Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.20164957C>ACA412514121RPS6KA3c.1706G>T (p.Arg569Ile)
c.1619G>T (p.Arg540Ile)
c.1622G>T (p.Arg541Ile)
c.1324G>T (n.1324G>T)
c.*927G>T (n.*927G>T)
n.373G>T
c.1703G>T (p.Arg568Ile)
c.1616G>T (p.Arg539Ile)
c.1724G>T (p.Arg575Ile)
c.1721G>T (p.Arg574Ile)
c.1640G>T (p.Arg547Ile)
c.1637G>T (p.Arg546Ile)
Xg.20164957C>GCA412514122RPS6KA3c.1706G>C (p.Arg569Thr)
c.1619G>C (p.Arg540Thr)
c.1622G>C (p.Arg541Thr)
c.1324G>C (n.1324G>C)
c.*927G>C (n.*927G>C)
n.373G>C
c.1703G>C (p.Arg568Thr)
c.1616G>C (p.Arg539Thr)
c.1724G>C (p.Arg575Thr)
c.1721G>C (p.Arg574Thr)
c.1640G>C (p.Arg547Thr)
c.1637G>C (p.Arg546Thr)
Xg.20164957C>TCA412514123RPS6KA3c.1706G>A (p.Arg569Lys)
c.1619G>A (p.Arg540Lys)
c.1622G>A (p.Arg541Lys)
c.1324G>A (n.1324G>A)
c.*927G>A (n.*927G>A)
n.373G>A
c.1703G>A (p.Arg568Lys)
c.1616G>A (p.Arg539Lys)
c.1724G>A (p.Arg575Lys)
c.1721G>A (p.Arg574Lys)
c.1640G>A (p.Arg547Lys)
c.1637G>A (p.Arg546Lys)
Xg.20164957_20164958insGTAACA2509605900RPS6KA3c.1705_1706insTTAC (p.Arg569IlefsTer29)
c.1618_1619insTTAC (p.Arg540IlefsTer29)
c.1621_1622insTTAC (p.Arg541IlefsTer29)
c.1323_1324insTTAC (n.1323_1324insTTAC)
c.*926_*927insTTAC (n.*926_*927insTTAC)
n.372_373insTTAC
c.1702_1703insTTAC (p.Arg568IlefsTer29)
c.1615_1616insTTAC (p.Arg539IlefsTer29)
c.1723_1724insTTAC (p.Arg575IlefsTer29)
c.1720_1721insTTAC (p.Arg574IlefsTer29)
c.1639_1640insTTAC (p.Arg547IlefsTer29)
c.1636_1637insTTAC (p.Arg546IlefsTer29)
Xg.20164958T>ACA412514124RPS6KA3c.1705A>T (p.Arg569Ter)
c.1618A>T (p.Arg540Ter)
c.1621A>T (p.Arg541Ter)
c.1323A>T (n.1323A>T)
c.*926A>T (n.*926A>T)
n.372A>T
c.1702A>T (p.Arg568Ter)
c.1615A>T (p.Arg539Ter)
c.1723A>T (p.Arg575Ter)
c.1720A>T (p.Arg574Ter)
c.1639A>T (p.Arg547Ter)
c.1636A>T (p.Arg546Ter)
Xg.20164958T>CCA412514125RPS6KA3c.1705A>G (p.Arg569Gly)
c.1618A>G (p.Arg540Gly)
c.1621A>G (p.Arg541Gly)
c.1323A>G (n.1323A>G)
c.*926A>G (n.*926A>G)
n.372A>G
c.1702A>G (p.Arg568Gly)
c.1615A>G (p.Arg539Gly)
c.1723A>G (p.Arg575Gly)
c.1720A>G (p.Arg574Gly)
c.1639A>G (p.Arg547Gly)
c.1636A>G (p.Arg546Gly)
Xg.20164958T>GCA515613745RPS6KA3c.1705A>C (p.Arg569=)
c.1618A>C (p.Arg540=)
c.1621A>C (p.Arg541=)
c.1323A>C (n.1323A>C)
c.*926A>C (n.*926A>C)
n.372A>C
c.1702A>C (p.Arg568=)
c.1615A>C (p.Arg539=)
c.1723A>C (p.Arg575=)
c.1720A>C (p.Arg574=)
c.1639A>C (p.Arg547=)
c.1636A>C (p.Arg546=)
Xg.20164959C>ACA515613747RPS6KA3c.1704G>T (p.Leu568=)
c.1617G>T (p.Leu539=)
c.1620G>T (p.Leu540=)
c.1322G>T (n.1322G>T)
c.*925G>T (n.*925G>T)
n.371G>T
c.1701G>T (p.Leu567=)
c.1614G>T (p.Leu538=)
c.1722G>T (p.Leu574=)
c.1719G>T (p.Leu573=)
c.1638G>T (p.Leu546=)
c.1635G>T (p.Leu545=)
Xg.20164959C>GCA515613749RPS6KA3c.1704G>C (p.Leu568=)
c.1617G>C (p.Leu539=)
c.1620G>C (p.Leu540=)
c.1322G>C (n.1322G>C)
c.*925G>C (n.*925G>C)
n.371G>C
c.1701G>C (p.Leu567=)
c.1614G>C (p.Leu538=)
c.1722G>C (p.Leu574=)
c.1719G>C (p.Leu573=)
c.1638G>C (p.Leu546=)
c.1635G>C (p.Leu545=)
Xg.20164959C>TCA515613750RPS6KA3c.1704G>A (p.Leu568=)
c.1617G>A (p.Leu539=)
c.1620G>A (p.Leu540=)
c.1322G>A (n.1322G>A)
c.*925G>A (n.*925G>A)
n.371G>A
c.1701G>A (p.Leu567=)
c.1614G>A (p.Leu538=)
c.1722G>A (p.Leu574=)
c.1719G>A (p.Leu573=)
c.1638G>A (p.Leu546=)
c.1635G>A (p.Leu545=)
 COSMIC
Xg.20164959_20164962delCA2572157875RPS6KA3c.1701_1704del (p.Leu568GlufsTer8)
c.1614_1617del (p.Leu539GlufsTer8)
c.1617_1620del (p.Leu540GlufsTer8)
c.1319_1322del (n.1319_1322del)
c.*922_*925del (n.*922_*925del)
n.369-1_371del
c.1698_1701del (p.Leu567GlufsTer8)
c.1611_1614del (p.Leu538GlufsTer8)
c.1719_1722del (p.Leu574GlufsTer8)
c.1716_1719del (p.Leu573GlufsTer8)
c.1635_1638del (p.Leu546GlufsTer8)
c.1632_1635del (p.Leu545GlufsTer8)
Xg.20164960A>CCA412514126RPS6KA3c.1703T>G (p.Leu568Arg)
c.1616T>G (p.Leu539Arg)
c.1619T>G (p.Leu540Arg)
c.1321T>G (n.1321T>G)
c.*924T>G (n.*924T>G)
n.370T>G
c.1700T>G (p.Leu567Arg)
c.1613T>G (p.Leu538Arg)
c.1721T>G (p.Leu574Arg)
c.1718T>G (p.Leu573Arg)
c.1637T>G (p.Leu546Arg)
c.1634T>G (p.Leu545Arg)
Xg.20164960A>GCA412514127RPS6KA3c.1703T>C (p.Leu568Pro)
c.1616T>C (p.Leu539Pro)
c.1619T>C (p.Leu540Pro)
c.1321T>C (n.1321T>C)
c.*924T>C (n.*924T>C)
n.370T>C
c.1700T>C (p.Leu567Pro)
c.1613T>C (p.Leu538Pro)
c.1721T>C (p.Leu574Pro)
c.1718T>C (p.Leu573Pro)
c.1637T>C (p.Leu546Pro)
c.1634T>C (p.Leu545Pro)
Xg.20164960A>TCA412514128RPS6KA3c.1703T>A (p.Leu568Gln)
c.1616T>A (p.Leu539Gln)
c.1619T>A (p.Leu540Gln)
c.1321T>A (n.1321T>A)
c.*924T>A (n.*924T>A)
n.370T>A
c.1700T>A (p.Leu567Gln)
c.1613T>A (p.Leu538Gln)
c.1721T>A (p.Leu574Gln)
c.1718T>A (p.Leu573Gln)
c.1637T>A (p.Leu546Gln)
c.1634T>A (p.Leu545Gln)
 COSMIC
Xg.20164961G>ACA515613752RPS6KA3c.1702C>T (p.Leu568=)
c.1615C>T (p.Leu539=)
c.1618C>T (p.Leu540=)
c.1320C>T (n.1320C>T)
c.*923C>T (n.*923C>T)
n.369C>T
c.1699C>T (p.Leu567=)
c.1612C>T (p.Leu538=)
c.1720C>T (p.Leu574=)
c.1717C>T (p.Leu573=)
c.1636C>T (p.Leu546=)
c.1633C>T (p.Leu545=)
Xg.20164961G>CCA412514130RPS6KA3c.1702C>G (p.Leu568Val)
c.1615C>G (p.Leu539Val)
c.1618C>G (p.Leu540Val)
c.1320C>G (n.1320C>G)
c.*923C>G (n.*923C>G)
n.369C>G
c.1699C>G (p.Leu567Val)
c.1612C>G (p.Leu538Val)
c.1720C>G (p.Leu574Val)
c.1717C>G (p.Leu573Val)
c.1636C>G (p.Leu546Val)
c.1633C>G (p.Leu545Val)
Xg.20164961G>TCA412514129RPS6KA3c.1702C>A (p.Leu568Met)
c.1615C>A (p.Leu539Met)
c.1618C>A (p.Leu540Met)
c.1320C>A (n.1320C>A)
c.*923C>A (n.*923C>A)
n.369C>A
c.1699C>A (p.Leu567Met)
c.1612C>A (p.Leu538Met)
c.1720C>A (p.Leu574Met)
c.1717C>A (p.Leu573Met)
c.1636C>A (p.Leu546Met)
c.1633C>A (p.Leu545Met)
Xg.20164962C>ACA412514131RPS6KA3c.1701G>T (p.Gln567His)
c.1614G>T (p.Gln538His)
c.1617G>T (p.Gln539His)
c.1319G>T (n.1319G>T)
c.*922G>T (n.*922G>T)
n.369-1G>T
c.1698G>T (p.Gln566His)
c.1611G>T (p.Gln537His)
c.1719G>T (p.Gln573His)
c.1716G>T (p.Gln572His)
c.1635G>T (p.Gln545His)
c.1632G>T (p.Gln544His)
Xg.20164962C>GCA412514132RPS6KA3c.1701G>C (p.Gln567His)
c.1614G>C (p.Gln538His)
c.1617G>C (p.Gln539His)
c.1319G>C (n.1319G>C)
c.*922G>C (n.*922G>C)
n.369-1G>C
c.1698G>C (p.Gln566His)
c.1611G>C (p.Gln537His)
c.1719G>C (p.Gln573His)
c.1716G>C (p.Gln572His)
c.1635G>C (p.Gln545His)
c.1632G>C (p.Gln544His)
Xg.20164962C>TCA515613753RPS6KA3c.1701G>A (p.Gln567=)
c.1614G>A (p.Gln538=)
c.1617G>A (p.Gln539=)
c.1319G>A (n.1319G>A)
c.*922G>A (n.*922G>A)
n.369-1G>A
c.1698G>A (p.Gln566=)
c.1611G>A (p.Gln537=)
c.1719G>A (p.Gln573=)
c.1716G>A (p.Gln572=)
c.1635G>A (p.Gln545=)
c.1632G>A (p.Gln544=)
Xg.20164963T>ACA412514133RPS6KA3c.1700A>T (p.Gln567Leu)
c.1613A>T (p.Gln538Leu)
c.1616A>T (p.Gln539Leu)
c.1318A>T (n.1318A>T)
c.*921A>T (n.*921A>T)
n.369-2A>T
c.1697A>T (p.Gln566Leu)
c.1610A>T (p.Gln537Leu)
c.1718A>T (p.Gln573Leu)
c.1715A>T (p.Gln572Leu)
c.1634A>T (p.Gln545Leu)
c.1631A>T (p.Gln544Leu)
Xg.20164963T>CCA412514134RPS6KA3c.1700A>G (p.Gln567Arg)
c.1613A>G (p.Gln538Arg)
c.1616A>G (p.Gln539Arg)
c.1318A>G (n.1318A>G)
c.*921A>G (n.*921A>G)
n.369-2A>G
c.1697A>G (p.Gln566Arg)
c.1610A>G (p.Gln537Arg)
c.1718A>G (p.Gln573Arg)
c.1715A>G (p.Gln572Arg)
c.1634A>G (p.Gln545Arg)
c.1631A>G (p.Gln544Arg)
Xg.20164963T>GCA412514135RPS6KA3c.1700A>C (p.Gln567Pro)
c.1613A>C (p.Gln538Pro)
c.1616A>C (p.Gln539Pro)
c.1318A>C (n.1318A>C)
c.*921A>C (n.*921A>C)
n.369-2A>C
c.1697A>C (p.Gln566Pro)
c.1610A>C (p.Gln537Pro)
c.1718A>C (p.Gln573Pro)
c.1715A>C (p.Gln572Pro)
c.1634A>C (p.Gln545Pro)
c.1631A>C (p.Gln544Pro)
Xg.20164964G>ACA412514136RPS6KA3c.1699C>T (p.Gln567Ter)
c.1612C>T (p.Gln538Ter)
c.1615C>T (p.Gln539Ter)
c.1317C>T (n.1317C>T)
c.*920C>T (n.*920C>T)
n.369-3C>T
c.1696C>T (p.Gln566Ter)
c.1609C>T (p.Gln537Ter)
c.1717C>T (p.Gln573Ter)
c.1714C>T (p.Gln572Ter)
c.1633C>T (p.Gln545Ter)
c.1630C>T (p.Gln544Ter)
 ClinVar dbSNP
Xg.20164964G>CCA412514137RPS6KA3c.1699C>G (p.Gln567Glu)
c.1612C>G (p.Gln538Glu)
c.1615C>G (p.Gln539Glu)
c.1317C>G (n.1317C>G)
c.*920C>G (n.*920C>G)
n.369-3C>G
c.1696C>G (p.Gln566Glu)
c.1609C>G (p.Gln537Glu)
c.1717C>G (p.Gln573Glu)
c.1714C>G (p.Gln572Glu)
c.1633C>G (p.Gln545Glu)
c.1630C>G (p.Gln544Glu)
Xg.20164964G=CA2418505966RPS6KA3c.1699C= (p.Gln567=)
c.1612C= (p.Gln538=)
c.1615C= (p.Gln539=)
c.1317C= (n.1317C=)
c.*920C= (n.*920C=)
n.369-3C=
c.1696C= (p.Gln566=)
c.1609C= (p.Gln537=)
c.1717C= (p.Gln573=)
c.1714C= (p.Gln572=)
c.1633C= (p.Gln545=)
c.1630C= (p.Gln544=)
Xg.20164964G>TCA412514138RPS6KA3c.1699C>A (p.Gln567Lys)
c.1612C>A (p.Gln538Lys)
c.1615C>A (p.Gln539Lys)
c.1317C>A (n.1317C>A)
c.*920C>A (n.*920C>A)
n.369-3C>A
c.1696C>A (p.Gln566Lys)
c.1609C>A (p.Gln537Lys)
c.1717C>A (p.Gln573Lys)
c.1714C>A (p.Gln572Lys)
c.1633C>A (p.Gln545Lys)
c.1630C>A (p.Gln544Lys)
Xg.20164965T>ACA412514139RPS6KA3c.1698A>T (p.Lys566Asn)
c.1611A>T (p.Lys537Asn)
c.1614A>T (p.Lys538Asn)
c.1316A>T (n.1316A>T)
c.*919A>T (n.*919A>T)
n.369-4A>T
c.1695A>T (p.Lys565Asn)
c.1608A>T (p.Lys536Asn)
c.1716A>T (p.Lys572Asn)
c.1713A>T (p.Lys571Asn)
c.1632A>T (p.Lys544Asn)
c.1629A>T (p.Lys543Asn)
Xg.20164965T>CCA515613757RPS6KA3c.1698A>G (p.Lys566=)
c.1611A>G (p.Lys537=)
c.1614A>G (p.Lys538=)
c.1316A>G (n.1316A>G)
c.*919A>G (n.*919A>G)
n.369-4A>G
c.1695A>G (p.Lys565=)
c.1608A>G (p.Lys536=)
c.1716A>G (p.Lys572=)
c.1713A>G (p.Lys571=)
c.1632A>G (p.Lys544=)
c.1629A>G (p.Lys543=)
Xg.20164965T>GCA412514140RPS6KA3c.1698A>C (p.Lys566Asn)
c.1611A>C (p.Lys537Asn)
c.1614A>C (p.Lys538Asn)
c.1316A>C (n.1316A>C)
c.*919A>C (n.*919A>C)
n.369-4A>C
c.1695A>C (p.Lys565Asn)
c.1608A>C (p.Lys536Asn)
c.1716A>C (p.Lys572Asn)
c.1713A>C (p.Lys571Asn)
c.1632A>C (p.Lys544Asn)
c.1629A>C (p.Lys543Asn)
Xg.20164966T>ACA412514141RPS6KA3c.1697A>T (p.Lys566Ile)
c.1610A>T (p.Lys537Ile)
c.1613A>T (p.Lys538Ile)
c.1315A>T (n.1315A>T)
c.*918A>T (n.*918A>T)
n.369-5A>T
c.1694A>T (p.Lys565Ile)
c.1607A>T (p.Lys536Ile)
c.1715A>T (p.Lys572Ile)
c.1712A>T (p.Lys571Ile)
c.1631A>T (p.Lys544Ile)
c.1628A>T (p.Lys543Ile)
Xg.20164966T>CCA412514142RPS6KA3c.1697A>G (p.Lys566Arg)
c.1610A>G (p.Lys537Arg)
c.1613A>G (p.Lys538Arg)
c.1315A>G (n.1315A>G)
c.*918A>G (n.*918A>G)
n.369-5A>G
c.1694A>G (p.Lys565Arg)
c.1607A>G (p.Lys536Arg)
c.1715A>G (p.Lys572Arg)
c.1712A>G (p.Lys571Arg)
c.1631A>G (p.Lys544Arg)
c.1628A>G (p.Lys543Arg)
Xg.20164966T>GCA412514143RPS6KA3c.1697A>C (p.Lys566Thr)
c.1610A>C (p.Lys537Thr)
c.1613A>C (p.Lys538Thr)
c.1315A>C (n.1315A>C)
c.*918A>C (n.*918A>C)
n.369-5A>C
c.1694A>C (p.Lys565Thr)
c.1607A>C (p.Lys536Thr)
c.1715A>C (p.Lys572Thr)
c.1712A>C (p.Lys571Thr)
c.1631A>C (p.Lys544Thr)
c.1628A>C (p.Lys543Thr)
Xg.20164967T>ACA412514146RPS6KA3c.1696A>T (p.Lys566Ter)
c.1609A>T (p.Lys537Ter)
c.1612A>T (p.Lys538Ter)
c.1314A>T (n.1314A>T)
c.*917A>T (n.*917A>T)
n.369-6A>T
c.1693A>T (p.Lys565Ter)
c.1606A>T (p.Lys536Ter)
c.1714A>T (p.Lys572Ter)
c.1711A>T (p.Lys571Ter)
c.1630A>T (p.Lys544Ter)
c.1627A>T (p.Lys543Ter)
Xg.20164967T>CCA412514145RPS6KA3c.1696A>G (p.Lys566Glu)
c.1609A>G (p.Lys537Glu)
c.1612A>G (p.Lys538Glu)
c.1314A>G (n.1314A>G)
c.*917A>G (n.*917A>G)
n.369-6A>G
c.1693A>G (p.Lys565Glu)
c.1606A>G (p.Lys536Glu)
c.1714A>G (p.Lys572Glu)
c.1711A>G (p.Lys571Glu)
c.1630A>G (p.Lys544Glu)
c.1627A>G (p.Lys543Glu)
 ClinVar
Xg.20164967T>GCA412514144RPS6KA3c.1696A>C (p.Lys566Gln)
c.1609A>C (p.Lys537Gln)
c.1612A>C (p.Lys538Gln)
c.1314A>C (n.1314A>C)
c.*917A>C (n.*917A>C)
n.369-6A>C
c.1693A>C (p.Lys565Gln)
c.1606A>C (p.Lys536Gln)
c.1714A>C (p.Lys572Gln)
c.1711A>C (p.Lys571Gln)
c.1630A>C (p.Lys544Gln)
c.1627A>C (p.Lys543Gln)
Xg.20164968T>ACA515613760RPS6KA3c.1695A>T (p.Ala565=)
c.1608A>T (p.Ala536=)
c.1611A>T (p.Ala537=)
c.1313A>T (n.1313A>T)
c.*916A>T (n.*916A>T)
n.369-7A>T
c.1692A>T (p.Ala564=)
c.1605A>T (p.Ala535=)
c.1713A>T (p.Ala571=)
c.1710A>T (p.Ala570=)
c.1629A>T (p.Ala543=)
c.1626A>T (p.Ala542=)
Xg.20164968T>CCA515613763RPS6KA3c.1695A>G (p.Ala565=)
c.1608A>G (p.Ala536=)
c.1611A>G (p.Ala537=)
c.1313A>G (n.1313A>G)
c.*916A>G (n.*916A>G)
n.369-7A>G
c.1692A>G (p.Ala564=)
c.1605A>G (p.Ala535=)
c.1713A>G (p.Ala571=)
c.1710A>G (p.Ala570=)
c.1629A>G (p.Ala543=)
c.1626A>G (p.Ala542=)
Xg.20164968T>GCA515613761RPS6KA3c.1695A>C (p.Ala565=)
c.1608A>C (p.Ala536=)
c.1611A>C (p.Ala537=)
c.1313A>C (n.1313A>C)
c.*916A>C (n.*916A>C)
n.369-7A>C
c.1692A>C (p.Ala564=)
c.1605A>C (p.Ala535=)
c.1713A>C (p.Ala571=)
c.1710A>C (p.Ala570=)
c.1629A>C (p.Ala543=)
c.1626A>C (p.Ala542=)
Xg.20164969G>ACA412514147RPS6KA3c.1694C>T (p.Ala565Val)
c.1607C>T (p.Ala536Val)
c.1610C>T (p.Ala537Val)
c.1312C>T (n.1312C>T)
c.*915C>T (n.*915C>T)
n.369-8C>T
c.1691C>T (p.Ala564Val)
c.1604C>T (p.Ala535Val)
c.1712C>T (p.Ala571Val)
c.1709C>T (p.Ala570Val)
c.1628C>T (p.Ala543Val)
c.1625C>T (p.Ala542Val)
 COSMIC
Xg.20164969G>CCA412514148RPS6KA3c.1694C>G (p.Ala565Gly)
c.1607C>G (p.Ala536Gly)
c.1610C>G (p.Ala537Gly)
c.1312C>G (n.1312C>G)
c.*915C>G (n.*915C>G)
n.369-8C>G
c.1691C>G (p.Ala564Gly)
c.1604C>G (p.Ala535Gly)
c.1712C>G (p.Ala571Gly)
c.1709C>G (p.Ala570Gly)
c.1628C>G (p.Ala543Gly)
c.1625C>G (p.Ala542Gly)
Xg.20164969G>TCA412514149RPS6KA3c.1694C>A (p.Ala565Glu)
c.1607C>A (p.Ala536Glu)
c.1610C>A (p.Ala537Glu)
c.1312C>A (n.1312C>A)
c.*915C>A (n.*915C>A)
n.369-8C>A
c.1691C>A (p.Ala564Glu)
c.1604C>A (p.Ala535Glu)
c.1712C>A (p.Ala571Glu)
c.1709C>A (p.Ala570Glu)
c.1628C>A (p.Ala543Glu)
c.1625C>A (p.Ala542Glu)
Xg.20164970C>ACA412514150RPS6KA3c.1693G>T (p.Ala565Ser)
c.1606G>T (p.Ala536Ser)
c.1609G>T (p.Ala537Ser)
c.1311G>T (n.1311G>T)
c.*914G>T (n.*914G>T)
n.369-9G>T
c.1690G>T (p.Ala564Ser)
c.1603G>T (p.Ala535Ser)
c.1711G>T (p.Ala571Ser)
c.1708G>T (p.Ala570Ser)
c.1627G>T (p.Ala543Ser)
c.1624G>T (p.Ala542Ser)
Xg.20164970C>GCA412514151RPS6KA3c.1693G>C (p.Ala565Pro)
c.1606G>C (p.Ala536Pro)
c.1609G>C (p.Ala537Pro)
c.1311G>C (n.1311G>C)
c.*914G>C (n.*914G>C)
n.369-9G>C
c.1690G>C (p.Ala564Pro)
c.1603G>C (p.Ala535Pro)
c.1711G>C (p.Ala571Pro)
c.1708G>C (p.Ala570Pro)
c.1627G>C (p.Ala543Pro)
c.1624G>C (p.Ala542Pro)
Xg.20164970C>TCA412514152RPS6KA3c.1693G>A (p.Ala565Thr)
c.1606G>A (p.Ala536Thr)
c.1609G>A (p.Ala537Thr)
c.1311G>A (n.1311G>A)
c.*914G>A (n.*914G>A)
n.369-9G>A
c.1690G>A (p.Ala564Thr)
c.1603G>A (p.Ala535Thr)
c.1711G>A (p.Ala571Thr)
c.1708G>A (p.Ala570Thr)
c.1627G>A (p.Ala543Thr)
c.1624G>A (p.Ala542Thr)
Xg.20164971A>CCA412514153RPS6KA3c.1692T>G (p.Phe564Leu)
c.1605T>G (p.Phe535Leu)
c.1608T>G (p.Phe536Leu)
c.1310T>G (n.1310T>G)
c.*913T>G (n.*913T>G)
n.369-10T>G
c.1689T>G (p.Phe563Leu)
c.1602T>G (p.Phe534Leu)
c.1710T>G (p.Phe570Leu)
c.1707T>G (p.Phe569Leu)
c.1626T>G (p.Phe542Leu)
c.1623T>G (p.Phe541Leu)
Xg.20164971A>GCA515613764RPS6KA3c.1692T>C (p.Phe564=)
c.1605T>C (p.Phe535=)
c.1608T>C (p.Phe536=)
c.1310T>C (n.1310T>C)
c.*913T>C (n.*913T>C)
n.369-10T>C
c.1689T>C (p.Phe563=)
c.1602T>C (p.Phe534=)
c.1710T>C (p.Phe570=)
c.1707T>C (p.Phe569=)
c.1626T>C (p.Phe542=)
c.1623T>C (p.Phe541=)
Xg.20164971A>TCA412514154RPS6KA3c.1692T>A (p.Phe564Leu)
c.1605T>A (p.Phe535Leu)
c.1608T>A (p.Phe536Leu)
c.1310T>A (n.1310T>A)
c.*913T>A (n.*913T>A)
n.369-10T>A
c.1689T>A (p.Phe563Leu)
c.1602T>A (p.Phe534Leu)
c.1710T>A (p.Phe570Leu)
c.1707T>A (p.Phe569Leu)
c.1626T>A (p.Phe542Leu)
c.1623T>A (p.Phe541Leu)
Xg.20164972A>CCA412514155RPS6KA3c.1691T>G (p.Phe564Cys)
c.1604T>G (p.Phe535Cys)
c.1607T>G (p.Phe536Cys)
c.1309T>G (n.1309T>G)
c.*912T>G (n.*912T>G)
n.369-11T>G
c.1688T>G (p.Phe563Cys)
c.1601T>G (p.Phe534Cys)
c.1709T>G (p.Phe570Cys)
c.1706T>G (p.Phe569Cys)
c.1625T>G (p.Phe542Cys)
c.1622T>G (p.Phe541Cys)
Xg.20164972A>GCA412514156RPS6KA3c.1691T>C (p.Phe564Ser)
c.1604T>C (p.Phe535Ser)
c.1607T>C (p.Phe536Ser)
c.1309T>C (n.1309T>C)
c.*912T>C (n.*912T>C)
n.369-11T>C
c.1688T>C (p.Phe563Ser)
c.1601T>C (p.Phe534Ser)
c.1709T>C (p.Phe570Ser)
c.1706T>C (p.Phe569Ser)
c.1625T>C (p.Phe542Ser)
c.1622T>C (p.Phe541Ser)
Xg.20164972A>TCA412514157RPS6KA3c.1691T>A (p.Phe564Tyr)
c.1604T>A (p.Phe535Tyr)
c.1607T>A (p.Phe536Tyr)
c.1309T>A (n.1309T>A)
c.*912T>A (n.*912T>A)
n.369-11T>A
c.1688T>A (p.Phe563Tyr)
c.1601T>A (p.Phe534Tyr)
c.1709T>A (p.Phe570Tyr)
c.1706T>A (p.Phe569Tyr)
c.1625T>A (p.Phe542Tyr)
c.1622T>A (p.Phe541Tyr)
Xg.20164973A>CCA412514158RPS6KA3c.1690T>G (p.Phe564Val)
c.1603T>G (p.Phe535Val)
c.1606T>G (p.Phe536Val)
c.1308T>G (n.1308T>G)
c.*911T>G (n.*911T>G)
n.369-12T>G
c.1687T>G (p.Phe563Val)
c.1600T>G (p.Phe534Val)
c.1708T>G (p.Phe570Val)
c.1705T>G (p.Phe569Val)
c.1624T>G (p.Phe542Val)
c.1621T>G (p.Phe541Val)
Xg.20164973A>GCA412514159RPS6KA3c.1690T>C (p.Phe564Leu)
c.1603T>C (p.Phe535Leu)
c.1606T>C (p.Phe536Leu)
c.1308T>C (n.1308T>C)
c.*911T>C (n.*911T>C)
n.369-12T>C
c.1687T>C (p.Phe563Leu)
c.1600T>C (p.Phe534Leu)
c.1708T>C (p.Phe570Leu)
c.1705T>C (p.Phe569Leu)
c.1624T>C (p.Phe542Leu)
c.1621T>C (p.Phe541Leu)
Xg.20164973A>TCA412514160RPS6KA3c.1690T>A (p.Phe564Ile)
c.1603T>A (p.Phe535Ile)
c.1606T>A (p.Phe536Ile)
c.1308T>A (n.1308T>A)
c.*911T>A (n.*911T>A)
n.369-12T>A
c.1687T>A (p.Phe563Ile)
c.1600T>A (p.Phe534Ile)
c.1708T>A (p.Phe570Ile)
c.1705T>A (p.Phe569Ile)
c.1624T>A (p.Phe542Ile)
c.1621T>A (p.Phe541Ile)
Xg.20164974G>ACA515613769RPS6KA3c.1689C>T (p.Gly563=)
c.1602C>T (p.Gly534=)
c.1605C>T (p.Gly535=)
c.1307C>T (n.1307C>T)
c.*910C>T (n.*910C>T)
n.369-13C>T
c.1686C>T (p.Gly562=)
c.1599C>T (p.Gly533=)
c.1707C>T (p.Gly569=)
c.1704C>T (p.Gly568=)
c.1623C>T (p.Gly541=)
c.1620C>T (p.Gly540=)
 dbSNP gnomAD v4
Xg.20164974G>CCA515613770RPS6KA3c.1689C>G (p.Gly563=)
c.1602C>G (p.Gly534=)
c.1605C>G (p.Gly535=)
c.1307C>G (n.1307C>G)
c.*910C>G (n.*910C>G)
n.369-13C>G
c.1686C>G (p.Gly562=)
c.1599C>G (p.Gly533=)
c.1707C>G (p.Gly569=)
c.1704C>G (p.Gly568=)
c.1623C>G (p.Gly541=)
c.1620C>G (p.Gly540=)
Xg.20164974G=CA2418505967RPS6KA3c.1689C= (p.Gly563=)
c.1602C= (p.Gly534=)
c.1605C= (p.Gly535=)
c.1307C= (n.1307C=)
c.*910C= (n.*910C=)
n.369-13C=
c.1686C= (p.Gly562=)
c.1599C= (p.Gly533=)
c.1707C= (p.Gly569=)
c.1704C= (p.Gly568=)
c.1623C= (p.Gly541=)
c.1620C= (p.Gly540=)
Xg.20164974G>TCA515613771RPS6KA3c.1689C>A (p.Gly563=)
c.1602C>A (p.Gly534=)
c.1605C>A (p.Gly535=)
c.1307C>A (n.1307C>A)
c.*910C>A (n.*910C>A)
n.369-13C>A
c.1686C>A (p.Gly562=)
c.1599C>A (p.Gly533=)
c.1707C>A (p.Gly569=)
c.1704C>A (p.Gly568=)
c.1623C>A (p.Gly541=)
c.1620C>A (p.Gly540=)
 gnomAD v4
Xg.20164975C>ACA412514163RPS6KA3c.1688G>T (p.Gly563Val)
c.1601G>T (p.Gly534Val)
c.1604G>T (p.Gly535Val)
c.1306G>T (n.1306G>T)
c.*909G>T (n.*909G>T)
n.369-14G>T
c.1685G>T (p.Gly562Val)
c.1598G>T (p.Gly533Val)
c.1706G>T (p.Gly569Val)
c.1703G>T (p.Gly568Val)
c.1622G>T (p.Gly541Val)
c.1619G>T (p.Gly540Val)
Xg.20164975C>GCA412514162RPS6KA3c.1688G>C (p.Gly563Ala)
c.1601G>C (p.Gly534Ala)
c.1604G>C (p.Gly535Ala)
c.1306G>C (n.1306G>C)
c.*909G>C (n.*909G>C)
n.369-14G>C
c.1685G>C (p.Gly562Ala)
c.1598G>C (p.Gly533Ala)
c.1706G>C (p.Gly569Ala)
c.1703G>C (p.Gly568Ala)
c.1622G>C (p.Gly541Ala)
c.1619G>C (p.Gly540Ala)
Xg.20164975C>TCA412514161RPS6KA3c.1688G>A (p.Gly563Asp)
c.1601G>A (p.Gly534Asp)
c.1604G>A (p.Gly535Asp)
c.1306G>A (n.1306G>A)
c.*909G>A (n.*909G>A)
n.369-14G>A
c.1685G>A (p.Gly562Asp)
c.1598G>A (p.Gly533Asp)
c.1706G>A (p.Gly569Asp)
c.1703G>A (p.Gly568Asp)
c.1622G>A (p.Gly541Asp)
c.1619G>A (p.Gly540Asp)
 ClinVar dbSNP
Xg.20164976C>ACA412514164RPS6KA3c.1687G>T (p.Gly563Cys)
c.1600G>T (p.Gly534Cys)
c.1603G>T (p.Gly535Cys)
c.1305G>T (n.1305G>T)
c.*908G>T (n.*908G>T)
n.369-15G>T
c.1684G>T (p.Gly562Cys)
c.1597G>T (p.Gly533Cys)
c.1705G>T (p.Gly569Cys)
c.1702G>T (p.Gly568Cys)
c.1621G>T (p.Gly541Cys)
c.1618G>T (p.Gly540Cys)
Xg.20164976C>GCA412514165RPS6KA3c.1687G>C (p.Gly563Arg)
c.1600G>C (p.Gly534Arg)
c.1603G>C (p.Gly535Arg)
c.1305G>C (n.1305G>C)
c.*908G>C (n.*908G>C)
n.369-15G>C
c.1684G>C (p.Gly562Arg)
c.1597G>C (p.Gly533Arg)
c.1705G>C (p.Gly569Arg)
c.1702G>C (p.Gly568Arg)
c.1621G>C (p.Gly541Arg)
c.1618G>C (p.Gly540Arg)
Xg.20164976C>TCA412514166RPS6KA3c.1687G>A (p.Gly563Ser)
c.1600G>A (p.Gly534Ser)
c.1603G>A (p.Gly535Ser)
c.1305G>A (n.1305G>A)
c.*908G>A (n.*908G>A)
n.369-15G>A
c.1684G>A (p.Gly562Ser)
c.1597G>A (p.Gly533Ser)
c.1705G>A (p.Gly569Ser)
c.1702G>A (p.Gly568Ser)
c.1621G>A (p.Gly541Ser)
c.1618G>A (p.Gly540Ser)
 COSMIC
Xg.20164977A>CCA412514167RPS6KA3c.1686T>G (p.Phe562Leu)
c.1599T>G (p.Phe533Leu)
c.1602T>G (p.Phe534Leu)
c.1304T>G (n.1304T>G)
c.*907T>G (n.*907T>G)
n.369-16T>G
c.1683T>G (p.Phe561Leu)
c.1596T>G (p.Phe532Leu)
c.1704T>G (p.Phe568Leu)
c.1701T>G (p.Phe567Leu)
c.1620T>G (p.Phe540Leu)
c.1617T>G (p.Phe539Leu)
Xg.20164977A>GCA515613772RPS6KA3c.1686T>C (p.Phe562=)
c.1599T>C (p.Phe533=)
c.1602T>C (p.Phe534=)
c.1304T>C (n.1304T>C)
c.*907T>C (n.*907T>C)
n.369-16T>C
c.1683T>C (p.Phe561=)
c.1596T>C (p.Phe532=)
c.1704T>C (p.Phe568=)
c.1701T>C (p.Phe567=)
c.1620T>C (p.Phe540=)
c.1617T>C (p.Phe539=)
Xg.20164977A>TCA412514168RPS6KA3c.1686T>A (p.Phe562Leu)
c.1599T>A (p.Phe533Leu)
c.1602T>A (p.Phe534Leu)
c.1304T>A (n.1304T>A)
c.*907T>A (n.*907T>A)
n.369-16T>A
c.1683T>A (p.Phe561Leu)
c.1596T>A (p.Phe532Leu)
c.1704T>A (p.Phe568Leu)
c.1701T>A (p.Phe567Leu)
c.1620T>A (p.Phe540Leu)
c.1617T>A (p.Phe539Leu)
Xg.20164980dupCA2695196542RPS6KA3c.1686dup (p.Gly563TrpfsTer?)
c.1599dup (p.Gly534TrpfsTer?)
c.1602dup (p.Gly535TrpfsTer?)
c.1304dup (n.1304dup)
c.*907dup (n.*907dup)
n.369-16dup
c.1683dup (p.Gly562TrpfsTer?)
c.1596dup (p.Gly533TrpfsTer?)
c.1704dup (p.Gly569TrpfsTer?)
c.1701dup (p.Gly568TrpfsTer?)
c.1620dup (p.Gly541TrpfsTer?)
c.1617dup (p.Gly540TrpfsTer?)
Xg.20164978A>CCA412514169RPS6KA3c.1685T>G (p.Phe562Cys)
c.1598T>G (p.Phe533Cys)
c.1601T>G (p.Phe534Cys)
c.1303T>G (n.1303T>G)
c.*906T>G (n.*906T>G)
n.369-17T>G
c.1682T>G (p.Phe561Cys)
c.1595T>G (p.Phe532Cys)
c.1703T>G (p.Phe568Cys)
c.1700T>G (p.Phe567Cys)
c.1619T>G (p.Phe540Cys)
c.1616T>G (p.Phe539Cys)
Xg.20164978A>GCA412514170RPS6KA3c.1685T>C (p.Phe562Ser)
c.1598T>C (p.Phe533Ser)
c.1601T>C (p.Phe534Ser)
c.1303T>C (n.1303T>C)
c.*906T>C (n.*906T>C)
n.369-17T>C
c.1682T>C (p.Phe561Ser)
c.1595T>C (p.Phe532Ser)
c.1703T>C (p.Phe568Ser)
c.1700T>C (p.Phe567Ser)
c.1619T>C (p.Phe540Ser)
c.1616T>C (p.Phe539Ser)
Xg.20164978A>TCA412514171RPS6KA3c.1685T>A (p.Phe562Tyr)
c.1598T>A (p.Phe533Tyr)
c.1601T>A (p.Phe534Tyr)
c.1303T>A (n.1303T>A)
c.*906T>A (n.*906T>A)
n.369-17T>A
c.1682T>A (p.Phe561Tyr)
c.1595T>A (p.Phe532Tyr)
c.1703T>A (p.Phe568Tyr)
c.1700T>A (p.Phe567Tyr)
c.1619T>A (p.Phe540Tyr)
c.1616T>A (p.Phe539Tyr)
Xg.20164979A>CCA412514172RPS6KA3c.1684T>G (p.Phe562Val)
c.1597T>G (p.Phe533Val)
c.1600T>G (p.Phe534Val)
c.1302T>G (n.1302T>G)
c.*905T>G (n.*905T>G)
n.369-18T>G
c.1681T>G (p.Phe561Val)
c.1594T>G (p.Phe532Val)
c.1702T>G (p.Phe568Val)
c.1699T>G (p.Phe567Val)
c.1618T>G (p.Phe540Val)
c.1615T>G (p.Phe539Val)
Xg.20164979A>GCA412514174RPS6KA3c.1684T>C (p.Phe562Leu)
c.1597T>C (p.Phe533Leu)
c.1600T>C (p.Phe534Leu)
c.1302T>C (n.1302T>C)
c.*905T>C (n.*905T>C)
n.369-18T>C
c.1681T>C (p.Phe561Leu)
c.1594T>C (p.Phe532Leu)
c.1702T>C (p.Phe568Leu)
c.1699T>C (p.Phe567Leu)
c.1618T>C (p.Phe540Leu)
c.1615T>C (p.Phe539Leu)
Xg.20164979A>TCA412514173RPS6KA3c.1684T>A (p.Phe562Ile)
c.1597T>A (p.Phe533Ile)
c.1600T>A (p.Phe534Ile)
c.1302T>A (n.1302T>A)
c.*905T>A (n.*905T>A)
n.369-18T>A
c.1681T>A (p.Phe561Ile)
c.1594T>A (p.Phe532Ile)
c.1702T>A (p.Phe568Ile)
c.1699T>A (p.Phe567Ile)
c.1618T>A (p.Phe540Ile)
c.1615T>A (p.Phe539Ile)
Xg.20164980A>CCA412514175RPS6KA3c.1683T>G (p.Asp561Glu)
c.1596T>G (p.Asp532Glu)
c.1599T>G (p.Asp533Glu)
c.1301T>G (n.1301T>G)
c.*904T>G (n.*904T>G)
n.369-19T>G
c.1680T>G (p.Asp560Glu)
c.1593T>G (p.Asp531Glu)
c.1701T>G (p.Asp567Glu)
c.1698T>G (p.Asp566Glu)
c.1617T>G (p.Asp539Glu)
c.1614T>G (p.Asp538Glu)
Xg.20164980A>GCA515613776RPS6KA3c.1683T>C (p.Asp561=)
c.1596T>C (p.Asp532=)
c.1599T>C (p.Asp533=)
c.1301T>C (n.1301T>C)
c.*904T>C (n.*904T>C)
n.369-19T>C
c.1680T>C (p.Asp560=)
c.1593T>C (p.Asp531=)
c.1701T>C (p.Asp567=)
c.1698T>C (p.Asp566=)
c.1617T>C (p.Asp539=)
c.1614T>C (p.Asp538=)
Xg.20164980A>TCA412514176RPS6KA3c.1683T>A (p.Asp561Glu)
c.1596T>A (p.Asp532Glu)
c.1599T>A (p.Asp533Glu)
c.1301T>A (n.1301T>A)
c.*904T>A (n.*904T>A)
n.369-19T>A
c.1680T>A (p.Asp560Glu)
c.1593T>A (p.Asp531Glu)
c.1701T>A (p.Asp567Glu)
c.1698T>A (p.Asp566Glu)
c.1617T>A (p.Asp539Glu)
c.1614T>A (p.Asp538Glu)
Xg.20164981T>ACA412514177RPS6KA3c.1682A>T (p.Asp561Val)
c.1595A>T (p.Asp532Val)
c.1598A>T (p.Asp533Val)
c.1300A>T (n.1300A>T)
c.*903A>T (n.*903A>T)
n.369-20A>T
c.1679A>T (p.Asp560Val)
c.1592A>T (p.Asp531Val)
c.1700A>T (p.Asp567Val)
c.1697A>T (p.Asp566Val)
c.1616A>T (p.Asp539Val)
c.1613A>T (p.Asp538Val)
Xg.20164981T>CCA412514178RPS6KA3c.1682A>G (p.Asp561Gly)
c.1595A>G (p.Asp532Gly)
c.1598A>G (p.Asp533Gly)
c.1300A>G (n.1300A>G)
c.*903A>G (n.*903A>G)
n.369-20A>G
c.1679A>G (p.Asp560Gly)
c.1592A>G (p.Asp531Gly)
c.1700A>G (p.Asp567Gly)
c.1697A>G (p.Asp566Gly)
c.1616A>G (p.Asp539Gly)
c.1613A>G (p.Asp538Gly)
Xg.20164981T>GCA412514179RPS6KA3c.1682A>C (p.Asp561Ala)
c.1595A>C (p.Asp532Ala)
c.1598A>C (p.Asp533Ala)
c.1300A>C (n.1300A>C)
c.*903A>C (n.*903A>C)
n.369-20A>C
c.1679A>C (p.Asp560Ala)
c.1592A>C (p.Asp531Ala)
c.1700A>C (p.Asp567Ala)
c.1697A>C (p.Asp566Ala)
c.1616A>C (p.Asp539Ala)
c.1613A>C (p.Asp538Ala)
Xg.20164982C>ACA412514180RPS6KA3c.1681G>T (p.Asp561Tyr)
c.1594G>T (p.Asp532Tyr)
c.1597G>T (p.Asp533Tyr)
c.1299G>T (n.1299G>T)
c.*902G>T (n.*902G>T)
n.369-21G>T
c.1678G>T (p.Asp560Tyr)
c.1591G>T (p.Asp531Tyr)
c.1699G>T (p.Asp567Tyr)
c.1696G>T (p.Asp566Tyr)
c.1615G>T (p.Asp539Tyr)
c.1612G>T (p.Asp538Tyr)
Xg.20164982C>GCA412514182RPS6KA3c.1681G>C (p.Asp561His)
c.1594G>C (p.Asp532His)
c.1597G>C (p.Asp533His)
c.1299G>C (n.1299G>C)
c.*902G>C (n.*902G>C)
n.369-21G>C
c.1678G>C (p.Asp560His)
c.1591G>C (p.Asp531His)
c.1699G>C (p.Asp567His)
c.1696G>C (p.Asp566His)
c.1615G>C (p.Asp539His)
c.1612G>C (p.Asp538His)
Xg.20164982C>TCA412514181RPS6KA3c.1681G>A (p.Asp561Asn)
c.1594G>A (p.Asp532Asn)
c.1597G>A (p.Asp533Asn)
c.1299G>A (n.1299G>A)
c.*902G>A (n.*902G>A)
n.369-21G>A
c.1678G>A (p.Asp560Asn)
c.1591G>A (p.Asp531Asn)
c.1699G>A (p.Asp567Asn)
c.1696G>A (p.Asp566Asn)
c.1615G>A (p.Asp539Asn)
c.1612G>A (p.Asp538Asn)
Xg.20164983A>CCA412514183RPS6KA3c.1680T>G (p.Cys560Trp)
c.1593T>G (p.Cys531Trp)
c.1596T>G (p.Cys532Trp)
c.1298T>G (n.1298T>G)
c.*901T>G (n.*901T>G)
n.369-22T>G
c.1677T>G (p.Cys559Trp)
c.1590T>G (p.Cys530Trp)
c.1698T>G (p.Cys566Trp)
c.1695T>G (p.Cys565Trp)
c.1614T>G (p.Cys538Trp)
c.1611T>G (p.Cys537Trp)
Xg.20164983A>GCA515613780RPS6KA3c.1680T>C (p.Cys560=)
c.1593T>C (p.Cys531=)
c.1596T>C (p.Cys532=)
c.1298T>C (n.1298T>C)
c.*901T>C (n.*901T>C)
n.369-22T>C
c.1677T>C (p.Cys559=)
c.1590T>C (p.Cys530=)
c.1698T>C (p.Cys566=)
c.1695T>C (p.Cys565=)
c.1614T>C (p.Cys538=)
c.1611T>C (p.Cys537=)
Xg.20164983A>TCA412514184RPS6KA3c.1680T>A (p.Cys560Ter)
c.1593T>A (p.Cys531Ter)
c.1596T>A (p.Cys532Ter)
c.1298T>A (n.1298T>A)
c.*901T>A (n.*901T>A)
n.369-22T>A
c.1677T>A (p.Cys559Ter)
c.1590T>A (p.Cys530Ter)
c.1698T>A (p.Cys566Ter)
c.1695T>A (p.Cys565Ter)
c.1614T>A (p.Cys538Ter)
c.1611T>A (p.Cys537Ter)
Xg.20164984C>ACA412514185RPS6KA3c.1679G>T (p.Cys560Phe)
c.1592G>T (p.Cys531Phe)
c.1595G>T (p.Cys532Phe)
c.1297G>T (n.1297G>T)
c.*900G>T (n.*900G>T)
n.369-23G>T
c.1676G>T (p.Cys559Phe)
c.1589G>T (p.Cys530Phe)
c.1697G>T (p.Cys566Phe)
c.1694G>T (p.Cys565Phe)
c.1613G>T (p.Cys538Phe)
c.1610G>T (p.Cys537Phe)
Xg.20164984C>GCA412514186RPS6KA3c.1679G>C (p.Cys560Ser)
c.1592G>C (p.Cys531Ser)
c.1595G>C (p.Cys532Ser)
c.1297G>C (n.1297G>C)
c.*900G>C (n.*900G>C)
n.369-23G>C
c.1676G>C (p.Cys559Ser)
c.1589G>C (p.Cys530Ser)
c.1697G>C (p.Cys566Ser)
c.1694G>C (p.Cys565Ser)
c.1613G>C (p.Cys538Ser)
c.1610G>C (p.Cys537Ser)
Xg.20164984C>TCA412514187RPS6KA3c.1679G>A (p.Cys560Tyr)
c.1592G>A (p.Cys531Tyr)
c.1595G>A (p.Cys532Tyr)
c.1297G>A (n.1297G>A)
c.*900G>A (n.*900G>A)
n.369-23G>A
c.1676G>A (p.Cys559Tyr)
c.1589G>A (p.Cys530Tyr)
c.1697G>A (p.Cys566Tyr)
c.1694G>A (p.Cys565Tyr)
c.1613G>A (p.Cys538Tyr)
c.1610G>A (p.Cys537Tyr)
 ClinVar
Xg.20164985A=CA2418505968RPS6KA3c.1678T= (p.Cys560=)
c.1591T= (p.Cys531=)
c.1594T= (p.Cys532=)
c.1296T= (n.1296T=)
c.*899T= (n.*899T=)
n.369-24T=
c.1675T= (p.Cys559=)
c.1588T= (p.Cys530=)
c.1696T= (p.Cys566=)
c.1693T= (p.Cys565=)
c.1612T= (p.Cys538=)
c.1609T= (p.Cys537=)
Xg.20164985A>CCA412514188RPS6KA3c.1678T>G (p.Cys560Gly)
c.1591T>G (p.Cys531Gly)
c.1594T>G (p.Cys532Gly)
c.1296T>G (n.1296T>G)
c.*899T>G (n.*899T>G)
n.369-24T>G
c.1675T>G (p.Cys559Gly)
c.1588T>G (p.Cys530Gly)
c.1696T>G (p.Cys566Gly)
c.1693T>G (p.Cys565Gly)
c.1612T>G (p.Cys538Gly)
c.1609T>G (p.Cys537Gly)
Xg.20164985A>GCA412514189RPS6KA3c.1678T>C (p.Cys560Arg)
c.1591T>C (p.Cys531Arg)
c.1594T>C (p.Cys532Arg)
c.1296T>C (n.1296T>C)
c.*899T>C (n.*899T>C)
n.369-24T>C
c.1675T>C (p.Cys559Arg)
c.1588T>C (p.Cys530Arg)
c.1696T>C (p.Cys566Arg)
c.1693T>C (p.Cys565Arg)
c.1612T>C (p.Cys538Arg)
c.1609T>C (p.Cys537Arg)
 ClinVar dbSNP
Xg.20164985A>TCA412514190RPS6KA3c.1678T>A (p.Cys560Ser)
c.1591T>A (p.Cys531Ser)
c.1594T>A (p.Cys532Ser)
c.1296T>A (n.1296T>A)
c.*899T>A (n.*899T>A)
n.369-24T>A
c.1675T>A (p.Cys559Ser)
c.1588T>A (p.Cys530Ser)
c.1696T>A (p.Cys566Ser)
c.1693T>A (p.Cys565Ser)
c.1612T>A (p.Cys538Ser)
c.1609T>A (p.Cys537Ser)
Xg.20164986A>CCA412514191RPS6KA3c.1677T>G (p.Ile559Met)
c.1590T>G (p.Ile530Met)
c.1593T>G (p.Ile531Met)
c.1295T>G (n.1295T>G)
c.*898T>G (n.*898T>G)
n.369-25T>G
c.1674T>G (p.Ile558Met)
c.1587T>G (p.Ile529Met)
c.1695T>G (p.Ile565Met)
c.1692T>G (p.Ile564Met)
c.1611T>G (p.Ile537Met)
c.1608T>G (p.Ile536Met)
Xg.20164986A>GCA515613781RPS6KA3c.1677T>C (p.Ile559=)
c.1590T>C (p.Ile530=)
c.1593T>C (p.Ile531=)
c.1295T>C (n.1295T>C)
c.*898T>C (n.*898T>C)
n.369-25T>C
c.1674T>C (p.Ile558=)
c.1587T>C (p.Ile529=)
c.1695T>C (p.Ile565=)
c.1692T>C (p.Ile564=)
c.1611T>C (p.Ile537=)
c.1608T>C (p.Ile536=)
Xg.20164986A>TCA515613782RPS6KA3c.1677T>A (p.Ile559=)
c.1590T>A (p.Ile530=)
c.1593T>A (p.Ile531=)
c.1295T>A (n.1295T>A)
c.*898T>A (n.*898T>A)
n.369-25T>A
c.1674T>A (p.Ile558=)
c.1587T>A (p.Ile529=)
c.1695T>A (p.Ile565=)
c.1692T>A (p.Ile564=)
c.1611T>A (p.Ile537=)
c.1608T>A (p.Ile536=)
Xg.20164987A>CCA412514192RPS6KA3c.1676T>G (p.Ile559Ser)
c.1589T>G (p.Ile530Ser)
c.1592T>G (p.Ile531Ser)
c.1294T>G (n.1294T>G)
c.*897T>G (n.*897T>G)
n.369-26T>G
c.1673T>G (p.Ile558Ser)
c.1586T>G (p.Ile529Ser)
c.1694T>G (p.Ile565Ser)
c.1691T>G (p.Ile564Ser)
c.1610T>G (p.Ile537Ser)
c.1607T>G (p.Ile536Ser)
Xg.20164987A>GCA412514193RPS6KA3c.1676T>C (p.Ile559Thr)
c.1589T>C (p.Ile530Thr)
c.1592T>C (p.Ile531Thr)
c.1294T>C (n.1294T>C)
c.*897T>C (n.*897T>C)
n.369-26T>C
c.1673T>C (p.Ile558Thr)
c.1586T>C (p.Ile529Thr)
c.1694T>C (p.Ile565Thr)
c.1691T>C (p.Ile564Thr)
c.1610T>C (p.Ile537Thr)
c.1607T>C (p.Ile536Thr)
Xg.20164987A>TCA412514194RPS6KA3c.1676T>A (p.Ile559Asn)
c.1589T>A (p.Ile530Asn)
c.1592T>A (p.Ile531Asn)
c.1294T>A (n.1294T>A)
c.*897T>A (n.*897T>A)
n.369-26T>A
c.1673T>A (p.Ile558Asn)
c.1586T>A (p.Ile529Asn)
c.1694T>A (p.Ile565Asn)
c.1691T>A (p.Ile564Asn)
c.1610T>A (p.Ile537Asn)
c.1607T>A (p.Ile536Asn)
Xg.20164988T>ACA412514195RPS6KA3c.1675A>T (p.Ile559Phe)
c.1588A>T (p.Ile530Phe)
c.1591A>T (p.Ile531Phe)
c.1293A>T (n.1293A>T)
c.*896A>T (n.*896A>T)
n.369-27A>T
c.1672A>T (p.Ile558Phe)
c.1585A>T (p.Ile529Phe)
c.1693A>T (p.Ile565Phe)
c.1690A>T (p.Ile564Phe)
c.1609A>T (p.Ile537Phe)
c.1606A>T (p.Ile536Phe)
Xg.20164988T>CCA412514197RPS6KA3c.1675A>G (p.Ile559Val)
c.1588A>G (p.Ile530Val)
c.1591A>G (p.Ile531Val)
c.1293A>G (n.1293A>G)
c.*896A>G (n.*896A>G)
n.369-27A>G
c.1672A>G (p.Ile558Val)
c.1585A>G (p.Ile529Val)
c.1693A>G (p.Ile565Val)
c.1690A>G (p.Ile564Val)
c.1609A>G (p.Ile537Val)
c.1606A>G (p.Ile536Val)
Xg.20164988T>GCA412514196RPS6KA3c.1675A>C (p.Ile559Leu)
c.1588A>C (p.Ile530Leu)
c.1591A>C (p.Ile531Leu)
c.1293A>C (n.1293A>C)
c.*896A>C (n.*896A>C)
n.369-27A>C
c.1672A>C (p.Ile558Leu)
c.1585A>C (p.Ile529Leu)
c.1693A>C (p.Ile565Leu)
c.1690A>C (p.Ile564Leu)
c.1609A>C (p.Ile537Leu)
c.1606A>C (p.Ile536Leu)
Xg.20164989T>ACA515613784RPS6KA3c.1674A>T (p.Arg558=)
c.1587A>T (p.Arg529=)
c.1590A>T (p.Arg530=)
c.1292A>T (n.1292A>T)
c.*895A>T (n.*895A>T)
n.369-28A>T
c.1671A>T (p.Arg557=)
c.1584A>T (p.Arg528=)
c.1692A>T (p.Arg564=)
c.1689A>T (p.Arg563=)
c.1608A>T (p.Arg536=)
c.1605A>T (p.Arg535=)
Xg.20164989T>CCA515613786RPS6KA3c.1674A>G (p.Arg558=)
c.1587A>G (p.Arg529=)
c.1590A>G (p.Arg530=)
c.1292A>G (n.1292A>G)
c.*895A>G (n.*895A>G)
n.369-28A>G
c.1671A>G (p.Arg557=)
c.1584A>G (p.Arg528=)
c.1692A>G (p.Arg564=)
c.1689A>G (p.Arg563=)
c.1608A>G (p.Arg536=)
c.1605A>G (p.Arg535=)
Xg.20164989T>GCA515613785RPS6KA3c.1674A>C (p.Arg558=)
c.1587A>C (p.Arg529=)
c.1590A>C (p.Arg530=)
c.1292A>C (n.1292A>C)
c.*895A>C (n.*895A>C)
n.369-28A>C
c.1671A>C (p.Arg557=)
c.1584A>C (p.Arg528=)
c.1692A>C (p.Arg564=)
c.1689A>C (p.Arg563=)
c.1608A>C (p.Arg536=)
c.1605A>C (p.Arg535=)
Xg.20164990C>ACA412514198RPS6KA3c.1673G>T (p.Arg558Leu)
c.1586G>T (p.Arg529Leu)
c.1589G>T (p.Arg530Leu)
c.1291G>T (n.1291G>T)
c.*894G>T (n.*894G>T)
n.369-29G>T
c.1670G>T (p.Arg557Leu)
c.1583G>T (p.Arg528Leu)
c.1691G>T (p.Arg564Leu)
c.1688G>T (p.Arg563Leu)
c.1607G>T (p.Arg536Leu)
c.1604G>T (p.Arg535Leu)
Xg.20164990C=CA2418505969RPS6KA3c.1673G= (p.Arg558=)
c.1586G= (p.Arg529=)
c.1589G= (p.Arg530=)
c.1291G= (n.1291G=)
c.*894G= (n.*894G=)
n.369-29G=
c.1670G= (p.Arg557=)
c.1583G= (p.Arg528=)
c.1691G= (p.Arg564=)
c.1688G= (p.Arg563=)
c.1607G= (p.Arg536=)
c.1604G= (p.Arg535=)
Xg.20164990C>GCA412514199RPS6KA3c.1673G>C (p.Arg558Pro)
c.1586G>C (p.Arg529Pro)
c.1589G>C (p.Arg530Pro)
c.1291G>C (n.1291G>C)
c.*894G>C (n.*894G>C)
n.369-29G>C
c.1670G>C (p.Arg557Pro)
c.1583G>C (p.Arg528Pro)
c.1691G>C (p.Arg564Pro)
c.1688G>C (p.Arg563Pro)
c.1607G>C (p.Arg536Pro)
c.1604G>C (p.Arg535Pro)
Xg.20164990C>TCA412514200RPS6KA3c.1673G>A (p.Arg558Gln)
c.1586G>A (p.Arg529Gln)
c.1589G>A (p.Arg530Gln)
c.1291G>A (n.1291G>A)
c.*894G>A (n.*894G>A)
n.369-29G>A
c.1670G>A (p.Arg557Gln)
c.1583G>A (p.Arg528Gln)
c.1691G>A (p.Arg564Gln)
c.1688G>A (p.Arg563Gln)
c.1607G>A (p.Arg536Gln)
c.1604G>A (p.Arg535Gln)
 dbSNP gnomAD v2 gnomAD v4
Xg.20164991G>ACA412514201RPS6KA3c.1672C>T (p.Arg558Ter)
c.1585C>T (p.Arg529Ter)
c.1588C>T (p.Arg530Ter)
c.1290C>T (n.1290C>T)
c.*893C>T (n.*893C>T)
n.369-30C>T
c.1669C>T (p.Arg557Ter)
c.1582C>T (p.Arg528Ter)
c.1690C>T (p.Arg564Ter)
c.1687C>T (p.Arg563Ter)
c.1606C>T (p.Arg536Ter)
c.1603C>T (p.Arg535Ter)
 ClinVar COSMIC
Xg.20164991G>CCA412514202RPS6KA3c.1672C>G (p.Arg558Gly)
c.1585C>G (p.Arg529Gly)
c.1588C>G (p.Arg530Gly)
c.1290C>G (n.1290C>G)
c.*893C>G (n.*893C>G)
n.369-30C>G
c.1669C>G (p.Arg557Gly)
c.1582C>G (p.Arg528Gly)
c.1690C>G (p.Arg564Gly)
c.1687C>G (p.Arg563Gly)
c.1606C>G (p.Arg536Gly)
c.1603C>G (p.Arg535Gly)
Xg.20164991G>TCA515613788RPS6KA3c.1672C>A (p.Arg558=)
c.1585C>A (p.Arg529=)
c.1588C>A (p.Arg530=)
c.1290C>A (n.1290C>A)
c.*893C>A (n.*893C>A)
n.369-30C>A
c.1669C>A (p.Arg557=)
c.1582C>A (p.Arg528=)
c.1690C>A (p.Arg564=)
c.1687C>A (p.Arg563=)
c.1606C>A (p.Arg536=)
c.1603C>A (p.Arg535=)
Xg.20164992A>CCA412514203RPS6KA3c.1671T>G (p.Ile557Met)
c.1584T>G (p.Ile528Met)
c.1587T>G (p.Ile529Met)
c.1289T>G (n.1289T>G)
c.*892T>G (n.*892T>G)
n.369-31T>G
c.1668T>G (p.Ile556Met)
c.1581T>G (p.Ile527Met)
c.1689T>G (p.Ile563Met)
c.1686T>G (p.Ile562Met)
c.1605T>G (p.Ile535Met)
c.1602T>G (p.Ile534Met)
Xg.20164992A>GCA515613792RPS6KA3c.1671T>C (p.Ile557=)
c.1584T>C (p.Ile528=)
c.1587T>C (p.Ile529=)
c.1289T>C (n.1289T>C)
c.*892T>C (n.*892T>C)
n.369-31T>C
c.1668T>C (p.Ile556=)
c.1581T>C (p.Ile527=)
c.1689T>C (p.Ile563=)
c.1686T>C (p.Ile562=)
c.1605T>C (p.Ile535=)
c.1602T>C (p.Ile534=)
Xg.20164992A>TCA515613793RPS6KA3c.1671T>A (p.Ile557=)
c.1584T>A (p.Ile528=)
c.1587T>A (p.Ile529=)
c.1289T>A (n.1289T>A)
c.*892T>A (n.*892T>A)
n.369-31T>A
c.1668T>A (p.Ile556=)
c.1581T>A (p.Ile527=)
c.1689T>A (p.Ile563=)
c.1686T>A (p.Ile562=)
c.1605T>A (p.Ile535=)
c.1602T>A (p.Ile534=)
Xg.20164993A>CCA412514204RPS6KA3c.1670T>G (p.Ile557Ser)
c.1583T>G (p.Ile528Ser)
c.1586T>G (p.Ile529Ser)
c.1288T>G (n.1288T>G)
c.*891T>G (n.*891T>G)
n.369-32T>G
c.1667T>G (p.Ile556Ser)
c.1580T>G (p.Ile527Ser)
c.1688T>G (p.Ile563Ser)
c.1685T>G (p.Ile562Ser)
c.1604T>G (p.Ile535Ser)
c.1601T>G (p.Ile534Ser)
Xg.20164993A>GCA412514205RPS6KA3c.1670T>C (p.Ile557Thr)
c.1583T>C (p.Ile528Thr)
c.1586T>C (p.Ile529Thr)
c.1288T>C (n.1288T>C)
c.*891T>C (n.*891T>C)
n.369-32T>C
c.1667T>C (p.Ile556Thr)
c.1580T>C (p.Ile527Thr)
c.1688T>C (p.Ile563Thr)
c.1685T>C (p.Ile562Thr)
c.1604T>C (p.Ile535Thr)
c.1601T>C (p.Ile534Thr)
Xg.20164993A>TCA412514206RPS6KA3c.1670T>A (p.Ile557Asn)
c.1583T>A (p.Ile528Asn)
c.1586T>A (p.Ile529Asn)
c.1288T>A (n.1288T>A)
c.*891T>A (n.*891T>A)
n.369-32T>A
c.1667T>A (p.Ile556Asn)
c.1580T>A (p.Ile527Asn)
c.1688T>A (p.Ile563Asn)
c.1685T>A (p.Ile562Asn)
c.1604T>A (p.Ile535Asn)
c.1601T>A (p.Ile534Asn)
Xg.20164994T>ACA412514207RPS6KA3c.1669A>T (p.Ile557Phe)
c.1582A>T (p.Ile528Phe)
c.1585A>T (p.Ile529Phe)
c.1287A>T (n.1287A>T)
c.*890A>T (n.*890A>T)
n.369-33A>T
c.1666A>T (p.Ile556Phe)
c.1579A>T (p.Ile527Phe)
c.1687A>T (p.Ile563Phe)
c.1684A>T (p.Ile562Phe)
c.1603A>T (p.Ile535Phe)
c.1600A>T (p.Ile534Phe)
Xg.20164994T>CCA412514208RPS6KA3c.1669A>G (p.Ile557Val)
c.1582A>G (p.Ile528Val)
c.1585A>G (p.Ile529Val)
c.1287A>G (n.1287A>G)
c.*890A>G (n.*890A>G)
n.369-33A>G
c.1666A>G (p.Ile556Val)
c.1579A>G (p.Ile527Val)
c.1687A>G (p.Ile563Val)
c.1684A>G (p.Ile562Val)
c.1603A>G (p.Ile535Val)
c.1600A>G (p.Ile534Val)
Xg.20164994T>GCA412514209RPS6KA3c.1669A>C (p.Ile557Leu)
c.1582A>C (p.Ile528Leu)
c.1585A>C (p.Ile529Leu)
c.1287A>C (n.1287A>C)
c.*890A>C (n.*890A>C)
n.369-33A>C
c.1666A>C (p.Ile556Leu)
c.1579A>C (p.Ile527Leu)
c.1687A>C (p.Ile563Leu)
c.1684A>C (p.Ile562Leu)
c.1603A>C (p.Ile535Leu)
c.1600A>C (p.Ile534Leu)
Xg.20164995A>CCA515613794RPS6KA3c.1668T>G (p.Ser556=)
c.1581T>G (p.Ser527=)
c.1584T>G (p.Ser528=)
c.1286T>G (n.1286T>G)
c.*889T>G (n.*889T>G)
n.369-34T>G
c.1665T>G (p.Ser555=)
c.1578T>G (p.Ser526=)
c.1686T>G (p.Ser562=)
c.1683T>G (p.Ser561=)
c.1602T>G (p.Ser534=)
c.1599T>G (p.Ser533=)
 gnomAD v4
Xg.20164995A>GCA515613795RPS6KA3c.1668T>C (p.Ser556=)
c.1581T>C (p.Ser527=)
c.1584T>C (p.Ser528=)
c.1286T>C (n.1286T>C)
c.*889T>C (n.*889T>C)
n.369-34T>C
c.1665T>C (p.Ser555=)
c.1578T>C (p.Ser526=)
c.1686T>C (p.Ser562=)
c.1683T>C (p.Ser561=)
c.1602T>C (p.Ser534=)
c.1599T>C (p.Ser533=)
 gnomAD v4
Xg.20164995A>TCA515613796RPS6KA3c.1668T>A (p.Ser556=)
c.1581T>A (p.Ser527=)
c.1584T>A (p.Ser528=)
c.1286T>A (n.1286T>A)
c.*889T>A (n.*889T>A)
n.369-34T>A
c.1665T>A (p.Ser555=)
c.1578T>A (p.Ser526=)
c.1686T>A (p.Ser562=)
c.1683T>A (p.Ser561=)
c.1602T>A (p.Ser534=)
c.1599T>A (p.Ser533=)
Xg.20164996G>ACA412514212RPS6KA3c.1667C>T (p.Ser556Phe)
c.1580C>T (p.Ser527Phe)
c.1583C>T (p.Ser528Phe)
c.1285C>T (n.1285C>T)
c.*888C>T (n.*888C>T)
n.369-35C>T
c.1664C>T (p.Ser555Phe)
c.1577C>T (p.Ser526Phe)
c.1685C>T (p.Ser562Phe)
c.1682C>T (p.Ser561Phe)
c.1601C>T (p.Ser534Phe)
c.1598C>T (p.Ser533Phe)
Xg.20164996G>CCA412514211RPS6KA3c.1667C>G (p.Ser556Cys)
c.1580C>G (p.Ser527Cys)
c.1583C>G (p.Ser528Cys)
c.1285C>G (n.1285C>G)
c.*888C>G (n.*888C>G)
n.369-35C>G
c.1664C>G (p.Ser555Cys)
c.1577C>G (p.Ser526Cys)
c.1685C>G (p.Ser562Cys)
c.1682C>G (p.Ser561Cys)
c.1601C>G (p.Ser534Cys)
c.1598C>G (p.Ser533Cys)
 gnomAD v4
Xg.20164996G>TCA412514210RPS6KA3c.1667C>A (p.Ser556Tyr)
c.1580C>A (p.Ser527Tyr)
c.1583C>A (p.Ser528Tyr)
c.1285C>A (n.1285C>A)
c.*888C>A (n.*888C>A)
n.369-35C>A
c.1664C>A (p.Ser555Tyr)
c.1577C>A (p.Ser526Tyr)
c.1685C>A (p.Ser562Tyr)
c.1682C>A (p.Ser561Tyr)
c.1601C>A (p.Ser534Tyr)
c.1598C>A (p.Ser533Tyr)
Xg.20164997A>CCA412514213RPS6KA3c.1666T>G (p.Ser556Ala)
c.1579T>G (p.Ser527Ala)
c.1582T>G (p.Ser528Ala)
c.1284T>G (n.1284T>G)
c.*887T>G (n.*887T>G)
n.369-36T>G
c.1663T>G (p.Ser555Ala)
c.1576T>G (p.Ser526Ala)
c.1684T>G (p.Ser562Ala)
c.1681T>G (p.Ser561Ala)
c.1600T>G (p.Ser534Ala)
c.1597T>G (p.Ser533Ala)
Xg.20164997A>GCA412514214RPS6KA3c.1666T>C (p.Ser556Pro)
c.1579T>C (p.Ser527Pro)
c.1582T>C (p.Ser528Pro)
c.1284T>C (n.1284T>C)
c.*887T>C (n.*887T>C)
n.369-36T>C
c.1663T>C (p.Ser555Pro)
c.1576T>C (p.Ser526Pro)
c.1684T>C (p.Ser562Pro)
c.1681T>C (p.Ser561Pro)
c.1600T>C (p.Ser534Pro)
c.1597T>C (p.Ser533Pro)
Xg.20164997A>TCA412514215RPS6KA3c.1666T>A (p.Ser556Thr)
c.1579T>A (p.Ser527Thr)
c.1582T>A (p.Ser528Thr)
c.1284T>A (n.1284T>A)
c.*887T>A (n.*887T>A)
n.369-36T>A
c.1663T>A (p.Ser555Thr)
c.1576T>A (p.Ser526Thr)
c.1684T>A (p.Ser562Thr)
c.1681T>A (p.Ser561Thr)
c.1600T>A (p.Ser534Thr)
c.1597T>A (p.Ser533Thr)
Xg.20164998T>ACA412514216RPS6KA3c.1665A>T (p.Glu555Asp)
c.1578A>T (p.Glu526Asp)
c.1581A>T (p.Glu527Asp)
c.1283A>T (n.1283A>T)
c.*886A>T (n.*886A>T)
n.369-37A>T
c.1662A>T (p.Glu554Asp)
c.1575A>T (p.Glu525Asp)
c.1683A>T (p.Glu561Asp)
c.1680A>T (p.Glu560Asp)
c.1599A>T (p.Glu533Asp)
c.1596A>T (p.Glu532Asp)
Xg.20164998T>CCA515613800RPS6KA3c.1665A>G (p.Glu555=)
c.1578A>G (p.Glu526=)
c.1581A>G (p.Glu527=)
c.1283A>G (n.1283A>G)
c.*886A>G (n.*886A>G)
n.369-37A>G
c.1662A>G (p.Glu554=)
c.1575A>G (p.Glu525=)
c.1683A>G (p.Glu561=)
c.1680A>G (p.Glu560=)
c.1599A>G (p.Glu533=)
c.1596A>G (p.Glu532=)
Xg.20164998T>GCA412514217RPS6KA3c.1665A>C (p.Glu555Asp)
c.1578A>C (p.Glu526Asp)
c.1581A>C (p.Glu527Asp)
c.1283A>C (n.1283A>C)
c.*886A>C (n.*886A>C)
n.369-37A>C
c.1662A>C (p.Glu554Asp)
c.1575A>C (p.Glu525Asp)
c.1683A>C (p.Glu561Asp)
c.1680A>C (p.Glu560Asp)
c.1599A>C (p.Glu533Asp)
c.1596A>C (p.Glu532Asp)
Xg.20164999T>ACA412514218RPS6KA3c.1664A>T (p.Glu555Val)
c.1577A>T (p.Glu526Val)
c.1580A>T (p.Glu527Val)
c.1282A>T (n.1282A>T)
c.*885A>T (n.*885A>T)
n.369-38A>T
c.1661A>T (p.Glu554Val)
c.1574A>T (p.Glu525Val)
c.1682A>T (p.Glu561Val)
c.1679A>T (p.Glu560Val)
c.1598A>T (p.Glu533Val)
c.1595A>T (p.Glu532Val)
Xg.20164999T>CCA412514219RPS6KA3c.1664A>G (p.Glu555Gly)
c.1577A>G (p.Glu526Gly)
c.1580A>G (p.Glu527Gly)
c.1282A>G (n.1282A>G)
c.*885A>G (n.*885A>G)
n.369-38A>G
c.1661A>G (p.Glu554Gly)
c.1574A>G (p.Glu525Gly)
c.1682A>G (p.Glu561Gly)
c.1679A>G (p.Glu560Gly)
c.1598A>G (p.Glu533Gly)
c.1595A>G (p.Glu532Gly)
Xg.20164999T>GCA412514220RPS6KA3c.1664A>C (p.Glu555Ala)
c.1577A>C (p.Glu526Ala)
c.1580A>C (p.Glu527Ala)
c.1282A>C (n.1282A>C)
c.*885A>C (n.*885A>C)
n.369-38A>C
c.1661A>C (p.Glu554Ala)
c.1574A>C (p.Glu525Ala)
c.1682A>C (p.Glu561Ala)
c.1679A>C (p.Glu560Ala)
c.1598A>C (p.Glu533Ala)
c.1595A>C (p.Glu532Ala)
Xg.20165000C>ACA412514221RPS6KA3c.1663G>T (p.Glu555Ter)
c.1576G>T (p.Glu526Ter)
c.1579G>T (p.Glu527Ter)
c.1281G>T (n.1281G>T)
c.*884G>T (n.*884G>T)
n.369-39G>T
c.1660G>T (p.Glu554Ter)
c.1573G>T (p.Glu525Ter)
c.1681G>T (p.Glu561Ter)
c.1678G>T (p.Glu560Ter)
c.1597G>T (p.Glu533Ter)
c.1594G>T (p.Glu532Ter)
Xg.20165000C>GCA412514222RPS6KA3c.1663G>C (p.Glu555Gln)
c.1576G>C (p.Glu526Gln)
c.1579G>C (p.Glu527Gln)
c.1281G>C (n.1281G>C)
c.*884G>C (n.*884G>C)
n.369-39G>C
c.1660G>C (p.Glu554Gln)
c.1573G>C (p.Glu525Gln)
c.1681G>C (p.Glu561Gln)
c.1678G>C (p.Glu560Gln)
c.1597G>C (p.Glu533Gln)
c.1594G>C (p.Glu532Gln)
Xg.20165000C>TCA412514223RPS6KA3c.1663G>A (p.Glu555Lys)
c.1576G>A (p.Glu526Lys)
c.1579G>A (p.Glu527Lys)
c.1281G>A (n.1281G>A)
c.*884G>A (n.*884G>A)
n.369-39G>A
c.1660G>A (p.Glu554Lys)
c.1573G>A (p.Glu525Lys)
c.1681G>A (p.Glu561Lys)
c.1678G>A (p.Glu560Lys)
c.1597G>A (p.Glu533Lys)
c.1594G>A (p.Glu532Lys)
Xg.20165001C>ACA515613804RPS6KA3c.1662G>T (p.Pro554=)
c.1575G>T (p.Pro525=)
c.1578G>T (p.Pro526=)
c.1280G>T (n.1280G>T)
c.*883G>T (n.*883G>T)
n.369-40G>T
c.1659G>T (p.Pro553=)
c.1572G>T (p.Pro524=)
c.1680G>T (p.Pro560=)
c.1677G>T (p.Pro559=)
c.1596G>T (p.Pro532=)
c.1593G>T (p.Pro531=)
Xg.20165001C=CA2418505970RPS6KA3c.1662G= (p.Pro554=)
c.1575G= (p.Pro525=)
c.1578G= (p.Pro526=)
c.1280G= (n.1280G=)
c.*883G= (n.*883G=)
n.369-40G=
c.1659G= (p.Pro553=)
c.1572G= (p.Pro524=)
c.1680G= (p.Pro560=)
c.1677G= (p.Pro559=)
c.1596G= (p.Pro532=)
c.1593G= (p.Pro531=)
Xg.20165001C>GCA515613805RPS6KA3c.1662G>C (p.Pro554=)
c.1575G>C (p.Pro525=)
c.1578G>C (p.Pro526=)
c.1280G>C (n.1280G>C)
c.*883G>C (n.*883G>C)
n.369-40G>C
c.1659G>C (p.Pro553=)
c.1572G>C (p.Pro524=)
c.1680G>C (p.Pro560=)
c.1677G>C (p.Pro559=)
c.1596G>C (p.Pro532=)
c.1593G>C (p.Pro531=)
Xg.20165001C>TCA10366079RPS6KA3c.1662G>A (p.Pro554=)
c.1575G>A (p.Pro525=)
c.1578G>A (p.Pro526=)
c.1280G>A (n.1280G>A)
c.*883G>A (n.*883G>A)
n.369-40G>A
c.1659G>A (p.Pro553=)
c.1572G>A (p.Pro524=)
c.1680G>A (p.Pro560=)
c.1677G>A (p.Pro559=)
c.1596G>A (p.Pro532=)
c.1593G>A (p.Pro531=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.20165002G>ACA412514224RPS6KA3c.1661C>T (p.Pro554Leu)
c.1574C>T (p.Pro525Leu)
c.1577C>T (p.Pro526Leu)
c.1279C>T (n.1279C>T)
c.*882C>T (n.*882C>T)
n.369-41C>T
c.1658C>T (p.Pro553Leu)
c.1571C>T (p.Pro524Leu)
c.1679C>T (p.Pro560Leu)
c.1676C>T (p.Pro559Leu)
c.1595C>T (p.Pro532Leu)
c.1592C>T (p.Pro531Leu)
 ClinVar dbSNP
Xg.20165002G>CCA412514226RPS6KA3c.1661C>G (p.Pro554Arg)
c.1574C>G (p.Pro525Arg)
c.1577C>G (p.Pro526Arg)
c.1279C>G (n.1279C>G)
c.*882C>G (n.*882C>G)
n.369-41C>G
c.1658C>G (p.Pro553Arg)
c.1571C>G (p.Pro524Arg)
c.1679C>G (p.Pro560Arg)
c.1676C>G (p.Pro559Arg)
c.1595C>G (p.Pro532Arg)
c.1592C>G (p.Pro531Arg)
Xg.20165002G>TCA412514225RPS6KA3c.1661C>A (p.Pro554Gln)
c.1574C>A (p.Pro525Gln)
c.1577C>A (p.Pro526Gln)
c.1279C>A (n.1279C>A)
c.*882C>A (n.*882C>A)
n.369-41C>A
c.1658C>A (p.Pro553Gln)
c.1571C>A (p.Pro524Gln)
c.1679C>A (p.Pro560Gln)
c.1676C>A (p.Pro559Gln)
c.1595C>A (p.Pro532Gln)
c.1592C>A (p.Pro531Gln)
Xg.20165003G>ACA412514227RPS6KA3c.1660C>T (p.Pro554Ser)
c.1573C>T (p.Pro525Ser)
c.1576C>T (p.Pro526Ser)
c.1278C>T (n.1278C>T)
c.*881C>T (n.*881C>T)
n.369-42C>T
c.1657C>T (p.Pro553Ser)
c.1570C>T (p.Pro524Ser)
c.1678C>T (p.Pro560Ser)
c.1675C>T (p.Pro559Ser)
c.1594C>T (p.Pro532Ser)
c.1591C>T (p.Pro531Ser)
 COSMIC
Xg.20165003G>CCA412514229RPS6KA3c.1660C>G (p.Pro554Ala)
c.1573C>G (p.Pro525Ala)
c.1576C>G (p.Pro526Ala)
c.1278C>G (n.1278C>G)
c.*881C>G (n.*881C>G)
n.369-42C>G
c.1657C>G (p.Pro553Ala)
c.1570C>G (p.Pro524Ala)
c.1678C>G (p.Pro560Ala)
c.1675C>G (p.Pro559Ala)
c.1594C>G (p.Pro532Ala)
c.1591C>G (p.Pro531Ala)
Xg.20165003G>TCA412514228RPS6KA3c.1660C>A (p.Pro554Thr)
c.1573C>A (p.Pro525Thr)
c.1576C>A (p.Pro526Thr)
c.1278C>A (n.1278C>A)
c.*881C>A (n.*881C>A)
n.369-42C>A
c.1657C>A (p.Pro553Thr)
c.1570C>A (p.Pro524Thr)
c.1678C>A (p.Pro560Thr)
c.1675C>A (p.Pro559Thr)
c.1594C>A (p.Pro532Thr)
c.1591C>A (p.Pro531Thr)
Xg.20165004A>CCA412514230RPS6KA3c.1659T>G (p.Asn553Lys)
c.1572T>G (p.Asn524Lys)
c.1575T>G (p.Asn525Lys)
c.1277T>G (n.1277T>G)
c.*880T>G (n.*880T>G)
n.369-43T>G
c.1656T>G (p.Asn552Lys)
c.1569T>G (p.Asn523Lys)
c.1677T>G (p.Asn559Lys)
c.1674T>G (p.Asn558Lys)
c.1593T>G (p.Asn531Lys)
c.1590T>G (p.Asn530Lys)
Xg.20165004A>GCA515613808RPS6KA3c.1659T>C (p.Asn553=)
c.1572T>C (p.Asn524=)
c.1575T>C (p.Asn525=)
c.1277T>C (n.1277T>C)
c.*880T>C (n.*880T>C)
n.369-43T>C
c.1656T>C (p.Asn552=)
c.1569T>C (p.Asn523=)
c.1677T>C (p.Asn559=)
c.1674T>C (p.Asn558=)
c.1593T>C (p.Asn531=)
c.1590T>C (p.Asn530=)
 gnomAD v4
Xg.20165004A>TCA412514231RPS6KA3c.1659T>A (p.Asn553Lys)
c.1572T>A (p.Asn524Lys)
c.1575T>A (p.Asn525Lys)
c.1277T>A (n.1277T>A)
c.*880T>A (n.*880T>A)
n.369-43T>A
c.1656T>A (p.Asn552Lys)
c.1569T>A (p.Asn523Lys)
c.1677T>A (p.Asn559Lys)
c.1674T>A (p.Asn558Lys)
c.1593T>A (p.Asn531Lys)
c.1590T>A (p.Asn530Lys)
Xg.20165005T>ACA412514232RPS6KA3c.1658A>T (p.Asn553Ile)
c.1571A>T (p.Asn524Ile)
c.1574A>T (p.Asn525Ile)
c.1276A>T (n.1276A>T)
c.*879A>T (n.*879A>T)
n.369-44A>T
c.1655A>T (p.Asn552Ile)
c.1568A>T (p.Asn523Ile)
c.1676A>T (p.Asn559Ile)
c.1673A>T (p.Asn558Ile)
c.1592A>T (p.Asn531Ile)
c.1589A>T (p.Asn530Ile)
Xg.20165005T>CCA412514233RPS6KA3c.1658A>G (p.Asn553Ser)
c.1571A>G (p.Asn524Ser)
c.1574A>G (p.Asn525Ser)
c.1276A>G (n.1276A>G)
c.*879A>G (n.*879A>G)
n.369-44A>G
c.1655A>G (p.Asn552Ser)
c.1568A>G (p.Asn523Ser)
c.1676A>G (p.Asn559Ser)
c.1673A>G (p.Asn558Ser)
c.1592A>G (p.Asn531Ser)
c.1589A>G (p.Asn530Ser)
 gnomAD v4
Xg.20165005T>GCA412514234RPS6KA3c.1658A>C (p.Asn553Thr)
c.1571A>C (p.Asn524Thr)
c.1574A>C (p.Asn525Thr)
c.1276A>C (n.1276A>C)
c.*879A>C (n.*879A>C)
n.369-44A>C
c.1655A>C (p.Asn552Thr)
c.1568A>C (p.Asn523Thr)
c.1676A>C (p.Asn559Thr)
c.1673A>C (p.Asn558Thr)
c.1592A>C (p.Asn531Thr)
c.1589A>C (p.Asn530Thr)
Xg.20165006T>ACA412514235RPS6KA3c.1657A>T (p.Asn553Tyr)
c.1570A>T (p.Asn524Tyr)
c.1573A>T (p.Asn525Tyr)
c.1275A>T (n.1275A>T)
c.*878A>T (n.*878A>T)
n.369-45A>T
c.1654A>T (p.Asn552Tyr)
c.1567A>T (p.Asn523Tyr)
c.1675A>T (p.Asn559Tyr)
c.1672A>T (p.Asn558Tyr)
c.1591A>T (p.Asn531Tyr)
c.1588A>T (p.Asn530Tyr)
Xg.20165006T>CCA412514236RPS6KA3c.1657A>G (p.Asn553Asp)
c.1570A>G (p.Asn524Asp)
c.1573A>G (p.Asn525Asp)
c.1275A>G (n.1275A>G)
c.*878A>G (n.*878A>G)
n.369-45A>G
c.1654A>G (p.Asn552Asp)
c.1567A>G (p.Asn523Asp)
c.1675A>G (p.Asn559Asp)
c.1672A>G (p.Asn558Asp)
c.1591A>G (p.Asn531Asp)
c.1588A>G (p.Asn530Asp)
 gnomAD v4
Xg.20165006T>GCA412514237RPS6KA3c.1657A>C (p.Asn553His)
c.1570A>C (p.Asn524His)
c.1573A>C (p.Asn525His)
c.1275A>C (n.1275A>C)
c.*878A>C (n.*878A>C)
n.369-45A>C
c.1654A>C (p.Asn552His)
c.1567A>C (p.Asn523His)
c.1675A>C (p.Asn559His)
c.1672A>C (p.Asn558His)
c.1591A>C (p.Asn531His)
c.1588A>C (p.Asn530His)
Xg.20165007A>CCA515613812RPS6KA3c.1656T>G (p.Gly552=)
c.1569T>G (p.Gly523=)
c.1572T>G (p.Gly524=)
c.1274T>G (n.1274T>G)
c.*877T>G (n.*877T>G)
n.369-46T>G
c.1653T>G (p.Gly551=)
c.1566T>G (p.Gly522=)
c.1674T>G (p.Gly558=)
c.1671T>G (p.Gly557=)
c.1590T>G (p.Gly530=)
c.1587T>G (p.Gly529=)
Xg.20165007A>GCA515613813RPS6KA3c.1656T>C (p.Gly552=)
c.1569T>C (p.Gly523=)
c.1572T>C (p.Gly524=)
c.1274T>C (n.1274T>C)
c.*877T>C (n.*877T>C)
n.369-46T>C
c.1653T>C (p.Gly551=)
c.1566T>C (p.Gly522=)
c.1674T>C (p.Gly558=)
c.1671T>C (p.Gly557=)
c.1590T>C (p.Gly530=)
c.1587T>C (p.Gly529=)
 gnomAD v4
Xg.20165007A>TCA515613814RPS6KA3c.1656T>A (p.Gly552=)
c.1569T>A (p.Gly523=)
c.1572T>A (p.Gly524=)
c.1274T>A (n.1274T>A)
c.*877T>A (n.*877T>A)
n.369-46T>A
c.1653T>A (p.Gly551=)
c.1566T>A (p.Gly522=)
c.1674T>A (p.Gly558=)
c.1671T>A (p.Gly557=)
c.1590T>A (p.Gly530=)
c.1587T>A (p.Gly529=)
Xg.20165008C>ACA412514238RPS6KA3c.1655G>T (p.Gly552Val)
c.1568G>T (p.Gly523Val)
c.1571G>T (p.Gly524Val)
c.1273G>T (n.1273G>T)
c.*876G>T (n.*876G>T)
n.369-47G>T
c.1652G>T (p.Gly551Val)
c.1565G>T (p.Gly522Val)
c.1673G>T (p.Gly558Val)
c.1670G>T (p.Gly557Val)
c.1589G>T (p.Gly530Val)
c.1586G>T (p.Gly529Val)
Xg.20165008C>GCA412514239RPS6KA3c.1655G>C (p.Gly552Ala)
c.1568G>C (p.Gly523Ala)
c.1571G>C (p.Gly524Ala)
c.1273G>C (n.1273G>C)
c.*876G>C (n.*876G>C)
n.369-47G>C
c.1652G>C (p.Gly551Ala)
c.1565G>C (p.Gly522Ala)
c.1673G>C (p.Gly558Ala)
c.1670G>C (p.Gly557Ala)
c.1589G>C (p.Gly530Ala)
c.1586G>C (p.Gly529Ala)
Xg.20165008C>TCA412514240RPS6KA3c.1655G>A (p.Gly552Asp)
c.1568G>A (p.Gly523Asp)
c.1571G>A (p.Gly524Asp)
c.1273G>A (n.1273G>A)
c.*876G>A (n.*876G>A)
n.369-47G>A
c.1652G>A (p.Gly551Asp)
c.1565G>A (p.Gly522Asp)
c.1673G>A (p.Gly558Asp)
c.1670G>A (p.Gly557Asp)
c.1589G>A (p.Gly530Asp)
c.1586G>A (p.Gly529Asp)
Xg.20165009C>ACA412514241RPS6KA3c.1654G>T (p.Gly552Cys)
c.1567G>T (p.Gly523Cys)
c.1570G>T (p.Gly524Cys)
c.1272G>T (n.1272G>T)
c.*875G>T (n.*875G>T)
n.369-48G>T
c.1651G>T (p.Gly551Cys)
c.1564G>T (p.Gly522Cys)
c.1672G>T (p.Gly558Cys)
c.1669G>T (p.Gly557Cys)
c.1588G>T (p.Gly530Cys)
c.1585G>T (p.Gly529Cys)
Xg.20165009C>GCA412514242RPS6KA3c.1654G>C (p.Gly552Arg)
c.1567G>C (p.Gly523Arg)
c.1570G>C (p.Gly524Arg)
c.1272G>C (n.1272G>C)
c.*875G>C (n.*875G>C)
n.369-48G>C
c.1651G>C (p.Gly551Arg)
c.1564G>C (p.Gly522Arg)
c.1672G>C (p.Gly558Arg)
c.1669G>C (p.Gly557Arg)
c.1588G>C (p.Gly530Arg)
c.1585G>C (p.Gly529Arg)
Xg.20165009C>TCA412514243RPS6KA3c.1654G>A (p.Gly552Ser)
c.1567G>A (p.Gly523Ser)
c.1570G>A (p.Gly524Ser)
c.1272G>A (n.1272G>A)
c.*875G>A (n.*875G>A)
n.369-48G>A
c.1651G>A (p.Gly551Ser)
c.1564G>A (p.Gly522Ser)
c.1672G>A (p.Gly558Ser)
c.1669G>A (p.Gly557Ser)
c.1588G>A (p.Gly530Ser)
c.1585G>A (p.Gly529Ser)
Xg.20165010A>CCA515613815RPS6KA3c.1653T>G (p.Ser551=)
c.1566T>G (p.Ser522=)
c.1569T>G (p.Ser523=)
c.1271T>G (n.1271T>G)
c.*874T>G (n.*874T>G)
n.369-49T>G
c.1650T>G (p.Ser550=)
c.1563T>G (p.Ser521=)
c.1671T>G (p.Ser557=)
c.1668T>G (p.Ser556=)
c.1587T>G (p.Ser529=)
c.1584T>G (p.Ser528=)
Xg.20165010A>GCA515613816RPS6KA3c.1653T>C (p.Ser551=)
c.1566T>C (p.Ser522=)
c.1569T>C (p.Ser523=)
c.1271T>C (n.1271T>C)
c.*874T>C (n.*874T>C)
n.369-49T>C
c.1650T>C (p.Ser550=)
c.1563T>C (p.Ser521=)
c.1671T>C (p.Ser557=)
c.1668T>C (p.Ser556=)
c.1587T>C (p.Ser529=)
c.1584T>C (p.Ser528=)
 gnomAD v4
Xg.20165010A>TCA515613818RPS6KA3c.1653T>A (p.Ser551=)
c.1566T>A (p.Ser522=)
c.1569T>A (p.Ser523=)
c.1271T>A (n.1271T>A)
c.*874T>A (n.*874T>A)
n.369-49T>A
c.1650T>A (p.Ser550=)
c.1563T>A (p.Ser521=)
c.1671T>A (p.Ser557=)
c.1668T>A (p.Ser556=)
c.1587T>A (p.Ser529=)
c.1584T>A (p.Ser528=)
Xg.20165011G>ACA412514246RPS6KA3c.1652C>T (p.Ser551Phe)
c.1565C>T (p.Ser522Phe)
c.1568C>T (p.Ser523Phe)
c.1270C>T (n.1270C>T)
c.*873C>T (n.*873C>T)
n.369-50C>T
c.1649C>T (p.Ser550Phe)
c.1562C>T (p.Ser521Phe)
c.1670C>T (p.Ser557Phe)
c.1667C>T (p.Ser556Phe)
c.1586C>T (p.Ser529Phe)
c.1583C>T (p.Ser528Phe)
Xg.20165011G>CCA412514244RPS6KA3c.1652C>G (p.Ser551Cys)
c.1565C>G (p.Ser522Cys)
c.1568C>G (p.Ser523Cys)
c.1270C>G (n.1270C>G)
c.*873C>G (n.*873C>G)
n.369-50C>G
c.1649C>G (p.Ser550Cys)
c.1562C>G (p.Ser521Cys)
c.1670C>G (p.Ser557Cys)
c.1667C>G (p.Ser556Cys)
c.1586C>G (p.Ser529Cys)
c.1583C>G (p.Ser528Cys)
Xg.20165011G>TCA412514245RPS6KA3c.1652C>A (p.Ser551Tyr)
c.1565C>A (p.Ser522Tyr)
c.1568C>A (p.Ser523Tyr)
c.1270C>A (n.1270C>A)
c.*873C>A (n.*873C>A)
n.369-50C>A
c.1649C>A (p.Ser550Tyr)
c.1562C>A (p.Ser521Tyr)
c.1670C>A (p.Ser557Tyr)
c.1667C>A (p.Ser556Tyr)
c.1586C>A (p.Ser529Tyr)
c.1583C>A (p.Ser528Tyr)
Xg.20165012A>CCA412514247RPS6KA3c.1651T>G (p.Ser551Ala)
c.1564T>G (p.Ser522Ala)
c.1567T>G (p.Ser523Ala)
c.1269T>G (n.1269T>G)
c.*872T>G (n.*872T>G)
n.369-51T>G
c.1648T>G (p.Ser550Ala)
c.1561T>G (p.Ser521Ala)
c.1669T>G (p.Ser557Ala)
c.1666T>G (p.Ser556Ala)
c.1585T>G (p.Ser529Ala)
c.1582T>G (p.Ser528Ala)
Xg.20165012A>GCA412514248RPS6KA3c.1651T>C (p.Ser551Pro)
c.1564T>C (p.Ser522Pro)
c.1567T>C (p.Ser523Pro)
c.1269T>C (n.1269T>C)
c.*872T>C (n.*872T>C)
n.369-51T>C
c.1648T>C (p.Ser550Pro)
c.1561T>C (p.Ser521Pro)
c.1669T>C (p.Ser557Pro)
c.1666T>C (p.Ser556Pro)
c.1585T>C (p.Ser529Pro)
c.1582T>C (p.Ser528Pro)
Xg.20165012A>TCA412514249RPS6KA3c.1651T>A (p.Ser551Thr)
c.1564T>A (p.Ser522Thr)
c.1567T>A (p.Ser523Thr)
c.1269T>A (n.1269T>A)
c.*872T>A (n.*872T>A)
n.369-51T>A
c.1648T>A (p.Ser550Thr)
c.1561T>A (p.Ser521Thr)
c.1669T>A (p.Ser557Thr)
c.1666T>A (p.Ser556Thr)
c.1585T>A (p.Ser529Thr)
c.1582T>A (p.Ser528Thr)
Xg.20165013T>ACA412514250RPS6KA3c.1650A>T (p.Glu550Asp)
c.1563A>T (p.Glu521Asp)
c.1566A>T (p.Glu522Asp)
c.1268A>T (n.1268A>T)
c.*871A>T (n.*871A>T)
n.369-52A>T
c.1647A>T (p.Glu549Asp)
c.1560A>T (p.Glu520Asp)
c.1668A>T (p.Glu556Asp)
c.1665A>T (p.Glu555Asp)
c.1584A>T (p.Glu528Asp)
c.1581A>T (p.Glu527Asp)
Xg.20165013T>CCA515613821RPS6KA3c.1650A>G (p.Glu550=)
c.1563A>G (p.Glu521=)
c.1566A>G (p.Glu522=)
c.1268A>G (n.1268A>G)
c.*871A>G (n.*871A>G)
n.369-52A>G
c.1647A>G (p.Glu549=)
c.1560A>G (p.Glu520=)
c.1668A>G (p.Glu556=)
c.1665A>G (p.Glu555=)
c.1584A>G (p.Glu528=)
c.1581A>G (p.Glu527=)
Xg.20165013T>GCA412514251RPS6KA3c.1650A>C (p.Glu550Asp)
c.1563A>C (p.Glu521Asp)
c.1566A>C (p.Glu522Asp)
c.1268A>C (n.1268A>C)
c.*871A>C (n.*871A>C)
n.369-52A>C
c.1647A>C (p.Glu549Asp)
c.1560A>C (p.Glu520Asp)
c.1668A>C (p.Glu556Asp)
c.1665A>C (p.Glu555Asp)
c.1584A>C (p.Glu528Asp)
c.1581A>C (p.Glu527Asp)
Xg.20165014delCA2579569143RPS6KA3c.1650del (p.Glu550AspfsTer19)
c.1563del (p.Glu521AspfsTer19)
c.1566del (p.Glu522AspfsTer19)
c.1268del (n.1268del)
c.*871del (n.*871del)
n.369-52del
c.1647del (p.Glu549AspfsTer19)
c.1560del (p.Glu520AspfsTer19)
c.1668del (p.Glu556AspfsTer19)
c.1665del (p.Glu555AspfsTer19)
c.1584del (p.Glu528AspfsTer19)
c.1581del (p.Glu527AspfsTer19)
Xg.20165014T>ACA412514252RPS6KA3c.1649A>T (p.Glu550Val)
c.1562A>T (p.Glu521Val)
c.1565A>T (p.Glu522Val)
c.1267A>T (n.1267A>T)
c.*870A>T (n.*870A>T)
n.369-53A>T
c.1646A>T (p.Glu549Val)
c.1559A>T (p.Glu520Val)
c.1667A>T (p.Glu556Val)
c.1664A>T (p.Glu555Val)
c.1583A>T (p.Glu528Val)
c.1580A>T (p.Glu527Val)
Xg.20165014T>CCA412514253RPS6KA3c.1649A>G (p.Glu550Gly)
c.1562A>G (p.Glu521Gly)
c.1565A>G (p.Glu522Gly)
c.1267A>G (n.1267A>G)
c.*870A>G (n.*870A>G)
n.369-53A>G
c.1646A>G (p.Glu549Gly)
c.1559A>G (p.Glu520Gly)
c.1667A>G (p.Glu556Gly)
c.1664A>G (p.Glu555Gly)
c.1583A>G (p.Glu528Gly)
c.1580A>G (p.Glu527Gly)
Xg.20165014T>GCA412514254RPS6KA3c.1649A>C (p.Glu550Ala)
c.1562A>C (p.Glu521Ala)
c.1565A>C (p.Glu522Ala)
c.1267A>C (n.1267A>C)
c.*870A>C (n.*870A>C)
n.369-53A>C
c.1646A>C (p.Glu549Ala)
c.1559A>C (p.Glu520Ala)
c.1667A>C (p.Glu556Ala)
c.1664A>C (p.Glu555Ala)
c.1583A>C (p.Glu528Ala)
c.1580A>C (p.Glu527Ala)
Xg.20165015C>ACA412514255RPS6KA3c.1648G>T (p.Glu550Ter)
c.1561G>T (p.Glu521Ter)
c.1564G>T (p.Glu522Ter)
c.1266G>T (n.1266G>T)
c.*869G>T (n.*869G>T)
n.369-54G>T
c.1645G>T (p.Glu549Ter)
c.1558G>T (p.Glu520Ter)
c.1666G>T (p.Glu556Ter)
c.1663G>T (p.Glu555Ter)
c.1582G>T (p.Glu528Ter)
c.1579G>T (p.Glu527Ter)
Xg.20165015C>GCA412514256RPS6KA3c.1648G>C (p.Glu550Gln)
c.1561G>C (p.Glu521Gln)
c.1564G>C (p.Glu522Gln)
c.1266G>C (n.1266G>C)
c.*869G>C (n.*869G>C)
n.369-54G>C
c.1645G>C (p.Glu549Gln)
c.1558G>C (p.Glu520Gln)
c.1666G>C (p.Glu556Gln)
c.1663G>C (p.Glu555Gln)
c.1582G>C (p.Glu528Gln)
c.1579G>C (p.Glu527Gln)
Xg.20165015C>TCA412514257RPS6KA3c.1648G>A (p.Glu550Lys)
c.1561G>A (p.Glu521Lys)
c.1564G>A (p.Glu522Lys)
c.1266G>A (n.1266G>A)
c.*869G>A (n.*869G>A)
n.369-54G>A
c.1645G>A (p.Glu549Lys)
c.1558G>A (p.Glu520Lys)
c.1666G>A (p.Glu556Lys)
c.1663G>A (p.Glu555Lys)
c.1582G>A (p.Glu528Lys)
c.1579G>A (p.Glu527Lys)
Xg.20165016A>CCA412514259RPS6KA3c.1647T>G (p.Asp549Glu)
c.1560T>G (p.Asp520Glu)
c.1563T>G (p.Asp521Glu)
c.1265T>G (n.1265T>G)
c.*868T>G (n.*868T>G)
n.369-55T>G
c.1644T>G (p.Asp548Glu)
c.1557T>G (p.Asp519Glu)
c.1665T>G (p.Asp555Glu)
c.1662T>G (p.Asp554Glu)
c.1581T>G (p.Asp527Glu)
c.1578T>G (p.Asp526Glu)
Xg.20165016A>GCA515613825RPS6KA3c.1647T>C (p.Asp549=)
c.1560T>C (p.Asp520=)
c.1563T>C (p.Asp521=)
c.1265T>C (n.1265T>C)
c.*868T>C (n.*868T>C)
n.369-55T>C
c.1644T>C (p.Asp548=)
c.1557T>C (p.Asp519=)
c.1665T>C (p.Asp555=)
c.1662T>C (p.Asp554=)
c.1581T>C (p.Asp527=)
c.1578T>C (p.Asp526=)
Xg.20165016A>TCA412514258RPS6KA3c.1647T>A (p.Asp549Glu)
c.1560T>A (p.Asp520Glu)
c.1563T>A (p.Asp521Glu)
c.1265T>A (n.1265T>A)
c.*868T>A (n.*868T>A)
n.369-55T>A
c.1644T>A (p.Asp548Glu)
c.1557T>A (p.Asp519Glu)
c.1665T>A (p.Asp555Glu)
c.1662T>A (p.Asp554Glu)
c.1581T>A (p.Asp527Glu)
c.1578T>A (p.Asp526Glu)
Xg.20165017T>ACA412514260RPS6KA3c.1646A>T (p.Asp549Val)
c.1559A>T (p.Asp520Val)
c.1562A>T (p.Asp521Val)
c.1264A>T (n.1264A>T)
c.*867A>T (n.*867A>T)
n.369-56A>T
c.1643A>T (p.Asp548Val)
c.1556A>T (p.Asp519Val)
c.1664A>T (p.Asp555Val)
c.1661A>T (p.Asp554Val)
c.1580A>T (p.Asp527Val)
c.1577A>T (p.Asp526Val)
Xg.20165017T>CCA412514261RPS6KA3c.1646A>G (p.Asp549Gly)
c.1559A>G (p.Asp520Gly)
c.1562A>G (p.Asp521Gly)
c.1264A>G (n.1264A>G)
c.*867A>G (n.*867A>G)
n.369-56A>G
c.1643A>G (p.Asp548Gly)
c.1556A>G (p.Asp519Gly)
c.1664A>G (p.Asp555Gly)
c.1661A>G (p.Asp554Gly)
c.1580A>G (p.Asp527Gly)
c.1577A>G (p.Asp526Gly)
Xg.20165017T>GCA412514262RPS6KA3c.1646A>C (p.Asp549Ala)
c.1559A>C (p.Asp520Ala)
c.1562A>C (p.Asp521Ala)
c.1264A>C (n.1264A>C)
c.*867A>C (n.*867A>C)
n.369-56A>C
c.1643A>C (p.Asp548Ala)
c.1556A>C (p.Asp519Ala)
c.1664A>C (p.Asp555Ala)
c.1661A>C (p.Asp554Ala)
c.1580A>C (p.Asp527Ala)
c.1577A>C (p.Asp526Ala)
Xg.20165018C>ACA412514263RPS6KA3c.1645G>T (p.Asp549Tyr)
c.1558G>T (p.Asp520Tyr)
c.1561G>T (p.Asp521Tyr)
c.1263G>T (n.1263G>T)
c.*866G>T (n.*866G>T)
n.369-57G>T
c.1642G>T (p.Asp548Tyr)
c.1555G>T (p.Asp519Tyr)
c.1663G>T (p.Asp555Tyr)
c.1660G>T (p.Asp554Tyr)
c.1579G>T (p.Asp527Tyr)
c.1576G>T (p.Asp526Tyr)
Xg.20165018C>GCA412514264RPS6KA3c.1645G>C (p.Asp549His)
c.1558G>C (p.Asp520His)
c.1561G>C (p.Asp521His)
c.1263G>C (n.1263G>C)
c.*866G>C (n.*866G>C)
n.369-57G>C
c.1642G>C (p.Asp548His)
c.1555G>C (p.Asp519His)
c.1663G>C (p.Asp555His)
c.1660G>C (p.Asp554His)
c.1579G>C (p.Asp527His)
c.1576G>C (p.Asp526His)
Xg.20165018C>TCA412514265RPS6KA3c.1645G>A (p.Asp549Asn)
c.1558G>A (p.Asp520Asn)
c.1561G>A (p.Asp521Asn)
c.1263G>A (n.1263G>A)
c.*866G>A (n.*866G>A)
n.369-57G>A
c.1642G>A (p.Asp548Asn)
c.1555G>A (p.Asp519Asn)
c.1663G>A (p.Asp555Asn)
c.1660G>A (p.Asp554Asn)
c.1579G>A (p.Asp527Asn)
c.1576G>A (p.Asp526Asn)
Xg.20165019C>ACA10366080RPS6KA3c.1644G>T (p.Val548=)
c.1557G>T (p.Val519=)
c.1560G>T (p.Val520=)
c.1262G>T (n.1262G>T)
c.*865G>T (n.*865G>T)
n.369-58G>T
c.1641G>T (p.Val547=)
c.1554G>T (p.Val518=)
c.1662G>T (p.Val554=)
c.1659G>T (p.Val553=)
c.1578G>T (p.Val526=)
c.1575G>T (p.Val525=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.20165019C=CA2418505971RPS6KA3c.1644G= (p.Val548=)
c.1557G= (p.Val519=)
c.1560G= (p.Val520=)
c.1262G= (n.1262G=)
c.*865G= (n.*865G=)
n.369-58G=
c.1641G= (p.Val547=)
c.1554G= (p.Val518=)
c.1662G= (p.Val554=)
c.1659G= (p.Val553=)
c.1578G= (p.Val526=)
c.1575G= (p.Val525=)
Xg.20165019C>GCA515613828RPS6KA3c.1644G>C (p.Val548=)
c.1557G>C (p.Val519=)
c.1560G>C (p.Val520=)
c.1262G>C (n.1262G>C)
c.*865G>C (n.*865G>C)
n.369-58G>C
c.1641G>C (p.Val547=)
c.1554G>C (p.Val518=)
c.1662G>C (p.Val554=)
c.1659G>C (p.Val553=)
c.1578G>C (p.Val526=)
c.1575G>C (p.Val525=)
Xg.20165019C>TCA515613830RPS6KA3c.1644G>A (p.Val548=)
c.1557G>A (p.Val519=)
c.1560G>A (p.Val520=)
c.1262G>A (n.1262G>A)
c.*865G>A (n.*865G>A)
n.369-58G>A
c.1641G>A (p.Val547=)
c.1554G>A (p.Val518=)
c.1662G>A (p.Val554=)
c.1659G>A (p.Val553=)
c.1578G>A (p.Val526=)
c.1575G>A (p.Val525=)
Xg.20165020A>CCA412514266RPS6KA3c.1643T>G (p.Val548Gly)
c.1556T>G (p.Val519Gly)
c.1559T>G (p.Val520Gly)
c.1261T>G (n.1261T>G)
c.*864T>G (n.*864T>G)
n.369-59T>G
c.1640T>G (p.Val547Gly)
c.1553T>G (p.Val518Gly)
c.1661T>G (p.Val554Gly)
c.1658T>G (p.Val553Gly)
c.1577T>G (p.Val526Gly)
c.1574T>G (p.Val525Gly)
Xg.20165020A>GCA412514267RPS6KA3c.1643T>C (p.Val548Ala)
c.1556T>C (p.Val519Ala)
c.1559T>C (p.Val520Ala)
c.1261T>C (n.1261T>C)
c.*864T>C (n.*864T>C)
n.369-59T>C
c.1640T>C (p.Val547Ala)
c.1553T>C (p.Val518Ala)
c.1661T>C (p.Val554Ala)
c.1658T>C (p.Val553Ala)
c.1577T>C (p.Val526Ala)
c.1574T>C (p.Val525Ala)
Xg.20165020A>TCA412514268RPS6KA3c.1643T>A (p.Val548Glu)
c.1556T>A (p.Val519Glu)
c.1559T>A (p.Val520Glu)
c.1261T>A (n.1261T>A)
c.*864T>A (n.*864T>A)
n.369-59T>A
c.1640T>A (p.Val547Glu)
c.1553T>A (p.Val518Glu)
c.1661T>A (p.Val554Glu)
c.1658T>A (p.Val553Glu)
c.1577T>A (p.Val526Glu)
c.1574T>A (p.Val525Glu)
Xg.20165021C>ACA412514269RPS6KA3c.1642G>T (p.Val548Leu)
c.1555G>T (p.Val519Leu)
c.1558G>T (p.Val520Leu)
c.1260G>T (n.1260G>T)
c.*863G>T (n.*863G>T)
n.369-60G>T
c.1639G>T (p.Val547Leu)
c.1552G>T (p.Val518Leu)
c.1660G>T (p.Val554Leu)
c.1657G>T (p.Val553Leu)
c.1576G>T (p.Val526Leu)
c.1573G>T (p.Val525Leu)
Xg.20165021C>GCA412514270RPS6KA3c.1642G>C (p.Val548Leu)
c.1555G>C (p.Val519Leu)
c.1558G>C (p.Val520Leu)
c.1260G>C (n.1260G>C)
c.*863G>C (n.*863G>C)
n.369-60G>C
c.1639G>C (p.Val547Leu)
c.1552G>C (p.Val518Leu)
c.1660G>C (p.Val554Leu)
c.1657G>C (p.Val553Leu)
c.1576G>C (p.Val526Leu)
c.1573G>C (p.Val525Leu)
Xg.20165021C>TCA412514271RPS6KA3c.1642G>A (p.Val548Met)
c.1555G>A (p.Val519Met)
c.1558G>A (p.Val520Met)
c.1260G>A (n.1260G>A)
c.*863G>A (n.*863G>A)
n.369-60G>A
c.1639G>A (p.Val547Met)
c.1552G>A (p.Val518Met)
c.1660G>A (p.Val554Met)
c.1657G>A (p.Val553Met)
c.1576G>A (p.Val526Met)
c.1573G>A (p.Val525Met)
Xg.20165022A>CCA412514273RPS6KA3c.1641T>G (p.Tyr547Ter)
c.1554T>G (p.Tyr518Ter)
c.1557T>G (p.Tyr519Ter)
c.1259T>G (n.1259T>G)
c.*862T>G (n.*862T>G)
n.369-61T>G
c.1638T>G (p.Tyr546Ter)
c.1551T>G (p.Tyr517Ter)
c.1659T>G (p.Tyr553Ter)
c.1656T>G (p.Tyr552Ter)
c.1575T>G (p.Tyr525Ter)
c.1572T>G (p.Tyr524Ter)
Xg.20165022A>GCA515613831RPS6KA3c.1641T>C (p.Tyr547=)
c.1554T>C (p.Tyr518=)
c.1557T>C (p.Tyr519=)
c.1259T>C (n.1259T>C)
c.*862T>C (n.*862T>C)
n.369-61T>C
c.1638T>C (p.Tyr546=)
c.1551T>C (p.Tyr517=)
c.1659T>C (p.Tyr553=)
c.1656T>C (p.Tyr552=)
c.1575T>C (p.Tyr525=)
c.1572T>C (p.Tyr524=)
Xg.20165022A>TCA412514272RPS6KA3c.1641T>A (p.Tyr547Ter)
c.1554T>A (p.Tyr518Ter)
c.1557T>A (p.Tyr519Ter)
c.1259T>A (n.1259T>A)
c.*862T>A (n.*862T>A)
n.369-61T>A
c.1638T>A (p.Tyr546Ter)
c.1551T>A (p.Tyr517Ter)
c.1659T>A (p.Tyr553Ter)
c.1656T>A (p.Tyr552Ter)
c.1575T>A (p.Tyr525Ter)
c.1572T>A (p.Tyr524Ter)
Xg.20165023T>ACA412514274RPS6KA3c.1640A>T (p.Tyr547Phe)
c.1553A>T (p.Tyr518Phe)
c.1556A>T (p.Tyr519Phe)
c.1258A>T (n.1258A>T)
c.*861A>T (n.*861A>T)
n.369-62A>T
c.1637A>T (p.Tyr546Phe)
c.1550A>T (p.Tyr517Phe)
c.1658A>T (p.Tyr553Phe)
c.1655A>T (p.Tyr552Phe)
c.1574A>T (p.Tyr525Phe)
c.1571A>T (p.Tyr524Phe)
Xg.20165023T>CCA412514275RPS6KA3c.1640A>G (p.Tyr547Cys)
c.1553A>G (p.Tyr518Cys)
c.1556A>G (p.Tyr519Cys)
c.1258A>G (n.1258A>G)
c.*861A>G (n.*861A>G)
n.369-62A>G
c.1637A>G (p.Tyr546Cys)
c.1550A>G (p.Tyr517Cys)
c.1658A>G (p.Tyr553Cys)
c.1655A>G (p.Tyr552Cys)
c.1574A>G (p.Tyr525Cys)
c.1571A>G (p.Tyr524Cys)
Xg.20165023T>GCA412514276RPS6KA3c.1640A>C (p.Tyr547Ser)
c.1553A>C (p.Tyr518Ser)
c.1556A>C (p.Tyr519Ser)
c.1258A>C (n.1258A>C)
c.*861A>C (n.*861A>C)
n.369-62A>C
c.1637A>C (p.Tyr546Ser)
c.1550A>C (p.Tyr517Ser)
c.1658A>C (p.Tyr553Ser)
c.1655A>C (p.Tyr552Ser)
c.1574A>C (p.Tyr525Ser)
c.1571A>C (p.Tyr524Ser)
Xg.20165024A>CCA412514277RPS6KA3c.1639T>G (p.Tyr547Asp)
c.1552T>G (p.Tyr518Asp)
c.1555T>G (p.Tyr519Asp)
c.1257T>G (n.1257T>G)
c.*860T>G (n.*860T>G)
n.369-63T>G
c.1636T>G (p.Tyr546Asp)
c.1549T>G (p.Tyr517Asp)
c.1657T>G (p.Tyr553Asp)
c.1654T>G (p.Tyr552Asp)
c.1573T>G (p.Tyr525Asp)
c.1570T>G (p.Tyr524Asp)
Xg.20165024A>GCA412514278RPS6KA3c.1639T>C (p.Tyr547His)
c.1552T>C (p.Tyr518His)
c.1555T>C (p.Tyr519His)
c.1257T>C (n.1257T>C)
c.*860T>C (n.*860T>C)
n.369-63T>C
c.1636T>C (p.Tyr546His)
c.1549T>C (p.Tyr517His)
c.1657T>C (p.Tyr553His)
c.1654T>C (p.Tyr552His)
c.1573T>C (p.Tyr525His)
c.1570T>C (p.Tyr524His)
Xg.20165024A>TCA412514279RPS6KA3c.1639T>A (p.Tyr547Asn)
c.1552T>A (p.Tyr518Asn)
c.1555T>A (p.Tyr519Asn)
c.1257T>A (n.1257T>A)
c.*860T>A (n.*860T>A)
n.369-63T>A
c.1636T>A (p.Tyr546Asn)
c.1549T>A (p.Tyr517Asn)
c.1657T>A (p.Tyr553Asn)
c.1654T>A (p.Tyr552Asn)
c.1573T>A (p.Tyr525Asn)
c.1570T>A (p.Tyr524Asn)
Xg.20165026delCA2579569144RPS6KA3c.1639del (p.Tyr547MetfsTer22)
c.1552del (p.Tyr518MetfsTer22)
c.1555del (p.Tyr519MetfsTer22)
c.1257del (n.1257del)
c.*860del (n.*860del)
n.369-63del
c.1636del (p.Tyr546MetfsTer22)
c.1549del (p.Tyr517MetfsTer22)
c.1657del (p.Tyr553MetfsTer22)
c.1654del (p.Tyr552MetfsTer22)
c.1573del (p.Tyr525MetfsTer22)
c.1570del (p.Tyr524MetfsTer22)
Xg.20165025A>CCA515613835RPS6KA3c.1638T>G (p.Leu546=)
c.1551T>G (p.Leu517=)
c.1554T>G (p.Leu518=)
c.1256T>G (n.1256T>G)
c.*859T>G (n.*859T>G)
n.369-64T>G
c.1635T>G (p.Leu545=)
c.1548T>G (p.Leu516=)
c.1656T>G (p.Leu552=)
c.1653T>G (p.Leu551=)
c.1572T>G (p.Leu524=)
c.1569T>G (p.Leu523=)
Xg.20165025A>GCA515613834RPS6KA3c.1638T>C (p.Leu546=)
c.1551T>C (p.Leu517=)
c.1554T>C (p.Leu518=)
c.1256T>C (n.1256T>C)
c.*859T>C (n.*859T>C)
n.369-64T>C
c.1635T>C (p.Leu545=)
c.1548T>C (p.Leu516=)
c.1656T>C (p.Leu552=)
c.1653T>C (p.Leu551=)
c.1572T>C (p.Leu524=)
c.1569T>C (p.Leu523=)
 gnomAD v4
Xg.20165025A>TCA515613836RPS6KA3c.1638T>A (p.Leu546=)
c.1551T>A (p.Leu517=)
c.1554T>A (p.Leu518=)
c.1256T>A (n.1256T>A)
c.*859T>A (n.*859T>A)
n.369-64T>A
c.1635T>A (p.Leu545=)
c.1548T>A (p.Leu516=)
c.1656T>A (p.Leu552=)
c.1653T>A (p.Leu551=)
c.1572T>A (p.Leu524=)
c.1569T>A (p.Leu523=)
Xg.20165025_20165027delinsCCA645601242RPS6KA3c.1636_1638delinsG (p.Leu546ValfsTer4)
c.1549_1551delinsG (p.Leu517ValfsTer4)
c.1552_1554delinsG (p.Leu518ValfsTer4)
c.1254_1256delinsG (n.1254_1256delinsG)
c.*857_*859delinsG (n.*857_*859delinsG)
n.369-66_369-64delinsG
c.1633_1635delinsG (p.Leu545ValfsTer4)
c.1546_1548delinsG (p.Leu516ValfsTer4)
c.1654_1656delinsG (p.Leu552ValfsTer4)
c.1651_1653delinsG (p.Leu551ValfsTer4)
c.1570_1572delinsG (p.Leu524ValfsTer4)
c.1567_1569delinsG (p.Leu523ValfsTer4)
 COSMIC
Xg.20165026A>CCA412514280RPS6KA3c.1637T>G (p.Leu546Arg)
c.1550T>G (p.Leu517Arg)
c.1553T>G (p.Leu518Arg)
c.1255T>G (n.1255T>G)
c.*858T>G (n.*858T>G)
n.369-65T>G
c.1634T>G (p.Leu545Arg)
c.1547T>G (p.Leu516Arg)
c.1655T>G (p.Leu552Arg)
c.1652T>G (p.Leu551Arg)
c.1571T>G (p.Leu524Arg)
c.1568T>G (p.Leu523Arg)
Xg.20165026A>GCA412514281RPS6KA3c.1637T>C (p.Leu546Pro)
c.1550T>C (p.Leu517Pro)
c.1553T>C (p.Leu518Pro)
c.1255T>C (n.1255T>C)
c.*858T>C (n.*858T>C)
n.369-65T>C
c.1634T>C (p.Leu545Pro)
c.1547T>C (p.Leu516Pro)
c.1655T>C (p.Leu552Pro)
c.1652T>C (p.Leu551Pro)
c.1571T>C (p.Leu524Pro)
c.1568T>C (p.Leu523Pro)
Xg.20165026A>TCA412514282RPS6KA3c.1637T>A (p.Leu546His)
c.1550T>A (p.Leu517His)
c.1553T>A (p.Leu518His)
c.1255T>A (n.1255T>A)
c.*858T>A (n.*858T>A)
n.369-65T>A
c.1634T>A (p.Leu545His)
c.1547T>A (p.Leu516His)
c.1655T>A (p.Leu552His)
c.1652T>A (p.Leu551His)
c.1571T>A (p.Leu524His)
c.1568T>A (p.Leu523His)
Xg.20165027G>ACA412514283RPS6KA3c.1636C>T (p.Leu546Phe)
c.1549C>T (p.Leu517Phe)
c.1552C>T (p.Leu518Phe)
c.1254C>T (n.1254C>T)
c.*857C>T (n.*857C>T)
n.369-66C>T
c.1633C>T (p.Leu545Phe)
c.1546C>T (p.Leu516Phe)
c.1654C>T (p.Leu552Phe)
c.1651C>T (p.Leu551Phe)
c.1570C>T (p.Leu524Phe)
c.1567C>T (p.Leu523Phe)
Xg.20165027G>CCA412514284RPS6KA3c.1636C>G (p.Leu546Val)
c.1549C>G (p.Leu517Val)
c.1552C>G (p.Leu518Val)
c.1254C>G (n.1254C>G)
c.*857C>G (n.*857C>G)
n.369-66C>G
c.1633C>G (p.Leu545Val)
c.1546C>G (p.Leu516Val)
c.1654C>G (p.Leu552Val)
c.1651C>G (p.Leu551Val)
c.1570C>G (p.Leu524Val)
c.1567C>G (p.Leu523Val)
Xg.20165027G>TCA412514285RPS6KA3c.1636C>A (p.Leu546Ile)
c.1549C>A (p.Leu517Ile)
c.1552C>A (p.Leu518Ile)
c.1254C>A (n.1254C>A)
c.*857C>A (n.*857C>A)
n.369-66C>A
c.1633C>A (p.Leu545Ile)
c.1546C>A (p.Leu516Ile)
c.1654C>A (p.Leu552Ile)
c.1651C>A (p.Leu551Ile)
c.1570C>A (p.Leu524Ile)
c.1567C>A (p.Leu523Ile)
Xg.20165028A>CCA412514286RPS6KA3c.1635T>G (p.Ile545Met)
c.1548T>G (p.Ile516Met)
c.1551T>G (p.Ile517Met)
c.1253T>G (n.1253T>G)
c.*856T>G (n.*856T>G)
n.369-67T>G
c.1632T>G (p.Ile544Met)
c.1545T>G (p.Ile515Met)
c.1653T>G (p.Ile551Met)
c.1650T>G (p.Ile550Met)
c.1569T>G (p.Ile523Met)
c.1566T>G (p.Ile522Met)
 gnomAD v4
Xg.20165028A>GCA515613837RPS6KA3c.1635T>C (p.Ile545=)
c.1548T>C (p.Ile516=)
c.1551T>C (p.Ile517=)
c.1253T>C (n.1253T>C)
c.*856T>C (n.*856T>C)
n.369-67T>C
c.1632T>C (p.Ile544=)
c.1545T>C (p.Ile515=)
c.1653T>C (p.Ile551=)
c.1650T>C (p.Ile550=)
c.1569T>C (p.Ile523=)
c.1566T>C (p.Ile522=)
Xg.20165028A>TCA515613838RPS6KA3c.1635T>A (p.Ile545=)
c.1548T>A (p.Ile516=)
c.1551T>A (p.Ile517=)
c.1253T>A (n.1253T>A)
c.*856T>A (n.*856T>A)
n.369-67T>A
c.1632T>A (p.Ile544=)
c.1545T>A (p.Ile515=)
c.1653T>A (p.Ile551=)
c.1650T>A (p.Ile550=)
c.1569T>A (p.Ile523=)
c.1566T>A (p.Ile522=)
Xg.20165029A>CCA412514289RPS6KA3c.1634T>G (p.Ile545Ser)
c.1547T>G (p.Ile516Ser)
c.1550T>G (p.Ile517Ser)
c.1252T>G (n.1252T>G)
c.*855T>G (n.*855T>G)
n.369-68T>G
c.1631T>G (p.Ile544Ser)
c.1544T>G (p.Ile515Ser)
c.1652T>G (p.Ile551Ser)
c.1649T>G (p.Ile550Ser)
c.1568T>G (p.Ile523Ser)
c.1565T>G (p.Ile522Ser)
Xg.20165029A>GCA412514288RPS6KA3c.1634T>C (p.Ile545Thr)
c.1547T>C (p.Ile516Thr)
c.1550T>C (p.Ile517Thr)
c.1252T>C (n.1252T>C)
c.*855T>C (n.*855T>C)
n.369-68T>C
c.1631T>C (p.Ile544Thr)
c.1544T>C (p.Ile515Thr)
c.1652T>C (p.Ile551Thr)
c.1649T>C (p.Ile550Thr)
c.1568T>C (p.Ile523Thr)
c.1565T>C (p.Ile522Thr)
Xg.20165029A>TCA412514287RPS6KA3c.1634T>A (p.Ile545Asn)
c.1547T>A (p.Ile516Asn)
c.1550T>A (p.Ile517Asn)
c.1252T>A (n.1252T>A)
c.*855T>A (n.*855T>A)
n.369-68T>A
c.1631T>A (p.Ile544Asn)
c.1544T>A (p.Ile515Asn)
c.1652T>A (p.Ile551Asn)
c.1649T>A (p.Ile550Asn)
c.1568T>A (p.Ile523Asn)
c.1565T>A (p.Ile522Asn)
Xg.20165030T>ACA412514290RPS6KA3c.1633A>T (p.Ile545Phe)
c.1546A>T (p.Ile516Phe)
c.1549A>T (p.Ile517Phe)
c.1251A>T (n.1251A>T)
c.*854A>T (n.*854A>T)
n.369-69A>T
c.1630A>T (p.Ile544Phe)
c.1543A>T (p.Ile515Phe)
c.1651A>T (p.Ile551Phe)
c.1648A>T (p.Ile550Phe)
c.1567A>T (p.Ile523Phe)
c.1564A>T (p.Ile522Phe)
Xg.20165030T>CCA412514291RPS6KA3c.1633A>G (p.Ile545Val)
c.1546A>G (p.Ile516Val)
c.1549A>G (p.Ile517Val)
c.1251A>G (n.1251A>G)
c.*854A>G (n.*854A>G)
n.369-69A>G
c.1630A>G (p.Ile544Val)
c.1543A>G (p.Ile515Val)
c.1651A>G (p.Ile551Val)
c.1648A>G (p.Ile550Val)
c.1567A>G (p.Ile523Val)
c.1564A>G (p.Ile522Val)
 ClinVar dbSNP gnomAD v4
Xg.20165030T>GCA412514292RPS6KA3c.1633A>C (p.Ile545Leu)
c.1546A>C (p.Ile516Leu)
c.1549A>C (p.Ile517Leu)
c.1251A>C (n.1251A>C)
c.*854A>C (n.*854A>C)
n.369-69A>C
c.1630A>C (p.Ile544Leu)
c.1543A>C (p.Ile515Leu)
c.1651A>C (p.Ile551Leu)
c.1648A>C (p.Ile550Leu)
c.1567A>C (p.Ile523Leu)
c.1564A>C (p.Ile522Leu)
Xg.20165030T=CA2418505972RPS6KA3c.1633A= (p.Ile545=)
c.1546A= (p.Ile516=)
c.1549A= (p.Ile517=)
c.1251A= (n.1251A=)
c.*854A= (n.*854A=)
n.369-69A=
c.1630A= (p.Ile544=)
c.1543A= (p.Ile515=)
c.1651A= (p.Ile551=)
c.1648A= (p.Ile550=)
c.1567A= (p.Ile523=)
c.1564A= (p.Ile522=)
Xg.20165031G>ACA515613841RPS6KA3c.1632C>T (p.Asn544=)
c.1545C>T (p.Asn515=)
c.1548C>T (p.Asn516=)
c.1250C>T (n.1250C>T)
c.*853C>T (n.*853C>T)
n.369-70C>T
c.1629C>T (p.Asn543=)
c.1542C>T (p.Asn514=)
c.1650C>T (p.Asn550=)
c.1647C>T (p.Asn549=)
c.1566C>T (p.Asn522=)
c.1563C>T (p.Asn521=)
Xg.20165031G>CCA412514293RPS6KA3c.1632C>G (p.Asn544Lys)
c.1545C>G (p.Asn515Lys)
c.1548C>G (p.Asn516Lys)
c.1250C>G (n.1250C>G)
c.*853C>G (n.*853C>G)
n.369-70C>G
c.1629C>G (p.Asn543Lys)
c.1542C>G (p.Asn514Lys)
c.1650C>G (p.Asn550Lys)
c.1647C>G (p.Asn549Lys)
c.1566C>G (p.Asn522Lys)
c.1563C>G (p.Asn521Lys)
Xg.20165031G>TCA412514294RPS6KA3c.1632C>A (p.Asn544Lys)
c.1545C>A (p.Asn515Lys)
c.1548C>A (p.Asn516Lys)
c.1250C>A (n.1250C>A)
c.*853C>A (n.*853C>A)
n.369-70C>A
c.1629C>A (p.Asn543Lys)
c.1542C>A (p.Asn514Lys)
c.1650C>A (p.Asn550Lys)
c.1647C>A (p.Asn549Lys)
c.1566C>A (p.Asn522Lys)
c.1563C>A (p.Asn521Lys)
Xg.20165032T>ACA412514295RPS6KA3c.1631A>T (p.Asn544Ile)
c.1544A>T (p.Asn515Ile)
c.1547A>T (p.Asn516Ile)
c.1249A>T (n.1249A>T)
c.*852A>T (n.*852A>T)
n.369-71A>T
c.1628A>T (p.Asn543Ile)
c.1541A>T (p.Asn514Ile)
c.1649A>T (p.Asn550Ile)
c.1646A>T (p.Asn549Ile)
c.1565A>T (p.Asn522Ile)
c.1562A>T (p.Asn521Ile)
Xg.20165032T>CCA412514296RPS6KA3c.1631A>G (p.Asn544Ser)
c.1544A>G (p.Asn515Ser)
c.1547A>G (p.Asn516Ser)
c.1249A>G (n.1249A>G)
c.*852A>G (n.*852A>G)
n.369-71A>G
c.1628A>G (p.Asn543Ser)
c.1541A>G (p.Asn514Ser)
c.1649A>G (p.Asn550Ser)
c.1646A>G (p.Asn549Ser)
c.1565A>G (p.Asn522Ser)
c.1562A>G (p.Asn521Ser)
Xg.20165032T>GCA412514297RPS6KA3c.1631A>C (p.Asn544Thr)
c.1544A>C (p.Asn515Thr)
c.1547A>C (p.Asn516Thr)
c.1249A>C (n.1249A>C)
c.*852A>C (n.*852A>C)
n.369-71A>C
c.1628A>C (p.Asn543Thr)
c.1541A>C (p.Asn514Thr)
c.1649A>C (p.Asn550Thr)
c.1646A>C (p.Asn549Thr)
c.1565A>C (p.Asn522Thr)
c.1562A>C (p.Asn521Thr)
Xg.20165033T>ACA412514298RPS6KA3c.1630A>T (p.Asn544Tyr)
c.1543A>T (p.Asn515Tyr)
c.1546A>T (p.Asn516Tyr)
c.1248A>T (n.1248A>T)
c.*851A>T (n.*851A>T)
n.369-72A>T
c.1627A>T (p.Asn543Tyr)
c.1540A>T (p.Asn514Tyr)
c.1648A>T (p.Asn550Tyr)
c.1645A>T (p.Asn549Tyr)
c.1564A>T (p.Asn522Tyr)
c.1561A>T (p.Asn521Tyr)
Xg.20165033T>CCA412514299RPS6KA3c.1630A>G (p.Asn544Asp)
c.1543A>G (p.Asn515Asp)
c.1546A>G (p.Asn516Asp)
c.1248A>G (n.1248A>G)
c.*851A>G (n.*851A>G)
n.369-72A>G
c.1627A>G (p.Asn543Asp)
c.1540A>G (p.Asn514Asp)
c.1648A>G (p.Asn550Asp)
c.1645A>G (p.Asn549Asp)
c.1564A>G (p.Asn522Asp)
c.1561A>G (p.Asn521Asp)
Xg.20165033T>GCA412514300RPS6KA3c.1630A>C (p.Asn544His)
c.1543A>C (p.Asn515His)
c.1546A>C (p.Asn516His)
c.1248A>C (n.1248A>C)
c.*851A>C (n.*851A>C)
n.369-72A>C
c.1627A>C (p.Asn543His)
c.1540A>C (p.Asn514His)
c.1648A>C (p.Asn550His)
c.1645A>C (p.Asn549His)
c.1564A>C (p.Asn522His)
c.1561A>C (p.Asn521His)
Xg.20165034G>ACA515613842RPS6KA3c.1629C>T (p.Ser543=)
c.1542C>T (p.Ser514=)
c.1545C>T (p.Ser515=)
c.1247C>T (n.1247C>T)
c.*850C>T (n.*850C>T)
n.369-73C>T
c.1626C>T (p.Ser542=)
c.1539C>T (p.Ser513=)
c.1647C>T (p.Ser549=)
c.1644C>T (p.Ser548=)
c.1563C>T (p.Ser521=)
c.1560C>T (p.Ser520=)
 gnomAD v4
Xg.20165034G>CCA412514301RPS6KA3c.1629C>G (p.Ser543Arg)
c.1542C>G (p.Ser514Arg)
c.1545C>G (p.Ser515Arg)
c.1247C>G (n.1247C>G)
c.*850C>G (n.*850C>G)
n.369-73C>G
c.1626C>G (p.Ser542Arg)
c.1539C>G (p.Ser513Arg)
c.1647C>G (p.Ser549Arg)
c.1644C>G (p.Ser548Arg)
c.1563C>G (p.Ser521Arg)
c.1560C>G (p.Ser520Arg)
Xg.20165034G>TCA412514302RPS6KA3c.1629C>A (p.Ser543Arg)
c.1542C>A (p.Ser514Arg)
c.1545C>A (p.Ser515Arg)
c.1247C>A (n.1247C>A)
c.*850C>A (n.*850C>A)
n.369-73C>A
c.1626C>A (p.Ser542Arg)
c.1539C>A (p.Ser513Arg)
c.1647C>A (p.Ser549Arg)
c.1644C>A (p.Ser548Arg)
c.1563C>A (p.Ser521Arg)
c.1560C>A (p.Ser520Arg)
 gnomAD v4
Xg.20165035C>ACA412514305RPS6KA3c.1628G>T (p.Ser543Ile)
c.1541G>T (p.Ser514Ile)
c.1544G>T (p.Ser515Ile)
c.1246G>T (n.1246G>T)
c.*849G>T (n.*849G>T)
n.369-74G>T
c.1625G>T (p.Ser542Ile)
c.1538G>T (p.Ser513Ile)
c.1646G>T (p.Ser549Ile)
c.1643G>T (p.Ser548Ile)
c.1562G>T (p.Ser521Ile)
c.1559G>T (p.Ser520Ile)
Xg.20165035C>GCA412514304RPS6KA3c.1628G>C (p.Ser543Thr)
c.1541G>C (p.Ser514Thr)
c.1544G>C (p.Ser515Thr)
c.1246G>C (n.1246G>C)
c.*849G>C (n.*849G>C)
n.369-74G>C
c.1625G>C (p.Ser542Thr)
c.1538G>C (p.Ser513Thr)
c.1646G>C (p.Ser549Thr)
c.1643G>C (p.Ser548Thr)
c.1562G>C (p.Ser521Thr)
c.1559G>C (p.Ser520Thr)
Xg.20165035C>TCA412514303RPS6KA3c.1628G>A (p.Ser543Asn)
c.1541G>A (p.Ser514Asn)
c.1544G>A (p.Ser515Asn)
c.1246G>A (n.1246G>A)
c.*849G>A (n.*849G>A)
n.369-74G>A
c.1625G>A (p.Ser542Asn)
c.1538G>A (p.Ser513Asn)
c.1646G>A (p.Ser549Asn)
c.1643G>A (p.Ser548Asn)
c.1562G>A (p.Ser521Asn)
c.1559G>A (p.Ser520Asn)
Xg.20165036T>ACA412514306RPS6KA3c.1627A>T (p.Ser543Cys)
c.1540A>T (p.Ser514Cys)
c.1543A>T (p.Ser515Cys)
c.1245A>T (n.1245A>T)
c.*848A>T (n.*848A>T)
n.369-75A>T
c.1624A>T (p.Ser542Cys)
c.1537A>T (p.Ser513Cys)
c.1645A>T (p.Ser549Cys)
c.1642A>T (p.Ser548Cys)
c.1561A>T (p.Ser521Cys)
c.1558A>T (p.Ser520Cys)
Xg.20165036T>CCA412514307RPS6KA3c.1627A>G (p.Ser543Gly)
c.1540A>G (p.Ser514Gly)
c.1543A>G (p.Ser515Gly)
c.1245A>G (n.1245A>G)
c.*848A>G (n.*848A>G)
n.369-75A>G
c.1624A>G (p.Ser542Gly)
c.1537A>G (p.Ser513Gly)
c.1645A>G (p.Ser549Gly)
c.1642A>G (p.Ser548Gly)
c.1561A>G (p.Ser521Gly)
c.1558A>G (p.Ser520Gly)
Xg.20165036T>GCA412514308RPS6KA3c.1627A>C (p.Ser543Arg)
c.1540A>C (p.Ser514Arg)
c.1543A>C (p.Ser515Arg)
c.1245A>C (n.1245A>C)
c.*848A>C (n.*848A>C)
n.369-75A>C
c.1624A>C (p.Ser542Arg)
c.1537A>C (p.Ser513Arg)
c.1645A>C (p.Ser549Arg)
c.1642A>C (p.Ser548Arg)
c.1561A>C (p.Ser521Arg)
c.1558A>C (p.Ser520Arg)
Xg.20165037A>CCA515613845RPS6KA3c.1626T>G (p.Pro542=)
c.1539T>G (p.Pro513=)
c.1542T>G (p.Pro514=)
c.1244T>G (n.1244T>G)
c.*847T>G (n.*847T>G)
n.369-76T>G
c.1623T>G (p.Pro541=)
c.1536T>G (p.Pro512=)
c.1644T>G (p.Pro548=)
c.1641T>G (p.Pro547=)
c.1560T>G (p.Pro520=)
c.1557T>G (p.Pro519=)
Xg.20165037A>GCA515613847RPS6KA3c.1626T>C (p.Pro542=)
c.1539T>C (p.Pro513=)
c.1542T>C (p.Pro514=)
c.1244T>C (n.1244T>C)
c.*847T>C (n.*847T>C)
n.369-76T>C
c.1623T>C (p.Pro541=)
c.1536T>C (p.Pro512=)
c.1644T>C (p.Pro548=)
c.1641T>C (p.Pro547=)
c.1560T>C (p.Pro520=)
c.1557T>C (p.Pro519=)
Xg.20165037A>TCA515613848RPS6KA3c.1626T>A (p.Pro542=)
c.1539T>A (p.Pro513=)
c.1542T>A (p.Pro514=)
c.1244T>A (n.1244T>A)
c.*847T>A (n.*847T>A)
n.369-76T>A
c.1623T>A (p.Pro541=)
c.1536T>A (p.Pro512=)
c.1644T>A (p.Pro548=)
c.1641T>A (p.Pro547=)
c.1560T>A (p.Pro520=)
c.1557T>A (p.Pro519=)
Xg.20165038G>ACA10366081RPS6KA3c.1625C>T (p.Pro542Leu)
c.1538C>T (p.Pro513Leu)
c.1541C>T (p.Pro514Leu)
c.1243C>T (n.1243C>T)
c.*846C>T (n.*846C>T)
n.369-77C>T
c.1622C>T (p.Pro541Leu)
c.1535C>T (p.Pro512Leu)
c.1643C>T (p.Pro548Leu)
c.1640C>T (p.Pro547Leu)
c.1559C>T (p.Pro520Leu)
c.1556C>T (p.Pro519Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.20165038G>CCA412514309RPS6KA3c.1625C>G (p.Pro542Arg)
c.1538C>G (p.Pro513Arg)
c.1541C>G (p.Pro514Arg)
c.1243C>G (n.1243C>G)
c.*846C>G (n.*846C>G)
n.369-77C>G
c.1622C>G (p.Pro541Arg)
c.1535C>G (p.Pro512Arg)
c.1643C>G (p.Pro548Arg)
c.1640C>G (p.Pro547Arg)
c.1559C>G (p.Pro520Arg)
c.1556C>G (p.Pro519Arg)
Xg.20165038G=CA2418505973RPS6KA3c.1625C= (p.Pro542=)
c.1538C= (p.Pro513=)
c.1541C= (p.Pro514=)
c.1243C= (n.1243C=)
c.*846C= (n.*846C=)
n.369-77C=
c.1622C= (p.Pro541=)
c.1535C= (p.Pro512=)
c.1643C= (p.Pro548=)
c.1640C= (p.Pro547=)
c.1559C= (p.Pro520=)
c.1556C= (p.Pro519=)
Xg.20165038G>TCA412514310RPS6KA3c.1625C>A (p.Pro542His)
c.1538C>A (p.Pro513His)
c.1541C>A (p.Pro514His)
c.1243C>A (n.1243C>A)
c.*846C>A (n.*846C>A)
n.369-77C>A
c.1622C>A (p.Pro541His)
c.1535C>A (p.Pro512His)
c.1643C>A (p.Pro548His)
c.1640C>A (p.Pro547His)
c.1559C>A (p.Pro520His)
c.1556C>A (p.Pro519His)
 dbSNP gnomAD v4
Xg.20165039G>ACA412514311RPS6KA3c.1624C>T (p.Pro542Ser)
c.1537C>T (p.Pro513Ser)
c.1540C>T (p.Pro514Ser)
c.1242C>T (n.1242C>T)
c.*845C>T (n.*845C>T)
n.369-78C>T
c.1621C>T (p.Pro541Ser)
c.1534C>T (p.Pro512Ser)
c.1642C>T (p.Pro548Ser)
c.1639C>T (p.Pro547Ser)
c.1558C>T (p.Pro520Ser)
c.1555C>T (p.Pro519Ser)
 COSMIC
Xg.20165039G>CCA412514312RPS6KA3c.1624C>G (p.Pro542Ala)
c.1537C>G (p.Pro513Ala)
c.1540C>G (p.Pro514Ala)
c.1242C>G (n.1242C>G)
c.*845C>G (n.*845C>G)
n.369-78C>G
c.1621C>G (p.Pro541Ala)
c.1534C>G (p.Pro512Ala)
c.1642C>G (p.Pro548Ala)
c.1639C>G (p.Pro547Ala)
c.1558C>G (p.Pro520Ala)
c.1555C>G (p.Pro519Ala)
Xg.20165039G>TCA412514313RPS6KA3c.1624C>A (p.Pro542Thr)
c.1537C>A (p.Pro513Thr)
c.1540C>A (p.Pro514Thr)
c.1242C>A (n.1242C>A)
c.*845C>A (n.*845C>A)
n.369-78C>A
c.1621C>A (p.Pro541Thr)
c.1534C>A (p.Pro512Thr)
c.1642C>A (p.Pro548Thr)
c.1639C>A (p.Pro547Thr)
c.1558C>A (p.Pro520Thr)
c.1555C>A (p.Pro519Thr)
 gnomAD v4
Xg.20165040T>ACA412514314RPS6KA3c.1623A>T (p.Lys541Asn)
c.1536A>T (p.Lys512Asn)
c.1539A>T (p.Lys513Asn)
c.1241A>T (n.1241A>T)
c.*844A>T (n.*844A>T)
n.369-79A>T
c.1620A>T (p.Lys540Asn)
c.1533A>T (p.Lys511Asn)
c.1641A>T (p.Lys547Asn)
c.1638A>T (p.Lys546Asn)
c.1557A>T (p.Lys519Asn)
c.1554A>T (p.Lys518Asn)
Xg.20165040T>CCA515613849RPS6KA3c.1623A>G (p.Lys541=)
c.1536A>G (p.Lys512=)
c.1539A>G (p.Lys513=)
c.1241A>G (n.1241A>G)
c.*844A>G (n.*844A>G)
n.369-79A>G
c.1620A>G (p.Lys540=)
c.1533A>G (p.Lys511=)
c.1641A>G (p.Lys547=)
c.1638A>G (p.Lys546=)
c.1557A>G (p.Lys519=)
c.1554A>G (p.Lys518=)
Xg.20165040T>GCA412514315RPS6KA3c.1623A>C (p.Lys541Asn)
c.1536A>C (p.Lys512Asn)
c.1539A>C (p.Lys513Asn)
c.1241A>C (n.1241A>C)
c.*844A>C (n.*844A>C)
n.369-79A>C
c.1620A>C (p.Lys540Asn)
c.1533A>C (p.Lys511Asn)
c.1641A>C (p.Lys547Asn)
c.1638A>C (p.Lys546Asn)
c.1557A>C (p.Lys519Asn)
c.1554A>C (p.Lys518Asn)
Xg.20165041T>ACA412514316RPS6KA3c.1622A>T (p.Lys541Ile)
c.1535A>T (p.Lys512Ile)
c.1538A>T (p.Lys513Ile)
c.1240A>T (n.1240A>T)
c.*843A>T (n.*843A>T)
n.369-80A>T
c.1619A>T (p.Lys540Ile)
c.1532A>T (p.Lys511Ile)
c.1640A>T (p.Lys547Ile)
c.1637A>T (p.Lys546Ile)
c.1556A>T (p.Lys519Ile)
c.1553A>T (p.Lys518Ile)
Xg.20165041T>CCA412514317RPS6KA3c.1622A>G (p.Lys541Arg)
c.1535A>G (p.Lys512Arg)
c.1538A>G (p.Lys513Arg)
c.1240A>G (n.1240A>G)
c.*843A>G (n.*843A>G)
n.369-80A>G
c.1619A>G (p.Lys540Arg)
c.1532A>G (p.Lys511Arg)
c.1640A>G (p.Lys547Arg)
c.1637A>G (p.Lys546Arg)
c.1556A>G (p.Lys519Arg)
c.1553A>G (p.Lys518Arg)
Xg.20165041T>GCA412514318RPS6KA3c.1622A>C (p.Lys541Thr)
c.1535A>C (p.Lys512Thr)
c.1538A>C (p.Lys513Thr)
c.1240A>C (n.1240A>C)
c.*843A>C (n.*843A>C)
n.369-80A>C
c.1619A>C (p.Lys540Thr)
c.1532A>C (p.Lys511Thr)
c.1640A>C (p.Lys547Thr)
c.1637A>C (p.Lys546Thr)
c.1556A>C (p.Lys519Thr)
c.1553A>C (p.Lys518Thr)
 gnomAD v4
Xg.20165041_20165044delCA645601243RPS6KA3c.1619_1622del (p.Leu540TyrfsTer28)
c.1532_1535del (p.Leu511TyrfsTer28)
c.1535_1538del (p.Leu512TyrfsTer28)
c.1237_1240del (n.1237_1240del)
c.*840_*843del (n.*840_*843del)
n.369-83_369-80del
c.1616_1619del (p.Leu539TyrfsTer28)
c.1529_1532del (p.Leu510TyrfsTer28)
c.1637_1640del (p.Leu546TyrfsTer28)
c.1634_1637del (p.Leu545TyrfsTer28)
c.1553_1556del (p.Leu518TyrfsTer28)
c.1550_1553del (p.Leu517TyrfsTer28)
 COSMIC
Xg.20165042T>ACA412514320RPS6KA3c.1621A>T (p.Lys541Ter)
c.1534A>T (p.Lys512Ter)
c.1537A>T (p.Lys513Ter)
c.1239A>T (n.1239A>T)
c.*842A>T (n.*842A>T)
n.369-81A>T
c.1618A>T (p.Lys540Ter)
c.1531A>T (p.Lys511Ter)
c.1639A>T (p.Lys547Ter)
c.1636A>T (p.Lys546Ter)
c.1555A>T (p.Lys519Ter)
c.1552A>T (p.Lys518Ter)
Xg.20165042T>CCA412514321RPS6KA3c.1621A>G (p.Lys541Glu)
c.1534A>G (p.Lys512Glu)
c.1537A>G (p.Lys513Glu)
c.1239A>G (n.1239A>G)
c.*842A>G (n.*842A>G)
n.369-81A>G
c.1618A>G (p.Lys540Glu)
c.1531A>G (p.Lys511Glu)
c.1639A>G (p.Lys547Glu)
c.1636A>G (p.Lys546Glu)
c.1555A>G (p.Lys519Glu)
c.1552A>G (p.Lys518Glu)
Xg.20165042T>GCA412514319RPS6KA3c.1621A>C (p.Lys541Gln)
c.1534A>C (p.Lys512Gln)
c.1537A>C (p.Lys513Gln)
c.1239A>C (n.1239A>C)
c.*842A>C (n.*842A>C)
n.369-81A>C
c.1618A>C (p.Lys540Gln)
c.1531A>C (p.Lys511Gln)
c.1639A>C (p.Lys547Gln)
c.1636A>C (p.Lys546Gln)
c.1555A>C (p.Lys519Gln)
c.1552A>C (p.Lys518Gln)
Xg.20165043C>ACA412514322RPS6KA3c.1620G>T (p.Leu540Phe)
c.1533G>T (p.Leu511Phe)
c.1536G>T (p.Leu512Phe)
c.1238G>T (n.1238G>T)
c.*841G>T (n.*841G>T)
n.369-82G>T
c.1617G>T (p.Leu539Phe)
c.1530G>T (p.Leu510Phe)
c.1638G>T (p.Leu546Phe)
c.1635G>T (p.Leu545Phe)
c.1554G>T (p.Leu518Phe)
c.1551G>T (p.Leu517Phe)
Xg.20165043C=CA2418505974RPS6KA3c.1620G= (p.Leu540=)
c.1533G= (p.Leu511=)
c.1536G= (p.Leu512=)
c.1238G= (n.1238G=)
c.*841G= (n.*841G=)
n.369-82G=
c.1617G= (p.Leu539=)
c.1530G= (p.Leu510=)
c.1638G= (p.Leu546=)
c.1635G= (p.Leu545=)
c.1554G= (p.Leu518=)
c.1551G= (p.Leu517=)
Xg.20165043C>GCA412514323RPS6KA3c.1620G>C (p.Leu540Phe)
c.1533G>C (p.Leu511Phe)
c.1536G>C (p.Leu512Phe)
c.1238G>C (n.1238G>C)
c.*841G>C (n.*841G>C)
n.369-82G>C
c.1617G>C (p.Leu539Phe)
c.1530G>C (p.Leu510Phe)
c.1638G>C (p.Leu546Phe)
c.1635G>C (p.Leu545Phe)
c.1554G>C (p.Leu518Phe)
c.1551G>C (p.Leu517Phe)
Xg.20165043C>TCA327474165RPS6KA3c.1620G>A (p.Leu540=)
c.1533G>A (p.Leu511=)
c.1536G>A (p.Leu512=)
c.1238G>A (n.1238G>A)
c.*841G>A (n.*841G>A)
n.369-82G>A
c.1617G>A (p.Leu539=)
c.1530G>A (p.Leu510=)
c.1638G>A (p.Leu546=)
c.1635G>A (p.Leu545=)
c.1554G>A (p.Leu518=)
c.1551G>A (p.Leu517=)
 dbSNP gnomAD v3 gnomAD v4
Xg.20165044A>CCA412514324RPS6KA3c.1619T>G (p.Leu540Trp)
c.1532T>G (p.Leu511Trp)
c.1535T>G (p.Leu512Trp)
c.1237T>G (n.1237T>G)
c.*840T>G (n.*840T>G)
n.369-83T>G
c.1616T>G (p.Leu539Trp)
c.1529T>G (p.Leu510Trp)
c.1637T>G (p.Leu546Trp)
c.1634T>G (p.Leu545Trp)
c.1553T>G (p.Leu518Trp)
c.1550T>G (p.Leu517Trp)
Xg.20165044A>GCA412514325RPS6KA3c.1619T>C (p.Leu540Ser)
c.1532T>C (p.Leu511Ser)
c.1535T>C (p.Leu512Ser)
c.1237T>C (n.1237T>C)
c.*840T>C (n.*840T>C)
n.369-83T>C
c.1616T>C (p.Leu539Ser)
c.1529T>C (p.Leu510Ser)
c.1637T>C (p.Leu546Ser)
c.1634T>C (p.Leu545Ser)
c.1553T>C (p.Leu518Ser)
c.1550T>C (p.Leu517Ser)
Xg.20165044A>TCA412514326RPS6KA3c.1619T>A (p.Leu540Ter)
c.1532T>A (p.Leu511Ter)
c.1535T>A (p.Leu512Ter)
c.1237T>A (n.1237T>A)
c.*840T>A (n.*840T>A)
n.369-83T>A
c.1616T>A (p.Leu539Ter)
c.1529T>A (p.Leu510Ter)
c.1637T>A (p.Leu546Ter)
c.1634T>A (p.Leu545Ter)
c.1553T>A (p.Leu518Ter)
c.1550T>A (p.Leu517Ter)
Xg.20165044_20165045insGCA2819943730RPS6KA3c.1618_1619insC (p.Leu540SerfsTer4)
c.1531_1532insC (p.Leu511SerfsTer4)
c.1534_1535insC (p.Leu512SerfsTer4)
c.1236_1237insC (n.1236_1237insC)
c.*839_*840insC (n.*839_*840insC)
n.369-84_369-83insC
c.1615_1616insC (p.Leu539SerfsTer4)
c.1528_1529insC (p.Leu510SerfsTer4)
c.1636_1637insC (p.Leu546SerfsTer4)
c.1633_1634insC (p.Leu545SerfsTer4)
c.1552_1553insC (p.Leu518SerfsTer4)
c.1549_1550insC (p.Leu517SerfsTer4)
Xg.20165045A>CCA412514327RPS6KA3c.1618T>G (p.Leu540Val)
c.1531T>G (p.Leu511Val)
c.1534T>G (p.Leu512Val)
c.1236T>G (n.1236T>G)
c.*839T>G (n.*839T>G)
n.369-84T>G
c.1615T>G (p.Leu539Val)
c.1528T>G (p.Leu510Val)
c.1636T>G (p.Leu546Val)
c.1633T>G (p.Leu545Val)
c.1552T>G (p.Leu518Val)
c.1549T>G (p.Leu517Val)
Xg.20165045A>GCA515613852RPS6KA3c.1618T>C (p.Leu540=)
c.1531T>C (p.Leu511=)
c.1534T>C (p.Leu512=)
c.1236T>C (n.1236T>C)
c.*839T>C (n.*839T>C)
n.369-84T>C
c.1615T>C (p.Leu539=)
c.1528T>C (p.Leu510=)
c.1636T>C (p.Leu546=)
c.1633T>C (p.Leu545=)
c.1552T>C (p.Leu518=)
c.1549T>C (p.Leu517=)
 gnomAD v4
Xg.20165045A>TCA412514328RPS6KA3c.1618T>A (p.Leu540Met)
c.1531T>A (p.Leu511Met)
c.1534T>A (p.Leu512Met)
c.1236T>A (n.1236T>A)
c.*839T>A (n.*839T>A)
n.369-84T>A
c.1615T>A (p.Leu539Met)
c.1528T>A (p.Leu510Met)
c.1636T>A (p.Leu546Met)
c.1633T>A (p.Leu545Met)
c.1552T>A (p.Leu518Met)
c.1549T>A (p.Leu517Met)
Xg.20165046G>ACA515613855RPS6KA3c.1617C>T (p.Asp539=)
c.1530C>T (p.Asp510=)
c.1533C>T (p.Asp511=)
c.1235C>T (n.1235C>T)
c.*838C>T (n.*838C>T)
n.369-85C>T
c.1614C>T (p.Asp538=)
c.1527C>T (p.Asp509=)
c.1635C>T (p.Asp545=)
c.1632C>T (p.Asp544=)
c.1551C>T (p.Asp517=)
c.1548C>T (p.Asp516=)
Xg.20165046G>CCA412514329RPS6KA3c.1617C>G (p.Asp539Glu)
c.1530C>G (p.Asp510Glu)
c.1533C>G (p.Asp511Glu)
c.1235C>G (n.1235C>G)
c.*838C>G (n.*838C>G)
n.369-85C>G
c.1614C>G (p.Asp538Glu)
c.1527C>G (p.Asp509Glu)
c.1635C>G (p.Asp545Glu)
c.1632C>G (p.Asp544Glu)
c.1551C>G (p.Asp517Glu)
c.1548C>G (p.Asp516Glu)
Xg.20165046G>TCA412514330RPS6KA3c.1617C>A (p.Asp539Glu)
c.1530C>A (p.Asp510Glu)
c.1533C>A (p.Asp511Glu)
c.1235C>A (n.1235C>A)
c.*838C>A (n.*838C>A)
n.369-85C>A
c.1614C>A (p.Asp538Glu)
c.1527C>A (p.Asp509Glu)
c.1635C>A (p.Asp545Glu)
c.1632C>A (p.Asp544Glu)
c.1551C>A (p.Asp517Glu)
c.1548C>A (p.Asp516Glu)
 gnomAD v4
Xg.20165047T>ACA412514331RPS6KA3c.1616A>T (p.Asp539Val)
c.1529A>T (p.Asp510Val)
c.1532A>T (p.Asp511Val)
c.1234A>T (n.1234A>T)
c.*837A>T (n.*837A>T)
n.369-86A>T
c.1613A>T (p.Asp538Val)
c.1526A>T (p.Asp509Val)
c.1634A>T (p.Asp545Val)
c.1631A>T (p.Asp544Val)
c.1550A>T (p.Asp517Val)
c.1547A>T (p.Asp516Val)
Xg.20165047T>CCA412514332RPS6KA3c.1616A>G (p.Asp539Gly)
c.1529A>G (p.Asp510Gly)
c.1532A>G (p.Asp511Gly)
c.1234A>G (n.1234A>G)
c.*837A>G (n.*837A>G)
n.369-86A>G
c.1613A>G (p.Asp538Gly)
c.1526A>G (p.Asp509Gly)
c.1634A>G (p.Asp545Gly)
c.1631A>G (p.Asp544Gly)
c.1550A>G (p.Asp517Gly)
c.1547A>G (p.Asp516Gly)
Xg.20165047T>GCA412514333RPS6KA3c.1616A>C (p.Asp539Ala)
c.1529A>C (p.Asp510Ala)
c.1532A>C (p.Asp511Ala)
c.1234A>C (n.1234A>C)
c.*837A>C (n.*837A>C)
n.369-86A>C
c.1613A>C (p.Asp538Ala)
c.1526A>C (p.Asp509Ala)
c.1634A>C (p.Asp545Ala)
c.1631A>C (p.Asp544Ala)
c.1550A>C (p.Asp517Ala)
c.1547A>C (p.Asp516Ala)
Xg.20165048C>ACA412514334RPS6KA3c.1615G>T (p.Asp539Tyr)
c.1528G>T (p.Asp510Tyr)
c.1531G>T (p.Asp511Tyr)
c.1233G>T (n.1233G>T)
c.*836G>T (n.*836G>T)
n.369-87G>T
c.1612G>T (p.Asp538Tyr)
c.1525G>T (p.Asp509Tyr)
c.1633G>T (p.Asp545Tyr)
c.1630G>T (p.Asp544Tyr)
c.1549G>T (p.Asp517Tyr)
c.1546G>T (p.Asp516Tyr)
Xg.20165048C>GCA412514336RPS6KA3c.1615G>C (p.Asp539His)
c.1528G>C (p.Asp510His)
c.1531G>C (p.Asp511His)
c.1233G>C (n.1233G>C)
c.*836G>C (n.*836G>C)
n.369-87G>C
c.1612G>C (p.Asp538His)
c.1525G>C (p.Asp509His)
c.1633G>C (p.Asp545His)
c.1630G>C (p.Asp544His)
c.1549G>C (p.Asp517His)
c.1546G>C (p.Asp516His)
Xg.20165048C>TCA412514335RPS6KA3c.1615G>A (p.Asp539Asn)
c.1528G>A (p.Asp510Asn)
c.1531G>A (p.Asp511Asn)
c.1233G>A (n.1233G>A)
c.*836G>A (n.*836G>A)
n.369-87G>A
c.1612G>A (p.Asp538Asn)
c.1525G>A (p.Asp509Asn)
c.1633G>A (p.Asp545Asn)
c.1630G>A (p.Asp544Asn)
c.1549G>A (p.Asp517Asn)
c.1546G>A (p.Asp516Asn)
Xg.20165049T>ACA412514337RPS6KA3c.1614A>T (p.Arg538Ser)
c.1527A>T (p.Arg509Ser)
c.1530A>T (p.Arg510Ser)
c.1232A>T (n.1232A>T)
c.*835A>T (n.*835A>T)
n.369-88A>T
c.1611A>T (p.Arg537Ser)
c.1524A>T (p.Arg508Ser)
c.1632A>T (p.Arg544Ser)
c.1629A>T (p.Arg543Ser)
c.1548A>T (p.Arg516Ser)
c.1545A>T (p.Arg515Ser)
Xg.20165049T>CCA515613856RPS6KA3c.1614A>G (p.Arg538=)
c.1527A>G (p.Arg509=)
c.1530A>G (p.Arg510=)
c.1232A>G (n.1232A>G)
c.*835A>G (n.*835A>G)
n.369-88A>G
c.1611A>G (p.Arg537=)
c.1524A>G (p.Arg508=)
c.1632A>G (p.Arg544=)
c.1629A>G (p.Arg543=)
c.1548A>G (p.Arg516=)
c.1545A>G (p.Arg515=)
Xg.20165049T>GCA412514338RPS6KA3c.1614A>C (p.Arg538Ser)
c.1527A>C (p.Arg509Ser)
c.1530A>C (p.Arg510Ser)
c.1232A>C (n.1232A>C)
c.*835A>C (n.*835A>C)
n.369-88A>C
c.1611A>C (p.Arg537Ser)
c.1524A>C (p.Arg508Ser)
c.1632A>C (p.Arg544Ser)
c.1629A>C (p.Arg543Ser)
c.1548A>C (p.Arg516Ser)
c.1545A>C (p.Arg515Ser)
Xg.20165050C>ACA412514339RPS6KA3c.1613G>T (p.Arg538Ile)
c.1526G>T (p.Arg509Ile)
c.1529G>T (p.Arg510Ile)
c.1231G>T (n.1231G>T)
c.*834G>T (n.*834G>T)
n.369-89G>T
c.1610G>T (p.Arg537Ile)
c.1523G>T (p.Arg508Ile)
c.1631G>T (p.Arg544Ile)
c.1628G>T (p.Arg543Ile)
c.1547G>T (p.Arg516Ile)
c.1544G>T (p.Arg515Ile)
Xg.20165050C>GCA412514340RPS6KA3c.1613G>C (p.Arg538Thr)
c.1526G>C (p.Arg509Thr)
c.1529G>C (p.Arg510Thr)
c.1231G>C (n.1231G>C)
c.*834G>C (n.*834G>C)
n.369-89G>C
c.1610G>C (p.Arg537Thr)
c.1523G>C (p.Arg508Thr)
c.1631G>C (p.Arg544Thr)
c.1628G>C (p.Arg543Thr)
c.1547G>C (p.Arg516Thr)
c.1544G>C (p.Arg515Thr)
 COSMIC
Xg.20165050C>TCA412514341RPS6KA3c.1613G>A (p.Arg538Lys)
c.1526G>A (p.Arg509Lys)
c.1529G>A (p.Arg510Lys)
c.1231G>A (n.1231G>A)
c.*834G>A (n.*834G>A)
n.369-89G>A
c.1610G>A (p.Arg537Lys)
c.1523G>A (p.Arg508Lys)
c.1631G>A (p.Arg544Lys)
c.1628G>A (p.Arg543Lys)
c.1547G>A (p.Arg516Lys)
c.1544G>A (p.Arg515Lys)
Xg.20165050_20165051delinsCTCA2418505975RPS6KA3c.1612_1613delinsAG (p.Arg538=)
c.1525_1526delinsAG (p.Arg509=)
c.1528_1529delinsAG (p.Arg510=)
c.1230_1231delinsAG (n.1230_1231delinsAG)
c.*833_*834delinsAG (n.*833_*834delinsAG)
n.369-90_369-89delinsAG
c.1609_1610delinsAG (p.Arg537=)
c.1522_1523delinsAG (p.Arg508=)
c.1630_1631delinsAG (p.Arg544=)
c.1627_1628delinsAG (p.Arg543=)
c.1546_1547delinsAG (p.Arg516=)
c.1543_1544delinsAG (p.Arg515=)
Xg.20165051delCA1139667267RPS6KA3c.1612del (p.Arg538GlufsTer3)
c.1525del (p.Arg509GlufsTer3)
c.1528del (p.Arg510GlufsTer3)
c.1230del (n.1230del)
c.*833del (n.*833del)
n.369-90del
c.1609del (p.Arg537GlufsTer3)
c.1522del (p.Arg508GlufsTer3)
c.1630del (p.Arg544GlufsTer3)
c.1627del (p.Arg543GlufsTer3)
c.1546del (p.Arg516GlufsTer3)
c.1543del (p.Arg515GlufsTer3)
 ClinVar dbSNP
Xg.20165051T>ACA412514342RPS6KA3c.1612A>T (p.Arg538Ter)
c.1525A>T (p.Arg509Ter)
c.1528A>T (p.Arg510Ter)
c.1230A>T (n.1230A>T)
c.*833A>T (n.*833A>T)
n.369-90A>T
c.1609A>T (p.Arg537Ter)
c.1522A>T (p.Arg508Ter)
c.1630A>T (p.Arg544Ter)
c.1627A>T (p.Arg543Ter)
c.1546A>T (p.Arg516Ter)
c.1543A>T (p.Arg515Ter)
Xg.20165051T>CCA412514343RPS6KA3c.1612A>G (p.Arg538Gly)
c.1525A>G (p.Arg509Gly)
c.1528A>G (p.Arg510Gly)
c.1230A>G (n.1230A>G)
c.*833A>G (n.*833A>G)
n.369-90A>G
c.1609A>G (p.Arg537Gly)
c.1522A>G (p.Arg508Gly)
c.1630A>G (p.Arg544Gly)
c.1627A>G (p.Arg543Gly)
c.1546A>G (p.Arg516Gly)
c.1543A>G (p.Arg515Gly)
 gnomAD v4
Xg.20165051T>GCA515613857RPS6KA3c.1612A>C (p.Arg538=)
c.1525A>C (p.Arg509=)
c.1528A>C (p.Arg510=)
c.1230A>C (n.1230A>C)
c.*833A>C (n.*833A>C)
n.369-90A>C
c.1609A>C (p.Arg537=)
c.1522A>C (p.Arg508=)
c.1630A>C (p.Arg544=)
c.1627A>C (p.Arg543=)
c.1546A>C (p.Arg516=)
c.1543A>C (p.Arg515=)
Xg.20165052A=CA2418505976RPS6KA3c.1611T= (p.His537=)
c.1524T= (p.His508=)
c.1527T= (p.His509=)
c.1229T= (n.1229T=)
c.*832T= (n.*832T=)
n.369-91T=
c.1608T= (p.His536=)
c.1521T= (p.His507=)
c.1629T= (p.His543=)
c.1626T= (p.His542=)
c.1545T= (p.His515=)
c.1542T= (p.His514=)
Xg.20165052A>CCA412514344RPS6KA3c.1611T>G (p.His537Gln)
c.1524T>G (p.His508Gln)
c.1527T>G (p.His509Gln)
c.1229T>G (n.1229T>G)
c.*832T>G (n.*832T>G)
n.369-91T>G
c.1608T>G (p.His536Gln)
c.1521T>G (p.His507Gln)
c.1629T>G (p.His543Gln)
c.1626T>G (p.His542Gln)
c.1545T>G (p.His515Gln)
c.1542T>G (p.His514Gln)
Xg.20165052A>GCA10366082RPS6KA3c.1611T>C (p.His537=)
c.1524T>C (p.His508=)
c.1527T>C (p.His509=)
c.1229T>C (n.1229T>C)
c.*832T>C (n.*832T>C)
n.369-91T>C
c.1608T>C (p.His536=)
c.1521T>C (p.His507=)
c.1629T>C (p.His543=)
c.1626T>C (p.His542=)
c.1545T>C (p.His515=)
c.1542T>C (p.His514=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.20165052A>TCA412514345RPS6KA3c.1611T>A (p.His537Gln)
c.1524T>A (p.His508Gln)
c.1527T>A (p.His509Gln)
c.1229T>A (n.1229T>A)
c.*832T>A (n.*832T>A)
n.369-91T>A
c.1608T>A (p.His536Gln)
c.1521T>A (p.His507Gln)
c.1629T>A (p.His543Gln)
c.1626T>A (p.His542Gln)
c.1545T>A (p.His515Gln)
c.1542T>A (p.His514Gln)
Xg.20165053T>ACA412514346RPS6KA3c.1610A>T (p.His537Leu)
c.1523A>T (p.His508Leu)
c.1526A>T (p.His509Leu)
c.1228A>T (n.1228A>T)
c.*831A>T (n.*831A>T)
n.369-92A>T
c.1607A>T (p.His536Leu)
c.1520A>T (p.His507Leu)
c.1628A>T (p.His543Leu)
c.1625A>T (p.His542Leu)
c.1544A>T (p.His515Leu)
c.1541A>T (p.His514Leu)
Xg.20165053T>CCA412514348RPS6KA3c.1610A>G (p.His537Arg)
c.1523A>G (p.His508Arg)
c.1526A>G (p.His509Arg)
c.1228A>G (n.1228A>G)
c.*831A>G (n.*831A>G)
n.369-92A>G
c.1607A>G (p.His536Arg)
c.1520A>G (p.His507Arg)
c.1628A>G (p.His543Arg)
c.1625A>G (p.His542Arg)
c.1544A>G (p.His515Arg)
c.1541A>G (p.His514Arg)
Xg.20165053T>GCA412514347RPS6KA3c.1610A>C (p.His537Pro)
c.1523A>C (p.His508Pro)
c.1526A>C (p.His509Pro)
c.1228A>C (n.1228A>C)
c.*831A>C (n.*831A>C)
n.369-92A>C
c.1607A>C (p.His536Pro)
c.1520A>C (p.His507Pro)
c.1628A>C (p.His543Pro)
c.1625A>C (p.His542Pro)
c.1544A>C (p.His515Pro)
c.1541A>C (p.His514Pro)
Xg.20165054G>ACA412514349RPS6KA3c.1609C>T (p.His537Tyr)
c.1522C>T (p.His508Tyr)
c.1525C>T (p.His509Tyr)
c.1227C>T (n.1227C>T)
c.*830C>T (n.*830C>T)
n.369-93C>T
c.1606C>T (p.His536Tyr)
c.1519C>T (p.His507Tyr)
c.1627C>T (p.His543Tyr)
c.1624C>T (p.His542Tyr)
c.1543C>T (p.His515Tyr)
c.1540C>T (p.His514Tyr)
Xg.20165054G>CCA412514351RPS6KA3c.1609C>G (p.His537Asp)
c.1522C>G (p.His508Asp)
c.1525C>G (p.His509Asp)
c.1227C>G (n.1227C>G)
c.*830C>G (n.*830C>G)
n.369-93C>G
c.1606C>G (p.His536Asp)
c.1519C>G (p.His507Asp)
c.1627C>G (p.His543Asp)
c.1624C>G (p.His542Asp)
c.1543C>G (p.His515Asp)
c.1540C>G (p.His514Asp)
Xg.20165054G>TCA412514350RPS6KA3c.1609C>A (p.His537Asn)
c.1522C>A (p.His508Asn)
c.1525C>A (p.His509Asn)
c.1227C>A (n.1227C>A)
c.*830C>A (n.*830C>A)
n.369-93C>A
c.1606C>A (p.His536Asn)
c.1519C>A (p.His507Asn)
c.1627C>A (p.His543Asn)
c.1624C>A (p.His542Asn)
c.1543C>A (p.His515Asn)
c.1540C>A (p.His514Asn)
 gnomAD v4
Xg.20165055A>CCA515613859RPS6KA3c.1608T>G (p.Val536=)
c.1521T>G (p.Val507=)
c.1524T>G (p.Val508=)
c.1226T>G (n.1226T>G)
c.*829T>G (n.*829T>G)
n.369-94T>G
c.1605T>G (p.Val535=)
c.1518T>G (p.Val506=)
c.1626T>G (p.Val542=)
c.1623T>G (p.Val541=)
c.1542T>G (p.Val514=)
c.1539T>G (p.Val513=)
Xg.20165055A>GCA515613860RPS6KA3c.1608T>C (p.Val536=)
c.1521T>C (p.Val507=)
c.1524T>C (p.Val508=)
c.1226T>C (n.1226T>C)
c.*829T>C (n.*829T>C)
n.369-94T>C
c.1605T>C (p.Val535=)
c.1518T>C (p.Val506=)
c.1626T>C (p.Val542=)
c.1623T>C (p.Val541=)
c.1542T>C (p.Val514=)
c.1539T>C (p.Val513=)
Xg.20165055A>TCA515613861RPS6KA3c.1608T>A (p.Val536=)
c.1521T>A (p.Val507=)
c.1524T>A (p.Val508=)
c.1226T>A (n.1226T>A)
c.*829T>A (n.*829T>A)
n.369-94T>A
c.1605T>A (p.Val535=)
c.1518T>A (p.Val506=)
c.1626T>A (p.Val542=)
c.1623T>A (p.Val541=)
c.1542T>A (p.Val514=)
c.1539T>A (p.Val513=)
Xg.20165056A>CCA412514352RPS6KA3c.1607T>G (p.Val536Gly)
c.1520T>G (p.Val507Gly)
c.1523T>G (p.Val508Gly)
c.1225T>G (n.1225T>G)
c.*828T>G (n.*828T>G)
n.369-95T>G
c.1604T>G (p.Val535Gly)
c.1517T>G (p.Val506Gly)
c.1625T>G (p.Val542Gly)
c.1622T>G (p.Val541Gly)
c.1541T>G (p.Val514Gly)
c.1538T>G (p.Val513Gly)
Xg.20165056A>GCA412514354RPS6KA3c.1607T>C (p.Val536Ala)
c.1520T>C (p.Val507Ala)
c.1523T>C (p.Val508Ala)
c.1225T>C (n.1225T>C)
c.*828T>C (n.*828T>C)
n.369-95T>C
c.1604T>C (p.Val535Ala)
c.1517T>C (p.Val506Ala)
c.1625T>C (p.Val542Ala)
c.1622T>C (p.Val541Ala)
c.1541T>C (p.Val514Ala)
c.1538T>C (p.Val513Ala)
Xg.20165056A>TCA412514353RPS6KA3c.1607T>A (p.Val536Asp)
c.1520T>A (p.Val507Asp)
c.1523T>A (p.Val508Asp)
c.1225T>A (n.1225T>A)
c.*828T>A (n.*828T>A)
n.369-95T>A
c.1604T>A (p.Val535Asp)
c.1517T>A (p.Val506Asp)
c.1625T>A (p.Val542Asp)
c.1622T>A (p.Val541Asp)
c.1541T>A (p.Val514Asp)
c.1538T>A (p.Val513Asp)
Xg.20165057C>ACA16609163RPS6KA3c.1606G>T (p.Val536Phe)
c.1519G>T (p.Val507Phe)
c.1522G>T (p.Val508Phe)
c.1224G>T (n.1224G>T)
c.*827G>T (n.*827G>T)
n.369-96G>T
c.1603G>T (p.Val535Phe)
c.1516G>T (p.Val506Phe)
c.1624G>T (p.Val542Phe)
c.1621G>T (p.Val541Phe)
c.1540G>T (p.Val514Phe)
c.1537G>T (p.Val513Phe)
 ClinVar dbSNP
Xg.20165057C=CA2418505977RPS6KA3c.1606G= (p.Val536=)
c.1519G= (p.Val507=)
c.1522G= (p.Val508=)
c.1224G= (n.1224G=)
c.*827G= (n.*827G=)
n.369-96G=
c.1603G= (p.Val535=)
c.1516G= (p.Val506=)
c.1624G= (p.Val542=)
c.1621G= (p.Val541=)
c.1540G= (p.Val514=)
c.1537G= (p.Val513=)
Xg.20165057C>GCA412514356RPS6KA3c.1606G>C (p.Val536Leu)
c.1519G>C (p.Val507Leu)
c.1522G>C (p.Val508Leu)
c.1224G>C (n.1224G>C)
c.*827G>C (n.*827G>C)
n.369-96G>C
c.1603G>C (p.Val535Leu)
c.1516G>C (p.Val506Leu)
c.1624G>C (p.Val542Leu)
c.1621G>C (p.Val541Leu)
c.1540G>C (p.Val514Leu)
c.1537G>C (p.Val513Leu)
Xg.20165057C>TCA412514355RPS6KA3c.1606G>A (p.Val536Ile)
c.1519G>A (p.Val507Ile)
c.1522G>A (p.Val508Ile)
c.1224G>A (n.1224G>A)
c.*827G>A (n.*827G>A)
n.369-96G>A
c.1603G>A (p.Val535Ile)
c.1516G>A (p.Val506Ile)
c.1624G>A (p.Val542Ile)
c.1621G>A (p.Val541Ile)
c.1540G>A (p.Val514Ile)
c.1537G>A (p.Val513Ile)
Xg.20165058delCA2695200162RPS6KA3c.1606del (p.Val536PhefsTer5)
c.1519del (p.Val507PhefsTer5)
c.1522del (p.Val508PhefsTer5)
c.1224del (n.1224del)
c.*827del (n.*827del)
n.369-96del
c.1603del (p.Val535PhefsTer5)
c.1516del (p.Val506PhefsTer5)
c.1624del (p.Val542PhefsTer5)
c.1621del (p.Val541PhefsTer5)
c.1540del (p.Val514PhefsTer5)
c.1537del (p.Val513PhefsTer5)
 ClinVar

Number of alleles fetched