Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.25809096G>A | CA253166 | SELENON | c.647G>A (p.Gly216Glu) c.716G>A (p.Gly239Glu) c.818G>A (p.Gly273Glu) | ClinVar dbSNP |
1 | g.25809096G>C | CA339113894 | SELENON | c.647G>C (p.Gly216Ala) c.716G>C (p.Gly239Ala) c.818G>C (p.Gly273Ala) | |
1 | g.25809096G= | CA1141580680 | SELENON | c.647G= (p.Gly216=) c.716G= (p.Gly239=) c.818G= (p.Gly273=) | |
1 | g.25809096G>T | CA339113895 | SELENON | c.647G>T (p.Gly216Val) c.716G>T (p.Gly239Val) c.818G>T (p.Gly273Val) | |
1 | g.25809097A>C | CA416759084 | SELENON | c.648A>C (p.Gly216=) c.717A>C (p.Gly239=) c.819A>C (p.Gly273=) | |
1 | g.25809097A>G | CA416759086 | SELENON | c.648A>G (p.Gly216=) c.717A>G (p.Gly239=) c.819A>G (p.Gly273=) | gnomAD v4 |
1 | g.25809097A>T | CA416759085 | SELENON | c.648A>T (p.Gly216=) c.717A>T (p.Gly239=) c.819A>T (p.Gly273=) | |
1 | g.25809098G>A | CA339113896 | SELENON | c.649G>A (p.Ala217Thr) c.718G>A (p.Ala240Thr) c.820G>A (p.Ala274Thr) | |
1 | g.25809098G>C | CA696649 | SELENON | c.649G>C (p.Ala217Pro) c.718G>C (p.Ala240Pro) c.820G>C (p.Ala274Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.25809098G= | CA1159806151 | SELENON | c.649G= (p.Ala217=) c.718G= (p.Ala240=) c.820G= (p.Ala274=) | |
1 | g.25809098G>T | CA339113900 | SELENON | c.649G>T (p.Ala217Ser) c.718G>T (p.Ala240Ser) c.820G>T (p.Ala274Ser) | |
1 | g.25809099C>A | CA339113923 | SELENON | c.650C>A (p.Ala217Asp) c.719C>A (p.Ala240Asp) c.821C>A (p.Ala274Asp) | gnomAD v4 |
1 | g.25809099C= | CA1159806152 | SELENON | c.650C= (p.Ala217=) c.719C= (p.Ala240=) c.821C= (p.Ala274=) | |
1 | g.25809099C>G | CA19698400 | SELENON | c.650C>G (p.Ala217Gly) c.719C>G (p.Ala240Gly) c.821C>G (p.Ala274Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809099C>T | CA339113903 | SELENON | c.650C>T (p.Ala217Val) c.719C>T (p.Ala240Val) c.821C>T (p.Ala274Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.25809100T>A | CA416759087 | SELENON | c.651T>A (p.Ala217=) c.720T>A (p.Ala240=) c.822T>A (p.Ala274=) | |
1 | g.25809100T>C | CA696650 | SELENON | c.651T>C (p.Ala217=) c.720T>C (p.Ala240=) c.822T>C (p.Ala274=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809100T>G | CA416759088 | SELENON | c.651T>G (p.Ala217=) c.720T>G (p.Ala240=) c.822T>G (p.Ala274=) | |
1 | g.25809100T= | CA1145036176 | SELENON | c.651T= (p.Ala217=) c.720T= (p.Ala240=) c.822T= (p.Ala274=) | |
1 | g.25809101G>A | CA339113933 | SELENON | c.652G>A (p.Val218Met) c.721G>A (p.Val241Met) c.823G>A (p.Val275Met) | |
1 | g.25809101G>C | CA339113932 | SELENON | c.652G>C (p.Val218Leu) c.721G>C (p.Val241Leu) c.823G>C (p.Val275Leu) | |
1 | g.25809101G>T | CA339113935 | SELENON | c.652G>T (p.Val218Leu) c.721G>T (p.Val241Leu) c.823G>T (p.Val275Leu) | |
1 | g.25809102T>A | CA339113938 | SELENON | c.653T>A (p.Val218Glu) c.722T>A (p.Val241Glu) c.824T>A (p.Val275Glu) | |
1 | g.25809102T>C | CA339113941 | SELENON | c.653T>C (p.Val218Ala) c.722T>C (p.Val241Ala) c.824T>C (p.Val275Ala) | |
1 | g.25809102T>G | CA339113944 | SELENON | c.653T>G (p.Val218Gly) c.722T>G (p.Val241Gly) c.824T>G (p.Val275Gly) | |
1 | g.25809103G>A | CA416759089 | SELENON | c.654G>A (p.Val218=) c.723G>A (p.Val241=) c.825G>A (p.Val275=) | |
1 | g.25809103G>C | CA416759090 | SELENON | c.654G>C (p.Val218=) c.723G>C (p.Val241=) c.825G>C (p.Val275=) | |
1 | g.25809103G>T | CA416759091 | SELENON | c.654G>T (p.Val218=) c.723G>T (p.Val241=) c.825G>T (p.Val275=) | |
1 | g.25809104G>A | CA339113947 | SELENON | c.655G>A (p.Ala219Thr) c.724G>A (p.Ala242Thr) c.826G>A (p.Ala276Thr) | |
1 | g.25809104G>C | CA339113949 | SELENON | c.655G>C (p.Ala219Pro) c.724G>C (p.Ala242Pro) c.826G>C (p.Ala276Pro) | |
1 | g.25809104G= | CA1159806153 | SELENON | c.655G= (p.Ala219=) c.724G= (p.Ala242=) c.826G= (p.Ala276=) | |
1 | g.25809104G>T | CA339113951 | SELENON | c.655G>T (p.Ala219Ser) c.724G>T (p.Ala242Ser) c.826G>T (p.Ala276Ser) | gnomAD v4 |
1 | g.25809105C>A | CA339113958 | SELENON | c.656C>A (p.Ala219Asp) c.725C>A (p.Ala242Asp) c.827C>A (p.Ala276Asp) | |
1 | g.25809105C= | CA1159806154 | SELENON | c.656C= (p.Ala219=) c.725C= (p.Ala242=) c.827C= (p.Ala276=) | |
1 | g.25809105C>G | CA339113960 | SELENON | c.656C>G (p.Ala219Gly) c.725C>G (p.Ala242Gly) c.827C>G (p.Ala276Gly) | gnomAD v4 |
1 | g.25809105C>T | CA19698405 | SELENON | c.656C>T (p.Ala219Val) c.725C>T (p.Ala242Val) c.827C>T (p.Ala276Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809105_25809107dup | CA276995 | SELENON | c.656_658dup (p.Ala219_Cys220insSer) c.725_727dup (p.Ala242_Cys243insSer) c.827_829dup (p.Ala276_Cys277insSer) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809106C>A | CA416759092 | SELENON | c.657C>A (p.Ala219=) c.726C>A (p.Ala242=) c.828C>A (p.Ala276=) | |
1 | g.25809106C= | CA1159806155 | SELENON | c.657C= (p.Ala219=) c.726C= (p.Ala242=) c.828C= (p.Ala276=) | |
1 | g.25809106C>G | CA416759093 | SELENON | c.657C>G (p.Ala219=) c.726C>G (p.Ala242=) c.828C>G (p.Ala276=) | |
1 | g.25809106C>T | CA416759094 | SELENON | c.657C>T (p.Ala219=) c.726C>T (p.Ala242=) c.828C>T (p.Ala276=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.25809107T>A | CA339113965 | SELENON | c.658T>A (p.Cys220Ser) c.727T>A (p.Cys243Ser) c.829T>A (p.Cys277Ser) | |
1 | g.25809107T>C | CA339113968 | SELENON | c.658T>C (p.Cys220Arg) c.727T>C (p.Cys243Arg) c.829T>C (p.Cys277Arg) | |
1 | g.25809107T>G | CA19698407 | SELENON | c.658T>G (p.Cys220Gly) c.727T>G (p.Cys243Gly) c.829T>G (p.Cys277Gly) | dbSNP gnomAD v4 |
1 | g.25809107T= | CA1159806156 | SELENON | c.658T= (p.Cys220=) c.727T= (p.Cys243=) c.829T= (p.Cys277=) | |
1 | g.25809108G>A | CA339113974 | SELENON | c.659G>A (p.Cys220Tyr) c.728G>A (p.Cys243Tyr) c.830G>A (p.Cys277Tyr) | gnomAD v4 |
1 | g.25809108G>C | CA339113984 | SELENON | c.659G>C (p.Cys220Ser) c.728G>C (p.Cys243Ser) c.830G>C (p.Cys277Ser) | |
1 | g.25809108G>T | CA339113976 | SELENON | c.659G>T (p.Cys220Phe) c.728G>T (p.Cys243Phe) c.830G>T (p.Cys277Phe) | |
1 | g.25809109C>A | CA339113987 | SELENON | c.660C>A (p.Cys220Ter) c.729C>A (p.Cys243Ter) c.831C>A (p.Cys277Ter) | |
1 | g.25809109C>G | CA339113995 | SELENON | c.660C>G (p.Cys220Trp) c.729C>G (p.Cys243Trp) c.831C>G (p.Cys277Trp) |