Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.77942656G>ACA918993NEXNc.1855G>A (p.Gly619Arg)
c.1663G>A (p.Gly555Arg)
c.1554G>A
n.694G>A
n.1429G>A
c.1813G>A (p.Gly605Arg)
c.1633G>A (p.Gly545Arg)
c.1621G>A (p.Gly541Arg)
c.1438G>A (p.Gly480Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77942656G>CCA340883015NEXNc.1855G>C (p.Gly619Arg)
c.1663G>C (p.Gly555Arg)
c.1554G>C
n.694G>C
n.1429G>C
c.1813G>C (p.Gly605Arg)
c.1633G>C (p.Gly545Arg)
c.1621G>C (p.Gly541Arg)
c.1438G>C (p.Gly480Arg)
1g.77942656G=CA1177631422NEXNc.1855G= (p.Gly619=)
c.1663G= (p.Gly555=)
c.1554G=
n.694G=
n.1429G=
c.1813G= (p.Gly605=)
c.1633G= (p.Gly545=)
c.1621G= (p.Gly541=)
c.1438G= (p.Gly480=)
1g.77942656G>TCA340883020NEXNc.1855G>T (p.Gly619Ter)
c.1663G>T (p.Gly555Ter)
c.1554G>T
n.694G>T
n.1429G>T
c.1813G>T (p.Gly605Ter)
c.1633G>T (p.Gly545Ter)
c.1621G>T (p.Gly541Ter)
c.1438G>T (p.Gly480Ter)
1g.77942657G>ACA340883022NEXNc.1856G>A (p.Gly619Glu)
c.1664G>A (p.Gly555Glu)
c.1555G>A
n.695G>A
n.1430G>A
c.1814G>A (p.Gly605Glu)
c.1634G>A (p.Gly545Glu)
c.1622G>A (p.Gly541Glu)
c.1439G>A (p.Gly480Glu)
dbSNP gnomAD v2 gnomAD v4
1g.77942657G>CCA340883023NEXNc.1856G>C (p.Gly619Ala)
c.1664G>C (p.Gly555Ala)
c.1555G>C
n.695G>C
n.1430G>C
c.1814G>C (p.Gly605Ala)
c.1634G>C (p.Gly545Ala)
c.1622G>C (p.Gly541Ala)
c.1439G>C (p.Gly480Ala)
1g.77942657G=CA1177631423NEXNc.1856G= (p.Gly619=)
c.1664G= (p.Gly555=)
c.1555G=
n.695G=
n.1430G=
c.1814G= (p.Gly605=)
c.1634G= (p.Gly545=)
c.1622G= (p.Gly541=)
c.1439G= (p.Gly480=)
1g.77942657G>TCA340883024NEXNc.1856G>T (p.Gly619Val)
c.1664G>T (p.Gly555Val)
c.1555G>T
n.695G>T
n.1430G>T
c.1814G>T (p.Gly605Val)
c.1634G>T (p.Gly545Val)
c.1622G>T (p.Gly541Val)
c.1439G>T (p.Gly480Val)
1g.77942658A>CCA418709651NEXNc.1857A>C (p.Gly619=)
c.1665A>C (p.Gly555=)
c.1556A>C
n.696A>C
n.1431A>C
c.1815A>C (p.Gly605=)
c.1635A>C (p.Gly545=)
c.1623A>C (p.Gly541=)
c.1440A>C (p.Gly480=)
gnomAD v4
1g.77942658A>GCA418709647NEXNc.1857A>G (p.Gly619=)
c.1665A>G (p.Gly555=)
c.1556A>G
n.696A>G
n.1431A>G
c.1815A>G (p.Gly605=)
c.1635A>G (p.Gly545=)
c.1623A>G (p.Gly541=)
c.1440A>G (p.Gly480=)
1g.77942658A>TCA418709653NEXNc.1857A>T (p.Gly619=)
c.1665A>T (p.Gly555=)
c.1556A>T
n.696A>T
n.1431A>T
c.1815A>T (p.Gly605=)
c.1635A>T (p.Gly545=)
c.1623A>T (p.Gly541=)
c.1440A>T (p.Gly480=)
1g.77942659G>ACA340883026NEXNc.1858G>A (p.Glu620Lys)
c.1666G>A (p.Glu556Lys)
c.1557G>A
n.697G>A
n.1432G>A
c.1816G>A (p.Glu606Lys)
c.1636G>A (p.Glu546Lys)
c.1624G>A (p.Glu542Lys)
c.1441G>A (p.Glu481Lys)
1g.77942659G>CCA340883028NEXNc.1858G>C (p.Glu620Gln)
c.1666G>C (p.Glu556Gln)
c.1557G>C
n.697G>C
n.1432G>C
c.1816G>C (p.Glu606Gln)
c.1636G>C (p.Glu546Gln)
c.1624G>C (p.Glu542Gln)
c.1441G>C (p.Glu481Gln)
gnomAD v4
1g.77942659G>TCA340883029NEXNc.1858G>T (p.Glu620Ter)
c.1666G>T (p.Glu556Ter)
c.1557G>T
n.697G>T
n.1432G>T
c.1816G>T (p.Glu606Ter)
c.1636G>T (p.Glu546Ter)
c.1624G>T (p.Glu542Ter)
c.1441G>T (p.Glu481Ter)
1g.77942660A=CA1148880791NEXNc.1859A= (p.Glu620=)
c.1667A= (p.Glu556=)
c.1558A=
n.698A=
n.1433A=
c.1817A= (p.Glu606=)
c.1637A= (p.Glu546=)
c.1625A= (p.Glu542=)
c.1442A= (p.Glu481=)
1g.77942660A>CCA340883031NEXNc.1859A>C (p.Glu620Ala)
c.1667A>C (p.Glu556Ala)
c.1558A>C
n.698A>C
n.1433A>C
c.1817A>C (p.Glu606Ala)
c.1637A>C (p.Glu546Ala)
c.1625A>C (p.Glu542Ala)
c.1442A>C (p.Glu481Ala)
1g.77942660A>GCA918994NEXNc.1859A>G (p.Glu620Gly)
c.1667A>G (p.Glu556Gly)
c.1558A>G
n.698A>G
n.1433A>G
c.1817A>G (p.Glu606Gly)
c.1637A>G (p.Glu546Gly)
c.1625A>G (p.Glu542Gly)
c.1442A>G (p.Glu481Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942660A>TCA340883033NEXNc.1859A>T (p.Glu620Val)
c.1667A>T (p.Glu556Val)
c.1558A>T
n.698A>T
n.1433A>T
c.1817A>T (p.Glu606Val)
c.1637A>T (p.Glu546Val)
c.1625A>T (p.Glu542Val)
c.1442A>T (p.Glu481Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77942660_77942661insTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGCA2646275672NEXNc.1859_1860insTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG (p.Glu620AspfsTer6)
c.1667_1668insTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG (p.Glu556AspfsTer6)
c.1558_1559insTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG
n.698_699insTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG
n.1433_1434insTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG
c.1817_1818insTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG (p.Glu606AspfsTer6)
c.1637_1638insTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG (p.Glu546AspfsTer6)
c.1625_1626insTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG (p.Glu542AspfsTer6)
c.1442_1443insTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG (p.Glu481AspfsTer6)
gnomAD v4
1g.77942661A=CA1177631424NEXNc.1860A= (p.Glu620=)
c.1668A= (p.Glu556=)
c.1559A=
n.699A=
n.1434A=
c.1818A= (p.Glu606=)
c.1638A= (p.Glu546=)
c.1626A= (p.Glu542=)
c.1443A= (p.Glu481=)
1g.77942661A>CCA340883035NEXNc.1860A>C (p.Glu620Asp)
c.1668A>C (p.Glu556Asp)
c.1559A>C
n.699A>C
n.1434A>C
c.1818A>C (p.Glu606Asp)
c.1638A>C (p.Glu546Asp)
c.1626A>C (p.Glu542Asp)
c.1443A>C (p.Glu481Asp)
1g.77942661A>GCA918995NEXNc.1860A>G (p.Glu620=)
c.1668A>G (p.Glu556=)
c.1559A>G
n.699A>G
n.1434A>G
c.1818A>G (p.Glu606=)
c.1638A>G (p.Glu546=)
c.1626A>G (p.Glu542=)
c.1443A>G (p.Glu481=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.77942661A>TCA340883037NEXNc.1860A>T (p.Glu620Asp)
c.1668A>T (p.Glu556Asp)
c.1559A>T
n.699A>T
n.1434A>T
c.1818A>T (p.Glu606Asp)
c.1638A>T (p.Glu546Asp)
c.1626A>T (p.Glu542Asp)
c.1443A>T (p.Glu481Asp)
1g.77942662A>CCA340883039NEXNc.1861A>C (p.Ile621Leu)
c.1669A>C (p.Ile557Leu)
c.1560A>C
n.700A>C
n.1435A>C
c.1819A>C (p.Ile607Leu)
c.1639A>C (p.Ile547Leu)
c.1627A>C (p.Ile543Leu)
c.1444A>C (p.Ile482Leu)
1g.77942662A>GCA340883042NEXNc.1861A>G (p.Ile621Val)
c.1669A>G (p.Ile557Val)
c.1560A>G
n.700A>G
n.1435A>G
c.1819A>G (p.Ile607Val)
c.1639A>G (p.Ile547Val)
c.1627A>G (p.Ile543Val)
c.1444A>G (p.Ile482Val)
1g.77942662A>TCA340883040NEXNc.1861A>T (p.Ile621Leu)
c.1669A>T (p.Ile557Leu)
c.1560A>T
n.700A>T
n.1435A>T
c.1819A>T (p.Ile607Leu)
c.1639A>T (p.Ile547Leu)
c.1627A>T (p.Ile543Leu)
c.1444A>T (p.Ile482Leu)
1g.77942663T>ACA340883043NEXNc.1862T>A (p.Ile621Lys)
c.1670T>A (p.Ile557Lys)
c.1561T>A
n.701T>A
n.1436T>A
c.1820T>A (p.Ile607Lys)
c.1640T>A (p.Ile547Lys)
c.1628T>A (p.Ile543Lys)
c.1445T>A (p.Ile482Lys)
1g.77942663T>CCA340883045NEXNc.1862T>C (p.Ile621Thr)
c.1670T>C (p.Ile557Thr)
c.1561T>C
n.701T>C
n.1436T>C
c.1820T>C (p.Ile607Thr)
c.1640T>C (p.Ile547Thr)
c.1628T>C (p.Ile543Thr)
c.1445T>C (p.Ile482Thr)
gnomAD v4
1g.77942663T>GCA340883046NEXNc.1862T>G (p.Ile621Arg)
c.1670T>G (p.Ile557Arg)
c.1561T>G
n.701T>G
n.1436T>G
c.1820T>G (p.Ile607Arg)
c.1640T>G (p.Ile547Arg)
c.1628T>G (p.Ile543Arg)
c.1445T>G (p.Ile482Arg)
1g.77942664A>CCA418709666NEXNc.1863A>C (p.Ile621=)
c.1671A>C (p.Ile557=)
c.1562A>C
n.702A>C
n.1437A>C
c.1821A>C (p.Ile607=)
c.1641A>C (p.Ile547=)
c.1629A>C (p.Ile543=)
c.1446A>C (p.Ile482=)
1g.77942664A>GCA340883047NEXNc.1863A>G (p.Ile621Met)
c.1671A>G (p.Ile557Met)
c.1562A>G
n.702A>G
n.1437A>G
c.1821A>G (p.Ile607Met)
c.1641A>G (p.Ile547Met)
c.1629A>G (p.Ile543Met)
c.1446A>G (p.Ile482Met)
1g.77942664A>TCA418709667NEXNc.1863A>T (p.Ile621=)
c.1671A>T (p.Ile557=)
c.1562A>T
n.702A>T
n.1437A>T
c.1821A>T (p.Ile607=)
c.1641A>T (p.Ile547=)
c.1629A>T (p.Ile543=)
c.1446A>T (p.Ile482=)
1g.77942665C>ACA340883050NEXNc.1864C>A (p.Leu622Met)
c.1672C>A (p.Leu558Met)
c.1563C>A
n.703C>A
n.1438C>A
c.1822C>A (p.Leu608Met)
c.1642C>A (p.Leu548Met)
c.1630C>A (p.Leu544Met)
c.1447C>A (p.Leu483Met)
gnomAD v4
1g.77942665C>GCA340883056NEXNc.1864C>G (p.Leu622Val)
c.1672C>G (p.Leu558Val)
c.1563C>G
n.703C>G
n.1438C>G
c.1822C>G (p.Leu608Val)
c.1642C>G (p.Leu548Val)
c.1630C>G (p.Leu544Val)
c.1447C>G (p.Leu483Val)
1g.77942665C>TCA418709669NEXNc.1864C>T (p.Leu622=)
c.1672C>T (p.Leu558=)
c.1563C>T
n.703C>T
n.1438C>T
c.1822C>T (p.Leu608=)
c.1642C>T (p.Leu548=)
c.1630C>T (p.Leu544=)
c.1447C>T (p.Leu483=)
1g.77942666T>ACA340883058NEXNc.1865T>A (p.Leu622Gln)
c.1673T>A (p.Leu558Gln)
c.1564T>A
n.704T>A
n.1439T>A
c.1823T>A (p.Leu608Gln)
c.1643T>A (p.Leu548Gln)
c.1631T>A (p.Leu544Gln)
c.1448T>A (p.Leu483Gln)
1g.77942666T>CCA340883064NEXNc.1865T>C (p.Leu622Pro)
c.1673T>C (p.Leu558Pro)
c.1564T>C
n.704T>C
n.1439T>C
c.1823T>C (p.Leu608Pro)
c.1643T>C (p.Leu548Pro)
c.1631T>C (p.Leu544Pro)
c.1448T>C (p.Leu483Pro)
1g.77942666T>GCA340883066NEXNc.1865T>G (p.Leu622Arg)
c.1673T>G (p.Leu558Arg)
c.1564T>G
n.704T>G
n.1439T>G
c.1823T>G (p.Leu608Arg)
c.1643T>G (p.Leu548Arg)
c.1631T>G (p.Leu544Arg)
c.1448T>G (p.Leu483Arg)
gnomAD v4
1g.77942667G>ACA418709673NEXNc.1866G>A (p.Leu622=)
c.1674G>A (p.Leu558=)
c.1565G>A
n.705G>A
n.1440G>A
c.1824G>A (p.Leu608=)
c.1644G>A (p.Leu548=)
c.1632G>A (p.Leu544=)
c.1449G>A (p.Leu483=)
1g.77942667G>CCA418709674NEXNc.1866G>C (p.Leu622=)
c.1674G>C (p.Leu558=)
c.1565G>C
n.705G>C
n.1440G>C
c.1824G>C (p.Leu608=)
c.1644G>C (p.Leu548=)
c.1632G>C (p.Leu544=)
c.1449G>C (p.Leu483=)
1g.77942667G>TCA418709675NEXNc.1866G>T (p.Leu622=)
c.1674G>T (p.Leu558=)
c.1565G>T
n.705G>T
n.1440G>T
c.1824G>T (p.Leu608=)
c.1644G>T (p.Leu548=)
c.1632G>T (p.Leu544=)
c.1449G>T (p.Leu483=)
1g.77942668C>ACA340883068NEXNc.1867C>A (p.Gln623Lys)
c.1675C>A (p.Gln559Lys)
c.1566C>A
n.706C>A
n.1441C>A
c.1825C>A (p.Gln609Lys)
c.1645C>A (p.Gln549Lys)
c.1633C>A (p.Gln545Lys)
c.1450C>A (p.Gln484Lys)
1g.77942668C=CA1177631425NEXNc.1867C= (p.Gln623=)
c.1675C= (p.Gln559=)
c.1566C=
n.706C=
n.1441C=
c.1825C= (p.Gln609=)
c.1645C= (p.Gln549=)
c.1633C= (p.Gln545=)
c.1450C= (p.Gln484=)
1g.77942668C>GCA340883069NEXNc.1867C>G (p.Gln623Glu)
c.1675C>G (p.Gln559Glu)
c.1566C>G
n.706C>G
n.1441C>G
c.1825C>G (p.Gln609Glu)
c.1645C>G (p.Gln549Glu)
c.1633C>G (p.Gln545Glu)
c.1450C>G (p.Gln484Glu)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77942668C>TCA340883070NEXNc.1867C>T (p.Gln623Ter)
c.1675C>T (p.Gln559Ter)
c.1566C>T
n.706C>T
n.1441C>T
c.1825C>T (p.Gln609Ter)
c.1645C>T (p.Gln549Ter)
c.1633C>T (p.Gln545Ter)
c.1450C>T (p.Gln484Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77942669A=CA1177631426NEXNc.1868A= (p.Gln623=)
c.1676A= (p.Gln559=)
c.1567A=
n.707A=
n.1442A=
c.1826A= (p.Gln609=)
c.1646A= (p.Gln549=)
c.1634A= (p.Gln545=)
c.1451A= (p.Gln484=)
1g.77942669A>CCA340883075NEXNc.1868A>C (p.Gln623Pro)
c.1676A>C (p.Gln559Pro)
c.1567A>C
n.707A>C
n.1442A>C
c.1826A>C (p.Gln609Pro)
c.1646A>C (p.Gln549Pro)
c.1634A>C (p.Gln545Pro)
c.1451A>C (p.Gln484Pro)
1g.77942669A>GCA918996NEXNc.1868A>G (p.Gln623Arg)
c.1676A>G (p.Gln559Arg)
c.1567A>G
n.707A>G
n.1442A>G
c.1826A>G (p.Gln609Arg)
c.1646A>G (p.Gln549Arg)
c.1634A>G (p.Gln545Arg)
c.1451A>G (p.Gln484Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.77942669A>TCA340883073NEXNc.1868A>T (p.Gln623Leu)
c.1676A>T (p.Gln559Leu)
c.1567A>T
n.707A>T
n.1442A>T
c.1826A>T (p.Gln609Leu)
c.1646A>T (p.Gln549Leu)
c.1634A>T (p.Gln545Leu)
c.1451A>T (p.Gln484Leu)
1g.77942670G>ACA418709683NEXNc.1869G>A (p.Gln623=)
c.1677G>A (p.Gln559=)
c.1568G>A
n.708G>A
n.1443G>A
c.1827G>A (p.Gln609=)
c.1647G>A (p.Gln549=)
c.1635G>A (p.Gln545=)
c.1452G>A (p.Gln484=)
1g.77942670G>CCA340883076NEXNc.1869G>C (p.Gln623His)
c.1677G>C (p.Gln559His)
c.1568G>C
n.708G>C
n.1443G>C
c.1827G>C (p.Gln609His)
c.1647G>C (p.Gln549His)
c.1635G>C (p.Gln545His)
c.1452G>C (p.Gln484His)
1g.77942670G>TCA340883077NEXNc.1869G>T (p.Gln623His)
c.1677G>T (p.Gln559His)
c.1568G>T
n.708G>T
n.1443G>T
c.1827G>T (p.Gln609His)
c.1647G>T (p.Gln549His)
c.1635G>T (p.Gln545His)
c.1452G>T (p.Gln484His)
1g.77942671G>ACA340883078NEXNc.1870G>A (p.Asp624Asn)
c.1678G>A (p.Asp560Asn)
c.1569G>A
n.709G>A
n.1444G>A
c.1828G>A (p.Asp610Asn)
c.1648G>A (p.Asp550Asn)
c.1636G>A (p.Asp546Asn)
c.1453G>A (p.Asp485Asn)
1g.77942671G>CCA24691865NEXNc.1870G>C (p.Asp624His)
c.1678G>C (p.Asp560His)
c.1569G>C
n.709G>C
n.1444G>C
c.1828G>C (p.Asp610His)
c.1648G>C (p.Asp550His)
c.1636G>C (p.Asp546His)
c.1453G>C (p.Asp485His)
dbSNP
1g.77942671G=CA1177631427NEXNc.1870G= (p.Asp624=)
c.1678G= (p.Asp560=)
c.1569G=
n.709G=
n.1444G=
c.1828G= (p.Asp610=)
c.1648G= (p.Asp550=)
c.1636G= (p.Asp546=)
c.1453G= (p.Asp485=)
1g.77942671G>TCA340883079NEXNc.1870G>T (p.Asp624Tyr)
c.1678G>T (p.Asp560Tyr)
c.1569G>T
n.709G>T
n.1444G>T
c.1828G>T (p.Asp610Tyr)
c.1648G>T (p.Asp550Tyr)
c.1636G>T (p.Asp546Tyr)
c.1453G>T (p.Asp485Tyr)
gnomAD v4
1g.77942672A=CA1177631428NEXNc.1871A= (p.Asp624=)
c.1679A= (p.Asp560=)
c.1570A=
n.710A=
n.1445A=
c.1829A= (p.Asp610=)
c.1649A= (p.Asp550=)
c.1637A= (p.Asp546=)
c.1454A= (p.Asp485=)
1g.77942672A>CCA340883080NEXNc.1871A>C (p.Asp624Ala)
c.1679A>C (p.Asp560Ala)
c.1570A>C
n.710A>C
n.1445A>C
c.1829A>C (p.Asp610Ala)
c.1649A>C (p.Asp550Ala)
c.1637A>C (p.Asp546Ala)
c.1454A>C (p.Asp485Ala)
1g.77942672A>GCA340883081NEXNc.1871A>G (p.Asp624Gly)
c.1679A>G (p.Asp560Gly)
c.1570A>G
n.710A>G
n.1445A>G
c.1829A>G (p.Asp610Gly)
c.1649A>G (p.Asp550Gly)
c.1637A>G (p.Asp546Gly)
c.1454A>G (p.Asp485Gly)
dbSNP gnomAD v2 gnomAD v4
1g.77942672A>TCA340883082NEXNc.1871A>T (p.Asp624Val)
c.1679A>T (p.Asp560Val)
c.1570A>T
n.710A>T
n.1445A>T
c.1829A>T (p.Asp610Val)
c.1649A>T (p.Asp550Val)
c.1637A>T (p.Asp546Val)
c.1454A>T (p.Asp485Val)
1g.77942673T>ACA340883083NEXNc.1872T>A (p.Asp624Glu)
c.1680T>A (p.Asp560Glu)
c.1571T>A
n.711T>A
n.1446T>A
c.1830T>A (p.Asp610Glu)
c.1650T>A (p.Asp550Glu)
c.1638T>A (p.Asp546Glu)
c.1455T>A (p.Asp485Glu)
1g.77942673T>CCA418709694NEXNc.1872T>C (p.Asp624=)
c.1680T>C (p.Asp560=)
c.1571T>C
n.711T>C
n.1446T>C
c.1830T>C (p.Asp610=)
c.1650T>C (p.Asp550=)
c.1638T>C (p.Asp546=)
c.1455T>C (p.Asp485=)
1g.77942673T>GCA340883084NEXNc.1872T>G (p.Asp624Glu)
c.1680T>G (p.Asp560Glu)
c.1571T>G
n.711T>G
n.1446T>G
c.1830T>G (p.Asp610Glu)
c.1650T>G (p.Asp550Glu)
c.1638T>G (p.Asp546Glu)
c.1455T>G (p.Asp485Glu)
1g.77942673_77942676delinsTGGACA1177631429NEXNc.1872_1875delinsTGGA (p.Asp624=)
c.1680_1683delinsTGGA (p.Asp560=)
c.1571_1574delinsTGGA
n.711_714delinsTGGA
n.1446_1449delinsTGGA
c.1830_1833delinsTGGA (p.Asp610=)
c.1650_1653delinsTGGA (p.Asp550=)
c.1638_1641delinsTGGA (p.Asp546=)
c.1455_1458delinsTGGA (p.Asp485=)
1g.77942674G>ACA340883087NEXNc.1873G>A (p.Gly625Arg)
c.1681G>A (p.Gly561Arg)
c.1572G>A
n.712G>A
n.1447G>A
c.1831G>A (p.Gly611Arg)
c.1651G>A (p.Gly551Arg)
c.1639G>A (p.Gly547Arg)
c.1456G>A (p.Gly486Arg)
dbSNP gnomAD v4
1g.77942674G>CCA340883086NEXNc.1873G>C (p.Gly625Arg)
c.1681G>C (p.Gly561Arg)
c.1572G>C
n.712G>C
n.1447G>C
c.1831G>C (p.Gly611Arg)
c.1651G>C (p.Gly551Arg)
c.1639G>C (p.Gly547Arg)
c.1456G>C (p.Gly486Arg)
1g.77942674G=CA1177631430NEXNc.1873G= (p.Gly625=)
c.1681G= (p.Gly561=)
c.1572G=
n.712G=
n.1447G=
c.1831G= (p.Gly611=)
c.1651G= (p.Gly551=)
c.1639G= (p.Gly547=)
c.1456G= (p.Gly486=)
1g.77942674G>TCA340883085NEXNc.1873G>T (p.Gly625Ter)
c.1681G>T (p.Gly561Ter)
c.1572G>T
n.712G>T
n.1447G>T
c.1831G>T (p.Gly611Ter)
c.1651G>T (p.Gly551Ter)
c.1639G>T (p.Gly547Ter)
c.1456G>T (p.Gly486Ter)
1g.77942675_77942677delCA524231037NEXNc.1874_1876del (p.Gly625del)
c.1682_1684del (p.Gly561del)
c.1573_1575del
n.713_715del
n.1448_1450del
c.1832_1834del (p.Gly611del)
c.1652_1654del (p.Gly551del)
c.1640_1642del (p.Gly547del)
c.1457_1459del (p.Gly486del)
dbSNP gnomAD v2
1g.77942675G>ACA340883088NEXNc.1874G>A (p.Gly625Glu)
c.1682G>A (p.Gly561Glu)
c.1573G>A
n.713G>A
n.1448G>A
c.1832G>A (p.Gly611Glu)
c.1652G>A (p.Gly551Glu)
c.1640G>A (p.Gly547Glu)
c.1457G>A (p.Gly486Glu)
1g.77942675G>CCA340883089NEXNc.1874G>C (p.Gly625Ala)
c.1682G>C (p.Gly561Ala)
c.1573G>C
n.713G>C
n.1448G>C
c.1832G>C (p.Gly611Ala)
c.1652G>C (p.Gly551Ala)
c.1640G>C (p.Gly547Ala)
c.1457G>C (p.Gly486Ala)
1g.77942675G=CA1177631431NEXNc.1874G= (p.Gly625=)
c.1682G= (p.Gly561=)
c.1573G=
n.713G=
n.1448G=
c.1832G= (p.Gly611=)
c.1652G= (p.Gly551=)
c.1640G= (p.Gly547=)
c.1457G= (p.Gly486=)
1g.77942675G>TCA340883090NEXNc.1874G>T (p.Gly625Val)
c.1682G>T (p.Gly561Val)
c.1573G>T
n.713G>T
n.1448G>T
c.1832G>T (p.Gly611Val)
c.1652G>T (p.Gly551Val)
c.1640G>T (p.Gly547Val)
c.1457G>T (p.Gly486Val)
dbSNP gnomAD v4
1g.77942677_77942678delCA2586966787NEXNc.1876_1877del (p.Glu626ArgfsTer6)
c.1684_1685del (p.Glu562ArgfsTer6)
c.1575_1576del
n.715_716del
n.1450_1451del
c.1834_1835del (p.Glu612ArgfsTer6)
c.1654_1655del (p.Glu552ArgfsTer6)
c.1642_1643del (p.Glu548ArgfsTer6)
c.1459_1460del (p.Glu487ArgfsTer6)
1g.77942676A>CCA418709702NEXNc.1875A>C (p.Gly625=)
c.1683A>C (p.Gly561=)
c.1574A>C
n.714A>C
n.1449A>C
c.1833A>C (p.Gly611=)
c.1653A>C (p.Gly551=)
c.1641A>C (p.Gly547=)
c.1458A>C (p.Gly486=)
1g.77942676A>GCA418709703NEXNc.1875A>G (p.Gly625=)
c.1683A>G (p.Gly561=)
c.1574A>G
n.714A>G
n.1449A>G
c.1833A>G (p.Gly611=)
c.1653A>G (p.Gly551=)
c.1641A>G (p.Gly547=)
c.1458A>G (p.Gly486=)
gnomAD v4
1g.77942676A>TCA418709705NEXNc.1875A>T (p.Gly625=)
c.1683A>T (p.Gly561=)
c.1574A>T
n.714A>T
n.1449A>T
c.1833A>T (p.Gly611=)
c.1653A>T (p.Gly551=)
c.1641A>T (p.Gly547=)
c.1458A>T (p.Gly486=)
1g.77942679_77942681delCA2580611176NEXNc.1878_1880del (p.Glu626del)
c.1686_1688del (p.Glu562del)
c.1577_1579del
n.717_719del
n.1452_1454del
c.1836_1838del (p.Glu612del)
c.1656_1658del (p.Glu552del)
c.1644_1646del (p.Glu548del)
c.1461_1463del (p.Glu487del)
ClinVar dbSNP gnomAD v4
1g.77942677G>ACA340883091NEXNc.1876G>A (p.Glu626Lys)
c.1684G>A (p.Glu562Lys)
c.1575G>A
n.715G>A
n.1450G>A
c.1834G>A (p.Glu612Lys)
c.1654G>A (p.Glu552Lys)
c.1642G>A (p.Glu548Lys)
c.1459G>A (p.Glu487Lys)
1g.77942677G>CCA340883092NEXNc.1876G>C (p.Glu626Gln)
c.1684G>C (p.Glu562Gln)
c.1575G>C
n.715G>C
n.1450G>C
c.1834G>C (p.Glu612Gln)
c.1654G>C (p.Glu552Gln)
c.1642G>C (p.Glu548Gln)
c.1459G>C (p.Glu487Gln)
1g.77942677G>TCA340883093NEXNc.1876G>T (p.Glu626Ter)
c.1684G>T (p.Glu562Ter)
c.1575G>T
n.715G>T
n.1450G>T
c.1834G>T (p.Glu612Ter)
c.1654G>T (p.Glu552Ter)
c.1642G>T (p.Glu548Ter)
c.1459G>T (p.Glu487Ter)
1g.77942678A=CA1177631432NEXNc.1877A= (p.Glu626=)
c.1685A= (p.Glu562=)
c.1576A=
n.716A=
n.1451A=
c.1835A= (p.Glu612=)
c.1655A= (p.Glu552=)
c.1643A= (p.Glu548=)
c.1460A= (p.Glu487=)
1g.77942678A>CCA340883096NEXNc.1877A>C (p.Glu626Ala)
c.1685A>C (p.Glu562Ala)
c.1576A>C
n.716A>C
n.1451A>C
c.1835A>C (p.Glu612Ala)
c.1655A>C (p.Glu552Ala)
c.1643A>C (p.Glu548Ala)
c.1460A>C (p.Glu487Ala)
1g.77942678A>GCA340883094NEXNc.1877A>G (p.Glu626Gly)
c.1685A>G (p.Glu562Gly)
c.1576A>G
n.716A>G
n.1451A>G
c.1835A>G (p.Glu612Gly)
c.1655A>G (p.Glu552Gly)
c.1643A>G (p.Glu548Gly)
c.1460A>G (p.Glu487Gly)
ClinVar dbSNP gnomAD v4
1g.77942678A>TCA340883095NEXNc.1877A>T (p.Glu626Val)
c.1685A>T (p.Glu562Val)
c.1576A>T
n.716A>T
n.1451A>T
c.1835A>T (p.Glu612Val)
c.1655A>T (p.Glu552Val)
c.1643A>T (p.Glu548Val)
c.1460A>T (p.Glu487Val)
1g.77942679dupCA2573051622NEXNc.1878dup (p.Asp627ArgfsTer6)
c.1686dup (p.Asp563ArgfsTer6)
c.1577dup
n.717dup
n.1452dup
c.1836dup (p.Asp613ArgfsTer6)
c.1656dup (p.Asp553ArgfsTer6)
c.1644dup (p.Asp549ArgfsTer6)
c.1461dup (p.Asp488ArgfsTer6)
ClinVar dbSNP
1g.77942679A>CCA340883097NEXNc.1878A>C (p.Glu626Asp)
c.1686A>C (p.Glu562Asp)
c.1577A>C
n.717A>C
n.1452A>C
c.1836A>C (p.Glu612Asp)
c.1656A>C (p.Glu552Asp)
c.1644A>C (p.Glu548Asp)
c.1461A>C (p.Glu487Asp)
1g.77942679A>GCA418709708NEXNc.1878A>G (p.Glu626=)
c.1686A>G (p.Glu562=)
c.1577A>G
n.717A>G
n.1452A>G
c.1836A>G (p.Glu612=)
c.1656A>G (p.Glu552=)
c.1644A>G (p.Glu548=)
c.1461A>G (p.Glu487=)
gnomAD v4
1g.77942679A>TCA340883098NEXNc.1878A>T (p.Glu626Asp)
c.1686A>T (p.Glu562Asp)
c.1577A>T
n.717A>T
n.1452A>T
c.1836A>T (p.Glu612Asp)
c.1656A>T (p.Glu552Asp)
c.1644A>T (p.Glu548Asp)
c.1461A>T (p.Glu487Asp)
gnomAD v4
1g.77942680G>ACA340883099NEXNc.1879G>A (p.Asp627Asn)
c.1687G>A (p.Asp563Asn)
c.1578G>A
n.718G>A
n.1453G>A
c.1837G>A (p.Asp613Asn)
c.1657G>A (p.Asp553Asn)
c.1645G>A (p.Asp549Asn)
c.1462G>A (p.Asp488Asn)
1g.77942680G>CCA340883100NEXNc.1879G>C (p.Asp627His)
c.1687G>C (p.Asp563His)
c.1578G>C
n.718G>C
n.1453G>C
c.1837G>C (p.Asp613His)
c.1657G>C (p.Asp553His)
c.1645G>C (p.Asp549His)
c.1462G>C (p.Asp488His)
1g.77942680G>TCA340883101NEXNc.1879G>T (p.Asp627Tyr)
c.1687G>T (p.Asp563Tyr)
c.1578G>T
n.718G>T
n.1453G>T
c.1837G>T (p.Asp613Tyr)
c.1657G>T (p.Asp553Tyr)
c.1645G>T (p.Asp549Tyr)
c.1462G>T (p.Asp488Tyr)
1g.77942681A=CA1177631433NEXNc.1880A= (p.Asp627=)
c.1688A= (p.Asp563=)
c.1579A=
n.719A=
n.1454A=
c.1838A= (p.Asp613=)
c.1658A= (p.Asp553=)
c.1646A= (p.Asp549=)
c.1463A= (p.Asp488=)
1g.77942681A>CCA340883102NEXNc.1880A>C (p.Asp627Ala)
c.1688A>C (p.Asp563Ala)
c.1579A>C
n.719A>C
n.1454A>C
c.1838A>C (p.Asp613Ala)
c.1658A>C (p.Asp553Ala)
c.1646A>C (p.Asp549Ala)
c.1463A>C (p.Asp488Ala)
1g.77942681A>GCA340883104NEXNc.1880A>G (p.Asp627Gly)
c.1688A>G (p.Asp563Gly)
c.1579A>G
n.719A>G
n.1454A>G
c.1838A>G (p.Asp613Gly)
c.1658A>G (p.Asp553Gly)
c.1646A>G (p.Asp549Gly)
c.1463A>G (p.Asp488Gly)
dbSNP COSMIC
1g.77942681A>TCA340883103NEXNc.1880A>T (p.Asp627Val)
c.1688A>T (p.Asp563Val)
c.1579A>T
n.719A>T
n.1454A>T
c.1838A>T (p.Asp613Val)
c.1658A>T (p.Asp553Val)
c.1646A>T (p.Asp549Val)
c.1463A>T (p.Asp488Val)
1g.77942682C>ACA340883105NEXNc.1881C>A (p.Asp627Glu)
c.1689C>A (p.Asp563Glu)
c.1580C>A
n.720C>A
n.1455C>A
c.1839C>A (p.Asp613Glu)
c.1659C>A (p.Asp553Glu)
c.1647C>A (p.Asp549Glu)
c.1464C>A (p.Asp488Glu)
1g.77942682C=CA1177631434NEXNc.1881C= (p.Asp627=)
c.1689C= (p.Asp563=)
c.1580C=
n.720C=
n.1455C=
c.1839C= (p.Asp613=)
c.1659C= (p.Asp553=)
c.1647C= (p.Asp549=)
c.1464C= (p.Asp488=)
1g.77942682C>GCA340883106NEXNc.1881C>G (p.Asp627Glu)
c.1689C>G (p.Asp563Glu)
c.1580C>G
n.720C>G
n.1455C>G
c.1839C>G (p.Asp613Glu)
c.1659C>G (p.Asp553Glu)
c.1647C>G (p.Asp549Glu)
c.1464C>G (p.Asp488Glu)
1g.77942682C>TCA418709714NEXNc.1881C>T (p.Asp627=)
c.1689C>T (p.Asp563=)
c.1580C>T
n.720C>T
n.1455C>T
c.1839C>T (p.Asp613=)
c.1659C>T (p.Asp553=)
c.1647C>T (p.Asp549=)
c.1464C>T (p.Asp488=)
1g.77942683T>ACA340883107NEXNc.1882T>A (p.Tyr628Asn)
c.1690T>A (p.Tyr564Asn)
c.1581T>A
n.721T>A
n.1456T>A
c.1840T>A (p.Tyr614Asn)
c.1660T>A (p.Tyr554Asn)
c.1648T>A (p.Tyr550Asn)
c.1465T>A (p.Tyr489Asn)
dbSNP gnomAD v2 gnomAD v4
1g.77942683T>CCA340883108NEXNc.1882T>C (p.Tyr628His)
c.1690T>C (p.Tyr564His)
c.1581T>C
n.721T>C
n.1456T>C
c.1840T>C (p.Tyr614His)
c.1660T>C (p.Tyr554His)
c.1648T>C (p.Tyr550His)
c.1465T>C (p.Tyr489His)
1g.77942683T>GCA340883109NEXNc.1882T>G (p.Tyr628Asp)
c.1690T>G (p.Tyr564Asp)
c.1581T>G
n.721T>G
n.1456T>G
c.1840T>G (p.Tyr614Asp)
c.1660T>G (p.Tyr554Asp)
c.1648T>G (p.Tyr550Asp)
c.1465T>G (p.Tyr489Asp)
1g.77942683T=CA1177631435NEXNc.1882T= (p.Tyr628=)
c.1690T= (p.Tyr564=)
c.1581T=
n.721T=
n.1456T=
c.1840T= (p.Tyr614=)
c.1660T= (p.Tyr554=)
c.1648T= (p.Tyr550=)
c.1465T= (p.Tyr489=)
1g.77942683_77942684insTTCA2646275674NEXNc.1882_1883insTT (p.Tyr628PhefsTer?)
c.1690_1691insTT (p.Tyr564PhefsTer?)
c.1581_1582insTT
n.721_722insTT
n.1456_1457insTT
c.1840_1841insTT (p.Tyr614PhefsTer?)
c.1660_1661insTT (p.Tyr554PhefsTer?)
c.1648_1649insTT (p.Tyr550PhefsTer?)
c.1465_1466insTT (p.Tyr489PhefsTer?)
gnomAD v4
1g.77942683dupCA24691876NEXNc.1882dup (p.Tyr628LeufsTer5)
c.1690dup (p.Tyr564LeufsTer5)
c.1581dup
n.721dup
n.1456dup
c.1840dup (p.Tyr614LeufsTer5)
c.1660dup (p.Tyr554LeufsTer5)
c.1648dup (p.Tyr550LeufsTer5)
c.1465dup (p.Tyr489LeufsTer5)
dbSNP
1g.77942684A=CA1177631436NEXNc.1883A= (p.Tyr628=)
c.1691A= (p.Tyr564=)
c.1582A=
n.722A=
n.1457A=
c.1841A= (p.Tyr614=)
c.1661A= (p.Tyr554=)
c.1649A= (p.Tyr550=)
c.1466A= (p.Tyr489=)
1g.77942684A>CCA340883110NEXNc.1883A>C (p.Tyr628Ser)
c.1691A>C (p.Tyr564Ser)
c.1582A>C
n.722A>C
n.1457A>C
c.1841A>C (p.Tyr614Ser)
c.1661A>C (p.Tyr554Ser)
c.1649A>C (p.Tyr550Ser)
c.1466A>C (p.Tyr489Ser)
1g.77942684A>GCA918997NEXNc.1883A>G (p.Tyr628Cys)
c.1691A>G (p.Tyr564Cys)
c.1582A>G
n.722A>G
n.1457A>G
c.1841A>G (p.Tyr614Cys)
c.1661A>G (p.Tyr554Cys)
c.1649A>G (p.Tyr550Cys)
c.1466A>G (p.Tyr489Cys)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.77942684A>TCA340883111NEXNc.1883A>T (p.Tyr628Phe)
c.1691A>T (p.Tyr564Phe)
c.1582A>T
n.722A>T
n.1457A>T
c.1841A>T (p.Tyr614Phe)
c.1661A>T (p.Tyr554Phe)
c.1649A>T (p.Tyr550Phe)
c.1466A>T (p.Tyr489Phe)
1g.77942685T>ACA340883112NEXNc.1884T>A (p.Tyr628Ter)
c.1692T>A (p.Tyr564Ter)
c.1583T>A
n.723T>A
n.1458T>A
c.1842T>A (p.Tyr614Ter)
c.1662T>A (p.Tyr554Ter)
c.1650T>A (p.Tyr550Ter)
c.1467T>A (p.Tyr489Ter)
1g.77942685T>CCA418709720NEXNc.1884T>C (p.Tyr628=)
c.1692T>C (p.Tyr564=)
c.1583T>C
n.723T>C
n.1458T>C
c.1842T>C (p.Tyr614=)
c.1662T>C (p.Tyr554=)
c.1650T>C (p.Tyr550=)
c.1467T>C (p.Tyr489=)
dbSNP gnomAD v2 gnomAD v4
1g.77942685T>GCA340883113NEXNc.1884T>G (p.Tyr628Ter)
c.1692T>G (p.Tyr564Ter)
c.1583T>G
n.723T>G
n.1458T>G
c.1842T>G (p.Tyr614Ter)
c.1662T>G (p.Tyr554Ter)
c.1650T>G (p.Tyr550Ter)
c.1467T>G (p.Tyr489Ter)
1g.77942685T=CA1177631437NEXNc.1884T= (p.Tyr628=)
c.1692T= (p.Tyr564=)
c.1583T=
n.723T=
n.1458T=
c.1842T= (p.Tyr614=)
c.1662T= (p.Tyr554=)
c.1650T= (p.Tyr550=)
c.1467T= (p.Tyr489=)
1g.77942686C>ACA340883116NEXNc.1885C>A (p.Gln629Lys)
c.1693C>A (p.Gln565Lys)
c.1584C>A
n.724C>A
n.1459C>A
c.1843C>A (p.Gln615Lys)
c.1663C>A (p.Gln555Lys)
c.1651C>A (p.Gln551Lys)
c.1468C>A (p.Gln490Lys)
1g.77942686C>GCA340883115NEXNc.1885C>G (p.Gln629Glu)
c.1693C>G (p.Gln565Glu)
c.1584C>G
n.724C>G
n.1459C>G
c.1843C>G (p.Gln615Glu)
c.1663C>G (p.Gln555Glu)
c.1651C>G (p.Gln551Glu)
c.1468C>G (p.Gln490Glu)
1g.77942686C>TCA340883114NEXNc.1885C>T (p.Gln629Ter)
c.1693C>T (p.Gln565Ter)
c.1584C>T
n.724C>T
n.1459C>T
c.1843C>T (p.Gln615Ter)
c.1663C>T (p.Gln555Ter)
c.1651C>T (p.Gln551Ter)
c.1468C>T (p.Gln490Ter)
1g.77942687A>CCA340883117NEXNc.1886A>C (p.Gln629Pro)
c.1694A>C (p.Gln565Pro)
c.1585A>C
n.725A>C
n.1460A>C
c.1844A>C (p.Gln615Pro)
c.1664A>C (p.Gln555Pro)
c.1652A>C (p.Gln551Pro)
c.1469A>C (p.Gln490Pro)
1g.77942687A>GCA340883119NEXNc.1886A>G (p.Gln629Arg)
c.1694A>G (p.Gln565Arg)
c.1585A>G
n.725A>G
n.1460A>G
c.1844A>G (p.Gln615Arg)
c.1664A>G (p.Gln555Arg)
c.1652A>G (p.Gln551Arg)
c.1469A>G (p.Gln490Arg)
ClinVar gnomAD v4
1g.77942687A>TCA340883118NEXNc.1886A>T (p.Gln629Leu)
c.1694A>T (p.Gln565Leu)
c.1585A>T
n.725A>T
n.1460A>T
c.1844A>T (p.Gln615Leu)
c.1664A>T (p.Gln555Leu)
c.1652A>T (p.Gln551Leu)
c.1469A>T (p.Gln490Leu)
1g.77942688A=CA1148224382NEXNc.1887A= (p.Gln629=)
c.1695A= (p.Gln565=)
c.1586A=
n.726A=
n.1461A=
c.1845A= (p.Gln615=)
c.1665A= (p.Gln555=)
c.1653A= (p.Gln551=)
c.1470A= (p.Gln490=)
1g.77942688A>CCA340883120NEXNc.1887A>C (p.Gln629His)
c.1695A>C (p.Gln565His)
c.1586A>C
n.726A>C
n.1461A>C
c.1845A>C (p.Gln615His)
c.1665A>C (p.Gln555His)
c.1653A>C (p.Gln551His)
c.1470A>C (p.Gln490His)
1g.77942688A>GCA177495NEXNc.1887A>G (p.Gln629=)
c.1695A>G (p.Gln565=)
c.1586A>G
n.726A>G
n.1461A>G
c.1845A>G (p.Gln615=)
c.1665A>G (p.Gln555=)
c.1653A>G (p.Gln551=)
c.1470A>G (p.Gln490=)
ClinVar dbSNP gnomAD v4
1g.77942688A>TCA340883121NEXNc.1887A>T (p.Gln629His)
c.1695A>T (p.Gln565His)
c.1586A>T
n.726A>T
n.1461A>T
c.1845A>T (p.Gln615His)
c.1665A>T (p.Gln555His)
c.1653A>T (p.Gln551His)
c.1470A>T (p.Gln490His)
1g.77942689T>ACA340883122NEXNc.1888T>A (p.Tyr630Asn)
c.1696T>A (p.Tyr566Asn)
c.1587T>A
n.727T>A
n.1462T>A
c.1846T>A (p.Tyr616Asn)
c.1666T>A (p.Tyr556Asn)
c.1654T>A (p.Tyr552Asn)
c.1471T>A (p.Tyr491Asn)
1g.77942689T>CCA340883124NEXNc.1888T>C (p.Tyr630His)
c.1696T>C (p.Tyr566His)
c.1587T>C
n.727T>C
n.1462T>C
c.1846T>C (p.Tyr616His)
c.1666T>C (p.Tyr556His)
c.1654T>C (p.Tyr552His)
c.1471T>C (p.Tyr491His)
1g.77942689T>GCA340883123NEXNc.1888T>G (p.Tyr630Asp)
c.1696T>G (p.Tyr566Asp)
c.1587T>G
n.727T>G
n.1462T>G
c.1846T>G (p.Tyr616Asp)
c.1666T>G (p.Tyr556Asp)
c.1654T>G (p.Tyr552Asp)
c.1471T>G (p.Tyr491Asp)
1g.77942689_77942690delinsTACA1177631438NEXNc.1888_1889delinsTA (p.Tyr630=)
c.1696_1697delinsTA (p.Tyr566=)
c.1587_1588delinsTA
n.727_728delinsTA
n.1462_1463delinsTA
c.1846_1847delinsTA (p.Tyr616=)
c.1666_1667delinsTA (p.Tyr556=)
c.1654_1655delinsTA (p.Tyr552=)
c.1471_1472delinsTA (p.Tyr491=)
1g.77942690delCA918998NEXNc.1889del (p.Tyr630LeufsTer?)
c.1697del (p.Tyr566LeufsTer?)
c.1588del
n.728del
n.1463del
c.1847del (p.Tyr616LeufsTer?)
c.1667del (p.Tyr556LeufsTer?)
c.1655del (p.Tyr552LeufsTer?)
c.1472del (p.Tyr491LeufsTer?)
dbSNP ExAC gnomAD v2
1g.77942690A=CA1177631439NEXNc.1889A= (p.Tyr630=)
c.1697A= (p.Tyr566=)
c.1588A=
n.728A=
n.1463A=
c.1847A= (p.Tyr616=)
c.1667A= (p.Tyr556=)
c.1655A= (p.Tyr552=)
c.1472A= (p.Tyr491=)
1g.77942690A>CCA340883125NEXNc.1889A>C (p.Tyr630Ser)
c.1697A>C (p.Tyr566Ser)
c.1588A>C
n.728A>C
n.1463A>C
c.1847A>C (p.Tyr616Ser)
c.1667A>C (p.Tyr556Ser)
c.1655A>C (p.Tyr552Ser)
c.1472A>C (p.Tyr491Ser)
1g.77942690A>GCA918999NEXNc.1889A>G (p.Tyr630Cys)
c.1697A>G (p.Tyr566Cys)
c.1588A>G
n.728A>G
n.1463A>G
c.1847A>G (p.Tyr616Cys)
c.1667A>G (p.Tyr556Cys)
c.1655A>G (p.Tyr552Cys)
c.1472A>G (p.Tyr491Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942690A>TCA340883126NEXNc.1889A>T (p.Tyr630Phe)
c.1697A>T (p.Tyr566Phe)
c.1588A>T
n.728A>T
n.1463A>T
c.1847A>T (p.Tyr616Phe)
c.1667A>T (p.Tyr556Phe)
c.1655A>T (p.Tyr552Phe)
c.1472A>T (p.Tyr491Phe)
1g.77942691T>ACA340883127NEXNc.1890T>A (p.Tyr630Ter)
c.1698T>A (p.Tyr566Ter)
c.1589T>A
n.729T>A
n.1464T>A
c.1848T>A (p.Tyr616Ter)
c.1668T>A (p.Tyr556Ter)
c.1656T>A (p.Tyr552Ter)
c.1473T>A (p.Tyr491Ter)
1g.77942691T>CCA16603698NEXNc.1890T>C (p.Tyr630=)
c.1698T>C (p.Tyr566=)
c.1589T>C
n.729T>C
n.1464T>C
c.1848T>C (p.Tyr616=)
c.1668T>C (p.Tyr556=)
c.1656T>C (p.Tyr552=)
c.1473T>C (p.Tyr491=)
ClinVar dbSNP gnomAD v4
1g.77942691T>GCA340883128NEXNc.1890T>G (p.Tyr630Ter)
c.1698T>G (p.Tyr566Ter)
c.1589T>G
n.729T>G
n.1464T>G
c.1848T>G (p.Tyr616Ter)
c.1668T>G (p.Tyr556Ter)
c.1656T>G (p.Tyr552Ter)
c.1473T>G (p.Tyr491Ter)
1g.77942691T=CA1177631440NEXNc.1890T= (p.Tyr630=)
c.1698T= (p.Tyr566=)
c.1589T=
n.729T=
n.1464T=
c.1848T= (p.Tyr616=)
c.1668T= (p.Tyr556=)
c.1656T= (p.Tyr552=)
c.1473T= (p.Tyr491=)
1g.77942692A>CCA340883129NEXNc.1891A>C (p.Ile631Leu)
c.1699A>C (p.Ile567Leu)
c.1590A>C
n.730A>C
n.1465A>C
c.1849A>C (p.Ile617Leu)
c.1669A>C (p.Ile557Leu)
c.1657A>C (p.Ile553Leu)
c.1474A>C (p.Ile492Leu)
1g.77942692A>GCA340883130NEXNc.1891A>G (p.Ile631Val)
c.1699A>G (p.Ile567Val)
c.1590A>G
n.730A>G
n.1465A>G
c.1849A>G (p.Ile617Val)
c.1669A>G (p.Ile557Val)
c.1657A>G (p.Ile553Val)
c.1474A>G (p.Ile492Val)
1g.77942692A>TCA340883131NEXNc.1891A>T (p.Ile631Phe)
c.1699A>T (p.Ile567Phe)
c.1590A>T
n.730A>T
n.1465A>T
c.1849A>T (p.Ile617Phe)
c.1669A>T (p.Ile557Phe)
c.1657A>T (p.Ile553Phe)
c.1474A>T (p.Ile492Phe)
1g.77942693T>ACA340883133NEXNc.1892T>A (p.Ile631Asn)
c.1700T>A (p.Ile567Asn)
c.1591T>A
n.731T>A
n.1466T>A
c.1850T>A (p.Ile617Asn)
c.1670T>A (p.Ile557Asn)
c.1658T>A (p.Ile553Asn)
c.1475T>A (p.Ile492Asn)
1g.77942693T>CCA919000NEXNc.1892T>C (p.Ile631Thr)
c.1700T>C (p.Ile567Thr)
c.1591T>C
n.731T>C
n.1466T>C
c.1850T>C (p.Ile617Thr)
c.1670T>C (p.Ile557Thr)
c.1658T>C (p.Ile553Thr)
c.1475T>C (p.Ile492Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942693T>GCA340883132NEXNc.1892T>G (p.Ile631Ser)
c.1700T>G (p.Ile567Ser)
c.1591T>G
n.731T>G
n.1466T>G
c.1850T>G (p.Ile617Ser)
c.1670T>G (p.Ile557Ser)
c.1658T>G (p.Ile553Ser)
c.1475T>G (p.Ile492Ser)
1g.77942693T=CA1177631441NEXNc.1892T= (p.Ile631=)
c.1700T= (p.Ile567=)
c.1591T=
n.731T=
n.1466T=
c.1850T= (p.Ile617=)
c.1670T= (p.Ile557=)
c.1658T= (p.Ile553=)
c.1475T= (p.Ile492=)
1g.77942694T>ACA418709729NEXNc.1893T>A (p.Ile631=)
c.1701T>A (p.Ile567=)
c.1592T>A
n.732T>A
n.1467T>A
c.1851T>A (p.Ile617=)
c.1671T>A (p.Ile557=)
c.1659T>A (p.Ile553=)
c.1476T>A (p.Ile492=)
1g.77942694T>CCA418709728NEXNc.1893T>C (p.Ile631=)
c.1701T>C (p.Ile567=)
c.1592T>C
n.732T>C
n.1467T>C
c.1851T>C (p.Ile617=)
c.1671T>C (p.Ile557=)
c.1659T>C (p.Ile553=)
c.1476T>C (p.Ile492=)
1g.77942694T>GCA340883134NEXNc.1893T>G (p.Ile631Met)
c.1701T>G (p.Ile567Met)
c.1592T>G
n.732T>G
n.1467T>G
c.1851T>G (p.Ile617Met)
c.1671T>G (p.Ile557Met)
c.1659T>G (p.Ile553Met)
c.1476T>G (p.Ile492Met)
1g.77942695G>ACA340883135NEXNc.1894G>A (p.Glu632Lys)
c.1702G>A (p.Glu568Lys)
c.1593G>A
n.733G>A
n.1468G>A
c.1852G>A (p.Glu618Lys)
c.1672G>A (p.Glu558Lys)
c.1660G>A (p.Glu554Lys)
c.1477G>A (p.Glu493Lys)
gnomAD v4
1g.77942695G>CCA919001NEXNc.1894G>C (p.Glu632Gln)
c.1702G>C (p.Glu568Gln)
c.1593G>C
n.733G>C
n.1468G>C
c.1852G>C (p.Glu618Gln)
c.1672G>C (p.Glu558Gln)
c.1660G>C (p.Glu554Gln)
c.1477G>C (p.Glu493Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942695G=CA1143764266NEXNc.1894G= (p.Glu632=)
c.1702G= (p.Glu568=)
c.1593G=
n.733G=
n.1468G=
c.1852G= (p.Glu618=)
c.1672G= (p.Glu558=)
c.1660G= (p.Glu554=)
c.1477G= (p.Glu493=)
1g.77942695G>TCA340883136NEXNc.1894G>T (p.Glu632Ter)
c.1702G>T (p.Glu568Ter)
c.1593G>T
n.733G>T
n.1468G>T
c.1852G>T (p.Glu618Ter)
c.1672G>T (p.Glu558Ter)
c.1660G>T (p.Glu554Ter)
c.1477G>T (p.Glu493Ter)
gnomAD v4
1g.77942696A>CCA340883137NEXNc.1895A>C (p.Glu632Ala)
c.1703A>C (p.Glu568Ala)
c.1594A>C
n.734A>C
n.1469A>C
c.1853A>C (p.Glu618Ala)
c.1673A>C (p.Glu558Ala)
c.1661A>C (p.Glu554Ala)
c.1478A>C (p.Glu493Ala)
1g.77942696A>GCA340883138NEXNc.1895A>G (p.Glu632Gly)
c.1703A>G (p.Glu568Gly)
c.1594A>G
n.734A>G
n.1469A>G
c.1853A>G (p.Glu618Gly)
c.1673A>G (p.Glu558Gly)
c.1661A>G (p.Glu554Gly)
c.1478A>G (p.Glu493Gly)
1g.77942696A>TCA340883139NEXNc.1895A>T (p.Glu632Val)
c.1703A>T (p.Glu568Val)
c.1594A>T
n.734A>T
n.1469A>T
c.1853A>T (p.Glu618Val)
c.1673A>T (p.Glu558Val)
c.1661A>T (p.Glu554Val)
c.1478A>T (p.Glu493Val)
1g.77942697A>CCA340883140NEXNc.1896A>C (p.Glu632Asp)
c.1704A>C (p.Glu568Asp)
c.1595A>C
n.735A>C
n.1470A>C
c.1854A>C (p.Glu618Asp)
c.1674A>C (p.Glu558Asp)
c.1662A>C (p.Glu554Asp)
c.1479A>C (p.Glu493Asp)
1g.77942697A>GCA418709732NEXNc.1896A>G (p.Glu632=)
c.1704A>G (p.Glu568=)
c.1595A>G
n.735A>G
n.1470A>G
c.1854A>G (p.Glu618=)
c.1674A>G (p.Glu558=)
c.1662A>G (p.Glu554=)
c.1479A>G (p.Glu493=)
1g.77942697A>TCA340883141NEXNc.1896A>T (p.Glu632Asp)
c.1704A>T (p.Glu568Asp)
c.1595A>T
n.735A>T
n.1470A>T
c.1854A>T (p.Glu618Asp)
c.1674A>T (p.Glu558Asp)
c.1662A>T (p.Glu554Asp)
c.1479A>T (p.Glu493Asp)
1g.77942698A>CCA418709734NEXNc.1897A>C (p.Arg633=)
c.1705A>C (p.Arg569=)
c.1596A>C
n.736A>C
n.1471A>C
c.1855A>C (p.Arg619=)
c.1675A>C (p.Arg559=)
c.1663A>C (p.Arg555=)
c.1480A>C (p.Arg494=)
1g.77942698A>GCA340883142NEXNc.1897A>G (p.Arg633Gly)
c.1705A>G (p.Arg569Gly)
c.1596A>G
n.736A>G
n.1471A>G
c.1855A>G (p.Arg619Gly)
c.1675A>G (p.Arg559Gly)
c.1663A>G (p.Arg555Gly)
c.1480A>G (p.Arg494Gly)
1g.77942698A>TCA340883143NEXNc.1897A>T (p.Arg633Trp)
c.1705A>T (p.Arg569Trp)
c.1596A>T
n.736A>T
n.1471A>T
c.1855A>T (p.Arg619Trp)
c.1675A>T (p.Arg559Trp)
c.1663A>T (p.Arg555Trp)
c.1480A>T (p.Arg494Trp)
1g.77942699G>ACA919003NEXNc.1898G>A (p.Arg633Lys)
c.1706G>A (p.Arg569Lys)
c.1597G>A
n.737G>A
n.1472G>A
c.1856G>A (p.Arg619Lys)
c.1676G>A (p.Arg559Lys)
c.1664G>A (p.Arg555Lys)
c.1481G>A (p.Arg494Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77942699G>CCA919002NEXNc.1898G>C (p.Arg633Thr)
c.1706G>C (p.Arg569Thr)
c.1597G>C
n.737G>C
n.1472G>C
c.1856G>C (p.Arg619Thr)
c.1676G>C (p.Arg559Thr)
c.1664G>C (p.Arg555Thr)
c.1481G>C (p.Arg494Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77942699G=CA1177631442NEXNc.1898G= (p.Arg633=)
c.1706G= (p.Arg569=)
c.1597G=
n.737G=
n.1472G=
c.1856G= (p.Arg619=)
c.1676G= (p.Arg559=)
c.1664G= (p.Arg555=)
c.1481G= (p.Arg494=)
1g.77942699G>TCA340883144NEXNc.1898G>T (p.Arg633Met)
c.1706G>T (p.Arg569Met)
c.1597G>T
n.737G>T
n.1472G>T
c.1856G>T (p.Arg619Met)
c.1676G>T (p.Arg559Met)
c.1664G>T (p.Arg555Met)
c.1481G>T (p.Arg494Met)
1g.77942700G>ACA919004NEXNc.1899G>A (p.Arg633=)
c.1707G>A (p.Arg569=)
c.1598G>A
n.738G>A
n.1473G>A
c.1857G>A (p.Arg619=)
c.1677G>A (p.Arg559=)
c.1665G>A (p.Arg555=)
c.1482G>A (p.Arg494=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942700G>CCA340883145NEXNc.1899G>C (p.Arg633Ser)
c.1707G>C (p.Arg569Ser)
c.1598G>C
n.738G>C
n.1473G>C
c.1857G>C (p.Arg619Ser)
c.1677G>C (p.Arg559Ser)
c.1665G>C (p.Arg555Ser)
c.1482G>C (p.Arg494Ser)
1g.77942700G=CA1143996532NEXNc.1899G= (p.Arg633=)
c.1707G= (p.Arg569=)
c.1598G=
n.738G=
n.1473G=
c.1857G= (p.Arg619=)
c.1677G= (p.Arg559=)
c.1665G= (p.Arg555=)
c.1482G= (p.Arg494=)
1g.77942700G>TCA340883146NEXNc.1899G>T (p.Arg633Ser)
c.1707G>T (p.Arg569Ser)
c.1598G>T
n.738G>T
n.1473G>T
c.1857G>T (p.Arg619Ser)
c.1677G>T (p.Arg559Ser)
c.1665G>T (p.Arg555Ser)
c.1482G>T (p.Arg494Ser)
1g.77942701G>ACA340883147NEXNc.1900G>A (p.Gly634Arg)
c.1708G>A (p.Gly570Arg)
c.1599G>A
n.739G>A
n.1474G>A
c.1858G>A (p.Gly620Arg)
c.1678G>A (p.Gly560Arg)
c.1666G>A (p.Gly556Arg)
c.1483G>A (p.Gly495Arg)
gnomAD v4
1g.77942701G>CCA340883148NEXNc.1900G>C (p.Gly634Arg)
c.1708G>C (p.Gly570Arg)
c.1599G>C
n.739G>C
n.1474G>C
c.1858G>C (p.Gly620Arg)
c.1678G>C (p.Gly560Arg)
c.1666G>C (p.Gly556Arg)
c.1483G>C (p.Gly495Arg)
1g.77942701G>TCA340883149NEXNc.1900G>T (p.Gly634Ter)
c.1708G>T (p.Gly570Ter)
c.1599G>T
n.739G>T
n.1474G>T
c.1858G>T (p.Gly620Ter)
c.1678G>T (p.Gly560Ter)
c.1666G>T (p.Gly556Ter)
c.1483G>T (p.Gly495Ter)
1g.77942701_77942705delinsGGAGACA1177631443NEXNc.1900_1904delinsGGAGA (p.Gly634=)
c.1708_1712delinsGGAGA (p.Gly570=)
c.1599_1603delinsGGAGA
n.739_743delinsGGAGA
n.1474_1478delinsGGAGA
c.1858_1862delinsGGAGA (p.Gly620=)
c.1678_1682delinsGGAGA (p.Gly560=)
c.1666_1670delinsGGAGA (p.Gly556=)
c.1483_1487delinsGGAGA (p.Gly495=)
1g.77942702G>ACA340883150NEXNc.1901G>A (p.Gly634Glu)
c.1709G>A (p.Gly570Glu)
c.1600G>A
n.740G>A
n.1475G>A
c.1859G>A (p.Gly620Glu)
c.1679G>A (p.Gly560Glu)
c.1667G>A (p.Gly556Glu)
c.1484G>A (p.Gly495Glu)
1g.77942702G>CCA340883151NEXNc.1901G>C (p.Gly634Ala)
c.1709G>C (p.Gly570Ala)
c.1600G>C
n.740G>C
n.1475G>C
c.1859G>C (p.Gly620Ala)
c.1679G>C (p.Gly560Ala)
c.1667G>C (p.Gly556Ala)
c.1484G>C (p.Gly495Ala)
1g.77942702G>TCA340883152NEXNc.1901G>T (p.Gly634Val)
c.1709G>T (p.Gly570Val)
c.1600G>T
n.740G>T
n.1475G>T
c.1859G>T (p.Gly620Val)
c.1679G>T (p.Gly560Val)
c.1667G>T (p.Gly556Val)
c.1484G>T (p.Gly495Val)
1g.77942702_77942705delinsTCTCA658795480NEXNc.1901_1904delinsTCT (p.Gly634ValfsTer2)
c.1709_1712delinsTCT (p.Gly570ValfsTer2)
c.1600_1603delinsTCT
n.740_743delinsTCT
n.1475_1478delinsTCT
c.1859_1862delinsTCT (p.Gly620ValfsTer2)
c.1679_1682delinsTCT (p.Gly560ValfsTer2)
c.1667_1670delinsTCT (p.Gly556ValfsTer2)
c.1484_1487delinsTCT (p.Gly495ValfsTer2)
ClinVar dbSNP
1g.77942703A=CA1177631444NEXNc.1902A= (p.Gly634=)
c.1710A= (p.Gly570=)
c.1601A=
n.741A=
n.1476A=
c.1860A= (p.Gly620=)
c.1680A= (p.Gly560=)
c.1668A= (p.Gly556=)
c.1485A= (p.Gly495=)
1g.77942703A>CCA418709741NEXNc.1902A>C (p.Gly634=)
c.1710A>C (p.Gly570=)
c.1601A>C
n.741A>C
n.1476A>C
c.1860A>C (p.Gly620=)
c.1680A>C (p.Gly560=)
c.1668A>C (p.Gly556=)
c.1485A>C (p.Gly495=)
1g.77942703A>GCA418709742NEXNc.1902A>G (p.Gly634=)
c.1710A>G (p.Gly570=)
c.1601A>G
n.741A>G
n.1476A>G
c.1860A>G (p.Gly620=)
c.1680A>G (p.Gly560=)
c.1668A>G (p.Gly556=)
c.1485A>G (p.Gly495=)
dbSNP gnomAD v2 gnomAD v4
1g.77942703A>TCA418709743NEXNc.1902A>T (p.Gly634=)
c.1710A>T (p.Gly570=)
c.1601A>T
n.741A>T
n.1476A>T
c.1860A>T (p.Gly620=)
c.1680A>T (p.Gly560=)
c.1668A>T (p.Gly556=)
c.1485A>T (p.Gly495=)
1g.77942704G>ACA340883153NEXNc.1903G>A (p.Glu635Lys)
c.1711G>A (p.Glu571Lys)
c.1602G>A
n.742G>A
n.1477G>A
c.1861G>A (p.Glu621Lys)
c.1681G>A (p.Glu561Lys)
c.1669G>A (p.Glu557Lys)
c.1486G>A (p.Glu496Lys)
gnomAD v4
1g.77942704G>CCA340883154NEXNc.1903G>C (p.Glu635Gln)
c.1711G>C (p.Glu571Gln)
c.1602G>C
n.742G>C
n.1477G>C
c.1861G>C (p.Glu621Gln)
c.1681G>C (p.Glu561Gln)
c.1669G>C (p.Glu557Gln)
c.1486G>C (p.Glu496Gln)
1g.77942704G>TCA340883155NEXNc.1903G>T (p.Glu635Ter)
c.1711G>T (p.Glu571Ter)
c.1602G>T
n.742G>T
n.1477G>T
c.1861G>T (p.Glu621Ter)
c.1681G>T (p.Glu561Ter)
c.1669G>T (p.Glu557Ter)
c.1486G>T (p.Glu496Ter)
1g.77942705A>CCA340883158NEXNc.1904A>C (p.Glu635Ala)
c.1712A>C (p.Glu571Ala)
c.1603A>C
n.743A>C
n.1478A>C
c.1862A>C (p.Glu621Ala)
c.1682A>C (p.Glu561Ala)
c.1670A>C (p.Glu557Ala)
c.1487A>C (p.Glu496Ala)
1g.77942705A>GCA340883156NEXNc.1904A>G (p.Glu635Gly)
c.1712A>G (p.Glu571Gly)
c.1603A>G
n.743A>G
n.1478A>G
c.1862A>G (p.Glu621Gly)
c.1682A>G (p.Glu561Gly)
c.1670A>G (p.Glu557Gly)
c.1487A>G (p.Glu496Gly)
1g.77942705A>TCA340883157NEXNc.1904A>T (p.Glu635Val)
c.1712A>T (p.Glu571Val)
c.1603A>T
n.743A>T
n.1478A>T
c.1862A>T (p.Glu621Val)
c.1682A>T (p.Glu561Val)
c.1670A>T (p.Glu557Val)
c.1487A>T (p.Glu496Val)
1g.77942706A>CCA340883159NEXNc.1905A>C (p.Glu635Asp)
c.1713A>C (p.Glu571Asp)
c.1604A>C
n.744A>C
n.1479A>C
c.1863A>C (p.Glu621Asp)
c.1683A>C (p.Glu561Asp)
c.1671A>C (p.Glu557Asp)
c.1488A>C (p.Glu496Asp)
COSMIC COSMIC
1g.77942706A>GCA418709745NEXNc.1905A>G (p.Glu635=)
c.1713A>G (p.Glu571=)
c.1604A>G
n.744A>G
n.1479A>G
c.1863A>G (p.Glu621=)
c.1683A>G (p.Glu561=)
c.1671A>G (p.Glu557=)
c.1488A>G (p.Glu496=)
gnomAD v4
1g.77942706A>TCA340883160NEXNc.1905A>T (p.Glu635Asp)
c.1713A>T (p.Glu571Asp)
c.1604A>T
n.744A>T
n.1479A>T
c.1863A>T (p.Glu621Asp)
c.1683A>T (p.Glu561Asp)
c.1671A>T (p.Glu557Asp)
c.1488A>T (p.Glu496Asp)
1g.77942706_77942710delinsAACTTCA1177631445NEXNc.1905_1909delinsAACTT (p.Glu635=)
c.1713_1717delinsAACTT (p.Glu571=)
c.1604_1608delinsAACTT
n.744_748delinsAACTT
n.1479_1483delinsAACTT
c.1863_1867delinsAACTT (p.Glu621=)
c.1683_1687delinsAACTT (p.Glu561=)
c.1671_1675delinsAACTT (p.Glu557=)
c.1488_1492delinsAACTT (p.Glu496=)
1g.77942707A=CA1177631446NEXNc.1906A= (p.Thr636=)
c.1714A= (p.Thr572=)
c.1605A=
n.745A=
n.1480A=
c.1864A= (p.Thr622=)
c.1684A= (p.Thr562=)
c.1672A= (p.Thr558=)
c.1489A= (p.Thr497=)
1g.77942707A>CCA340883161NEXNc.1906A>C (p.Thr636Pro)
c.1714A>C (p.Thr572Pro)
c.1605A>C
n.745A>C
n.1480A>C
c.1864A>C (p.Thr622Pro)
c.1684A>C (p.Thr562Pro)
c.1672A>C (p.Thr558Pro)
c.1489A>C (p.Thr497Pro)
1g.77942707A>GCA340883162NEXNc.1906A>G (p.Thr636Ala)
c.1714A>G (p.Thr572Ala)
c.1605A>G
n.745A>G
n.1480A>G
c.1864A>G (p.Thr622Ala)
c.1684A>G (p.Thr562Ala)
c.1672A>G (p.Thr558Ala)
c.1489A>G (p.Thr497Ala)
1g.77942707A>TCA919006NEXNc.1906A>T (p.Thr636Ser)
c.1714A>T (p.Thr572Ser)
c.1605A>T
n.745A>T
n.1480A>T
c.1864A>T (p.Thr622Ser)
c.1684A>T (p.Thr562Ser)
c.1672A>T (p.Thr558Ser)
c.1489A>T (p.Thr497Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.77942710_77942713delCA919005NEXNc.1909_1912del (p.Tyr637AlafsTer?)
c.1717_1720del (p.Tyr573AlafsTer?)
c.1608_1611del
n.748_751del
n.1483_1486del
c.1867_1870del (p.Tyr623AlafsTer?)
c.1687_1690del (p.Tyr563AlafsTer?)
c.1675_1678del (p.Tyr559AlafsTer?)
c.1492_1495del (p.Tyr498AlafsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942708C>ACA340883163NEXNc.1907C>A (p.Thr636Asn)
c.1715C>A (p.Thr572Asn)
c.1606C>A
n.746C>A
n.1481C>A
c.1865C>A (p.Thr622Asn)
c.1685C>A (p.Thr562Asn)
c.1673C>A (p.Thr558Asn)
c.1490C>A (p.Thr497Asn)
1g.77942708C>GCA340883164NEXNc.1907C>G (p.Thr636Ser)
c.1715C>G (p.Thr572Ser)
c.1606C>G
n.746C>G
n.1481C>G
c.1865C>G (p.Thr622Ser)
c.1685C>G (p.Thr562Ser)
c.1673C>G (p.Thr558Ser)
c.1490C>G (p.Thr497Ser)
1g.77942708C>TCA340883165NEXNc.1907C>T (p.Thr636Ile)
c.1715C>T (p.Thr572Ile)
c.1606C>T
n.746C>T
n.1481C>T
c.1865C>T (p.Thr622Ile)
c.1685C>T (p.Thr562Ile)
c.1673C>T (p.Thr558Ile)
c.1490C>T (p.Thr497Ile)
1g.77942709T>ACA418709749NEXNc.1908T>A (p.Thr636=)
c.1716T>A (p.Thr572=)
c.1607T>A
n.747T>A
n.1482T>A
c.1866T>A (p.Thr622=)
c.1686T>A (p.Thr562=)
c.1674T>A (p.Thr558=)
c.1491T>A (p.Thr497=)
1g.77942709T>CCA418709750NEXNc.1908T>C (p.Thr636=)
c.1716T>C (p.Thr572=)
c.1607T>C
n.747T>C
n.1482T>C
c.1866T>C (p.Thr622=)
c.1686T>C (p.Thr562=)
c.1674T>C (p.Thr558=)
c.1491T>C (p.Thr497=)
1g.77942709T>GCA418709751NEXNc.1908T>G (p.Thr636=)
c.1716T>G (p.Thr572=)
c.1607T>G
n.747T>G
n.1482T>G
c.1866T>G (p.Thr622=)
c.1686T>G (p.Thr562=)
c.1674T>G (p.Thr558=)
c.1491T>G (p.Thr497=)
gnomAD v4
1g.77942710T>ACA340883166NEXNc.1909T>A (p.Tyr637Asn)
c.1717T>A (p.Tyr573Asn)
c.1608T>A
n.748T>A
n.1483T>A
c.1867T>A (p.Tyr623Asn)
c.1687T>A (p.Tyr563Asn)
c.1675T>A (p.Tyr559Asn)
c.1492T>A (p.Tyr498Asn)
1g.77942710T>CCA340883167NEXNc.1909T>C (p.Tyr637His)
c.1717T>C (p.Tyr573His)
c.1608T>C
n.748T>C
n.1483T>C
c.1867T>C (p.Tyr623His)
c.1687T>C (p.Tyr563His)
c.1675T>C (p.Tyr559His)
c.1492T>C (p.Tyr498His)
1g.77942710T>GCA340883168NEXNc.1909T>G (p.Tyr637Asp)
c.1717T>G (p.Tyr573Asp)
c.1608T>G
n.748T>G
n.1483T>G
c.1867T>G (p.Tyr623Asp)
c.1687T>G (p.Tyr563Asp)
c.1675T>G (p.Tyr559Asp)
c.1492T>G (p.Tyr498Asp)
1g.77942711A>CCA340883170NEXNc.1910A>C (p.Tyr637Ser)
c.1718A>C (p.Tyr573Ser)
c.1609A>C
n.749A>C
n.1484A>C
c.1868A>C (p.Tyr623Ser)
c.1688A>C (p.Tyr563Ser)
c.1676A>C (p.Tyr559Ser)
c.1493A>C (p.Tyr498Ser)
1g.77942711A>GCA340883171NEXNc.1910A>G (p.Tyr637Cys)
c.1718A>G (p.Tyr573Cys)
c.1609A>G
n.749A>G
n.1484A>G
c.1868A>G (p.Tyr623Cys)
c.1688A>G (p.Tyr563Cys)
c.1676A>G (p.Tyr559Cys)
c.1493A>G (p.Tyr498Cys)
1g.77942711A>TCA340883169NEXNc.1910A>T (p.Tyr637Phe)
c.1718A>T (p.Tyr573Phe)
c.1609A>T
n.749A>T
n.1484A>T
c.1868A>T (p.Tyr623Phe)
c.1688A>T (p.Tyr563Phe)
c.1676A>T (p.Tyr559Phe)
c.1493A>T (p.Tyr498Phe)
1g.77942712C>ACA335439NEXNc.1911C>A (p.Tyr637Ter)
c.1719C>A (p.Tyr573Ter)
c.1610C>A
n.750C>A
n.1485C>A
c.1869C>A (p.Tyr623Ter)
c.1689C>A (p.Tyr563Ter)
c.1677C>A (p.Tyr559Ter)
c.1494C>A (p.Tyr498Ter)
ClinVar dbSNP
1g.77942712C=CA1177631447NEXNc.1911C= (p.Tyr637=)
c.1719C= (p.Tyr573=)
c.1610C=
n.750C=
n.1485C=
c.1869C= (p.Tyr623=)
c.1689C= (p.Tyr563=)
c.1677C= (p.Tyr559=)
c.1494C= (p.Tyr498=)
1g.77942712C>GCA340883172NEXNc.1911C>G (p.Tyr637Ter)
c.1719C>G (p.Tyr573Ter)
c.1610C>G
n.750C>G
n.1485C>G
c.1869C>G (p.Tyr623Ter)
c.1689C>G (p.Tyr563Ter)
c.1677C>G (p.Tyr559Ter)
c.1494C>G (p.Tyr498Ter)
1g.77942712C>TCA919007NEXNc.1911C>T (p.Tyr637=)
c.1719C>T (p.Tyr573=)
c.1610C>T
n.750C>T
n.1485C>T
c.1869C>T (p.Tyr623=)
c.1689C>T (p.Tyr563=)
c.1677C>T (p.Tyr559=)
c.1494C>T (p.Tyr498=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.77942713T>ACA340883173NEXNc.1912T>A (p.Cys638Ser)
c.1720T>A (p.Cys574Ser)
c.1611T>A
n.751T>A
n.1486T>A
c.1870T>A (p.Cys624Ser)
c.1690T>A (p.Cys564Ser)
c.1678T>A (p.Cys560Ser)
c.1495T>A (p.Cys499Ser)
1g.77942713T>CCA340883174NEXNc.1912T>C (p.Cys638Arg)
c.1720T>C (p.Cys574Arg)
c.1611T>C
n.751T>C
n.1486T>C
c.1870T>C (p.Cys624Arg)
c.1690T>C (p.Cys564Arg)
c.1678T>C (p.Cys560Arg)
c.1495T>C (p.Cys499Arg)
1g.77942713T>GCA340883175NEXNc.1912T>G (p.Cys638Gly)
c.1720T>G (p.Cys574Gly)
c.1611T>G
n.751T>G
n.1486T>G
c.1870T>G (p.Cys624Gly)
c.1690T>G (p.Cys564Gly)
c.1678T>G (p.Cys560Gly)
c.1495T>G (p.Cys499Gly)
1g.77942714G>ACA340883176NEXNc.1913G>A (p.Cys638Tyr)
c.1721G>A (p.Cys574Tyr)
c.1612G>A
n.752G>A
n.1487G>A
c.1871G>A (p.Cys624Tyr)
c.1691G>A (p.Cys564Tyr)
c.1679G>A (p.Cys560Tyr)
c.1496G>A (p.Cys499Tyr)
1g.77942714G>CCA340883177NEXNc.1913G>C (p.Cys638Ser)
c.1721G>C (p.Cys574Ser)
c.1612G>C
n.752G>C
n.1487G>C
c.1871G>C (p.Cys624Ser)
c.1691G>C (p.Cys564Ser)
c.1679G>C (p.Cys560Ser)
c.1496G>C (p.Cys499Ser)
1g.77942714G>TCA340883178NEXNc.1913G>T (p.Cys638Phe)
c.1721G>T (p.Cys574Phe)
c.1612G>T
n.752G>T
n.1487G>T
c.1871G>T (p.Cys624Phe)
c.1691G>T (p.Cys564Phe)
c.1679G>T (p.Cys560Phe)
c.1496G>T (p.Cys499Phe)
1g.77942715C>ACA340883179NEXNc.1914C>A (p.Cys638Ter)
c.1722C>A (p.Cys574Ter)
c.1613C>A
n.753C>A
n.1488C>A
c.1872C>A (p.Cys624Ter)
c.1692C>A (p.Cys564Ter)
c.1680C>A (p.Cys560Ter)
c.1497C>A (p.Cys499Ter)
1g.77942715C>GCA340883180NEXNc.1914C>G (p.Cys638Trp)
c.1722C>G (p.Cys574Trp)
c.1613C>G
n.753C>G
n.1488C>G
c.1872C>G (p.Cys624Trp)
c.1692C>G (p.Cys564Trp)
c.1680C>G (p.Cys560Trp)
c.1497C>G (p.Cys499Trp)
1g.77942715C>TCA418709758NEXNc.1914C>T (p.Cys638=)
c.1722C>T (p.Cys574=)
c.1613C>T
n.753C>T
n.1488C>T
c.1872C>T (p.Cys624=)
c.1692C>T (p.Cys564=)
c.1680C>T (p.Cys560=)
c.1497C>T (p.Cys499=)
1g.77942716delCA2646275683NEXNc.1915del (p.Leu639PhefsTer?)
c.1723del (p.Leu575PhefsTer?)
c.1614del
n.754del
n.1489del
c.1873del (p.Leu625PhefsTer?)
c.1693del (p.Leu565PhefsTer?)
c.1681del (p.Leu561PhefsTer?)
c.1498del (p.Leu500PhefsTer?)
gnomAD v4
1g.77942715_77942720delinsCCTTTACA1177631448NEXNc.1914_1919delinsCCTTTA (p.Cys638=)
c.1722_1727delinsCCTTTA (p.Cys574=)
c.1613_1618delinsCCTTTA
n.753_758delinsCCTTTA
n.1488_1493delinsCCTTTA
c.1872_1877delinsCCTTTA (p.Cys624=)
c.1692_1697delinsCCTTTA (p.Cys564=)
c.1680_1685delinsCCTTTA (p.Cys560=)
c.1497_1502delinsCCTTTA (p.Cys499=)
1g.77942716C>ACA340883181NEXNc.1915C>A (p.Leu639Ile)
c.1723C>A (p.Leu575Ile)
c.1614C>A
n.754C>A
n.1489C>A
c.1873C>A (p.Leu625Ile)
c.1693C>A (p.Leu565Ile)
c.1681C>A (p.Leu561Ile)
c.1498C>A (p.Leu500Ile)
1g.77942716C>GCA340883182NEXNc.1915C>G (p.Leu639Val)
c.1723C>G (p.Leu575Val)
c.1614C>G
n.754C>G
n.1489C>G
c.1873C>G (p.Leu625Val)
c.1693C>G (p.Leu565Val)
c.1681C>G (p.Leu561Val)
c.1498C>G (p.Leu500Val)
1g.77942716C>TCA340883183NEXNc.1915C>T (p.Leu639Phe)
c.1723C>T (p.Leu575Phe)
c.1614C>T
n.754C>T
n.1489C>T
c.1873C>T (p.Leu625Phe)
c.1693C>T (p.Leu565Phe)
c.1681C>T (p.Leu561Phe)
c.1498C>T (p.Leu500Phe)
1g.77942719_77942723delCA658656943NEXNc.1918_1922del (p.Tyr640ThrfsTer14)
c.1726_1730del (p.Tyr576ThrfsTer14)
c.1617_1621del
n.757_761del
n.1492_1496del
c.1876_1880del (p.Tyr626ThrfsTer14)
c.1696_1700del (p.Tyr566ThrfsTer14)
c.1684_1688del (p.Tyr562ThrfsTer14)
c.1501_1505del (p.Tyr501ThrfsTer14)
ClinVar dbSNP gnomAD v4
1g.77942717T>ACA340883186NEXNc.1916T>A (p.Leu639His)
c.1724T>A (p.Leu575His)
c.1615T>A
n.755T>A
n.1490T>A
c.1874T>A (p.Leu625His)
c.1694T>A (p.Leu565His)
c.1682T>A (p.Leu561His)
c.1499T>A (p.Leu500His)
1g.77942717T>CCA340883184NEXNc.1916T>C (p.Leu639Pro)
c.1724T>C (p.Leu575Pro)
c.1615T>C
n.755T>C
n.1490T>C
c.1874T>C (p.Leu625Pro)
c.1694T>C (p.Leu565Pro)
c.1682T>C (p.Leu561Pro)
c.1499T>C (p.Leu500Pro)
dbSNP gnomAD v3 gnomAD v4
1g.77942717T>GCA340883185NEXNc.1916T>G (p.Leu639Arg)
c.1724T>G (p.Leu575Arg)
c.1615T>G
n.755T>G
n.1490T>G
c.1874T>G (p.Leu625Arg)
c.1694T>G (p.Leu565Arg)
c.1682T>G (p.Leu561Arg)
c.1499T>G (p.Leu500Arg)
1g.77942717T=CA1177631449NEXNc.1916T= (p.Leu639=)
c.1724T= (p.Leu575=)
c.1615T=
n.755T=
n.1490T=
c.1874T= (p.Leu625=)
c.1694T= (p.Leu565=)
c.1682T= (p.Leu561=)
c.1499T= (p.Leu500=)
1g.77942718T>ACA418709760NEXNc.1917T>A (p.Leu639=)
c.1725T>A (p.Leu575=)
c.1616T>A
n.756T>A
n.1491T>A
c.1875T>A (p.Leu625=)
c.1695T>A (p.Leu565=)
c.1683T>A (p.Leu561=)
c.1500T>A (p.Leu500=)
1g.77942718T>CCA418709762NEXNc.1917T>C (p.Leu639=)
c.1725T>C (p.Leu575=)
c.1616T>C
n.756T>C
n.1491T>C
c.1875T>C (p.Leu625=)
c.1695T>C (p.Leu565=)
c.1683T>C (p.Leu561=)
c.1500T>C (p.Leu500=)
dbSNP gnomAD v2 gnomAD v4
1g.77942718T>GCA418709763NEXNc.1917T>G (p.Leu639=)
c.1725T>G (p.Leu575=)
c.1616T>G
n.756T>G
n.1491T>G
c.1875T>G (p.Leu625=)
c.1695T>G (p.Leu565=)
c.1683T>G (p.Leu561=)
c.1500T>G (p.Leu500=)
1g.77942718T=CA1177631450NEXNc.1917T= (p.Leu639=)
c.1725T= (p.Leu575=)
c.1616T=
n.756T=
n.1491T=
c.1875T= (p.Leu625=)
c.1695T= (p.Leu565=)
c.1683T= (p.Leu561=)
c.1500T= (p.Leu500=)
1g.77942719T>ACA340883187NEXNc.1918T>A (p.Tyr640Asn)
c.1726T>A (p.Tyr576Asn)
c.1617T>A
n.757T>A
n.1492T>A
c.1876T>A (p.Tyr626Asn)
c.1696T>A (p.Tyr566Asn)
c.1684T>A (p.Tyr562Asn)
c.1501T>A (p.Tyr501Asn)
1g.77942719T>CCA340883188NEXNc.1918T>C (p.Tyr640His)
c.1726T>C (p.Tyr576His)
c.1617T>C
n.757T>C
n.1492T>C
c.1876T>C (p.Tyr626His)
c.1696T>C (p.Tyr566His)
c.1684T>C (p.Tyr562His)
c.1501T>C (p.Tyr501His)
1g.77942719T>GCA340883189NEXNc.1918T>G (p.Tyr640Asp)
c.1726T>G (p.Tyr576Asp)
c.1617T>G
n.757T>G
n.1492T>G
c.1876T>G (p.Tyr626Asp)
c.1696T>G (p.Tyr566Asp)
c.1684T>G (p.Tyr562Asp)
c.1501T>G (p.Tyr501Asp)
1g.77942720A>CCA340883190NEXNc.1919A>C (p.Tyr640Ser)
c.1727A>C (p.Tyr576Ser)
c.1618A>C
n.758A>C
n.1493A>C
c.1877A>C (p.Tyr626Ser)
c.1697A>C (p.Tyr566Ser)
c.1685A>C (p.Tyr562Ser)
c.1502A>C (p.Tyr501Ser)
1g.77942720A>GCA340883191NEXNc.1919A>G (p.Tyr640Cys)
c.1727A>G (p.Tyr576Cys)
c.1618A>G
n.758A>G
n.1493A>G
c.1877A>G (p.Tyr626Cys)
c.1697A>G (p.Tyr566Cys)
c.1685A>G (p.Tyr562Cys)
c.1502A>G (p.Tyr501Cys)
COSMIC COSMIC
1g.77942720A>TCA340883192NEXNc.1919A>T (p.Tyr640Phe)
c.1727A>T (p.Tyr576Phe)
c.1618A>T
n.758A>T
n.1493A>T
c.1877A>T (p.Tyr626Phe)
c.1697A>T (p.Tyr566Phe)
c.1685A>T (p.Tyr562Phe)
c.1502A>T (p.Tyr501Phe)
1g.77942721C>ACA340883193NEXNc.1920C>A (p.Tyr640Ter)
c.1728C>A (p.Tyr576Ter)
c.1619C>A
n.759C>A
n.1494C>A
c.1878C>A (p.Tyr626Ter)
c.1698C>A (p.Tyr566Ter)
c.1686C>A (p.Tyr562Ter)
c.1503C>A (p.Tyr501Ter)
1g.77942721C>GCA340883194NEXNc.1920C>G (p.Tyr640Ter)
c.1728C>G (p.Tyr576Ter)
c.1619C>G
n.759C>G
n.1494C>G
c.1878C>G (p.Tyr626Ter)
c.1698C>G (p.Tyr566Ter)
c.1686C>G (p.Tyr562Ter)
c.1503C>G (p.Tyr501Ter)
1g.77942721C>TCA418709765NEXNc.1920C>T (p.Tyr640=)
c.1728C>T (p.Tyr576=)
c.1619C>T
n.759C>T
n.1494C>T
c.1878C>T (p.Tyr626=)
c.1698C>T (p.Tyr566=)
c.1686C>T (p.Tyr562=)
c.1503C>T (p.Tyr501=)
1g.77942722T>ACA340883195NEXNc.1921T>A (p.Leu641Ile)
c.1729T>A (p.Leu577Ile)
c.1620T>A
n.760T>A
n.1495T>A
c.1879T>A (p.Leu627Ile)
c.1699T>A (p.Leu567Ile)
c.1687T>A (p.Leu563Ile)
c.1504T>A (p.Leu502Ile)
1g.77942722T>CCA418709767NEXNc.1921T>C (p.Leu641=)
c.1729T>C (p.Leu577=)
c.1620T>C
n.760T>C
n.1495T>C
c.1879T>C (p.Leu627=)
c.1699T>C (p.Leu567=)
c.1687T>C (p.Leu563=)
c.1504T>C (p.Leu502=)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.77942722T>GCA340883196NEXNc.1921T>G (p.Leu641Val)
c.1729T>G (p.Leu577Val)
c.1620T>G
n.760T>G
n.1495T>G
c.1879T>G (p.Leu627Val)
c.1699T>G (p.Leu567Val)
c.1687T>G (p.Leu563Val)
c.1504T>G (p.Leu502Val)
gnomAD v4
1g.77942722T=CA1177631451NEXNc.1921T= (p.Leu641=)
c.1729T= (p.Leu577=)
c.1620T=
n.760T=
n.1495T=
c.1879T= (p.Leu627=)
c.1699T= (p.Leu567=)
c.1687T= (p.Leu563=)
c.1504T= (p.Leu502=)
1g.77942723T>ACA340883197NEXNc.1922T>A (p.Leu641Ter)
c.1730T>A (p.Leu577Ter)
c.1621T>A
n.761T>A
n.1496T>A
c.1880T>A (p.Leu627Ter)
c.1700T>A (p.Leu567Ter)
c.1688T>A (p.Leu563Ter)
c.1505T>A (p.Leu502Ter)
1g.77942723T>CCA919008NEXNc.1922T>C (p.Leu641Ser)
c.1730T>C (p.Leu577Ser)
c.1621T>C
n.761T>C
n.1496T>C
c.1880T>C (p.Leu627Ser)
c.1700T>C (p.Leu567Ser)
c.1688T>C (p.Leu563Ser)
c.1505T>C (p.Leu502Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77942723T>GCA340883198NEXNc.1922T>G (p.Leu641Ter)
c.1730T>G (p.Leu577Ter)
c.1621T>G
n.761T>G
n.1496T>G
c.1880T>G (p.Leu627Ter)
c.1700T>G (p.Leu567Ter)
c.1688T>G (p.Leu563Ter)
c.1505T>G (p.Leu502Ter)
ClinVar
1g.77942723T=CA1177631452NEXNc.1922T= (p.Leu641=)
c.1730T= (p.Leu577=)
c.1621T=
n.761T=
n.1496T=
c.1880T= (p.Leu627=)
c.1700T= (p.Leu567=)
c.1688T= (p.Leu563=)
c.1505T= (p.Leu502=)
1g.77942724A>CCA340883199NEXNc.1923A>C (p.Leu641Phe)
c.1731A>C (p.Leu577Phe)
c.1622A>C
n.762A>C
n.1497A>C
c.1881A>C (p.Leu627Phe)
c.1701A>C (p.Leu567Phe)
c.1689A>C (p.Leu563Phe)
c.1506A>C (p.Leu502Phe)
1g.77942724A>GCA418709771NEXNc.1923A>G (p.Leu641=)
c.1731A>G (p.Leu577=)
c.1622A>G
n.762A>G
n.1497A>G
c.1881A>G (p.Leu627=)
c.1701A>G (p.Leu567=)
c.1689A>G (p.Leu563=)
c.1506A>G (p.Leu502=)
1g.77942724A>TCA340883200NEXNc.1923A>T (p.Leu641Phe)
c.1731A>T (p.Leu577Phe)
c.1622A>T
n.762A>T
n.1497A>T
c.1881A>T (p.Leu627Phe)
c.1701A>T (p.Leu567Phe)
c.1689A>T (p.Leu563Phe)
c.1506A>T (p.Leu502Phe)
1g.77942725C>ACA340883201NEXNc.1924C>A (p.Pro642Thr)
c.1732C>A (p.Pro578Thr)
c.1623C>A
n.763C>A
n.1498C>A
c.1882C>A (p.Pro628Thr)
c.1702C>A (p.Pro568Thr)
c.1690C>A (p.Pro564Thr)
c.1507C>A (p.Pro503Thr)
dbSNP gnomAD v3 gnomAD v4
1g.77942725C=CA1177631453NEXNc.1924C= (p.Pro642=)
c.1732C= (p.Pro578=)
c.1623C=
n.763C=
n.1498C=
c.1882C= (p.Pro628=)
c.1702C= (p.Pro568=)
c.1690C= (p.Pro564=)
c.1507C= (p.Pro503=)
1g.77942725C>GCA340883202NEXNc.1924C>G (p.Pro642Ala)
c.1732C>G (p.Pro578Ala)
c.1623C>G
n.763C>G
n.1498C>G
c.1882C>G (p.Pro628Ala)
c.1702C>G (p.Pro568Ala)
c.1690C>G (p.Pro564Ala)
c.1507C>G (p.Pro503Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.77942725C>TCA340883203NEXNc.1924C>T (p.Pro642Ser)
c.1732C>T (p.Pro578Ser)
c.1623C>T
n.763C>T
n.1498C>T
c.1882C>T (p.Pro628Ser)
c.1702C>T (p.Pro568Ser)
c.1690C>T (p.Pro564Ser)
c.1507C>T (p.Pro503Ser)
dbSNP gnomAD v4
1g.77942726C>ACA340883204NEXNc.1925C>A (p.Pro642Gln)
c.1733C>A (p.Pro578Gln)
c.1624C>A
n.764C>A
n.1499C>A
c.1883C>A (p.Pro628Gln)
c.1703C>A (p.Pro568Gln)
c.1691C>A (p.Pro564Gln)
c.1508C>A (p.Pro503Gln)
gnomAD v4
1g.77942726C>GCA16622160NEXNc.1925C>G (p.Pro642Arg)
c.1733C>G (p.Pro578Arg)
c.1624C>G
n.764C>G
n.1499C>G
c.1883C>G (p.Pro628Arg)
c.1703C>G (p.Pro568Arg)
c.1691C>G (p.Pro564Arg)
c.1508C>G (p.Pro503Arg)
gnomAD v4
1g.77942726C>TCA340883205NEXNc.1925C>T (p.Pro642Leu)
c.1733C>T (p.Pro578Leu)
c.1624C>T
n.764C>T
n.1499C>T
c.1883C>T (p.Pro628Leu)
c.1703C>T (p.Pro568Leu)
c.1691C>T (p.Pro564Leu)
c.1508C>T (p.Pro503Leu)
1g.77942727A>CCA418709772NEXNc.1926A>C (p.Pro642=)
c.1734A>C (p.Pro578=)
c.1625A>C
n.765A>C
n.1500A>C
c.1884A>C (p.Pro628=)
c.1704A>C (p.Pro568=)
c.1692A>C (p.Pro564=)
c.1509A>C (p.Pro503=)
1g.77942727A>GCA418709776NEXNc.1926A>G (p.Pro642=)
c.1734A>G (p.Pro578=)
c.1625A>G
n.765A>G
n.1500A>G
c.1884A>G (p.Pro628=)
c.1704A>G (p.Pro568=)
c.1692A>G (p.Pro564=)
c.1509A>G (p.Pro503=)
1g.77942727A>TCA418709774NEXNc.1926A>T (p.Pro642=)
c.1734A>T (p.Pro578=)
c.1625A>T
n.765A>T
n.1500A>T
c.1884A>T (p.Pro628=)
c.1704A>T (p.Pro568=)
c.1692A>T (p.Pro564=)
c.1509A>T (p.Pro503=)
1g.77942728G>ACA340883208NEXNc.1927G>A (p.Glu643Lys)
c.1735G>A (p.Glu579Lys)
c.1626G>A
n.766G>A
n.1501G>A
c.1885G>A (p.Glu629Lys)
c.1705G>A (p.Glu569Lys)
c.1693G>A (p.Glu565Lys)
c.1510G>A (p.Glu504Lys)
1g.77942728G>CCA340883206NEXNc.1927G>C (p.Glu643Gln)
c.1735G>C (p.Glu579Gln)
c.1626G>C
n.766G>C
n.1501G>C
c.1885G>C (p.Glu629Gln)
c.1705G>C (p.Glu569Gln)
c.1693G>C (p.Glu565Gln)
c.1510G>C (p.Glu504Gln)
1g.77942728G>TCA340883207NEXNc.1927G>T (p.Glu643Ter)
c.1735G>T (p.Glu579Ter)
c.1626G>T
n.766G>T
n.1501G>T
c.1885G>T (p.Glu629Ter)
c.1705G>T (p.Glu569Ter)
c.1693G>T (p.Glu565Ter)
c.1510G>T (p.Glu504Ter)
1g.77942729A=CA1177631454NEXNc.1928A= (p.Glu643=)
c.1736A= (p.Glu579=)
c.1627A=
n.767A=
n.1502A=
c.1886A= (p.Glu629=)
c.1706A= (p.Glu569=)
c.1694A= (p.Glu565=)
c.1511A= (p.Glu504=)
1g.77942729A>CCA340883209NEXNc.1928A>C (p.Glu643Ala)
c.1736A>C (p.Glu579Ala)
c.1627A>C
n.767A>C
n.1502A>C
c.1886A>C (p.Glu629Ala)
c.1706A>C (p.Glu569Ala)
c.1694A>C (p.Glu565Ala)
c.1511A>C (p.Glu504Ala)
ClinVar dbSNP gnomAD v4
1g.77942729A>GCA340883210NEXNc.1928A>G (p.Glu643Gly)
c.1736A>G (p.Glu579Gly)
c.1627A>G
n.767A>G
n.1502A>G
c.1886A>G (p.Glu629Gly)
c.1706A>G (p.Glu569Gly)
c.1694A>G (p.Glu565Gly)
c.1511A>G (p.Glu504Gly)
1g.77942729A>TCA340883211NEXNc.1928A>T (p.Glu643Val)
c.1736A>T (p.Glu579Val)
c.1627A>T
n.767A>T
n.1502A>T
c.1886A>T (p.Glu629Val)
c.1706A>T (p.Glu569Val)
c.1694A>T (p.Glu565Val)
c.1511A>T (p.Glu504Val)
gnomAD v4
1g.77942731delCA2580063261NEXNc.1930del (p.Thr644LeufsTer?)
c.1738del (p.Thr580LeufsTer?)
c.1629del
n.769del
n.1504del
c.1888del (p.Thr630LeufsTer?)
c.1708del (p.Thr570LeufsTer?)
c.1696del (p.Thr566LeufsTer?)
c.1513del (p.Thr505LeufsTer?)
ClinVar
1g.77942730A>CCA340883212NEXNc.1929A>C (p.Glu643Asp)
c.1737A>C (p.Glu579Asp)
c.1628A>C
n.768A>C
n.1503A>C
c.1887A>C (p.Glu629Asp)
c.1707A>C (p.Glu569Asp)
c.1695A>C (p.Glu565Asp)
c.1512A>C (p.Glu504Asp)
gnomAD v4
1g.77942730A>GCA418709779NEXNc.1929A>G (p.Glu643=)
c.1737A>G (p.Glu579=)
c.1628A>G
n.768A>G
n.1503A>G
c.1887A>G (p.Glu629=)
c.1707A>G (p.Glu569=)
c.1695A>G (p.Glu565=)
c.1512A>G (p.Glu504=)
1g.77942730A>TCA340883213NEXNc.1929A>T (p.Glu643Asp)
c.1737A>T (p.Glu579Asp)
c.1628A>T
n.768A>T
n.1503A>T
c.1887A>T (p.Glu629Asp)
c.1707A>T (p.Glu569Asp)
c.1695A>T (p.Glu565Asp)
c.1512A>T (p.Glu504Asp)
1g.77942731A>CCA340883214NEXNc.1930A>C (p.Thr644Pro)
c.1738A>C (p.Thr580Pro)
c.1629A>C
n.769A>C
n.1504A>C
c.1888A>C (p.Thr630Pro)
c.1708A>C (p.Thr570Pro)
c.1696A>C (p.Thr566Pro)
c.1513A>C (p.Thr505Pro)
1g.77942731A>GCA340883216NEXNc.1930A>G (p.Thr644Ala)
c.1738A>G (p.Thr580Ala)
c.1629A>G
n.769A>G
n.1504A>G
c.1888A>G (p.Thr630Ala)
c.1708A>G (p.Thr570Ala)
c.1696A>G (p.Thr566Ala)
c.1513A>G (p.Thr505Ala)
gnomAD v4
1g.77942731A>TCA340883215NEXNc.1930A>T (p.Thr644Ser)
c.1738A>T (p.Thr580Ser)
c.1629A>T
n.769A>T
n.1504A>T
c.1888A>T (p.Thr630Ser)
c.1708A>T (p.Thr570Ser)
c.1696A>T (p.Thr566Ser)
c.1513A>T (p.Thr505Ser)
1g.77942732C>ACA340883217NEXNc.1931C>A (p.Thr644Asn)
c.1739C>A (p.Thr580Asn)
c.1630C>A
n.770C>A
n.1505C>A
c.1889C>A (p.Thr630Asn)
c.1709C>A (p.Thr570Asn)
c.1697C>A (p.Thr566Asn)
c.1514C>A (p.Thr505Asn)
1g.77942732C>GCA340883218NEXNc.1931C>G (p.Thr644Ser)
c.1739C>G (p.Thr580Ser)
c.1630C>G
n.770C>G
n.1505C>G
c.1889C>G (p.Thr630Ser)
c.1709C>G (p.Thr570Ser)
c.1697C>G (p.Thr566Ser)
c.1514C>G (p.Thr505Ser)
1g.77942732C>TCA340883219NEXNc.1931C>T (p.Thr644Ile)
c.1739C>T (p.Thr580Ile)
c.1630C>T
n.770C>T
n.1505C>T
c.1889C>T (p.Thr630Ile)
c.1709C>T (p.Thr570Ile)
c.1697C>T (p.Thr566Ile)
c.1514C>T (p.Thr505Ile)
1g.77942733T>ACA418709786NEXNc.1932T>A (p.Thr644=)
c.1740T>A (p.Thr580=)
c.1631T>A
n.771T>A
n.1506T>A
c.1890T>A (p.Thr630=)
c.1710T>A (p.Thr570=)
c.1698T>A (p.Thr566=)
c.1515T>A (p.Thr505=)
1g.77942733T>CCA418709787NEXNc.1932T>C (p.Thr644=)
c.1740T>C (p.Thr580=)
c.1631T>C
n.771T>C
n.1506T>C
c.1890T>C (p.Thr630=)
c.1710T>C (p.Thr570=)
c.1698T>C (p.Thr566=)
c.1515T>C (p.Thr505=)
dbSNP gnomAD v4
1g.77942733T>GCA418709788NEXNc.1932T>G (p.Thr644=)
c.1740T>G (p.Thr580=)
c.1631T>G
n.771T>G
n.1506T>G
c.1890T>G (p.Thr630=)
c.1710T>G (p.Thr570=)
c.1698T>G (p.Thr566=)
c.1515T>G (p.Thr505=)
1g.77942733T=CA1177631455NEXNc.1932T= (p.Thr644=)
c.1740T= (p.Thr580=)
c.1631T=
n.771T=
n.1506T=
c.1890T= (p.Thr630=)
c.1710T= (p.Thr570=)
c.1698T= (p.Thr566=)
c.1515T= (p.Thr505=)
1g.77942734T>ACA340883220NEXNc.1933T>A (p.Phe645Ile)
c.1741T>A (p.Phe581Ile)
c.1632T>A
n.772T>A
n.1507T>A
c.1891T>A (p.Phe631Ile)
c.1711T>A (p.Phe571Ile)
c.1699T>A (p.Phe567Ile)
c.1516T>A (p.Phe506Ile)
1g.77942734T>CCA340883221NEXNc.1933T>C (p.Phe645Leu)
c.1741T>C (p.Phe581Leu)
c.1632T>C
n.772T>C
n.1507T>C
c.1891T>C (p.Phe631Leu)
c.1711T>C (p.Phe571Leu)
c.1699T>C (p.Phe567Leu)
c.1516T>C (p.Phe506Leu)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.77942734T>GCA340883222NEXNc.1933T>G (p.Phe645Val)
c.1741T>G (p.Phe581Val)
c.1632T>G
n.772T>G
n.1507T>G
c.1891T>G (p.Phe631Val)
c.1711T>G (p.Phe571Val)
c.1699T>G (p.Phe567Val)
c.1516T>G (p.Phe506Val)
1g.77942734T=CA1177631456NEXNc.1933T= (p.Phe645=)
c.1741T= (p.Phe581=)
c.1632T=
n.772T=
n.1507T=
c.1891T= (p.Phe631=)
c.1711T= (p.Phe571=)
c.1699T= (p.Phe567=)
c.1516T= (p.Phe506=)
1g.77942735T>ACA340883223NEXNc.1934T>A (p.Phe645Tyr)
c.1742T>A (p.Phe581Tyr)
c.1633T>A
n.773T>A
n.1508T>A
c.1892T>A (p.Phe631Tyr)
c.1712T>A (p.Phe571Tyr)
c.1700T>A (p.Phe567Tyr)
c.1517T>A (p.Phe506Tyr)
1g.77942735T>CCA340883224NEXNc.1934T>C (p.Phe645Ser)
c.1742T>C (p.Phe581Ser)
c.1633T>C
n.773T>C
n.1508T>C
c.1892T>C (p.Phe631Ser)
c.1712T>C (p.Phe571Ser)
c.1700T>C (p.Phe567Ser)
c.1517T>C (p.Phe506Ser)
1g.77942735T>GCA340883225NEXNc.1934T>G (p.Phe645Cys)
c.1742T>G (p.Phe581Cys)
c.1633T>G
n.773T>G
n.1508T>G
c.1892T>G (p.Phe631Cys)
c.1712T>G (p.Phe571Cys)
c.1700T>G (p.Phe567Cys)
c.1517T>G (p.Phe506Cys)
1g.77942736C>ACA340883226NEXNc.1935C>A (p.Phe645Leu)
c.1743C>A (p.Phe581Leu)
c.1634C>A
n.774C>A
n.1509C>A
c.1893C>A (p.Phe631Leu)
c.1713C>A (p.Phe571Leu)
c.1701C>A (p.Phe567Leu)
c.1518C>A (p.Phe506Leu)
1g.77942736C=CA1177631457NEXNc.1935C= (p.Phe645=)
c.1743C= (p.Phe581=)
c.1634C=
n.774C=
n.1509C=
c.1893C= (p.Phe631=)
c.1713C= (p.Phe571=)
c.1701C= (p.Phe567=)
c.1518C= (p.Phe506=)
1g.77942736C>GCA335445NEXNc.1935C>G (p.Phe645Leu)
c.1743C>G (p.Phe581Leu)
c.1634C>G
n.774C>G
n.1509C>G
c.1893C>G (p.Phe631Leu)
c.1713C>G (p.Phe571Leu)
c.1701C>G (p.Phe567Leu)
c.1518C>G (p.Phe506Leu)
ClinVar dbSNP gnomAD v4
1g.77942736C>TCA418709792NEXNc.1935C>T (p.Phe645=)
c.1743C>T (p.Phe581=)
c.1634C>T
n.774C>T
n.1509C>T
c.1893C>T (p.Phe631=)
c.1713C>T (p.Phe571=)
c.1701C>T (p.Phe567=)
c.1518C>T (p.Phe506=)
gnomAD v4
1g.77942737C>ACA340883228NEXNc.1936C>A (p.Pro646Thr)
c.1744C>A (p.Pro582Thr)
c.1635C>A
n.775C>A
n.1510C>A
c.1894C>A (p.Pro632Thr)
c.1714C>A (p.Pro572Thr)
c.1702C>A (p.Pro568Thr)
c.1519C>A (p.Pro507Thr)
1g.77942737C=CA1177631458NEXNc.1936C= (p.Pro646=)
c.1744C= (p.Pro582=)
c.1635C=
n.775C=
n.1510C=
c.1894C= (p.Pro632=)
c.1714C= (p.Pro572=)
c.1702C= (p.Pro568=)
c.1519C= (p.Pro507=)
1g.77942737C>GCA919009NEXNc.1936C>G (p.Pro646Ala)
c.1744C>G (p.Pro582Ala)
c.1635C>G
n.775C>G
n.1510C>G
c.1894C>G (p.Pro632Ala)
c.1714C>G (p.Pro572Ala)
c.1702C>G (p.Pro568Ala)
c.1519C>G (p.Pro507Ala)
dbSNP ExAC gnomAD v2
1g.77942737C>TCA340883227NEXNc.1936C>T (p.Pro646Ser)
c.1744C>T (p.Pro582Ser)
c.1635C>T
n.775C>T
n.1510C>T
c.1894C>T (p.Pro632Ser)
c.1714C>T (p.Pro572Ser)
c.1702C>T (p.Pro568Ser)
c.1519C>T (p.Pro507Ser)
1g.77942738C>ACA142137NEXNc.1937C>A (p.Pro646Gln)
c.1745C>A (p.Pro582Gln)
c.1636C>A
n.776C>A
n.1511C>A
c.1895C>A (p.Pro632Gln)
c.1715C>A (p.Pro572Gln)
c.1703C>A (p.Pro568Gln)
c.1520C>A (p.Pro507Gln)
ClinVar dbSNP
1g.77942738C=CA1144228879NEXNc.1937C= (p.Pro646=)
c.1745C= (p.Pro582=)
c.1636C=
n.776C=
n.1511C=
c.1895C= (p.Pro632=)
c.1715C= (p.Pro572=)
c.1703C= (p.Pro568=)
c.1520C= (p.Pro507=)
1g.77942738C>GCA340883229NEXNc.1937C>G (p.Pro646Arg)
c.1745C>G (p.Pro582Arg)
c.1636C>G
n.776C>G
n.1511C>G
c.1895C>G (p.Pro632Arg)
c.1715C>G (p.Pro572Arg)
c.1703C>G (p.Pro568Arg)
c.1520C>G (p.Pro507Arg)
dbSNP gnomAD v2 gnomAD v4
1g.77942738C>TCA340883230NEXNc.1937C>T (p.Pro646Leu)
c.1745C>T (p.Pro582Leu)
c.1636C>T
n.776C>T
n.1511C>T
c.1895C>T (p.Pro632Leu)
c.1715C>T (p.Pro572Leu)
c.1703C>T (p.Pro568Leu)
c.1520C>T (p.Pro507Leu)
1g.77942739A=CA1177631459NEXNc.1938A= (p.Pro646=)
c.1746A= (p.Pro582=)
c.1637A=
n.777A=
n.1512A=
c.1896A= (p.Pro632=)
c.1716A= (p.Pro572=)
c.1704A= (p.Pro568=)
c.1521A= (p.Pro507=)
1g.77942739A>CCA418709794NEXNc.1938A>C (p.Pro646=)
c.1746A>C (p.Pro582=)
c.1637A>C
n.777A>C
n.1512A>C
c.1896A>C (p.Pro632=)
c.1716A>C (p.Pro572=)
c.1704A>C (p.Pro568=)
c.1521A>C (p.Pro507=)
ClinVar dbSNP gnomAD v4
1g.77942739A>GCA418709796NEXNc.1938A>G (p.Pro646=)
c.1746A>G (p.Pro582=)
c.1637A>G
n.777A>G
n.1512A>G
c.1896A>G (p.Pro632=)
c.1716A>G (p.Pro572=)
c.1704A>G (p.Pro568=)
c.1521A>G (p.Pro507=)
1g.77942739A>TCA418709797NEXNc.1938A>T (p.Pro646=)
c.1746A>T (p.Pro582=)
c.1637A>T
n.777A>T
n.1512A>T
c.1896A>T (p.Pro632=)
c.1716A>T (p.Pro572=)
c.1704A>T (p.Pro568=)
c.1521A>T (p.Pro507=)
1g.77942740G>ACA340883231NEXNc.1939G>A (p.Glu647Lys)
c.1747G>A (p.Glu583Lys)
c.1638G>A
n.778G>A
n.1513G>A
c.1897G>A (p.Glu633Lys)
c.1717G>A (p.Glu573Lys)
c.1705G>A (p.Glu569Lys)
c.1522G>A (p.Glu508Lys)
1g.77942740G>CCA340883232NEXNc.1939G>C (p.Glu647Gln)
c.1747G>C (p.Glu583Gln)
c.1638G>C
n.778G>C
n.1513G>C
c.1897G>C (p.Glu633Gln)
c.1717G>C (p.Glu573Gln)
c.1705G>C (p.Glu569Gln)
c.1522G>C (p.Glu508Gln)
1g.77942740G>TCA340883233NEXNc.1939G>T (p.Glu647Ter)
c.1747G>T (p.Glu583Ter)
c.1638G>T
n.778G>T
n.1513G>T
c.1897G>T (p.Glu633Ter)
c.1717G>T (p.Glu573Ter)
c.1705G>T (p.Glu569Ter)
c.1522G>T (p.Glu508Ter)
1g.77942741A>CCA340883236NEXNc.1940A>C (p.Glu647Ala)
c.1748A>C (p.Glu583Ala)
c.1639A>C
n.779A>C
n.1514A>C
c.1898A>C (p.Glu633Ala)
c.1718A>C (p.Glu573Ala)
c.1706A>C (p.Glu569Ala)
c.1523A>C (p.Glu508Ala)
1g.77942741A>GCA340883234NEXNc.1940A>G (p.Glu647Gly)
c.1748A>G (p.Glu583Gly)
c.1639A>G
n.779A>G
n.1514A>G
c.1898A>G (p.Glu633Gly)
c.1718A>G (p.Glu573Gly)
c.1706A>G (p.Glu569Gly)
c.1523A>G (p.Glu508Gly)
1g.77942741A>TCA340883235NEXNc.1940A>T (p.Glu647Val)
c.1748A>T (p.Glu583Val)
c.1639A>T
n.779A>T
n.1514A>T
c.1898A>T (p.Glu633Val)
c.1718A>T (p.Glu573Val)
c.1706A>T (p.Glu569Val)
c.1523A>T (p.Glu508Val)
1g.77942742A>CCA340883237NEXNc.1941A>C (p.Glu647Asp)
c.1749A>C (p.Glu583Asp)
c.1640A>C
n.780A>C
n.1515A>C
c.1899A>C (p.Glu633Asp)
c.1719A>C (p.Glu573Asp)
c.1707A>C (p.Glu569Asp)
c.1524A>C (p.Glu508Asp)
1g.77942742A>GCA418709801NEXNc.1941A>G (p.Glu647=)
c.1749A>G (p.Glu583=)
c.1640A>G
n.780A>G
n.1515A>G
c.1899A>G (p.Glu633=)
c.1719A>G (p.Glu573=)
c.1707A>G (p.Glu569=)
c.1524A>G (p.Glu508=)
1g.77942742A>TCA340883238NEXNc.1941A>T (p.Glu647Asp)
c.1749A>T (p.Glu583Asp)
c.1640A>T
n.780A>T
n.1515A>T
c.1899A>T (p.Glu633Asp)
c.1719A>T (p.Glu573Asp)
c.1707A>T (p.Glu569Asp)
c.1524A>T (p.Glu508Asp)
1g.77942743G>ACA340883239NEXNc.1942G>A (p.Asp648Asn)
c.1750G>A (p.Asp584Asn)
c.1641G>A
n.781G>A
n.1516G>A
c.1900G>A (p.Asp634Asn)
c.1720G>A (p.Asp574Asn)
c.1708G>A (p.Asp570Asn)
c.1525G>A (p.Asp509Asn)
gnomAD v4
1g.77942743G>CCA340883240NEXNc.1942G>C (p.Asp648His)
c.1750G>C (p.Asp584His)
c.1641G>C
n.781G>C
n.1516G>C
c.1900G>C (p.Asp634His)
c.1720G>C (p.Asp574His)
c.1708G>C (p.Asp570His)
c.1525G>C (p.Asp509His)
1g.77942743G>TCA340883241NEXNc.1942G>T (p.Asp648Tyr)
c.1750G>T (p.Asp584Tyr)
c.1641G>T
n.781G>T
n.1516G>T
c.1900G>T (p.Asp634Tyr)
c.1720G>T (p.Asp574Tyr)
c.1708G>T (p.Asp570Tyr)
c.1525G>T (p.Asp509Tyr)
1g.77942744A=CA1177631460NEXNc.1943A= (p.Asp648=)
c.1751A= (p.Asp584=)
c.1642A=
n.782A=
n.1517A=
c.1901A= (p.Asp634=)
c.1721A= (p.Asp574=)
c.1709A= (p.Asp570=)
c.1526A= (p.Asp509=)
1g.77942744A>CCA340883243NEXNc.1943A>C (p.Asp648Ala)
c.1751A>C (p.Asp584Ala)
c.1642A>C
n.782A>C
n.1517A>C
c.1901A>C (p.Asp634Ala)
c.1721A>C (p.Asp574Ala)
c.1709A>C (p.Asp570Ala)
c.1526A>C (p.Asp509Ala)
1g.77942744A>GCA919010NEXNc.1943A>G (p.Asp648Gly)
c.1751A>G (p.Asp584Gly)
c.1642A>G
n.782A>G
n.1517A>G
c.1901A>G (p.Asp634Gly)
c.1721A>G (p.Asp574Gly)
c.1709A>G (p.Asp570Gly)
c.1526A>G (p.Asp509Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77942744A>TCA340883242NEXNc.1943A>T (p.Asp648Val)
c.1751A>T (p.Asp584Val)
c.1642A>T
n.782A>T
n.1517A>T
c.1901A>T (p.Asp634Val)
c.1721A>T (p.Asp574Val)
c.1709A>T (p.Asp570Val)
c.1526A>T (p.Asp509Val)
dbSNP gnomAD v2
1g.77942745T>ACA340883244NEXNc.1944T>A (p.Asp648Glu)
c.1752T>A (p.Asp584Glu)
c.1643T>A
n.783T>A
n.1518T>A
c.1902T>A (p.Asp634Glu)
c.1722T>A (p.Asp574Glu)
c.1710T>A (p.Asp570Glu)
c.1527T>A (p.Asp509Glu)
1g.77942745T>CCA418709807NEXNc.1944T>C (p.Asp648=)
c.1752T>C (p.Asp584=)
c.1643T>C
n.783T>C
n.1518T>C
c.1902T>C (p.Asp634=)
c.1722T>C (p.Asp574=)
c.1710T>C (p.Asp570=)
c.1527T>C (p.Asp509=)
gnomAD v4
1g.77942745T>GCA340883245NEXNc.1944T>G (p.Asp648Glu)
c.1752T>G (p.Asp584Glu)
c.1643T>G
n.783T>G
n.1518T>G
c.1902T>G (p.Asp634Glu)
c.1722T>G (p.Asp574Glu)
c.1710T>G (p.Asp570Glu)
c.1527T>G (p.Asp509Glu)
1g.77942745_77942748delinsTGGACA1177631461NEXNc.1944_1947delinsTGGA (p.Asp648=)
c.1752_1755delinsTGGA (p.Asp584=)
c.1643_1646delinsTGGA
n.783_786delinsTGGA
n.1518_1521delinsTGGA
c.1902_1905delinsTGGA (p.Asp634=)
c.1722_1725delinsTGGA (p.Asp574=)
c.1710_1713delinsTGGA (p.Asp570=)
c.1527_1530delinsTGGA (p.Asp509=)
1g.77942746G>ACA340883246NEXNc.1945G>A (p.Gly649Arg)
c.1753G>A (p.Gly585Arg)
c.1644G>A
n.784G>A
n.1519G>A
c.1903G>A (p.Gly635Arg)
c.1723G>A (p.Gly575Arg)
c.1711G>A (p.Gly571Arg)
c.1528G>A (p.Gly510Arg)
1g.77942746G>CCA340883247NEXNc.1945G>C (p.Gly649Arg)
c.1753G>C (p.Gly585Arg)
c.1644G>C
n.784G>C
n.1519G>C
c.1903G>C (p.Gly635Arg)
c.1723G>C (p.Gly575Arg)
c.1711G>C (p.Gly571Arg)
c.1528G>C (p.Gly510Arg)
1g.77942746G>TCA340883248NEXNc.1945G>T (p.Gly649Ter)
c.1753G>T (p.Gly585Ter)
c.1644G>T
n.784G>T
n.1519G>T
c.1903G>T (p.Gly635Ter)
c.1723G>T (p.Gly575Ter)
c.1711G>T (p.Gly571Ter)
c.1528G>T (p.Gly510Ter)
1g.77942746_77942752delinsGGAGGAGCA1144228880NEXNc.1945_1951delinsGGAGGAG (p.Gly649=)
c.1753_1759delinsGGAGGAG (p.Gly585=)
c.1644_1650delinsGGAGGAG
n.784_790delinsGGAGGAG
n.1519_1525delinsGGAGGAG
c.1903_1909delinsGGAGGAG (p.Gly635=)
c.1723_1729delinsGGAGGAG (p.Gly575=)
c.1711_1717delinsGGAGGAG (p.Gly571=)
c.1528_1534delinsGGAGGAG (p.Gly510=)
1g.77942750_77942752delCA142140NEXNc.1949_1951del (p.Gly650del)
c.1757_1759del (p.Gly586del)
c.1648_1650del
n.788_790del
n.1523_1525del
c.1907_1909del (p.Gly636del)
c.1727_1729del (p.Gly576del)
c.1715_1717del (p.Gly572del)
c.1532_1534del (p.Gly511del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942747G>ACA340883249NEXNc.1946G>A (p.Gly649Glu)
c.1754G>A (p.Gly585Glu)
c.1645G>A
n.785G>A
n.1520G>A
c.1904G>A (p.Gly635Glu)
c.1724G>A (p.Gly575Glu)
c.1712G>A (p.Gly571Glu)
c.1529G>A (p.Gly510Glu)
1g.77942747G>CCA340883250NEXNc.1946G>C (p.Gly649Ala)
c.1754G>C (p.Gly585Ala)
c.1645G>C
n.785G>C
n.1520G>C
c.1904G>C (p.Gly635Ala)
c.1724G>C (p.Gly575Ala)
c.1712G>C (p.Gly571Ala)
c.1529G>C (p.Gly510Ala)
1g.77942747G>TCA340883251NEXNc.1946G>T (p.Gly649Val)
c.1754G>T (p.Gly585Val)
c.1645G>T
n.785G>T
n.1520G>T
c.1904G>T (p.Gly635Val)
c.1724G>T (p.Gly575Val)
c.1712G>T (p.Gly571Val)
c.1529G>T (p.Gly510Val)
1g.77942748A>CCA418709813NEXNc.1947A>C (p.Gly649=)
c.1755A>C (p.Gly585=)
c.1646A>C
n.786A>C
n.1521A>C
c.1905A>C (p.Gly635=)
c.1725A>C (p.Gly575=)
c.1713A>C (p.Gly571=)
c.1530A>C (p.Gly510=)
1g.77942748A>GCA418709811NEXNc.1947A>G (p.Gly649=)
c.1755A>G (p.Gly585=)
c.1646A>G
n.786A>G
n.1521A>G
c.1905A>G (p.Gly635=)
c.1725A>G (p.Gly575=)
c.1713A>G (p.Gly571=)
c.1530A>G (p.Gly510=)
1g.77942748A>TCA418709812NEXNc.1947A>T (p.Gly649=)
c.1755A>T (p.Gly585=)
c.1646A>T
n.786A>T
n.1521A>T
c.1905A>T (p.Gly635=)
c.1725A>T (p.Gly575=)
c.1713A>T (p.Gly571=)
c.1530A>T (p.Gly510=)
1g.77942749G>ACA340883252NEXNc.1948G>A (p.Gly650Arg)
c.1756G>A (p.Gly586Arg)
c.1647G>A
n.787G>A
n.1522G>A
c.1906G>A (p.Gly636Arg)
c.1726G>A (p.Gly576Arg)
c.1714G>A (p.Gly572Arg)
c.1531G>A (p.Gly511Arg)
ClinVar gnomAD v4
1g.77942749G>CCA340883253NEXNc.1948G>C (p.Gly650Arg)
c.1756G>C (p.Gly586Arg)
c.1647G>C
n.787G>C
n.1522G>C
c.1906G>C (p.Gly636Arg)
c.1726G>C (p.Gly576Arg)
c.1714G>C (p.Gly572Arg)
c.1531G>C (p.Gly511Arg)
1g.77942749G>TCA340883254NEXNc.1948G>T (p.Gly650Ter)
c.1756G>T (p.Gly586Ter)
c.1647G>T
n.787G>T
n.1522G>T
c.1906G>T (p.Gly636Ter)
c.1726G>T (p.Gly576Ter)
c.1714G>T (p.Gly572Ter)
c.1531G>T (p.Gly511Ter)
1g.77942749_77942751delinsGGACA1177631462NEXNc.1948_1950delinsGGA (p.Gly650=)
c.1756_1758delinsGGA (p.Gly586=)
c.1647_1649delinsGGA
n.787_789delinsGGA
n.1522_1524delinsGGA
c.1906_1908delinsGGA (p.Gly636=)
c.1726_1728delinsGGA (p.Gly576=)
c.1714_1716delinsGGA (p.Gly572=)
c.1531_1533delinsGGA (p.Gly511=)
1g.77942750G>ACA340883257NEXNc.1949G>A (p.Gly650Glu)
c.1757G>A (p.Gly586Glu)
c.1648G>A
n.788G>A
n.1523G>A
c.1907G>A (p.Gly636Glu)
c.1727G>A (p.Gly576Glu)
c.1715G>A (p.Gly572Glu)
c.1532G>A (p.Gly511Glu)
1g.77942750G>CCA340883255NEXNc.1949G>C (p.Gly650Ala)
c.1757G>C (p.Gly586Ala)
c.1648G>C
n.788G>C
n.1523G>C
c.1907G>C (p.Gly636Ala)
c.1727G>C (p.Gly576Ala)
c.1715G>C (p.Gly572Ala)
c.1532G>C (p.Gly511Ala)
1g.77942750G>TCA340883256NEXNc.1949G>T (p.Gly650Val)
c.1757G>T (p.Gly586Val)
c.1648G>T
n.788G>T
n.1523G>T
c.1907G>T (p.Gly636Val)
c.1727G>T (p.Gly576Val)
c.1715G>T (p.Gly572Val)
c.1532G>T (p.Gly511Val)
gnomAD v4
1g.77942753_77942754delCA658795481NEXNc.1952_1953del (p.Glu651ValfsTer4)
c.1760_1761del (p.Glu587ValfsTer4)
c.1651_1652del
n.1526_1527del
c.1910_1911del (p.Glu637ValfsTer4)
c.1730_1731del (p.Glu577ValfsTer4)
c.1718_1719del (p.Glu573ValfsTer4)
c.1535_1536del (p.Glu512ValfsTer4)
ClinVar dbSNP gnomAD v4
1g.77942751A>CCA418709815NEXNc.1950A>C (p.Gly650=)
c.1758A>C (p.Gly586=)
c.1649A>C
n.789A>C
n.1524A>C
c.1908A>C (p.Gly636=)
c.1728A>C (p.Gly576=)
c.1716A>C (p.Gly572=)
c.1533A>C (p.Gly511=)
gnomAD v4
1g.77942751A>GCA418709817NEXNc.1950A>G (p.Gly650=)
c.1758A>G (p.Gly586=)
c.1649A>G
n.789A>G
n.1524A>G
c.1908A>G (p.Gly636=)
c.1728A>G (p.Gly576=)
c.1716A>G (p.Gly572=)
c.1533A>G (p.Gly511=)
ClinVar dbSNP
1g.77942751A>TCA418709818NEXNc.1950A>T (p.Gly650=)
c.1758A>T (p.Gly586=)
c.1649A>T
n.789A>T
n.1524A>T
c.1908A>T (p.Gly636=)
c.1728A>T (p.Gly576=)
c.1716A>T (p.Gly572=)
c.1533A>T (p.Gly511=)
1g.77942752G>ACA340883260NEXNc.1951G>A (p.Glu651Lys)
c.1759G>A (p.Glu587Lys)
c.1650G>A
n.790G>A
n.1525G>A
c.1909G>A (p.Glu637Lys)
c.1729G>A (p.Glu577Lys)
c.1717G>A (p.Glu573Lys)
c.1534G>A (p.Glu512Lys)
ClinVar dbSNP gnomAD v4
1g.77942752G>CCA340883258NEXNc.1951G>C (p.Glu651Gln)
c.1759G>C (p.Glu587Gln)
c.1650G>C
n.790G>C
n.1525G>C
c.1909G>C (p.Glu637Gln)
c.1729G>C (p.Glu577Gln)
c.1717G>C (p.Glu573Gln)
c.1534G>C (p.Glu512Gln)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.77942752G=CA1177631463NEXNc.1951G= (p.Glu651=)
c.1759G= (p.Glu587=)
c.1650G=
n.790G=
n.1525G=
c.1909G= (p.Glu637=)
c.1729G= (p.Glu577=)
c.1717G= (p.Glu573=)
c.1534G= (p.Glu512=)
1g.77942752G>TCA340883259NEXNc.1951G>T (p.Glu651Ter)
c.1759G>T (p.Glu587Ter)
c.1650G>T
n.790G>T
n.1525G>T
c.1909G>T (p.Glu637Ter)
c.1729G>T (p.Glu577Ter)
c.1717G>T (p.Glu573Ter)
c.1534G>T (p.Glu512Ter)
1g.77942753A>CCA340883261NEXNc.1952A>C (p.Glu651Ala)
c.1760A>C (p.Glu587Ala)
c.1651A>C
n.791A>C
n.1526A>C
c.1910A>C (p.Glu637Ala)
c.1730A>C (p.Glu577Ala)
c.1718A>C (p.Glu573Ala)
c.1535A>C (p.Glu512Ala)
1g.77942753A>GCA340883262NEXNc.1952A>G (p.Glu651Gly)
c.1760A>G (p.Glu587Gly)
c.1651A>G
n.791A>G
n.1526A>G
c.1910A>G (p.Glu637Gly)
c.1730A>G (p.Glu577Gly)
c.1718A>G (p.Glu573Gly)
c.1535A>G (p.Glu512Gly)
1g.77942753A>TCA340883263NEXNc.1952A>T (p.Glu651Val)
c.1760A>T (p.Glu587Val)
c.1651A>T
n.791A>T
n.1526A>T
c.1910A>T (p.Glu637Val)
c.1730A>T (p.Glu577Val)
c.1718A>T (p.Glu573Val)
c.1535A>T (p.Glu512Val)
1g.77942754G>ACA418709819NEXNc.1953G>A (p.Glu651=)
c.1761G>A (p.Glu587=)
c.1652G>A
n.1527G>A
c.1911G>A (p.Glu637=)
c.1731G>A (p.Glu577=)
c.1719G>A (p.Glu573=)
c.1536G>A (p.Glu512=)
1g.77942754G>CCA340883264NEXNc.1953G>C (p.Glu651Asp)
c.1761G>C (p.Glu587Asp)
c.1652G>C
n.1527G>C
c.1911G>C (p.Glu637Asp)
c.1731G>C (p.Glu577Asp)
c.1719G>C (p.Glu573Asp)
c.1536G>C (p.Glu512Asp)
1g.77942754G>TCA340883265NEXNc.1953G>T (p.Glu651Asp)
c.1761G>T (p.Glu587Asp)
c.1652G>T
n.1527G>T
c.1911G>T (p.Glu637Asp)
c.1731G>T (p.Glu577Asp)
c.1719G>T (p.Glu573Asp)
c.1536G>T (p.Glu512Asp)
1g.77942755T>ACA340883266NEXNc.1954T>A (p.Tyr652Asn)
c.1762T>A (p.Tyr588Asn)
c.1653T>A
n.1528T>A
c.1912T>A (p.Tyr638Asn)
c.1732T>A (p.Tyr578Asn)
c.1720T>A (p.Tyr574Asn)
c.1537T>A (p.Tyr513Asn)
gnomAD v4
1g.77942755T>CCA340883267NEXNc.1954T>C (p.Tyr652His)
c.1762T>C (p.Tyr588His)
c.1653T>C
n.1528T>C
c.1912T>C (p.Tyr638His)
c.1732T>C (p.Tyr578His)
c.1720T>C (p.Tyr574His)
c.1537T>C (p.Tyr513His)
1g.77942755T>GCA340883268NEXNc.1954T>G (p.Tyr652Asp)
c.1762T>G (p.Tyr588Asp)
c.1653T>G
n.1528T>G
c.1912T>G (p.Tyr638Asp)
c.1732T>G (p.Tyr578Asp)
c.1720T>G (p.Tyr574Asp)
c.1537T>G (p.Tyr513Asp)
1g.77942758_77942759delCA2740152414NEXNc.1957_1958del (p.Met653ValfsTer2)
c.1765_1766del (p.Met589ValfsTer2)
c.1656_1657del
n.1531_1532del
c.1915_1916del (p.Met639ValfsTer2)
c.1735_1736del (p.Met579ValfsTer2)
c.1723_1724del (p.Met575ValfsTer2)
c.1540_1541del (p.Met514ValfsTer2)
1g.77942756A=CA1141580867NEXNc.1955A= (p.Tyr652=)
c.1763A= (p.Tyr588=)
c.1654A=
n.1529A=
c.1913A= (p.Tyr638=)
c.1733A= (p.Tyr578=)
c.1721A= (p.Tyr574=)
c.1538A= (p.Tyr513=)
1g.77942756A>CCA340883269NEXNc.1955A>C (p.Tyr652Ser)
c.1763A>C (p.Tyr588Ser)
c.1654A>C
n.1529A>C
c.1913A>C (p.Tyr638Ser)
c.1733A>C (p.Tyr578Ser)
c.1721A>C (p.Tyr574Ser)
c.1538A>C (p.Tyr513Ser)
1g.77942756A>GCA142143NEXNc.1955A>G (p.Tyr652Cys)
c.1763A>G (p.Tyr588Cys)
c.1654A>G
n.1529A>G
c.1913A>G (p.Tyr638Cys)
c.1733A>G (p.Tyr578Cys)
c.1721A>G (p.Tyr574Cys)
c.1538A>G (p.Tyr513Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942756A>TCA340883270NEXNc.1955A>T (p.Tyr652Phe)
c.1763A>T (p.Tyr588Phe)
c.1654A>T
n.1529A>T
c.1913A>T (p.Tyr638Phe)
c.1733A>T (p.Tyr578Phe)
c.1721A>T (p.Tyr574Phe)
c.1538A>T (p.Tyr513Phe)

Number of alleles fetched