Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122284134T>ACA119541CASRc.1949T>A (p.Leu650Gln)
c.2210T>A (p.Leu737Gln)
c.2180T>A (p.Leu727Gln)
c.1697T>A (p.Leu566Gln)
c.1592T>A (p.Leu531Gln)
 ClinVar dbSNP
3g.122284134T>CCA354158915CASRc.1949T>C (p.Leu650Pro)
c.2210T>C (p.Leu737Pro)
c.2180T>C (p.Leu727Pro)
c.1697T>C (p.Leu566Pro)
c.1592T>C (p.Leu531Pro)
3g.122284134T>GCA354158917CASRc.1949T>G (p.Leu650Arg)
c.2210T>G (p.Leu737Arg)
c.2180T>G (p.Leu727Arg)
c.1697T>G (p.Leu566Arg)
c.1592T>G (p.Leu531Arg)
3g.122284134T=CA1397871757CASRc.1949T= (p.Leu650=)
c.2210T= (p.Leu737=)
c.2180T= (p.Leu727=)
c.1697T= (p.Leu566=)
c.1592T= (p.Leu531=)
3g.122284135G>ACA435425270CASRc.1950G>A (p.Leu650=)
c.2211G>A (p.Leu737=)
c.2181G>A (p.Leu727=)
c.1698G>A (p.Leu566=)
c.1593G>A (p.Leu531=)
 ClinVar gnomAD v4
3g.122284135G>CCA435425272CASRc.1950G>C (p.Leu650=)
c.2211G>C (p.Leu737=)
c.2181G>C (p.Leu727=)
c.1698G>C (p.Leu566=)
c.1593G>C (p.Leu531=)
3g.122284135G>TCA435425274CASRc.1950G>T (p.Leu650=)
c.2211G>T (p.Leu737=)
c.2181G>T (p.Leu727=)
c.1698G>T (p.Leu566=)
c.1593G>T (p.Leu531=)
3g.122284136G>ACA354158919CASRc.1951G>A (p.Val651Ile)
c.2212G>A (p.Val738Ile)
c.2182G>A (p.Val728Ile)
c.1699G>A (p.Val567Ile)
c.1594G>A (p.Val532Ile)
 ClinVar dbSNP
3g.122284136G>CCA354158921CASRc.1951G>C (p.Val651Leu)
c.2212G>C (p.Val738Leu)
c.2182G>C (p.Val728Leu)
c.1699G>C (p.Val567Leu)
c.1594G>C (p.Val532Leu)
 ClinVar dbSNP
3g.122284136G=CA1397871760CASRc.1951G= (p.Val651=)
c.2212G= (p.Val738=)
c.2182G= (p.Val728=)
c.1699G= (p.Val567=)
c.1594G= (p.Val532=)
3g.122284136G>TCA354158923CASRc.1951G>T (p.Val651Phe)
c.2212G>T (p.Val738Phe)
c.2182G>T (p.Val728Phe)
c.1699G>T (p.Val567Phe)
c.1594G>T (p.Val532Phe)
 ClinVar gnomAD v4
3g.122284137T>ACA354158925CASRc.1952T>A (p.Val651Asp)
c.2213T>A (p.Val738Asp)
c.2183T>A (p.Val728Asp)
c.1700T>A (p.Val567Asp)
c.1595T>A (p.Val532Asp)
3g.122284137T>CCA354158929CASRc.1952T>C (p.Val651Ala)
c.2213T>C (p.Val738Ala)
c.2183T>C (p.Val728Ala)
c.1700T>C (p.Val567Ala)
c.1595T>C (p.Val532Ala)
3g.122284137T>GCA354158927CASRc.1952T>G (p.Val651Gly)
c.2213T>G (p.Val738Gly)
c.2183T>G (p.Val728Gly)
c.1700T>G (p.Val567Gly)
c.1595T>G (p.Val532Gly)
3g.122284138T>ACA435425276CASRc.1953T>A (p.Val651=)
c.2214T>A (p.Val738=)
c.2184T>A (p.Val728=)
c.1701T>A (p.Val567=)
c.1596T>A (p.Val532=)
 ClinVar gnomAD v4
3g.122284138T>CCA435425278CASRc.1953T>C (p.Val651=)
c.2214T>C (p.Val738=)
c.2184T>C (p.Val728=)
c.1701T>C (p.Val567=)
c.1596T>C (p.Val532=)
 ClinVar dbSNP
3g.122284138T>GCA435425277CASRc.1953T>G (p.Val651=)
c.2214T>G (p.Val738=)
c.2184T>G (p.Val728=)
c.1701T>G (p.Val567=)
c.1596T>G (p.Val532=)
 ClinVar gnomAD v4
3g.122284138T=CA1397871762CASRc.1953T= (p.Val651=)
c.2214T= (p.Val738=)
c.2184T= (p.Val728=)
c.1701T= (p.Val567=)
c.1596T= (p.Val532=)
3g.122284139T>ACA354158931CASRc.1954T>A (p.Phe652Ile)
c.2215T>A (p.Phe739Ile)
c.2185T>A (p.Phe729Ile)
c.1702T>A (p.Phe568Ile)
c.1597T>A (p.Phe533Ile)
3g.122284139T>CCA354158933CASRc.1954T>C (p.Phe652Leu)
c.2215T>C (p.Phe739Leu)
c.2185T>C (p.Phe729Leu)
c.1702T>C (p.Phe568Leu)
c.1597T>C (p.Phe533Leu)
 ClinVar
3g.122284139T>GCA354158935CASRc.1954T>G (p.Phe652Val)
c.2215T>G (p.Phe739Val)
c.2185T>G (p.Phe729Val)
c.1702T>G (p.Phe568Val)
c.1597T>G (p.Phe533Val)
3g.122284140T>ACA354158937CASRc.1955T>A (p.Phe652Tyr)
c.2216T>A (p.Phe739Tyr)
c.2186T>A (p.Phe729Tyr)
c.1703T>A (p.Phe568Tyr)
c.1598T>A (p.Phe533Tyr)
3g.122284140T>CCA354158939CASRc.1955T>C (p.Phe652Ser)
c.2216T>C (p.Phe739Ser)
c.2186T>C (p.Phe729Ser)
c.1703T>C (p.Phe568Ser)
c.1598T>C (p.Phe533Ser)
3g.122284140T>GCA354158941CASRc.1955T>G (p.Phe652Cys)
c.2216T>G (p.Phe739Cys)
c.2186T>G (p.Phe729Cys)
c.1703T>G (p.Phe568Cys)
c.1598T>G (p.Phe533Cys)
3g.122284141C>ACA354158943CASRc.1956C>A (p.Phe652Leu)
c.2217C>A (p.Phe739Leu)
c.2187C>A (p.Phe729Leu)
c.1704C>A (p.Phe568Leu)
c.1599C>A (p.Phe533Leu)
3g.122284141C>GCA354158944CASRc.1956C>G (p.Phe652Leu)
c.2217C>G (p.Phe739Leu)
c.2187C>G (p.Phe729Leu)
c.1704C>G (p.Phe568Leu)
c.1599C>G (p.Phe533Leu)
3g.122284141C>TCA435425283CASRc.1956C>T (p.Phe652=)
c.2217C>T (p.Phe739=)
c.2187C>T (p.Phe729=)
c.1704C>T (p.Phe568=)
c.1599C>T (p.Phe533=)
 ClinVar
3g.122284142C>ACA354158946CASRc.1957C>A (p.Leu653Ile)
c.2218C>A (p.Leu740Ile)
c.2188C>A (p.Leu730Ile)
c.1705C>A (p.Leu569Ile)
c.1600C>A (p.Leu534Ile)
 dbSNP gnomAD v2 gnomAD v4
3g.122284142C=CA1397871764CASRc.1957C= (p.Leu653=)
c.2218C= (p.Leu740=)
c.2188C= (p.Leu730=)
c.1705C= (p.Leu569=)
c.1600C= (p.Leu534=)
3g.122284142C>GCA354158947CASRc.1957C>G (p.Leu653Val)
c.2218C>G (p.Leu740Val)
c.2188C>G (p.Leu730Val)
c.1705C>G (p.Leu569Val)
c.1600C>G (p.Leu534Val)
3g.122284142C>TCA354158949CASRc.1957C>T (p.Leu653Phe)
c.2218C>T (p.Leu740Phe)
c.2188C>T (p.Leu730Phe)
c.1705C>T (p.Leu569Phe)
c.1600C>T (p.Leu534Phe)
 ClinVar gnomAD v4
3g.122284143T>ACA354158951CASRc.1958T>A (p.Leu653His)
c.2219T>A (p.Leu740His)
c.2189T>A (p.Leu730His)
c.1706T>A (p.Leu569His)
c.1601T>A (p.Leu534His)
3g.122284143T>CCA354158956CASRc.1958T>C (p.Leu653Pro)
c.2219T>C (p.Leu740Pro)
c.2189T>C (p.Leu730Pro)
c.1706T>C (p.Leu569Pro)
c.1601T>C (p.Leu534Pro)
3g.122284143T>GCA354158955CASRc.1958T>G (p.Leu653Arg)
c.2219T>G (p.Leu740Arg)
c.2189T>G (p.Leu730Arg)
c.1706T>G (p.Leu569Arg)
c.1601T>G (p.Leu534Arg)
3g.122284144C>ACA435425286CASRc.1959C>A (p.Leu653=)
c.2220C>A (p.Leu740=)
c.2190C>A (p.Leu730=)
c.1707C>A (p.Leu569=)
c.1602C>A (p.Leu534=)
 COSMIC
3g.122284144C=CA1397871768CASRc.1959C= (p.Leu653=)
c.2220C= (p.Leu740=)
c.2190C= (p.Leu730=)
c.1707C= (p.Leu569=)
c.1602C= (p.Leu534=)
3g.122284144C>GCA435425287CASRc.1959C>G (p.Leu653=)
c.2220C>G (p.Leu740=)
c.2190C>G (p.Leu730=)
c.1707C>G (p.Leu569=)
c.1602C>G (p.Leu534=)
 ClinVar
3g.122284144C>TCA435425288CASRc.1959C>T (p.Leu653=)
c.2220C>T (p.Leu740=)
c.2190C>T (p.Leu730=)
c.1707C>T (p.Leu569=)
c.1602C>T (p.Leu534=)
 ClinVar dbSNP gnomAD v4
3g.122284145T>ACA354158959CASRc.1960T>A (p.Cys654Ser)
c.2221T>A (p.Cys741Ser)
c.2191T>A (p.Cys731Ser)
c.1708T>A (p.Cys570Ser)
c.1603T>A (p.Cys535Ser)
 ClinVar
3g.122284145T>CCA354158960CASRc.1960T>C (p.Cys654Arg)
c.2221T>C (p.Cys741Arg)
c.2191T>C (p.Cys731Arg)
c.1708T>C (p.Cys570Arg)
c.1603T>C (p.Cys535Arg)
3g.122284145T>GCA354158962CASRc.1960T>G (p.Cys654Gly)
c.2221T>G (p.Cys741Gly)
c.2191T>G (p.Cys731Gly)
c.1708T>G (p.Cys570Gly)
c.1603T>G (p.Cys535Gly)
3g.122284146G>ACA354158964CASRc.1961G>A (p.Cys654Tyr)
c.2222G>A (p.Cys741Tyr)
c.2192G>A (p.Cys731Tyr)
c.1709G>A (p.Cys570Tyr)
c.1604G>A (p.Cys535Tyr)
3g.122284146G>CCA354158965CASRc.1961G>C (p.Cys654Ser)
c.2222G>C (p.Cys741Ser)
c.2192G>C (p.Cys731Ser)
c.1709G>C (p.Cys570Ser)
c.1604G>C (p.Cys535Ser)
3g.122284146G>TCA354158967CASRc.1961G>T (p.Cys654Phe)
c.2222G>T (p.Cys741Phe)
c.2192G>T (p.Cys731Phe)
c.1709G>T (p.Cys570Phe)
c.1604G>T (p.Cys535Phe)
3g.122284147C>ACA354158969CASRc.1962C>A (p.Cys654Ter)
c.2223C>A (p.Cys741Ter)
c.2193C>A (p.Cys731Ter)
c.1710C>A (p.Cys570Ter)
c.1605C>A (p.Cys535Ter)
3g.122284147C=CA1397871770CASRc.1962C= (p.Cys654=)
c.2223C= (p.Cys741=)
c.2193C= (p.Cys731=)
c.1710C= (p.Cys570=)
c.1605C= (p.Cys535=)
3g.122284147C>GCA354158970CASRc.1962C>G (p.Cys654Trp)
c.2223C>G (p.Cys741Trp)
c.2193C>G (p.Cys731Trp)
c.1710C>G (p.Cys570Trp)
c.1605C>G (p.Cys535Trp)
3g.122284147C>TCA2569790CASRc.1962C>T (p.Cys654=)
c.2223C>T (p.Cys741=)
c.2193C>T (p.Cys731=)
c.1710C>T (p.Cys570=)
c.1605C>T (p.Cys535=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284148A=CA1397871773CASRc.1963A= (p.Thr655=)
c.2224A= (p.Thr742=)
c.2194A= (p.Thr732=)
c.1711A= (p.Thr571=)
c.1606A= (p.Thr536=)
3g.122284148A>CCA354158971CASRc.1963A>C (p.Thr655Pro)
c.2224A>C (p.Thr742Pro)
c.2194A>C (p.Thr732Pro)
c.1711A>C (p.Thr571Pro)
c.1606A>C (p.Thr536Pro)
3g.122284148A>GCA354158972CASRc.1963A>G (p.Thr655Ala)
c.2224A>G (p.Thr742Ala)
c.2194A>G (p.Thr732Ala)
c.1711A>G (p.Thr571Ala)
c.1606A>G (p.Thr536Ala)
 ClinVar dbSNP COSMIC
3g.122284148A>TCA354158973CASRc.1963A>T (p.Thr655Ser)
c.2224A>T (p.Thr742Ser)
c.2194A>T (p.Thr732Ser)
c.1711A>T (p.Thr571Ser)
c.1606A>T (p.Thr536Ser)
3g.122284149C>ACA354158979CASRc.1964C>A (p.Thr655Asn)
c.2225C>A (p.Thr742Asn)
c.2195C>A (p.Thr732Asn)
c.1712C>A (p.Thr571Asn)
c.1607C>A (p.Thr536Asn)
3g.122284149C>GCA354158975CASRc.1964C>G (p.Thr655Ser)
c.2225C>G (p.Thr742Ser)
c.2195C>G (p.Thr732Ser)
c.1712C>G (p.Thr571Ser)
c.1607C>G (p.Thr536Ser)
3g.122284149C>TCA354158977CASRc.1964C>T (p.Thr655Ile)
c.2225C>T (p.Thr742Ile)
c.2195C>T (p.Thr732Ile)
c.1712C>T (p.Thr571Ile)
c.1607C>T (p.Thr536Ile)
 gnomAD v4
3g.122284150C>ACA435425295CASRc.1965C>A (p.Thr655=)
c.2226C>A (p.Thr742=)
c.2196C>A (p.Thr732=)
c.1713C>A (p.Thr571=)
c.1608C>A (p.Thr536=)
 gnomAD v4
3g.122284150C>GCA435425296CASRc.1965C>G (p.Thr655=)
c.2226C>G (p.Thr742=)
c.2196C>G (p.Thr732=)
c.1713C>G (p.Thr571=)
c.1608C>G (p.Thr536=)
3g.122284150C>TCA435425298CASRc.1965C>T (p.Thr655=)
c.2226C>T (p.Thr742=)
c.2196C>T (p.Thr732=)
c.1713C>T (p.Thr571=)
c.1608C>T (p.Thr536=)
 ClinVar gnomAD v4
3g.122284151T>ACA354158982CASRc.1966T>A (p.Phe656Ile)
c.2227T>A (p.Phe743Ile)
c.2197T>A (p.Phe733Ile)
c.1714T>A (p.Phe572Ile)
c.1609T>A (p.Phe537Ile)
 gnomAD v4
3g.122284151T>CCA354158984CASRc.1966T>C (p.Phe656Leu)
c.2227T>C (p.Phe743Leu)
c.2197T>C (p.Phe733Leu)
c.1714T>C (p.Phe572Leu)
c.1609T>C (p.Phe537Leu)
3g.122284151T>GCA354158985CASRc.1966T>G (p.Phe656Val)
c.2227T>G (p.Phe743Val)
c.2197T>G (p.Phe733Val)
c.1714T>G (p.Phe572Val)
c.1609T>G (p.Phe537Val)
3g.122284152T>ACA354158989CASRc.1967T>A (p.Phe656Tyr)
c.2228T>A (p.Phe743Tyr)
c.2198T>A (p.Phe733Tyr)
c.1715T>A (p.Phe572Tyr)
c.1610T>A (p.Phe537Tyr)
3g.122284152T>CCA354158991CASRc.1967T>C (p.Phe656Ser)
c.2228T>C (p.Phe743Ser)
c.2198T>C (p.Phe733Ser)
c.1715T>C (p.Phe572Ser)
c.1610T>C (p.Phe537Ser)
3g.122284152T>GCA354158993CASRc.1967T>G (p.Phe656Cys)
c.2228T>G (p.Phe743Cys)
c.2198T>G (p.Phe733Cys)
c.1715T>G (p.Phe572Cys)
c.1610T>G (p.Phe537Cys)
3g.122284153C>ACA354158995CASRc.1968C>A (p.Phe656Leu)
c.2229C>A (p.Phe743Leu)
c.2199C>A (p.Phe733Leu)
c.1716C>A (p.Phe572Leu)
c.1611C>A (p.Phe537Leu)
 ClinVar dbSNP
3g.122284153C=CA1397871778CASRc.1968C= (p.Phe656=)
c.2229C= (p.Phe743=)
c.2199C= (p.Phe733=)
c.1716C= (p.Phe572=)
c.1611C= (p.Phe537=)
3g.122284153C>GCA354158996CASRc.1968C>G (p.Phe656Leu)
c.2229C>G (p.Phe743Leu)
c.2199C>G (p.Phe733Leu)
c.1716C>G (p.Phe572Leu)
c.1611C>G (p.Phe537Leu)
3g.122284153C>TCA435425302CASRc.1968C>T (p.Phe656=)
c.2229C>T (p.Phe743=)
c.2199C>T (p.Phe733=)
c.1716C>T (p.Phe572=)
c.1611C>T (p.Phe537=)
 COSMIC
3g.122284154A=CA1397871784CASRc.1969A= (p.Met657=)
c.2230A= (p.Met744=)
c.2200A= (p.Met734=)
c.1717A= (p.Met573=)
c.1612A= (p.Met538=)
3g.122284154A>CCA354158997CASRc.1969A>C (p.Met657Leu)
c.2230A>C (p.Met744Leu)
c.2200A>C (p.Met734Leu)
c.1717A>C (p.Met573Leu)
c.1612A>C (p.Met538Leu)
3g.122284154A>GCA354158999CASRc.1969A>G (p.Met657Val)
c.2230A>G (p.Met744Val)
c.2200A>G (p.Met734Val)
c.1717A>G (p.Met573Val)
c.1612A>G (p.Met538Val)
3g.122284154A>TCA354159001CASRc.1969A>T (p.Met657Leu)
c.2230A>T (p.Met744Leu)
c.2200A>T (p.Met734Leu)
c.1717A>T (p.Met573Leu)
c.1612A>T (p.Met538Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122284155T>ACA354159005CASRc.1970T>A (p.Met657Lys)
c.2231T>A (p.Met744Lys)
c.2201T>A (p.Met734Lys)
c.1718T>A (p.Met573Lys)
c.1613T>A (p.Met538Lys)
3g.122284155T>CCA354159008CASRc.1970T>C (p.Met657Thr)
c.2231T>C (p.Met744Thr)
c.2201T>C (p.Met734Thr)
c.1718T>C (p.Met573Thr)
c.1613T>C (p.Met538Thr)
3g.122284155T>GCA354159003CASRc.1970T>G (p.Met657Arg)
c.2231T>G (p.Met744Arg)
c.2201T>G (p.Met734Arg)
c.1718T>G (p.Met573Arg)
c.1613T>G (p.Met538Arg)
 gnomAD v4
3g.122284156G>ACA82748800CASRc.1971G>A (p.Met657Ile)
c.2232G>A (p.Met744Ile)
c.2202G>A (p.Met734Ile)
c.1719G>A (p.Met573Ile)
c.1614G>A (p.Met538Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122284156G>CCA354159011CASRc.1971G>C (p.Met657Ile)
c.2232G>C (p.Met744Ile)
c.2202G>C (p.Met734Ile)
c.1719G>C (p.Met573Ile)
c.1614G>C (p.Met538Ile)
3g.122284156G=CA1397871787CASRc.1971G= (p.Met657=)
c.2232G= (p.Met744=)
c.2202G= (p.Met734=)
c.1719G= (p.Met573=)
c.1614G= (p.Met538=)
3g.122284156G>TCA354159013CASRc.1971G>T (p.Met657Ile)
c.2232G>T (p.Met744Ile)
c.2202G>T (p.Met734Ile)
c.1719G>T (p.Met573Ile)
c.1614G>T (p.Met538Ile)
 gnomAD v4
3g.122284157C>ACA354159015CASRc.1972C>A (p.Gln658Lys)
c.2233C>A (p.Gln745Lys)
c.2203C>A (p.Gln735Lys)
c.1720C>A (p.Gln574Lys)
c.1615C>A (p.Gln539Lys)
 ClinVar dbSNP
3g.122284157C=CA1397871791CASRc.1972C= (p.Gln658=)
c.2233C= (p.Gln745=)
c.2203C= (p.Gln735=)
c.1720C= (p.Gln574=)
c.1615C= (p.Gln539=)
3g.122284157C>GCA354159018CASRc.1972C>G (p.Gln658Glu)
c.2233C>G (p.Gln745Glu)
c.2203C>G (p.Gln735Glu)
c.1720C>G (p.Gln574Glu)
c.1615C>G (p.Gln539Glu)
 ClinVar
3g.122284157C>TCA354159016CASRc.1972C>T (p.Gln658Ter)
c.2233C>T (p.Gln745Ter)
c.2203C>T (p.Gln735Ter)
c.1720C>T (p.Gln574Ter)
c.1615C>T (p.Gln539Ter)
3g.122284158A>CCA354159020CASRc.1973A>C (p.Gln658Pro)
c.2234A>C (p.Gln745Pro)
c.2204A>C (p.Gln735Pro)
c.1721A>C (p.Gln574Pro)
c.1616A>C (p.Gln539Pro)
 ClinVar
3g.122284158A>GCA354159021CASRc.1973A>G (p.Gln658Arg)
c.2234A>G (p.Gln745Arg)
c.2204A>G (p.Gln735Arg)
c.1721A>G (p.Gln574Arg)
c.1616A>G (p.Gln539Arg)
3g.122284158A>TCA354159022CASRc.1973A>T (p.Gln658Leu)
c.2234A>T (p.Gln745Leu)
c.2204A>T (p.Gln735Leu)
c.1721A>T (p.Gln574Leu)
c.1616A>T (p.Gln539Leu)
3g.122284159G>ACA435425310CASRc.1974G>A (p.Gln658=)
c.2235G>A (p.Gln745=)
c.2205G>A (p.Gln735=)
c.1722G>A (p.Gln574=)
c.1617G>A (p.Gln539=)
3g.122284159G>CCA354159023CASRc.1974G>C (p.Gln658His)
c.2235G>C (p.Gln745His)
c.2205G>C (p.Gln735His)
c.1722G>C (p.Gln574His)
c.1617G>C (p.Gln539His)
 ClinVar gnomAD v4
3g.122284159G>TCA354159024CASRc.1974G>T (p.Gln658His)
c.2235G>T (p.Gln745His)
c.2205G>T (p.Gln735His)
c.1722G>T (p.Gln574His)
c.1617G>T (p.Gln539His)
3g.122284160A>CCA354159026CASRc.1975A>C (p.Ile659Leu)
c.2236A>C (p.Ile746Leu)
c.2206A>C (p.Ile736Leu)
c.1723A>C (p.Ile575Leu)
c.1618A>C (p.Ile540Leu)
3g.122284160A>GCA354159028CASRc.1975A>G (p.Ile659Val)
c.2236A>G (p.Ile746Val)
c.2206A>G (p.Ile736Val)
c.1723A>G (p.Ile575Val)
c.1618A>G (p.Ile540Val)
3g.122284160A>TCA354159030CASRc.1975A>T (p.Ile659Phe)
c.2236A>T (p.Ile746Phe)
c.2206A>T (p.Ile736Phe)
c.1723A>T (p.Ile575Phe)
c.1618A>T (p.Ile540Phe)
3g.122284161T>ACA354159031CASRc.1976T>A (p.Ile659Asn)
c.2237T>A (p.Ile746Asn)
c.2207T>A (p.Ile736Asn)
c.1724T>A (p.Ile575Asn)
c.1619T>A (p.Ile540Asn)
3g.122284161T>CCA2569791CASRc.1976T>C (p.Ile659Thr)
c.2237T>C (p.Ile746Thr)
c.2207T>C (p.Ile736Thr)
c.1724T>C (p.Ile575Thr)
c.1619T>C (p.Ile540Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284161T>GCA354159034CASRc.1976T>G (p.Ile659Ser)
c.2237T>G (p.Ile746Ser)
c.2207T>G (p.Ile736Ser)
c.1724T>G (p.Ile575Ser)
c.1619T>G (p.Ile540Ser)
3g.122284161T=CA1397871794CASRc.1976T= (p.Ile659=)
c.2237T= (p.Ile746=)
c.2207T= (p.Ile736=)
c.1724T= (p.Ile575=)
c.1619T= (p.Ile540=)
3g.122284162T>ACA435425314CASRc.1977T>A (p.Ile659=)
c.2238T>A (p.Ile746=)
c.2208T>A (p.Ile736=)
c.1725T>A (p.Ile575=)
c.1620T>A (p.Ile540=)
3g.122284162T>CCA435425315CASRc.1977T>C (p.Ile659=)
c.2238T>C (p.Ile746=)
c.2208T>C (p.Ile736=)
c.1725T>C (p.Ile575=)
c.1620T>C (p.Ile540=)
3g.122284162T>GCA354159036CASRc.1977T>G (p.Ile659Met)
c.2238T>G (p.Ile746Met)
c.2208T>G (p.Ile736Met)
c.1725T>G (p.Ile575Met)
c.1620T>G (p.Ile540Met)
 gnomAD v4
3g.122284163G>ACA2569792CASRc.1978G>A (p.Val660Ile)
c.2239G>A (p.Val747Ile)
c.2209G>A (p.Val737Ile)
c.1726G>A (p.Val576Ile)
c.1621G>A (p.Val541Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284163G>CCA354159039CASRc.1978G>C (p.Val660Leu)
c.2239G>C (p.Val747Leu)
c.2209G>C (p.Val737Leu)
c.1726G>C (p.Val576Leu)
c.1621G>C (p.Val541Leu)
3g.122284163G=CA1397871799CASRc.1978G= (p.Val660=)
c.2239G= (p.Val747=)
c.2209G= (p.Val737=)
c.1726G= (p.Val576=)
c.1621G= (p.Val541=)
3g.122284163G>TCA354159041CASRc.1978G>T (p.Val660Phe)
c.2239G>T (p.Val747Phe)
c.2209G>T (p.Val737Phe)
c.1726G>T (p.Val576Phe)
c.1621G>T (p.Val541Phe)
 dbSNP gnomAD v3 gnomAD v4
3g.122284164T>ACA354159044CASRc.1979T>A (p.Val660Asp)
c.2240T>A (p.Val747Asp)
c.2210T>A (p.Val737Asp)
c.1727T>A (p.Val576Asp)
c.1622T>A (p.Val541Asp)
3g.122284164T>CCA354159045CASRc.1979T>C (p.Val660Ala)
c.2240T>C (p.Val747Ala)
c.2210T>C (p.Val737Ala)
c.1727T>C (p.Val576Ala)
c.1622T>C (p.Val541Ala)
3g.122284164T>GCA354159046CASRc.1979T>G (p.Val660Gly)
c.2240T>G (p.Val747Gly)
c.2210T>G (p.Val737Gly)
c.1727T>G (p.Val576Gly)
c.1622T>G (p.Val541Gly)
3g.122284165C>ACA2569793CASRc.1980C>A (p.Val660=)
c.2241C>A (p.Val747=)
c.2211C>A (p.Val737=)
c.1728C>A (p.Val576=)
c.1623C>A (p.Val541=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284165C=CA1397871800CASRc.1980C= (p.Val660=)
c.2241C= (p.Val747=)
c.2211C= (p.Val737=)
c.1728C= (p.Val576=)
c.1623C= (p.Val541=)
3g.122284165C>GCA435424710CASRc.1980C>G (p.Val660=)
c.2241C>G (p.Val747=)
c.2211C>G (p.Val737=)
c.1728C>G (p.Val576=)
c.1623C>G (p.Val541=)
3g.122284165C>TCA435424711CASRc.1980C>T (p.Val660=)
c.2241C>T (p.Val747=)
c.2211C>T (p.Val737=)
c.1728C>T (p.Val576=)
c.1623C>T (p.Val541=)
 ClinVar
3g.122284166A>CCA354159051CASRc.1981A>C (p.Ile661Leu)
c.2242A>C (p.Ile748Leu)
c.2212A>C (p.Ile738Leu)
c.1729A>C (p.Ile577Leu)
c.1624A>C (p.Ile542Leu)
3g.122284166A>GCA354159053CASRc.1981A>G (p.Ile661Val)
c.2242A>G (p.Ile748Val)
c.2212A>G (p.Ile738Val)
c.1729A>G (p.Ile577Val)
c.1624A>G (p.Ile542Val)
 gnomAD v4
3g.122284166A>TCA354159055CASRc.1981A>T (p.Ile661Phe)
c.2242A>T (p.Ile748Phe)
c.2212A>T (p.Ile738Phe)
c.1729A>T (p.Ile577Phe)
c.1624A>T (p.Ile542Phe)
3g.122284167T>ACA354159057CASRc.1982T>A (p.Ile661Asn)
c.2243T>A (p.Ile748Asn)
c.2213T>A (p.Ile738Asn)
c.1730T>A (p.Ile577Asn)
c.1625T>A (p.Ile542Asn)
3g.122284167T>CCA2569794CASRc.1982T>C (p.Ile661Thr)
c.2243T>C (p.Ile748Thr)
c.2213T>C (p.Ile738Thr)
c.1730T>C (p.Ile577Thr)
c.1625T>C (p.Ile542Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284167T>GCA354159059CASRc.1982T>G (p.Ile661Ser)
c.2243T>G (p.Ile748Ser)
c.2213T>G (p.Ile738Ser)
c.1730T>G (p.Ile577Ser)
c.1625T>G (p.Ile542Ser)
3g.122284167T=CA1397871801CASRc.1982T= (p.Ile661=)
c.2243T= (p.Ile748=)
c.2213T= (p.Ile738=)
c.1730T= (p.Ile577=)
c.1625T= (p.Ile542=)
3g.122284168C>ACA435424715CASRc.1983C>A (p.Ile661=)
c.2244C>A (p.Ile748=)
c.2214C>A (p.Ile738=)
c.1731C>A (p.Ile577=)
c.1626C>A (p.Ile542=)
 COSMIC
3g.122284168C>GCA354159061CASRc.1983C>G (p.Ile661Met)
c.2244C>G (p.Ile748Met)
c.2214C>G (p.Ile738Met)
c.1731C>G (p.Ile577Met)
c.1626C>G (p.Ile542Met)
3g.122284168C>TCA435424714CASRc.1983C>T (p.Ile661=)
c.2244C>T (p.Ile748=)
c.2214C>T (p.Ile738=)
c.1731C>T (p.Ile577=)
c.1626C>T (p.Ile542=)
3g.122284169T>ACA354159067CASRc.1984T>A (p.Cys662Ser)
c.2245T>A (p.Cys749Ser)
c.2215T>A (p.Cys739Ser)
c.1732T>A (p.Cys578Ser)
c.1627T>A (p.Cys543Ser)
3g.122284169T>CCA354159065CASRc.1984T>C (p.Cys662Arg)
c.2245T>C (p.Cys749Arg)
c.2215T>C (p.Cys739Arg)
c.1732T>C (p.Cys578Arg)
c.1627T>C (p.Cys543Arg)
3g.122284169T>GCA354159063CASRc.1984T>G (p.Cys662Gly)
c.2245T>G (p.Cys749Gly)
c.2215T>G (p.Cys739Gly)
c.1732T>G (p.Cys578Gly)
c.1627T>G (p.Cys543Gly)
3g.122284170G>ACA2569795CASRc.1985G>A (p.Cys662Tyr)
c.2246G>A (p.Cys749Tyr)
c.2216G>A (p.Cys739Tyr)
c.1733G>A (p.Cys578Tyr)
c.1628G>A (p.Cys543Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284170G>CCA354159070CASRc.1985G>C (p.Cys662Ser)
c.2246G>C (p.Cys749Ser)
c.2216G>C (p.Cys739Ser)
c.1733G>C (p.Cys578Ser)
c.1628G>C (p.Cys543Ser)
 ClinVar dbSNP
3g.122284170G=CA1397871802CASRc.1985G= (p.Cys662=)
c.2246G= (p.Cys749=)
c.2216G= (p.Cys739=)
c.1733G= (p.Cys578=)
c.1628G= (p.Cys543=)
3g.122284170G>TCA354159073CASRc.1985G>T (p.Cys662Phe)
c.2246G>T (p.Cys749Phe)
c.2216G>T (p.Cys739Phe)
c.1733G>T (p.Cys578Phe)
c.1628G>T (p.Cys543Phe)
3g.122284171T>ACA354159075CASRc.1986T>A (p.Cys662Ter)
c.2247T>A (p.Cys749Ter)
c.2217T>A (p.Cys739Ter)
c.1734T>A (p.Cys578Ter)
c.1629T>A (p.Cys543Ter)
3g.122284171T>CCA435424720CASRc.1986T>C (p.Cys662=)
c.2247T>C (p.Cys749=)
c.2217T>C (p.Cys739=)
c.1734T>C (p.Cys578=)
c.1629T>C (p.Cys543=)
3g.122284171T>GCA354159077CASRc.1986T>G (p.Cys662Trp)
c.2247T>G (p.Cys749Trp)
c.2217T>G (p.Cys739Trp)
c.1734T>G (p.Cys578Trp)
c.1629T>G (p.Cys543Trp)
3g.122284172G>ACA354159080CASRc.1987G>A (p.Val663Met)
c.2248G>A (p.Val750Met)
c.2218G>A (p.Val740Met)
c.1735G>A (p.Val579Met)
c.1630G>A (p.Val544Met)
3g.122284172G>CCA354159079CASRc.1987G>C (p.Val663Leu)
c.2248G>C (p.Val750Leu)
c.2218G>C (p.Val740Leu)
c.1735G>C (p.Val579Leu)
c.1630G>C (p.Val544Leu)
3g.122284172G>TCA354159078CASRc.1987G>T (p.Val663Leu)
c.2248G>T (p.Val750Leu)
c.2218G>T (p.Val740Leu)
c.1735G>T (p.Val579Leu)
c.1630G>T (p.Val544Leu)
3g.122284173T>ACA354159082CASRc.1988T>A (p.Val663Glu)
c.2249T>A (p.Val750Glu)
c.2219T>A (p.Val740Glu)
c.1736T>A (p.Val579Glu)
c.1631T>A (p.Val544Glu)
3g.122284173T>CCA354159083CASRc.1988T>C (p.Val663Ala)
c.2249T>C (p.Val750Ala)
c.2219T>C (p.Val740Ala)
c.1736T>C (p.Val579Ala)
c.1631T>C (p.Val544Ala)
3g.122284173T>GCA354159084CASRc.1988T>G (p.Val663Gly)
c.2249T>G (p.Val750Gly)
c.2219T>G (p.Val740Gly)
c.1736T>G (p.Val579Gly)
c.1631T>G (p.Val544Gly)
3g.122284174G>ACA435424726CASRc.1989G>A (p.Val663=)
c.2250G>A (p.Val750=)
c.2220G>A (p.Val740=)
c.1737G>A (p.Val579=)
c.1632G>A (p.Val544=)
3g.122284174G>CCA435424724CASRc.1989G>C (p.Val663=)
c.2250G>C (p.Val750=)
c.2220G>C (p.Val740=)
c.1737G>C (p.Val579=)
c.1632G>C (p.Val544=)
 ClinVar
3g.122284174G>TCA435424727CASRc.1989G>T (p.Val663=)
c.2250G>T (p.Val750=)
c.2220G>T (p.Val740=)
c.1737G>T (p.Val579=)
c.1632G>T (p.Val544=)
3g.122284175A>CCA354159087CASRc.1990A>C (p.Ile664Leu)
c.2251A>C (p.Ile751Leu)
c.2221A>C (p.Ile741Leu)
c.1738A>C (p.Ile580Leu)
c.1633A>C (p.Ile545Leu)
3g.122284175A>GCA354159088CASRc.1990A>G (p.Ile664Val)
c.2251A>G (p.Ile751Val)
c.2221A>G (p.Ile741Val)
c.1738A>G (p.Ile580Val)
c.1633A>G (p.Ile545Val)
3g.122284175A>TCA354159090CASRc.1990A>T (p.Ile664Phe)
c.2251A>T (p.Ile751Phe)
c.2221A>T (p.Ile741Phe)
c.1738A>T (p.Ile580Phe)
c.1633A>T (p.Ile545Phe)
3g.122284176T>ACA354159093CASRc.1991T>A (p.Ile664Asn)
c.2252T>A (p.Ile751Asn)
c.2222T>A (p.Ile741Asn)
c.1739T>A (p.Ile580Asn)
c.1634T>A (p.Ile545Asn)
3g.122284176T>CCA354159096CASRc.1991T>C (p.Ile664Thr)
c.2252T>C (p.Ile751Thr)
c.2222T>C (p.Ile741Thr)
c.1739T>C (p.Ile580Thr)
c.1634T>C (p.Ile545Thr)
3g.122284176T>GCA354159094CASRc.1991T>G (p.Ile664Ser)
c.2252T>G (p.Ile751Ser)
c.2222T>G (p.Ile741Ser)
c.1739T>G (p.Ile580Ser)
c.1634T>G (p.Ile545Ser)
3g.122284177C>ACA435424729CASRc.1992C>A (p.Ile664=)
c.2253C>A (p.Ile751=)
c.2223C>A (p.Ile741=)
c.1740C>A (p.Ile580=)
c.1635C>A (p.Ile545=)
3g.122284177C>GCA354159098CASRc.1992C>G (p.Ile664Met)
c.2253C>G (p.Ile751Met)
c.2223C>G (p.Ile741Met)
c.1740C>G (p.Ile580Met)
c.1635C>G (p.Ile545Met)
3g.122284177C>TCA435424728CASRc.1992C>T (p.Ile664=)
c.2253C>T (p.Ile751=)
c.2223C>T (p.Ile741=)
c.1740C>T (p.Ile580=)
c.1635C>T (p.Ile545=)
3g.122284178T>ACA354159101CASRc.1993T>A (p.Trp665Arg)
c.2254T>A (p.Trp752Arg)
c.2224T>A (p.Trp742Arg)
c.1741T>A (p.Trp581Arg)
c.1636T>A (p.Trp546Arg)
3g.122284178T>CCA354159102CASRc.1993T>C (p.Trp665Arg)
c.2254T>C (p.Trp752Arg)
c.2224T>C (p.Trp742Arg)
c.1741T>C (p.Trp581Arg)
c.1636T>C (p.Trp546Arg)
3g.122284178T>GCA354159105CASRc.1993T>G (p.Trp665Gly)
c.2254T>G (p.Trp752Gly)
c.2224T>G (p.Trp742Gly)
c.1741T>G (p.Trp581Gly)
c.1636T>G (p.Trp546Gly)
3g.122284179G>ACA354159107CASRc.1994G>A (p.Trp665Ter)
c.2255G>A (p.Trp752Ter)
c.2225G>A (p.Trp742Ter)
c.1742G>A (p.Trp581Ter)
c.1637G>A (p.Trp546Ter)
3g.122284179G>CCA354159108CASRc.1994G>C (p.Trp665Ser)
c.2255G>C (p.Trp752Ser)
c.2225G>C (p.Trp742Ser)
c.1742G>C (p.Trp581Ser)
c.1637G>C (p.Trp546Ser)
3g.122284179G>TCA354159110CASRc.1994G>T (p.Trp665Leu)
c.2255G>T (p.Trp752Leu)
c.2225G>T (p.Trp742Leu)
c.1742G>T (p.Trp581Leu)
c.1637G>T (p.Trp546Leu)
3g.122284180G>ACA354159112CASRc.1995G>A (p.Trp665Ter)
c.2256G>A (p.Trp752Ter)
c.2226G>A (p.Trp742Ter)
c.1743G>A (p.Trp581Ter)
c.1638G>A (p.Trp546Ter)
 gnomAD v4
3g.122284180G>CCA354159113CASRc.1995G>C (p.Trp665Cys)
c.2256G>C (p.Trp752Cys)
c.2226G>C (p.Trp742Cys)
c.1743G>C (p.Trp581Cys)
c.1638G>C (p.Trp546Cys)
3g.122284180G>TCA354159116CASRc.1995G>T (p.Trp665Cys)
c.2256G>T (p.Trp752Cys)
c.2226G>T (p.Trp742Cys)
c.1743G>T (p.Trp581Cys)
c.1638G>T (p.Trp546Cys)
3g.122284181C>ACA354159122CASRc.1996C>A (p.Leu666Ile)
c.2257C>A (p.Leu753Ile)
c.2227C>A (p.Leu743Ile)
c.1744C>A (p.Leu582Ile)
c.1639C>A (p.Leu547Ile)
3g.122284181C>GCA354159120CASRc.1996C>G (p.Leu666Val)
c.2257C>G (p.Leu753Val)
c.2227C>G (p.Leu743Val)
c.1744C>G (p.Leu582Val)
c.1639C>G (p.Leu547Val)
3g.122284181C>TCA354159118CASRc.1996C>T (p.Leu666Phe)
c.2257C>T (p.Leu753Phe)
c.2227C>T (p.Leu743Phe)
c.1744C>T (p.Leu582Phe)
c.1639C>T (p.Leu547Phe)
3g.122284182T>ACA354159123CASRc.1997T>A (p.Leu666His)
c.2258T>A (p.Leu753His)
c.2228T>A (p.Leu743His)
c.1745T>A (p.Leu582His)
c.1640T>A (p.Leu547His)
3g.122284182T>CCA354159127CASRc.1997T>C (p.Leu666Pro)
c.2258T>C (p.Leu753Pro)
c.2228T>C (p.Leu743Pro)
c.1745T>C (p.Leu582Pro)
c.1640T>C (p.Leu547Pro)
3g.122284182T>GCA354159125CASRc.1997T>G (p.Leu666Arg)
c.2258T>G (p.Leu753Arg)
c.2228T>G (p.Leu743Arg)
c.1745T>G (p.Leu582Arg)
c.1640T>G (p.Leu547Arg)
3g.122284183C>ACA435424732CASRc.1998C>A (p.Leu666=)
c.2259C>A (p.Leu753=)
c.2229C>A (p.Leu743=)
c.1746C>A (p.Leu582=)
c.1641C>A (p.Leu547=)
3g.122284183C=CA1397871803CASRc.1998C= (p.Leu666=)
c.2259C= (p.Leu753=)
c.2229C= (p.Leu743=)
c.1746C= (p.Leu582=)
c.1641C= (p.Leu547=)
3g.122284183C>GCA435424733CASRc.1998C>G (p.Leu666=)
c.2259C>G (p.Leu753=)
c.2229C>G (p.Leu743=)
c.1746C>G (p.Leu582=)
c.1641C>G (p.Leu547=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122284183C>TCA82748819CASRc.1998C>T (p.Leu666=)
c.2259C>T (p.Leu753=)
c.2229C>T (p.Leu743=)
c.1746C>T (p.Leu582=)
c.1641C>T (p.Leu547=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122284183_122284184insAACA2542307779CASRc.1998_1999insAA (p.Tyr667AsnfsTer?)
c.2259_2260insAA (p.Tyr754AsnfsTer?)
c.2229_2230insAA (p.Tyr744AsnfsTer?)
c.1746_1747insAA (p.Tyr583AsnfsTer?)
c.1641_1642insAA (p.Tyr548AsnfsTer?)
3g.122284184T>ACA354159130CASRc.1999T>A (p.Tyr667Asn)
c.2260T>A (p.Tyr754Asn)
c.2230T>A (p.Tyr744Asn)
c.1747T>A (p.Tyr583Asn)
c.1642T>A (p.Tyr548Asn)
3g.122284184T>CCA354159132CASRc.1999T>C (p.Tyr667His)
c.2260T>C (p.Tyr754His)
c.2230T>C (p.Tyr744His)
c.1747T>C (p.Tyr583His)
c.1642T>C (p.Tyr548His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122284184T>GCA354159134CASRc.1999T>G (p.Tyr667Asp)
c.2260T>G (p.Tyr754Asp)
c.2230T>G (p.Tyr744Asp)
c.1747T>G (p.Tyr583Asp)
c.1642T>G (p.Tyr548Asp)
3g.122284184T=CA1397871805CASRc.1999T= (p.Tyr667=)
c.2260T= (p.Tyr754=)
c.2230T= (p.Tyr744=)
c.1747T= (p.Tyr583=)
c.1642T= (p.Tyr548=)
3g.122284185A=CA1397871806CASRc.2000A= (p.Tyr667=)
c.2261A= (p.Tyr754=)
c.2231A= (p.Tyr744=)
c.1748A= (p.Tyr583=)
c.1643A= (p.Tyr548=)
3g.122284185A>CCA354159136CASRc.2000A>C (p.Tyr667Ser)
c.2261A>C (p.Tyr754Ser)
c.2231A>C (p.Tyr744Ser)
c.1748A>C (p.Tyr583Ser)
c.1643A>C (p.Tyr548Ser)
 gnomAD v4
3g.122284185A>GCA354159138CASRc.2000A>G (p.Tyr667Cys)
c.2261A>G (p.Tyr754Cys)
c.2231A>G (p.Tyr744Cys)
c.1748A>G (p.Tyr583Cys)
c.1643A>G (p.Tyr548Cys)
3g.122284185A>TCA2569796CASRc.2000A>T (p.Tyr667Phe)
c.2261A>T (p.Tyr754Phe)
c.2231A>T (p.Tyr744Phe)
c.1748A>T (p.Tyr583Phe)
c.1643A>T (p.Tyr548Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284186C>ACA354159141CASRc.2001C>A (p.Tyr667Ter)
c.2262C>A (p.Tyr754Ter)
c.2232C>A (p.Tyr744Ter)
c.1749C>A (p.Tyr583Ter)
c.1644C>A (p.Tyr548Ter)
3g.122284186C>GCA354159142CASRc.2001C>G (p.Tyr667Ter)
c.2262C>G (p.Tyr754Ter)
c.2232C>G (p.Tyr744Ter)
c.1749C>G (p.Tyr583Ter)
c.1644C>G (p.Tyr548Ter)
3g.122284186C>TCA435424735CASRc.2001C>T (p.Tyr667=)
c.2262C>T (p.Tyr754=)
c.2232C>T (p.Tyr744=)
c.1749C>T (p.Tyr583=)
c.1644C>T (p.Tyr548=)
 ClinVar
3g.122284187A>CCA354159145CASRc.2002A>C (p.Thr668Pro)
c.2263A>C (p.Thr755Pro)
c.2233A>C (p.Thr745Pro)
c.1750A>C (p.Thr584Pro)
c.1645A>C (p.Thr549Pro)
3g.122284187A>GCA354159147CASRc.2002A>G (p.Thr668Ala)
c.2263A>G (p.Thr755Ala)
c.2233A>G (p.Thr745Ala)
c.1750A>G (p.Thr584Ala)
c.1645A>G (p.Thr549Ala)
 gnomAD v4
3g.122284187A>TCA354159150CASRc.2002A>T (p.Thr668Ser)
c.2263A>T (p.Thr755Ser)
c.2233A>T (p.Thr745Ser)
c.1750A>T (p.Thr584Ser)
c.1645A>T (p.Thr549Ser)
3g.122284188C>ACA354159152CASRc.2003C>A (p.Thr668Asn)
c.2264C>A (p.Thr755Asn)
c.2234C>A (p.Thr745Asn)
c.1751C>A (p.Thr584Asn)
c.1646C>A (p.Thr549Asn)
 ClinVar
3g.122284188C>GCA354159154CASRc.2003C>G (p.Thr668Ser)
c.2264C>G (p.Thr755Ser)
c.2234C>G (p.Thr745Ser)
c.1751C>G (p.Thr584Ser)
c.1646C>G (p.Thr549Ser)
3g.122284188C>TCA354159153CASRc.2003C>T (p.Thr668Ile)
c.2264C>T (p.Thr755Ile)
c.2234C>T (p.Thr745Ile)
c.1751C>T (p.Thr584Ile)
c.1646C>T (p.Thr549Ile)
 ClinVar gnomAD v4
3g.122284188_122284189delCA2569797172CASRc.2003_2004del (p.Thr668SerfsTer14)
c.2264_2265del (p.Thr755SerfsTer14)
c.2234_2235del (p.Thr745SerfsTer14)
c.1751_1752del (p.Thr584SerfsTer14)
c.1646_1647del (p.Thr549SerfsTer14)
3g.122284189C>ACA435424738CASRc.2004C>A (p.Thr668=)
c.2265C>A (p.Thr755=)
c.2235C>A (p.Thr745=)
c.1752C>A (p.Thr584=)
c.1647C>A (p.Thr549=)
 dbSNP
3g.122284189C=CA1397871807CASRc.2004C= (p.Thr668=)
c.2265C= (p.Thr755=)
c.2235C= (p.Thr745=)
c.1752C= (p.Thr584=)
c.1647C= (p.Thr549=)
3g.122284189C>GCA2569797CASRc.2004C>G (p.Thr668=)
c.2265C>G (p.Thr755=)
c.2235C>G (p.Thr745=)
c.1752C>G (p.Thr584=)
c.1647C>G (p.Thr549=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284189C>TCA2569798CASRc.2004C>T (p.Thr668=)
c.2265C>T (p.Thr755=)
c.2235C>T (p.Thr745=)
c.1752C>T (p.Thr584=)
c.1647C>T (p.Thr549=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
3g.122284190G>ACA2569799CASRc.2005G>A (p.Ala669Thr)
c.2266G>A (p.Ala756Thr)
c.2236G>A (p.Ala746Thr)
c.1753G>A (p.Ala585Thr)
c.1648G>A (p.Ala550Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284190G>CCA354159155CASRc.2005G>C (p.Ala669Pro)
c.2266G>C (p.Ala756Pro)
c.2236G>C (p.Ala746Pro)
c.1753G>C (p.Ala585Pro)
c.1648G>C (p.Ala550Pro)
3g.122284190G=CA1397871808CASRc.2005G= (p.Ala669=)
c.2266G= (p.Ala756=)
c.2236G= (p.Ala746=)
c.1753G= (p.Ala585=)
c.1648G= (p.Ala550=)
3g.122284190G>TCA354159156CASRc.2005G>T (p.Ala669Ser)
c.2266G>T (p.Ala756Ser)
c.2236G>T (p.Ala746Ser)
c.1753G>T (p.Ala585Ser)
c.1648G>T (p.Ala550Ser)
 gnomAD v4
3g.122284191C>ACA354159157CASRc.2006C>A (p.Ala669Glu)
c.2267C>A (p.Ala756Glu)
c.2237C>A (p.Ala746Glu)
c.1754C>A (p.Ala585Glu)
c.1649C>A (p.Ala550Glu)
3g.122284191C=CA1397871809CASRc.2006C= (p.Ala669=)
c.2267C= (p.Ala756=)
c.2237C= (p.Ala746=)
c.1754C= (p.Ala585=)
c.1649C= (p.Ala550=)
3g.122284191C>GCA354159158CASRc.2006C>G (p.Ala669Gly)
c.2267C>G (p.Ala756Gly)
c.2237C>G (p.Ala746Gly)
c.1754C>G (p.Ala585Gly)
c.1649C>G (p.Ala550Gly)
3g.122284191C>TCA2569800CASRc.2006C>T (p.Ala669Val)
c.2267C>T (p.Ala756Val)
c.2237C>T (p.Ala746Val)
c.1754C>T (p.Ala585Val)
c.1649C>T (p.Ala550Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284192G>ACA2569801CASRc.2007G>A (p.Ala669=)
c.2268G>A (p.Ala756=)
c.2238G>A (p.Ala746=)
c.1755G>A (p.Ala585=)
c.1650G>A (p.Ala550=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122284192G>CCA435424745CASRc.2007G>C (p.Ala669=)
c.2268G>C (p.Ala756=)
c.2238G>C (p.Ala746=)
c.1755G>C (p.Ala585=)
c.1650G>C (p.Ala550=)
 ClinVar
3g.122284192G=CA1397871823CASRc.2007G= (p.Ala669=)
c.2268G= (p.Ala756=)
c.2238G= (p.Ala746=)
c.1755G= (p.Ala585=)
c.1650G= (p.Ala550=)
3g.122284192G>TCA2569802CASRc.2007G>T (p.Ala669=)
c.2268G>T (p.Ala756=)
c.2238G>T (p.Ala746=)
c.1755G>T (p.Ala585=)
c.1650G>T (p.Ala550=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284193C>ACA354159160CASRc.2008C>A (p.Pro670Thr)
c.2269C>A (p.Pro757Thr)
c.2239C>A (p.Pro747Thr)
c.1756C>A (p.Pro586Thr)
c.1651C>A (p.Pro551Thr)
 gnomAD v4
3g.122284193C=CA1397871824CASRc.2008C= (p.Pro670=)
c.2269C= (p.Pro757=)
c.2239C= (p.Pro747=)
c.1756C= (p.Pro586=)
c.1651C= (p.Pro551=)
3g.122284193C>GCA354159161CASRc.2008C>G (p.Pro670Ala)
c.2269C>G (p.Pro757Ala)
c.2239C>G (p.Pro747Ala)
c.1756C>G (p.Pro586Ala)
c.1651C>G (p.Pro551Ala)
 ClinVar dbSNP
3g.122284193C>TCA354159159CASRc.2008C>T (p.Pro670Ser)
c.2269C>T (p.Pro757Ser)
c.2239C>T (p.Pro747Ser)
c.1756C>T (p.Pro586Ser)
c.1651C>T (p.Pro551Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122284193_122284194delinsTCA2586972867CASRc.2008_2009delinsT (p.Pro670SerfsTer30)
c.2269_2270delinsT (p.Pro757SerfsTer30)
c.2239_2240delinsT (p.Pro747SerfsTer30)
c.1756_1757delinsT (p.Pro586SerfsTer30)
c.1651_1652delinsT (p.Pro551SerfsTer30)
3g.122284197dupCA545962752CASRc.2012dup (p.Ser672ValfsTer11)
c.2273dup (p.Ser759ValfsTer11)
c.2243dup (p.Ser749ValfsTer11)
c.2243dup (p.Ser749LeufsTer11)
c.2273dup (p.Ser759LeufsTer11)
c.1760dup (p.Ser588ValfsTer11)
c.1655dup (p.Ser553ValfsTer11)
 gnomAD v2 gnomAD v4
3g.122284194C>ACA354159162CASRc.2009C>A (p.Pro670His)
c.2270C>A (p.Pro757His)
c.2240C>A (p.Pro747His)
c.1757C>A (p.Pro586His)
c.1652C>A (p.Pro551His)
3g.122284194C>GCA354159163CASRc.2009C>G (p.Pro670Arg)
c.2270C>G (p.Pro757Arg)
c.2240C>G (p.Pro747Arg)
c.1757C>G (p.Pro586Arg)
c.1652C>G (p.Pro551Arg)
 ClinVar
3g.122284194C>TCA354159164CASRc.2009C>T (p.Pro670Leu)
c.2270C>T (p.Pro757Leu)
c.2240C>T (p.Pro747Leu)
c.1757C>T (p.Pro586Leu)
c.1652C>T (p.Pro551Leu)
 COSMIC
3g.122284194_122284196delinsCCCCA1397871827CASRc.2009_2011delinsCCC (p.Pro670=)
c.2270_2272delinsCCC (p.Pro757=)
c.2240_2242delinsCCC (p.Pro747=)
c.1757_1759delinsCCC (p.Pro586=)
c.1652_1654delinsCCC (p.Pro551=)
3g.122284195C>ACA435424753CASRc.2010C>A (p.Pro670=)
c.2271C>A (p.Pro757=)
c.2241C>A (p.Pro747=)
c.1758C>A (p.Pro586=)
c.1653C>A (p.Pro551=)
 dbSNP gnomAD v4
3g.122284195C=CA1397871831CASRc.2010C= (p.Pro670=)
c.2271C= (p.Pro757=)
c.2241C= (p.Pro747=)
c.1758C= (p.Pro586=)
c.1653C= (p.Pro551=)
3g.122284195C>GCA435424750CASRc.2010C>G (p.Pro670=)
c.2271C>G (p.Pro757=)
c.2241C>G (p.Pro747=)
c.1758C>G (p.Pro586=)
c.1653C>G (p.Pro551=)
 ClinVar dbSNP gnomAD v4
3g.122284195C>TCA435424755CASRc.2010C>T (p.Pro670=)
c.2271C>T (p.Pro757=)
c.2241C>T (p.Pro747=)
c.1758C>T (p.Pro586=)
c.1653C>T (p.Pro551=)
 gnomAD v4
3g.122284195_122284196delinsTCA351387CASRc.2010_2011delinsT (p.Pro671ArgfsTer29)
c.2271_2272delinsT (p.Pro758ArgfsTer29)
c.2241_2242delinsT (p.Pro748ArgfsTer29)
c.2241_2242delinsT (p.Ser749GlnfsTer28)
c.2271_2272delinsT (p.Ser759GlnfsTer28)
c.1758_1759delinsT (p.Pro587ArgfsTer29)
c.1653_1654delinsT (p.Pro552ArgfsTer29)
 ClinVar dbSNP
3g.122284196C>ACA354159165CASRc.2011C>A (p.Pro671Thr)
c.2272C>A (p.Pro758Thr)
c.2242C>A (p.Pro748Thr)
c.1759C>A (p.Pro587Thr)
c.1654C>A (p.Pro552Thr)
3g.122284196C=CA1397871839CASRc.2011C= (p.Pro671=)
c.2272C= (p.Pro758=)
c.2242C= (p.Pro748=)
c.1759C= (p.Pro587=)
c.1654C= (p.Pro552=)
3g.122284196C>GCA354159166CASRc.2011C>G (p.Pro671Ala)
c.2272C>G (p.Pro758Ala)
c.2242C>G (p.Pro748Ala)
c.1759C>G (p.Pro587Ala)
c.1654C>G (p.Pro552Ala)
 dbSNP
3g.122284196C>TCA354159167CASRc.2011C>T (p.Pro671Ser)
c.2272C>T (p.Pro758Ser)
c.2242C>T (p.Pro748Ser)
c.1759C>T (p.Pro587Ser)
c.1654C>T (p.Pro552Ser)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122284196_122284197insGCA82748855CASRc.2011_2012insG (p.Pro671ArgfsTer12)
c.2272_2273insG (p.Pro758ArgfsTer12)
c.2242_2243insG (p.Pro748ArgfsTer12)
c.1759_1760insG (p.Pro587ArgfsTer12)
c.1654_1655insG (p.Pro552ArgfsTer12)
3g.122284197C>ACA213582CASRc.2012C>A (p.Pro671Gln)
c.2273C>A (p.Pro758Gln)
c.2243C>A (p.Pro748Gln)
c.2243C>A (p.Pro748His)
c.2273C>A (p.Pro758His)
c.1760C>A (p.Pro587Gln)
c.1655C>A (p.Pro552Gln)
 ClinVar dbSNP gnomAD v4
3g.122284197C=CA1397871864CASRc.2012C= (p.Pro671=)
c.2273C= (p.Pro758=)
c.2243C= (p.Pro748=)
c.1760C= (p.Pro587=)
c.1655C= (p.Pro552=)
3g.122284197C>GCA354159168CASRc.2012C>G (p.Pro671Arg)
c.2273C>G (p.Pro758Arg)
c.2243C>G (p.Pro748Arg)
c.1760C>G (p.Pro587Arg)
c.1655C>G (p.Pro552Arg)
 ClinVar dbSNP gnomAD v4
3g.122284197C>TCA354159169CASRc.2012C>T (p.Pro671Leu)
c.2273C>T (p.Pro758Leu)
c.2243C>T (p.Pro748Leu)
c.1760C>T (p.Pro587Leu)
c.1655C>T (p.Pro552Leu)
 ClinVar dbSNP gnomAD v4
3g.122284197_122284198delinsACCA213581CASRc.2012_2013delinsAC (p.Pro671His)
c.2273_2274delinsAC (p.Pro758His)
c.2243_2244delinsAC (p.Pro748His)
c.1760_1761delinsAC (p.Pro587His)
c.1655_1656delinsAC (p.Pro552His)
3g.122284197_122284198delinsCGCA1397871858CASRc.2012_2013delinsCG (p.Pro671=)
c.2273_2274delinsCG (p.Pro758=)
c.2243_2244delinsCG (p.Pro748=)
c.1760_1761delinsCG (p.Pro587=)
c.1655_1656delinsCG (p.Pro552=)
3g.122284198delCA435424761CASRc.2013del (p.Ser672GlnfsTer28)
c.2274del (p.Ser759GlnfsTer28)
c.2244del (p.Ser749GlnfsTer28)
c.1761del (p.Ser588GlnfsTer28)
c.1656del (p.Ser553GlnfsTer28)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.122284198G>ACA435424757CASRc.2013G>A (p.Pro671=)
c.2274G>A (p.Pro758=)
c.2244G>A (p.Pro748=)
c.1761G>A (p.Pro587=)
c.1656G>A (p.Pro552=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122284198G>CCA179844CASRc.2013G>C (p.Pro671=)
c.2274G>C (p.Pro758=)
c.2244G>C (p.Pro748=)
c.1761G>C (p.Pro587=)
c.1656G>C (p.Pro552=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284198G=CA10582122CASRc.2013G= (p.Pro671=)
c.2274G= (p.Pro758=)
c.2244G= (p.Pro748=)
c.1761G= (p.Pro587=)
c.1656G= (p.Pro552=)
3g.122284198G>TCA435424760CASRc.2013G>T (p.Pro671=)
c.2274G>T (p.Pro758=)
c.2244G>T (p.Pro748=)
c.1761G>T (p.Pro587=)
c.1656G>T (p.Pro552=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122284198delinsCCCA915941532CASRc.2013delinsCC (p.Ser672LeufsTer11)
c.2274delinsCC (p.Ser759LeufsTer11)
c.2244delinsCC (p.Ser749LeufsTer11)
c.1761delinsCC (p.Ser588LeufsTer11)
c.1656delinsCC (p.Ser553LeufsTer11)
 ClinVar dbSNP
3g.122284198dupCA658657330CASRc.2013dup (p.Ser672ValfsTer11)
c.2274dup (p.Ser759ValfsTer11)
c.2244dup (p.Ser749ValfsTer11)
c.1761dup (p.Ser588ValfsTer11)
c.1656dup (p.Ser553ValfsTer11)
 dbSNP
3g.122284198_122284199delinsCGCA2573136461CASRc.2013_2014delinsCG (p.Ser672Ala)
c.2274_2275delinsCG (p.Ser759Ala)
c.2244_2245delinsCG (p.Ser749Ala)
c.1761_1762delinsCG (p.Ser588Ala)
c.1656_1657delinsCG (p.Ser553Ala)
 ClinVar dbSNP
3g.122284199T>ACA354159171CASRc.2014T>A (p.Ser672Thr)
c.2275T>A (p.Ser759Thr)
c.2245T>A (p.Ser749Thr)
c.1762T>A (p.Ser588Thr)
c.1657T>A (p.Ser553Thr)
3g.122284199T>CCA354159170CASRc.2014T>C (p.Ser672Pro)
c.2275T>C (p.Ser759Pro)
c.2245T>C (p.Ser749Pro)
c.1762T>C (p.Ser588Pro)
c.1657T>C (p.Ser553Pro)
3g.122284199T>GCA2569803CASRc.2014T>G (p.Ser672Ala)
c.2275T>G (p.Ser759Ala)
c.2245T>G (p.Ser749Ala)
c.1762T>G (p.Ser588Ala)
c.1657T>G (p.Ser553Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284199T=CA1397871886CASRc.2014T= (p.Ser672=)
c.2275T= (p.Ser759=)
c.2245T= (p.Ser749=)
c.1762T= (p.Ser588=)
c.1657T= (p.Ser553=)
3g.122284199_122284200delCA1052944786CASRc.2014_2015del (p.Ser672LysfsTer10)
c.2275_2276del (p.Ser759LysfsTer10)
c.2245_2246del (p.Ser749LysfsTer10)
c.1762_1763del (p.Ser588LysfsTer10)
c.1657_1658del (p.Ser553LysfsTer10)
 gnomAD v3 gnomAD v4
3g.122284200C>ACA354159172CASRc.2015C>A (p.Ser672Ter)
c.2276C>A (p.Ser759Ter)
c.2246C>A (p.Ser749Ter)
c.1763C>A (p.Ser588Ter)
c.1658C>A (p.Ser553Ter)
3g.122284200C>GCA354159173CASRc.2015C>G (p.Ser672Ter)
c.2276C>G (p.Ser759Ter)
c.2246C>G (p.Ser749Ter)
c.1763C>G (p.Ser588Ter)
c.1658C>G (p.Ser553Ter)
3g.122284200C>TCA354159174CASRc.2015C>T (p.Ser672Leu)
c.2276C>T (p.Ser759Leu)
c.2246C>T (p.Ser749Leu)
c.1763C>T (p.Ser588Leu)
c.1658C>T (p.Ser553Leu)
3g.122284201A=CA1397871888CASRc.2016A= (p.Ser672=)
c.2277A= (p.Ser759=)
c.2247A= (p.Ser749=)
c.1764A= (p.Ser588=)
c.1659A= (p.Ser553=)
3g.122284201A>CCA435424767CASRc.2016A>C (p.Ser672=)
c.2277A>C (p.Ser759=)
c.2247A>C (p.Ser749=)
c.1764A>C (p.Ser588=)
c.1659A>C (p.Ser553=)
 ClinVar dbSNP
3g.122284201A>GCA2569804CASRc.2016A>G (p.Ser672=)
c.2277A>G (p.Ser759=)
c.2247A>G (p.Ser749=)
c.1764A>G (p.Ser588=)
c.1659A>G (p.Ser553=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284201A>TCA435424768CASRc.2016A>T (p.Ser672=)
c.2277A>T (p.Ser759=)
c.2247A>T (p.Ser749=)
c.1764A>T (p.Ser588=)
c.1659A>T (p.Ser553=)
3g.122284202A>CCA354159175CASRc.2017A>C (p.Ser673Arg)
c.2278A>C (p.Ser760Arg)
c.2248A>C (p.Ser750Arg)
c.1765A>C (p.Ser589Arg)
c.1660A>C (p.Ser554Arg)
3g.122284202A>GCA354159176CASRc.2017A>G (p.Ser673Gly)
c.2278A>G (p.Ser760Gly)
c.2248A>G (p.Ser750Gly)
c.1765A>G (p.Ser589Gly)
c.1660A>G (p.Ser554Gly)
 ClinVar
3g.122284202A>TCA354159177CASRc.2017A>T (p.Ser673Cys)
c.2278A>T (p.Ser760Cys)
c.2248A>T (p.Ser750Cys)
c.1765A>T (p.Ser589Cys)
c.1660A>T (p.Ser554Cys)
3g.122284203G>ACA354159178CASRc.2018G>A (p.Ser673Asn)
c.2279G>A (p.Ser760Asn)
c.2249G>A (p.Ser750Asn)
c.1766G>A (p.Ser589Asn)
c.1661G>A (p.Ser554Asn)
3g.122284203G>CCA354159179CASRc.2018G>C (p.Ser673Thr)
c.2279G>C (p.Ser760Thr)
c.2249G>C (p.Ser750Thr)
c.1766G>C (p.Ser589Thr)
c.1661G>C (p.Ser554Thr)
3g.122284203G>TCA354159180CASRc.2018G>T (p.Ser673Ile)
c.2279G>T (p.Ser760Ile)
c.2249G>T (p.Ser750Ile)
c.1766G>T (p.Ser589Ile)
c.1661G>T (p.Ser554Ile)
3g.122284204C>ACA354159181CASRc.2019C>A (p.Ser673Arg)
c.2280C>A (p.Ser760Arg)
c.2250C>A (p.Ser750Arg)
c.1767C>A (p.Ser589Arg)
c.1662C>A (p.Ser554Arg)
 ClinVar dbSNP gnomAD v4
3g.122284204C=CA1397871895CASRc.2019C= (p.Ser673=)
c.2280C= (p.Ser760=)
c.2250C= (p.Ser750=)
c.1767C= (p.Ser589=)
c.1662C= (p.Ser554=)
3g.122284204C>GCA354159182CASRc.2019C>G (p.Ser673Arg)
c.2280C>G (p.Ser760Arg)
c.2250C>G (p.Ser750Arg)
c.1767C>G (p.Ser589Arg)
c.1662C>G (p.Ser554Arg)
3g.122284204C>TCA435424772CASRc.2019C>T (p.Ser673=)
c.2280C>T (p.Ser760=)
c.2250C>T (p.Ser750=)
c.1767C>T (p.Ser589=)
c.1662C>T (p.Ser554=)
 ClinVar dbSNP
3g.122284205T>ACA354159185CASRc.2020T>A (p.Tyr674Asn)
c.2281T>A (p.Tyr761Asn)
c.2251T>A (p.Tyr751Asn)
c.1768T>A (p.Tyr590Asn)
c.1663T>A (p.Tyr555Asn)
3g.122284205T>CCA354159184CASRc.2020T>C (p.Tyr674His)
c.2281T>C (p.Tyr761His)
c.2251T>C (p.Tyr751His)
c.1768T>C (p.Tyr590His)
c.1663T>C (p.Tyr555His)
3g.122284205T>GCA354159183CASRc.2020T>G (p.Tyr674Asp)
c.2281T>G (p.Tyr761Asp)
c.2251T>G (p.Tyr751Asp)
c.1768T>G (p.Tyr590Asp)
c.1663T>G (p.Tyr555Asp)
3g.122284206A>CCA354159186CASRc.2021A>C (p.Tyr674Ser)
c.2282A>C (p.Tyr761Ser)
c.2252A>C (p.Tyr751Ser)
c.1769A>C (p.Tyr590Ser)
c.1664A>C (p.Tyr555Ser)
3g.122284206A>GCA354159188CASRc.2021A>G (p.Tyr674Cys)
c.2282A>G (p.Tyr761Cys)
c.2252A>G (p.Tyr751Cys)
c.1769A>G (p.Tyr590Cys)
c.1664A>G (p.Tyr555Cys)
 COSMIC
3g.122284206A>TCA354159187CASRc.2021A>T (p.Tyr674Phe)
c.2282A>T (p.Tyr761Phe)
c.2252A>T (p.Tyr751Phe)
c.1769A>T (p.Tyr590Phe)
c.1664A>T (p.Tyr555Phe)
3g.122284207C>ACA354159189CASRc.2022C>A (p.Tyr674Ter)
c.2283C>A (p.Tyr761Ter)
c.2253C>A (p.Tyr751Ter)
c.1770C>A (p.Tyr590Ter)
c.1665C>A (p.Tyr555Ter)
3g.122284207C=CA1397871897CASRc.2022C= (p.Tyr674=)
c.2283C= (p.Tyr761=)
c.2253C= (p.Tyr751=)
c.1770C= (p.Tyr590=)
c.1665C= (p.Tyr555=)
3g.122284207C>GCA354159190CASRc.2022C>G (p.Tyr674Ter)
c.2283C>G (p.Tyr761Ter)
c.2253C>G (p.Tyr751Ter)
c.1770C>G (p.Tyr590Ter)
c.1665C>G (p.Tyr555Ter)
3g.122284207C>TCA435424775CASRc.2022C>T (p.Tyr674=)
c.2283C>T (p.Tyr761=)
c.2253C>T (p.Tyr751=)
c.1770C>T (p.Tyr590=)
c.1665C>T (p.Tyr555=)
 ClinVar dbSNP gnomAD v4
3g.122284208delCA2499216412CASRc.2023del (p.Arg675AlafsTer25)
c.2284del (p.Arg762AlafsTer25)
c.2254del (p.Arg752AlafsTer25)
c.1771del (p.Arg591AlafsTer25)
c.1666del (p.Arg556AlafsTer25)
 ClinVar dbSNP
3g.122284208C>ACA354159191CASRc.2023C>A (p.Arg675Ser)
c.2284C>A (p.Arg762Ser)
c.2254C>A (p.Arg752Ser)
c.1771C>A (p.Arg591Ser)
c.1666C>A (p.Arg556Ser)
 ClinVar dbSNP
3g.122284208C=CA1397871904CASRc.2023C= (p.Arg675=)
c.2284C= (p.Arg762=)
c.2254C= (p.Arg752=)
c.1771C= (p.Arg591=)
c.1666C= (p.Arg556=)
3g.122284208C>GCA354159192CASRc.2023C>G (p.Arg675Gly)
c.2284C>G (p.Arg762Gly)
c.2254C>G (p.Arg752Gly)
c.1771C>G (p.Arg591Gly)
c.1666C>G (p.Arg556Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122284208C>TCA213584CASRc.2023C>T (p.Arg675Cys)
c.2284C>T (p.Arg762Cys)
c.2254C>T (p.Arg752Cys)
c.1771C>T (p.Arg591Cys)
c.1666C>T (p.Arg556Cys)
 ClinVar dbSNP gnomAD v4
3g.122284209G>ACA2569805CASRc.2024G>A (p.Arg675His)
c.2285G>A (p.Arg762His)
c.2255G>A (p.Arg752His)
c.1772G>A (p.Arg591His)
c.1667G>A (p.Arg556His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122284209G>CCA354159193CASRc.2024G>C (p.Arg675Pro)
c.2285G>C (p.Arg762Pro)
c.2255G>C (p.Arg752Pro)
c.1772G>C (p.Arg591Pro)
c.1667G>C (p.Arg556Pro)
 ClinVar dbSNP gnomAD v4
3g.122284209G=CA1397871911CASRc.2024G= (p.Arg675=)
c.2285G= (p.Arg762=)
c.2255G= (p.Arg752=)
c.1772G= (p.Arg591=)
c.1667G= (p.Arg556=)
3g.122284209G>TCA354159194CASRc.2024G>T (p.Arg675Leu)
c.2285G>T (p.Arg762Leu)
c.2255G>T (p.Arg752Leu)
c.1772G>T (p.Arg591Leu)
c.1667G>T (p.Arg556Leu)
 gnomAD v4
3g.122284210C>ACA435424776CASRc.2025C>A (p.Arg675=)
c.2286C>A (p.Arg762=)
c.2256C>A (p.Arg752=)
c.1773C>A (p.Arg591=)
c.1668C>A (p.Arg556=)
 ClinVar dbSNP
3g.122284210C=CA1397871913CASRc.2025C= (p.Arg675=)
c.2286C= (p.Arg762=)
c.2256C= (p.Arg752=)
c.1773C= (p.Arg591=)
c.1668C= (p.Arg556=)
3g.122284210C>GCA82748889CASRc.2025C>G (p.Arg675=)
c.2286C>G (p.Arg762=)
c.2256C>G (p.Arg752=)
c.1773C>G (p.Arg591=)
c.1668C>G (p.Arg556=)
 dbSNP
3g.122284210C>TCA435424777CASRc.2025C>T (p.Arg675=)
c.2286C>T (p.Arg762=)
c.2256C>T (p.Arg752=)
c.1773C>T (p.Arg591=)
c.1668C>T (p.Arg556=)
3g.122284211A>CCA354159195CASRc.2026A>C (p.Asn676His)
c.2287A>C (p.Asn763His)
c.2257A>C (p.Asn753His)
c.1774A>C (p.Asn592His)
c.1669A>C (p.Asn557His)
3g.122284211A>GCA354159196CASRc.2026A>G (p.Asn676Asp)
c.2287A>G (p.Asn763Asp)
c.2257A>G (p.Asn753Asp)
c.1774A>G (p.Asn592Asp)
c.1669A>G (p.Asn557Asp)
3g.122284211A>TCA354159197CASRc.2026A>T (p.Asn676Tyr)
c.2287A>T (p.Asn763Tyr)
c.2257A>T (p.Asn753Tyr)
c.1774A>T (p.Asn592Tyr)
c.1669A>T (p.Asn557Tyr)
3g.122284212A=CA1397871920CASRc.2027A= (p.Asn676=)
c.2288A= (p.Asn763=)
c.2258A= (p.Asn753=)
c.1775A= (p.Asn592=)
c.1670A= (p.Asn557=)
3g.122284212A>CCA354159200CASRc.2027A>C (p.Asn676Thr)
c.2288A>C (p.Asn763Thr)
c.2258A>C (p.Asn753Thr)
c.1775A>C (p.Asn592Thr)
c.1670A>C (p.Asn557Thr)
3g.122284212A>GCA354159199CASRc.2027A>G (p.Asn676Ser)
c.2288A>G (p.Asn763Ser)
c.2258A>G (p.Asn753Ser)
c.1775A>G (p.Asn592Ser)
c.1670A>G (p.Asn557Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122284212A>TCA354159198CASRc.2027A>T (p.Asn676Ile)
c.2288A>T (p.Asn763Ile)
c.2258A>T (p.Asn753Ile)
c.1775A>T (p.Asn592Ile)
c.1670A>T (p.Asn557Ile)
 gnomAD v4
3g.122284212_122284213delinsACCA1397871923CASRc.2027_2028delinsAC (p.Asn676=)
c.2288_2289delinsAC (p.Asn763=)
c.2258_2259delinsAC (p.Asn753=)
c.1775_1776delinsAC (p.Asn592=)
c.1670_1671delinsAC (p.Asn557=)
3g.122284213C>ACA354159201CASRc.2028C>A (p.Asn676Lys)
c.2289C>A (p.Asn763Lys)
c.2259C>A (p.Asn753Lys)
c.1776C>A (p.Asn592Lys)
c.1671C>A (p.Asn557Lys)
3g.122284213C>GCA354159202CASRc.2028C>G (p.Asn676Lys)
c.2289C>G (p.Asn763Lys)
c.2259C>G (p.Asn753Lys)
c.1776C>G (p.Asn592Lys)
c.1671C>G (p.Asn557Lys)
3g.122284213C>TCA435424783CASRc.2028C>T (p.Asn676=)
c.2289C>T (p.Asn763=)
c.2259C>T (p.Asn753=)
c.1776C>T (p.Asn592=)
c.1671C>T (p.Asn557=)
 gnomAD v4
3g.122284214delCA1397871925CASRc.2029del (p.Gln677ArgfsTer23)
c.2290del (p.Gln764ArgfsTer23)
c.2260del (p.Gln754ArgfsTer23)
c.1777del (p.Gln593ArgfsTer23)
c.1672del (p.Gln558ArgfsTer23)
 dbSNP
3g.122284214C>ACA354159203CASRc.2029C>A (p.Gln677Lys)
c.2290C>A (p.Gln764Lys)
c.2260C>A (p.Gln754Lys)
c.1777C>A (p.Gln593Lys)
c.1672C>A (p.Gln558Lys)
3g.122284214C>GCA354159205CASRc.2029C>G (p.Gln677Glu)
c.2290C>G (p.Gln764Glu)
c.2260C>G (p.Gln754Glu)
c.1777C>G (p.Gln593Glu)
c.1672C>G (p.Gln558Glu)
3g.122284214C>TCA354159207CASRc.2029C>T (p.Gln677Ter)
c.2290C>T (p.Gln764Ter)
c.2260C>T (p.Gln754Ter)
c.1777C>T (p.Gln593Ter)
c.1672C>T (p.Gln558Ter)
3g.122284215A=CA1397871928CASRc.2030A= (p.Gln677=)
c.2291A= (p.Gln764=)
c.2261A= (p.Gln754=)
c.1778A= (p.Gln593=)
c.1673A= (p.Gln558=)
3g.122284215A>CCA354159209CASRc.2030A>C (p.Gln677Pro)
c.2291A>C (p.Gln764Pro)
c.2261A>C (p.Gln754Pro)
c.1778A>C (p.Gln593Pro)
c.1673A>C (p.Gln558Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122284215A>GCA2569806CASRc.2030A>G (p.Gln677Arg)
c.2291A>G (p.Gln764Arg)
c.2261A>G (p.Gln754Arg)
c.1778A>G (p.Gln593Arg)
c.1673A>G (p.Gln558Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284215A>TCA354159210CASRc.2030A>T (p.Gln677Leu)
c.2291A>T (p.Gln764Leu)
c.2261A>T (p.Gln754Leu)
c.1778A>T (p.Gln593Leu)
c.1673A>T (p.Gln558Leu)
 gnomAD v4
3g.122284216G>ACA435424786CASRc.2031G>A (p.Gln677=)
c.2292G>A (p.Gln764=)
c.2262G>A (p.Gln754=)
c.1779G>A (p.Gln593=)
c.1674G>A (p.Gln558=)
 ClinVar dbSNP gnomAD v4
3g.122284216G>CCA354159212CASRc.2031G>C (p.Gln677His)
c.2292G>C (p.Gln764His)
c.2262G>C (p.Gln754His)
c.1779G>C (p.Gln593His)
c.1674G>C (p.Gln558His)
 dbSNP
3g.122284216G=CA1397871932CASRc.2031G= (p.Gln677=)
c.2292G= (p.Gln764=)
c.2262G= (p.Gln754=)
c.1779G= (p.Gln593=)
c.1674G= (p.Gln558=)
3g.122284216G>TCA354159214CASRc.2031G>T (p.Gln677His)
c.2292G>T (p.Gln764His)
c.2262G>T (p.Gln754His)
c.1779G>T (p.Gln593His)
c.1674G>T (p.Gln558His)
 gnomAD v4
3g.122284217G>ACA354159215CASRc.2032G>A (p.Glu678Lys)
c.2293G>A (p.Glu765Lys)
c.2263G>A (p.Glu755Lys)
c.1780G>A (p.Glu594Lys)
c.1675G>A (p.Glu559Lys)
3g.122284217G>CCA354159217CASRc.2032G>C (p.Glu678Gln)
c.2293G>C (p.Glu765Gln)
c.2263G>C (p.Glu755Gln)
c.1780G>C (p.Glu594Gln)
c.1675G>C (p.Glu559Gln)
3g.122284217G>TCA354159218CASRc.2032G>T (p.Glu678Ter)
c.2293G>T (p.Glu765Ter)
c.2263G>T (p.Glu755Ter)
c.1780G>T (p.Glu594Ter)
c.1675G>T (p.Glu559Ter)
3g.122284218A=CA1397871935CASRc.2033A= (p.Glu678=)
c.2294A= (p.Glu765=)
c.2264A= (p.Glu755=)
c.1781A= (p.Glu594=)
c.1676A= (p.Glu559=)
3g.122284218A>CCA354159223CASRc.2033A>C (p.Glu678Ala)
c.2294A>C (p.Glu765Ala)
c.2264A>C (p.Glu755Ala)
c.1781A>C (p.Glu594Ala)
c.1676A>C (p.Glu559Ala)
3g.122284218A>GCA354159225CASRc.2033A>G (p.Glu678Gly)
c.2294A>G (p.Glu765Gly)
c.2264A>G (p.Glu755Gly)
c.1781A>G (p.Glu594Gly)
c.1676A>G (p.Glu559Gly)
 ClinVar dbSNP
3g.122284218A>TCA354159221CASRc.2033A>T (p.Glu678Val)
c.2294A>T (p.Glu765Val)
c.2264A>T (p.Glu755Val)
c.1781A>T (p.Glu594Val)
c.1676A>T (p.Glu559Val)
3g.122284219G>ACA435424788CASRc.2034G>A (p.Glu678=)
c.2295G>A (p.Glu765=)
c.2265G>A (p.Glu755=)
c.1782G>A (p.Glu594=)
c.1677G>A (p.Glu559=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122284219G>CCA354159227CASRc.2034G>C (p.Glu678Asp)
c.2295G>C (p.Glu765Asp)
c.2265G>C (p.Glu755Asp)
c.1782G>C (p.Glu594Asp)
c.1677G>C (p.Glu559Asp)
 gnomAD v4
3g.122284219G=CA1397871942CASRc.2034G= (p.Glu678=)
c.2295G= (p.Glu765=)
c.2265G= (p.Glu755=)
c.1782G= (p.Glu594=)
c.1677G= (p.Glu559=)
3g.122284219G>TCA2569807CASRc.2034G>T (p.Glu678Asp)
c.2295G>T (p.Glu765Asp)
c.2265G>T (p.Glu755Asp)
c.1782G>T (p.Glu594Asp)
c.1677G>T (p.Glu559Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284220C>ACA354159230CASRc.2035C>A (p.Leu679Met)
c.2296C>A (p.Leu766Met)
c.2266C>A (p.Leu756Met)
c.1783C>A (p.Leu595Met)
c.1678C>A (p.Leu560Met)
3g.122284220C>GCA354159232CASRc.2035C>G (p.Leu679Val)
c.2296C>G (p.Leu766Val)
c.2266C>G (p.Leu756Val)
c.1783C>G (p.Leu595Val)
c.1678C>G (p.Leu560Val)
3g.122284220C>TCA435424791CASRc.2035C>T (p.Leu679=)
c.2296C>T (p.Leu766=)
c.2266C>T (p.Leu756=)
c.1783C>T (p.Leu595=)
c.1678C>T (p.Leu560=)
 gnomAD v4
3g.122284221T>ACA354159235CASRc.2036T>A (p.Leu679Gln)
c.2297T>A (p.Leu766Gln)
c.2267T>A (p.Leu756Gln)
c.1784T>A (p.Leu595Gln)
c.1679T>A (p.Leu560Gln)
3g.122284221T>CCA354159236CASRc.2036T>C (p.Leu679Pro)
c.2297T>C (p.Leu766Pro)
c.2267T>C (p.Leu756Pro)
c.1784T>C (p.Leu595Pro)
c.1679T>C (p.Leu560Pro)
3g.122284221T>GCA354159237CASRc.2036T>G (p.Leu679Arg)
c.2297T>G (p.Leu766Arg)
c.2267T>G (p.Leu756Arg)
c.1784T>G (p.Leu595Arg)
c.1679T>G (p.Leu560Arg)
3g.122284222G>ACA435424795CASRc.2037G>A (p.Leu679=)
c.2298G>A (p.Leu766=)
c.2268G>A (p.Leu756=)
c.1785G>A (p.Leu595=)
c.1680G>A (p.Leu560=)
 ClinVar dbSNP gnomAD v4
3g.122284222G>CCA435424796CASRc.2037G>C (p.Leu679=)
c.2298G>C (p.Leu766=)
c.2268G>C (p.Leu756=)
c.1785G>C (p.Leu595=)
c.1680G>C (p.Leu560=)
3g.122284222G>TCA435424797CASRc.2037G>T (p.Leu679=)
c.2298G>T (p.Leu766=)
c.2268G>T (p.Leu756=)
c.1785G>T (p.Leu595=)
c.1680G>T (p.Leu560=)
 ClinVar gnomAD v4
3g.122284223G>ACA354159239CASRc.2038G>A (p.Glu680Lys)
c.2299G>A (p.Glu767Lys)
c.2269G>A (p.Glu757Lys)
c.1786G>A (p.Glu596Lys)
c.1681G>A (p.Glu561Lys)
 ClinVar dbSNP
3g.122284223G>CCA354159242CASRc.2038G>C (p.Glu680Gln)
c.2299G>C (p.Glu767Gln)
c.2269G>C (p.Glu757Gln)
c.1786G>C (p.Glu596Gln)
c.1681G>C (p.Glu561Gln)
3g.122284223G=CA1397871945CASRc.2038G= (p.Glu680=)
c.2299G= (p.Glu767=)
c.2269G= (p.Glu757=)
c.1786G= (p.Glu596=)
c.1681G= (p.Glu561=)
3g.122284223G>TCA354159244CASRc.2038G>T (p.Glu680Ter)
c.2299G>T (p.Glu767Ter)
c.2269G>T (p.Glu757Ter)
c.1786G>T (p.Glu596Ter)
c.1681G>T (p.Glu561Ter)
3g.122284224A>CCA354159246CASRc.2039A>C (p.Glu680Ala)
c.2300A>C (p.Glu767Ala)
c.2270A>C (p.Glu757Ala)
c.1787A>C (p.Glu596Ala)
c.1682A>C (p.Glu561Ala)
3g.122284224A>GCA354159248CASRc.2039A>G (p.Glu680Gly)
c.2300A>G (p.Glu767Gly)
c.2270A>G (p.Glu757Gly)
c.1787A>G (p.Glu596Gly)
c.1682A>G (p.Glu561Gly)
3g.122284224A>TCA354159250CASRc.2039A>T (p.Glu680Val)
c.2300A>T (p.Glu767Val)
c.2270A>T (p.Glu757Val)
c.1787A>T (p.Glu596Val)
c.1682A>T (p.Glu561Val)
3g.122284225G>ACA435424799CASRc.2040G>A (p.Glu680=)
c.2301G>A (p.Glu767=)
c.2271G>A (p.Glu757=)
c.1788G>A (p.Glu596=)
c.1683G>A (p.Glu561=)
3g.122284225G>CCA354159252CASRc.2040G>C (p.Glu680Asp)
c.2301G>C (p.Glu767Asp)
c.2271G>C (p.Glu757Asp)
c.1788G>C (p.Glu596Asp)
c.1683G>C (p.Glu561Asp)
3g.122284225G>TCA354159253CASRc.2040G>T (p.Glu680Asp)
c.2301G>T (p.Glu767Asp)
c.2271G>T (p.Glu757Asp)
c.1788G>T (p.Glu596Asp)
c.1683G>T (p.Glu561Asp)
 gnomAD v4
3g.122284226G>ACA354159254CASRc.2041G>A (p.Asp681Asn)
c.2302G>A (p.Asp768Asn)
c.2272G>A (p.Asp758Asn)
c.1789G>A (p.Asp597Asn)
c.1684G>A (p.Asp562Asn)
 ClinVar dbSNP gnomAD v4
3g.122284226G>CCA354159256CASRc.2041G>C (p.Asp681His)
c.2302G>C (p.Asp768His)
c.2272G>C (p.Asp758His)
c.1789G>C (p.Asp597His)
c.1684G>C (p.Asp562His)
3g.122284226G=CA1397871947CASRc.2041G= (p.Asp681=)
c.2302G= (p.Asp768=)
c.2272G= (p.Asp758=)
c.1789G= (p.Asp597=)
c.1684G= (p.Asp562=)
3g.122284226G>TCA354159257CASRc.2041G>T (p.Asp681Tyr)
c.2302G>T (p.Asp768Tyr)
c.2272G>T (p.Asp758Tyr)
c.1789G>T (p.Asp597Tyr)
c.1684G>T (p.Asp562Tyr)
3g.122284227A>CCA354159259CASRc.2042A>C (p.Asp681Ala)
c.2303A>C (p.Asp768Ala)
c.2273A>C (p.Asp758Ala)
c.1790A>C (p.Asp597Ala)
c.1685A>C (p.Asp562Ala)
3g.122284227A>GCA354159261CASRc.2042A>G (p.Asp681Gly)
c.2303A>G (p.Asp768Gly)
c.2273A>G (p.Asp758Gly)
c.1790A>G (p.Asp597Gly)
c.1685A>G (p.Asp562Gly)
3g.122284227A>TCA354159263CASRc.2042A>T (p.Asp681Val)
c.2303A>T (p.Asp768Val)
c.2273A>T (p.Asp758Val)
c.1790A>T (p.Asp597Val)
c.1685A>T (p.Asp562Val)
3g.122284228T>ACA354159265CASRc.2043T>A (p.Asp681Glu)
c.2304T>A (p.Asp768Glu)
c.2274T>A (p.Asp758Glu)
c.1791T>A (p.Asp597Glu)
c.1686T>A (p.Asp562Glu)
3g.122284228T>CCA435424803CASRc.2043T>C (p.Asp681=)
c.2304T>C (p.Asp768=)
c.2274T>C (p.Asp758=)
c.1791T>C (p.Asp597=)
c.1686T>C (p.Asp562=)
 gnomAD v4
3g.122284228T>GCA354159267CASRc.2043T>G (p.Asp681Glu)
c.2304T>G (p.Asp768Glu)
c.2274T>G (p.Asp758Glu)
c.1791T>G (p.Asp597Glu)
c.1686T>G (p.Asp562Glu)
 gnomAD v3 gnomAD v4
3g.122284229G>ACA354159269CASRc.2044G>A (p.Glu682Lys)
c.2305G>A (p.Glu769Lys)
c.2275G>A (p.Glu759Lys)
c.1792G>A (p.Glu598Lys)
c.1687G>A (p.Glu563Lys)
 ClinVar
3g.122284229G>CCA354159272CASRc.2044G>C (p.Glu682Gln)
c.2305G>C (p.Glu769Gln)
c.2275G>C (p.Glu759Gln)
c.1792G>C (p.Glu598Gln)
c.1687G>C (p.Glu563Gln)
3g.122284229G>TCA354159274CASRc.2044G>T (p.Glu682Ter)
c.2305G>T (p.Glu769Ter)
c.2275G>T (p.Glu759Ter)
c.1792G>T (p.Glu598Ter)
c.1687G>T (p.Glu563Ter)
3g.122284230A>CCA354159278CASRc.2045A>C (p.Glu682Ala)
c.2306A>C (p.Glu769Ala)
c.2276A>C (p.Glu759Ala)
c.1793A>C (p.Glu598Ala)
c.1688A>C (p.Glu563Ala)
3g.122284230A>GCA354159279CASRc.2045A>G (p.Glu682Gly)
c.2306A>G (p.Glu769Gly)
c.2276A>G (p.Glu759Gly)
c.1793A>G (p.Glu598Gly)
c.1688A>G (p.Glu563Gly)
3g.122284230A>TCA354159276CASRc.2045A>T (p.Glu682Val)
c.2306A>T (p.Glu769Val)
c.2276A>T (p.Glu759Val)
c.1793A>T (p.Glu598Val)
c.1688A>T (p.Glu563Val)
3g.122284231G>ACA435424805CASRc.2046G>A (p.Glu682=)
c.2307G>A (p.Glu769=)
c.2277G>A (p.Glu759=)
c.1794G>A (p.Glu598=)
c.1689G>A (p.Glu563=)
 ClinVar gnomAD v4
3g.122284231G>CCA354159283CASRc.2046G>C (p.Glu682Asp)
c.2307G>C (p.Glu769Asp)
c.2277G>C (p.Glu759Asp)
c.1794G>C (p.Glu598Asp)
c.1689G>C (p.Glu563Asp)
3g.122284231G>TCA354159282CASRc.2046G>T (p.Glu682Asp)
c.2307G>T (p.Glu769Asp)
c.2277G>T (p.Glu759Asp)
c.1794G>T (p.Glu598Asp)
c.1689G>T (p.Glu563Asp)
3g.122284232A=CA1397871952CASRc.2047A= (p.Ile683=)
c.2308A= (p.Ile770=)
c.2278A= (p.Ile760=)
c.1795A= (p.Ile599=)
c.1690A= (p.Ile564=)
3g.122284232A>CCA354159286CASRc.2047A>C (p.Ile683Leu)
c.2308A>C (p.Ile770Leu)
c.2278A>C (p.Ile760Leu)
c.1795A>C (p.Ile599Leu)
c.1690A>C (p.Ile564Leu)
3g.122284232A>GCA354159288CASRc.2047A>G (p.Ile683Val)
c.2308A>G (p.Ile770Val)
c.2278A>G (p.Ile760Val)
c.1795A>G (p.Ile599Val)
c.1690A>G (p.Ile564Val)
 ClinVar dbSNP
3g.122284232A>TCA354159289CASRc.2047A>T (p.Ile683Phe)
c.2308A>T (p.Ile770Phe)
c.2278A>T (p.Ile760Phe)
c.1795A>T (p.Ile599Phe)
c.1690A>T (p.Ile564Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122284235_122284237delCA2586972868CASRc.2050_2052del (p.Ile684del)
c.2311_2313del (p.Ile771del)
c.2281_2283del (p.Ile761del)
c.1798_1800del (p.Ile600del)
c.1693_1695del (p.Ile565del)
3g.122284233T>ACA354159291CASRc.2048T>A (p.Ile683Asn)
c.2309T>A (p.Ile770Asn)
c.2279T>A (p.Ile760Asn)
c.1796T>A (p.Ile599Asn)
c.1691T>A (p.Ile564Asn)
3g.122284233T>CCA354159293CASRc.2048T>C (p.Ile683Thr)
c.2309T>C (p.Ile770Thr)
c.2279T>C (p.Ile760Thr)
c.1796T>C (p.Ile599Thr)
c.1691T>C (p.Ile564Thr)
3g.122284233T>GCA354159295CASRc.2048T>G (p.Ile683Ser)
c.2309T>G (p.Ile770Ser)
c.2279T>G (p.Ile760Ser)
c.1796T>G (p.Ile599Ser)
c.1691T>G (p.Ile564Ser)
 gnomAD v4
3g.122284234C>ACA435424809CASRc.2049C>A (p.Ile683=)
c.2310C>A (p.Ile770=)
c.2280C>A (p.Ile760=)
c.1797C>A (p.Ile599=)
c.1692C>A (p.Ile564=)
 ClinVar dbSNP gnomAD v4
3g.122284234C=CA1397871961CASRc.2049C= (p.Ile683=)
c.2310C= (p.Ile770=)
c.2280C= (p.Ile760=)
c.1797C= (p.Ile599=)
c.1692C= (p.Ile564=)
3g.122284234C>GCA354159297CASRc.2049C>G (p.Ile683Met)
c.2310C>G (p.Ile770Met)
c.2280C>G (p.Ile760Met)
c.1797C>G (p.Ile599Met)
c.1692C>G (p.Ile564Met)
 ClinVar dbSNP
3g.122284234C>TCA435424810CASRc.2049C>T (p.Ile683=)
c.2310C>T (p.Ile770=)
c.2280C>T (p.Ile760=)
c.1797C>T (p.Ile599=)
c.1692C>T (p.Ile564=)
 dbSNP COSMIC

Number of alleles fetched