>A (p.Arg557=) c.1401G>A (p.Arg467=) c.1578G>A (p.Arg526=) c.1411+541G>A (n.1411+541G>A) c.485+18653C>T (n.485+18653C>T) c.1248G>A (p.Arg416=) c.1563G>A (p.Arg521=) c.1518G>A (p.Arg506=) c.1425G>A (p.Arg475=) | |
9 | g.36222833C>A | CA373426245 | CLTA,GNE | c.1670G>T (p.Arg557Met) c.1400G>T (p.Arg467Met) c.1577G>T (p.Arg526Met) c.1411+540G>T (n.1411+540G>T) c.485+18654C>A (n.485+18654C>A) c.1247G>T (p.Arg416Met) c.1562G>T (p.Arg521Met) c.1517G>T (p.Arg506Met) c.1424G>T (p.Arg475Met) | |
9 | g.36222833C>G | CA373426246 | CLTA,GNE | c.1670G>C (p.Arg557Thr) c.1400G>C (p.Arg467Thr) c.1577G>C (p.Arg526Thr) c.1411+540G>C (n.1411+540G>C) c.485+18654C>G (n.485+18654C>G) c.1247G>C (p.Arg416Thr) c.1562G>C (p.Arg521Thr) c.1517G>C (p.Arg506Thr) c.1424G>C (p.Arg475Thr) | |
9 | g.36222833C>T | CA373426248 | CLTA,GNE | c.1670G>A (p.Arg557Lys) c.1400G>A (p.Arg467Lys) c.1577G>A (p.Arg526Lys) c.1411+540G>A (n.1411+540G>A) c.485+18654C>T (n.485+18654C>T) c.1247G>A (p.Arg416Lys) c.1562G>A (p.Arg521Lys) c.1517G>A (p.Arg506Lys) c.1424G>A (p.Arg475Lys) | |
9 | g.36222834T>A | CA373426250 | CLTA,GNE | c.1669A>T (p.Arg557Trp) c.1399A>T (p.Arg467Trp) c.1576A>T (p.Arg526Trp) c.1411+539A>T (n.1411+539A>T) c.485+18655T>A (n.485+18655T>A) c.1246A>T (p.Arg416Trp) c.1561A>T (p.Arg521Trp) c.1516A>T (p.Arg506Trp) c.1423A>T (p.Arg475Trp) | |
9 | g.36222834T>C | CA373426253 | CLTA,GNE | c.1669A>G (p.Arg557Gly) c.1399A>G (p.Arg467Gly) c.1576A>G (p.Arg526Gly) c.1411+539A>G (n.1411+539A>G) c.485+18655T>C (n.485+18655T>C) c.1246A>G (p.Arg416Gly) c.1561A>G (p.Arg521Gly) c.1516A>G (p.Arg506Gly) c.1423A>G (p.Arg475Gly) | gnomAD v4 |
9 | g.36222834T>G | CA464495181 | CLTA,GNE | c.1669A>C (p.Arg557=) c.1399A>C (p.Arg467=) c.1576A>C (p.Arg526=) c.1411+539A>C (n.1411+539A>C) c.485+18655T>G (n.485+18655T>G) c.1246A>C (p.Arg416=) c.1561A>C (p.Arg521=) c.1516A>C (p.Arg506=) c.1423A>C (p.Arg475=) | |
9 | g.36222835T>A | CA373426256 | CLTA,GNE | c.1668A>T (p.Glu556Asp) c.1398A>T (p.Glu466Asp) c.1575A>T (p.Glu525Asp) c.1411+538A>T (n.1411+538A>T) c.485+18656T>A (n.485+18656T>A) c.1245A>T (p.Glu415Asp) c.1560A>T (p.Glu520Asp) c.1515A>T (p.Glu505Asp) c.1422A>T (p.Glu474Asp) | |
9 | g.36222835T>C | CA464495182 | CLTA,GNE | c.1668A>G (p.Glu556=) c.1398A>G (p.Glu466=) c.1575A>G (p.Glu525=) c.1411+538A>G (n.1411+538A>G) c.485+18656T>C (n.485+18656T>C) c.1245A>G (p.Glu415=) c.1560A>G (p.Glu520=) c.1515A>G (p.Glu505=) c.1422A>G (p.Glu474=) | |
9 | g.36222835T>G | CA373426254 | CLTA,GNE | c.1668A>C (p.Glu556Asp) c.1398A>C (p.Glu466Asp) c.1575A>C (p.Glu525Asp) c.1411+538A>C (n.1411+538A>C) c.485+18656T>G (n.485+18656T>G) c.1245A>C (p.Glu415Asp) c.1560A>C (p.Glu520Asp) c.1515A>C (p.Glu505Asp) c.1422A>C (p.Glu474Asp) | |
9 | g.36222836T>A | CA373426258 | CLTA,GNE | c.1667A>T (p.Glu556Val) c.1397A>T (p.Glu466Val) c.1574A>T (p.Glu525Val) c.1411+537A>T (n.1411+537A>T) c.485+18657T>A (n.485+18657T>A) c.1244A>T (p.Glu415Val) c.1559A>T (p.Glu520Val) c.1514A>T (p.Glu505Val) c.1421A>T (p.Glu474Val) | |
9 | g.36222836T>C | CA373426261 | CLTA,GNE | c.1667A>G (p.Glu556Gly) c.1397A>G (p.Glu466Gly) c.1574A>G (p.Glu525Gly) c.1411+537A>G (n.1411+537A>G) c.485+18657T>C (n.485+18657T>C) c.1244A>G (p.Glu415Gly) c.1559A>G (p.Glu520Gly) c.1514A>G (p.Glu505Gly) c.1421A>G (p.Glu474Gly) | |
9 | g.36222836T>G | CA373426260 | CLTA,GNE | c.1667A>C (p.Glu556Ala) c.1397A>C (p.Glu466Ala) c.1574A>C (p.Glu525Ala) c.1411+537A>C (n.1411+537A>C) c.485+18657T>G (n.485+18657T>G) c.1244A>C (p.Glu415Ala) c.1559A>C (p.Glu520Ala) c.1514A>C (p.Glu505Ala) c.1421A>C (p.Glu474Ala) | |
9 | g.36222837C>A | CA373426263 | CLTA,GNE | c.1666G>T (p.Glu556Ter) c.1396G>T (p.Glu466Ter) c.1573G>T (p.Glu525Ter) c.1411+536G>T (n.1411+536G>T) c.485+18658C>A (n.485+18658C>A) c.1243G>T (p.Glu415Ter) c.1558G>T (p.Glu520Ter) c.1513G>T (p.Glu505Ter) c.1420G>T (p.Glu474Ter) | |
9 | g.36222837C>G | CA373426266 | CLTA,GNE | c.1666G>C (p.Glu556Gln) c.1396G>C (p.Glu466Gln) c.1573G>C (p.Glu525Gln) c.1411+536G>C (n.1411+536G>C) c.485+18658C>G (n.485+18658C>G) c.1243G>C (p.Glu415Gln) c.1558G>C (p.Glu520Gln) c.1513G>C (p.Glu505Gln) c.1420G>C (p.Glu474Gln) | |
9 | g.36222837C>T | CA373426264 | CLTA,GNE | c.1666G>A (p.Glu556Lys) c.1396G>A (p.Glu466Lys) c.1573G>A (p.Glu525Lys) c.1411+536G>A (n.1411+536G>A) c.485+18658C>T (n.485+18658C>T) c.1243G>A (p.Glu415Lys) c.1558G>A (p.Glu520Lys) c.1513G>A (p.Glu505Lys) c.1420G>A (p.Glu474Lys) | |
9 | g.36222838C>A | CA192843501 | CLTA,GNE | c.1665G>T (p.Ala555=) c.1395G>T (p.Ala465=) c.1572G>T (p.Ala524=) c.1411+535G>T (n.1411+535G>T) c.485+18659C>A (n.485+18659C>A) c.1242G>T (p.Ala414=) c.1557G>T (p.Ala519=) c.1512G>T (p.Ala504=) c.1419G>T (p.Ala473=) | dbSNP |
9 | g.36222838C= | CA1846333357 | CLTA,GNE | c.1665G= (p.Ala555=) c.1395G= (p.Ala465=) c.1572G= (p.Ala524=) c.1411+535G= (n.1411+535G=) c.485+18659C= (n.485+18659C=) c.1242G= (p.Ala414=) c.1557G= (p.Ala519=) c.1512G= (p.Ala504=) c.1419G= (p.Ala473=) | |
9 | g.36222838C>G | CA464495183 | CLTA,GNE | c.1665G>C (p.Ala555=) c.1395G>C (p.Ala465=) c.1572G>C (p.Ala524=) c.1411+535G>C (n.1411+535G>C) c.485+18659C>G (n.485+18659C>G) c.1242G>C (p.Ala414=) c.1557G>C (p.Ala519=) c.1512G>C (p.Ala504=) c.1419G>C (p.Ala473=) | ClinVar |
9 | g.36222838C>T | CA5056465 | CLTA,GNE | c.1665G>A (p.Ala555=) c.1395G>A (p.Ala465=) c.1572G>A (p.Ala524=) c.1411+535G>A (n.1411+535G>A) c.485+18659C>T (n.485+18659C>T) c.1242G>A (p.Ala414=) c.1557G>A (p.Ala519=) c.1512G>A (p.Ala504=) c.1419G>A (p.Ala473=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222839G>A | CA5056466 | CLTA,GNE | c.1664C>T (p.Ala555Val) c.1394C>T (p.Ala465Val) c.1571C>T (p.Ala524Val) c.1411+534C>T (n.1411+534C>T) c.485+18660G>A (n.485+18660G>A) c.1241C>T (p.Ala414Val) c.1556C>T (p.Ala519Val) c.1511C>T (p.Ala504Val) c.1418C>T (p.Ala473Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222839G>C | CA373426272 | CLTA,GNE | c.1664C>G (p.Ala555Gly) c.1394C>G (p.Ala465Gly) c.1571C>G (p.Ala524Gly) c.1411+534C>G (n.1411+534C>G) c.485+18660G>C (n.485+18660G>C) c.1241C>G (p.Ala414Gly) c.1556C>G (p.Ala519Gly) c.1511C>G (p.Ala504Gly) c.1418C>G (p.Ala473Gly) | |
9 | g.36222839G= | CA1846333365 | CLTA,GNE | c.1664C= (p.Ala555=) c.1394C= (p.Ala465=) c.1571C= (p.Ala524=) c.1411+534C= (n.1411+534C=) c.485+18660G= (n.485+18660G=) c.1241C= (p.Ala414=) c.1556C= (p.Ala519=) c.1511C= (p.Ala504=) c.1418C= (p.Ala473=) | |
9 | g.36222839G>T | CA5056467 | CLTA,GNE | c.1664C>A (p.Ala555Glu) c.1394C>A (p.Ala465Glu) c.1571C>A (p.Ala524Glu) c.1411+534C>A (n.1411+534C>A) c.485+18660G>T (n.485+18660G>T) c.1241C>A (p.Ala414Glu) c.1556C>A (p.Ala519Glu) c.1511C>A (p.Ala504Glu) c.1418C>A (p.Ala473Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222840C>A | CA373426277 | CLTA,GNE | c.1663G>T (p.Ala555Ser) c.1393G>T (p.Ala465Ser) c.1570G>T (p.Ala524Ser) c.1411+533G>T (n.1411+533G>T) c.485+18661C>A (n.485+18661C>A) c.1240G>T (p.Ala414Ser) c.1555G>T (p.Ala519Ser) c.1510G>T (p.Ala504Ser) c.1417G>T (p.Ala473Ser) | |
9 | g.36222840C>G | CA373426283 | CLTA,GNE | c.1663G>C (p.Ala555Pro) c.1393G>C (p.Ala465Pro) c.1570G>C (p.Ala524Pro) c.1411+533G>C (n.1411+533G>C) c.485+18661C>G (n.485+18661C>G) c.1240G>C (p.Ala414Pro) c.1555G>C (p.Ala519Pro) c.1510G>C (p.Ala504Pro) c.1417G>C (p.Ala473Pro) | dbSNP |
9 | g.36222840C>T | CA373426285 | CLTA,GNE | c.1663G>A (p.Ala555Thr) c.1393G>A (p.Ala465Thr) c.1570G>A (p.Ala524Thr) c.1411+533G>A (n.1411+533G>A) c.485+18661C>T (n.485+18661C>T) c.1240G>A (p.Ala414Thr) c.1555G>A (p.Ala519Thr) c.1510G>A (p.Ala504Thr) c.1417G>A (p.Ala473Thr) | gnomAD v4 |
9 | g.36222841C>A | CA464495184 | CLTA,GNE | c.1662G>T (p.Leu554=) c.1392G>T (p.Leu464=) c.1569G>T (p.Leu523=) c.1411+532G>T (n.1411+532G>T) c.485+18662C>A (n.485+18662C>A) c.1239G>T (p.Leu413=) c.1554G>T (p.Leu518=) c.1509G>T (p.Leu503=) c.1416G>T (p.Leu472=) | |
9 | g.36222841C>G | CA464495185 | CLTA,GNE | c.1662G>C (p.Leu554=) c.1392G>C (p.Leu464=) c.1569G>C (p.Leu523=) c.1411+532G>C (n.1411+532G>C) c.485+18662C>G (n.485+18662C>G) c.1239G>C (p.Leu413=) c.1554G>C (p.Leu518=) c.1509G>C (p.Leu503=) c.1416G>C (p.Leu472=) | ClinVar |
9 | g.36222841C>T | CA464495186 | CLTA,GNE | c.1662G>A (p.Leu554=) c.1392G>A (p.Leu464=) c.1569G>A (p.Leu523=) c.1411+532G>A (n.1411+532G>A) c.485+18662C>T (n.485+18662C>T) c.1239G>A (p.Leu413=) c.1554G>A (p.Leu518=) c.1509G>A (p.Leu503=) c.1416G>A (p.Leu472=) | |
9 | g.36222842A>C | CA373426288 | CLTA,GNE | c.1661T>G (p.Leu554Arg) c.1391T>G (p.Leu464Arg) c.1568T>G (p.Leu523Arg) c.1411+531T>G (n.1411+531T>G) c.485+18663A>C (n.485+18663A>C) c.1238T>G (p.Leu413Arg) c.1553T>G (p.Leu518Arg) c.1508T>G (p.Leu503Arg) c.1415T>G (p.Leu472Arg) | |
9 | g.36222842A>G | CA373426290 | CLTA,GNE | c.1661T>C (p.Leu554Pro) c.1391T>C (p.Leu464Pro) c.1568T>C (p.Leu523Pro) c.1411+531T>C (n.1411+531T>C) c.485+18663A>G (n.485+18663A>G) c.1238T>C (p.Leu413Pro) c.1553T>C (p.Leu518Pro) c.1508T>C (p.Leu503Pro) c.1415T>C (p.Leu472Pro) | |
9 | g.36222842A>T | CA373426292 | CLTA,GNE | c.1661T>A (p.Leu554Gln) c.1391T>A (p.Leu464Gln) c.1568T>A (p.Leu523Gln) c.1411+531T>A (n.1411+531T>A) c.485+18663A>T (n.485+18663A>T) c.1238T>A (p.Leu413Gln) c.1553T>A (p.Leu518Gln) c.1508T>A (p.Leu503Gln) c.1415T>A (p.Leu472Gln) | |
9 | g.36222843G>A | CA464495187 | CLTA,GNE | c.1660C>T (p.Leu554=) c.1390C>T (p.Leu464=) c.1567C>T (p.Leu523=) c.1411+530C>T (n.1411+530C>T) c.485+18664G>A (n.485+18664G>A) c.1237C>T (p.Leu413=) c.1552C>T (p.Leu518=) c.1507C>T (p.Leu503=) c.1414C>T (p.Leu472=) | gnomAD v4 |
9 | g.36222843G>C | CA373426293 | CLTA,GNE | c.1660C>G (p.Leu554Val) c.1390C>G (p.Leu464Val) c.1567C>G (p.Leu523Val) c.1411+530C>G (n.1411+530C>G) c.485+18664G>C (n.485+18664G>C) c.1237C>G (p.Leu413Val) c.1552C>G (p.Leu518Val) c.1507C>G (p.Leu503Val) c.1414C>G (p.Leu472Val) | ClinVar dbSNP |
9 | g.36222843G= | CA1846333377 | CLTA,GNE | c.1660C= (p.Leu554=) c.1390C= (p.Leu464=) c.1567C= (p.Leu523=) c.1411+530C= (n.1411+530C=) c.485+18664G= (n.485+18664G=) c.1237C= (p.Leu413=) c.1552C= (p.Leu518=) c.1507C= (p.Leu503=) c.1414C= (p.Leu472=) | |
9 | g.36222843G>T | CA373426294 | CLTA,GNE | c.1660C>A (p.Leu554Met) c.1390C>A (p.Leu464Met) c.1567C>A (p.Leu523Met) c.1411+530C>A (n.1411+530C>A) c.485+18664G>T (n.485+18664G>T) c.1237C>A (p.Leu413Met) c.1552C>A (p.Leu518Met) c.1507C>A (p.Leu503Met) c.1414C>A (p.Leu472Met) | ClinVar dbSNP |
9 | g.36222844G>A | CA464495188 | CLTA,GNE | c.1659C>T (p.Ala553=) c.1389C>T (p.Ala463=) c.1566C>T (p.Ala522=) c.1411+529C>T (n.1411+529C>T) c.485+18665G>A (n.485+18665G>A) c.1236C>T (p.Ala412=) c.1551C>T (p.Ala517=) c.1506C>T (p.Ala502=) c.1413C>T (p.Ala471=) | |
9 | g.36222844G>C | CA464495189 | CLTA,GNE | c.1659C>G (p.Ala553=) c.1389C>G (p.Ala463=) c.1566C>G (p.Ala522=) c.1411+529C>G (n.1411+529C>G) c.485+18665G>C (n.485+18665G>C) c.1236C>G (p.Ala412=) c.1551C>G (p.Ala517=) c.1506C>G (p.Ala502=) c.1413C>G (p.Ala471=) | |
9 | g.36222844G>T | CA464495190 | CLTA,GNE | c.1659C>A (p.Ala553=) c.1389C>A (p.Ala463=) c.1566C>A (p.Ala522=) c.1411+529C>A (n.1411+529C>A) c.485+18665G>T (n.485+18665G>T) c.1236C>A (p.Ala412=) c.1551C>A (p.Ala517=) c.1506C>A (p.Ala502=) c.1413C>A (p.Ala471=) | |
9 | g.36222845G>A | CA373426296 | CLTA,GNE | c.1658C>T (p.Ala553Val) c.1388C>T (p.Ala463Val) c.1565C>T (p.Ala522Val) c.1411+528C>T (n.1411+528C>T) c.485+18666G>A (n.485+18666G>A) c.1235C>T (p.Ala412Val) c.1550C>T (p.Ala517Val) c.1505C>T (p.Ala502Val) c.1412C>T (p.Ala471Val) | ClinVar dbSNP |
9 | g.36222845G>C | CA373426300 | CLTA,GNE | c.1658C>G (p.Ala553Gly) c.1388C>G (p.Ala463Gly) c.1565C>G (p.Ala522Gly) c.1411+528C>G (n.1411+528C>G) c.485+18666G>C (n.485+18666G>C) c.1235C>G (p.Ala412Gly) c.1550C>G (p.Ala517Gly) c.1505C>G (p.Ala502Gly) c.1412C>G (p.Ala471Gly) | |
9 | g.36222845G= | CA1846333385 | CLTA,GNE | c.1658C= (p.Ala553=) c.1388C= (p.Ala463=) c.1565C= (p.Ala522=) c.1411+528C= (n.1411+528C=) c.485+18666G= (n.485+18666G=) c.1235C= (p.Ala412=) c.1550C= (p.Ala517=) c.1505C= (p.Ala502=) c.1412C= (p.Ala471=) | |
9 | g.36222845G>T | CA373426298 | CLTA,GNE | c.1658C>A (p.Ala553Asp) c.1388C>A (p.Ala463Asp) c.1565C>A (p.Ala522Asp) c.1411+528C>A (n.1411+528C>A) c.485+18666G>T (n.485+18666G>T) c.1235C>A (p.Ala412Asp) c.1550C>A (p.Ala517Asp) c.1505C>A (p.Ala502Asp) c.1412C>A (p.Ala471Asp) | |
9 | g.36222846C>A | CA373426301 | CLTA,GNE | c.1657G>T (p.Ala553Ser) c.1387G>T (p.Ala463Ser) c.1564G>T (p.Ala522Ser) c.1411+527G>T (n.1411+527G>T) c.485+18667C>A (n.485+18667C>A) c.1234G>T (p.Ala412Ser) c.1549G>T (p.Ala517Ser) c.1504G>T (p.Ala502Ser) c.1411G>T (p.Ala471Ser) | ClinVar dbSNP |
9 | g.36222846C>G | CA373426303 | CLTA,GNE | c.1657G>C (p.Ala553Pro) c.1387G>C (p.Ala463Pro) c.1564G>C (p.Ala522Pro) c.1411+527G>C (n.1411+527G>C) c.485+18667C>G (n.485+18667C>G) c.1234G>C (p.Ala412Pro) c.1549G>C (p.Ala517Pro) c.1504G>C (p.Ala502Pro) c.1411G>C (p.Ala471Pro) | |
9 | g.36222846C>T | CA373426305 | CLTA,GNE | c.1657G>A (p.Ala553Thr) c.1387G>A (p.Ala463Thr) c.1564G>A (p.Ala522Thr) c.1411+527G>A (n.1411+527G>A) c.485+18667C>T (n.485+18667C>T) c.1234G>A (p.Ala412Thr) c.1549G>A (p.Ala517Thr) c.1504G>A (p.Ala502Thr) c.1411G>A (p.Ala471Thr) | |
9 | g.36222847A>C | CA464495191 | CLTA,GNE | c.1656T>G (p.Ala552=) c.1386T>G (p.Ala462=) c.1563T>G (p.Ala521=) c.1411+526T>G (n.1411+526T>G) c.485+18668A>C (n.485+18668A>C) c.1233T>G (p.Ala411=) c.1548T>G (p.Ala516=) c.1503T>G (p.Ala501=) c.1410T>G (p.Ala470=) | |
9 | g.36222847A>G | CA464495192 | CLTA,GNE | c.1656T>C (p.Ala552=) c.1386T>C (p.Ala462=) c.1563T>C (p.Ala521=) c.1411+526T>C (n.1411+526T>C) c.485+18668A>G (n.485+18668A>G) c.1233T>C (p.Ala411=) c.1548T>C (p.Ala516=) c.1503T>C (p.Ala501=) c.1410T>C (p.Ala470=) | ClinVar dbSNP |
9 | g.36222847A>T | CA464495193 | CLTA,GNE | c.1656T>A (p.Ala552=) c.1386T>A (p.Ala462=) c.1563T>A (p.Ala521=) c.1411+526T>A (n.1411+526T>A) c.485+18668A>T (n.485+18668A>T) c.1233T>A (p.Ala411=) c.1548T>A (p.Ala516=) c.1503T>A (p.Ala501=) c.1410T>A (p.Ala470=) | |
9 | g.36222848G>A | CA373426307 | CLTA,GNE | c.1655C>T (p.Ala552Val) c.1385C>T (p.Ala462Val) c.1562C>T (p.Ala521Val) c.1411+525C>T (n.1411+525C>T) c.485+18669G>A (n.485+18669G>A) c.1232C>T (p.Ala411Val) c.1547C>T (p.Ala516Val) c.1502C>T (p.Ala501Val) c.1409C>T (p.Ala470Val) | |
9 | g.36222848G>C | CA373426308 | CLTA,GNE | c.1655C>G (p.Ala552Gly) c.1385C>G (p.Ala462Gly) c.1562C>G (p.Ala521Gly) c.1411+525C>G (n.1411+525C>G) c.485+18669G>C (n.485+18669G>C) c.1232C>G (p.Ala411Gly) c.1547C>G (p.Ala516Gly) c.1502C>G (p.Ala501Gly) c.1409C>G (p.Ala470Gly) | |
9 | g.36222848G>T | CA373426310 | CLTA,GNE | c.1655C>A (p.Ala552Asp) c.1385C>A (p.Ala462Asp) c.1562C>A (p.Ala521Asp) c.1411+525C>A (n.1411+525C>A) c.485+18669G>T (n.485+18669G>T) c.1232C>A (p.Ala411Asp) c.1547C>A (p.Ala516Asp) c.1502C>A (p.Ala501Asp) c.1409C>A (p.Ala470Asp) | gnomAD v4 |
9 | g.36222849C>A | CA373426311 | CLTA,GNE | c.1654G>T (p.Ala552Ser) c.1384G>T (p.Ala462Ser) c.1561G>T (p.Ala521Ser) c.1411+524G>T (n.1411+524G>T) c.485+18670C>A (n.485+18670C>A) c.1231G>T (p.Ala411Ser) c.1546G>T (p.Ala516Ser) c.1501G>T (p.Ala501Ser) c.1408G>T (p.Ala470Ser) | |
9 | g.36222849C>G | CA373426312 | CLTA,GNE | c.1654G>C (p.Ala552Pro) c.1384G>C (p.Ala462Pro) c.1561G>C (p.Ala521Pro) c.1411+524G>C (n.1411+524G>C) c.485+18670C>G (n.485+18670C>G) c.1231G>C (p.Ala411Pro) c.1546G>C (p.Ala516Pro) c.1501G>C (p.Ala501Pro) c.1408G>C (p.Ala470Pro) | |
9 | g.36222849C>T | CA373426314 | CLTA,GNE | c.1654G>A (p.Ala552Thr) c.1384G>A (p.Ala462Thr) c.1561G>A (p.Ala521Thr) c.1411+524G>A (n.1411+524G>A) c.485+18670C>T (n.485+18670C>T) c.1231G>A (p.Ala411Thr) c.1546G>A (p.Ala516Thr) c.1501G>A (p.Ala501Thr) c.1408G>A (p.Ala470Thr) | gnomAD v4 |
9 | g.36222850A>C | CA373426315 | CLTA,GNE | c.1653T>G (p.Cys551Trp) c.1383T>G (p.Cys461Trp) c.1560T>G (p.Cys520Trp) c.1411+523T>G (n.1411+523T>G) c.485+18671A>C (n.485+18671A>C) c.1230T>G (p.Cys410Trp) c.1545T>G (p.Cys515Trp) c.1500T>G (p.Cys500Trp) c.1407T>G (p.Cys469Trp) | |
9 | g.36222850A>G | CA464495194 | CLTA,GNE | c.1653T>C (p.Cys551=) c.1383T>C (p.Cys461=) c.1560T>C (p.Cys520=) c.1411+523T>C (n.1411+523T>C) c.485+18671A>G (n.485+18671A>G) c.1230T>C (p.Cys410=) c.1545T>C (p.Cys515=) c.1500T>C (p.Cys500=) c.1407T>C (p.Cys469=) | |
9 | g.36222850A>T | CA373426316 | CLTA,GNE | c.1653T>A (p.Cys551Ter) c.1383T>A (p.Cys461Ter) c.1560T>A (p.Cys520Ter) c.1411+523T>A (n.1411+523T>A) c.485+18671A>T (n.485+18671A>T) c.1230T>A (p.Cys410Ter) c.1545T>A (p.Cys515Ter) c.1500T>A (p.Cys500Ter) c.1407T>A (p.Cys469Ter) | |
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) |