Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.22993015_22993018delinsGATC | CA2289916282 | RBBP8 | c.1188_1191delinsGATC (p.Lys396=) c.366_369delinsGATC (p.Lys122=) c.894_897delinsGATC (p.Lys298=) | |
18 | g.22993018_22993020del | CA2289916284 | RBBP8 | c.1191_1193del (p.Ile398del) c.369_371del (p.Ile124del) c.897_899del (p.Ile300del) | dbSNP |
18 | g.22993017T>A | CA401776857 | RBBP8 | c.1190T>A (p.Ile397Asn) c.368T>A (p.Ile123Asn) c.896T>A (p.Ile299Asn) | |
18 | g.22993017T>C | CA401776859 | RBBP8 | c.1190T>C (p.Ile397Thr) c.368T>C (p.Ile123Thr) c.896T>C (p.Ile299Thr) | |
18 | g.22993017T>G | CA401776855 | RBBP8 | c.1190T>G (p.Ile397Ser) c.368T>G (p.Ile123Ser) c.896T>G (p.Ile299Ser) | |
18 | g.22993018C>A | CA503520916 | RBBP8 | c.1191C>A (p.Ile397=) c.369C>A (p.Ile123=) c.897C>A (p.Ile299=) | |
18 | g.22993018C>G | CA401776860 | RBBP8 | c.1191C>G (p.Ile397Met) c.369C>G (p.Ile123Met) c.897C>G (p.Ile299Met) | |
18 | g.22993018C>T | CA503520917 | RBBP8 | c.1191C>T (p.Ile397=) c.369C>T (p.Ile123=) c.897C>T (p.Ile299=) | |
18 | g.22993019A= | CA2289916286 | RBBP8 | c.1192A= (p.Ile398=) c.370A= (p.Ile124=) c.898A= (p.Ile300=) | |
18 | g.22993019A>C | CA401776862 | RBBP8 | c.1192A>C (p.Ile398Leu) c.370A>C (p.Ile124Leu) c.898A>C (p.Ile300Leu) | |
18 | g.22993019A>G | CA401776865 | RBBP8 | c.1192A>G (p.Ile398Val) c.370A>G (p.Ile124Val) c.898A>G (p.Ile300Val) | gnomAD v4 |
18 | g.22993019A>T | CA401776863 | RBBP8 | c.1192A>T (p.Ile398Phe) c.370A>T (p.Ile124Phe) c.898A>T (p.Ile300Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22993020T>A | CA401776867 | RBBP8 | c.1193T>A (p.Ile398Asn) c.371T>A (p.Ile124Asn) c.899T>A (p.Ile300Asn) | gnomAD v4 |
18 | g.22993020T>C | CA401776869 | RBBP8 | c.1193T>C (p.Ile398Thr) c.371T>C (p.Ile124Thr) c.899T>C (p.Ile300Thr) | |
18 | g.22993020T>G | CA401776868 | RBBP8 | c.1193T>G (p.Ile398Ser) c.371T>G (p.Ile124Ser) c.899T>G (p.Ile300Ser) | |
18 | g.22993021T>A | CA503520918 | RBBP8 | c.1194T>A (p.Ile398=) c.372T>A (p.Ile124=) c.900T>A (p.Ile300=) | |
18 | g.22993021T>C | CA503520919 | RBBP8 | c.1194T>C (p.Ile398=) c.372T>C (p.Ile124=) c.900T>C (p.Ile300=) | |
18 | g.22993021T>G | CA8910029 | RBBP8 | c.1194T>G (p.Ile398Met) c.372T>G (p.Ile124Met) c.900T>G (p.Ile300Met) | dbSNP ExAC gnomAD v2 |
18 | g.22993021T= | CA2289916290 | RBBP8 | c.1194T= (p.Ile398=) c.372T= (p.Ile124=) c.900T= (p.Ile300=) | |
18 | g.22993022A= | CA2289916293 | RBBP8 | c.1195A= (p.Ile399=) c.373A= (p.Ile125=) c.901A= (p.Ile301=) | |
18 | g.22993022A>C | CA401776873 | RBBP8 | c.1195A>C (p.Ile399Leu) c.373A>C (p.Ile125Leu) c.901A>C (p.Ile301Leu) | |
18 | g.22993022A>G | CA297050869 | RBBP8 | c.1195A>G (p.Ile399Val) c.373A>G (p.Ile125Val) c.901A>G (p.Ile301Val) | dbSNP |
18 | g.22993022A>T | CA401776872 | RBBP8 | c.1195A>T (p.Ile399Phe) c.373A>T (p.Ile125Phe) c.901A>T (p.Ile301Phe) | |
18 | g.22993023T>A | CA401776876 | RBBP8 | c.1196T>A (p.Ile399Asn) c.374T>A (p.Ile125Asn) c.902T>A (p.Ile301Asn) | |
18 | g.22993023T>C | CA401776877 | RBBP8 | c.1196T>C (p.Ile399Thr) c.374T>C (p.Ile125Thr) c.902T>C (p.Ile301Thr) | |
18 | g.22993023T>G | CA401776878 | RBBP8 | c.1196T>G (p.Ile399Ser) c.374T>G (p.Ile125Ser) c.902T>G (p.Ile301Ser) | |
18 | g.22993024C>A | CA503520920 | RBBP8 | c.1197C>A (p.Ile399=) c.375C>A (p.Ile125=) c.903C>A (p.Ile301=) | |
18 | g.22993024C= | CA2289916296 | RBBP8 | c.1197C= (p.Ile399=) c.375C= (p.Ile125=) c.903C= (p.Ile301=) | |
18 | g.22993024C>G | CA401776880 | RBBP8 | c.1197C>G (p.Ile399Met) c.375C>G (p.Ile125Met) c.903C>G (p.Ile301Met) | |
18 | g.22993024C>T | CA297050871 | RBBP8 | c.1197C>T (p.Ile399=) c.375C>T (p.Ile125=) c.903C>T (p.Ile301=) | dbSNP |
18 | g.22993025C>A | CA401776882 | RBBP8 | c.1198C>A (p.Gln400Lys) c.376C>A (p.Gln126Lys) c.904C>A (p.Gln302Lys) | |
18 | g.22993025C>G | CA401776884 | RBBP8 | c.1198C>G (p.Gln400Glu) c.376C>G (p.Gln126Glu) c.904C>G (p.Gln302Glu) | |
18 | g.22993025C>T | CA401776886 | RBBP8 | c.1198C>T (p.Gln400Ter) c.376C>T (p.Gln126Ter) c.904C>T (p.Gln302Ter) | |
18 | g.22993026A>C | CA401776887 | RBBP8 | c.1199A>C (p.Gln400Pro) c.377A>C (p.Gln126Pro) c.905A>C (p.Gln302Pro) | |
18 | g.22993026A>G | CA401776888 | RBBP8 | c.1199A>G (p.Gln400Arg) c.377A>G (p.Gln126Arg) c.905A>G (p.Gln302Arg) | gnomAD v4 |
18 | g.22993026A>T | CA401776889 | RBBP8 | c.1199A>T (p.Gln400Leu) c.377A>T (p.Gln126Leu) c.905A>T (p.Gln302Leu) | |
18 | g.22993027G>A | CA503520921 | RBBP8 | c.1200G>A (p.Gln400=) c.378G>A (p.Gln126=) c.906G>A (p.Gln302=) | |
18 | g.22993027G>C | CA401776890 | RBBP8 | c.1200G>C (p.Gln400His) c.378G>C (p.Gln126His) c.906G>C (p.Gln302His) | |
18 | g.22993027G>T | CA401776891 | RBBP8 | c.1200G>T (p.Gln400His) c.378G>T (p.Gln126His) c.906G>T (p.Gln302His) | |
18 | g.22993028T>A | CA401776892 | RBBP8 | c.1201T>A (p.Ser401Thr) c.379T>A (p.Ser127Thr) c.907T>A (p.Ser303Thr) | |
18 | g.22993028T>C | CA401776893 | RBBP8 | c.1201T>C (p.Ser401Pro) c.379T>C (p.Ser127Pro) c.907T>C (p.Ser303Pro) | |
18 | g.22993028T>G | CA401776894 | RBBP8 | c.1201T>G (p.Ser401Ala) c.379T>G (p.Ser127Ala) c.907T>G (p.Ser303Ala) | |
18 | g.22993029C>A | CA401776895 | RBBP8 | c.1202C>A (p.Ser401Ter) c.380C>A (p.Ser127Ter) c.908C>A (p.Ser303Ter) | gnomAD v4 |
18 | g.22993029C>G | CA401776896 | RBBP8 | c.1202C>G (p.Ser401Ter) c.380C>G (p.Ser127Ter) c.908C>G (p.Ser303Ter) | |
18 | g.22993029C>T | CA401776897 | RBBP8 | c.1202C>T (p.Ser401Leu) c.380C>T (p.Ser127Leu) c.908C>T (p.Ser303Leu) | |
18 | g.22993030A= | CA2289916298 | RBBP8 | c.1203A= (p.Ser401=) c.381A= (p.Ser127=) c.909A= (p.Ser303=) | |
18 | g.22993030A>C | CA503520922 | RBBP8 | c.1203A>C (p.Ser401=) c.381A>C (p.Ser127=) c.909A>C (p.Ser303=) | |
18 | g.22993030A>G | CA503520923 | RBBP8 | c.1203A>G (p.Ser401=) c.381A>G (p.Ser127=) c.909A>G (p.Ser303=) | gnomAD v4 |
18 | g.22993030A>T | CA8910030 | RBBP8 | c.1203A>T (p.Ser401=) c.381A>T (p.Ser127=) c.909A>T (p.Ser303=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22993031T>A | CA401776898 | RBBP8 | c.1204T>A (p.Ser402Thr) c.382T>A (p.Ser128Thr) c.910T>A (p.Ser304Thr) | |
18 | g.22993031T>C | CA401776899 | RBBP8 | c.1204T>C (p.Ser402Pro) c.382T>C (p.Ser128Pro) c.910T>C (p.Ser304Pro) | |
18 | g.22993031T>G | CA401776900 | RBBP8 | c.1204T>G (p.Ser402Ala) c.382T>G (p.Ser128Ala) c.910T>G (p.Ser304Ala) | |
18 | g.22993032C>A | CA8910031 | RBBP8 | c.1205C>A (p.Ser402Tyr) c.383C>A (p.Ser128Tyr) c.911C>A (p.Ser304Tyr) | dbSNP ExAC gnomAD v2 |
18 | g.22993032C= | CA2289916301 | RBBP8 | c.1205C= (p.Ser402=) c.383C= (p.Ser128=) c.911C= (p.Ser304=) | |
18 | g.22993032C>G | CA401776902 | RBBP8 | c.1205C>G (p.Ser402Cys) c.383C>G (p.Ser128Cys) c.911C>G (p.Ser304Cys) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.22993032C>T | CA401776901 | RBBP8 | c.1205C>T (p.Ser402Phe) c.383C>T (p.Ser128Phe) c.911C>T (p.Ser304Phe) | |
18 | g.22993033T>A | CA503520925 | RBBP8 | c.1206T>A (p.Ser402=) c.384T>A (p.Ser128=) c.912T>A (p.Ser304=) | |
18 | g.22993033T>C | CA503520926 | RBBP8 | c.1206T>C (p.Ser402=) c.384T>C (p.Ser128=) c.912T>C (p.Ser304=) | |
18 | g.22993033T>G | CA503520924 | RBBP8 | c.1206T>G (p.Ser402=) c.384T>G (p.Ser128=) c.912T>G (p.Ser304=) | |
18 | g.22993034A>C | CA401776903 | RBBP8 | c.1207A>C (p.Asn403His) c.385A>C (p.Asn129His) c.913A>C (p.Asn305His) | |
18 | g.22993034A>G | CA401776904 | RBBP8 | c.1207A>G (p.Asn403Asp) c.385A>G (p.Asn129Asp) c.913A>G (p.Asn305Asp) | |
18 | g.22993034A>T | CA401776905 | RBBP8 | c.1207A>T (p.Asn403Tyr) c.385A>T (p.Asn129Tyr) c.913A>T (p.Asn305Tyr) | |
18 | g.22993035A= | CA2289916303 | RBBP8 | c.1208A= (p.Asn403=) c.386A= (p.Asn129=) c.914A= (p.Asn305=) | |
18 | g.22993035A>C | CA401776906 | RBBP8 | c.1208A>C (p.Asn403Thr) c.386A>C (p.Asn129Thr) c.914A>C (p.Asn305Thr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.22993035A>G | CA401776907 | RBBP8 | c.1208A>G (p.Asn403Ser) c.386A>G (p.Asn129Ser) c.914A>G (p.Asn305Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22993035A>T | CA401776908 | RBBP8 | c.1208A>T (p.Asn403Ile) c.386A>T (p.Asn129Ile) c.914A>T (p.Asn305Ile) | |
18 | g.22993036T>A | CA401776909 | RBBP8 | c.1209T>A (p.Asn403Lys) c.387T>A (p.Asn129Lys) c.915T>A (p.Asn305Lys) | |
18 | g.22993036T>C | CA503520927 | RBBP8 | c.1209T>C (p.Asn403=) c.387T>C (p.Asn129=) c.915T>C (p.Asn305=) | |
18 | g.22993036T>G | CA401776910 | RBBP8 | c.1209T>G (p.Asn403Lys) c.387T>G (p.Asn129Lys) c.915T>G (p.Asn305Lys) | |
18 | g.22993037A>C | CA401776911 | RBBP8 | c.1210A>C (p.Lys404Gln) c.388A>C (p.Lys130Gln) c.916A>C (p.Lys306Gln) | |
18 | g.22993037A>G | CA401776912 | RBBP8 | c.1210A>G (p.Lys404Glu) c.388A>G (p.Lys130Glu) c.916A>G (p.Lys306Glu) | |
18 | g.22993037A>T | CA401776913 | RBBP8 | c.1210A>T (p.Lys404Ter) c.388A>T (p.Lys130Ter) c.916A>T (p.Lys306Ter) | |
18 | g.22993038A>C | CA401776916 | RBBP8 | c.1211A>C (p.Lys404Thr) c.389A>C (p.Lys130Thr) c.917A>C (p.Lys306Thr) | |
18 | g.22993038A>G | CA401776915 | RBBP8 | c.1211A>G (p.Lys404Arg) c.389A>G (p.Lys130Arg) c.917A>G (p.Lys306Arg) | |
18 | g.22993038A>T | CA401776914 | RBBP8 | c.1211A>T (p.Lys404Ile) c.389A>T (p.Lys130Ile) c.917A>T (p.Lys306Ile) | |
18 | g.22993039A= | CA2289916307 | RBBP8 | c.1212A= (p.Lys404=) c.390A= (p.Lys130=) c.918A= (p.Lys306=) | |
18 | g.22993039A>C | CA401776917 | RBBP8 | c.1212A>C (p.Lys404Asn) c.390A>C (p.Lys130Asn) c.918A>C (p.Lys306Asn) | |
18 | g.22993039A>G | CA503520929 | RBBP8 | c.1212A>G (p.Lys404=) c.390A>G (p.Lys130=) c.918A>G (p.Lys306=) | dbSNP gnomAD v4 |
18 | g.22993039A>T | CA401776918 | RBBP8 | c.1212A>T (p.Lys404Asn) c.390A>T (p.Lys130Asn) c.918A>T (p.Lys306Asn) | |
18 | g.22993040C>A | CA401776919 | RBBP8 | c.1213C>A (p.Gln405Lys) c.391C>A (p.Gln131Lys) c.919C>A (p.Gln307Lys) | |
18 | g.22993040C>G | CA401776920 | RBBP8 | c.1213C>G (p.Gln405Glu) c.391C>G (p.Gln131Glu) c.919C>G (p.Gln307Glu) | |
18 | g.22993040C>T | CA401776921 | RBBP8 | c.1213C>T (p.Gln405Ter) c.391C>T (p.Gln131Ter) c.919C>T (p.Gln307Ter) | gnomAD v4 |
18 | g.22993041A>C | CA401776922 | RBBP8 | c.1214A>C (p.Gln405Pro) c.392A>C (p.Gln131Pro) c.920A>C (p.Gln307Pro) | |
18 | g.22993041A>G | CA401776923 | RBBP8 | c.1214A>G (p.Gln405Arg) c.392A>G (p.Gln131Arg) c.920A>G (p.Gln307Arg) | |
18 | g.22993041A>T | CA401776924 | RBBP8 | c.1214A>T (p.Gln405Leu) c.392A>T (p.Gln131Leu) c.920A>T (p.Gln307Leu) | |
18 | g.22993042G>A | CA503520931 | RBBP8 | c.1215G>A (p.Gln405=) c.393G>A (p.Gln131=) c.921G>A (p.Gln307=) | |
18 | g.22993042G>C | CA401776925 | RBBP8 | c.1215G>C (p.Gln405His) c.393G>C (p.Gln131His) c.921G>C (p.Gln307His) | |
18 | g.22993042G>T | CA401776926 | RBBP8 | c.1215G>T (p.Gln405His) c.393G>T (p.Gln131His) c.921G>T (p.Gln307His) | |
18 | g.22993043A= | CA2289916309 | RBBP8 | c.1216A= (p.Ile406=) c.394A= (p.Ile132=) c.922A= (p.Ile308=) | |
18 | g.22993043A>C | CA401776927 | RBBP8 | c.1216A>C (p.Ile406Leu) c.394A>C (p.Ile132Leu) c.922A>C (p.Ile308Leu) | |
18 | g.22993043A>G | CA401776928 | RBBP8 | c.1216A>G (p.Ile406Val) c.394A>G (p.Ile132Val) c.922A>G (p.Ile308Val) | dbSNP gnomAD v4 |
18 | g.22993043A>T | CA401776929 | RBBP8 | c.1216A>T (p.Ile406Leu) c.394A>T (p.Ile132Leu) c.922A>T (p.Ile308Leu) | gnomAD v4 |
18 | g.22993044T>A | CA401776931 | RBBP8 | c.1217T>A (p.Ile406Lys) c.395T>A (p.Ile132Lys) c.923T>A (p.Ile308Lys) | |
18 | g.22993044T>C | CA401776932 | RBBP8 | c.1217T>C (p.Ile406Thr) c.395T>C (p.Ile132Thr) c.923T>C (p.Ile308Thr) | |
18 | g.22993044T>G | CA401776930 | RBBP8 | c.1217T>G (p.Ile406Arg) c.395T>G (p.Ile132Arg) c.923T>G (p.Ile308Arg) | |
18 | g.22993046_22993049del | CA2641247342 | RBBP8 | c.1219_1222del (p.Leu407Ter) c.397_400del (p.Leu133Ter) c.925_928del (p.Leu309Ter) | gnomAD v4 |
18 | g.22993045A= | CA2289916311 | RBBP8 | c.1218A= (p.Ile406=) c.396A= (p.Ile132=) c.924A= (p.Ile308=) | |
18 | g.22993045A>C | CA503520934 | RBBP8 | c.1218A>C (p.Ile406=) c.396A>C (p.Ile132=) c.924A>C (p.Ile308=) | |
18 | g.22993045A>G | CA401776933 | RBBP8 | c.1218A>G (p.Ile406Met) c.396A>G (p.Ile132Met) c.924A>G (p.Ile308Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22993045A>T | CA503520936 | RBBP8 | c.1218A>T (p.Ile406=) c.396A>T (p.Ile132=) c.924A>T (p.Ile308=) | |
18 | g.22993046C>A | CA401776934 | RBBP8 | c.1219C>A (p.Leu407Ile) c.397C>A (p.Leu133Ile) c.925C>A (p.Leu309Ile) | |
18 | g.22993046C= | CA2289916314 | RBBP8 | c.1219C= (p.Leu407=) c.397C= (p.Leu133=) c.925C= (p.Leu309=) | |
18 | g.22993046C>G | CA401776935 | RBBP8 | c.1219C>G (p.Leu407Val) c.397C>G (p.Leu133Val) c.925C>G (p.Leu309Val) | |
18 | g.22993046C>T | CA8910032 | RBBP8 | c.1219C>T (p.Leu407Phe) c.397C>T (p.Leu133Phe) c.925C>T (p.Leu309Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22993047T>A | CA401776936 | RBBP8 | c.1220T>A (p.Leu407His) c.398T>A (p.Leu133His) c.926T>A (p.Leu309His) | |
18 | g.22993047T>C | CA401776937 | RBBP8 | c.1220T>C (p.Leu407Pro) c.398T>C (p.Leu133Pro) c.926T>C (p.Leu309Pro) | |
18 | g.22993047T>G | CA401776938 | RBBP8 | c.1220T>G (p.Leu407Arg) c.398T>G (p.Leu133Arg) c.926T>G (p.Leu309Arg) | |
18 | g.22993047_22993053delinsTTATAAA | CA2289916316 | RBBP8 | c.1220_1226delinsTTATAAA (p.Leu407=) c.398_404delinsTTATAAA (p.Leu133=) c.926_932delinsTTATAAA (p.Leu309=) | |
18 | g.22993048T>A | CA503520940 | RBBP8 | c.1221T>A (p.Leu407=) c.399T>A (p.Leu133=) c.927T>A (p.Leu309=) | |
18 | g.22993048T>C | CA503520941 | RBBP8 | c.1221T>C (p.Leu407=) c.399T>C (p.Leu133=) c.927T>C (p.Leu309=) | |
18 | g.22993048T>G | CA503520942 | RBBP8 | c.1221T>G (p.Leu407=) c.399T>G (p.Leu133=) c.927T>G (p.Leu309=) | |
18 | g.22993050_22993055del | CA8910033 | RBBP8 | c.1223_1228del (p.Ile408_Asn409del) c.401_406del (p.Ile134_Asn135del) c.929_934del (p.Ile310_Asn311del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22993049A= | CA2289916320 | RBBP8 | c.1222A= (p.Ile408=) c.400A= (p.Ile134=) c.928A= (p.Ile310=) | |
18 | g.22993049A>C | CA401776939 | RBBP8 | c.1222A>C (p.Ile408Leu) c.400A>C (p.Ile134Leu) c.928A>C (p.Ile310Leu) | |
18 | g.22993049A>G | CA401776940 | RBBP8 | c.1222A>G (p.Ile408Val) c.400A>G (p.Ile134Val) c.928A>G (p.Ile310Val) | |
18 | g.22993049A>T | CA8910034 | RBBP8 | c.1222A>T (p.Ile408Leu) c.400A>T (p.Ile134Leu) c.928A>T (p.Ile310Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22993050T>A | CA401776943 | RBBP8 | c.1223T>A (p.Ile408Lys) c.401T>A (p.Ile134Lys) c.929T>A (p.Ile310Lys) | |
18 | g.22993050T>C | CA401776942 | RBBP8 | c.1223T>C (p.Ile408Thr) c.401T>C (p.Ile134Thr) c.929T>C (p.Ile310Thr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.22993050T>G | CA401776941 | RBBP8 | c.1223T>G (p.Ile408Arg) c.401T>G (p.Ile134Arg) c.929T>G (p.Ile310Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.22993050T= | CA2289916322 | RBBP8 | c.1223T= (p.Ile408=) c.401T= (p.Ile134=) c.929T= (p.Ile310=) | |
18 | g.22993051A>C | CA503520946 | RBBP8 | c.1224A>C (p.Ile408=) c.402A>C (p.Ile134=) c.930A>C (p.Ile310=) | |
18 | g.22993051A>G | CA401776944 | RBBP8 | c.1224A>G (p.Ile408Met) c.402A>G (p.Ile134Met) c.930A>G (p.Ile310Met) | gnomAD v4 |
18 | g.22993051A>T | CA503520949 | RBBP8 | c.1224A>T (p.Ile408=) c.402A>T (p.Ile134=) c.930A>T (p.Ile310=) | |
18 | g.22993051_22993052insTTTTT | CA2641247343 | RBBP8 | c.1224_1225insTTTTT (p.Asn409PhefsTer6) c.402_403insTTTTT (p.Asn135PhefsTer6) c.930_931insTTTTT (p.Asn311PhefsTer6) | gnomAD v4 |
18 | g.22993052A>C | CA401776945 | RBBP8 | c.1225A>C (p.Asn409His) c.403A>C (p.Asn135His) c.931A>C (p.Asn311His) | dbSNP gnomAD v4 |
18 | g.22993052A>G | CA401776946 | RBBP8 | c.1225A>G (p.Asn409Asp) c.403A>G (p.Asn135Asp) c.931A>G (p.Asn311Asp) | |
18 | g.22993052A>T | CA401776947 | RBBP8 | c.1225A>T (p.Asn409Tyr) c.403A>T (p.Asn135Tyr) c.931A>T (p.Asn311Tyr) | |
18 | g.22993053A>C | CA401776948 | RBBP8 | c.1226A>C (p.Asn409Thr) c.404A>C (p.Asn135Thr) c.932A>C (p.Asn311Thr) | |
18 | g.22993053A>G | CA401776949 | RBBP8 | c.1226A>G (p.Asn409Ser) c.404A>G (p.Asn135Ser) c.932A>G (p.Asn311Ser) | gnomAD v4 |
18 | g.22993053A>T | CA401776950 | RBBP8 | c.1226A>T (p.Asn409Ile) c.404A>T (p.Asn135Ile) c.932A>T (p.Asn311Ile) | gnomAD v4 |
18 | g.22993054T>A | CA401776951 | RBBP8 | c.1227T>A (p.Asn409Lys) c.405T>A (p.Asn135Lys) c.933T>A (p.Asn311Lys) | |
18 | g.22993054T>C | CA503520952 | RBBP8 | c.1227T>C (p.Asn409=) c.405T>C (p.Asn135=) c.933T>C (p.Asn311=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22993054T>G | CA401776952 | RBBP8 | c.1227T>G (p.Asn409Lys) c.405T>G (p.Asn135Lys) c.933T>G (p.Asn311Lys) | |
18 | g.22993054T= | CA2289916324 | RBBP8 | c.1227T= (p.Asn409=) c.405T= (p.Asn135=) c.933T= (p.Asn311=) | |
18 | g.22993054_22993058delinsTAAAA | CA2289916323 | RBBP8 | c.1227_1231delinsTAAAA (p.Asn409=) c.405_409delinsTAAAA (p.Asn135=) c.933_937delinsTAAAA (p.Asn311=) | |
18 | g.22993055A>C | CA401776953 | RBBP8 | c.1228A>C (p.Lys410Gln) c.406A>C (p.Lys136Gln) c.934A>C (p.Lys312Gln) | |
18 | g.22993055A>G | CA401776954 | RBBP8 | c.1228A>G (p.Lys410Glu) c.406A>G (p.Lys136Glu) c.934A>G (p.Lys312Glu) | |
18 | g.22993055A>T | CA401776955 | RBBP8 | c.1228A>T (p.Lys410Ter) c.406A>T (p.Lys136Ter) c.934A>T (p.Lys312Ter) | |
18 | g.22993055_22993059del | CA2641247344 | RBBP8 | c.1228_1232del (p.Lys410TyrfsTer3) c.406_410del (p.Lys136TyrfsTer3) c.934_938del (p.Lys312TyrfsTer3) | gnomAD v4 |
18 | g.22993056_22993059del | CA8910035 | RBBP8 | c.1229_1232del (p.Lys410IlefsTer2) c.407_410del (p.Lys136IlefsTer2) c.935_938del (p.Lys312IlefsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.22993056A>C | CA401776957 | RBBP8 | c.1229A>C (p.Lys410Thr) c.407A>C (p.Lys136Thr) c.935A>C (p.Lys312Thr) | |
18 | g.22993056A>G | CA401776958 | RBBP8 | c.1229A>G (p.Lys410Arg) c.407A>G (p.Lys136Arg) c.935A>G (p.Lys312Arg) | |
18 | g.22993056A>T | CA401776956 | RBBP8 | c.1229A>T (p.Lys410Ile) c.407A>T (p.Lys136Ile) c.935A>T (p.Lys312Ile) | |
18 | g.22993057A= | CA2289916327 | RBBP8 | c.1230A= (p.Lys410=) c.408A= (p.Lys136=) c.936A= (p.Lys312=) | |
18 | g.22993057A>C | CA401776959 | RBBP8 | c.1230A>C (p.Lys410Asn) c.408A>C (p.Lys136Asn) c.936A>C (p.Lys312Asn) | |
18 | g.22993057A>G | CA503520955 | RBBP8 | c.1230A>G (p.Lys410=) c.408A>G (p.Lys136=) c.936A>G (p.Lys312=) | |
18 | g.22993057A>T | CA401776960 | RBBP8 | c.1230A>T (p.Lys410Asn) c.408A>T (p.Lys136Asn) c.936A>T (p.Lys312Asn) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.22993058A>C | CA401776961 | RBBP8 | c.1231A>C (p.Asn411His) c.409A>C (p.Asn137His) c.937A>C (p.Asn313His) | |
18 | g.22993058A>G | CA401776962 | RBBP8 | c.1231A>G (p.Asn411Asp) c.409A>G (p.Asn137Asp) c.937A>G (p.Asn313Asp) | |
18 | g.22993058A>T | CA401776963 | RBBP8 | c.1231A>T (p.Asn411Tyr) c.409A>T (p.Asn137Tyr) c.937A>T (p.Asn313Tyr) | |
18 | g.22993058_22993059insCCAAACACACCCAACAC | CA2811798423 | RBBP8 | c.1231_1232insCCAAACACACCCAACAC (p.Asn411ThrfsTer8) c.409_410insCCAAACACACCCAACAC (p.Asn137ThrfsTer8) c.937_938insCCAAACACACCCAACAC (p.Asn313ThrfsTer8) | |
18 | g.22993059A= | CA2289916329 | RBBP8 | c.1232A= (p.Asn411=) c.410A= (p.Asn137=) c.938A= (p.Asn313=) | |
18 | g.22993059A>C | CA401776964 | RBBP8 | c.1232A>C (p.Asn411Thr) c.410A>C (p.Asn137Thr) c.938A>C (p.Asn313Thr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.22993059A>G | CA401776965 | RBBP8 | c.1232A>G (p.Asn411Ser) c.410A>G (p.Asn137Ser) c.938A>G (p.Asn313Ser) | gnomAD v4 |
18 | g.22993059A>T | CA401776966 | RBBP8 | c.1232A>T (p.Asn411Ile) c.410A>T (p.Asn137Ile) c.938A>T (p.Asn313Ile) | |
18 | g.22993060T>A | CA401776967 | RBBP8 | c.1233T>A (p.Asn411Lys) c.411T>A (p.Asn137Lys) c.939T>A (p.Asn313Lys) | |
18 | g.22993060T>C | CA503520957 | RBBP8 | c.1233T>C (p.Asn411=) c.411T>C (p.Asn137=) c.939T>C (p.Asn313=) | |
18 | g.22993060T>G | CA401776968 | RBBP8 | c.1233T>G (p.Asn411Lys) c.411T>G (p.Asn137Lys) c.939T>G (p.Asn313Lys) | |
18 | g.22993061A= | CA2289916331 | RBBP8 | c.1234A= (p.Ile412=) c.412A= (p.Ile138=) c.940A= (p.Ile314=) | |
18 | g.22993061A>C | CA401776969 | RBBP8 | c.1234A>C (p.Ile412Leu) c.412A>C (p.Ile138Leu) c.940A>C (p.Ile314Leu) | |
18 | g.22993061A>G | CA401776970 | RBBP8 | c.1234A>G (p.Ile412Val) c.412A>G (p.Ile138Val) c.940A>G (p.Ile314Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
18 | g.22993061A>T | CA401776971 | RBBP8 | c.1234A>T (p.Ile412Leu) c.412A>T (p.Ile138Leu) c.940A>T (p.Ile314Leu) | |
18 | g.22993062T>A | CA401776974 | RBBP8 | c.1235T>A (p.Ile412Lys) c.413T>A (p.Ile138Lys) c.941T>A (p.Ile314Lys) | |
18 | g.22993062T>C | CA8910036 | RBBP8 | c.1235T>C (p.Ile412Thr) c.413T>C (p.Ile138Thr) c.941T>C (p.Ile314Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22993062T>G | CA401776972 | RBBP8 | c.1235T>G (p.Ile412Arg) c.413T>G (p.Ile138Arg) c.941T>G (p.Ile314Arg) | gnomAD v4 |
18 | g.22993062T= | CA2289916333 | RBBP8 | c.1235T= (p.Ile412=) c.413T= (p.Ile138=) c.941T= (p.Ile314=) | |
18 | g.22993063A>C | CA503520962 | RBBP8 | c.1236A>C (p.Ile412=) c.414A>C (p.Ile138=) c.942A>C (p.Ile314=) | |
18 | g.22993063A>G | CA401776976 | RBBP8 | c.1236A>G (p.Ile412Met) c.414A>G (p.Ile138Met) c.942A>G (p.Ile314Met) | |
18 | g.22993063A>T | CA503520960 | RBBP8 | c.1236A>T (p.Ile412=) c.414A>T (p.Ile138=) c.942A>T (p.Ile314=) | |
18 | g.22993064A>C | CA401776978 | RBBP8 | c.1237A>C (p.Ser413Arg) c.415A>C (p.Ser139Arg) c.943A>C (p.Ser315Arg) | |
18 | g.22993064A>G | CA401776979 | RBBP8 | c.1237A>G (p.Ser413Gly) c.415A>G (p.Ser139Gly) c.943A>G (p.Ser315Gly) | |
18 | g.22993064A>T | CA401776980 | RBBP8 | c.1237A>T (p.Ser413Cys) c.415A>T (p.Ser139Cys) c.943A>T (p.Ser315Cys) | |
18 | g.22993065G>A | CA401776982 | RBBP8 | c.1238G>A (p.Ser413Asn) c.416G>A (p.Ser139Asn) c.944G>A (p.Ser315Asn) | dbSNP |
18 | g.22993065G>C | CA401776984 | RBBP8 | c.1238G>C (p.Ser413Thr) c.416G>C (p.Ser139Thr) c.944G>C (p.Ser315Thr) | gnomAD v4 |
18 | g.22993065G= | CA2289916334 | RBBP8 | c.1238G= (p.Ser413=) c.416G= (p.Ser139=) c.944G= (p.Ser315=) | |
18 | g.22993065G>T | CA401776985 | RBBP8 | c.1238G>T (p.Ser413Ile) c.416G>T (p.Ser139Ile) c.944G>T (p.Ser315Ile) | |
18 | g.22993066T>A | CA401776987 | RBBP8 | c.1239T>A (p.Ser413Arg) c.417T>A (p.Ser139Arg) c.945T>A (p.Ser315Arg) | |
18 | g.22993066T>C | CA8910037 | RBBP8 | c.1239T>C (p.Ser413=) c.417T>C (p.Ser139=) c.945T>C (p.Ser315=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.22993066T>G | CA401776989 | RBBP8 | c.1239T>G (p.Ser413Arg) c.417T>G (p.Ser139Arg) c.945T>G (p.Ser315Arg) | |
18 | g.22993066T= | CA2289916336 | RBBP8 | c.1239T= (p.Ser413=) c.417T= (p.Ser139=) c.945T= (p.Ser315=) | |
18 | g.22993067G>A | CA401776991 | RBBP8 | c.1240G>A (p.Glu414Lys) c.418G>A (p.Glu140Lys) c.946G>A (p.Glu316Lys) | |
18 | g.22993067G>C | CA401776992 | RBBP8 | c.1240G>C (p.Glu414Gln) c.418G>C (p.Glu140Gln) c.946G>C (p.Glu316Gln) | |
18 | g.22993067G= | CA2289916337 | RBBP8 | c.1240G= (p.Glu414=) c.418G= (p.Glu140=) c.946G= (p.Glu316=) | |
18 | g.22993067G>T | CA401776994 | RBBP8 | c.1240G>T (p.Glu414Ter) c.418G>T (p.Glu140Ter) c.946G>T (p.Glu316Ter) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.22993068A>C | CA401776999 | RBBP8 | c.1241A>C (p.Glu414Ala) c.419A>C (p.Glu140Ala) c.947A>C (p.Glu316Ala) | gnomAD v4 |
18 | g.22993068A>G | CA401776997 | RBBP8 | c.1241A>G (p.Glu414Gly) c.419A>G (p.Glu140Gly) c.947A>G (p.Glu316Gly) | |
18 | g.22993068A>T | CA401776996 | RBBP8 | c.1241A>T (p.Glu414Val) c.419A>T (p.Glu140Val) c.947A>T (p.Glu316Val) | |
18 | g.22993069A= | CA2289916341 | RBBP8 | c.1242A= (p.Glu414=) c.420A= (p.Glu140=) c.948A= (p.Glu316=) | |
18 | g.22993069A>C | CA401777000 | RBBP8 | c.1242A>C (p.Glu414Asp) c.420A>C (p.Glu140Asp) c.948A>C (p.Glu316Asp) | |
18 | g.22993069A>G | CA503520966 | RBBP8 | c.1242A>G (p.Glu414=) c.420A>G (p.Glu140=) c.948A>G (p.Glu316=) | |
18 | g.22993069A>T | CA8910038 | RBBP8 | c.1242A>T (p.Glu414Asp) c.420A>T (p.Glu140Asp) c.948A>T (p.Glu316Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22993070T>A | CA8910039 | RBBP8 | c.1243T>A (p.Ser415Thr) c.421T>A (p.Ser141Thr) c.949T>A (p.Ser317Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.22993070T>C | CA401777005 | RBBP8 | c.1243T>C (p.Ser415Pro) c.421T>C (p.Ser141Pro) c.949T>C (p.Ser317Pro) | |
18 | g.22993070T>G | CA401777003 | RBBP8 | c.1243T>G (p.Ser415Ala) c.421T>G (p.Ser141Ala) c.949T>G (p.Ser317Ala) | |
18 | g.22993070T= | CA2289916342 | RBBP8 | c.1243T= (p.Ser415=) c.421T= (p.Ser141=) c.949T= (p.Ser317=) | |
18 | g.22993071C>A | CA401777006 | RBBP8 | c.1244C>A (p.Ser415Tyr) c.422C>A (p.Ser141Tyr) c.950C>A (p.Ser317Tyr) | |
18 | g.22993071C>G | CA401777008 | RBBP8 | c.1244C>G (p.Ser415Cys) c.422C>G (p.Ser141Cys) c.950C>G (p.Ser317Cys) | |
18 | g.22993071C>T | CA401777010 | RBBP8 | c.1244C>T (p.Ser415Phe) c.422C>T (p.Ser141Phe) c.950C>T (p.Ser317Phe) | gnomAD v4 |
18 | g.22993072C>A | CA503520970 | RBBP8 | c.1245C>A (p.Ser415=) c.423C>A (p.Ser141=) c.951C>A (p.Ser317=) | |
18 | g.22993072C= | CA2289916343 | RBBP8 | c.1245C= (p.Ser415=) c.423C= (p.Ser141=) c.951C= (p.Ser317=) | |
18 | g.22993072C>G | CA503520971 | RBBP8 | c.1245C>G (p.Ser415=) c.423C>G (p.Ser141=) c.951C>G (p.Ser317=) | |
18 | g.22993072C>T | CA8910040 | RBBP8 | c.1245C>T (p.Ser415=) c.423C>T (p.Ser141=) c.951C>T (p.Ser317=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.22993073C>A | CA401777012 | RBBP8 | c.1246C>A (p.Leu416Ile) c.424C>A (p.Leu142Ile) c.952C>A (p.Leu318Ile) | |
18 | g.22993073C>G | CA401777014 | RBBP8 | c.1246C>G (p.Leu416Val) c.424C>G (p.Leu142Val) c.952C>G (p.Leu318Val) | gnomAD v4 |
18 | g.22993073C>T | CA503520972 | RBBP8 | c.1246C>T (p.Leu416=) c.424C>T (p.Leu142=) c.952C>T (p.Leu318=) | |
18 | g.22993074T>A | CA401777016 | RBBP8 | c.1247T>A (p.Leu416Gln) c.425T>A (p.Leu142Gln) c.953T>A (p.Leu318Gln) | |
18 | g.22993074T>C | CA401777017 | RBBP8 | c.1247T>C (p.Leu416Pro) c.425T>C (p.Leu142Pro) c.953T>C (p.Leu318Pro) | |
18 | g.22993074T>G | CA401777018 | RBBP8 | c.1247T>G (p.Leu416Arg) c.425T>G (p.Leu142Arg) c.953T>G (p.Leu318Arg) | |
18 | g.22993075A= | CA2289916344 | RBBP8 | c.1248A= (p.Leu416=) c.426A= (p.Leu142=) c.954A= (p.Leu318=) | |
18 | g.22993075A>C | CA503520976 | RBBP8 | c.1248A>C (p.Leu416=) c.426A>C (p.Leu142=) c.954A>C (p.Leu318=) | |
18 | g.22993075A>G | CA503520974 | RBBP8 | c.1248A>G (p.Leu416=) c.426A>G (p.Leu142=) c.954A>G (p.Leu318=) | dbSNP gnomAD v4 |
18 | g.22993075A>T | CA503520975 | RBBP8 | c.1248A>T (p.Leu416=) c.426A>T (p.Leu142=) c.954A>T (p.Leu318=) | |
18 | g.22993076G>A | CA401777019 | RBBP8 | c.1249G>A (p.Gly417Ser) c.427G>A (p.Gly143Ser) c.955G>A (p.Gly319Ser) | |
18 | g.22993076G>C | CA401777021 | RBBP8 | c.1249G>C (p.Gly417Arg) c.427G>C (p.Gly143Arg) c.955G>C (p.Gly319Arg) | |
18 | g.22993076G= | CA2289916345 | RBBP8 | c.1249G= (p.Gly417=) c.427G= (p.Gly143=) c.955G= (p.Gly319=) | |
18 | g.22993076G>T | CA401777023 | RBBP8 | c.1249G>T (p.Gly417Cys) c.427G>T (p.Gly143Cys) c.955G>T (p.Gly319Cys) | dbSNP |
18 | g.22993077G>A | CA401777027 | RBBP8 | c.1250G>A (p.Gly417Asp) c.428G>A (p.Gly143Asp) c.956G>A (p.Gly319Asp) | |
18 | g.22993077G>C | CA401777024 | RBBP8 | c.1250G>C (p.Gly417Ala) c.428G>C (p.Gly143Ala) c.956G>C (p.Gly319Ala) | |
18 | g.22993077G>T | CA401777025 | RBBP8 | c.1250G>T (p.Gly417Val) c.428G>T (p.Gly143Val) c.956G>T (p.Gly319Val) | |
18 | g.22993078T>A | CA503520980 | RBBP8 | c.1251T>A (p.Gly417=) c.429T>A (p.Gly143=) c.957T>A (p.Gly319=) | |
18 | g.22993078T>C | CA503520981 | RBBP8 | c.1251T>C (p.Gly417=) c.429T>C (p.Gly143=) c.957T>C (p.Gly319=) | |
18 | g.22993078T>G | CA503520982 | RBBP8 | c.1251T>G (p.Gly417=) c.429T>G (p.Gly143=) c.957T>G (p.Gly319=) | |
18 | g.22993079G>A | CA401777029 | RBBP8 | c.1252G>A (p.Glu418Lys) c.430G>A (p.Glu144Lys) c.958G>A (p.Glu320Lys) | |
18 | g.22993079G>C | CA401777031 | RBBP8 | c.1252G>C (p.Glu418Gln) c.430G>C (p.Glu144Gln) c.958G>C (p.Glu320Gln) | |
18 | g.22993079G>T | CA401777032 | RBBP8 | c.1252G>T (p.Glu418Ter) c.430G>T (p.Glu144Ter) c.958G>T (p.Glu320Ter) | |
18 | g.22993080A>C | CA401777033 | RBBP8 | c.1253A>C (p.Glu418Ala) c.431A>C (p.Glu144Ala) c.959A>C (p.Glu320Ala) | |
18 | g.22993080A>G | CA401777035 | RBBP8 | c.1253A>G (p.Glu418Gly) c.431A>G (p.Glu144Gly) c.959A>G (p.Glu320Gly) | |
18 | g.22993080A>T | CA401777036 | RBBP8 | c.1253A>T (p.Glu418Val) c.431A>T (p.Glu144Val) c.959A>T (p.Glu320Val) | |
18 | g.22993081A>C | CA401777038 | RBBP8 | c.1254A>C (p.Glu418Asp) c.432A>C (p.Glu144Asp) c.960A>C (p.Glu320Asp) | |
18 | g.22993081A>G | CA503520987 | RBBP8 | c.1254A>G (p.Glu418=) c.432A>G (p.Glu144=) c.960A>G (p.Glu320=) | |
18 | g.22993081A>T | CA401777039 | RBBP8 | c.1254A>T (p.Glu418Asp) c.432A>T (p.Glu144Asp) c.960A>T (p.Glu320Asp) | |
18 | g.22993082C>A | CA401777041 | RBBP8 | c.1255C>A (p.Gln419Lys) c.433C>A (p.Gln145Lys) c.961C>A (p.Gln321Lys) | |
18 | g.22993082C>G | CA401777043 | RBBP8 | c.1255C>G (p.Gln419Glu) c.433C>G (p.Gln145Glu) c.961C>G (p.Gln321Glu) | |
18 | g.22993082C>T | CA401777044 | RBBP8 | c.1255C>T (p.Gln419Ter) c.433C>T (p.Gln145Ter) c.961C>T (p.Gln321Ter) | gnomAD v4 |
18 | g.22993083A= | CA2289916346 | RBBP8 | c.1256A= (p.Gln419=) c.434A= (p.Gln145=) c.962A= (p.Gln321=) | |
18 | g.22993083A>C | CA401777049 | RBBP8 | c.1256A>C (p.Gln419Pro) c.434A>C (p.Gln145Pro) c.962A>C (p.Gln321Pro) | |
18 | g.22993083A>G | CA401777048 | RBBP8 | c.1256A>G (p.Gln419Arg) c.434A>G (p.Gln145Arg) c.962A>G (p.Gln321Arg) | dbSNP gnomAD v4 |
18 | g.22993083A>T | CA401777046 | RBBP8 | c.1256A>T (p.Gln419Leu) c.434A>T (p.Gln145Leu) c.962A>T (p.Gln321Leu) | |
18 | g.22993084G>A | CA503520991 | RBBP8 | c.1257G>A (p.Gln419=) c.435G>A (p.Gln145=) c.963G>A (p.Gln321=) | |
18 | g.22993084G>C | CA401777051 | RBBP8 | c.1257G>C (p.Gln419His) c.435G>C (p.Gln145His) c.963G>C (p.Gln321His) | |
18 | g.22993084G>T | CA401777052 | RBBP8 | c.1257G>T (p.Gln419His) c.435G>T (p.Gln145His) c.963G>T (p.Gln321His) | |
18 | g.22993085A>C | CA401777053 | RBBP8 | c.1258A>C (p.Asn420His) c.436A>C (p.Asn146His) c.964A>C (p.Asn322His) | |
18 | g.22993085A>G | CA401777055 | RBBP8 | c.1258A>G (p.Asn420Asp) c.436A>G (p.Asn146Asp) c.964A>G (p.Asn322Asp) | |
18 | g.22993085A>T | CA401777056 | RBBP8 | c.1258A>T (p.Asn420Tyr) c.436A>T (p.Asn146Tyr) c.964A>T (p.Asn322Tyr) | |
18 | g.22993086A>C | CA401777058 | RBBP8 | c.1259A>C (p.Asn420Thr) c.437A>C (p.Asn146Thr) c.965A>C (p.Asn322Thr) | |
18 | g.22993086A>G | CA401777060 | RBBP8 | c.1259A>G (p.Asn420Ser) c.437A>G (p.Asn146Ser) c.965A>G (p.Asn322Ser) | gnomAD v4 |
18 | g.22993086A>T | CA401777061 | RBBP8 | c.1259A>T (p.Asn420Ile) c.437A>T (p.Asn146Ile) c.965A>T (p.Asn322Ile) | |
18 | g.22993087T>A | CA401777063 | RBBP8 | c.1260T>A (p.Asn420Lys) c.438T>A (p.Asn146Lys) c.966T>A (p.Asn322Lys) | |
18 | g.22993087T>C | CA10641134 | RBBP8 | c.1260T>C (p.Asn420=) c.438T>C (p.Asn146=) c.966T>C (p.Asn322=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.22993087T>G | CA401777065 | RBBP8 | c.1260T>G (p.Asn420Lys) c.438T>G (p.Asn146Lys) c.966T>G (p.Asn322Lys) | |
18 | g.22993087T= | CA2289916347 | RBBP8 | c.1260T= (p.Asn420=) c.438T= (p.Asn146=) c.966T= (p.Asn322=) | |
18 | g.22993088A>C | CA503520995 | RBBP8 | c.1261A>C (p.Arg421=) c.439A>C (p.Arg147=) c.967A>C (p.Arg323=) | |
18 | g.22993088A>G | CA401777067 | RBBP8 | c.1261A>G (p.Arg421Gly) c.439A>G (p.Arg147Gly) c.967A>G (p.Arg323Gly) | |
18 | g.22993088A>T | CA401777068 | RBBP8 | c.1261A>T (p.Arg421Trp) c.439A>T (p.Arg147Trp) c.967A>T (p.Arg323Trp) | |
18 | g.22993089G>A | CA401777072 | RBBP8 | c.1262G>A (p.Arg421Lys) c.440G>A (p.Arg147Lys) c.968G>A (p.Arg323Lys) | |
18 | g.22993089G>C | CA401777069 | RBBP8 | c.1262G>C (p.Arg421Thr) c.440G>C (p.Arg147Thr) c.968G>C (p.Arg323Thr) | gnomAD v4 |
18 | g.22993089G>T | CA401777071 | RBBP8 | c.1262G>T (p.Arg421Met) c.440G>T (p.Arg147Met) c.968G>T (p.Arg323Met) | |
18 | g.22993090G>A | CA503520999 | RBBP8 | c.1263G>A (p.Arg421=) c.441G>A (p.Arg147=) c.969G>A (p.Arg323=) | |
18 | g.22993090G>C | CA401777074 | RBBP8 | c.1263G>C (p.Arg421Ser) c.441G>C (p.Arg147Ser) c.969G>C (p.Arg323Ser) | |
18 | g.22993090G>T | CA401777075 | RBBP8 | c.1263G>T (p.Arg421Ser) c.441G>T (p.Arg147Ser) c.969G>T (p.Arg323Ser) | |
18 | g.22993091A>C | CA401777077 | RBBP8 | c.1264A>C (p.Thr422Pro) c.442A>C (p.Thr148Pro) c.970A>C (p.Thr324Pro) | |
18 | g.22993091A>G | CA401777078 | RBBP8 | c.1264A>G (p.Thr422Ala) c.442A>G (p.Thr148Ala) c.970A>G (p.Thr324Ala) | |
18 | g.22993091A>T | CA401777080 | RBBP8 | c.1264A>T (p.Thr422Ser) c.442A>T (p.Thr148Ser) c.970A>T (p.Thr324Ser) | |
18 | g.22993092C>A | CA401777082 | RBBP8 | c.1265C>A (p.Thr422Asn) c.443C>A (p.Thr148Asn) c.971C>A (p.Thr324Asn) | |
18 | g.22993092C= | CA2289916348 | RBBP8 | c.1265C= (p.Thr422=) c.443C= (p.Thr148=) c.971C= (p.Thr324=) | |
18 | g.22993092C>G | CA401777084 | RBBP8 | c.1265C>G (p.Thr422Ser) c.443C>G (p.Thr148Ser) c.971C>G (p.Thr324Ser) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.22993092C>T | CA401777085 | RBBP8 | c.1265C>T (p.Thr422Ile) c.443C>T (p.Thr148Ile) c.971C>T (p.Thr324Ile) | |
18 | g.22993093T>A | CA503521003 | RBBP8 | c.1266T>A (p.Thr422=) c.444T>A (p.Thr148=) c.972T>A (p.Thr324=) | gnomAD v4 |
18 | g.22993093T>C | CA503521004 | RBBP8 | c.1266T>C (p.Thr422=) c.444T>C (p.Thr148=) c.972T>C (p.Thr324=) | gnomAD v4 |
18 | g.22993093T>G | CA503521005 | RBBP8 | c.1266T>G (p.Thr422=) c.444T>G (p.Thr148=) c.972T>G (p.Thr324=) | |
18 | g.22993094G>A | CA401777087 | RBBP8 | c.1267G>A (p.Glu423Lys) c.445G>A (p.Glu149Lys) c.973G>A (p.Glu325Lys) | gnomAD v4 |
18 | g.22993094G>C | CA401777088 | RBBP8 | c.1267G>C (p.Glu423Gln) c.445G>C (p.Glu149Gln) c.973G>C (p.Glu325Gln) | |
18 | g.22993094G>T | CA401777090 | RBBP8 | c.1267G>T (p.Glu423Ter) c.445G>T (p.Glu149Ter) c.973G>T (p.Glu325Ter) | |
18 | g.22993095A= | CA2289916349 | RBBP8 | c.1268A= (p.Glu423=) c.446A= (p.Glu149=) c.974A= (p.Glu325=) | |
18 | g.22993095A>C | CA401777095 | RBBP8 | c.1268A>C (p.Glu423Ala) c.446A>C (p.Glu149Ala) c.974A>C (p.Glu325Ala) | |
18 | g.22993095A>G | CA401777093 | RBBP8 | c.1268A>G (p.Glu423Gly) c.446A>G (p.Glu149Gly) c.974A>G (p.Glu325Gly) | dbSNP |
18 | g.22993095A>T | CA401777092 | RBBP8 | c.1268A>T (p.Glu423Val) c.446A>T (p.Glu149Val) c.974A>T (p.Glu325Val) | |
18 | g.22993096G>A | CA297050944 | RBBP8 | c.1269G>A (p.Glu423=) c.447G>A (p.Glu149=) c.975G>A (p.Glu325=) | dbSNP gnomAD v4 |
18 | g.22993096G>C | CA401777096 | RBBP8 | c.1269G>C (p.Glu423Asp) c.447G>C (p.Glu149Asp) c.975G>C (p.Glu325Asp) | |
18 | g.22993096G= | CA2289916350 | RBBP8 | c.1269G= (p.Glu423=) c.447G= (p.Glu149=) c.975G= (p.Glu325=) | |
18 | g.22993096G>T | CA401777098 | RBBP8 | c.1269G>T (p.Glu423Asp) c.447G>T (p.Glu149Asp) c.975G>T (p.Glu325Asp) | |
18 | g.22993097T>A | CA401777100 | RBBP8 | c.1270T>A (p.Tyr424Asn) c.448T>A (p.Tyr150Asn) c.976T>A (p.Tyr326Asn) | |
18 | g.22993097T>C | CA401777102 | RBBP8 | c.1270T>C (p.Tyr424His) c.448T>C (p.Tyr150His) c.976T>C (p.Tyr326His) | |
18 | g.22993097T>G | CA401777103 | RBBP8 | c.1270T>G (p.Tyr424Asp) c.448T>G (p.Tyr150Asp) c.976T>G (p.Tyr326Asp) | |
18 | g.22993097dup | CA8910041 | RBBP8 | c.1270dup (p.Tyr424LeufsTer3) c.448dup (p.Tyr150LeufsTer3) c.976dup (p.Tyr326LeufsTer3) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22993098A>C | CA401777105 | RBBP8 | c.1271A>C (p.Tyr424Ser) c.449A>C (p.Tyr150Ser) c.977A>C (p.Tyr326Ser) | |
18 | g.22993098A>G | CA401777106 | RBBP8 | c.1271A>G (p.Tyr424Cys) c.449A>G (p.Tyr150Cys) c.977A>G (p.Tyr326Cys) | dbSNP |
18 | g.22993098A>T | CA401777107 | RBBP8 | c.1271A>T (p.Tyr424Phe) c.449A>T (p.Tyr150Phe) c.977A>T (p.Tyr326Phe) | |
18 | g.22993099C>A | CA401777110 | RBBP8 | c.1272C>A (p.Tyr424Ter) c.450C>A (p.Tyr150Ter) c.978C>A (p.Tyr326Ter) | |
18 | g.22993099C= | CA2289916352 | RBBP8 | c.1272C= (p.Tyr424=) c.450C= (p.Tyr150=) c.978C= (p.Tyr326=) | |
18 | g.22993099C>G | CA401777111 | RBBP8 | c.1272C>G (p.Tyr424Ter) c.450C>G (p.Tyr150Ter) c.978C>G (p.Tyr326Ter) | |
18 | g.22993099C>T | CA8910042 | RBBP8 | c.1272C>T (p.Tyr424=) c.450C>T (p.Tyr150=) c.978C>T (p.Tyr326=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22993100G>A | CA8910043 | RBBP8 | c.1273G>A (p.Gly425Ser) c.451G>A (p.Gly151Ser) c.979G>A (p.Gly327Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22993100G>C | CA401777114 | RBBP8 | c.1273G>C (p.Gly425Arg) c.451G>C (p.Gly151Arg) c.979G>C (p.Gly327Arg) | |
18 | g.22993100G= | CA2289916354 | RBBP8 | c.1273G= (p.Gly425=) c.451G= (p.Gly151=) c.979G= (p.Gly327=) | |
18 | g.22993100G>T | CA401777115 | RBBP8 | c.1273G>T (p.Gly425Cys) c.451G>T (p.Gly151Cys) c.979G>T (p.Gly327Cys) | |
18 | g.22993101G>A | CA401777120 | RBBP8 | c.1274G>A (p.Gly425Asp) c.452G>A (p.Gly151Asp) c.980G>A (p.Gly327Asp) | gnomAD v4 |
18 | g.22993101G>C | CA401777117 | RBBP8 | c.1274G>C (p.Gly425Ala) c.452G>C (p.Gly151Ala) c.980G>C (p.Gly327Ala) | |
18 | g.22993101G>T | CA401777119 | RBBP8 | c.1274G>T (p.Gly425Val) c.452G>T (p.Gly151Val) c.980G>T (p.Gly327Val) | gnomAD v4 |
18 | g.22993102T>A | CA503521011 | RBBP8 | c.1275T>A (p.Gly425=) c.453T>A (p.Gly151=) c.981T>A (p.Gly327=) | |
18 | g.22993102T>C | CA503521012 | RBBP8 | c.1275T>C (p.Gly425=) c.453T>C (p.Gly151=) c.981T>C (p.Gly327=) | |
18 | g.22993102T>G | CA503521013 | RBBP8 | c.1275T>G (p.Gly425=) c.453T>G (p.Gly151=) c.981T>G (p.Gly327=) | |
18 | g.22993103A>C | CA401777122 | RBBP8 | c.1276A>C (p.Lys426Gln) c.454A>C (p.Lys152Gln) c.982A>C (p.Lys328Gln) | |
18 | g.22993103A>G | CA401777124 | RBBP8 | c.1276A>G (p.Lys426Glu) c.454A>G (p.Lys152Glu) c.982A>G (p.Lys328Glu) | |
18 | g.22993103A>T | CA401777125 | RBBP8 | c.1276A>T (p.Lys426Ter) c.454A>T (p.Lys152Ter) c.982A>T (p.Lys328Ter) | |
18 | g.22993104A>C | CA401777127 | RBBP8 | c.1277A>C (p.Lys426Thr) c.455A>C (p.Lys152Thr) c.983A>C (p.Lys328Thr) | |
18 | g.22993104A>G | CA401777128 | RBBP8 | c.1277A>G (p.Lys426Arg) c.455A>G (p.Lys152Arg) c.983A>G (p.Lys328Arg) | |
18 | g.22993104A>T | CA401777129 | RBBP8 | c.1277A>T (p.Lys426Ile) c.455A>T (p.Lys152Ile) c.983A>T (p.Lys328Ile) | |
18 | g.22993105A>C | CA401777130 | RBBP8 | c.1278A>C (p.Lys426Asn) c.456A>C (p.Lys152Asn) c.984A>C (p.Lys328Asn) | |
18 | g.22993105A>G | CA503521017 | RBBP8 | c.1278A>G (p.Lys426=) c.456A>G (p.Lys152=) c.984A>G (p.Lys328=) | |
18 | g.22993105A>T | CA401777131 | RBBP8 | c.1278A>T (p.Lys426Asn) c.456A>T (p.Lys152Asn) c.984A>T (p.Lys328Asn) | |
18 | g.22993106G>A | CA401777133 | RBBP8 | c.1279G>A (p.Asp427Asn) c.457G>A (p.Asp153Asn) c.985G>A (p.Asp329Asn) | |
18 | g.22993106G>C | CA401777134 | RBBP8 | c.1279G>C (p.Asp427His) c.457G>C (p.Asp153His) c.985G>C (p.Asp329His) | |
18 | g.22993106G>T | CA401777136 | RBBP8 | c.1279G>T (p.Asp427Tyr) c.457G>T (p.Asp153Tyr) c.985G>T (p.Asp329Tyr) | gnomAD v4 |
18 | g.22993107A= | CA2289916355 | RBBP8 | c.1280A= (p.Asp427=) c.458A= (p.Asp153=) c.986A= (p.Asp329=) | |
18 | g.22993107A>C | CA401777139 | RBBP8 | c.1280A>C (p.Asp427Ala) c.458A>C (p.Asp153Ala) c.986A>C (p.Asp329Ala) | |
18 | g.22993107A>G | CA8910044 | RBBP8 | c.1280A>G (p.Asp427Gly) c.458A>G (p.Asp153Gly) c.986A>G (p.Asp329Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.22993107A>T | CA401777137 | RBBP8 | c.1280A>T (p.Asp427Val) c.458A>T (p.Asp153Val) c.986A>T (p.Asp329Val) | |
18 | g.22993108T>A | CA401777141 | RBBP8 | c.1281T>A (p.Asp427Glu) c.459T>A (p.Asp153Glu) c.987T>A (p.Asp329Glu) | |
18 | g.22993108T>C | CA503521021 | RBBP8 | c.1281T>C (p.Asp427=) c.459T>C (p.Asp153=) c.987T>C (p.Asp329=) | |
18 | g.22993108T>G | CA401777142 | RBBP8 | c.1281T>G (p.Asp427Glu) c.459T>G (p.Asp153Glu) c.987T>G (p.Asp329Glu) | |
18 | g.22993109T>A | CA401777144 | RBBP8 | c.1282T>A (p.Ser428Thr) c.460T>A (p.Ser154Thr) c.988T>A (p.Ser330Thr) | |
18 | g.22993109T>C | CA401777145 | RBBP8 | c.1282T>C (p.Ser428Pro) c.460T>C (p.Ser154Pro) c.988T>C (p.Ser330Pro) | |
18 | g.22993109T>G | CA401777146 | RBBP8 | c.1282T>G (p.Ser428Ala) c.460T>G (p.Ser154Ala) c.988T>G (p.Ser330Ala) | |
18 | g.22993110C>A | CA401777148 | RBBP8 | c.1283C>A (p.Ser428Tyr) c.461C>A (p.Ser154Tyr) c.989C>A (p.Ser330Tyr) | |
18 | g.22993110C= | CA2289916358 | RBBP8 | c.1283C= (p.Ser428=) c.461C= (p.Ser154=) c.989C= (p.Ser330=) | |
18 | g.22993110C>G | CA401777149 | RBBP8 | c.1283C>G (p.Ser428Cys) c.461C>G (p.Ser154Cys) c.989C>G (p.Ser330Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22993110C>T | CA401777151 | RBBP8 | c.1283C>T (p.Ser428Phe) c.461C>T (p.Ser154Phe) c.989C>T (p.Ser330Phe) | gnomAD v4 |
18 | g.22993111T>A | CA503521143 | RBBP8 | c.1284T>A (p.Ser428=) c.462T>A (p.Ser154=) c.990T>A (p.Ser330=) | |
18 | g.22993111T>C | CA503521144 | RBBP8 | c.1284T>C (p.Ser428=) c.462T>C (p.Ser154=) c.990T>C (p.Ser330=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.22993111T>G | CA503521145 | RBBP8 | c.1284T>G (p.Ser428=) c.462T>G (p.Ser154=) c.990T>G (p.Ser330=) | |
18 | g.22993111T= | CA2289916360 | RBBP8 | c.1284T= (p.Ser428=) c.462T= (p.Ser154=) c.990T= (p.Ser330=) | |
18 | g.22993112A>C | CA401777152 | RBBP8 | c.1285A>C (p.Asn429His) c.463A>C (p.Asn155His) c.991A>C (p.Asn331His) | |
18 | g.22993112A>G | CA401777154 | RBBP8 | c.1285A>G (p.Asn429Asp) c.463A>G (p.Asn155Asp) c.991A>G (p.Asn331Asp) | gnomAD v4 |
18 | g.22993112A>T | CA401777155 | RBBP8 | c.1285A>T (p.Asn429Tyr) c.463A>T (p.Asn155Tyr) c.991A>T (p.Asn331Tyr) | |
18 | g.22993113A>C | CA401777157 | RBBP8 | c.1286A>C (p.Asn429Thr) c.464A>C (p.Asn155Thr) c.992A>C (p.Asn331Thr) | |
18 | g.22993113A>G | CA401777158 | RBBP8 | c.1286A>G (p.Asn429Ser) c.464A>G (p.Asn155Ser) c.992A>G (p.Asn331Ser) | |
18 | g.22993113A>T | CA401777160 | RBBP8 | c.1286A>T (p.Asn429Ile) c.464A>T (p.Asn155Ile) c.992A>T (p.Asn331Ile) | |
18 | g.22993114C>A | CA401777161 | RBBP8 | c.1287C>A (p.Asn429Lys) c.465C>A (p.Asn155Lys) c.993C>A (p.Asn331Lys) | |
18 | g.22993114C>G | CA401777163 | RBBP8 | c.1287C>G (p.Asn429Lys) c.465C>G (p.Asn155Lys) c.993C>G (p.Asn331Lys) | |
18 | g.22993114C>T | CA503521152 | RBBP8 | c.1287C>T (p.Asn429=) c.465C>T (p.Asn155=) c.993C>T (p.Asn331=) | gnomAD v4 |
18 | g.22993115A= | CA2289916362 | RBBP8 | c.1288A= (p.Thr430=) c.466A= (p.Thr156=) c.994A= (p.Thr332=) | |
18 | g.22993115A>C | CA401777165 | RBBP8 | c.1288A>C (p.Thr430Pro) c.466A>C (p.Thr156Pro) c.994A>C (p.Thr332Pro) | |
18 | g.22993115A>G | CA401777166 | RBBP8 | c.1288A>G (p.Thr430Ala) c.466A>G (p.Thr156Ala) c.994A>G (p.Thr332Ala) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.22993115A>T | CA401777168 | RBBP8 | c.1288A>T (p.Thr430Ser) c.466A>T (p.Thr156Ser) c.994A>T (p.Thr332Ser) | |
18 | g.22993116C>A | CA401777170 | RBBP8 | c.1289C>A (p.Thr430Asn) c.467C>A (p.Thr156Asn) c.995C>A (p.Thr332Asn) | |
18 | g.22993116C= | CA2289916363 | RBBP8 | c.1289C= (p.Thr430=) c.467C= (p.Thr156=) c.995C= (p.Thr332=) | |
18 | g.22993116C>G | CA401777172 | RBBP8 | c.1289C>G (p.Thr430Ser) c.467C>G (p.Thr156Ser) c.995C>G (p.Thr332Ser) | |
18 | g.22993116C>T | CA401777173 | RBBP8 | c.1289C>T (p.Thr430Ile) c.467C>T (p.Thr156Ile) c.995C>T (p.Thr332Ile) | dbSNP gnomAD v2 |
18 | g.22993117T>A | CA8910045 | RBBP8 | c.1290T>A (p.Thr430=) c.468T>A (p.Thr156=) c.996T>A (p.Thr332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.22993117T>C | CA503521155 | RBBP8 | c.1290T>C (p.Thr430=) c.468T>C (p.Thr156=) c.996T>C (p.Thr332=) | |
18 | g.22993117T>G | CA503521156 | RBBP8 | c.1290T>G (p.Thr430=) c.468T>G (p.Thr156=) c.996T>G (p.Thr332=) | |
18 | g.22993117T= | CA2289916366 | RBBP8 | c.1290T= (p.Thr430=) c.468T= (p.Thr156=) c.996T= (p.Thr332=) |