Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.101412870_101412914del | CA2660437681 | RFX8 | c.1057+1_1057+45del (n.1057+1_1057+45del) c.718+1_718+45del (n.718+1_718+45del) c.931+1_931+45del (n.931+1_931+45del) c.844+1_844+45del (n.844+1_844+45del) c.*434+1_*434+45del (n.*434+1_*434+45del) c.946+1_946+45del (n.946+1_946+45del) c.628+1_628+45del (n.628+1_628+45del) c.430+1_430+45del (n.430+1_430+45del) n.1001+1_1001+45del c.205+1_205+45del (n.205+1_205+45del) | gnomAD v4 |
2 | g.101412910A>T | CA2577054596 | RFX8 | c.1057+5T>A (n.1057+5T>A) c.718+5T>A (n.718+5T>A) c.931+5T>A (n.931+5T>A) c.844+5T>A (n.844+5T>A) c.*434+5T>A (n.*434+5T>A) c.946+5T>A (n.946+5T>A) c.628+5T>A (n.628+5T>A) c.430+5T>A (n.430+5T>A) n.1001+5T>A c.205+5T>A (n.205+5T>A) | |
2 | g.101412910_101412911delinsAT | CA1274778564 | RFX8 | c.1057+4_1057+5delinsAT (n.1057+4_1057+5delinsAT) c.718+4_718+5delinsAT (n.718+4_718+5delinsAT) c.931+4_931+5delinsAT (n.931+4_931+5delinsAT) c.844+4_844+5delinsAT (n.844+4_844+5delinsAT) c.*434+4_*434+5delinsAT (n.*434+4_*434+5delinsAT) c.946+4_946+5delinsAT (n.946+4_946+5delinsAT) c.628+4_628+5delinsAT (n.628+4_628+5delinsAT) c.430+4_430+5delinsAT (n.430+4_430+5delinsAT) n.1001+4_1001+5delinsAT c.205+4_205+5delinsAT (n.205+4_205+5delinsAT) | |
2 | g.101412912del | CA535107059 | RFX8 | c.1057+4del (n.1057+4del) c.718+4del (n.718+4del) c.931+4del (n.931+4del) c.844+4del (n.844+4del) c.*434+4del (n.*434+4del) c.946+4del (n.946+4del) c.628+4del (n.628+4del) c.430+4del (n.430+4del) n.1001+4del c.205+4del (n.205+4del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101412912_101412914del | CA2660437693 | RFX8 | c.1057+1_1057+3del (n.1057+1_1057+3del) c.718+1_718+3del (n.718+1_718+3del) c.931+1_931+3del (n.931+1_931+3del) c.844+1_844+3del (n.844+1_844+3del) c.*434+1_*434+3del (n.*434+1_*434+3del) c.946+1_946+3del (n.946+1_946+3del) c.628+1_628+3del (n.628+1_628+3del) c.430+1_430+3del (n.430+1_430+3del) n.1001+1_1001+3del c.205+1_205+3del (n.205+1_205+3del) | gnomAD v4 |
2 | g.101412913A>C | CA347974244 | RFX8 | c.1057+2T>G (n.1057+2T>G) c.718+2T>G (n.718+2T>G) c.931+2T>G (n.931+2T>G) c.844+2T>G (n.844+2T>G) c.*434+2T>G (n.*434+2T>G) c.946+2T>G (n.946+2T>G) c.628+2T>G (n.628+2T>G) c.430+2T>G (n.430+2T>G) n.1001+2T>G c.205+2T>G (n.205+2T>G) | |
2 | g.101412913A>G | CA347974245 | RFX8 | c.1057+2T>C (n.1057+2T>C) c.718+2T>C (n.718+2T>C) c.931+2T>C (n.931+2T>C) c.844+2T>C (n.844+2T>C) c.*434+2T>C (n.*434+2T>C) c.946+2T>C (n.946+2T>C) c.628+2T>C (n.628+2T>C) c.430+2T>C (n.430+2T>C) n.1001+2T>C c.205+2T>C (n.205+2T>C) | |
2 | g.101412913A>T | CA347974246 | RFX8 | c.1057+2T>A (n.1057+2T>A) c.718+2T>A (n.718+2T>A) c.931+2T>A (n.931+2T>A) c.844+2T>A (n.844+2T>A) c.*434+2T>A (n.*434+2T>A) c.946+2T>A (n.946+2T>A) c.628+2T>A (n.628+2T>A) c.430+2T>A (n.430+2T>A) n.1001+2T>A c.205+2T>A (n.205+2T>A) | |
2 | g.101412914C>A | CA347974247 | RFX8 | c.1057+1G>T (n.1057+1G>T) c.718+1G>T (n.718+1G>T) c.931+1G>T (n.931+1G>T) c.844+1G>T (n.844+1G>T) c.*434+1G>T (n.*434+1G>T) c.946+1G>T (n.946+1G>T) c.628+1G>T (n.628+1G>T) c.430+1G>T (n.430+1G>T) n.1001+1G>T c.205+1G>T (n.205+1G>T) | |
2 | g.101412914C= | CA1274778565 | RFX8 | c.1057+1G= (n.1057+1G=) c.718+1G= (n.718+1G=) c.931+1G= (n.931+1G=) c.844+1G= (n.844+1G=) c.*434+1G= (n.*434+1G=) c.946+1G= (n.946+1G=) c.628+1G= (n.628+1G=) c.430+1G= (n.430+1G=) n.1001+1G= c.205+1G= (n.205+1G=) | |
2 | g.101412914C>G | CA347974248 | RFX8 | c.1057+1G>C (n.1057+1G>C) c.718+1G>C (n.718+1G>C) c.931+1G>C (n.931+1G>C) c.844+1G>C (n.844+1G>C) c.*434+1G>C (n.*434+1G>C) c.946+1G>C (n.946+1G>C) c.628+1G>C (n.628+1G>C) c.430+1G>C (n.430+1G>C) n.1001+1G>C c.205+1G>C (n.205+1G>C) | |
2 | g.101412914C>T | CA347974249 | RFX8 | c.1057+1G>A (n.1057+1G>A) c.718+1G>A (n.718+1G>A) c.931+1G>A (n.931+1G>A) c.844+1G>A (n.844+1G>A) c.*434+1G>A (n.*434+1G>A) c.946+1G>A (n.946+1G>A) c.628+1G>A (n.628+1G>A) c.430+1G>A (n.430+1G>A) n.1001+1G>A c.205+1G>A (n.205+1G>A) | dbSNP |
2 | g.101412915A= | CA1274778566 | RFX8 | c.1057T= (p.Cys353=) c.718T= (p.Cys240=) c.931T= (p.Cys311=) c.844T= (p.Cys282=) c.*434T= (n.*434T=) c.946T= (p.Cys316=) c.628T= (p.Cys210=) c.430T= (p.Cys144=) n.1001T= c.205T= (p.Cys69=) | |
2 | g.101412915A>C | CA347974250 | RFX8 | c.1057T>G (p.Cys353Gly) c.718T>G (p.Cys240Gly) c.931T>G (p.Cys311Gly) c.844T>G (p.Cys282Gly) c.*434T>G (n.*434T>G) c.946T>G (p.Cys316Gly) c.628T>G (p.Cys210Gly) c.430T>G (p.Cys144Gly) n.1001T>G c.205T>G (p.Cys69Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.101412915A>G | CA53230229 | RFX8 | c.1057T>C (p.Cys353Arg) c.718T>C (p.Cys240Arg) c.931T>C (p.Cys311Arg) c.844T>C (p.Cys282Arg) c.*434T>C (n.*434T>C) c.946T>C (p.Cys316Arg) c.628T>C (p.Cys210Arg) c.430T>C (p.Cys144Arg) n.1001T>C c.205T>C (p.Cys69Arg) | dbSNP gnomAD v4 |
2 | g.101412915A>T | CA347974251 | RFX8 | c.1057T>A (p.Cys353Ser) c.718T>A (p.Cys240Ser) c.931T>A (p.Cys311Ser) c.844T>A (p.Cys282Ser) c.*434T>A (n.*434T>A) c.946T>A (p.Cys316Ser) c.628T>A (p.Cys210Ser) c.430T>A (p.Cys144Ser) n.1001T>A c.205T>A (p.Cys69Ser) | |
2 | g.101412915_101412921dup | CA2660437694 | RFX8 | c.1051_1057dup (p.Cys353TyrfsTer?) c.712_718dup (p.Cys240TyrfsTer?) c.925_931dup (p.Cys311TyrfsTer?) c.838_844dup (p.Cys282TyrfsTer?) c.*428_*434dup (n.*428_*434dup) c.940_946dup (p.Cys316TyrfsTer?) c.622_628dup (p.Cys210TyrfsTer?) c.424_430dup (p.Cys144TyrfsTer?) n.995_1001dup c.199_205dup (p.Cys69TyrfsTer?) | gnomAD v4 |
2 | g.101412916T>A | CA347974253 | RFX8 | c.1056A>T (p.Lys352Asn) c.717A>T (p.Lys239Asn) c.930A>T (p.Lys310Asn) c.843A>T (p.Lys281Asn) c.*433A>T (n.*433A>T) c.945A>T (p.Lys315Asn) c.627A>T (p.Lys209Asn) c.429A>T (p.Lys143Asn) n.1000A>T c.204A>T (p.Lys68Asn) | |
2 | g.101412916T>C | CA427793029 | RFX8 | c.1056A>G (p.Lys352=) c.717A>G (p.Lys239=) c.930A>G (p.Lys310=) c.843A>G (p.Lys281=) c.*433A>G (n.*433A>G) c.945A>G (p.Lys315=) c.627A>G (p.Lys209=) c.429A>G (p.Lys143=) n.1000A>G c.204A>G (p.Lys68=) | gnomAD v4 |
2 | g.101412916T>G | CA347974252 | RFX8 | c.1056A>C (p.Lys352Asn) c.717A>C (p.Lys239Asn) c.930A>C (p.Lys310Asn) c.843A>C (p.Lys281Asn) c.*433A>C (n.*433A>C) c.945A>C (p.Lys315Asn) c.627A>C (p.Lys209Asn) c.429A>C (p.Lys143Asn) n.1000A>C c.204A>C (p.Lys68Asn) | |
2 | g.101412917T>A | CA347974254 | RFX8 | c.1055A>T (p.Lys352Ile) c.716A>T (p.Lys239Ile) c.929A>T (p.Lys310Ile) c.842A>T (p.Lys281Ile) c.*432A>T (n.*432A>T) c.944A>T (p.Lys315Ile) c.626A>T (p.Lys209Ile) c.428A>T (p.Lys143Ile) n.999A>T c.203A>T (p.Lys68Ile) | |
2 | g.101412917T>C | CA347974255 | RFX8 | c.1055A>G (p.Lys352Arg) c.716A>G (p.Lys239Arg) c.929A>G (p.Lys310Arg) c.842A>G (p.Lys281Arg) c.*432A>G (n.*432A>G) c.944A>G (p.Lys315Arg) c.626A>G (p.Lys209Arg) c.428A>G (p.Lys143Arg) n.999A>G c.203A>G (p.Lys68Arg) | |
2 | g.101412917T>G | CA347974256 | RFX8 | c.1055A>C (p.Lys352Thr) c.716A>C (p.Lys239Thr) c.929A>C (p.Lys310Thr) c.842A>C (p.Lys281Thr) c.*432A>C (n.*432A>C) c.944A>C (p.Lys315Thr) c.626A>C (p.Lys209Thr) c.428A>C (p.Lys143Thr) n.999A>C c.203A>C (p.Lys68Thr) | gnomAD v4 |
2 | g.101412918T>A | CA347974257 | RFX8 | c.1054A>T (p.Lys352Ter) c.715A>T (p.Lys239Ter) c.928A>T (p.Lys310Ter) c.841A>T (p.Lys281Ter) c.*431A>T (n.*431A>T) c.943A>T (p.Lys315Ter) c.625A>T (p.Lys209Ter) c.427A>T (p.Lys143Ter) n.998A>T c.202A>T (p.Lys68Ter) | |
2 | g.101412918T>C | CA347974258 | RFX8 | c.1054A>G (p.Lys352Glu) c.715A>G (p.Lys239Glu) c.928A>G (p.Lys310Glu) c.841A>G (p.Lys281Glu) c.*431A>G (n.*431A>G) c.943A>G (p.Lys315Glu) c.625A>G (p.Lys209Glu) c.427A>G (p.Lys143Glu) n.998A>G c.202A>G (p.Lys68Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101412918T>G | CA347974259 | RFX8 | c.1054A>C (p.Lys352Gln) c.715A>C (p.Lys239Gln) c.928A>C (p.Lys310Gln) c.841A>C (p.Lys281Gln) c.*431A>C (n.*431A>C) c.943A>C (p.Lys315Gln) c.625A>C (p.Lys209Gln) c.427A>C (p.Lys143Gln) n.998A>C c.202A>C (p.Lys68Gln) | |
2 | g.101412918T= | CA1274778567 | RFX8 | c.1054A= (p.Lys352=) c.715A= (p.Lys239=) c.928A= (p.Lys310=) c.841A= (p.Lys281=) c.*431A= (n.*431A=) c.943A= (p.Lys315=) c.625A= (p.Lys209=) c.427A= (p.Lys143=) n.998A= c.202A= (p.Lys68=) | |
2 | g.101412919C>A | CA347974260 | RFX8 | c.1053G>T (p.Met351Ile) c.714G>T (p.Met238Ile) c.927G>T (p.Met309Ile) c.840G>T (p.Met280Ile) c.*430G>T (n.*430G>T) c.942G>T (p.Met314Ile) c.624G>T (p.Met208Ile) c.426G>T (p.Met142Ile) n.997G>T c.201G>T (p.Met67Ile) | gnomAD v4 |
2 | g.101412919C>G | CA347974261 | RFX8 | c.1053G>C (p.Met351Ile) c.714G>C (p.Met238Ile) c.927G>C (p.Met309Ile) c.840G>C (p.Met280Ile) c.*430G>C (n.*430G>C) c.942G>C (p.Met314Ile) c.624G>C (p.Met208Ile) c.426G>C (p.Met142Ile) n.997G>C c.201G>C (p.Met67Ile) | |
2 | g.101412919C>T | CA347974262 | RFX8 | c.1053G>A (p.Met351Ile) c.714G>A (p.Met238Ile) c.927G>A (p.Met309Ile) c.840G>A (p.Met280Ile) c.*430G>A (n.*430G>A) c.942G>A (p.Met314Ile) c.624G>A (p.Met208Ile) c.426G>A (p.Met142Ile) n.997G>A c.201G>A (p.Met67Ile) | |
2 | g.101412920A>C | CA347974263 | RFX8 | c.1052T>G (p.Met351Arg) c.713T>G (p.Met238Arg) c.926T>G (p.Met309Arg) c.839T>G (p.Met280Arg) c.*429T>G (n.*429T>G) c.941T>G (p.Met314Arg) c.623T>G (p.Met208Arg) c.425T>G (p.Met142Arg) n.996T>G c.200T>G (p.Met67Arg) | |
2 | g.101412920A>G | CA347974264 | RFX8 | c.1052T>C (p.Met351Thr) c.713T>C (p.Met238Thr) c.926T>C (p.Met309Thr) c.839T>C (p.Met280Thr) c.*429T>C (n.*429T>C) c.941T>C (p.Met314Thr) c.623T>C (p.Met208Thr) c.425T>C (p.Met142Thr) n.996T>C c.200T>C (p.Met67Thr) | |
2 | g.101412920A>T | CA347974265 | RFX8 | c.1052T>A (p.Met351Lys) c.713T>A (p.Met238Lys) c.926T>A (p.Met309Lys) c.839T>A (p.Met280Lys) c.*429T>A (n.*429T>A) c.941T>A (p.Met314Lys) c.623T>A (p.Met208Lys) c.425T>A (p.Met142Lys) n.996T>A c.200T>A (p.Met67Lys) | |
2 | g.101412921T>A | CA347974267 | RFX8 | c.1051A>T (p.Met351Leu) c.712A>T (p.Met238Leu) c.925A>T (p.Met309Leu) c.838A>T (p.Met280Leu) c.*428A>T (n.*428A>T) c.940A>T (p.Met314Leu) c.622A>T (p.Met208Leu) c.424A>T (p.Met142Leu) n.995A>T c.199A>T (p.Met67Leu) | |
2 | g.101412921T>C | CA347974268 | RFX8 | c.1051A>G (p.Met351Val) c.712A>G (p.Met238Val) c.925A>G (p.Met309Val) c.838A>G (p.Met280Val) c.*428A>G (n.*428A>G) c.940A>G (p.Met314Val) c.622A>G (p.Met208Val) c.424A>G (p.Met142Val) n.995A>G c.199A>G (p.Met67Val) | gnomAD v4 |
2 | g.101412921T>G | CA347974266 | RFX8 | c.1051A>C (p.Met351Leu) c.712A>C (p.Met238Leu) c.925A>C (p.Met309Leu) c.838A>C (p.Met280Leu) c.*428A>C (n.*428A>C) c.940A>C (p.Met314Leu) c.622A>C (p.Met208Leu) c.424A>C (p.Met142Leu) n.995A>C c.199A>C (p.Met67Leu) | |
2 | g.101412922C>A | CA347974269 | RFX8 | c.1050G>T (p.Glu350Asp) c.711G>T (p.Glu237Asp) c.924G>T (p.Glu308Asp) c.837G>T (p.Glu279Asp) c.*427G>T (n.*427G>T) c.939G>T (p.Glu313Asp) c.621G>T (p.Glu207Asp) c.423G>T (p.Glu141Asp) n.994G>T c.198G>T (p.Glu66Asp) | |
2 | g.101412922C= | CA1274778568 | RFX8 | c.1050G= (p.Glu350=) c.711G= (p.Glu237=) c.924G= (p.Glu308=) c.837G= (p.Glu279=) c.*427G= (n.*427G=) c.939G= (p.Glu313=) c.621G= (p.Glu207=) c.423G= (p.Glu141=) n.994G= c.198G= (p.Glu66=) | |
2 | g.101412922C>G | CA347974270 | RFX8 | c.1050G>C (p.Glu350Asp) c.711G>C (p.Glu237Asp) c.924G>C (p.Glu308Asp) c.837G>C (p.Glu279Asp) c.*427G>C (n.*427G>C) c.939G>C (p.Glu313Asp) c.621G>C (p.Glu207Asp) c.423G>C (p.Glu141Asp) n.994G>C c.198G>C (p.Glu66Asp) | |
2 | g.101412922C>T | CA427793050 | RFX8 | c.1050G>A (p.Glu350=) c.711G>A (p.Glu237=) c.924G>A (p.Glu308=) c.837G>A (p.Glu279=) c.*427G>A (n.*427G>A) c.939G>A (p.Glu313=) c.621G>A (p.Glu207=) c.423G>A (p.Glu141=) n.994G>A c.198G>A (p.Glu66=) | dbSNP gnomAD v4 |
2 | g.101412923T>A | CA347974271 | RFX8 | c.1049A>T (p.Glu350Val) c.710A>T (p.Glu237Val) c.923A>T (p.Glu308Val) c.836A>T (p.Glu279Val) c.*426A>T (n.*426A>T) c.938A>T (p.Glu313Val) c.620A>T (p.Glu207Val) c.422A>T (p.Glu141Val) n.993A>T c.197A>T (p.Glu66Val) | |
2 | g.101412923T>C | CA347974272 | RFX8 | c.1049A>G (p.Glu350Gly) c.710A>G (p.Glu237Gly) c.923A>G (p.Glu308Gly) c.836A>G (p.Glu279Gly) c.*426A>G (n.*426A>G) c.938A>G (p.Glu313Gly) c.620A>G (p.Glu207Gly) c.422A>G (p.Glu141Gly) n.993A>G c.197A>G (p.Glu66Gly) | |
2 | g.101412923T>G | CA347974273 | RFX8 | c.1049A>C (p.Glu350Ala) c.710A>C (p.Glu237Ala) c.923A>C (p.Glu308Ala) c.836A>C (p.Glu279Ala) c.*426A>C (n.*426A>C) c.938A>C (p.Glu313Ala) c.620A>C (p.Glu207Ala) c.422A>C (p.Glu141Ala) n.993A>C c.197A>C (p.Glu66Ala) | |
2 | g.101412924C>A | CA347974276 | RFX8 | c.1048G>T (p.Glu350Ter) c.709G>T (p.Glu237Ter) c.922G>T (p.Glu308Ter) c.835G>T (p.Glu279Ter) c.*425G>T (n.*425G>T) c.937G>T (p.Glu313Ter) c.619G>T (p.Glu207Ter) c.421G>T (p.Glu141Ter) n.992G>T c.196G>T (p.Glu66Ter) | |
2 | g.101412924C>G | CA347974274 | RFX8 | c.1048G>C (p.Glu350Gln) c.709G>C (p.Glu237Gln) c.922G>C (p.Glu308Gln) c.835G>C (p.Glu279Gln) c.*425G>C (n.*425G>C) c.937G>C (p.Glu313Gln) c.619G>C (p.Glu207Gln) c.421G>C (p.Glu141Gln) n.992G>C c.196G>C (p.Glu66Gln) | |
2 | g.101412924C>T | CA347974275 | RFX8 | c.1048G>A (p.Glu350Lys) c.709G>A (p.Glu237Lys) c.922G>A (p.Glu308Lys) c.835G>A (p.Glu279Lys) c.*425G>A (n.*425G>A) c.937G>A (p.Glu313Lys) c.619G>A (p.Glu207Lys) c.421G>A (p.Glu141Lys) n.992G>A c.196G>A (p.Glu66Lys) | |
2 | g.101412925T>A | CA427793065 | RFX8 | c.1047A>T (p.Pro349=) c.708A>T (p.Pro236=) c.921A>T (p.Pro307=) c.834A>T (p.Pro278=) c.*424A>T (n.*424A>T) c.936A>T (p.Pro312=) c.618A>T (p.Pro206=) c.420A>T (p.Pro140=) n.991A>T c.195A>T (p.Pro65=) | |
2 | g.101412925T>C | CA427793061 | RFX8 | c.1047A>G (p.Pro349=) c.708A>G (p.Pro236=) c.921A>G (p.Pro307=) c.834A>G (p.Pro278=) c.*424A>G (n.*424A>G) c.936A>G (p.Pro312=) c.618A>G (p.Pro206=) c.420A>G (p.Pro140=) n.991A>G c.195A>G (p.Pro65=) | gnomAD v4 |
2 | g.101412925T>G | CA427793063 | RFX8 | c.1047A>C (p.Pro349=) c.708A>C (p.Pro236=) c.921A>C (p.Pro307=) c.834A>C (p.Pro278=) c.*424A>C (n.*424A>C) c.936A>C (p.Pro312=) c.618A>C (p.Pro206=) c.420A>C (p.Pro140=) n.991A>C c.195A>C (p.Pro65=) | |
2 | g.101412926G>A | CA347974277 | RFX8 | c.1046C>T (p.Pro349Leu) c.707C>T (p.Pro236Leu) c.920C>T (p.Pro307Leu) c.833C>T (p.Pro278Leu) c.*423C>T (n.*423C>T) c.935C>T (p.Pro312Leu) c.617C>T (p.Pro206Leu) c.419C>T (p.Pro140Leu) n.990C>T c.194C>T (p.Pro65Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101412926G>C | CA347974278 | RFX8 | c.1046C>G (p.Pro349Arg) c.707C>G (p.Pro236Arg) c.920C>G (p.Pro307Arg) c.833C>G (p.Pro278Arg) c.*423C>G (n.*423C>G) c.935C>G (p.Pro312Arg) c.617C>G (p.Pro206Arg) c.419C>G (p.Pro140Arg) n.990C>G c.194C>G (p.Pro65Arg) | gnomAD v4 |
2 | g.101412926G= | CA1274778569 | RFX8 | c.1046C= (p.Pro349=) c.707C= (p.Pro236=) c.920C= (p.Pro307=) c.833C= (p.Pro278=) c.*423C= (n.*423C=) c.935C= (p.Pro312=) c.617C= (p.Pro206=) c.419C= (p.Pro140=) n.990C= c.194C= (p.Pro65=) | |
2 | g.101412926G>T | CA347974279 | RFX8 | c.1046C>A (p.Pro349Gln) c.707C>A (p.Pro236Gln) c.920C>A (p.Pro307Gln) c.833C>A (p.Pro278Gln) c.*423C>A (n.*423C>A) c.935C>A (p.Pro312Gln) c.617C>A (p.Pro206Gln) c.419C>A (p.Pro140Gln) n.990C>A c.194C>A (p.Pro65Gln) | dbSNP gnomAD v4 |
2 | g.101412927G>A | CA347974280 | RFX8 | c.1045C>T (p.Pro349Ser) c.706C>T (p.Pro236Ser) c.919C>T (p.Pro307Ser) c.832C>T (p.Pro278Ser) c.*422C>T (n.*422C>T) c.934C>T (p.Pro312Ser) c.616C>T (p.Pro206Ser) c.418C>T (p.Pro140Ser) n.989C>T c.193C>T (p.Pro65Ser) | dbSNP gnomAD v4 |
2 | g.101412927G>C | CA347974281 | RFX8 | c.1045C>G (p.Pro349Ala) c.706C>G (p.Pro236Ala) c.919C>G (p.Pro307Ala) c.832C>G (p.Pro278Ala) c.*422C>G (n.*422C>G) c.934C>G (p.Pro312Ala) c.616C>G (p.Pro206Ala) c.418C>G (p.Pro140Ala) n.989C>G c.193C>G (p.Pro65Ala) | gnomAD v4 |
2 | g.101412927G= | CA1274778570 | RFX8 | c.1045C= (p.Pro349=) c.706C= (p.Pro236=) c.919C= (p.Pro307=) c.832C= (p.Pro278=) c.*422C= (n.*422C=) c.934C= (p.Pro312=) c.616C= (p.Pro206=) c.418C= (p.Pro140=) n.989C= c.193C= (p.Pro65=) | |
2 | g.101412927G>T | CA347974282 | RFX8 | c.1045C>A (p.Pro349Thr) c.706C>A (p.Pro236Thr) c.919C>A (p.Pro307Thr) c.832C>A (p.Pro278Thr) c.*422C>A (n.*422C>A) c.934C>A (p.Pro312Thr) c.616C>A (p.Pro206Thr) c.418C>A (p.Pro140Thr) n.989C>A c.193C>A (p.Pro65Thr) | gnomAD v4 |
2 | g.101412928G>A | CA427793076 | RFX8 | c.1044C>T (p.Asn348=) c.705C>T (p.Asn235=) c.918C>T (p.Asn306=) c.831C>T (p.Asn277=) c.*421C>T (n.*421C>T) c.933C>T (p.Asn311=) c.615C>T (p.Asn205=) c.417C>T (p.Asn139=) n.988C>T c.192C>T (p.Asn64=) | |
2 | g.101412928G>C | CA347974283 | RFX8 | c.1044C>G (p.Asn348Lys) c.705C>G (p.Asn235Lys) c.918C>G (p.Asn306Lys) c.831C>G (p.Asn277Lys) c.*421C>G (n.*421C>G) c.933C>G (p.Asn311Lys) c.615C>G (p.Asn205Lys) c.417C>G (p.Asn139Lys) n.988C>G c.192C>G (p.Asn64Lys) | |
2 | g.101412928G>T | CA347974284 | RFX8 | c.1044C>A (p.Asn348Lys) c.705C>A (p.Asn235Lys) c.918C>A (p.Asn306Lys) c.831C>A (p.Asn277Lys) c.*421C>A (n.*421C>A) c.933C>A (p.Asn311Lys) c.615C>A (p.Asn205Lys) c.417C>A (p.Asn139Lys) n.988C>A c.192C>A (p.Asn64Lys) | |
2 | g.101412929T>A | CA347974285 | RFX8 | c.1043A>T (p.Asn348Ile) c.704A>T (p.Asn235Ile) c.917A>T (p.Asn306Ile) c.830A>T (p.Asn277Ile) c.*420A>T (n.*420A>T) c.932A>T (p.Asn311Ile) c.614A>T (p.Asn205Ile) c.416A>T (p.Asn139Ile) n.987A>T c.191A>T (p.Asn64Ile) | |
2 | g.101412929T>C | CA347974287 | RFX8 | c.1043A>G (p.Asn348Ser) c.704A>G (p.Asn235Ser) c.917A>G (p.Asn306Ser) c.830A>G (p.Asn277Ser) c.*420A>G (n.*420A>G) c.932A>G (p.Asn311Ser) c.614A>G (p.Asn205Ser) c.416A>G (p.Asn139Ser) n.987A>G c.191A>G (p.Asn64Ser) | |
2 | g.101412929T>G | CA347974286 | RFX8 | c.1043A>C (p.Asn348Thr) c.704A>C (p.Asn235Thr) c.917A>C (p.Asn306Thr) c.830A>C (p.Asn277Thr) c.*420A>C (n.*420A>C) c.932A>C (p.Asn311Thr) c.614A>C (p.Asn205Thr) c.416A>C (p.Asn139Thr) n.987A>C c.191A>C (p.Asn64Thr) | dbSNP |
2 | g.101412929T= | CA1274778571 | RFX8 | c.1043A= (p.Asn348=) c.704A= (p.Asn235=) c.917A= (p.Asn306=) c.830A= (p.Asn277=) c.*420A= (n.*420A=) c.932A= (p.Asn311=) c.614A= (p.Asn205=) c.416A= (p.Asn139=) n.987A= c.191A= (p.Asn64=) | |
2 | g.101412930T>A | CA347974288 | RFX8 | c.1042A>T (p.Asn348Tyr) c.703A>T (p.Asn235Tyr) c.916A>T (p.Asn306Tyr) c.829A>T (p.Asn277Tyr) c.*419A>T (n.*419A>T) c.931A>T (p.Asn311Tyr) c.613A>T (p.Asn205Tyr) c.415A>T (p.Asn139Tyr) n.986A>T c.190A>T (p.Asn64Tyr) | |
2 | g.101412930T>C | CA347974289 | RFX8 | c.1042A>G (p.Asn348Asp) c.703A>G (p.Asn235Asp) c.916A>G (p.Asn306Asp) c.829A>G (p.Asn277Asp) c.*419A>G (n.*419A>G) c.931A>G (p.Asn311Asp) c.613A>G (p.Asn205Asp) c.415A>G (p.Asn139Asp) n.986A>G c.190A>G (p.Asn64Asp) | |
2 | g.101412930T>G | CA347974290 | RFX8 | c.1042A>C (p.Asn348His) c.703A>C (p.Asn235His) c.916A>C (p.Asn306His) c.829A>C (p.Asn277His) c.*419A>C (n.*419A>C) c.931A>C (p.Asn311His) c.613A>C (p.Asn205His) c.415A>C (p.Asn139His) n.986A>C c.190A>C (p.Asn64His) | |
2 | g.101412931G>A | CA427793090 | RFX8 | c.1041C>T (p.Asn347=) c.702C>T (p.Asn234=) c.915C>T (p.Asn305=) c.828C>T (p.Asn276=) c.*418C>T (n.*418C>T) c.930C>T (p.Asn310=) c.612C>T (p.Asn204=) c.414C>T (p.Asn138=) n.985C>T c.189C>T (p.Asn63=) | dbSNP |
2 | g.101412931G>C | CA347974291 | RFX8 | c.1041C>G (p.Asn347Lys) c.702C>G (p.Asn234Lys) c.915C>G (p.Asn305Lys) c.828C>G (p.Asn276Lys) c.*418C>G (n.*418C>G) c.930C>G (p.Asn310Lys) c.612C>G (p.Asn204Lys) c.414C>G (p.Asn138Lys) n.985C>G c.189C>G (p.Asn63Lys) | |
2 | g.101412931G= | CA1274778572 | RFX8 | c.1041C= (p.Asn347=) c.702C= (p.Asn234=) c.915C= (p.Asn305=) c.828C= (p.Asn276=) c.*418C= (n.*418C=) c.930C= (p.Asn310=) c.612C= (p.Asn204=) c.414C= (p.Asn138=) n.985C= c.189C= (p.Asn63=) | |
2 | g.101412931G>T | CA347974292 | RFX8 | c.1041C>A (p.Asn347Lys) c.702C>A (p.Asn234Lys) c.915C>A (p.Asn305Lys) c.828C>A (p.Asn276Lys) c.*418C>A (n.*418C>A) c.930C>A (p.Asn310Lys) c.612C>A (p.Asn204Lys) c.414C>A (p.Asn138Lys) n.985C>A c.189C>A (p.Asn63Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.101412932T>A | CA347974293 | RFX8 | c.1040A>T (p.Asn347Ile) c.701A>T (p.Asn234Ile) c.914A>T (p.Asn305Ile) c.827A>T (p.Asn276Ile) c.*417A>T (n.*417A>T) c.929A>T (p.Asn310Ile) c.611A>T (p.Asn204Ile) c.413A>T (p.Asn138Ile) n.984A>T c.188A>T (p.Asn63Ile) | |
2 | g.101412932T>C | CA347974294 | RFX8 | c.1040A>G (p.Asn347Ser) c.701A>G (p.Asn234Ser) c.914A>G (p.Asn305Ser) c.827A>G (p.Asn276Ser) c.*417A>G (n.*417A>G) c.929A>G (p.Asn310Ser) c.611A>G (p.Asn204Ser) c.413A>G (p.Asn138Ser) n.984A>G c.188A>G (p.Asn63Ser) | |
2 | g.101412932T>G | CA347974295 | RFX8 | c.1040A>C (p.Asn347Thr) c.701A>C (p.Asn234Thr) c.914A>C (p.Asn305Thr) c.827A>C (p.Asn276Thr) c.*417A>C (n.*417A>C) c.929A>C (p.Asn310Thr) c.611A>C (p.Asn204Thr) c.413A>C (p.Asn138Thr) n.984A>C c.188A>C (p.Asn63Thr) | |
2 | g.101412933T>A | CA347974296 | RFX8 | c.1039A>T (p.Asn347Tyr) c.700A>T (p.Asn234Tyr) c.913A>T (p.Asn305Tyr) c.826A>T (p.Asn276Tyr) c.*416A>T (n.*416A>T) c.928A>T (p.Asn310Tyr) c.610A>T (p.Asn204Tyr) c.412A>T (p.Asn138Tyr) n.983A>T c.187A>T (p.Asn63Tyr) | |
2 | g.101412933T>C | CA347974297 | RFX8 | c.1039A>G (p.Asn347Asp) c.700A>G (p.Asn234Asp) c.913A>G (p.Asn305Asp) c.826A>G (p.Asn276Asp) c.*416A>G (n.*416A>G) c.928A>G (p.Asn310Asp) c.610A>G (p.Asn204Asp) c.412A>G (p.Asn138Asp) n.983A>G c.187A>G (p.Asn63Asp) | |
2 | g.101412933T>G | CA347974298 | RFX8 | c.1039A>C (p.Asn347His) c.700A>C (p.Asn234His) c.913A>C (p.Asn305His) c.826A>C (p.Asn276His) c.*416A>C (n.*416A>C) c.928A>C (p.Asn310His) c.610A>C (p.Asn204His) c.412A>C (p.Asn138His) n.983A>C c.187A>C (p.Asn63His) | |
2 | g.101412934C>A | CA347974299 | RFX8 | c.1038G>T (p.Glu346Asp) c.699G>T (p.Glu233Asp) c.912G>T (p.Glu304Asp) c.825G>T (p.Glu275Asp) c.*415G>T (n.*415G>T) c.927G>T (p.Glu309Asp) c.609G>T (p.Glu203Asp) c.411G>T (p.Glu137Asp) n.982G>T c.186G>T (p.Glu62Asp) | |
2 | g.101412934C>G | CA347974300 | RFX8 | c.1038G>C (p.Glu346Asp) c.699G>C (p.Glu233Asp) c.912G>C (p.Glu304Asp) c.825G>C (p.Glu275Asp) c.*415G>C (n.*415G>C) c.927G>C (p.Glu309Asp) c.609G>C (p.Glu203Asp) c.411G>C (p.Glu137Asp) n.982G>C c.186G>C (p.Glu62Asp) | |
2 | g.101412934C>T | CA427793104 | RFX8 | c.1038G>A (p.Glu346=) c.699G>A (p.Glu233=) c.912G>A (p.Glu304=) c.825G>A (p.Glu275=) c.*415G>A (n.*415G>A) c.927G>A (p.Glu309=) c.609G>A (p.Glu203=) c.411G>A (p.Glu137=) n.982G>A c.186G>A (p.Glu62=) | |
2 | g.101412935T>A | CA347974303 | RFX8 | c.1037A>T (p.Glu346Val) c.698A>T (p.Glu233Val) c.911A>T (p.Glu304Val) c.824A>T (p.Glu275Val) c.*414A>T (n.*414A>T) c.926A>T (p.Glu309Val) c.608A>T (p.Glu203Val) c.410A>T (p.Glu137Val) n.981A>T c.185A>T (p.Glu62Val) | |
2 | g.101412935T>C | CA347974302 | RFX8 | c.1037A>G (p.Glu346Gly) c.698A>G (p.Glu233Gly) c.911A>G (p.Glu304Gly) c.824A>G (p.Glu275Gly) c.*414A>G (n.*414A>G) c.926A>G (p.Glu309Gly) c.608A>G (p.Glu203Gly) c.410A>G (p.Glu137Gly) n.981A>G c.185A>G (p.Glu62Gly) | |
2 | g.101412935T>G | CA347974301 | RFX8 | c.1037A>C (p.Glu346Ala) c.698A>C (p.Glu233Ala) c.911A>C (p.Glu304Ala) c.824A>C (p.Glu275Ala) c.*414A>C (n.*414A>C) c.926A>C (p.Glu309Ala) c.608A>C (p.Glu203Ala) c.410A>C (p.Glu137Ala) n.981A>C c.185A>C (p.Glu62Ala) | |
2 | g.101412936C>A | CA347974304 | RFX8 | c.1036G>T (p.Glu346Ter) c.697G>T (p.Glu233Ter) c.910G>T (p.Glu304Ter) c.823G>T (p.Glu275Ter) c.*413G>T (n.*413G>T) c.925G>T (p.Glu309Ter) c.607G>T (p.Glu203Ter) c.409G>T (p.Glu137Ter) n.980G>T c.184G>T (p.Glu62Ter) | |
2 | g.101412936C= | CA1274778573 | RFX8 | c.1036G= (p.Glu346=) c.697G= (p.Glu233=) c.910G= (p.Glu304=) c.823G= (p.Glu275=) c.*413G= (n.*413G=) c.925G= (p.Glu309=) c.607G= (p.Glu203=) c.409G= (p.Glu137=) n.980G= c.184G= (p.Glu62=) | |
2 | g.101412936C>G | CA347974305 | RFX8 | c.1036G>C (p.Glu346Gln) c.697G>C (p.Glu233Gln) c.910G>C (p.Glu304Gln) c.823G>C (p.Glu275Gln) c.*413G>C (n.*413G>C) c.925G>C (p.Glu309Gln) c.607G>C (p.Glu203Gln) c.409G>C (p.Glu137Gln) n.980G>C c.184G>C (p.Glu62Gln) | |
2 | g.101412936C>T | CA53230231 | RFX8 | c.1036G>A (p.Glu346Lys) c.697G>A (p.Glu233Lys) c.910G>A (p.Glu304Lys) c.823G>A (p.Glu275Lys) c.*413G>A (n.*413G>A) c.925G>A (p.Glu309Lys) c.607G>A (p.Glu203Lys) c.409G>A (p.Glu137Lys) n.980G>A c.184G>A (p.Glu62Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101412937C>A | CA427793115 | RFX8 | c.1035G>T (p.Leu345=) c.696G>T (p.Leu232=) c.909G>T (p.Leu303=) c.822G>T (p.Leu274=) c.*412G>T (n.*412G>T) c.924G>T (p.Leu308=) c.606G>T (p.Leu202=) c.408G>T (p.Leu136=) n.979G>T c.183G>T (p.Leu61=) | |
2 | g.101412937C>G | CA427793117 | RFX8 | c.1035G>C (p.Leu345=) c.696G>C (p.Leu232=) c.909G>C (p.Leu303=) c.822G>C (p.Leu274=) c.*412G>C (n.*412G>C) c.924G>C (p.Leu308=) c.606G>C (p.Leu202=) c.408G>C (p.Leu136=) n.979G>C c.183G>C (p.Leu61=) | |
2 | g.101412937C>T | CA427793118 | RFX8 | c.1035G>A (p.Leu345=) c.696G>A (p.Leu232=) c.909G>A (p.Leu303=) c.822G>A (p.Leu274=) c.*412G>A (n.*412G>A) c.924G>A (p.Leu308=) c.606G>A (p.Leu202=) c.408G>A (p.Leu136=) n.979G>A c.183G>A (p.Leu61=) | |
2 | g.101412938A>C | CA347974306 | RFX8 | c.1034T>G (p.Leu345Arg) c.695T>G (p.Leu232Arg) c.908T>G (p.Leu303Arg) c.821T>G (p.Leu274Arg) c.*411T>G (n.*411T>G) c.923T>G (p.Leu308Arg) c.605T>G (p.Leu202Arg) c.407T>G (p.Leu136Arg) n.978T>G c.182T>G (p.Leu61Arg) | |
2 | g.101412938A>G | CA347974307 | RFX8 | c.1034T>C (p.Leu345Pro) c.695T>C (p.Leu232Pro) c.908T>C (p.Leu303Pro) c.821T>C (p.Leu274Pro) c.*411T>C (n.*411T>C) c.923T>C (p.Leu308Pro) c.605T>C (p.Leu202Pro) c.407T>C (p.Leu136Pro) n.978T>C c.182T>C (p.Leu61Pro) | |
2 | g.101412938A>T | CA347974308 | RFX8 | c.1034T>A (p.Leu345Gln) c.695T>A (p.Leu232Gln) c.908T>A (p.Leu303Gln) c.821T>A (p.Leu274Gln) c.*411T>A (n.*411T>A) c.923T>A (p.Leu308Gln) c.605T>A (p.Leu202Gln) c.407T>A (p.Leu136Gln) n.978T>A c.182T>A (p.Leu61Gln) | |
2 | g.101412939G>A | CA427793126 | RFX8 | c.1033C>T (p.Leu345=) c.694C>T (p.Leu232=) c.907C>T (p.Leu303=) c.820C>T (p.Leu274=) c.*410C>T (n.*410C>T) c.922C>T (p.Leu308=) c.604C>T (p.Leu202=) c.406C>T (p.Leu136=) n.977C>T c.181C>T (p.Leu61=) | |
2 | g.101412939G>C | CA347974309 | RFX8 | c.1033C>G (p.Leu345Val) c.694C>G (p.Leu232Val) c.907C>G (p.Leu303Val) c.820C>G (p.Leu274Val) c.*410C>G (n.*410C>G) c.922C>G (p.Leu308Val) c.604C>G (p.Leu202Val) c.406C>G (p.Leu136Val) n.977C>G c.181C>G (p.Leu61Val) | |
2 | g.101412939G>T | CA347974310 | RFX8 | c.1033C>A (p.Leu345Met) c.694C>A (p.Leu232Met) c.907C>A (p.Leu303Met) c.820C>A (p.Leu274Met) c.*410C>A (n.*410C>A) c.922C>A (p.Leu308Met) c.604C>A (p.Leu202Met) c.406C>A (p.Leu136Met) n.977C>A c.181C>A (p.Leu61Met) | |
2 | g.101412940T>A | CA347974311 | RFX8 | c.1032A>T (p.Glu344Asp) c.693A>T (p.Glu231Asp) c.906A>T (p.Glu302Asp) c.819A>T (p.Glu273Asp) c.*409A>T (n.*409A>T) c.921A>T (p.Glu307Asp) c.603A>T (p.Glu201Asp) c.405A>T (p.Glu135Asp) n.976A>T c.180A>T (p.Glu60Asp) | |
2 | g.101412940T>C | CA427793132 | RFX8 | c.1032A>G (p.Glu344=) c.693A>G (p.Glu231=) c.906A>G (p.Glu302=) c.819A>G (p.Glu273=) c.*409A>G (n.*409A>G) c.921A>G (p.Glu307=) c.603A>G (p.Glu201=) c.405A>G (p.Glu135=) n.976A>G c.180A>G (p.Glu60=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101412940T>G | CA347974312 | RFX8 | c.1032A>C (p.Glu344Asp) c.693A>C (p.Glu231Asp) c.906A>C (p.Glu302Asp) c.819A>C (p.Glu273Asp) c.*409A>C (n.*409A>C) c.921A>C (p.Glu307Asp) c.603A>C (p.Glu201Asp) c.405A>C (p.Glu135Asp) n.976A>C c.180A>C (p.Glu60Asp) | |
2 | g.101412940T= | CA1274778574 | RFX8 | c.1032A= (p.Glu344=) c.693A= (p.Glu231=) c.906A= (p.Glu302=) c.819A= (p.Glu273=) c.*409A= (n.*409A=) c.921A= (p.Glu307=) c.603A= (p.Glu201=) c.405A= (p.Glu135=) n.976A= c.180A= (p.Glu60=) | |
2 | g.101412941T>A | CA347974313 | RFX8 | c.1031A>T (p.Glu344Val) c.692A>T (p.Glu231Val) c.905A>T (p.Glu302Val) c.818A>T (p.Glu273Val) c.*408A>T (n.*408A>T) c.920A>T (p.Glu307Val) c.602A>T (p.Glu201Val) c.404A>T (p.Glu135Val) n.975A>T c.179A>T (p.Glu60Val) | dbSNP gnomAD v2 |
2 | g.101412941T>C | CA347974314 | RFX8 | c.1031A>G (p.Glu344Gly) c.692A>G (p.Glu231Gly) c.905A>G (p.Glu302Gly) c.818A>G (p.Glu273Gly) c.*408A>G (n.*408A>G) c.920A>G (p.Glu307Gly) c.602A>G (p.Glu201Gly) c.404A>G (p.Glu135Gly) n.975A>G c.179A>G (p.Glu60Gly) | |
2 | g.101412941T>G | CA347974315 | RFX8 | c.1031A>C (p.Glu344Ala) c.692A>C (p.Glu231Ala) c.905A>C (p.Glu302Ala) c.818A>C (p.Glu273Ala) c.*408A>C (n.*408A>C) c.920A>C (p.Glu307Ala) c.602A>C (p.Glu201Ala) c.404A>C (p.Glu135Ala) n.975A>C c.179A>C (p.Glu60Ala) | |
2 | g.101412941T= | CA1274778575 | RFX8 | c.1031A= (p.Glu344=) c.692A= (p.Glu231=) c.905A= (p.Glu302=) c.818A= (p.Glu273=) c.*408A= (n.*408A=) c.920A= (p.Glu307=) c.602A= (p.Glu201=) c.404A= (p.Glu135=) n.975A= c.179A= (p.Glu60=) | |
2 | g.101412942C>A | CA347974317 | RFX8 | c.1030G>T (p.Glu344Ter) c.691G>T (p.Glu231Ter) c.904G>T (p.Glu302Ter) c.817G>T (p.Glu273Ter) c.*407G>T (n.*407G>T) c.919G>T (p.Glu307Ter) c.601G>T (p.Glu201Ter) c.403G>T (p.Glu135Ter) n.974G>T c.178G>T (p.Glu60Ter) | |
2 | g.101412942C= | CA1274778576 | RFX8 | c.1030G= (p.Glu344=) c.691G= (p.Glu231=) c.904G= (p.Glu302=) c.817G= (p.Glu273=) c.*407G= (n.*407G=) c.919G= (p.Glu307=) c.601G= (p.Glu201=) c.403G= (p.Glu135=) n.974G= c.178G= (p.Glu60=) | |
2 | g.101412942C>G | CA347974318 | RFX8 | c.1030G>C (p.Glu344Gln) c.691G>C (p.Glu231Gln) c.904G>C (p.Glu302Gln) c.817G>C (p.Glu273Gln) c.*407G>C (n.*407G>C) c.919G>C (p.Glu307Gln) c.601G>C (p.Glu201Gln) c.403G>C (p.Glu135Gln) n.974G>C c.178G>C (p.Glu60Gln) | |
2 | g.101412942C>T | CA347974316 | RFX8 | c.1030G>A (p.Glu344Lys) c.691G>A (p.Glu231Lys) c.904G>A (p.Glu302Lys) c.817G>A (p.Glu273Lys) c.*407G>A (n.*407G>A) c.919G>A (p.Glu307Lys) c.601G>A (p.Glu201Lys) c.403G>A (p.Glu135Lys) n.974G>A c.178G>A (p.Glu60Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101412943A>C | CA347974319 | RFX8 | c.1029T>G (p.Asp343Glu) c.690T>G (p.Asp230Glu) c.903T>G (p.Asp301Glu) c.816T>G (p.Asp272Glu) c.*406T>G (n.*406T>G) c.918T>G (p.Asp306Glu) c.600T>G (p.Asp200Glu) c.402T>G (p.Asp134Glu) n.973T>G c.177T>G (p.Asp59Glu) | |
2 | g.101412943A>G | CA427793142 | RFX8 | c.1029T>C (p.Asp343=) c.690T>C (p.Asp230=) c.903T>C (p.Asp301=) c.816T>C (p.Asp272=) c.*406T>C (n.*406T>C) c.918T>C (p.Asp306=) c.600T>C (p.Asp200=) c.402T>C (p.Asp134=) n.973T>C c.177T>C (p.Asp59=) | |
2 | g.101412943A>T | CA347974320 | RFX8 | c.1029T>A (p.Asp343Glu) c.690T>A (p.Asp230Glu) c.903T>A (p.Asp301Glu) c.816T>A (p.Asp272Glu) c.*406T>A (n.*406T>A) c.918T>A (p.Asp306Glu) c.600T>A (p.Asp200Glu) c.402T>A (p.Asp134Glu) n.973T>A c.177T>A (p.Asp59Glu) | |
2 | g.101412944T>A | CA347974321 | RFX8 | c.1028A>T (p.Asp343Val) c.689A>T (p.Asp230Val) c.902A>T (p.Asp301Val) c.815A>T (p.Asp272Val) c.*405A>T (n.*405A>T) c.917A>T (p.Asp306Val) c.599A>T (p.Asp200Val) c.401A>T (p.Asp134Val) n.972A>T c.176A>T (p.Asp59Val) | gnomAD v4 |
2 | g.101412944T>C | CA347974322 | RFX8 | c.1028A>G (p.Asp343Gly) c.689A>G (p.Asp230Gly) c.902A>G (p.Asp301Gly) c.815A>G (p.Asp272Gly) c.*405A>G (n.*405A>G) c.917A>G (p.Asp306Gly) c.599A>G (p.Asp200Gly) c.401A>G (p.Asp134Gly) n.972A>G c.176A>G (p.Asp59Gly) | |
2 | g.101412944T>G | CA347974323 | RFX8 | c.1028A>C (p.Asp343Ala) c.689A>C (p.Asp230Ala) c.902A>C (p.Asp301Ala) c.815A>C (p.Asp272Ala) c.*405A>C (n.*405A>C) c.917A>C (p.Asp306Ala) c.599A>C (p.Asp200Ala) c.401A>C (p.Asp134Ala) n.972A>C c.176A>C (p.Asp59Ala) | |
2 | g.101412945C>A | CA347974324 | RFX8 | c.1027G>T (p.Asp343Tyr) c.688G>T (p.Asp230Tyr) c.901G>T (p.Asp301Tyr) c.814G>T (p.Asp272Tyr) c.*404G>T (n.*404G>T) c.916G>T (p.Asp306Tyr) c.598G>T (p.Asp200Tyr) c.400G>T (p.Asp134Tyr) n.971G>T c.175G>T (p.Asp59Tyr) | |
2 | g.101412945C>G | CA347974325 | RFX8 | c.1027G>C (p.Asp343His) c.688G>C (p.Asp230His) c.901G>C (p.Asp301His) c.814G>C (p.Asp272His) c.*404G>C (n.*404G>C) c.916G>C (p.Asp306His) c.598G>C (p.Asp200His) c.400G>C (p.Asp134His) n.971G>C c.175G>C (p.Asp59His) | gnomAD v4 |
2 | g.101412945C>T | CA347974326 | RFX8 | c.1027G>A (p.Asp343Asn) c.688G>A (p.Asp230Asn) c.901G>A (p.Asp301Asn) c.814G>A (p.Asp272Asn) c.*404G>A (n.*404G>A) c.916G>A (p.Asp306Asn) c.598G>A (p.Asp200Asn) c.400G>A (p.Asp134Asn) n.971G>A c.175G>A (p.Asp59Asn) | |
2 | g.101412946T>A | CA427793153 | RFX8 | c.1026A>T (p.Ala342=) c.687A>T (p.Ala229=) c.900A>T (p.Ala300=) c.813A>T (p.Ala271=) c.*403A>T (n.*403A>T) c.915A>T (p.Ala305=) c.597A>T (p.Ala199=) c.399A>T (p.Ala133=) n.970A>T c.174A>T (p.Ala58=) | |
2 | g.101412946T>C | CA427793154 | RFX8 | c.1026A>G (p.Ala342=) c.687A>G (p.Ala229=) c.900A>G (p.Ala300=) c.813A>G (p.Ala271=) c.*403A>G (n.*403A>G) c.915A>G (p.Ala305=) c.597A>G (p.Ala199=) c.399A>G (p.Ala133=) n.970A>G c.174A>G (p.Ala58=) | |
2 | g.101412946T>G | CA427793157 | RFX8 | c.1026A>C (p.Ala342=) c.687A>C (p.Ala229=) c.900A>C (p.Ala300=) c.813A>C (p.Ala271=) c.*403A>C (n.*403A>C) c.915A>C (p.Ala305=) c.597A>C (p.Ala199=) c.399A>C (p.Ala133=) n.970A>C c.174A>C (p.Ala58=) | |
2 | g.101412947G>A | CA347974327 | RFX8 | c.1025C>T (p.Ala342Val) c.686C>T (p.Ala229Val) c.899C>T (p.Ala300Val) c.812C>T (p.Ala271Val) c.*402C>T (n.*402C>T) c.914C>T (p.Ala305Val) c.596C>T (p.Ala199Val) c.398C>T (p.Ala133Val) c.*99C>T (n.*99C>T) n.969C>T c.173C>T (p.Ala58Val) | |
2 | g.101412947G>C | CA347974328 | RFX8 | c.1025C>G (p.Ala342Gly) c.686C>G (p.Ala229Gly) c.899C>G (p.Ala300Gly) c.812C>G (p.Ala271Gly) c.*402C>G (n.*402C>G) c.914C>G (p.Ala305Gly) c.596C>G (p.Ala199Gly) c.398C>G (p.Ala133Gly) c.*99C>G (n.*99C>G) n.969C>G c.173C>G (p.Ala58Gly) | |
2 | g.101412947G>T | CA347974329 | RFX8 | c.1025C>A (p.Ala342Glu) c.686C>A (p.Ala229Glu) c.899C>A (p.Ala300Glu) c.812C>A (p.Ala271Glu) c.*402C>A (n.*402C>A) c.914C>A (p.Ala305Glu) c.596C>A (p.Ala199Glu) c.398C>A (p.Ala133Glu) c.*99C>A (n.*99C>A) n.969C>A c.173C>A (p.Ala58Glu) | |
2 | g.101412948C>A | CA347974331 | RFX8 | c.1024G>T (p.Ala342Ser) c.685G>T (p.Ala229Ser) c.898G>T (p.Ala300Ser) c.811G>T (p.Ala271Ser) c.*401G>T (n.*401G>T) c.913G>T (p.Ala305Ser) c.595G>T (p.Ala199Ser) c.397G>T (p.Ala133Ser) c.*98G>T (n.*98G>T) n.968G>T c.172G>T (p.Ala58Ser) | |
2 | g.101412948C= | CA1274778577 | RFX8 | c.1024G= (p.Ala342=) c.685G= (p.Ala229=) c.898G= (p.Ala300=) c.811G= (p.Ala271=) c.*401G= (n.*401G=) c.913G= (p.Ala305=) c.595G= (p.Ala199=) c.397G= (p.Ala133=) c.*98G= (n.*98G=) n.968G= c.172G= (p.Ala58=) | |
2 | g.101412948C>G | CA347974330 | RFX8 | c.1024G>C (p.Ala342Pro) c.685G>C (p.Ala229Pro) c.898G>C (p.Ala300Pro) c.811G>C (p.Ala271Pro) c.*401G>C (n.*401G>C) c.913G>C (p.Ala305Pro) c.595G>C (p.Ala199Pro) c.397G>C (p.Ala133Pro) c.*98G>C (n.*98G>C) n.968G>C c.172G>C (p.Ala58Pro) | |
2 | g.101412948C>T | CA1806426 | RFX8 | c.1024G>A (p.Ala342Thr) c.685G>A (p.Ala229Thr) c.898G>A (p.Ala300Thr) c.811G>A (p.Ala271Thr) c.*401G>A (n.*401G>A) c.913G>A (p.Ala305Thr) c.595G>A (p.Ala199Thr) c.397G>A (p.Ala133Thr) c.*98G>A (n.*98G>A) n.968G>A c.172G>A (p.Ala58Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.101412949G>A | CA1806427 | RFX8 | c.1023C>T (p.Gly341=) c.684C>T (p.Gly228=) c.897C>T (p.Gly299=) c.810C>T (p.Gly270=) c.*400C>T (n.*400C>T) c.912C>T (p.Gly304=) c.594C>T (p.Gly198=) c.396C>T (p.Gly132=) c.*97C>T (n.*97C>T) n.967C>T c.171C>T (p.Gly57=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101412949G>C | CA427793169 | RFX8 | c.1023C>G (p.Gly341=) c.684C>G (p.Gly228=) c.897C>G (p.Gly299=) c.810C>G (p.Gly270=) c.*400C>G (n.*400C>G) c.912C>G (p.Gly304=) c.594C>G (p.Gly198=) c.396C>G (p.Gly132=) c.*97C>G (n.*97C>G) n.967C>G c.171C>G (p.Gly57=) | |
2 | g.101412949G= | CA1274778578 | RFX8 | c.1023C= (p.Gly341=) c.684C= (p.Gly228=) c.897C= (p.Gly299=) c.810C= (p.Gly270=) c.*400C= (n.*400C=) c.912C= (p.Gly304=) c.594C= (p.Gly198=) c.396C= (p.Gly132=) c.*97C= (n.*97C=) n.967C= c.171C= (p.Gly57=) | |
2 | g.101412949G>T | CA427793172 | RFX8 | c.1023C>A (p.Gly341=) c.684C>A (p.Gly228=) c.897C>A (p.Gly299=) c.810C>A (p.Gly270=) c.*400C>A (n.*400C>A) c.912C>A (p.Gly304=) c.594C>A (p.Gly198=) c.396C>A (p.Gly132=) c.*97C>A (n.*97C>A) n.967C>A c.171C>A (p.Gly57=) | |
2 | g.101412950C>A | CA347974332 | RFX8 | c.1022G>T (p.Gly341Val) c.683G>T (p.Gly228Val) c.896G>T (p.Gly299Val) c.809G>T (p.Gly270Val) c.*399G>T (n.*399G>T) c.911G>T (p.Gly304Val) c.593G>T (p.Gly198Val) c.395G>T (p.Gly132Val) c.*96G>T (n.*96G>T) n.966G>T c.170G>T (p.Gly57Val) | |
2 | g.101412950C>G | CA347974333 | RFX8 | c.1022G>C (p.Gly341Ala) c.683G>C (p.Gly228Ala) c.896G>C (p.Gly299Ala) c.809G>C (p.Gly270Ala) c.*399G>C (n.*399G>C) c.911G>C (p.Gly304Ala) c.593G>C (p.Gly198Ala) c.395G>C (p.Gly132Ala) c.*96G>C (n.*96G>C) n.966G>C c.170G>C (p.Gly57Ala) | |
2 | g.101412950C>T | CA347974334 | RFX8 | c.1022G>A (p.Gly341Asp) c.683G>A (p.Gly228Asp) c.896G>A (p.Gly299Asp) c.809G>A (p.Gly270Asp) c.*399G>A (n.*399G>A) c.911G>A (p.Gly304Asp) c.593G>A (p.Gly198Asp) c.395G>A (p.Gly132Asp) c.*96G>A (n.*96G>A) n.966G>A c.170G>A (p.Gly57Asp) | |
2 | g.101412951C>A | CA347974335 | RFX8 | c.1021G>T (p.Gly341Cys) c.682G>T (p.Gly228Cys) c.895G>T (p.Gly299Cys) c.808G>T (p.Gly270Cys) c.*398G>T (n.*398G>T) c.910G>T (p.Gly304Cys) c.592G>T (p.Gly198Cys) c.394G>T (p.Gly132Cys) c.*95G>T (n.*95G>T) n.965G>T c.169G>T (p.Gly57Cys) | |
2 | g.101412951C>G | CA347974336 | RFX8 | c.1021G>C (p.Gly341Arg) c.682G>C (p.Gly228Arg) c.895G>C (p.Gly299Arg) c.808G>C (p.Gly270Arg) c.*398G>C (n.*398G>C) c.910G>C (p.Gly304Arg) c.592G>C (p.Gly198Arg) c.394G>C (p.Gly132Arg) c.*95G>C (n.*95G>C) n.965G>C c.169G>C (p.Gly57Arg) | |
2 | g.101412951C>T | CA347974337 | RFX8 | c.1021G>A (p.Gly341Ser) c.682G>A (p.Gly228Ser) c.895G>A (p.Gly299Ser) c.808G>A (p.Gly270Ser) c.*398G>A (n.*398G>A) c.910G>A (p.Gly304Ser) c.592G>A (p.Gly198Ser) c.394G>A (p.Gly132Ser) c.*95G>A (n.*95G>A) n.965G>A c.169G>A (p.Gly57Ser) | gnomAD v4 |
2 | g.101412952A= | CA1274778579 | RFX8 | c.1020T= (p.Ser340=) c.681T= (p.Ser227=) c.894T= (p.Ser298=) c.807T= (p.Ser269=) c.*397T= (n.*397T=) c.909T= (p.Ser303=) c.591T= (p.Ser197=) c.393T= (p.Ser131=) c.*94T= (n.*94T=) n.964T= c.168T= (p.Ser56=) | |
2 | g.101412952A>C | CA347974338 | RFX8 | c.1020T>G (p.Ser340Arg) c.681T>G (p.Ser227Arg) c.894T>G (p.Ser298Arg) c.807T>G (p.Ser269Arg) c.*397T>G (n.*397T>G) c.909T>G (p.Ser303Arg) c.591T>G (p.Ser197Arg) c.393T>G (p.Ser131Arg) c.*94T>G (n.*94T>G) n.964T>G c.168T>G (p.Ser56Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101412952A>G | CA427793182 | RFX8 | c.1020T>C (p.Ser340=) c.681T>C (p.Ser227=) c.894T>C (p.Ser298=) c.807T>C (p.Ser269=) c.*397T>C (n.*397T>C) c.909T>C (p.Ser303=) c.591T>C (p.Ser197=) c.393T>C (p.Ser131=) c.*94T>C (n.*94T>C) n.964T>C c.168T>C (p.Ser56=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101412952A>T | CA347974339 | RFX8 | c.1020T>A (p.Ser340Arg) c.681T>A (p.Ser227Arg) c.894T>A (p.Ser298Arg) c.807T>A (p.Ser269Arg) c.*397T>A (n.*397T>A) c.909T>A (p.Ser303Arg) c.591T>A (p.Ser197Arg) c.393T>A (p.Ser131Arg) c.*94T>A (n.*94T>A) n.964T>A c.168T>A (p.Ser56Arg) | |
2 | g.101412953C>A | CA347974340 | RFX8 | c.1019G>T (p.Ser340Ile) c.680G>T (p.Ser227Ile) c.893G>T (p.Ser298Ile) c.806G>T (p.Ser269Ile) c.*396G>T (n.*396G>T) c.908G>T (p.Ser303Ile) c.590G>T (p.Ser197Ile) c.392G>T (p.Ser131Ile) c.*93G>T (n.*93G>T) n.963G>T c.167G>T (p.Ser56Ile) | |
2 | g.101412953C>G | CA347974341 | RFX8 | c.1019G>C (p.Ser340Thr) c.680G>C (p.Ser227Thr) c.893G>C (p.Ser298Thr) c.806G>C (p.Ser269Thr) c.*396G>C (n.*396G>C) c.908G>C (p.Ser303Thr) c.590G>C (p.Ser197Thr) c.392G>C (p.Ser131Thr) c.*93G>C (n.*93G>C) n.963G>C c.167G>C (p.Ser56Thr) | |
2 | g.101412953C>T | CA347974342 | RFX8 | c.1019G>A (p.Ser340Asn) c.680G>A (p.Ser227Asn) c.893G>A (p.Ser298Asn) c.806G>A (p.Ser269Asn) c.*396G>A (n.*396G>A) c.908G>A (p.Ser303Asn) c.590G>A (p.Ser197Asn) c.392G>A (p.Ser131Asn) c.*93G>A (n.*93G>A) n.963G>A c.167G>A (p.Ser56Asn) | gnomAD v4 |
2 | g.101412954T>A | CA347974344 | RFX8 | c.1018A>T (p.Ser340Cys) c.679A>T (p.Ser227Cys) c.892A>T (p.Ser298Cys) c.805A>T (p.Ser269Cys) c.*395A>T (n.*395A>T) c.907A>T (p.Ser303Cys) c.589A>T (p.Ser197Cys) c.391A>T (p.Ser131Cys) c.*92A>T (n.*92A>T) n.962A>T c.166A>T (p.Ser56Cys) | |
2 | g.101412954T>C | CA1806428 | RFX8 | c.1018A>G (p.Ser340Gly) c.679A>G (p.Ser227Gly) c.892A>G (p.Ser298Gly) c.805A>G (p.Ser269Gly) c.*395A>G (n.*395A>G) c.907A>G (p.Ser303Gly) c.589A>G (p.Ser197Gly) c.391A>G (p.Ser131Gly) c.*92A>G (n.*92A>G) n.962A>G c.166A>G (p.Ser56Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.101412954T>G | CA347974343 | RFX8 | c.1018A>C (p.Ser340Arg) c.679A>C (p.Ser227Arg) c.892A>C (p.Ser298Arg) c.805A>C (p.Ser269Arg) c.*395A>C (n.*395A>C) c.907A>C (p.Ser303Arg) c.589A>C (p.Ser197Arg) c.391A>C (p.Ser131Arg) c.*92A>C (n.*92A>C) n.962A>C c.166A>C (p.Ser56Arg) | |
2 | g.101412954T= | CA1274778580 | RFX8 | c.1018A= (p.Ser340=) c.679A= (p.Ser227=) c.892A= (p.Ser298=) c.805A= (p.Ser269=) c.*395A= (n.*395A=) c.907A= (p.Ser303=) c.589A= (p.Ser197=) c.391A= (p.Ser131=) c.*92A= (n.*92A=) n.962A= c.166A= (p.Ser56=) | |
2 | g.101412955C>A | CA427793196 | RFX8 | c.1017G>T (p.Arg339=) c.678G>T (p.Arg226=) c.891G>T (p.Arg297=) c.804G>T (p.Arg268=) c.*394G>T (n.*394G>T) c.906G>T (p.Arg302=) c.588G>T (p.Arg196=) c.390G>T (p.Arg130=) c.*91G>T (n.*91G>T) n.961G>T c.165G>T (p.Arg55=) | |
2 | g.101412955C>G | CA427793198 | RFX8 | c.1017G>C (p.Arg339=) c.678G>C (p.Arg226=) c.891G>C (p.Arg297=) c.804G>C (p.Arg268=) c.*394G>C (n.*394G>C) c.906G>C (p.Arg302=) c.588G>C (p.Arg196=) c.390G>C (p.Arg130=) c.*91G>C (n.*91G>C) n.961G>C c.165G>C (p.Arg55=) | |
2 | g.101412955C>T | CA427793200 | RFX8 | c.1017G>A (p.Arg339=) c.678G>A (p.Arg226=) c.891G>A (p.Arg297=) c.804G>A (p.Arg268=) c.*394G>A (n.*394G>A) c.906G>A (p.Arg302=) c.588G>A (p.Arg196=) c.390G>A (p.Arg130=) c.*91G>A (n.*91G>A) n.961G>A c.165G>A (p.Arg55=) | gnomAD v4 |
2 | g.101412956C>A | CA347974345 | RFX8 | c.1016G>T (p.Arg339Leu) c.677G>T (p.Arg226Leu) c.890G>T (p.Arg297Leu) c.803G>T (p.Arg268Leu) c.*393G>T (n.*393G>T) c.905G>T (p.Arg302Leu) c.587G>T (p.Arg196Leu) c.389G>T (p.Arg130Leu) c.*90G>T (n.*90G>T) n.960G>T c.164G>T (p.Arg55Leu) | dbSNP gnomAD v2 |
2 | g.101412956C= | CA1274778581 | RFX8 | c.1016G= (p.Arg339=) c.677G= (p.Arg226=) c.890G= (p.Arg297=) c.803G= (p.Arg268=) c.*393G= (n.*393G=) c.905G= (p.Arg302=) c.587G= (p.Arg196=) c.389G= (p.Arg130=) c.*90G= (n.*90G=) n.960G= c.164G= (p.Arg55=) | |
2 | g.101412956C>G | CA347974347 | RFX8 | c.1016G>C (p.Arg339Pro) c.677G>C (p.Arg226Pro) c.890G>C (p.Arg297Pro) c.803G>C (p.Arg268Pro) c.*393G>C (n.*393G>C) c.905G>C (p.Arg302Pro) c.587G>C (p.Arg196Pro) c.389G>C (p.Arg130Pro) c.*90G>C (n.*90G>C) n.960G>C c.164G>C (p.Arg55Pro) | |
2 | g.101412956C>T | CA347974346 | RFX8 | c.1016G>A (p.Arg339Gln) c.677G>A (p.Arg226Gln) c.890G>A (p.Arg297Gln) c.803G>A (p.Arg268Gln) c.*393G>A (n.*393G>A) c.905G>A (p.Arg302Gln) c.587G>A (p.Arg196Gln) c.389G>A (p.Arg130Gln) c.*90G>A (n.*90G>A) n.960G>A c.164G>A (p.Arg55Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.101412957G>A | CA1806429 | RFX8 | c.1015C>T (p.Arg339Trp) c.676C>T (p.Arg226Trp) c.889C>T (p.Arg297Trp) c.802C>T (p.Arg268Trp) c.*392C>T (n.*392C>T) c.904C>T (p.Arg302Trp) c.586C>T (p.Arg196Trp) c.388C>T (p.Arg130Trp) c.*89C>T (n.*89C>T) n.959C>T c.163C>T (p.Arg55Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.101412957G>C | CA347974348 | RFX8 | c.1015C>G (p.Arg339Gly) c.676C>G (p.Arg226Gly) c.889C>G (p.Arg297Gly) c.802C>G (p.Arg268Gly) c.*392C>G (n.*392C>G) c.904C>G (p.Arg302Gly) c.586C>G (p.Arg196Gly) c.388C>G (p.Arg130Gly) c.*89C>G (n.*89C>G) n.959C>G c.163C>G (p.Arg55Gly) | |
2 | g.101412957G= | CA1274778582 | RFX8 | c.1015C= (p.Arg339=) c.676C= (p.Arg226=) c.889C= (p.Arg297=) c.802C= (p.Arg268=) c.*392C= (n.*392C=) c.904C= (p.Arg302=) c.586C= (p.Arg196=) c.388C= (p.Arg130=) c.*89C= (n.*89C=) n.959C= c.163C= (p.Arg55=) | |
2 | g.101412957G>T | CA427793208 | RFX8 | c.1015C>A (p.Arg339=) c.676C>A (p.Arg226=) c.889C>A (p.Arg297=) c.802C>A (p.Arg268=) c.*392C>A (n.*392C>A) c.904C>A (p.Arg302=) c.586C>A (p.Arg196=) c.388C>A (p.Arg130=) c.*89C>A (n.*89C>A) n.959C>A c.163C>A (p.Arg55=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.101412958G>A | CA53230238 | RFX8 | c.1014C>T (p.Asp338=) c.675C>T (p.Asp225=) c.888C>T (p.Asp296=) c.801C>T (p.Asp267=) c.*391C>T (n.*391C>T) c.903C>T (p.Asp301=) c.585C>T (p.Asp195=) c.387C>T (p.Asp129=) c.*88C>T (n.*88C>T) n.958C>T c.162C>T (p.Asp54=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101412958G>C | CA347974349 | RFX8 | c.1014C>G (p.Asp338Glu) c.675C>G (p.Asp225Glu) c.888C>G (p.Asp296Glu) c.801C>G (p.Asp267Glu) c.*391C>G (n.*391C>G) c.903C>G (p.Asp301Glu) c.585C>G (p.Asp195Glu) c.387C>G (p.Asp129Glu) c.*88C>G (n.*88C>G) n.958C>G c.162C>G (p.Asp54Glu) | |
2 | g.101412958G= | CA1274778583 | RFX8 | c.1014C= (p.Asp338=) c.675C= (p.Asp225=) c.888C= (p.Asp296=) c.801C= (p.Asp267=) c.*391C= (n.*391C=) c.903C= (p.Asp301=) c.585C= (p.Asp195=) c.387C= (p.Asp129=) c.*88C= (n.*88C=) n.958C= c.162C= (p.Asp54=) | |
2 | g.101412958G>T | CA347974350 | RFX8 | c.1014C>A (p.Asp338Glu) c.675C>A (p.Asp225Glu) c.888C>A (p.Asp296Glu) c.801C>A (p.Asp267Glu) c.*391C>A (n.*391C>A) c.903C>A (p.Asp301Glu) c.585C>A (p.Asp195Glu) c.387C>A (p.Asp129Glu) c.*88C>A (n.*88C>A) n.958C>A c.162C>A (p.Asp54Glu) | COSMIC COSMIC |
2 | g.101412959T>A | CA347974351 | RFX8 | c.1013A>T (p.Asp338Val) c.674A>T (p.Asp225Val) c.887A>T (p.Asp296Val) c.800A>T (p.Asp267Val) c.*390A>T (n.*390A>T) c.902A>T (p.Asp301Val) c.584A>T (p.Asp195Val) c.386A>T (p.Asp129Val) c.*87A>T (n.*87A>T) n.957A>T c.161A>T (p.Asp54Val) | |
2 | g.101412959T>C | CA347974352 | RFX8 | c.1013A>G (p.Asp338Gly) c.674A>G (p.Asp225Gly) c.887A>G (p.Asp296Gly) c.800A>G (p.Asp267Gly) c.*390A>G (n.*390A>G) c.902A>G (p.Asp301Gly) c.584A>G (p.Asp195Gly) c.386A>G (p.Asp129Gly) c.*87A>G (n.*87A>G) n.957A>G c.161A>G (p.Asp54Gly) | |
2 | g.101412959T>G | CA347974353 | RFX8 | c.1013A>C (p.Asp338Ala) c.674A>C (p.Asp225Ala) c.887A>C (p.Asp296Ala) c.800A>C (p.Asp267Ala) c.*390A>C (n.*390A>C) c.902A>C (p.Asp301Ala) c.584A>C (p.Asp195Ala) c.386A>C (p.Asp129Ala) c.*87A>C (n.*87A>C) n.957A>C c.161A>C (p.Asp54Ala) | |
2 | g.101412960C>A | CA347974354 | RFX8 | c.1012G>T (p.Asp338Tyr) c.673G>T (p.Asp225Tyr) c.886G>T (p.Asp296Tyr) c.799G>T (p.Asp267Tyr) c.*389G>T (n.*389G>T) c.901G>T (p.Asp301Tyr) c.583G>T (p.Asp195Tyr) c.385G>T (p.Asp129Tyr) c.*86G>T (n.*86G>T) n.956G>T c.160G>T (p.Asp54Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101412960C= | CA1274778584 | RFX8 | c.1012G= (p.Asp338=) c.673G= (p.Asp225=) c.886G= (p.Asp296=) c.799G= (p.Asp267=) c.*389G= (n.*389G=) c.901G= (p.Asp301=) c.583G= (p.Asp195=) c.385G= (p.Asp129=) c.*86G= (n.*86G=) n.956G= c.160G= (p.Asp54=) | |
2 | g.101412960C>G | CA347974355 | RFX8 | c.1012G>C (p.Asp338His) c.673G>C (p.Asp225His) c.886G>C (p.Asp296His) c.799G>C (p.Asp267His) c.*389G>C (n.*389G>C) c.901G>C (p.Asp301His) c.583G>C (p.Asp195His) c.385G>C (p.Asp129His) c.*86G>C (n.*86G>C) n.956G>C c.160G>C (p.Asp54His) | |
2 | g.101412960C>T | CA347974356 | RFX8 | c.1012G>A (p.Asp338Asn) c.673G>A (p.Asp225Asn) c.886G>A (p.Asp296Asn) c.799G>A (p.Asp267Asn) c.*389G>A (n.*389G>A) c.901G>A (p.Asp301Asn) c.583G>A (p.Asp195Asn) c.385G>A (p.Asp129Asn) c.*86G>A (n.*86G>A) n.956G>A c.160G>A (p.Asp54Asn) | |
2 | g.101412961A= | CA1274778585 | RFX8 | c.1011T= (p.Ser337=) c.672T= (p.Ser224=) c.885T= (p.Ser295=) c.798T= (p.Ser266=) c.*388T= (n.*388T=) c.900T= (p.Ser300=) c.582T= (p.Ser194=) c.384T= (p.Ser128=) c.*85T= (n.*85T=) n.955T= c.159T= (p.Ser53=) | |
2 | g.101412961A>C | CA347974357 | RFX8 | c.1011T>G (p.Ser337Arg) c.672T>G (p.Ser224Arg) c.885T>G (p.Ser295Arg) c.798T>G (p.Ser266Arg) c.*388T>G (n.*388T>G) c.900T>G (p.Ser300Arg) c.582T>G (p.Ser194Arg) c.384T>G (p.Ser128Arg) c.*85T>G (n.*85T>G) n.955T>G c.159T>G (p.Ser53Arg) | |
2 | g.101412961A>G | CA427793223 | RFX8 | c.1011T>C (p.Ser337=) c.672T>C (p.Ser224=) c.885T>C (p.Ser295=) c.798T>C (p.Ser266=) c.*388T>C (n.*388T>C) c.900T>C (p.Ser300=) c.582T>C (p.Ser194=) c.384T>C (p.Ser128=) c.*85T>C (n.*85T>C) n.955T>C c.159T>C (p.Ser53=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101412961A>T | CA347974358 | RFX8 | c.1011T>A (p.Ser337Arg) c.672T>A (p.Ser224Arg) c.885T>A (p.Ser295Arg) c.798T>A (p.Ser266Arg) c.*388T>A (n.*388T>A) c.900T>A (p.Ser300Arg) c.582T>A (p.Ser194Arg) c.384T>A (p.Ser128Arg) c.*85T>A (n.*85T>A) n.955T>A c.159T>A (p.Ser53Arg) | |
2 | g.101412962C>A | CA347974361 | RFX8 | c.1010G>T (p.Ser337Ile) c.671G>T (p.Ser224Ile) c.884G>T (p.Ser295Ile) c.797G>T (p.Ser266Ile) c.*387G>T (n.*387G>T) c.899G>T (p.Ser300Ile) c.581G>T (p.Ser194Ile) c.383G>T (p.Ser128Ile) c.*84G>T (n.*84G>T) n.954G>T c.158G>T (p.Ser53Ile) | |
2 | g.101412962C>G | CA347974359 | RFX8 | c.1010G>C (p.Ser337Thr) c.671G>C (p.Ser224Thr) c.884G>C (p.Ser295Thr) c.797G>C (p.Ser266Thr) c.*387G>C (n.*387G>C) c.899G>C (p.Ser300Thr) c.581G>C (p.Ser194Thr) c.383G>C (p.Ser128Thr) c.*84G>C (n.*84G>C) n.954G>C c.158G>C (p.Ser53Thr) | |
2 | g.101412962C>T | CA347974360 | RFX8 | c.1010G>A (p.Ser337Asn) c.671G>A (p.Ser224Asn) c.884G>A (p.Ser295Asn) c.797G>A (p.Ser266Asn) c.*387G>A (n.*387G>A) c.899G>A (p.Ser300Asn) c.581G>A (p.Ser194Asn) c.383G>A (p.Ser128Asn) c.*84G>A (n.*84G>A) n.954G>A c.158G>A (p.Ser53Asn) | gnomAD v4 |
2 | g.101412963T>A | CA347974362 | RFX8 | c.1009A>T (p.Ser337Cys) c.670A>T (p.Ser224Cys) c.883A>T (p.Ser295Cys) c.796A>T (p.Ser266Cys) c.*386A>T (n.*386A>T) c.898A>T (p.Ser300Cys) c.580A>T (p.Ser194Cys) c.382A>T (p.Ser128Cys) c.*83A>T (n.*83A>T) n.953A>T c.157A>T (p.Ser53Cys) | |
2 | g.101412963T>C | CA347974363 | RFX8 | c.1009A>G (p.Ser337Gly) c.670A>G (p.Ser224Gly) c.883A>G (p.Ser295Gly) c.796A>G (p.Ser266Gly) c.*386A>G (n.*386A>G) c.898A>G (p.Ser300Gly) c.580A>G (p.Ser194Gly) c.382A>G (p.Ser128Gly) c.*83A>G (n.*83A>G) n.953A>G c.157A>G (p.Ser53Gly) | |
2 | g.101412963T>G | CA347974364 | RFX8 | c.1009A>C (p.Ser337Arg) c.670A>C (p.Ser224Arg) c.883A>C (p.Ser295Arg) c.796A>C (p.Ser266Arg) c.*386A>C (n.*386A>C) c.898A>C (p.Ser300Arg) c.580A>C (p.Ser194Arg) c.382A>C (p.Ser128Arg) c.*83A>C (n.*83A>C) n.953A>C c.157A>C (p.Ser53Arg) | |
2 | g.101412964T>A | CA427793235 | RFX8 | c.1008A>T (p.Ala336=) c.669A>T (p.Ala223=) c.882A>T (p.Ala294=) c.795A>T (p.Ala265=) c.*385A>T (n.*385A>T) c.897A>T (p.Ala299=) c.579A>T (p.Ala193=) c.381A>T (p.Ala127=) c.*82A>T (n.*82A>T) n.952A>T c.156A>T (p.Ala52=) | |
2 | g.101412964T>C | CA427793238 | RFX8 | c.1008A>G (p.Ala336=) c.669A>G (p.Ala223=) c.882A>G (p.Ala294=) c.795A>G (p.Ala265=) c.*385A>G (n.*385A>G) c.897A>G (p.Ala299=) c.579A>G (p.Ala193=) c.381A>G (p.Ala127=) c.*82A>G (n.*82A>G) n.952A>G c.156A>G (p.Ala52=) | gnomAD v4 |
2 | g.101412964T>G | CA427793239 | RFX8 | c.1008A>C (p.Ala336=) c.669A>C (p.Ala223=) c.882A>C (p.Ala294=) c.795A>C (p.Ala265=) c.*385A>C (n.*385A>C) c.897A>C (p.Ala299=) c.579A>C (p.Ala193=) c.381A>C (p.Ala127=) c.*82A>C (n.*82A>C) n.952A>C c.156A>C (p.Ala52=) | |
2 | g.101412965del | CA2660437695 | RFX8 | c.1007del (p.Ala336GlufsTer16) c.668del (p.Ala223GlufsTer16) c.881del (p.Ala294GlufsTer16) c.794del (p.Ala265GlufsTer16) c.*384del (n.*384del) c.896del (p.Ala299GlufsTer16) c.578del (p.Ala193GlufsTer16) c.380del (p.Ala127GlufsTer16) c.*81del (n.*81del) n.951del c.155del (p.Ala52GlufsTer16) | gnomAD v4 |
2 | g.101412965G>A | CA347974365 | RFX8 | c.1007C>T (p.Ala336Val) c.668C>T (p.Ala223Val) c.881C>T (p.Ala294Val) c.794C>T (p.Ala265Val) c.*384C>T (n.*384C>T) c.896C>T (p.Ala299Val) c.578C>T (p.Ala193Val) c.380C>T (p.Ala127Val) c.*81C>T (n.*81C>T) n.951C>T c.155C>T (p.Ala52Val) | |
2 | g.101412965G>C | CA347974366 | RFX8 | c.1007C>G (p.Ala336Gly) c.668C>G (p.Ala223Gly) c.881C>G (p.Ala294Gly) c.794C>G (p.Ala265Gly) c.*384C>G (n.*384C>G) c.896C>G (p.Ala299Gly) c.578C>G (p.Ala193Gly) c.380C>G (p.Ala127Gly) c.*81C>G (n.*81C>G) n.951C>G c.155C>G (p.Ala52Gly) | |
2 | g.101412965G>T | CA347974367 | RFX8 | c.1007C>A (p.Ala336Glu) c.668C>A (p.Ala223Glu) c.881C>A (p.Ala294Glu) c.794C>A (p.Ala265Glu) c.*384C>A (n.*384C>A) c.896C>A (p.Ala299Glu) c.578C>A (p.Ala193Glu) c.380C>A (p.Ala127Glu) c.*81C>A (n.*81C>A) n.951C>A c.155C>A (p.Ala52Glu) | |
2 | g.101412966C>A | CA347974368 | RFX8 | c.1006G>T (p.Ala336Ser) c.667G>T (p.Ala223Ser) c.880G>T (p.Ala294Ser) c.793G>T (p.Ala265Ser) c.*383G>T (n.*383G>T) c.895G>T (p.Ala299Ser) c.577G>T (p.Ala193Ser) c.379G>T (p.Ala127Ser) c.*80G>T (n.*80G>T) n.950G>T c.154G>T (p.Ala52Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.101412966C= | CA1274778586 | RFX8 | c.1006G= (p.Ala336=) c.667G= (p.Ala223=) c.880G= (p.Ala294=) c.793G= (p.Ala265=) c.*383G= (n.*383G=) c.895G= (p.Ala299=) c.577G= (p.Ala193=) c.379G= (p.Ala127=) c.*80G= (n.*80G=) n.950G= c.154G= (p.Ala52=) | |
2 | g.101412966C>G | CA347974369 | RFX8 | c.1006G>C (p.Ala336Pro) c.667G>C (p.Ala223Pro) c.880G>C (p.Ala294Pro) c.793G>C (p.Ala265Pro) c.*383G>C (n.*383G>C) c.895G>C (p.Ala299Pro) c.577G>C (p.Ala193Pro) c.379G>C (p.Ala127Pro) c.*80G>C (n.*80G>C) n.950G>C c.154G>C (p.Ala52Pro) | |
2 | g.101412966C>T | CA347974370 | RFX8 | c.1006G>A (p.Ala336Thr) c.667G>A (p.Ala223Thr) c.880G>A (p.Ala294Thr) c.793G>A (p.Ala265Thr) c.*383G>A (n.*383G>A) c.895G>A (p.Ala299Thr) c.577G>A (p.Ala193Thr) c.379G>A (p.Ala127Thr) c.*80G>A (n.*80G>A) n.950G>A c.154G>A (p.Ala52Thr) | |
2 | g.101412967C>A | CA427793248 | RFX8 | c.1005G>T (p.Leu335=) c.666G>T (p.Leu222=) c.879G>T (p.Leu293=) c.792G>T (p.Leu264=) c.*382G>T (n.*382G>T) c.894G>T (p.Leu298=) c.576G>T (p.Leu192=) c.378G>T (p.Leu126=) c.*79G>T (n.*79G>T) n.949G>T c.153G>T (p.Leu51=) | |
2 | g.101412967C>G | CA427793251 | RFX8 | c.1005G>C (p.Leu335=) c.666G>C (p.Leu222=) c.879G>C (p.Leu293=) c.792G>C (p.Leu264=) c.*382G>C (n.*382G>C) c.894G>C (p.Leu298=) c.576G>C (p.Leu192=) c.378G>C (p.Leu126=) c.*79G>C (n.*79G>C) n.949G>C c.153G>C (p.Leu51=) | |
2 | g.101412967C>T | CA427793253 | RFX8 | c.1005G>A (p.Leu335=) c.666G>A (p.Leu222=) c.879G>A (p.Leu293=) c.792G>A (p.Leu264=) c.*382G>A (n.*382G>A) c.894G>A (p.Leu298=) c.576G>A (p.Leu192=) c.378G>A (p.Leu126=) c.*79G>A (n.*79G>A) n.949G>A c.153G>A (p.Leu51=) | |
2 | g.101412968A= | CA1274778587 | RFX8 | c.1004T= (p.Leu335=) c.665T= (p.Leu222=) c.878T= (p.Leu293=) c.791T= (p.Leu264=) c.*381T= (n.*381T=) c.893T= (p.Leu298=) c.575T= (p.Leu192=) c.377T= (p.Leu126=) c.*78T= (n.*78T=) n.948T= c.152T= (p.Leu51=) | |
2 | g.101412968A>C | CA53230240 | RFX8 | c.1004T>G (p.Leu335Arg) c.665T>G (p.Leu222Arg) c.878T>G (p.Leu293Arg) c.791T>G (p.Leu264Arg) c.*381T>G (n.*381T>G) c.893T>G (p.Leu298Arg) c.575T>G (p.Leu192Arg) c.377T>G (p.Leu126Arg) c.*78T>G (n.*78T>G) n.948T>G c.152T>G (p.Leu51Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.101412968A>G | CA347974371 | RFX8 | c.1004T>C (p.Leu335Pro) c.665T>C (p.Leu222Pro) c.878T>C (p.Leu293Pro) c.791T>C (p.Leu264Pro) c.*381T>C (n.*381T>C) c.893T>C (p.Leu298Pro) c.575T>C (p.Leu192Pro) c.377T>C (p.Leu126Pro) c.*78T>C (n.*78T>C) n.948T>C c.152T>C (p.Leu51Pro) | |
2 | g.101412968A>T | CA347974372 | RFX8 | c.1004T>A (p.Leu335Gln) c.665T>A (p.Leu222Gln) c.878T>A (p.Leu293Gln) c.791T>A (p.Leu264Gln) c.*381T>A (n.*381T>A) c.893T>A (p.Leu298Gln) c.575T>A (p.Leu192Gln) c.377T>A (p.Leu126Gln) c.*78T>A (n.*78T>A) n.948T>A c.152T>A (p.Leu51Gln) | |
2 | g.101412969G>A | CA427793260 | RFX8 | c.1003C>T (p.Leu335=) c.664C>T (p.Leu222=) c.877C>T (p.Leu293=) c.790C>T (p.Leu264=) c.*380C>T (n.*380C>T) c.892C>T (p.Leu298=) c.574C>T (p.Leu192=) c.376C>T (p.Leu126=) c.*77C>T (n.*77C>T) n.947C>T c.151C>T (p.Leu51=) | |
2 | g.101412969G>C | CA347974373 | RFX8 | c.1003C>G (p.Leu335Val) c.664C>G (p.Leu222Val) c.877C>G (p.Leu293Val) c.790C>G (p.Leu264Val) c.*380C>G (n.*380C>G) c.892C>G (p.Leu298Val) c.574C>G (p.Leu192Val) c.376C>G (p.Leu126Val) c.*77C>G (n.*77C>G) n.947C>G c.151C>G (p.Leu51Val) | |
2 | g.101412969G>T | CA347974374 | RFX8 | c.1003C>A (p.Leu335Met) c.664C>A (p.Leu222Met) c.877C>A (p.Leu293Met) c.790C>A (p.Leu264Met) c.*380C>A (n.*380C>A) c.892C>A (p.Leu298Met) c.574C>A (p.Leu192Met) c.376C>A (p.Leu126Met) c.*77C>A (n.*77C>A) n.947C>A c.151C>A (p.Leu51Met) | gnomAD v4 |
2 | g.101412970G>A | CA427793264 | RFX8 | c.1002C>T (p.Ala334=) c.663C>T (p.Ala221=) c.876C>T (p.Ala292=) c.789C>T (p.Ala263=) c.*379C>T (n.*379C>T) c.891C>T (p.Ala297=) c.573C>T (p.Ala191=) c.375C>T (p.Ala125=) c.*76C>T (n.*76C>T) n.946C>T c.150C>T (p.Ala50=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101412970G>C | CA427793267 | RFX8 | c.1002C>G (p.Ala334=) c.663C>G (p.Ala221=) c.876C>G (p.Ala292=) c.789C>G (p.Ala263=) c.*379C>G (n.*379C>G) c.891C>G (p.Ala297=) c.573C>G (p.Ala191=) c.375C>G (p.Ala125=) c.*76C>G (n.*76C>G) n.946C>G c.150C>G (p.Ala50=) | |
2 | g.101412970G= | CA1274778588 | RFX8 | c.1002C= (p.Ala334=) c.663C= (p.Ala221=) c.876C= (p.Ala292=) c.789C= (p.Ala263=) c.*379C= (n.*379C=) c.891C= (p.Ala297=) c.573C= (p.Ala191=) c.375C= (p.Ala125=) c.*76C= (n.*76C=) n.946C= c.150C= (p.Ala50=) | |
2 | g.101412970G>T | CA427793269 | RFX8 | c.1002C>A (p.Ala334=) c.663C>A (p.Ala221=) c.876C>A (p.Ala292=) c.789C>A (p.Ala263=) c.*379C>A (n.*379C>A) c.891C>A (p.Ala297=) c.573C>A (p.Ala191=) c.375C>A (p.Ala125=) c.*76C>A (n.*76C>A) n.946C>A c.150C>A (p.Ala50=) | |
2 | g.101412971G>A | CA347974375 | RFX8 | c.1001C>T (p.Ala334Val) c.662C>T (p.Ala221Val) c.875C>T (p.Ala292Val) c.788C>T (p.Ala263Val) c.*378C>T (n.*378C>T) c.890C>T (p.Ala297Val) c.572C>T (p.Ala191Val) c.374C>T (p.Ala125Val) c.*75C>T (n.*75C>T) n.945C>T c.149C>T (p.Ala50Val) | gnomAD v4 |
2 | g.101412971G>C | CA347974376 | RFX8 | c.1001C>G (p.Ala334Gly) c.662C>G (p.Ala221Gly) c.875C>G (p.Ala292Gly) c.788C>G (p.Ala263Gly) c.*378C>G (n.*378C>G) c.890C>G (p.Ala297Gly) c.572C>G (p.Ala191Gly) c.374C>G (p.Ala125Gly) c.*75C>G (n.*75C>G) n.945C>G c.149C>G (p.Ala50Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101412971G= | CA1274778589 | RFX8 | c.1001C= (p.Ala334=) c.662C= (p.Ala221=) c.875C= (p.Ala292=) c.788C= (p.Ala263=) c.*378C= (n.*378C=) c.890C= (p.Ala297=) c.572C= (p.Ala191=) c.374C= (p.Ala125=) c.*75C= (n.*75C=) n.945C= c.149C= (p.Ala50=) | |
2 | g.101412971G>T | CA347974377 | RFX8 | c.1001C>A (p.Ala334Asp) c.662C>A (p.Ala221Asp) c.875C>A (p.Ala292Asp) c.788C>A (p.Ala263Asp) c.*378C>A (n.*378C>A) c.890C>A (p.Ala297Asp) c.572C>A (p.Ala191Asp) c.374C>A (p.Ala125Asp) c.*75C>A (n.*75C>A) n.945C>A c.149C>A (p.Ala50Asp) | gnomAD v4 |
2 | g.101412972C>A | CA347974378 | RFX8 | c.1000G>T (p.Ala334Ser) c.661G>T (p.Ala221Ser) c.874G>T (p.Ala292Ser) c.787G>T (p.Ala263Ser) c.*377G>T (n.*377G>T) c.889G>T (p.Ala297Ser) c.571G>T (p.Ala191Ser) c.373G>T (p.Ala125Ser) c.*74G>T (n.*74G>T) n.944G>T c.148G>T (p.Ala50Ser) | |
2 | g.101412972C= | CA1274778590 | RFX8 | c.1000G= (p.Ala334=) c.661G= (p.Ala221=) c.874G= (p.Ala292=) c.787G= (p.Ala263=) c.*377G= (n.*377G=) c.889G= (p.Ala297=) c.571G= (p.Ala191=) c.373G= (p.Ala125=) c.*74G= (n.*74G=) n.944G= c.148G= (p.Ala50=) | |
2 | g.101412972C>G | CA347974379 | RFX8 | c.1000G>C (p.Ala334Pro) c.661G>C (p.Ala221Pro) c.874G>C (p.Ala292Pro) c.787G>C (p.Ala263Pro) c.*377G>C (n.*377G>C) c.889G>C (p.Ala297Pro) c.571G>C (p.Ala191Pro) c.373G>C (p.Ala125Pro) c.*74G>C (n.*74G>C) n.944G>C c.148G>C (p.Ala50Pro) | |
2 | g.101412972C>T | CA347974380 | RFX8 | c.1000G>A (p.Ala334Thr) c.661G>A (p.Ala221Thr) c.874G>A (p.Ala292Thr) c.787G>A (p.Ala263Thr) c.*377G>A (n.*377G>A) c.889G>A (p.Ala297Thr) c.571G>A (p.Ala191Thr) c.373G>A (p.Ala125Thr) c.*74G>A (n.*74G>A) n.944G>A c.148G>A (p.Ala50Thr) | dbSNP gnomAD v4 |
2 | g.101412973T>A | CA347974381 | RFX8 | c.999A>T (p.Lys333Asn) c.660A>T (p.Lys220Asn) c.873A>T (p.Lys291Asn) c.786A>T (p.Lys262Asn) c.*376A>T (n.*376A>T) c.888A>T (p.Lys296Asn) c.570A>T (p.Lys190Asn) c.372A>T (p.Lys124Asn) c.*73A>T (n.*73A>T) n.943A>T c.147A>T (p.Lys49Asn) | |
2 | g.101412973T>C | CA427793282 | RFX8 | c.999A>G (p.Lys333=) c.660A>G (p.Lys220=) c.873A>G (p.Lys291=) c.786A>G (p.Lys262=) c.*376A>G (n.*376A>G) c.888A>G (p.Lys296=) c.570A>G (p.Lys190=) c.372A>G (p.Lys124=) c.*73A>G (n.*73A>G) n.943A>G c.147A>G (p.Lys49=) | |
2 | g.101412973T>G | CA347974382 | RFX8 | c.999A>C (p.Lys333Asn) c.660A>C (p.Lys220Asn) c.873A>C (p.Lys291Asn) c.786A>C (p.Lys262Asn) c.*376A>C (n.*376A>C) c.888A>C (p.Lys296Asn) c.570A>C (p.Lys190Asn) c.372A>C (p.Lys124Asn) c.*73A>C (n.*73A>C) n.943A>C c.147A>C (p.Lys49Asn) | |
2 | g.101412974T>A | CA347974383 | RFX8 | c.998A>T (p.Lys333Ile) c.659A>T (p.Lys220Ile) c.872A>T (p.Lys291Ile) c.785A>T (p.Lys262Ile) c.*375A>T (n.*375A>T) c.887A>T (p.Lys296Ile) c.569A>T (p.Lys190Ile) c.371A>T (p.Lys124Ile) c.*72A>T (n.*72A>T) n.942A>T c.146A>T (p.Lys49Ile) | gnomAD v4 |
2 | g.101412974T>C | CA347974384 | RFX8 | c.998A>G (p.Lys333Arg) c.659A>G (p.Lys220Arg) c.872A>G (p.Lys291Arg) c.785A>G (p.Lys262Arg) c.*375A>G (n.*375A>G) c.887A>G (p.Lys296Arg) c.569A>G (p.Lys190Arg) c.371A>G (p.Lys124Arg) c.*72A>G (n.*72A>G) n.942A>G c.146A>G (p.Lys49Arg) | |
2 | g.101412974T>G | CA347974385 | RFX8 | c.998A>C (p.Lys333Thr) c.659A>C (p.Lys220Thr) c.872A>C (p.Lys291Thr) c.785A>C (p.Lys262Thr) c.*375A>C (n.*375A>C) c.887A>C (p.Lys296Thr) c.569A>C (p.Lys190Thr) c.371A>C (p.Lys124Thr) c.*72A>C (n.*72A>C) n.942A>C c.146A>C (p.Lys49Thr) | |
2 | g.101412975T>A | CA347974386 | RFX8 | c.997A>T (p.Lys333Ter) c.658A>T (p.Lys220Ter) c.871A>T (p.Lys291Ter) c.784A>T (p.Lys262Ter) c.*374A>T (n.*374A>T) c.886A>T (p.Lys296Ter) c.568A>T (p.Lys190Ter) c.370A>T (p.Lys124Ter) c.*71A>T (n.*71A>T) n.941A>T c.145A>T (p.Lys49Ter) | |
2 | g.101412975T>C | CA347974387 | RFX8 | c.997A>G (p.Lys333Glu) c.658A>G (p.Lys220Glu) c.871A>G (p.Lys291Glu) c.784A>G (p.Lys262Glu) c.*374A>G (n.*374A>G) c.886A>G (p.Lys296Glu) c.568A>G (p.Lys190Glu) c.370A>G (p.Lys124Glu) c.*71A>G (n.*71A>G) n.941A>G c.145A>G (p.Lys49Glu) | |
2 | g.101412975T>G | CA347974388 | RFX8 | c.997A>C (p.Lys333Gln) c.658A>C (p.Lys220Gln) c.871A>C (p.Lys291Gln) c.784A>C (p.Lys262Gln) c.*374A>C (n.*374A>C) c.886A>C (p.Lys296Gln) c.568A>C (p.Lys190Gln) c.370A>C (p.Lys124Gln) c.*71A>C (n.*71A>C) n.941A>C c.145A>C (p.Lys49Gln) | |
2 | g.101412976C>A | CA347974389 | RFX8 | c.996G>T (p.Lys332Asn) c.657G>T (p.Lys219Asn) c.870G>T (p.Lys290Asn) c.783G>T (p.Lys261Asn) c.*373G>T (n.*373G>T) c.885G>T (p.Lys295Asn) c.567G>T (p.Lys189Asn) c.369G>T (p.Lys123Asn) c.*70G>T (n.*70G>T) n.940G>T c.144G>T (p.Lys48Asn) | |
2 | g.101412976C= | CA1274778591 | RFX8 | c.996G= (p.Lys332=) c.657G= (p.Lys219=) c.870G= (p.Lys290=) c.783G= (p.Lys261=) c.*373G= (n.*373G=) c.885G= (p.Lys295=) c.567G= (p.Lys189=) c.369G= (p.Lys123=) c.*70G= (n.*70G=) n.940G= c.144G= (p.Lys48=) | |
2 | g.101412976C>G | CA347974390 | RFX8 | c.996G>C (p.Lys332Asn) c.657G>C (p.Lys219Asn) c.870G>C (p.Lys290Asn) c.783G>C (p.Lys261Asn) c.*373G>C (n.*373G>C) c.885G>C (p.Lys295Asn) c.567G>C (p.Lys189Asn) c.369G>C (p.Lys123Asn) c.*70G>C (n.*70G>C) n.940G>C c.144G>C (p.Lys48Asn) | |
2 | g.101412976C>T | CA427793295 | RFX8 | c.996G>A (p.Lys332=) c.657G>A (p.Lys219=) c.870G>A (p.Lys290=) c.783G>A (p.Lys261=) c.*373G>A (n.*373G>A) c.885G>A (p.Lys295=) c.567G>A (p.Lys189=) c.369G>A (p.Lys123=) c.*70G>A (n.*70G>A) n.940G>A c.144G>A (p.Lys48=) | dbSNP gnomAD v2 |
2 | g.101412977T>A | CA347974391 | RFX8 | c.995A>T (p.Lys332Met) c.656A>T (p.Lys219Met) c.869A>T (p.Lys290Met) c.782A>T (p.Lys261Met) c.*372A>T (n.*372A>T) c.884A>T (p.Lys295Met) c.566A>T (p.Lys189Met) c.368A>T (p.Lys123Met) c.*69A>T (n.*69A>T) n.939A>T c.143A>T (p.Lys48Met) | |
2 | g.101412977T>C | CA347974392 | RFX8 | c.995A>G (p.Lys332Arg) c.656A>G (p.Lys219Arg) c.869A>G (p.Lys290Arg) c.782A>G (p.Lys261Arg) c.*372A>G (n.*372A>G) c.884A>G (p.Lys295Arg) c.566A>G (p.Lys189Arg) c.368A>G (p.Lys123Arg) c.*69A>G (n.*69A>G) n.939A>G c.143A>G (p.Lys48Arg) | |
2 | g.101412977T>G | CA347974393 | RFX8 | c.995A>C (p.Lys332Thr) c.656A>C (p.Lys219Thr) c.869A>C (p.Lys290Thr) c.782A>C (p.Lys261Thr) c.*372A>C (n.*372A>C) c.884A>C (p.Lys295Thr) c.566A>C (p.Lys189Thr) c.368A>C (p.Lys123Thr) c.*69A>C (n.*69A>C) n.939A>C c.143A>C (p.Lys48Thr) | |
2 | g.101412978T>A | CA347974394 | RFX8 | c.994A>T (p.Lys332Ter) c.655A>T (p.Lys219Ter) c.868A>T (p.Lys290Ter) c.781A>T (p.Lys261Ter) c.*371A>T (n.*371A>T) c.883A>T (p.Lys295Ter) c.565A>T (p.Lys189Ter) c.367A>T (p.Lys123Ter) c.*68A>T (n.*68A>T) n.938A>T c.142A>T (p.Lys48Ter) | |
2 | g.101412978T>C | CA347974395 | RFX8 | c.994A>G (p.Lys332Glu) c.655A>G (p.Lys219Glu) c.868A>G (p.Lys290Glu) c.781A>G (p.Lys261Glu) c.*371A>G (n.*371A>G) c.883A>G (p.Lys295Glu) c.565A>G (p.Lys189Glu) c.367A>G (p.Lys123Glu) c.*68A>G (n.*68A>G) n.938A>G c.142A>G (p.Lys48Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101412978T>G | CA347974396 | RFX8 | c.994A>C (p.Lys332Gln) c.655A>C (p.Lys219Gln) c.868A>C (p.Lys290Gln) c.781A>C (p.Lys261Gln) c.*371A>C (n.*371A>C) c.883A>C (p.Lys295Gln) c.565A>C (p.Lys189Gln) c.367A>C (p.Lys123Gln) c.*68A>C (n.*68A>C) n.938A>C c.142A>C (p.Lys48Gln) | |
2 | g.101412978T= | CA1274778592 | RFX8 | c.994A= (p.Lys332=) c.655A= (p.Lys219=) c.868A= (p.Lys290=) c.781A= (p.Lys261=) c.*371A= (n.*371A=) c.883A= (p.Lys295=) c.565A= (p.Lys189=) c.367A= (p.Lys123=) c.*68A= (n.*68A=) n.938A= c.142A= (p.Lys48=) | |
2 | g.101412979A>C | CA427793307 | RFX8 | c.993T>G (p.Ser331=) c.654T>G (p.Ser218=) c.867T>G (p.Ser289=) c.780T>G (p.Ser260=) c.*370T>G (n.*370T>G) c.882T>G (p.Ser294=) c.564T>G (p.Ser188=) c.366T>G (p.Ser122=) c.*67T>G (n.*67T>G) n.937T>G c.141T>G (p.Ser47=) | |
2 | g.101412979A>G | CA427793310 | RFX8 | c.993T>C (p.Ser331=) c.654T>C (p.Ser218=) c.867T>C (p.Ser289=) c.780T>C (p.Ser260=) c.*370T>C (n.*370T>C) c.882T>C (p.Ser294=) c.564T>C (p.Ser188=) c.366T>C (p.Ser122=) c.*67T>C (n.*67T>C) n.937T>C c.141T>C (p.Ser47=) | |
2 | g.101412979A>T | CA427793309 | RFX8 | c.993T>A (p.Ser331=) c.654T>A (p.Ser218=) c.867T>A (p.Ser289=) c.780T>A (p.Ser260=) c.*370T>A (n.*370T>A) c.882T>A (p.Ser294=) c.564T>A (p.Ser188=) c.366T>A (p.Ser122=) c.*67T>A (n.*67T>A) n.937T>A c.141T>A (p.Ser47=) | gnomAD v4 |
2 | g.101412980G>A | CA347974397 | RFX8 | c.992C>T (p.Ser331Phe) c.653C>T (p.Ser218Phe) c.866C>T (p.Ser289Phe) c.779C>T (p.Ser260Phe) c.*369C>T (n.*369C>T) c.881C>T (p.Ser294Phe) c.563C>T (p.Ser188Phe) c.365C>T (p.Ser122Phe) c.*66C>T (n.*66C>T) n.936C>T c.140C>T (p.Ser47Phe) | |
2 | g.101412980G>C | CA347974398 | RFX8 | c.992C>G (p.Ser331Cys) c.653C>G (p.Ser218Cys) c.866C>G (p.Ser289Cys) c.779C>G (p.Ser260Cys) c.*369C>G (n.*369C>G) c.881C>G (p.Ser294Cys) c.563C>G (p.Ser188Cys) c.365C>G (p.Ser122Cys) c.*66C>G (n.*66C>G) n.936C>G c.140C>G (p.Ser47Cys) | |
2 | g.101412980G>T | CA347974399 | RFX8 | c.992C>A (p.Ser331Tyr) c.653C>A (p.Ser218Tyr) c.866C>A (p.Ser289Tyr) c.779C>A (p.Ser260Tyr) c.*369C>A (n.*369C>A) c.881C>A (p.Ser294Tyr) c.563C>A (p.Ser188Tyr) c.365C>A (p.Ser122Tyr) c.*66C>A (n.*66C>A) n.936C>A c.140C>A (p.Ser47Tyr) | |
2 | g.101412981A>C | CA347974400 | RFX8 | c.991T>G (p.Ser331Ala) c.652T>G (p.Ser218Ala) c.865T>G (p.Ser289Ala) c.778T>G (p.Ser260Ala) c.*368T>G (n.*368T>G) c.880T>G (p.Ser294Ala) c.562T>G (p.Ser188Ala) c.364T>G (p.Ser122Ala) c.*65T>G (n.*65T>G) n.935T>G c.139T>G (p.Ser47Ala) | |
2 | g.101412981A>G | CA347974401 | RFX8 | c.991T>C (p.Ser331Pro) c.652T>C (p.Ser218Pro) c.865T>C (p.Ser289Pro) c.778T>C (p.Ser260Pro) c.*368T>C (n.*368T>C) c.880T>C (p.Ser294Pro) c.562T>C (p.Ser188Pro) c.364T>C (p.Ser122Pro) c.*65T>C (n.*65T>C) n.935T>C c.139T>C (p.Ser47Pro) | |
2 | g.101412981A>T | CA347974402 | RFX8 | c.991T>A (p.Ser331Thr) c.652T>A (p.Ser218Thr) c.865T>A (p.Ser289Thr) c.778T>A (p.Ser260Thr) c.*368T>A (n.*368T>A) c.880T>A (p.Ser294Thr) c.562T>A (p.Ser188Thr) c.364T>A (p.Ser122Thr) c.*65T>A (n.*65T>A) n.935T>A c.139T>A (p.Ser47Thr) | |
2 | g.101412982A>C | CA427793323 | RFX8 | c.990T>G (p.Thr330=) c.651T>G (p.Thr217=) c.864T>G (p.Thr288=) c.777T>G (p.Thr259=) c.*367T>G (n.*367T>G) c.879T>G (p.Thr293=) c.561T>G (p.Thr187=) c.363T>G (p.Thr121=) c.*64T>G (n.*64T>G) n.934T>G c.138T>G (p.Thr46=) | gnomAD v4 |
2 | g.101412982A>G | CA427793326 | RFX8 | c.990T>C (p.Thr330=) c.651T>C (p.Thr217=) c.864T>C (p.Thr288=) c.777T>C (p.Thr259=) c.*367T>C (n.*367T>C) c.879T>C (p.Thr293=) c.561T>C (p.Thr187=) c.363T>C (p.Thr121=) c.*64T>C (n.*64T>C) n.934T>C c.138T>C (p.Thr46=) | gnomAD v4 |
2 | g.101412982A>T | CA427793328 | RFX8 | c.990T>A (p.Thr330=) c.651T>A (p.Thr217=) c.864T>A (p.Thr288=) c.777T>A (p.Thr259=) c.*367T>A (n.*367T>A) c.879T>A (p.Thr293=) c.561T>A (p.Thr187=) c.363T>A (p.Thr121=) c.*64T>A (n.*64T>A) n.934T>A c.138T>A (p.Thr46=) | |
2 | g.101412982_101412984delinsAGT | CA1274778593 | RFX8 | c.988_990delinsACT (p.Thr330=) c.649_651delinsACT (p.Thr217=) c.862_864delinsACT (p.Thr288=) c.775_777delinsACT (p.Thr259=) c.*365_*367delinsACT (n.*365_*367delinsACT) c.877_879delinsACT (p.Thr293=) c.559_561delinsACT (p.Thr187=) c.361_363delinsACT (p.Thr121=) c.*62_*64delinsACT (n.*62_*64delinsACT) n.932_934delinsACT c.136_138delinsACT (p.Thr46=) | |
2 | g.101412983G>A | CA347974405 | RFX8 | c.989C>T (p.Thr330Ile) c.650C>T (p.Thr217Ile) c.863C>T (p.Thr288Ile) c.776C>T (p.Thr259Ile) c.*366C>T (n.*366C>T) c.878C>T (p.Thr293Ile) c.560C>T (p.Thr187Ile) c.362C>T (p.Thr121Ile) c.*63C>T (n.*63C>T) n.933C>T c.137C>T (p.Thr46Ile) | |
2 | g.101412983G>C | CA347974404 | RFX8 | c.989C>G (p.Thr330Ser) c.650C>G (p.Thr217Ser) c.863C>G (p.Thr288Ser) c.776C>G (p.Thr259Ser) c.*366C>G (n.*366C>G) c.878C>G (p.Thr293Ser) c.560C>G (p.Thr187Ser) c.362C>G (p.Thr121Ser) c.*63C>G (n.*63C>G) n.933C>G c.137C>G (p.Thr46Ser) | |
2 | g.101412983G>T | CA347974403 | RFX8 | c.989C>A (p.Thr330Asn) c.650C>A (p.Thr217Asn) c.863C>A (p.Thr288Asn) c.776C>A (p.Thr259Asn) c.*366C>A (n.*366C>A) c.878C>A (p.Thr293Asn) c.560C>A (p.Thr187Asn) c.362C>A (p.Thr121Asn) c.*63C>A (n.*63C>A) n.933C>A c.137C>A (p.Thr46Asn) | |
2 | g.101412983_101412984del | CA535107060 | RFX8 | c.988_989del (p.Thr330PhefsTer2) c.649_650del (p.Thr217PhefsTer2) c.862_863del (p.Thr288PhefsTer2) c.775_776del (p.Thr259PhefsTer2) c.*365_*366del (n.*365_*366del) c.877_878del (p.Thr293PhefsTer2) c.559_560del (p.Thr187PhefsTer2) c.361_362del (p.Thr121PhefsTer2) c.*62_*63del (n.*62_*63del) n.932_933del c.136_137del (p.Thr46PhefsTer2) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101412984T>A | CA347974406 | RFX8 | c.988A>T (p.Thr330Ser) c.649A>T (p.Thr217Ser) c.862A>T (p.Thr288Ser) c.775A>T (p.Thr259Ser) c.*365A>T (n.*365A>T) c.877A>T (p.Thr293Ser) c.559A>T (p.Thr187Ser) c.361A>T (p.Thr121Ser) c.*62A>T (n.*62A>T) n.932A>T c.136A>T (p.Thr46Ser) | gnomAD v4 |
2 | g.101412984T>C | CA347974408 | RFX8 | c.988A>G (p.Thr330Ala) c.649A>G (p.Thr217Ala) c.862A>G (p.Thr288Ala) c.775A>G (p.Thr259Ala) c.*365A>G (n.*365A>G) c.877A>G (p.Thr293Ala) c.559A>G (p.Thr187Ala) c.361A>G (p.Thr121Ala) c.*62A>G (n.*62A>G) n.932A>G c.136A>G (p.Thr46Ala) | gnomAD v4 |
2 | g.101412984T>G | CA347974407 | RFX8 | c.988A>C (p.Thr330Pro) c.649A>C (p.Thr217Pro) c.862A>C (p.Thr288Pro) c.775A>C (p.Thr259Pro) c.*365A>C (n.*365A>C) c.877A>C (p.Thr293Pro) c.559A>C (p.Thr187Pro) c.361A>C (p.Thr121Pro) c.*62A>C (n.*62A>C) n.932A>C c.136A>C (p.Thr46Pro) | gnomAD v4 |
2 | g.101412985A= | CA1274778594 | RFX8 | c.987T= (p.Ala329=) c.648T= (p.Ala216=) c.861T= (p.Ala287=) c.774T= (p.Ala258=) c.*364T= (n.*364T=) c.876T= (p.Ala292=) c.558T= (p.Ala186=) c.360T= (p.Ala120=) c.*61T= (n.*61T=) n.931T= c.135T= (p.Ala45=) | |
2 | g.101412985A>C | CA427793341 | RFX8 | c.987T>G (p.Ala329=) c.648T>G (p.Ala216=) c.861T>G (p.Ala287=) c.774T>G (p.Ala258=) c.*364T>G (n.*364T>G) c.876T>G (p.Ala292=) c.558T>G (p.Ala186=) c.360T>G (p.Ala120=) c.*61T>G (n.*61T>G) n.931T>G c.135T>G (p.Ala45=) | |
2 | g.101412985A>G | CA427793344 | RFX8 | c.987T>C (p.Ala329=) c.648T>C (p.Ala216=) c.861T>C (p.Ala287=) c.774T>C (p.Ala258=) c.*364T>C (n.*364T>C) c.876T>C (p.Ala292=) c.558T>C (p.Ala186=) c.360T>C (p.Ala120=) c.*61T>C (n.*61T>C) n.931T>C c.135T>C (p.Ala45=) | dbSNP |
2 | g.101412985A>T | CA427793348 | RFX8 | c.987T>A (p.Ala329=) c.648T>A (p.Ala216=) c.861T>A (p.Ala287=) c.774T>A (p.Ala258=) c.*364T>A (n.*364T>A) c.876T>A (p.Ala292=) c.558T>A (p.Ala186=) c.360T>A (p.Ala120=) c.*61T>A (n.*61T>A) n.931T>A c.135T>A (p.Ala45=) | |
2 | g.101412986G>A | CA1806430 | RFX8 | c.986C>T (p.Ala329Val) c.647C>T (p.Ala216Val) c.860C>T (p.Ala287Val) c.773C>T (p.Ala258Val) c.*363C>T (n.*363C>T) c.875C>T (p.Ala292Val) c.557C>T (p.Ala186Val) c.359C>T (p.Ala120Val) c.*60C>T (n.*60C>T) n.930C>T c.134C>T (p.Ala45Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101412986G>C | CA347974410 | RFX8 | c.986C>G (p.Ala329Gly) c.647C>G (p.Ala216Gly) c.860C>G (p.Ala287Gly) c.773C>G (p.Ala258Gly) c.*363C>G (n.*363C>G) c.875C>G (p.Ala292Gly) c.557C>G (p.Ala186Gly) c.359C>G (p.Ala120Gly) c.*60C>G (n.*60C>G) n.930C>G c.134C>G (p.Ala45Gly) | |
2 | g.101412986G= | CA1274778595 | RFX8 | c.986C= (p.Ala329=) c.647C= (p.Ala216=) c.860C= (p.Ala287=) c.773C= (p.Ala258=) c.*363C= (n.*363C=) c.875C= (p.Ala292=) c.557C= (p.Ala186=) c.359C= (p.Ala120=) c.*60C= (n.*60C=) n.930C= c.134C= (p.Ala45=) | |
2 | g.101412986G>T | CA347974409 | RFX8 | c.986C>A (p.Ala329Asp) c.647C>A (p.Ala216Asp) c.860C>A (p.Ala287Asp) c.773C>A (p.Ala258Asp) c.*363C>A (n.*363C>A) c.875C>A (p.Ala292Asp) c.557C>A (p.Ala186Asp) c.359C>A (p.Ala120Asp) c.*60C>A (n.*60C>A) n.930C>A c.134C>A (p.Ala45Asp) | |
2 | g.101412987C>A | CA347974411 | RFX8 | c.985G>T (p.Ala329Ser) c.646G>T (p.Ala216Ser) c.859G>T (p.Ala287Ser) c.772G>T (p.Ala258Ser) c.*362G>T (n.*362G>T) c.874G>T (p.Ala292Ser) c.556G>T (p.Ala186Ser) c.358G>T (p.Ala120Ser) c.*59G>T (n.*59G>T) n.929G>T c.133G>T (p.Ala45Ser) | |
2 | g.101412987C>G | CA347974413 | RFX8 | c.985G>C (p.Ala329Pro) c.646G>C (p.Ala216Pro) c.859G>C (p.Ala287Pro) c.772G>C (p.Ala258Pro) c.*362G>C (n.*362G>C) c.874G>C (p.Ala292Pro) c.556G>C (p.Ala186Pro) c.358G>C (p.Ala120Pro) c.*59G>C (n.*59G>C) n.929G>C c.133G>C (p.Ala45Pro) | |
2 | g.101412987C>T | CA347974412 | RFX8 | c.985G>A (p.Ala329Thr) c.646G>A (p.Ala216Thr) c.859G>A (p.Ala287Thr) c.772G>A (p.Ala258Thr) c.*362G>A (n.*362G>A) c.874G>A (p.Ala292Thr) c.556G>A (p.Ala186Thr) c.358G>A (p.Ala120Thr) c.*59G>A (n.*59G>A) n.929G>A c.133G>A (p.Ala45Thr) | |
2 | g.101412988C>A | CA347974414 | RFX8 | c.984G>T (p.Leu328Phe) c.645G>T (p.Leu215Phe) c.858G>T (p.Leu286Phe) c.771G>T (p.Leu257Phe) c.*361G>T (n.*361G>T) c.873G>T (p.Leu291Phe) c.555G>T (p.Leu185Phe) c.357G>T (p.Leu119Phe) c.*58G>T (n.*58G>T) n.928G>T c.132G>T (p.Leu44Phe) | |
2 | g.101412988C>G | CA347974415 | RFX8 | c.984G>C (p.Leu328Phe) c.645G>C (p.Leu215Phe) c.858G>C (p.Leu286Phe) c.771G>C (p.Leu257Phe) c.*361G>C (n.*361G>C) c.873G>C (p.Leu291Phe) c.555G>C (p.Leu185Phe) c.357G>C (p.Leu119Phe) c.*58G>C (n.*58G>C) n.928G>C c.132G>C (p.Leu44Phe) | |
2 | g.101412988C>T | CA427793371 | RFX8 | c.984G>A (p.Leu328=) c.645G>A (p.Leu215=) c.858G>A (p.Leu286=) c.771G>A (p.Leu257=) c.*361G>A (n.*361G>A) c.873G>A (p.Leu291=) c.555G>A (p.Leu185=) c.357G>A (p.Leu119=) c.*58G>A (n.*58G>A) n.928G>A c.132G>A (p.Leu44=) | |
2 | g.101412989A= | CA1274778596 | RFX8 | c.983T= (p.Leu328=) c.644T= (p.Leu215=) c.857T= (p.Leu286=) c.770T= (p.Leu257=) c.*360T= (n.*360T=) c.872T= (p.Leu291=) c.554T= (p.Leu185=) c.356T= (p.Leu119=) c.*57T= (n.*57T=) n.927T= c.131T= (p.Leu44=) | |
2 | g.101412989A>C | CA347974416 | RFX8 | c.983T>G (p.Leu328Trp) c.644T>G (p.Leu215Trp) c.857T>G (p.Leu286Trp) c.770T>G (p.Leu257Trp) c.*360T>G (n.*360T>G) c.872T>G (p.Leu291Trp) c.554T>G (p.Leu185Trp) c.356T>G (p.Leu119Trp) c.*57T>G (n.*57T>G) n.927T>G c.131T>G (p.Leu44Trp) | |
2 | g.101412989A>G | CA347974417 | RFX8 | c.983T>C (p.Leu328Ser) c.644T>C (p.Leu215Ser) c.857T>C (p.Leu286Ser) c.770T>C (p.Leu257Ser) c.*360T>C (n.*360T>C) c.872T>C (p.Leu291Ser) c.554T>C (p.Leu185Ser) c.356T>C (p.Leu119Ser) c.*57T>C (n.*57T>C) n.927T>C c.131T>C (p.Leu44Ser) | dbSNP gnomAD v4 |
2 | g.101412989A>T | CA347974418 | RFX8 | c.983T>A (p.Leu328Ter) c.644T>A (p.Leu215Ter) c.857T>A (p.Leu286Ter) c.770T>A (p.Leu257Ter) c.*360T>A (n.*360T>A) c.872T>A (p.Leu291Ter) c.554T>A (p.Leu185Ter) c.356T>A (p.Leu119Ter) c.*57T>A (n.*57T>A) n.927T>A c.131T>A (p.Leu44Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101412990A>C | CA347974419 | RFX8 | c.982T>G (p.Leu328Val) c.643T>G (p.Leu215Val) c.856T>G (p.Leu286Val) c.769T>G (p.Leu257Val) c.*359T>G (n.*359T>G) c.871T>G (p.Leu291Val) c.553T>G (p.Leu185Val) c.355T>G (p.Leu119Val) c.*56T>G (n.*56T>G) n.926T>G c.130T>G (p.Leu44Val) | |
2 | g.101412990A>G | CA427793383 | RFX8 | c.982T>C (p.Leu328=) c.643T>C (p.Leu215=) c.856T>C (p.Leu286=) c.769T>C (p.Leu257=) c.*359T>C (n.*359T>C) c.871T>C (p.Leu291=) c.553T>C (p.Leu185=) c.355T>C (p.Leu119=) c.*56T>C (n.*56T>C) n.926T>C c.130T>C (p.Leu44=) | |
2 | g.101412990A>T | CA347974420 | RFX8 | c.982T>A (p.Leu328Met) c.643T>A (p.Leu215Met) c.856T>A (p.Leu286Met) c.769T>A (p.Leu257Met) c.*359T>A (n.*359T>A) c.871T>A (p.Leu291Met) c.553T>A (p.Leu185Met) c.355T>A (p.Leu119Met) c.*56T>A (n.*56T>A) n.926T>A c.130T>A (p.Leu44Met) | |
2 | g.101412991A= | CA1274778597 | RFX8 | c.981T= (p.Thr327=) c.642T= (p.Thr214=) c.855T= (p.Thr285=) c.768T= (p.Thr256=) c.*358T= (n.*358T=) c.870T= (p.Thr290=) c.552T= (p.Thr184=) c.354T= (p.Thr118=) c.*55T= (n.*55T=) n.925T= c.129T= (p.Thr43=) | |
2 | g.101412991A>C | CA427793389 | RFX8 | c.981T>G (p.Thr327=) c.642T>G (p.Thr214=) c.855T>G (p.Thr285=) c.768T>G (p.Thr256=) c.*358T>G (n.*358T>G) c.870T>G (p.Thr290=) c.552T>G (p.Thr184=) c.354T>G (p.Thr118=) c.*55T>G (n.*55T>G) n.925T>G c.129T>G (p.Thr43=) | |
2 | g.101412991A>G | CA427793391 | RFX8 | c.981T>C (p.Thr327=) c.642T>C (p.Thr214=) c.855T>C (p.Thr285=) c.768T>C (p.Thr256=) c.*358T>C (n.*358T>C) c.870T>C (p.Thr290=) c.552T>C (p.Thr184=) c.354T>C (p.Thr118=) c.*55T>C (n.*55T>C) n.925T>C c.129T>C (p.Thr43=) | |
2 | g.101412991A>T | CA427793393 | RFX8 | c.981T>A (p.Thr327=) c.642T>A (p.Thr214=) c.855T>A (p.Thr285=) c.768T>A (p.Thr256=) c.*358T>A (n.*358T>A) c.870T>A (p.Thr290=) c.552T>A (p.Thr184=) c.354T>A (p.Thr118=) c.*55T>A (n.*55T>A) n.925T>A c.129T>A (p.Thr43=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.101412992G>A | CA347974423 | RFX8 | c.980C>T (p.Thr327Ile) c.641C>T (p.Thr214Ile) c.854C>T (p.Thr285Ile) c.767C>T (p.Thr256Ile) c.*357C>T (n.*357C>T) c.869C>T (p.Thr290Ile) c.551C>T (p.Thr184Ile) c.353C>T (p.Thr118Ile) c.*54C>T (n.*54C>T) n.924C>T c.128C>T (p.Thr43Ile) | |
2 | g.101412992G>C | CA347974421 | RFX8 | c.980C>G (p.Thr327Ser) c.641C>G (p.Thr214Ser) c.854C>G (p.Thr285Ser) c.767C>G (p.Thr256Ser) c.*357C>G (n.*357C>G) c.869C>G (p.Thr290Ser) c.551C>G (p.Thr184Ser) c.353C>G (p.Thr118Ser) c.*54C>G (n.*54C>G) n.924C>G c.128C>G (p.Thr43Ser) | dbSNP gnomAD v4 |
2 | g.101412992G= | CA1274778598 | RFX8 | c.980C= (p.Thr327=) c.641C= (p.Thr214=) c.854C= (p.Thr285=) c.767C= (p.Thr256=) c.*357C= (n.*357C=) c.869C= (p.Thr290=) c.551C= (p.Thr184=) c.353C= (p.Thr118=) c.*54C= (n.*54C=) n.924C= c.128C= (p.Thr43=) | |
2 | g.101412992G>T | CA347974422 | RFX8 | c.980C>A (p.Thr327Asn) c.641C>A (p.Thr214Asn) c.854C>A (p.Thr285Asn) c.767C>A (p.Thr256Asn) c.*357C>A (n.*357C>A) c.869C>A (p.Thr290Asn) c.551C>A (p.Thr184Asn) c.353C>A (p.Thr118Asn) c.*54C>A (n.*54C>A) n.924C>A c.128C>A (p.Thr43Asn) | |
2 | g.101412993T>A | CA347974424 | RFX8 | c.979A>T (p.Thr327Ser) c.640A>T (p.Thr214Ser) c.853A>T (p.Thr285Ser) c.766A>T (p.Thr256Ser) c.*356A>T (n.*356A>T) c.868A>T (p.Thr290Ser) c.550A>T (p.Thr184Ser) c.352A>T (p.Thr118Ser) c.*53A>T (n.*53A>T) n.923A>T c.127A>T (p.Thr43Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.101412993T>C | CA347974425 | RFX8 | c.979A>G (p.Thr327Ala) c.640A>G (p.Thr214Ala) c.853A>G (p.Thr285Ala) c.766A>G (p.Thr256Ala) c.*356A>G (n.*356A>G) c.868A>G (p.Thr290Ala) c.550A>G (p.Thr184Ala) c.352A>G (p.Thr118Ala) c.*53A>G (n.*53A>G) n.923A>G c.127A>G (p.Thr43Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.101412993T>G | CA347974426 | RFX8 | c.979A>C (p.Thr327Pro) c.640A>C (p.Thr214Pro) c.853A>C (p.Thr285Pro) c.766A>C (p.Thr256Pro) c.*356A>C (n.*356A>C) c.868A>C (p.Thr290Pro) c.550A>C (p.Thr184Pro) c.352A>C (p.Thr118Pro) c.*53A>C (n.*53A>C) n.923A>C c.127A>C (p.Thr43Pro) | |
2 | g.101412993T= | CA1274778599 | RFX8 | c.979A= (p.Thr327=) c.640A= (p.Thr214=) c.853A= (p.Thr285=) c.766A= (p.Thr256=) c.*356A= (n.*356A=) c.868A= (p.Thr290=) c.550A= (p.Thr184=) c.352A= (p.Thr118=) c.*53A= (n.*53A=) n.923A= c.127A= (p.Thr43=) | |
2 | g.101412994G>A | CA427793412 | RFX8 | c.978C>T (p.Gly326=) c.639C>T (p.Gly213=) c.852C>T (p.Gly284=) c.765C>T (p.Gly255=) c.*355C>T (n.*355C>T) c.867C>T (p.Gly289=) c.549C>T (p.Gly183=) c.351C>T (p.Gly117=) c.*52C>T (n.*52C>T) n.922C>T c.126C>T (p.Gly42=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101412994G>C | CA427793417 | RFX8 | c.978C>G (p.Gly326=) c.639C>G (p.Gly213=) c.852C>G (p.Gly284=) c.765C>G (p.Gly255=) c.*355C>G (n.*355C>G) c.867C>G (p.Gly289=) c.549C>G (p.Gly183=) c.351C>G (p.Gly117=) c.*52C>G (n.*52C>G) n.922C>G c.126C>G (p.Gly42=) | |
2 | g.101412994G= | CA1274778600 | RFX8 | c.978C= (p.Gly326=) c.639C= (p.Gly213=) c.852C= (p.Gly284=) c.765C= (p.Gly255=) c.*355C= (n.*355C=) c.867C= (p.Gly289=) c.549C= (p.Gly183=) c.351C= (p.Gly117=) c.*52C= (n.*52C=) n.922C= c.126C= (p.Gly42=) | |
2 | g.101412994G>T | CA427793413 | RFX8 | c.978C>A (p.Gly326=) c.639C>A (p.Gly213=) c.852C>A (p.Gly284=) c.765C>A (p.Gly255=) c.*355C>A (n.*355C>A) c.867C>A (p.Gly289=) c.549C>A (p.Gly183=) c.351C>A (p.Gly117=) c.*52C>A (n.*52C>A) n.922C>A c.126C>A (p.Gly42=) | |
2 | g.101412995C>A | CA347974427 | RFX8 | c.977G>T (p.Gly326Val) c.638G>T (p.Gly213Val) c.851G>T (p.Gly284Val) c.764G>T (p.Gly255Val) c.*354G>T (n.*354G>T) c.866G>T (p.Gly289Val) c.548G>T (p.Gly183Val) c.350G>T (p.Gly117Val) c.*51G>T (n.*51G>T) n.921G>T c.125G>T (p.Gly42Val) | |
2 | g.101412995C= | CA1274778601 | RFX8 | c.977G= (p.Gly326=) c.638G= (p.Gly213=) c.851G= (p.Gly284=) c.764G= (p.Gly255=) c.*354G= (n.*354G=) c.866G= (p.Gly289=) c.548G= (p.Gly183=) c.350G= (p.Gly117=) c.*51G= (n.*51G=) n.921G= c.125G= (p.Gly42=) | |
2 | g.101412995C>G | CA347974428 | RFX8 | c.977G>C (p.Gly326Ala) c.638G>C (p.Gly213Ala) c.851G>C (p.Gly284Ala) c.764G>C (p.Gly255Ala) c.*354G>C (n.*354G>C) c.866G>C (p.Gly289Ala) c.548G>C (p.Gly183Ala) c.350G>C (p.Gly117Ala) c.*51G>C (n.*51G>C) n.921G>C c.125G>C (p.Gly42Ala) | ClinVar dbSNP |
2 | g.101412995C>T | CA347974429 | RFX8 | c.977G>A (p.Gly326Asp) c.638G>A (p.Gly213Asp) c.851G>A (p.Gly284Asp) c.764G>A (p.Gly255Asp) c.*354G>A (n.*354G>A) c.866G>A (p.Gly289Asp) c.548G>A (p.Gly183Asp) c.350G>A (p.Gly117Asp) c.*51G>A (n.*51G>A) n.921G>A c.125G>A (p.Gly42Asp) | dbSNP gnomAD v4 |
2 | g.101412996C>A | CA347974430 | RFX8 | c.976G>T (p.Gly326Cys) c.637G>T (p.Gly213Cys) c.850G>T (p.Gly284Cys) c.763G>T (p.Gly255Cys) c.*353G>T (n.*353G>T) c.865G>T (p.Gly289Cys) c.547G>T (p.Gly183Cys) c.349G>T (p.Gly117Cys) c.*50G>T (n.*50G>T) n.920G>T c.124G>T (p.Gly42Cys) | |
2 | g.101412996C>G | CA347974432 | RFX8 | c.976G>C (p.Gly326Arg) c.637G>C (p.Gly213Arg) c.850G>C (p.Gly284Arg) c.763G>C (p.Gly255Arg) c.*353G>C (n.*353G>C) c.865G>C (p.Gly289Arg) c.547G>C (p.Gly183Arg) c.349G>C (p.Gly117Arg) c.*50G>C (n.*50G>C) n.920G>C c.124G>C (p.Gly42Arg) | |
2 | g.101412996C>T | CA347974431 | RFX8 | c.976G>A (p.Gly326Ser) c.637G>A (p.Gly213Ser) c.850G>A (p.Gly284Ser) c.763G>A (p.Gly255Ser) c.*353G>A (n.*353G>A) c.865G>A (p.Gly289Ser) c.547G>A (p.Gly183Ser) c.349G>A (p.Gly117Ser) c.*50G>A (n.*50G>A) n.920G>A c.124G>A (p.Gly42Ser) | gnomAD v4 |
2 | g.101412996_101412998del | CA645513967 | RFX8 | c.974_976del (p.Gln325_Gly326delinsArg) c.635_637del (p.Gln212_Gly213delinsArg) c.848_850del (p.Gln283_Gly284delinsArg) c.761_763del (p.Gln254_Gly255delinsArg) c.*351_*353del (n.*351_*353del) c.863_865del (p.Gln288_Gly289delinsArg) c.545_547del (p.Gln182_Gly183delinsArg) c.347_349del (p.Gln116_Gly117delinsArg) c.*48_*50del (n.*48_*50del) n.918_920del c.122_124del (p.Gln41_Gly42delinsArg) | COSMIC COSMIC |
2 | g.101412997T>A | CA347974433 | RFX8 | c.975A>T (p.Gln325His) c.636A>T (p.Gln212His) c.849A>T (p.Gln283His) c.762A>T (p.Gln254His) c.*352A>T (n.*352A>T) c.864A>T (p.Gln288His) c.546A>T (p.Gln182His) c.348A>T (p.Gln116His) c.*49A>T (n.*49A>T) n.919A>T c.123A>T (p.Gln41His) | |
2 | g.101412997T>C | CA427793432 | RFX8 | c.975A>G (p.Gln325=) c.636A>G (p.Gln212=) c.849A>G (p.Gln283=) c.762A>G (p.Gln254=) c.*352A>G (n.*352A>G) c.864A>G (p.Gln288=) c.546A>G (p.Gln182=) c.348A>G (p.Gln116=) c.*49A>G (n.*49A>G) n.919A>G c.123A>G (p.Gln41=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101412997T>G | CA347974434 | RFX8 | c.975A>C (p.Gln325His) c.636A>C (p.Gln212His) c.849A>C (p.Gln283His) c.762A>C (p.Gln254His) c.*352A>C (n.*352A>C) c.864A>C (p.Gln288His) c.546A>C (p.Gln182His) c.348A>C (p.Gln116His) c.*49A>C (n.*49A>C) n.919A>C c.123A>C (p.Gln41His) | |
2 | g.101412997T= | CA1274778602 | RFX8 | c.975A= (p.Gln325=) c.636A= (p.Gln212=) c.849A= (p.Gln283=) c.762A= (p.Gln254=) c.*352A= (n.*352A=) c.864A= (p.Gln288=) c.546A= (p.Gln182=) c.348A= (p.Gln116=) c.*49A= (n.*49A=) n.919A= c.123A= (p.Gln41=) | |
2 | g.101412998T>A | CA1806431 | RFX8 | c.974A>T (p.Gln325Leu) c.635A>T (p.Gln212Leu) c.848A>T (p.Gln283Leu) c.761A>T (p.Gln254Leu) c.*351A>T (n.*351A>T) c.863A>T (p.Gln288Leu) c.545A>T (p.Gln182Leu) c.347A>T (p.Gln116Leu) c.*48A>T (n.*48A>T) n.918A>T c.122A>T (p.Gln41Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101412998T>C | CA347974435 | RFX8 | c.974A>G (p.Gln325Arg) c.635A>G (p.Gln212Arg) c.848A>G (p.Gln283Arg) c.761A>G (p.Gln254Arg) c.*351A>G (n.*351A>G) c.863A>G (p.Gln288Arg) c.545A>G (p.Gln182Arg) c.347A>G (p.Gln116Arg) c.*48A>G (n.*48A>G) n.918A>G c.122A>G (p.Gln41Arg) | |
2 | g.101412998T>G | CA347974436 | RFX8 | c.974A>C (p.Gln325Pro) c.635A>C (p.Gln212Pro) c.848A>C (p.Gln283Pro) c.761A>C (p.Gln254Pro) c.*351A>C (n.*351A>C) c.863A>C (p.Gln288Pro) c.545A>C (p.Gln182Pro) c.347A>C (p.Gln116Pro) c.*48A>C (n.*48A>C) n.918A>C c.122A>C (p.Gln41Pro) | dbSNP |
2 | g.101412998T= | CA1274778603 | RFX8 | c.974A= (p.Gln325=) c.635A= (p.Gln212=) c.848A= (p.Gln283=) c.761A= (p.Gln254=) c.*351A= (n.*351A=) c.863A= (p.Gln288=) c.545A= (p.Gln182=) c.347A= (p.Gln116=) c.*48A= (n.*48A=) n.918A= c.122A= (p.Gln41=) | |
2 | g.101412998_101412999delinsTG | CA1274778604 | RFX8 | c.973_974delinsCA (p.Gln325=) c.634_635delinsCA (p.Gln212=) c.847_848delinsCA (p.Gln283=) c.760_761delinsCA (p.Gln254=) c.*350_*351delinsCA (n.*350_*351delinsCA) c.862_863delinsCA (p.Gln288=) c.544_545delinsCA (p.Gln182=) c.346_347delinsCA (p.Gln116=) c.*47_*48delinsCA (n.*47_*48delinsCA) n.917_918delinsCA c.121_122delinsCA (p.Gln41=) | |
2 | g.101412999del | CA535107088 | RFX8 | c.973del (p.Gln325LysfsTer27) c.634del (p.Gln212LysfsTer27) c.847del (p.Gln283LysfsTer27) c.760del (p.Gln254LysfsTer27) c.*350del (n.*350del) c.862del (p.Gln288LysfsTer27) c.544del (p.Gln182LysfsTer27) c.346del (p.Gln116LysfsTer27) c.*47del (n.*47del) n.917del c.121del (p.Gln41LysfsTer27) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101412999G>A | CA347974437 | RFX8 | c.973C>T (p.Gln325Ter) c.634C>T (p.Gln212Ter) c.847C>T (p.Gln283Ter) c.760C>T (p.Gln254Ter) c.*350C>T (n.*350C>T) c.862C>T (p.Gln288Ter) c.544C>T (p.Gln182Ter) c.346C>T (p.Gln116Ter) c.*47C>T (n.*47C>T) n.917C>T c.121C>T (p.Gln41Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.101412999G>C | CA347974438 | RFX8 | c.973C>G (p.Gln325Glu) c.634C>G (p.Gln212Glu) c.847C>G (p.Gln283Glu) c.760C>G (p.Gln254Glu) c.*350C>G (n.*350C>G) c.862C>G (p.Gln288Glu) c.544C>G (p.Gln182Glu) c.346C>G (p.Gln116Glu) c.*47C>G (n.*47C>G) n.917C>G c.121C>G (p.Gln41Glu) | |
2 | g.101412999G= | CA1274778605 | RFX8 | c.973C= (p.Gln325=) c.634C= (p.Gln212=) c.847C= (p.Gln283=) c.760C= (p.Gln254=) c.*350C= (n.*350C=) c.862C= (p.Gln288=) c.544C= (p.Gln182=) c.346C= (p.Gln116=) c.*47C= (n.*47C=) n.917C= c.121C= (p.Gln41=) | |
2 | g.101412999G>T | CA347974439 | RFX8 | c.973C>A (p.Gln325Lys) c.634C>A (p.Gln212Lys) c.847C>A (p.Gln283Lys) c.760C>A (p.Gln254Lys) c.*350C>A (n.*350C>A) c.862C>A (p.Gln288Lys) c.544C>A (p.Gln182Lys) c.346C>A (p.Gln116Lys) c.*47C>A (n.*47C>A) n.917C>A c.121C>A (p.Gln41Lys) | |
2 | g.101413000A>C | CA347974440 | RFX8 | c.972T>G (p.Asn324Lys) c.633T>G (p.Asn211Lys) c.846T>G (p.Asn282Lys) c.759T>G (p.Asn253Lys) c.*349T>G (n.*349T>G) c.861T>G (p.Asn287Lys) c.543T>G (p.Asn181Lys) c.345T>G (p.Asn115Lys) c.*46T>G (n.*46T>G) n.916T>G c.120T>G (p.Asn40Lys) | |
2 | g.101413000A>G | CA427793450 | RFX8 | c.972T>C (p.Asn324=) c.633T>C (p.Asn211=) c.846T>C (p.Asn282=) c.759T>C (p.Asn253=) c.*349T>C (n.*349T>C) c.861T>C (p.Asn287=) c.543T>C (p.Asn181=) c.345T>C (p.Asn115=) c.*46T>C (n.*46T>C) n.916T>C c.120T>C (p.Asn40=) | gnomAD v4 |
2 | g.101413000A>T | CA347974441 | RFX8 | c.972T>A (p.Asn324Lys) c.633T>A (p.Asn211Lys) c.846T>A (p.Asn282Lys) c.759T>A (p.Asn253Lys) c.*349T>A (n.*349T>A) c.861T>A (p.Asn287Lys) c.543T>A (p.Asn181Lys) c.345T>A (p.Asn115Lys) c.*46T>A (n.*46T>A) n.916T>A c.120T>A (p.Asn40Lys) | |
2 | g.101413001T>A | CA347974442 | RFX8 | c.971A>T (p.Asn324Ile) c.632A>T (p.Asn211Ile) c.845A>T (p.Asn282Ile) c.758A>T (p.Asn253Ile) c.*348A>T (n.*348A>T) c.860A>T (p.Asn287Ile) c.542A>T (p.Asn181Ile) c.344A>T (p.Asn115Ile) c.*45A>T (n.*45A>T) n.915A>T c.119A>T (p.Asn40Ile) | |
2 | g.101413001T>C | CA1806432 | RFX8 | c.971A>G (p.Asn324Ser) c.632A>G (p.Asn211Ser) c.845A>G (p.Asn282Ser) c.758A>G (p.Asn253Ser) c.*348A>G (n.*348A>G) c.860A>G (p.Asn287Ser) c.542A>G (p.Asn181Ser) c.344A>G (p.Asn115Ser) c.*45A>G (n.*45A>G) n.915A>G c.119A>G (p.Asn40Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101413001T>G | CA347974443 | RFX8 | c.971A>C (p.Asn324Thr) c.632A>C (p.Asn211Thr) c.845A>C (p.Asn282Thr) c.758A>C (p.Asn253Thr) c.*348A>C (n.*348A>C) c.860A>C (p.Asn287Thr) c.542A>C (p.Asn181Thr) c.344A>C (p.Asn115Thr) c.*45A>C (n.*45A>C) n.915A>C c.119A>C (p.Asn40Thr) | |
2 | g.101413001T= | CA1274778606 | RFX8 | c.971A= (p.Asn324=) c.632A= (p.Asn211=) c.845A= (p.Asn282=) c.758A= (p.Asn253=) c.*348A= (n.*348A=) c.860A= (p.Asn287=) c.542A= (p.Asn181=) c.344A= (p.Asn115=) c.*45A= (n.*45A=) n.915A= c.119A= (p.Asn40=) | |
2 | g.101413002T>A | CA347974444 | RFX8 | c.970A>T (p.Asn324Tyr) c.631A>T (p.Asn211Tyr) c.844A>T (p.Asn282Tyr) c.757A>T (p.Asn253Tyr) c.*347A>T (n.*347A>T) c.859A>T (p.Asn287Tyr) c.541A>T (p.Asn181Tyr) c.343A>T (p.Asn115Tyr) c.*44A>T (n.*44A>T) n.914A>T c.118A>T (p.Asn40Tyr) | |
2 | g.101413002T>C | CA347974446 | RFX8 | c.970A>G (p.Asn324Asp) c.631A>G (p.Asn211Asp) c.844A>G (p.Asn282Asp) c.757A>G (p.Asn253Asp) c.*347A>G (n.*347A>G) c.859A>G (p.Asn287Asp) c.541A>G (p.Asn181Asp) c.343A>G (p.Asn115Asp) c.*44A>G (n.*44A>G) n.914A>G c.118A>G (p.Asn40Asp) | |
2 | g.101413002T>G | CA347974445 | RFX8 | c.970A>C (p.Asn324His) c.631A>C (p.Asn211His) c.844A>C (p.Asn282His) c.757A>C (p.Asn253His) c.*347A>C (n.*347A>C) c.859A>C (p.Asn287His) c.541A>C (p.Asn181His) c.343A>C (p.Asn115His) c.*44A>C (n.*44A>C) n.914A>C c.118A>C (p.Asn40His) | |
2 | g.101413003G>A | CA427793467 | RFX8 | c.969C>T (p.Ile323=) c.630C>T (p.Ile210=) c.843C>T (p.Ile281=) c.756C>T (p.Ile252=) c.*346C>T (n.*346C>T) c.858C>T (p.Ile286=) c.540C>T (p.Ile180=) c.342C>T (p.Ile114=) c.*43C>T (n.*43C>T) n.913C>T c.117C>T (p.Ile39=) | |
2 | g.101413003G>C | CA347974447 | RFX8 | c.969C>G (p.Ile323Met) c.630C>G (p.Ile210Met) c.843C>G (p.Ile281Met) c.756C>G (p.Ile252Met) c.*346C>G (n.*346C>G) c.858C>G (p.Ile286Met) c.540C>G (p.Ile180Met) c.342C>G (p.Ile114Met) c.*43C>G (n.*43C>G) n.913C>G c.117C>G (p.Ile39Met) | |
2 | g.101413003G>T | CA427793472 | RFX8 | c.969C>A (p.Ile323=) c.630C>A (p.Ile210=) c.843C>A (p.Ile281=) c.756C>A (p.Ile252=) c.*346C>A (n.*346C>A) c.858C>A (p.Ile286=) c.540C>A (p.Ile180=) c.342C>A (p.Ile114=) c.*43C>A (n.*43C>A) n.913C>A c.117C>A (p.Ile39=) | |
2 | g.101413004A>C | CA347974448 | RFX8 | c.968T>G (p.Ile323Ser) c.629T>G (p.Ile210Ser) c.842T>G (p.Ile281Ser) c.755T>G (p.Ile252Ser) c.*345T>G (n.*345T>G) c.857T>G (p.Ile286Ser) c.539T>G (p.Ile180Ser) c.341T>G (p.Ile114Ser) c.*42T>G (n.*42T>G) n.912T>G c.116T>G (p.Ile39Ser) | |
2 | g.101413004A>G | CA347974449 | RFX8 | c.968T>C (p.Ile323Thr) c.629T>C (p.Ile210Thr) c.842T>C (p.Ile281Thr) c.755T>C (p.Ile252Thr) c.*345T>C (n.*345T>C) c.857T>C (p.Ile286Thr) c.539T>C (p.Ile180Thr) c.341T>C (p.Ile114Thr) c.*42T>C (n.*42T>C) n.912T>C c.116T>C (p.Ile39Thr) | gnomAD v4 |
2 | g.101413004A>T | CA347974450 | RFX8 | c.968T>A (p.Ile323Asn) c.629T>A (p.Ile210Asn) c.842T>A (p.Ile281Asn) c.755T>A (p.Ile252Asn) c.*345T>A (n.*345T>A) c.857T>A (p.Ile286Asn) c.539T>A (p.Ile180Asn) c.341T>A (p.Ile114Asn) c.*42T>A (n.*42T>A) n.912T>A c.116T>A (p.Ile39Asn) | |
2 | g.101413005T>A | CA347974451 | RFX8 | c.967A>T (p.Ile323Phe) c.628A>T (p.Ile210Phe) c.841A>T (p.Ile281Phe) c.754A>T (p.Ile252Phe) c.*344A>T (n.*344A>T) c.856A>T (p.Ile286Phe) c.538A>T (p.Ile180Phe) c.340A>T (p.Ile114Phe) c.*41A>T (n.*41A>T) n.911A>T c.115A>T (p.Ile39Phe) | |
2 | g.101413005T>C | CA347974452 | RFX8 | c.967A>G (p.Ile323Val) c.628A>G (p.Ile210Val) c.841A>G (p.Ile281Val) c.754A>G (p.Ile252Val) c.*344A>G (n.*344A>G) c.856A>G (p.Ile286Val) c.538A>G (p.Ile180Val) c.340A>G (p.Ile114Val) c.*41A>G (n.*41A>G) n.911A>G c.115A>G (p.Ile39Val) | gnomAD v4 |
2 | g.101413005T>G | CA347974453 | RFX8 | c.967A>C (p.Ile323Leu) c.628A>C (p.Ile210Leu) c.841A>C (p.Ile281Leu) c.754A>C (p.Ile252Leu) c.*344A>C (n.*344A>C) c.856A>C (p.Ile286Leu) c.538A>C (p.Ile180Leu) c.340A>C (p.Ile114Leu) c.*41A>C (n.*41A>C) n.911A>C c.115A>C (p.Ile39Leu) | |
2 | g.101413006G>A | CA427793491 | RFX8 | c.966C>T (p.Ile322=) c.627C>T (p.Ile209=) c.840C>T (p.Ile280=) c.753C>T (p.Ile251=) c.*343C>T (n.*343C>T) c.855C>T (p.Ile285=) c.537C>T (p.Ile179=) c.339C>T (p.Ile113=) c.*40C>T (n.*40C>T) n.910C>T c.114C>T (p.Ile38=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.101413006G>C | CA53230245 | RFX8 | c.966C>G (p.Ile322Met) c.627C>G (p.Ile209Met) c.840C>G (p.Ile280Met) c.753C>G (p.Ile251Met) c.*343C>G (n.*343C>G) c.855C>G (p.Ile285Met) c.537C>G (p.Ile179Met) c.339C>G (p.Ile113Met) c.*40C>G (n.*40C>G) n.910C>G c.114C>G (p.Ile38Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.101413006G= | CA1274778607 | RFX8 | c.966C= (p.Ile322=) c.627C= (p.Ile209=) c.840C= (p.Ile280=) c.753C= (p.Ile251=) c.*343C= (n.*343C=) c.855C= (p.Ile285=) c.537C= (p.Ile179=) c.339C= (p.Ile113=) c.*40C= (n.*40C=) n.910C= c.114C= (p.Ile38=) | |
2 | g.101413006G>T | CA427793495 | RFX8 | c.966C>A (p.Ile322=) c.627C>A (p.Ile209=) c.840C>A (p.Ile280=) c.753C>A (p.Ile251=) c.*343C>A (n.*343C>A) c.855C>A (p.Ile285=) c.537C>A (p.Ile179=) c.339C>A (p.Ile113=) c.*40C>A (n.*40C>A) n.910C>A c.114C>A (p.Ile38=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101413007A>C | CA347974454 | RFX8 | c.965T>G (p.Ile322Ser) c.626T>G (p.Ile209Ser) c.839T>G (p.Ile280Ser) c.752T>G (p.Ile251Ser) c.*342T>G (n.*342T>G) c.854T>G (p.Ile285Ser) c.536T>G (p.Ile179Ser) c.338T>G (p.Ile113Ser) c.*39T>G (n.*39T>G) n.909T>G c.113T>G (p.Ile38Ser) | |
2 | g.101413007A>G | CA347974455 | RFX8 | c.965T>C (p.Ile322Thr) c.626T>C (p.Ile209Thr) c.839T>C (p.Ile280Thr) c.752T>C (p.Ile251Thr) c.*342T>C (n.*342T>C) c.854T>C (p.Ile285Thr) c.536T>C (p.Ile179Thr) c.338T>C (p.Ile113Thr) c.*39T>C (n.*39T>C) n.909T>C c.113T>C (p.Ile38Thr) | |
2 | g.101413007A>T | CA347974456 | RFX8 | c.965T>A (p.Ile322Asn) c.626T>A (p.Ile209Asn) c.839T>A (p.Ile280Asn) c.752T>A (p.Ile251Asn) c.*342T>A (n.*342T>A) c.854T>A (p.Ile285Asn) c.536T>A (p.Ile179Asn) c.338T>A (p.Ile113Asn) c.*39T>A (n.*39T>A) n.909T>A c.113T>A (p.Ile38Asn) | |
2 | g.101413008T>A | CA347974457 | RFX8 | c.964A>T (p.Ile322Phe) c.625A>T (p.Ile209Phe) c.838A>T (p.Ile280Phe) c.751A>T (p.Ile251Phe) c.*341A>T (n.*341A>T) c.853A>T (p.Ile285Phe) c.535A>T (p.Ile179Phe) c.337A>T (p.Ile113Phe) c.*38A>T (n.*38A>T) n.908A>T c.112A>T (p.Ile38Phe) | |
2 | g.101413008T>C | CA53230247 | RFX8 | c.964A>G (p.Ile322Val) c.625A>G (p.Ile209Val) c.838A>G (p.Ile280Val) c.751A>G (p.Ile251Val) c.*341A>G (n.*341A>G) c.853A>G (p.Ile285Val) c.535A>G (p.Ile179Val) c.337A>G (p.Ile113Val) c.*38A>G (n.*38A>G) n.908A>G c.112A>G (p.Ile38Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.101413008T>G | CA347974458 | RFX8 | c.964A>C (p.Ile322Leu) c.625A>C (p.Ile209Leu) c.838A>C (p.Ile280Leu) c.751A>C (p.Ile251Leu) c.*341A>C (n.*341A>C) c.853A>C (p.Ile285Leu) c.535A>C (p.Ile179Leu) c.337A>C (p.Ile113Leu) c.*38A>C (n.*38A>C) n.908A>C c.112A>C (p.Ile38Leu) | |
2 | g.101413008T= | CA1274778608 | RFX8 | c.964A= (p.Ile322=) c.625A= (p.Ile209=) c.838A= (p.Ile280=) c.751A= (p.Ile251=) c.*341A= (n.*341A=) c.853A= (p.Ile285=) c.535A= (p.Ile179=) c.337A= (p.Ile113=) c.*38A= (n.*38A=) n.908A= c.112A= (p.Ile38=) | |
2 | g.101413009G>A | CA427793513 | RFX8 | c.963C>T (p.Ala321=) c.624C>T (p.Ala208=) c.837C>T (p.Ala279=) c.750C>T (p.Ala250=) c.*340C>T (n.*340C>T) c.852C>T (p.Ala284=) c.534C>T (p.Ala178=) c.336C>T (p.Ala112=) c.*37C>T (n.*37C>T) n.907C>T c.111C>T (p.Ala37=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.101413009G>C | CA427793515 | RFX8 | c.963C>G (p.Ala321=) c.624C>G (p.Ala208=) c.837C>G (p.Ala279=) c.750C>G (p.Ala250=) c.*340C>G (n.*340C>G) c.852C>G (p.Ala284=) c.534C>G (p.Ala178=) c.336C>G (p.Ala112=) c.*37C>G (n.*37C>G) n.907C>G c.111C>G (p.Ala37=) | |
2 | g.101413009G= | CA1274778609 | RFX8 | c.963C= (p.Ala321=) c.624C= (p.Ala208=) c.837C= (p.Ala279=) c.750C= (p.Ala250=) c.*340C= (n.*340C=) c.852C= (p.Ala284=) c.534C= (p.Ala178=) c.336C= (p.Ala112=) c.*37C= (n.*37C=) n.907C= c.111C= (p.Ala37=) | |
2 | g.101413009G>T | CA427793519 | RFX8 | c.963C>A (p.Ala321=) c.624C>A (p.Ala208=) c.837C>A (p.Ala279=) c.750C>A (p.Ala250=) c.*340C>A (n.*340C>A) c.852C>A (p.Ala284=) c.534C>A (p.Ala178=) c.336C>A (p.Ala112=) c.*37C>A (n.*37C>A) n.907C>A c.111C>A (p.Ala37=) | |
2 | g.101413010G>A | CA347974459 | RFX8 | c.962C>T (p.Ala321Val) c.623C>T (p.Ala208Val) c.836C>T (p.Ala279Val) c.749C>T (p.Ala250Val) c.*339C>T (n.*339C>T) c.851C>T (p.Ala284Val) c.533C>T (p.Ala178Val) c.335C>T (p.Ala112Val) c.*36C>T (n.*36C>T) n.906C>T c.110C>T (p.Ala37Val) | gnomAD v4 |
2 | g.101413010G>C | CA347974461 | RFX8 | c.962C>G (p.Ala321Gly) c.623C>G (p.Ala208Gly) c.836C>G (p.Ala279Gly) c.749C>G (p.Ala250Gly) c.*339C>G (n.*339C>G) c.851C>G (p.Ala284Gly) c.533C>G (p.Ala178Gly) c.335C>G (p.Ala112Gly) c.*36C>G (n.*36C>G) n.906C>G c.110C>G (p.Ala37Gly) | |
2 | g.101413010G>T | CA347974460 | RFX8 | c.962C>A (p.Ala321Asp) c.623C>A (p.Ala208Asp) c.836C>A (p.Ala279Asp) c.749C>A (p.Ala250Asp) c.*339C>A (n.*339C>A) c.851C>A (p.Ala284Asp) c.533C>A (p.Ala178Asp) c.335C>A (p.Ala112Asp) c.*36C>A (n.*36C>A) n.906C>A c.110C>A (p.Ala37Asp) |