网站首页
KCNQ2
KCNQ2 FAQ
KCNQ2基因ABCs
KCNQ2基因序列
KCNQ2分子模型
KCNQ2功能示意
预后评估
KCNQ2突变预后评估
PolyPhen-2测序教程
SIFT测序教程
数据库
访问基因突变数据库
资料文献
查找资料文献
关于我们
关于我们
联系方式
最新活动
爱心捐赠
信息公开
当前位置:
数据库首页
>> KCNQ2基因突变数据库
KCNQ2基因突变数据库最新数据 来源:KCNQ2病友社
c.1051C>G-p.Leu351Val
c.1051C>T-p.Leu351Phe
c.1053C>T-p.Leu351Leu
c.1054T>C-p.Ser352Pro
c.1057C>G-p.Arg353Gly
c.1058G>A-p.Arg353His
c.1066C>G-p.Leu356Val
c.1073C>T-p.Ser358Phe
c.1076C>A-p.Thr359Lys
c.1085A>G-p.Tyr362Cys
c.1118+1G>A-p.Ser373?
c.1118+3A>G-p.Ser373?
c.1119-? (*382)del-p.?
c.1126delA-p.Thr376LeufsTer12
c.1148+2T>G-p.Arg383?
c.1192 1193delAA-p.Lys398GlufsTer1
c.1195 1196delAG-p.Ser399Ter
c.1203T>C-p.Ser401Ser
c.1217+2T>G-p.Arg406?
c.1229?-p.Pro410fsTer12
c.1247+1G>A-p.Ser416?
c.1246A>C-p.Ser416ArgfsTer57
c.1259C>T-p.Pro420Leu
c.1302-1G>C-p.Ser434?
c.1342C>T-p.Arg448Ter
c.1382A>C-p.Gln461Pro
c.1418 1419delTC-p.Leu473ArgfsTer4
c.1479-768 c.1940+579del3018bp-p.?
c.1481?-p.Gln494fs
c.1501G>C-p.Ala501Pro
c.1525+1G>A-p.Glu509?
c.1545G>C-p.Glu515Asp
c.1569 1581delCCCCTGCGAGTTT
c.1602G>A-p.Pro534Pro
c.1609A>T-p.Lys537Ter
c.1621A>G-p.Arg541Gly
c.1631+1G>A-p.Cys544?
c.1632-1G>T-p.Cys544?
c.1636A>G-p.Met546Val
c.1639C>T-p.Arg547Trp
c.1655A>C-p.Lys552Thr
c.1657C>T-p.Arg553Trp
c.1658G>A-p.Arg553Gln
c.1658G>T-p.Arg553Leu
c.1662G>C/T-p.Lys554Asn
c.1666A>G-p.Lys556Glu
c.1678C>T-p.Arg560Trp
c.1682C>T-p.Pro561Leu
c.1684 1685dupGCCCT-p.Tyr562CysfsT
c.1687G>A-p.Asp563Asn
c.1689C>G-p.Asp563Glu
c.1689C>T-p.Asp563Asp
c.1732A>G-p.Met578Val
c.1734G>C-p.Met578Ile
c.[1734G>A:1735G>A]
c.1741C>G-p.Arg581Gly
c.1741C>T-p.Arg581Ter
c.1764-? (*455 ?)del
c.1764A>T-p.Arg588Ser
c.1764-2A>G-p.Arg588?
c.1764-6C>A-p.Arg588fsTer1
c.1776C>G-p.Ile592Met
c.1783C>T-p.Arg595Trp
c.1856 1886del31bp
c.1887+5G>A-p.Gln629?
c.1910T>G-p.Leu637Arg
c.1930delT-p.Tyr644ThrfsTer285
c.1956G>A-p.Pro652Pro
c.1956delG-p.Thr653GlnfsTer276
c.2015delG-p.Ser672ThrfsTer257
c.2127delT-p.Pro710SerfsTer219
c.2318 2319dupG-p.Cys774LeufsTer90
c.2597delG-p.Cys866AlafsTer63
c.2599 2603dupTGGGC
c.2606 2610dupGGGCC
c.2613G>T-p.Arg871Ser
CHINA-c.431G>A
CHINA-c.553G>A
CHINA-c.584C>G
CHINA-c.587C>T
CHINA-c.593G>A
CHINA-c.629G>A
CHINA-c.637C>T
CHINA-c.643G>A
CHINA-c.673G>A
CHINA-c.674T>A
CHINA-c.712A>C
CHINA-c.740C>T
CHINA-c.794C>T
CHINA-c.821C>T
CHINA-c.829A>G
CHINA-c.836G>A
CHINA-c.853C>T
CHINA-c.868G>A
CHINA-c.901G>A
CHINA-c.920T>C
CHINA-c.997C>T
CHINA-c.1164A>T
CHINA-c.1545G>C
CHINA-c.1637T>C
上一页
1
2
3
下一页