Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.127420173_127420174delinsGA | CA1580843179 | MEGF10 | c.1556_1557delinsGA (p.Gly519=) c.1721_1722delinsGA (p.Gly574=) c.416_417delinsGA (p.Gly139=) | |
5 | g.127420174del | CA16043660 | MEGF10 | c.1557del (p.Trp520GlyfsTer17) c.1722del (p.Trp575GlyfsTer17) c.417del (p.Trp140GlyfsTer17) | ClinVar dbSNP |
5 | g.127420174A>C | CA446285957 | MEGF10 | c.1557A>C (p.Gly519=) c.1722A>C (p.Gly574=) c.417A>C (p.Gly139=) | gnomAD v4 |
5 | g.127420174A>G | CA446285958 | MEGF10 | c.1557A>G (p.Gly519=) c.1722A>G (p.Gly574=) c.417A>G (p.Gly139=) | |
5 | g.127420174A>T | CA446285955 | MEGF10 | c.1557A>T (p.Gly519=) c.1722A>T (p.Gly574=) c.417A>T (p.Gly139=) | |
5 | g.127420175T>A | CA3391609 | MEGF10 | c.1558T>A (p.Trp520Arg) c.1723T>A (p.Trp575Arg) c.418T>A (p.Trp140Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420175T>C | CA360730188 | MEGF10 | c.1558T>C (p.Trp520Arg) c.1723T>C (p.Trp575Arg) c.418T>C (p.Trp140Arg) | |
5 | g.127420175T>G | CA360730186 | MEGF10 | c.1558T>G (p.Trp520Gly) c.1723T>G (p.Trp575Gly) c.418T>G (p.Trp140Gly) | |
5 | g.127420175T= | CA1580843188 | MEGF10 | c.1558T= (p.Trp520=) c.1723T= (p.Trp575=) c.418T= (p.Trp140=) | |
5 | g.127420176G>A | CA129565 | MEGF10 | c.1559G>A (p.Trp520Ter) c.1724G>A (p.Trp575Ter) c.419G>A (p.Trp140Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420176G>C | CA360730192 | MEGF10 | c.1559G>C (p.Trp520Ser) c.1724G>C (p.Trp575Ser) c.419G>C (p.Trp140Ser) | |
5 | g.127420176G= | CA1580843196 | MEGF10 | c.1559G= (p.Trp520=) c.1724G= (p.Trp575=) c.419G= (p.Trp140=) | |
5 | g.127420176G>T | CA360730193 | MEGF10 | c.1559G>T (p.Trp520Leu) c.1724G>T (p.Trp575Leu) c.419G>T (p.Trp140Leu) | |
5 | g.127420177G>A | CA360730196 | MEGF10 | c.1560G>A (p.Trp520Ter) c.1725G>A (p.Trp575Ter) c.420G>A (p.Trp140Ter) | |
5 | g.127420177G>C | CA360730197 | MEGF10 | c.1560G>C (p.Trp520Cys) c.1725G>C (p.Trp575Cys) c.420G>C (p.Trp140Cys) | |
5 | g.127420177G>T | CA360730198 | MEGF10 | c.1560G>T (p.Trp520Cys) c.1725G>T (p.Trp575Cys) c.420G>T (p.Trp140Cys) | |
5 | g.127420178C>A | CA360730201 | MEGF10 | c.1561C>A (p.Arg521Ser) c.1726C>A (p.Arg576Ser) c.421C>A (p.Arg141Ser) | |
5 | g.127420178C= | CA1580843201 | MEGF10 | c.1561C= (p.Arg521=) c.1726C= (p.Arg576=) c.421C= (p.Arg141=) | |
5 | g.127420178C>G | CA360730203 | MEGF10 | c.1561C>G (p.Arg521Gly) c.1726C>G (p.Arg576Gly) c.421C>G (p.Arg141Gly) | dbSNP |
5 | g.127420178C>T | CA360730204 | MEGF10 | c.1561C>T (p.Arg521Cys) c.1726C>T (p.Arg576Cys) c.421C>T (p.Arg141Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.127420179G>A | CA3391610 | MEGF10 | c.1562G>A (p.Arg521His) c.1727G>A (p.Arg576His) c.422G>A (p.Arg141His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420179G>C | CA360730208 | MEGF10 | c.1562G>C (p.Arg521Pro) c.1727G>C (p.Arg576Pro) c.422G>C (p.Arg141Pro) | ClinVar dbSNP |
5 | g.127420179G= | CA1580843207 | MEGF10 | c.1562G= (p.Arg521=) c.1727G= (p.Arg576=) c.422G= (p.Arg141=) | |
5 | g.127420179G>T | CA360730210 | MEGF10 | c.1562G>T (p.Arg521Leu) c.1727G>T (p.Arg576Leu) c.422G>T (p.Arg141Leu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420180C>A | CA446285970 | MEGF10 | c.1563C>A (p.Arg521=) c.1728C>A (p.Arg576=) c.423C>A (p.Arg141=) | |
5 | g.127420180C= | CA1580843213 | MEGF10 | c.1563C= (p.Arg521=) c.1728C= (p.Arg576=) c.423C= (p.Arg141=) | |
5 | g.127420180C>G | CA126949374 | MEGF10 | c.1563C>G (p.Arg521=) c.1728C>G (p.Arg576=) c.423C>G (p.Arg141=) | dbSNP |
5 | g.127420180C>T | CA3391611 | MEGF10 | c.1563C>T (p.Arg521=) c.1728C>T (p.Arg576=) c.423C>T (p.Arg141=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420181G>A | CA3391612 | MEGF10 | c.1564G>A (p.Gly522Arg) c.1729G>A (p.Gly577Arg) c.424G>A (p.Gly142Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420181G>C | CA3391613 | MEGF10 | c.1564G>C (p.Gly522Arg) c.1729G>C (p.Gly577Arg) c.424G>C (p.Gly142Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420181G= | CA1580843221 | MEGF10 | c.1564G= (p.Gly522=) c.1729G= (p.Gly577=) c.424G= (p.Gly142=) | |
5 | g.127420181G>T | CA3391614 | MEGF10 | c.1564G>T (p.Gly522Trp) c.1729G>T (p.Gly577Trp) c.424G>T (p.Gly142Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420182G>A | CA360730218 | MEGF10 | c.1565G>A (p.Gly522Glu) c.1730G>A (p.Gly577Glu) c.425G>A (p.Gly142Glu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420182G>C | CA3391615 | MEGF10 | c.1565G>C (p.Gly522Ala) c.1730G>C (p.Gly577Ala) c.425G>C (p.Gly142Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420182G= | CA1580843225 | MEGF10 | c.1565G= (p.Gly522=) c.1730G= (p.Gly577=) c.425G= (p.Gly142=) | |
5 | g.127420182G>T | CA360730221 | MEGF10 | c.1565G>T (p.Gly522Val) c.1730G>T (p.Gly577Val) c.425G>T (p.Gly142Val) | |
5 | g.127420183G>A | CA446285978 | MEGF10 | c.1566G>A (p.Gly522=) c.1731G>A (p.Gly577=) c.426G>A (p.Gly142=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420183G>C | CA446285980 | MEGF10 | c.1566G>C (p.Gly522=) c.1731G>C (p.Gly577=) c.426G>C (p.Gly142=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420183G= | CA1580843228 | MEGF10 | c.1566G= (p.Gly522=) c.1731G= (p.Gly577=) c.426G= (p.Gly142=) | |
5 | g.127420183G>T | CA446285982 | MEGF10 | c.1566G>T (p.Gly522=) c.1731G>T (p.Gly577=) c.426G>T (p.Gly142=) | gnomAD v4 |
5 | g.127420184G>A | CA360730224 | MEGF10 | c.1567G>A (p.Glu523Lys) c.1732G>A (p.Glu578Lys) c.427G>A (p.Glu143Lys) | COSMIC |
5 | g.127420184G>C | CA360730225 | MEGF10 | c.1567G>C (p.Glu523Gln) c.1732G>C (p.Glu578Gln) c.427G>C (p.Glu143Gln) | dbSNP |
5 | g.127420184G= | CA1580843230 | MEGF10 | c.1567G= (p.Glu523=) c.1732G= (p.Glu578=) c.427G= (p.Glu143=) | |
5 | g.127420184G>T | CA360730226 | MEGF10 | c.1567G>T (p.Glu523Ter) c.1732G>T (p.Glu578Ter) c.427G>T (p.Glu143Ter) | |
5 | g.127420185A>C | CA360730229 | MEGF10 | c.1568A>C (p.Glu523Ala) c.1733A>C (p.Glu578Ala) c.428A>C (p.Glu143Ala) | |
5 | g.127420185A>G | CA360730230 | MEGF10 | c.1568A>G (p.Glu523Gly) c.1733A>G (p.Glu578Gly) c.428A>G (p.Glu143Gly) | |
5 | g.127420185A>T | CA360730231 | MEGF10 | c.1568A>T (p.Glu523Val) c.1733A>T (p.Glu578Val) c.428A>T (p.Glu143Val) | |
5 | g.127420186G>A | CA446285986 | MEGF10 | c.1569G>A (p.Glu523=) c.1734G>A (p.Glu578=) c.429G>A (p.Glu143=) | |
5 | g.127420186G>C | CA360730235 | MEGF10 | c.1569G>C (p.Glu523Asp) c.1734G>C (p.Glu578Asp) c.429G>C (p.Glu143Asp) | |
5 | g.127420186G>T | CA360730233 | MEGF10 | c.1569G>T (p.Glu523Asp) c.1734G>T (p.Glu578Asp) c.429G>T (p.Glu143Asp) |