| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.98577934C>A | CA374349954 | GABBR2 | c.459+1G>T (n.459+1G>T) n.237+1G>T c.75+1G>T (n.75+1G>T) n.233+1G>T | |
| 9 | g.98577934C>G | CA374349955 | GABBR2 | c.459+1G>C (n.459+1G>C) n.237+1G>C c.75+1G>C (n.75+1G>C) n.233+1G>C | |
| 9 | g.98577934C>T | CA374349953 | GABBR2 | c.459+1G>A (n.459+1G>A) n.237+1G>A c.75+1G>A (n.75+1G>A) n.233+1G>A | |
| 9 | g.98577935C>A | CA374349957 | GABBR2 | c.459G>T (p.Gln153His) n.237G>T c.75G>T (p.Gln25His) n.233G>T | |
| 9 | g.98577935C>G | CA374349956 | GABBR2 | c.459G>C (p.Gln153His) n.237G>C c.75G>C (p.Gln25His) n.233G>C | |
| 9 | g.98577935C>T | CA466527206 | GABBR2 | c.459G>A (p.Gln153=) n.237G>A c.75G>A (p.Gln25=) n.233G>A | |
| 9 | g.98577936T>A | CA374349960 | GABBR2 | c.458A>T (p.Gln153Leu) n.236A>T c.74A>T (p.Gln25Leu) n.232A>T | |
| 9 | g.98577936T>C | CA374349958 | GABBR2 | c.458A>G (p.Gln153Arg) n.236A>G c.74A>G (p.Gln25Arg) n.232A>G | gnomAD v4 COSMIC |
| 9 | g.98577936T>G | CA374349959 | GABBR2 | c.458A>C (p.Gln153Pro) n.236A>C c.74A>C (p.Gln25Pro) n.232A>C | |
| 9 | g.98577937G>A | CA374349961 | GABBR2 | c.457C>T (p.Gln153Ter) n.235C>T c.73C>T (p.Gln25Ter) n.231C>T | |
| 9 | g.98577937G>C | CA374349962 | GABBR2 | c.457C>G (p.Gln153Glu) n.235C>G c.73C>G (p.Gln25Glu) n.231C>G | |
| 9 | g.98577937G>T | CA374349963 | GABBR2 | c.457C>A (p.Gln153Lys) n.235C>A c.73C>A (p.Gln25Lys) n.231C>A | |
| 9 | g.98577938C>A | CA5152995 | GABBR2 | c.456G>T (p.Val152=) n.234G>T c.72G>T (p.Val24=) n.230G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.98577938C= | CA1867025089 | GABBR2 | c.456G= (p.Val152=) n.234G= c.72G= (p.Val24=) n.230G= | |
| 9 | g.98577938C>G | CA466527207 | GABBR2 | c.456G>C (p.Val152=) n.234G>C c.72G>C (p.Val24=) n.230G>C | |
| 9 | g.98577938C>T | CA5152994 | GABBR2 | c.456G>A (p.Val152=) n.234G>A c.72G>A (p.Val24=) n.230G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.98577939A>C | CA374349964 | GABBR2 | c.455T>G (p.Val152Gly) n.233T>G c.71T>G (p.Val24Gly) n.229T>G | |
| 9 | g.98577939A>G | CA374349965 | GABBR2 | c.455T>C (p.Val152Ala) n.233T>C c.71T>C (p.Val24Ala) n.229T>C | |
| 9 | g.98577939A>T | CA374349966 | GABBR2 | c.455T>A (p.Val152Glu) n.233T>A c.71T>A (p.Val24Glu) n.229T>A | |
| 9 | g.98577940C>A | CA374349967 | GABBR2 | c.454G>T (p.Val152Leu) n.232G>T c.70G>T (p.Val24Leu) n.228G>T | |
| 9 | g.98577940C>G | CA374349968 | GABBR2 | c.454G>C (p.Val152Leu) n.232G>C c.70G>C (p.Val24Leu) n.228G>C | ClinVar gnomAD v4 |
| 9 | g.98577940C>T | CA374349969 | GABBR2 | c.454G>A (p.Val152Met) n.232G>A c.70G>A (p.Val24Met) n.228G>A | gnomAD v4 |
| 9 | g.98577941C>A | CA466527208 | GABBR2 | c.453G>T (p.Leu151=) n.231G>T c.69G>T (p.Leu23=) n.227G>T | |
| 9 | g.98577941C= | CA1867025090 | GABBR2 | c.453G= (p.Leu151=) n.231G= c.69G= (p.Leu23=) n.227G= | |
| 9 | g.98577941C>G | CA466527209 | GABBR2 | c.453G>C (p.Leu151=) n.231G>C c.69G>C (p.Leu23=) n.227G>C | |
| 9 | g.98577941C>T | CA5152996 | GABBR2 | c.453G>A (p.Leu151=) n.231G>A c.69G>A (p.Leu23=) n.227G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.98577942A>C | CA374349970 | GABBR2 | c.452T>G (p.Leu151Arg) n.230T>G c.68T>G (p.Leu23Arg) n.226T>G | |
| 9 | g.98577942A>G | CA374349971 | GABBR2 | c.452T>C (p.Leu151Pro) n.230T>C c.68T>C (p.Leu23Pro) n.226T>C | |
| 9 | g.98577942A>T | CA374349972 | GABBR2 | c.452T>A (p.Leu151Gln) n.230T>A c.68T>A (p.Leu23Gln) n.226T>A | |
| 9 | g.98577943G>A | CA466527210 | GABBR2 | c.451C>T (p.Leu151=) n.229C>T c.67C>T (p.Leu23=) n.225C>T | |
| 9 | g.98577943G>C | CA374349973 | GABBR2 | c.451C>G (p.Leu151Val) n.229C>G c.67C>G (p.Leu23Val) n.225C>G | |
| 9 | g.98577943G>T | CA374349974 | GABBR2 | c.451C>A (p.Leu151Met) n.229C>A c.67C>A (p.Leu23Met) n.225C>A | |
| 9 | g.98577944A= | CA1867025091 | GABBR2 | c.450T= (p.Asn150=) n.228T= c.66T= (p.Asn22=) n.224T= | |
| 9 | g.98577944A>C | CA374349975 | GABBR2 | c.450T>G (p.Asn150Lys) n.228T>G c.66T>G (p.Asn22Lys) n.224T>G | |
| 9 | g.98577944A>G | CA466527211 | GABBR2 | c.450T>C (p.Asn150=) n.228T>C c.66T>C (p.Asn22=) n.224T>C | dbSNP gnomAD v2 |
| 9 | g.98577944A>T | CA374349976 | GABBR2 | c.450T>A (p.Asn150Lys) n.228T>A c.66T>A (p.Asn22Lys) n.224T>A | |
| 9 | g.98577945T>A | CA374349977 | GABBR2 | c.449A>T (p.Asn150Ile) n.227A>T c.65A>T (p.Asn22Ile) n.223A>T | |
| 9 | g.98577945T>C | CA374349978 | GABBR2 | c.449A>G (p.Asn150Ser) n.227A>G c.65A>G (p.Asn22Ser) n.223A>G | |
| 9 | g.98577945T>G | CA374349979 | GABBR2 | c.449A>C (p.Asn150Thr) n.227A>C c.65A>C (p.Asn22Thr) n.223A>C | |
| 9 | g.98577946T>A | CA374349980 | GABBR2 | c.448A>T (p.Asn150Tyr) n.226A>T c.64A>T (p.Asn22Tyr) n.222A>T | |
| 9 | g.98577946T>C | CA197080737 | GABBR2 | c.448A>G (p.Asn150Asp) n.226A>G c.64A>G (p.Asn22Asp) n.222A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.98577946T>G | CA374349981 | GABBR2 | c.448A>C (p.Asn150His) n.226A>C c.64A>C (p.Asn22His) n.222A>C | |
| 9 | g.98577946T= | CA1867025092 | GABBR2 | c.448A= (p.Asn150=) n.226A= c.64A= (p.Asn22=) n.222A= | |
| 9 | g.98577947C>A | CA374349984 | GABBR2 | c.447G>T (p.Trp149Cys) n.225G>T c.63G>T (p.Trp21Cys) n.221G>T | |
| 9 | g.98577947C>G | CA374349983 | GABBR2 | c.447G>C (p.Trp149Cys) n.225G>C c.63G>C (p.Trp21Cys) n.221G>C | |
| 9 | g.98577947C>T | CA374349982 | GABBR2 | c.447G>A (p.Trp149Ter) n.225G>A c.63G>A (p.Trp21Ter) n.221G>A | |
| 9 | g.98577948C>A | CA374349987 | GABBR2 | c.446G>T (p.Trp149Leu) n.224G>T c.62G>T (p.Trp21Leu) n.220G>T | |
| 9 | g.98577948C>G | CA374349985 | GABBR2 | c.446G>C (p.Trp149Ser) n.224G>C c.62G>C (p.Trp21Ser) n.220G>C | |
| 9 | g.98577948C>T | CA374349986 | GABBR2 | c.446G>A (p.Trp149Ter) n.224G>A c.62G>A (p.Trp21Ter) n.220G>A | |
| 9 | g.98577949A>C | CA374349988 | GABBR2 | c.445T>G (p.Trp149Gly) n.223T>G c.61T>G (p.Trp21Gly) n.219T>G |