Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.22993014A>CCA401776842RBBP8c.1187A>C (p.Lys396Thr)
c.365A>C (p.Lys122Thr)
c.893A>C (p.Lys298Thr)
 gnomAD v4
18g.22993014A>GCA401776844RBBP8c.1187A>G (p.Lys396Arg)
c.365A>G (p.Lys122Arg)
c.893A>G (p.Lys298Arg)
18g.22993014A>TCA401776846RBBP8c.1187A>T (p.Lys396Met)
c.365A>T (p.Lys122Met)
c.893A>T (p.Lys298Met)
18g.22993015G>ACA503520915RBBP8c.1188G>A (p.Lys396=)
c.366G>A (p.Lys122=)
c.894G>A (p.Lys298=)
18g.22993015G>CCA401776847RBBP8c.1188G>C (p.Lys396Asn)
c.366G>C (p.Lys122Asn)
c.894G>C (p.Lys298Asn)
18g.22993015G>TCA401776849RBBP8c.1188G>T (p.Lys396Asn)
c.366G>T (p.Lys122Asn)
c.894G>T (p.Lys298Asn)
18g.22993015_22993018delinsGATCCA2289916282RBBP8c.1188_1191delinsGATC (p.Lys396=)
c.366_369delinsGATC (p.Lys122=)
c.894_897delinsGATC (p.Lys298=)
18g.22993016A>CCA401776851RBBP8c.1189A>C (p.Ile397Leu)
c.367A>C (p.Ile123Leu)
c.895A>C (p.Ile299Leu)
18g.22993016A>GCA401776852RBBP8c.1189A>G (p.Ile397Val)
c.367A>G (p.Ile123Val)
c.895A>G (p.Ile299Val)
 gnomAD v4
18g.22993016A>TCA401776853RBBP8c.1189A>T (p.Ile397Phe)
c.367A>T (p.Ile123Phe)
c.895A>T (p.Ile299Phe)
18g.22993018_22993020delCA2289916284RBBP8c.1191_1193del (p.Ile398del)
c.369_371del (p.Ile124del)
c.897_899del (p.Ile300del)
 dbSNP
18g.22993017T>ACA401776857RBBP8c.1190T>A (p.Ile397Asn)
c.368T>A (p.Ile123Asn)
c.896T>A (p.Ile299Asn)
18g.22993017T>CCA401776859RBBP8c.1190T>C (p.Ile397Thr)
c.368T>C (p.Ile123Thr)
c.896T>C (p.Ile299Thr)
18g.22993017T>GCA401776855RBBP8c.1190T>G (p.Ile397Ser)
c.368T>G (p.Ile123Ser)
c.896T>G (p.Ile299Ser)
18g.22993018C>ACA503520916RBBP8c.1191C>A (p.Ile397=)
c.369C>A (p.Ile123=)
c.897C>A (p.Ile299=)
18g.22993018C>GCA401776860RBBP8c.1191C>G (p.Ile397Met)
c.369C>G (p.Ile123Met)
c.897C>G (p.Ile299Met)
18g.22993018C>TCA503520917RBBP8c.1191C>T (p.Ile397=)
c.369C>T (p.Ile123=)
c.897C>T (p.Ile299=)
18g.22993019A=CA2289916286RBBP8c.1192A= (p.Ile398=)
c.370A= (p.Ile124=)
c.898A= (p.Ile300=)
18g.22993019A>CCA401776862RBBP8c.1192A>C (p.Ile398Leu)
c.370A>C (p.Ile124Leu)
c.898A>C (p.Ile300Leu)
18g.22993019A>GCA401776865RBBP8c.1192A>G (p.Ile398Val)
c.370A>G (p.Ile124Val)
c.898A>G (p.Ile300Val)
 gnomAD v4
18g.22993019A>TCA401776863RBBP8c.1192A>T (p.Ile398Phe)
c.370A>T (p.Ile124Phe)
c.898A>T (p.Ile300Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.22993020T>ACA401776867RBBP8c.1193T>A (p.Ile398Asn)
c.371T>A (p.Ile124Asn)
c.899T>A (p.Ile300Asn)
 gnomAD v4
18g.22993020T>CCA401776869RBBP8c.1193T>C (p.Ile398Thr)
c.371T>C (p.Ile124Thr)
c.899T>C (p.Ile300Thr)
18g.22993020T>GCA401776868RBBP8c.1193T>G (p.Ile398Ser)
c.371T>G (p.Ile124Ser)
c.899T>G (p.Ile300Ser)
18g.22993021T>ACA503520918RBBP8c.1194T>A (p.Ile398=)
c.372T>A (p.Ile124=)
c.900T>A (p.Ile300=)
18g.22993021T>CCA503520919RBBP8c.1194T>C (p.Ile398=)
c.372T>C (p.Ile124=)
c.900T>C (p.Ile300=)
18g.22993021T>GCA8910029RBBP8c.1194T>G (p.Ile398Met)
c.372T>G (p.Ile124Met)
c.900T>G (p.Ile300Met)
 dbSNP ExAC gnomAD v2
18g.22993021T=CA2289916290RBBP8c.1194T= (p.Ile398=)
c.372T= (p.Ile124=)
c.900T= (p.Ile300=)
18g.22993022A=CA2289916293RBBP8c.1195A= (p.Ile399=)
c.373A= (p.Ile125=)
c.901A= (p.Ile301=)
18g.22993022A>CCA401776873RBBP8c.1195A>C (p.Ile399Leu)
c.373A>C (p.Ile125Leu)
c.901A>C (p.Ile301Leu)
18g.22993022A>GCA297050869RBBP8c.1195A>G (p.Ile399Val)
c.373A>G (p.Ile125Val)
c.901A>G (p.Ile301Val)
 dbSNP
18g.22993022A>TCA401776872RBBP8c.1195A>T (p.Ile399Phe)
c.373A>T (p.Ile125Phe)
c.901A>T (p.Ile301Phe)
18g.22993023T>ACA401776876RBBP8c.1196T>A (p.Ile399Asn)
c.374T>A (p.Ile125Asn)
c.902T>A (p.Ile301Asn)
18g.22993023T>CCA401776877RBBP8c.1196T>C (p.Ile399Thr)
c.374T>C (p.Ile125Thr)
c.902T>C (p.Ile301Thr)
18g.22993023T>GCA401776878RBBP8c.1196T>G (p.Ile399Ser)
c.374T>G (p.Ile125Ser)
c.902T>G (p.Ile301Ser)
18g.22993024C>ACA503520920RBBP8c.1197C>A (p.Ile399=)
c.375C>A (p.Ile125=)
c.903C>A (p.Ile301=)
18g.22993024C=CA2289916296RBBP8c.1197C= (p.Ile399=)
c.375C= (p.Ile125=)
c.903C= (p.Ile301=)
18g.22993024C>GCA401776880RBBP8c.1197C>G (p.Ile399Met)
c.375C>G (p.Ile125Met)
c.903C>G (p.Ile301Met)
18g.22993024C>TCA297050871RBBP8c.1197C>T (p.Ile399=)
c.375C>T (p.Ile125=)
c.903C>T (p.Ile301=)
 dbSNP
18g.22993025C>ACA401776882RBBP8c.1198C>A (p.Gln400Lys)
c.376C>A (p.Gln126Lys)
c.904C>A (p.Gln302Lys)
18g.22993025C>GCA401776884RBBP8c.1198C>G (p.Gln400Glu)
c.376C>G (p.Gln126Glu)
c.904C>G (p.Gln302Glu)
18g.22993025C>TCA401776886RBBP8c.1198C>T (p.Gln400Ter)
c.376C>T (p.Gln126Ter)
c.904C>T (p.Gln302Ter)
18g.22993026A>CCA401776887RBBP8c.1199A>C (p.Gln400Pro)
c.377A>C (p.Gln126Pro)
c.905A>C (p.Gln302Pro)
18g.22993026A>GCA401776888RBBP8c.1199A>G (p.Gln400Arg)
c.377A>G (p.Gln126Arg)
c.905A>G (p.Gln302Arg)
 gnomAD v4
18g.22993026A>TCA401776889RBBP8c.1199A>T (p.Gln400Leu)
c.377A>T (p.Gln126Leu)
c.905A>T (p.Gln302Leu)
18g.22993027G>ACA503520921RBBP8c.1200G>A (p.Gln400=)
c.378G>A (p.Gln126=)
c.906G>A (p.Gln302=)
18g.22993027G>CCA401776890RBBP8c.1200G>C (p.Gln400His)
c.378G>C (p.Gln126His)
c.906G>C (p.Gln302His)
18g.22993027G>TCA401776891RBBP8c.1200G>T (p.Gln400His)
c.378G>T (p.Gln126His)
c.906G>T (p.Gln302His)
18g.22993028T>ACA401776892RBBP8c.1201T>A (p.Ser401Thr)
c.379T>A (p.Ser127Thr)
c.907T>A (p.Ser303Thr)
18g.22993028T>CCA401776893RBBP8c.1201T>C (p.Ser401Pro)
c.379T>C (p.Ser127Pro)
c.907T>C (p.Ser303Pro)
18g.22993028T>GCA401776894RBBP8c.1201T>G (p.Ser401Ala)
c.379T>G (p.Ser127Ala)
c.907T>G (p.Ser303Ala)
18g.22993029C>ACA401776895RBBP8c.1202C>A (p.Ser401Ter)
c.380C>A (p.Ser127Ter)
c.908C>A (p.Ser303Ter)
 gnomAD v4
18g.22993029C>GCA401776896RBBP8c.1202C>G (p.Ser401Ter)
c.380C>G (p.Ser127Ter)
c.908C>G (p.Ser303Ter)
18g.22993029C>TCA401776897RBBP8c.1202C>T (p.Ser401Leu)
c.380C>T (p.Ser127Leu)
c.908C>T (p.Ser303Leu)
18g.22993030A=CA2289916298RBBP8c.1203A= (p.Ser401=)
c.381A= (p.Ser127=)
c.909A= (p.Ser303=)
18g.22993030A>CCA503520922RBBP8c.1203A>C (p.Ser401=)
c.381A>C (p.Ser127=)
c.909A>C (p.Ser303=)
18g.22993030A>GCA503520923RBBP8c.1203A>G (p.Ser401=)
c.381A>G (p.Ser127=)
c.909A>G (p.Ser303=)
 gnomAD v4
18g.22993030A>TCA8910030RBBP8c.1203A>T (p.Ser401=)
c.381A>T (p.Ser127=)
c.909A>T (p.Ser303=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22993031T>ACA401776898RBBP8c.1204T>A (p.Ser402Thr)
c.382T>A (p.Ser128Thr)
c.910T>A (p.Ser304Thr)
18g.22993031T>CCA401776899RBBP8c.1204T>C (p.Ser402Pro)
c.382T>C (p.Ser128Pro)
c.910T>C (p.Ser304Pro)
18g.22993031T>GCA401776900RBBP8c.1204T>G (p.Ser402Ala)
c.382T>G (p.Ser128Ala)
c.910T>G (p.Ser304Ala)
18g.22993032C>ACA8910031RBBP8c.1205C>A (p.Ser402Tyr)
c.383C>A (p.Ser128Tyr)
c.911C>A (p.Ser304Tyr)
 dbSNP ExAC gnomAD v2
18g.22993032C=CA2289916301RBBP8c.1205C= (p.Ser402=)
c.383C= (p.Ser128=)
c.911C= (p.Ser304=)
18g.22993032C>GCA401776902RBBP8c.1205C>G (p.Ser402Cys)
c.383C>G (p.Ser128Cys)
c.911C>G (p.Ser304Cys)
 dbSNP gnomAD v3 gnomAD v4
18g.22993032C>TCA401776901RBBP8c.1205C>T (p.Ser402Phe)
c.383C>T (p.Ser128Phe)
c.911C>T (p.Ser304Phe)
18g.22993033T>ACA503520925RBBP8c.1206T>A (p.Ser402=)
c.384T>A (p.Ser128=)
c.912T>A (p.Ser304=)
18g.22993033T>CCA503520926RBBP8c.1206T>C (p.Ser402=)
c.384T>C (p.Ser128=)
c.912T>C (p.Ser304=)
18g.22993033T>GCA503520924RBBP8c.1206T>G (p.Ser402=)
c.384T>G (p.Ser128=)
c.912T>G (p.Ser304=)
18g.22993034A>CCA401776903RBBP8c.1207A>C (p.Asn403His)
c.385A>C (p.Asn129His)
c.913A>C (p.Asn305His)
18g.22993034A>GCA401776904RBBP8c.1207A>G (p.Asn403Asp)
c.385A>G (p.Asn129Asp)
c.913A>G (p.Asn305Asp)
18g.22993034A>TCA401776905RBBP8c.1207A>T (p.Asn403Tyr)
c.385A>T (p.Asn129Tyr)
c.913A>T (p.Asn305Tyr)
18g.22993035A=CA2289916303RBBP8c.1208A= (p.Asn403=)
c.386A= (p.Asn129=)
c.914A= (p.Asn305=)
18g.22993035A>CCA401776906RBBP8c.1208A>C (p.Asn403Thr)
c.386A>C (p.Asn129Thr)
c.914A>C (p.Asn305Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.22993035A>GCA401776907RBBP8c.1208A>G (p.Asn403Ser)
c.386A>G (p.Asn129Ser)
c.914A>G (p.Asn305Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.22993035A>TCA401776908RBBP8c.1208A>T (p.Asn403Ile)
c.386A>T (p.Asn129Ile)
c.914A>T (p.Asn305Ile)
18g.22993036T>ACA401776909RBBP8c.1209T>A (p.Asn403Lys)
c.387T>A (p.Asn129Lys)
c.915T>A (p.Asn305Lys)
18g.22993036T>CCA503520927RBBP8c.1209T>C (p.Asn403=)
c.387T>C (p.Asn129=)
c.915T>C (p.Asn305=)
18g.22993036T>GCA401776910RBBP8c.1209T>G (p.Asn403Lys)
c.387T>G (p.Asn129Lys)
c.915T>G (p.Asn305Lys)
18g.22993037A>CCA401776911RBBP8c.1210A>C (p.Lys404Gln)
c.388A>C (p.Lys130Gln)
c.916A>C (p.Lys306Gln)
18g.22993037A>GCA401776912RBBP8c.1210A>G (p.Lys404Glu)
c.388A>G (p.Lys130Glu)
c.916A>G (p.Lys306Glu)
18g.22993037A>TCA401776913RBBP8c.1210A>T (p.Lys404Ter)
c.388A>T (p.Lys130Ter)
c.916A>T (p.Lys306Ter)
18g.22993038A>CCA401776916RBBP8c.1211A>C (p.Lys404Thr)
c.389A>C (p.Lys130Thr)
c.917A>C (p.Lys306Thr)
18g.22993038A>GCA401776915RBBP8c.1211A>G (p.Lys404Arg)
c.389A>G (p.Lys130Arg)
c.917A>G (p.Lys306Arg)
18g.22993038A>TCA401776914RBBP8c.1211A>T (p.Lys404Ile)
c.389A>T (p.Lys130Ile)
c.917A>T (p.Lys306Ile)
18g.22993039A=CA2289916307RBBP8c.1212A= (p.Lys404=)
c.390A= (p.Lys130=)
c.918A= (p.Lys306=)
18g.22993039A>CCA401776917RBBP8c.1212A>C (p.Lys404Asn)
c.390A>C (p.Lys130Asn)
c.918A>C (p.Lys306Asn)
18g.22993039A>GCA503520929RBBP8c.1212A>G (p.Lys404=)
c.390A>G (p.Lys130=)
c.918A>G (p.Lys306=)
 dbSNP gnomAD v4
18g.22993039A>TCA401776918RBBP8c.1212A>T (p.Lys404Asn)
c.390A>T (p.Lys130Asn)
c.918A>T (p.Lys306Asn)
18g.22993040C>ACA401776919RBBP8c.1213C>A (p.Gln405Lys)
c.391C>A (p.Gln131Lys)
c.919C>A (p.Gln307Lys)
18g.22993040C>GCA401776920RBBP8c.1213C>G (p.Gln405Glu)
c.391C>G (p.Gln131Glu)
c.919C>G (p.Gln307Glu)
18g.22993040C>TCA401776921RBBP8c.1213C>T (p.Gln405Ter)
c.391C>T (p.Gln131Ter)
c.919C>T (p.Gln307Ter)
 gnomAD v4
18g.22993041A>CCA401776922RBBP8c.1214A>C (p.Gln405Pro)
c.392A>C (p.Gln131Pro)
c.920A>C (p.Gln307Pro)
18g.22993041A>GCA401776923RBBP8c.1214A>G (p.Gln405Arg)
c.392A>G (p.Gln131Arg)
c.920A>G (p.Gln307Arg)
18g.22993041A>TCA401776924RBBP8c.1214A>T (p.Gln405Leu)
c.392A>T (p.Gln131Leu)
c.920A>T (p.Gln307Leu)
18g.22993042G>ACA503520931RBBP8c.1215G>A (p.Gln405=)
c.393G>A (p.Gln131=)
c.921G>A (p.Gln307=)
18g.22993042G>CCA401776925RBBP8c.1215G>C (p.Gln405His)
c.393G>C (p.Gln131His)
c.921G>C (p.Gln307His)
18g.22993042G>TCA401776926RBBP8c.1215G>T (p.Gln405His)
c.393G>T (p.Gln131His)
c.921G>T (p.Gln307His)
18g.22993043A=CA2289916309RBBP8c.1216A= (p.Ile406=)
c.394A= (p.Ile132=)
c.922A= (p.Ile308=)
18g.22993043A>CCA401776927RBBP8c.1216A>C (p.Ile406Leu)
c.394A>C (p.Ile132Leu)
c.922A>C (p.Ile308Leu)
18g.22993043A>GCA401776928RBBP8c.1216A>G (p.Ile406Val)
c.394A>G (p.Ile132Val)
c.922A>G (p.Ile308Val)
 dbSNP gnomAD v4
18g.22993043A>TCA401776929RBBP8c.1216A>T (p.Ile406Leu)
c.394A>T (p.Ile132Leu)
c.922A>T (p.Ile308Leu)
 gnomAD v4
18g.22993044T>ACA401776931RBBP8c.1217T>A (p.Ile406Lys)
c.395T>A (p.Ile132Lys)
c.923T>A (p.Ile308Lys)
18g.22993044T>CCA401776932RBBP8c.1217T>C (p.Ile406Thr)
c.395T>C (p.Ile132Thr)
c.923T>C (p.Ile308Thr)
18g.22993044T>GCA401776930RBBP8c.1217T>G (p.Ile406Arg)
c.395T>G (p.Ile132Arg)
c.923T>G (p.Ile308Arg)
18g.22993046_22993049delCA2641247342RBBP8c.1219_1222del (p.Leu407Ter)
c.397_400del (p.Leu133Ter)
c.925_928del (p.Leu309Ter)
 gnomAD v4
18g.22993045A=CA2289916311RBBP8c.1218A= (p.Ile406=)
c.396A= (p.Ile132=)
c.924A= (p.Ile308=)
18g.22993045A>CCA503520934RBBP8c.1218A>C (p.Ile406=)
c.396A>C (p.Ile132=)
c.924A>C (p.Ile308=)
18g.22993045A>GCA401776933RBBP8c.1218A>G (p.Ile406Met)
c.396A>G (p.Ile132Met)
c.924A>G (p.Ile308Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.22993045A>TCA503520936RBBP8c.1218A>T (p.Ile406=)
c.396A>T (p.Ile132=)
c.924A>T (p.Ile308=)
18g.22993046C>ACA401776934RBBP8c.1219C>A (p.Leu407Ile)
c.397C>A (p.Leu133Ile)
c.925C>A (p.Leu309Ile)
18g.22993046C=CA2289916314RBBP8c.1219C= (p.Leu407=)
c.397C= (p.Leu133=)
c.925C= (p.Leu309=)
18g.22993046C>GCA401776935RBBP8c.1219C>G (p.Leu407Val)
c.397C>G (p.Leu133Val)
c.925C>G (p.Leu309Val)
18g.22993046C>TCA8910032RBBP8c.1219C>T (p.Leu407Phe)
c.397C>T (p.Leu133Phe)
c.925C>T (p.Leu309Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22993047T>ACA401776936RBBP8c.1220T>A (p.Leu407His)
c.398T>A (p.Leu133His)
c.926T>A (p.Leu309His)
18g.22993047T>CCA401776937RBBP8c.1220T>C (p.Leu407Pro)
c.398T>C (p.Leu133Pro)
c.926T>C (p.Leu309Pro)
18g.22993047T>GCA401776938RBBP8c.1220T>G (p.Leu407Arg)
c.398T>G (p.Leu133Arg)
c.926T>G (p.Leu309Arg)
18g.22993047_22993053delinsTTATAAACA2289916316RBBP8c.1220_1226delinsTTATAAA (p.Leu407=)
c.398_404delinsTTATAAA (p.Leu133=)
c.926_932delinsTTATAAA (p.Leu309=)
18g.22993048T>ACA503520940RBBP8c.1221T>A (p.Leu407=)
c.399T>A (p.Leu133=)
c.927T>A (p.Leu309=)
18g.22993048T>CCA503520941RBBP8c.1221T>C (p.Leu407=)
c.399T>C (p.Leu133=)
c.927T>C (p.Leu309=)
18g.22993048T>GCA503520942RBBP8c.1221T>G (p.Leu407=)
c.399T>G (p.Leu133=)
c.927T>G (p.Leu309=)
18g.22993050_22993055delCA8910033RBBP8c.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
18g.22993049A=CA2289916320RBBP8c.1222A= (p.Ile408=)
c.400A= (p.Ile134=)
c.928A= (p.Ile310=)
18g.22993049A>CCA401776939RBBP8c.1222A>C (p.Ile408Leu)
c.400A>C (p.Ile134Leu)
c.928A>C (p.Ile310Leu)
18g.22993049A>GCA401776940RBBP8c.1222A>G (p.Ile408Val)
c.400A>G (p.Ile134Val)
c.928A>G (p.Ile310Val)
18g.22993049A>TCA8910034RBBP8c.1222A>T (p.Ile408Leu)
c.400A>T (p.Ile134Leu)
c.928A>T (p.Ile310Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22993050T>ACA401776943RBBP8c.1223T>A (p.Ile408Lys)
c.401T>A (p.Ile134Lys)
c.929T>A (p.Ile310Lys)
18g.22993050T>CCA401776942RBBP8c.1223T>C (p.Ile408Thr)
c.401T>C (p.Ile134Thr)
c.929T>C (p.Ile310Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.22993050T>GCA401776941RBBP8c.1223T>G (p.Ile408Arg)
c.401T>G (p.Ile134Arg)
c.929T>G (p.Ile310Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.22993050T=CA2289916322RBBP8c.1223T= (p.Ile408=)
c.401T= (p.Ile134=)
c.929T= (p.Ile310=)
18g.22993051A>CCA503520946RBBP8c.1224A>C (p.Ile408=)
c.402A>C (p.Ile134=)
c.930A>C (p.Ile310=)
18g.22993051A>GCA401776944RBBP8c.1224A>G (p.Ile408Met)
c.402A>G (p.Ile134Met)
c.930A>G (p.Ile310Met)
 gnomAD v4
18g.22993051A>TCA503520949RBBP8c.1224A>T (p.Ile408=)
c.402A>T (p.Ile134=)
c.930A>T (p.Ile310=)
18g.22993051_22993052insTTTTTCA2641247343RBBP8c.1224_1225insTTTTT (p.Asn409PhefsTer6)
c.402_403insTTTTT (p.Asn135PhefsTer6)
c.930_931insTTTTT (p.Asn311PhefsTer6)
 gnomAD v4
18g.22993052A>CCA401776945RBBP8c.1225A>C (p.Asn409His)
c.403A>C (p.Asn135His)
c.931A>C (p.Asn311His)
 dbSNP gnomAD v4
18g.22993052A>GCA401776946RBBP8c.1225A>G (p.Asn409Asp)
c.403A>G (p.Asn135Asp)
c.931A>G (p.Asn311Asp)
18g.22993052A>TCA401776947RBBP8c.1225A>T (p.Asn409Tyr)
c.403A>T (p.Asn135Tyr)
c.931A>T (p.Asn311Tyr)
18g.22993053A>CCA401776948RBBP8c.1226A>C (p.Asn409Thr)
c.404A>C (p.Asn135Thr)
c.932A>C (p.Asn311Thr)
18g.22993053A>GCA401776949RBBP8c.1226A>G (p.Asn409Ser)
c.404A>G (p.Asn135Ser)
c.932A>G (p.Asn311Ser)
 gnomAD v4
18g.22993053A>TCA401776950RBBP8c.1226A>T (p.Asn409Ile)
c.404A>T (p.Asn135Ile)
c.932A>T (p.Asn311Ile)
 gnomAD v4
18g.22993054T>ACA401776951RBBP8c.1227T>A (p.Asn409Lys)
c.405T>A (p.Asn135Lys)
c.933T>A (p.Asn311Lys)
18g.22993054T>CCA503520952RBBP8c.1227T>C (p.Asn409=)
c.405T>C (p.Asn135=)
c.933T>C (p.Asn311=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.22993054T>GCA401776952RBBP8c.1227T>G (p.Asn409Lys)
c.405T>G (p.Asn135Lys)
c.933T>G (p.Asn311Lys)
18g.22993054T=CA2289916324RBBP8c.1227T= (p.Asn409=)
c.405T= (p.Asn135=)
c.933T= (p.Asn311=)
18g.22993054_22993058delinsTAAAACA2289916323RBBP8c.1227_1231delinsTAAAA (p.Asn409=)
c.405_409delinsTAAAA (p.Asn135=)
c.933_937delinsTAAAA (p.Asn311=)
18g.22993055A>CCA401776953RBBP8c.1228A>C (p.Lys410Gln)
c.406A>C (p.Lys136Gln)
c.934A>C (p.Lys312Gln)
18g.22993055A>GCA401776954RBBP8c.1228A>G (p.Lys410Glu)
c.406A>G (p.Lys136Glu)
c.934A>G (p.Lys312Glu)
18g.22993055A>TCA401776955RBBP8c.1228A>T (p.Lys410Ter)
c.406A>T (p.Lys136Ter)
c.934A>T (p.Lys312Ter)
18g.22993055_22993059delCA2641247344RBBP8c.1228_1232del (p.Lys410TyrfsTer3)
c.406_410del (p.Lys136TyrfsTer3)
c.934_938del (p.Lys312TyrfsTer3)
 gnomAD v4
18g.22993056_22993059delCA8910035RBBP8c.1229_1232del (p.Lys410IlefsTer2)
c.407_410del (p.Lys136IlefsTer2)
c.935_938del (p.Lys312IlefsTer2)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22993056A>CCA401776957RBBP8c.1229A>C (p.Lys410Thr)
c.407A>C (p.Lys136Thr)
c.935A>C (p.Lys312Thr)
18g.22993056A>GCA401776958RBBP8c.1229A>G (p.Lys410Arg)
c.407A>G (p.Lys136Arg)
c.935A>G (p.Lys312Arg)
18g.22993056A>TCA401776956RBBP8c.1229A>T (p.Lys410Ile)
c.407A>T (p.Lys136Ile)
c.935A>T (p.Lys312Ile)
18g.22993057A=CA2289916327RBBP8c.1230A= (p.Lys410=)
c.408A= (p.Lys136=)
c.936A= (p.Lys312=)
18g.22993057A>CCA401776959RBBP8c.1230A>C (p.Lys410Asn)
c.408A>C (p.Lys136Asn)
c.936A>C (p.Lys312Asn)
18g.22993057A>GCA503520955RBBP8c.1230A>G (p.Lys410=)
c.408A>G (p.Lys136=)
c.936A>G (p.Lys312=)
18g.22993057A>TCA401776960RBBP8c.1230A>T (p.Lys410Asn)
c.408A>T (p.Lys136Asn)
c.936A>T (p.Lys312Asn)
 dbSNP gnomAD v2 gnomAD v4
18g.22993058A>CCA401776961RBBP8c.1231A>C (p.Asn411His)
c.409A>C (p.Asn137His)
c.937A>C (p.Asn313His)
18g.22993058A>GCA401776962RBBP8c.1231A>G (p.Asn411Asp)
c.409A>G (p.Asn137Asp)
c.937A>G (p.Asn313Asp)
18g.22993058A>TCA401776963RBBP8c.1231A>T (p.Asn411Tyr)
c.409A>T (p.Asn137Tyr)
c.937A>T (p.Asn313Tyr)
18g.22993058_22993059insCCAAACACACCCAACACCA2811798423RBBP8c.1231_1232insCCAAACACACCCAACAC (p.Asn411ThrfsTer8)
c.409_410insCCAAACACACCCAACAC (p.Asn137ThrfsTer8)
c.937_938insCCAAACACACCCAACAC (p.Asn313ThrfsTer8)
18g.22993059A=CA2289916329RBBP8c.1232A= (p.Asn411=)
c.410A= (p.Asn137=)
c.938A= (p.Asn313=)
18g.22993059A>CCA401776964RBBP8c.1232A>C (p.Asn411Thr)
c.410A>C (p.Asn137Thr)
c.938A>C (p.Asn313Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.22993059A>GCA401776965RBBP8c.1232A>G (p.Asn411Ser)
c.410A>G (p.Asn137Ser)
c.938A>G (p.Asn313Ser)
 gnomAD v4
18g.22993059A>TCA401776966RBBP8c.1232A>T (p.Asn411Ile)
c.410A>T (p.Asn137Ile)
c.938A>T (p.Asn313Ile)
18g.22993060T>ACA401776967RBBP8c.1233T>A (p.Asn411Lys)
c.411T>A (p.Asn137Lys)
c.939T>A (p.Asn313Lys)
18g.22993060T>CCA503520957RBBP8c.1233T>C (p.Asn411=)
c.411T>C (p.Asn137=)
c.939T>C (p.Asn313=)
18g.22993060T>GCA401776968RBBP8c.1233T>G (p.Asn411Lys)
c.411T>G (p.Asn137Lys)
c.939T>G (p.Asn313Lys)
18g.22993061A=CA2289916331RBBP8c.1234A= (p.Ile412=)
c.412A= (p.Ile138=)
c.940A= (p.Ile314=)
18g.22993061A>CCA401776969RBBP8c.1234A>C (p.Ile412Leu)
c.412A>C (p.Ile138Leu)
c.940A>C (p.Ile314Leu)
18g.22993061A>GCA401776970RBBP8c.1234A>G (p.Ile412Val)
c.412A>G (p.Ile138Val)
c.940A>G (p.Ile314Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.22993061A>TCA401776971RBBP8c.1234A>T (p.Ile412Leu)
c.412A>T (p.Ile138Leu)
c.940A>T (p.Ile314Leu)
18g.22993062T>ACA401776974RBBP8c.1235T>A (p.Ile412Lys)
c.413T>A (p.Ile138Lys)
c.941T>A (p.Ile314Lys)
18g.22993062T>CCA8910036RBBP8c.1235T>C (p.Ile412Thr)
c.413T>C (p.Ile138Thr)
c.941T>C (p.Ile314Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22993062T>GCA401776972RBBP8c.1235T>G (p.Ile412Arg)
c.413T>G (p.Ile138Arg)
c.941T>G (p.Ile314Arg)
 gnomAD v4
18g.22993062T=CA2289916333RBBP8c.1235T= (p.Ile412=)
c.413T= (p.Ile138=)
c.941T= (p.Ile314=)
18g.22993063A>CCA503520962RBBP8c.1236A>C (p.Ile412=)
c.414A>C (p.Ile138=)
c.942A>C (p.Ile314=)
18g.22993063A>GCA401776976RBBP8c.1236A>G (p.Ile412Met)
c.414A>G (p.Ile138Met)
c.942A>G (p.Ile314Met)
18g.22993063A>TCA503520960RBBP8c.1236A>T (p.Ile412=)
c.414A>T (p.Ile138=)
c.942A>T (p.Ile314=)
18g.22993064A>CCA401776978RBBP8c.1237A>C (p.Ser413Arg)
c.415A>C (p.Ser139Arg)
c.943A>C (p.Ser315Arg)
18g.22993064A>GCA401776979RBBP8c.1237A>G (p.Ser413Gly)
c.415A>G (p.Ser139Gly)
c.943A>G (p.Ser315Gly)
18g.22993064A>TCA401776980RBBP8c.1237A>T (p.Ser413Cys)
c.415A>T (p.Ser139Cys)
c.943A>T (p.Ser315Cys)
18g.22993065G>ACA401776982RBBP8c.1238G>A (p.Ser413Asn)
c.416G>A (p.Ser139Asn)
c.944G>A (p.Ser315Asn)
 dbSNP
18g.22993065G>CCA401776984RBBP8c.1238G>C (p.Ser413Thr)
c.416G>C (p.Ser139Thr)
c.944G>C (p.Ser315Thr)
 gnomAD v4
18g.22993065G=CA2289916334RBBP8c.1238G= (p.Ser413=)
c.416G= (p.Ser139=)
c.944G= (p.Ser315=)
18g.22993065G>TCA401776985RBBP8c.1238G>T (p.Ser413Ile)
c.416G>T (p.Ser139Ile)
c.944G>T (p.Ser315Ile)
18g.22993066T>ACA401776987RBBP8c.1239T>A (p.Ser413Arg)
c.417T>A (p.Ser139Arg)
c.945T>A (p.Ser315Arg)
18g.22993066T>CCA8910037RBBP8c.1239T>C (p.Ser413=)
c.417T>C (p.Ser139=)
c.945T>C (p.Ser315=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22993066T>GCA401776989RBBP8c.1239T>G (p.Ser413Arg)
c.417T>G (p.Ser139Arg)
c.945T>G (p.Ser315Arg)
18g.22993066T=CA2289916336RBBP8c.1239T= (p.Ser413=)
c.417T= (p.Ser139=)
c.945T= (p.Ser315=)
18g.22993067G>ACA401776991RBBP8c.1240G>A (p.Glu414Lys)
c.418G>A (p.Glu140Lys)
c.946G>A (p.Glu316Lys)
18g.22993067G>CCA401776992RBBP8c.1240G>C (p.Glu414Gln)
c.418G>C (p.Glu140Gln)
c.946G>C (p.Glu316Gln)
18g.22993067G=CA2289916337RBBP8c.1240G= (p.Glu414=)
c.418G= (p.Glu140=)
c.946G= (p.Glu316=)
18g.22993067G>TCA401776994RBBP8c.1240G>T (p.Glu414Ter)
c.418G>T (p.Glu140Ter)
c.946G>T (p.Glu316Ter)
 dbSNP gnomAD v2 gnomAD v4
18g.22993068A>CCA401776999RBBP8c.1241A>C (p.Glu414Ala)
c.419A>C (p.Glu140Ala)
c.947A>C (p.Glu316Ala)
 gnomAD v4
18g.22993068A>GCA401776997RBBP8c.1241A>G (p.Glu414Gly)
c.419A>G (p.Glu140Gly)
c.947A>G (p.Glu316Gly)
18g.22993068A>TCA401776996RBBP8c.1241A>T (p.Glu414Val)
c.419A>T (p.Glu140Val)
c.947A>T (p.Glu316Val)
18g.22993069A=CA2289916341RBBP8c.1242A= (p.Glu414=)
c.420A= (p.Glu140=)
c.948A= (p.Glu316=)
18g.22993069A>CCA401777000RBBP8c.1242A>C (p.Glu414Asp)
c.420A>C (p.Glu140Asp)
c.948A>C (p.Glu316Asp)
18g.22993069A>GCA503520966RBBP8c.1242A>G (p.Glu414=)
c.420A>G (p.Glu140=)
c.948A>G (p.Glu316=)
18g.22993069A>TCA8910038RBBP8c.1242A>T (p.Glu414Asp)
c.420A>T (p.Glu140Asp)
c.948A>T (p.Glu316Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22993070T>ACA8910039RBBP8c.1243T>A (p.Ser415Thr)
c.421T>A (p.Ser141Thr)
c.949T>A (p.Ser317Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.22993070T>CCA401777005RBBP8c.1243T>C (p.Ser415Pro)
c.421T>C (p.Ser141Pro)
c.949T>C (p.Ser317Pro)
18g.22993070T>GCA401777003RBBP8c.1243T>G (p.Ser415Ala)
c.421T>G (p.Ser141Ala)
c.949T>G (p.Ser317Ala)
18g.22993070T=CA2289916342RBBP8c.1243T= (p.Ser415=)
c.421T= (p.Ser141=)
c.949T= (p.Ser317=)
18g.22993071C>ACA401777006RBBP8c.1244C>A (p.Ser415Tyr)
c.422C>A (p.Ser141Tyr)
c.950C>A (p.Ser317Tyr)
18g.22993071C>GCA401777008RBBP8c.1244C>G (p.Ser415Cys)
c.422C>G (p.Ser141Cys)
c.950C>G (p.Ser317Cys)
18g.22993071C>TCA401777010RBBP8c.1244C>T (p.Ser415Phe)
c.422C>T (p.Ser141Phe)
c.950C>T (p.Ser317Phe)
 gnomAD v4
18g.22993072C>ACA503520970RBBP8c.1245C>A (p.Ser415=)
c.423C>A (p.Ser141=)
c.951C>A (p.Ser317=)
18g.22993072C=CA2289916343RBBP8c.1245C= (p.Ser415=)
c.423C= (p.Ser141=)
c.951C= (p.Ser317=)
18g.22993072C>GCA503520971RBBP8c.1245C>G (p.Ser415=)
c.423C>G (p.Ser141=)
c.951C>G (p.Ser317=)
18g.22993072C>TCA8910040RBBP8c.1245C>T (p.Ser415=)
c.423C>T (p.Ser141=)
c.951C>T (p.Ser317=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22993073C>ACA401777012RBBP8c.1246C>A (p.Leu416Ile)
c.424C>A (p.Leu142Ile)
c.952C>A (p.Leu318Ile)
18g.22993073C>GCA401777014RBBP8c.1246C>G (p.Leu416Val)
c.424C>G (p.Leu142Val)
c.952C>G (p.Leu318Val)
 gnomAD v4
18g.22993073C>TCA503520972RBBP8c.1246C>T (p.Leu416=)
c.424C>T (p.Leu142=)
c.952C>T (p.Leu318=)
18g.22993074T>ACA401777016RBBP8c.1247T>A (p.Leu416Gln)
c.425T>A (p.Leu142Gln)
c.953T>A (p.Leu318Gln)
18g.22993074T>CCA401777017RBBP8c.1247T>C (p.Leu416Pro)
c.425T>C (p.Leu142Pro)
c.953T>C (p.Leu318Pro)
18g.22993074T>GCA401777018RBBP8c.1247T>G (p.Leu416Arg)
c.425T>G (p.Leu142Arg)
c.953T>G (p.Leu318Arg)
18g.22993075A=CA2289916344RBBP8c.1248A= (p.Leu416=)
c.426A= (p.Leu142=)
c.954A= (p.Leu318=)
18g.22993075A>CCA503520976RBBP8c.1248A>C (p.Leu416=)
c.426A>C (p.Leu142=)
c.954A>C (p.Leu318=)
18g.22993075A>GCA503520974RBBP8c.1248A>G (p.Leu416=)
c.426A>G (p.Leu142=)
c.954A>G (p.Leu318=)
 dbSNP gnomAD v4
18g.22993075A>TCA503520975RBBP8c.1248A>T (p.Leu416=)
c.426A>T (p.Leu142=)
c.954A>T (p.Leu318=)
18g.22993076G>ACA401777019RBBP8c.1249G>A (p.Gly417Ser)
c.427G>A (p.Gly143Ser)
c.955G>A (p.Gly319Ser)
18g.22993076G>CCA401777021RBBP8c.1249G>C (p.Gly417Arg)
c.427G>C (p.Gly143Arg)
c.955G>C (p.Gly319Arg)
18g.22993076G=CA2289916345RBBP8c.1249G= (p.Gly417=)
c.427G= (p.Gly143=)
c.955G= (p.Gly319=)
18g.22993076G>TCA401777023RBBP8c.1249G>T (p.Gly417Cys)
c.427G>T (p.Gly143Cys)
c.955G>T (p.Gly319Cys)
 dbSNP
18g.22993077G>ACA401777027RBBP8c.1250G>A (p.Gly417Asp)
c.428G>A (p.Gly143Asp)
c.956G>A (p.Gly319Asp)
18g.22993077G>CCA401777024RBBP8c.1250G>C (p.Gly417Ala)
c.428G>C (p.Gly143Ala)
c.956G>C (p.Gly319Ala)
18g.22993077G>TCA401777025RBBP8c.1250G>T (p.Gly417Val)
c.428G>T (p.Gly143Val)
c.956G>T (p.Gly319Val)
18g.22993078T>ACA503520980RBBP8c.1251T>A (p.Gly417=)
c.429T>A (p.Gly143=)
c.957T>A (p.Gly319=)
18g.22993078T>CCA503520981RBBP8c.1251T>C (p.Gly417=)
c.429T>C (p.Gly143=)
c.957T>C (p.Gly319=)
18g.22993078T>GCA503520982RBBP8c.1251T>G (p.Gly417=)
c.429T>G (p.Gly143=)
c.957T>G (p.Gly319=)
18g.22993079G>ACA401777029RBBP8c.1252G>A (p.Glu418Lys)
c.430G>A (p.Glu144Lys)
c.958G>A (p.Glu320Lys)
18g.22993079G>CCA401777031RBBP8c.1252G>C (p.Glu418Gln)
c.430G>C (p.Glu144Gln)
c.958G>C (p.Glu320Gln)
18g.22993079G>TCA401777032RBBP8c.1252G>T (p.Glu418Ter)
c.430G>T (p.Glu144Ter)
c.958G>T (p.Glu320Ter)
18g.22993080A>CCA401777033RBBP8c.1253A>C (p.Glu418Ala)
c.431A>C (p.Glu144Ala)
c.959A>C (p.Glu320Ala)
18g.22993080A>GCA401777035RBBP8c.1253A>G (p.Glu418Gly)
c.431A>G (p.Glu144Gly)
c.959A>G (p.Glu320Gly)
18g.22993080A>TCA401777036RBBP8c.1253A>T (p.Glu418Val)
c.431A>T (p.Glu144Val)
c.959A>T (p.Glu320Val)
18g.22993081A>CCA401777038RBBP8c.1254A>C (p.Glu418Asp)
c.432A>C (p.Glu144Asp)
c.960A>C (p.Glu320Asp)
18g.22993081A>GCA503520987RBBP8c.1254A>G (p.Glu418=)
c.432A>G (p.Glu144=)
c.960A>G (p.Glu320=)
18g.22993081A>TCA401777039RBBP8c.1254A>T (p.Glu418Asp)
c.432A>T (p.Glu144Asp)
c.960A>T (p.Glu320Asp)
18g.22993082C>ACA401777041RBBP8c.1255C>A (p.Gln419Lys)
c.433C>A (p.Gln145Lys)
c.961C>A (p.Gln321Lys)
18g.22993082C>GCA401777043RBBP8c.1255C>G (p.Gln419Glu)
c.433C>G (p.Gln145Glu)
c.961C>G (p.Gln321Glu)
18g.22993082C>TCA401777044RBBP8c.1255C>T (p.Gln419Ter)
c.433C>T (p.Gln145Ter)
c.961C>T (p.Gln321Ter)
 gnomAD v4
18g.22993083A=CA2289916346RBBP8c.1256A= (p.Gln419=)
c.434A= (p.Gln145=)
c.962A= (p.Gln321=)
18g.22993083A>CCA401777049RBBP8c.1256A>C (p.Gln419Pro)
c.434A>C (p.Gln145Pro)
c.962A>C (p.Gln321Pro)
18g.22993083A>GCA401777048RBBP8c.1256A>G (p.Gln419Arg)
c.434A>G (p.Gln145Arg)
c.962A>G (p.Gln321Arg)
 dbSNP gnomAD v4
18g.22993083A>TCA401777046RBBP8c.1256A>T (p.Gln419Leu)
c.434A>T (p.Gln145Leu)
c.962A>T (p.Gln321Leu)
18g.22993084G>ACA503520991RBBP8c.1257G>A (p.Gln419=)
c.435G>A (p.Gln145=)
c.963G>A (p.Gln321=)
18g.22993084G>CCA401777051RBBP8c.1257G>C (p.Gln419His)
c.435G>C (p.Gln145His)
c.963G>C (p.Gln321His)
18g.22993084G>TCA401777052RBBP8c.1257G>T (p.Gln419His)
c.435G>T (p.Gln145His)
c.963G>T (p.Gln321His)
18g.22993085A>CCA401777053RBBP8c.1258A>C (p.Asn420His)
c.436A>C (p.Asn146His)
c.964A>C (p.Asn322His)
18g.22993085A>GCA401777055RBBP8c.1258A>G (p.Asn420Asp)
c.436A>G (p.Asn146Asp)
c.964A>G (p.Asn322Asp)
18g.22993085A>TCA401777056RBBP8c.1258A>T (p.Asn420Tyr)
c.436A>T (p.Asn146Tyr)
c.964A>T (p.Asn322Tyr)
18g.22993086A>CCA401777058RBBP8c.1259A>C (p.Asn420Thr)
c.437A>C (p.Asn146Thr)
c.965A>C (p.Asn322Thr)
18g.22993086A>GCA401777060RBBP8c.1259A>G (p.Asn420Ser)
c.437A>G (p.Asn146Ser)
c.965A>G (p.Asn322Ser)
 gnomAD v4
18g.22993086A>TCA401777061RBBP8c.1259A>T (p.Asn420Ile)
c.437A>T (p.Asn146Ile)
c.965A>T (p.Asn322Ile)
18g.22993087T>ACA401777063RBBP8c.1260T>A (p.Asn420Lys)
c.438T>A (p.Asn146Lys)
c.966T>A (p.Asn322Lys)
18g.22993087T>CCA10641134RBBP8c.1260T>C (p.Asn420=)
c.438T>C (p.Asn146=)
c.966T>C (p.Asn322=)
 dbSNP gnomAD v2 gnomAD v4
18g.22993087T>GCA401777065RBBP8c.1260T>G (p.Asn420Lys)
c.438T>G (p.Asn146Lys)
c.966T>G (p.Asn322Lys)
18g.22993087T=CA2289916347RBBP8c.1260T= (p.Asn420=)
c.438T= (p.Asn146=)
c.966T= (p.Asn322=)
18g.22993088A>CCA503520995RBBP8c.1261A>C (p.Arg421=)
c.439A>C (p.Arg147=)
c.967A>C (p.Arg323=)
18g.22993088A>GCA401777067RBBP8c.1261A>G (p.Arg421Gly)
c.439A>G (p.Arg147Gly)
c.967A>G (p.Arg323Gly)
18g.22993088A>TCA401777068RBBP8c.1261A>T (p.Arg421Trp)
c.439A>T (p.Arg147Trp)
c.967A>T (p.Arg323Trp)
18g.22993089G>ACA401777072RBBP8c.1262G>A (p.Arg421Lys)
c.440G>A (p.Arg147Lys)
c.968G>A (p.Arg323Lys)
18g.22993089G>CCA401777069RBBP8c.1262G>C (p.Arg421Thr)
c.440G>C (p.Arg147Thr)
c.968G>C (p.Arg323Thr)
 gnomAD v4
18g.22993089G>TCA401777071RBBP8c.1262G>T (p.Arg421Met)
c.440G>T (p.Arg147Met)
c.968G>T (p.Arg323Met)
18g.22993090G>ACA503520999RBBP8c.1263G>A (p.Arg421=)
c.441G>A (p.Arg147=)
c.969G>A (p.Arg323=)
18g.22993090G>CCA401777074RBBP8c.1263G>C (p.Arg421Ser)
c.441G>C (p.Arg147Ser)
c.969G>C (p.Arg323Ser)
18g.22993090G>TCA401777075RBBP8c.1263G>T (p.Arg421Ser)
c.441G>T (p.Arg147Ser)
c.969G>T (p.Arg323Ser)
18g.22993091A>CCA401777077RBBP8c.1264A>C (p.Thr422Pro)
c.442A>C (p.Thr148Pro)
c.970A>C (p.Thr324Pro)
18g.22993091A>GCA401777078RBBP8c.1264A>G (p.Thr422Ala)
c.442A>G (p.Thr148Ala)
c.970A>G (p.Thr324Ala)
18g.22993091A>TCA401777080RBBP8c.1264A>T (p.Thr422Ser)
c.442A>T (p.Thr148Ser)
c.970A>T (p.Thr324Ser)
18g.22993092C>ACA401777082RBBP8c.1265C>A (p.Thr422Asn)
c.443C>A (p.Thr148Asn)
c.971C>A (p.Thr324Asn)
18g.22993092C=CA2289916348RBBP8c.1265C= (p.Thr422=)
c.443C= (p.Thr148=)
c.971C= (p.Thr324=)
18g.22993092C>GCA401777084RBBP8c.1265C>G (p.Thr422Ser)
c.443C>G (p.Thr148Ser)
c.971C>G (p.Thr324Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.22993092C>TCA401777085RBBP8c.1265C>T (p.Thr422Ile)
c.443C>T (p.Thr148Ile)
c.971C>T (p.Thr324Ile)
18g.22993093T>ACA503521003RBBP8c.1266T>A (p.Thr422=)
c.444T>A (p.Thr148=)
c.972T>A (p.Thr324=)
 gnomAD v4
18g.22993093T>CCA503521004RBBP8c.1266T>C (p.Thr422=)
c.444T>C (p.Thr148=)
c.972T>C (p.Thr324=)
 gnomAD v4
18g.22993093T>GCA503521005RBBP8c.1266T>G (p.Thr422=)
c.444T>G (p.Thr148=)
c.972T>G (p.Thr324=)
18g.22993094G>ACA401777087RBBP8c.1267G>A (p.Glu423Lys)
c.445G>A (p.Glu149Lys)
c.973G>A (p.Glu325Lys)
 gnomAD v4
18g.22993094G>CCA401777088RBBP8c.1267G>C (p.Glu423Gln)
c.445G>C (p.Glu149Gln)
c.973G>C (p.Glu325Gln)
18g.22993094G>TCA401777090RBBP8c.1267G>T (p.Glu423Ter)
c.445G>T (p.Glu149Ter)
c.973G>T (p.Glu325Ter)
18g.22993095A=CA2289916349RBBP8c.1268A= (p.Glu423=)
c.446A= (p.Glu149=)
c.974A= (p.Glu325=)
18g.22993095A>CCA401777095RBBP8c.1268A>C (p.Glu423Ala)
c.446A>C (p.Glu149Ala)
c.974A>C (p.Glu325Ala)
18g.22993095A>GCA401777093RBBP8c.1268A>G (p.Glu423Gly)
c.446A>G (p.Glu149Gly)
c.974A>G (p.Glu325Gly)
 dbSNP
18g.22993095A>TCA401777092RBBP8c.1268A>T (p.Glu423Val)
c.446A>T (p.Glu149Val)
c.974A>T (p.Glu325Val)
18g.22993096G>ACA297050944RBBP8c.1269G>A (p.Glu423=)
c.447G>A (p.Glu149=)
c.975G>A (p.Glu325=)
 dbSNP gnomAD v4
18g.22993096G>CCA401777096RBBP8c.1269G>C (p.Glu423Asp)
c.447G>C (p.Glu149Asp)
c.975G>C (p.Glu325Asp)
18g.22993096G=CA2289916350RBBP8c.1269G= (p.Glu423=)
c.447G= (p.Glu149=)
c.975G= (p.Glu325=)
18g.22993096G>TCA401777098RBBP8c.1269G>T (p.Glu423Asp)
c.447G>T (p.Glu149Asp)
c.975G>T (p.Glu325Asp)
18g.22993097T>ACA401777100RBBP8c.1270T>A (p.Tyr424Asn)
c.448T>A (p.Tyr150Asn)
c.976T>A (p.Tyr326Asn)
18g.22993097T>CCA401777102RBBP8c.1270T>C (p.Tyr424His)
c.448T>C (p.Tyr150His)
c.976T>C (p.Tyr326His)
18g.22993097T>GCA401777103RBBP8c.1270T>G (p.Tyr424Asp)
c.448T>G (p.Tyr150Asp)
c.976T>G (p.Tyr326Asp)
18g.22993097dupCA8910041RBBP8c.1270dup (p.Tyr424LeufsTer3)
c.448dup (p.Tyr150LeufsTer3)
c.976dup (p.Tyr326LeufsTer3)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22993098A>CCA401777105RBBP8c.1271A>C (p.Tyr424Ser)
c.449A>C (p.Tyr150Ser)
c.977A>C (p.Tyr326Ser)
18g.22993098A>GCA401777106RBBP8c.1271A>G (p.Tyr424Cys)
c.449A>G (p.Tyr150Cys)
c.977A>G (p.Tyr326Cys)
 dbSNP
18g.22993098A>TCA401777107RBBP8c.1271A>T (p.Tyr424Phe)
c.449A>T (p.Tyr150Phe)
c.977A>T (p.Tyr326Phe)
18g.22993099C>ACA401777110RBBP8c.1272C>A (p.Tyr424Ter)
c.450C>A (p.Tyr150Ter)
c.978C>A (p.Tyr326Ter)
18g.22993099C=CA2289916352RBBP8c.1272C= (p.Tyr424=)
c.450C= (p.Tyr150=)
c.978C= (p.Tyr326=)
18g.22993099C>GCA401777111RBBP8c.1272C>G (p.Tyr424Ter)
c.450C>G (p.Tyr150Ter)
c.978C>G (p.Tyr326Ter)
18g.22993099C>TCA8910042RBBP8c.1272C>T (p.Tyr424=)
c.450C>T (p.Tyr150=)
c.978C>T (p.Tyr326=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22993100G>ACA8910043RBBP8c.1273G>A (p.Gly425Ser)
c.451G>A (p.Gly151Ser)
c.979G>A (p.Gly327Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22993100G>CCA401777114RBBP8c.1273G>C (p.Gly425Arg)
c.451G>C (p.Gly151Arg)
c.979G>C (p.Gly327Arg)
18g.22993100G=CA2289916354RBBP8c.1273G= (p.Gly425=)
c.451G= (p.Gly151=)
c.979G= (p.Gly327=)
18g.22993100G>TCA401777115RBBP8c.1273G>T (p.Gly425Cys)
c.451G>T (p.Gly151Cys)
c.979G>T (p.Gly327Cys)
18g.22993101G>ACA401777120RBBP8c.1274G>A (p.Gly425Asp)
c.452G>A (p.Gly151Asp)
c.980G>A (p.Gly327Asp)
 gnomAD v4
18g.22993101G>CCA401777117RBBP8c.1274G>C (p.Gly425Ala)
c.452G>C (p.Gly151Ala)
c.980G>C (p.Gly327Ala)
18g.22993101G>TCA401777119RBBP8c.1274G>T (p.Gly425Val)
c.452G>T (p.Gly151Val)
c.980G>T (p.Gly327Val)
 gnomAD v4
18g.22993102T>ACA503521011RBBP8c.1275T>A (p.Gly425=)
c.453T>A (p.Gly151=)
c.981T>A (p.Gly327=)
18g.22993102T>CCA503521012RBBP8c.1275T>C (p.Gly425=)
c.453T>C (p.Gly151=)
c.981T>C (p.Gly327=)
18g.22993102T>GCA503521013RBBP8c.1275T>G (p.Gly425=)
c.453T>G (p.Gly151=)
c.981T>G (p.Gly327=)
18g.22993103A>CCA401777122RBBP8c.1276A>C (p.Lys426Gln)
c.454A>C (p.Lys152Gln)
c.982A>C (p.Lys328Gln)
18g.22993103A>GCA401777124RBBP8c.1276A>G (p.Lys426Glu)
c.454A>G (p.Lys152Glu)
c.982A>G (p.Lys328Glu)
18g.22993103A>TCA401777125RBBP8c.1276A>T (p.Lys426Ter)
c.454A>T (p.Lys152Ter)
c.982A>T (p.Lys328Ter)
18g.22993104A>CCA401777127RBBP8c.1277A>C (p.Lys426Thr)
c.455A>C (p.Lys152Thr)
c.983A>C (p.Lys328Thr)
18g.22993104A>GCA401777128RBBP8c.1277A>G (p.Lys426Arg)
c.455A>G (p.Lys152Arg)
c.983A>G (p.Lys328Arg)
18g.22993104A>TCA401777129RBBP8c.1277A>T (p.Lys426Ile)
c.455A>T (p.Lys152Ile)
c.983A>T (p.Lys328Ile)
18g.22993105A>CCA401777130RBBP8c.1278A>C (p.Lys426Asn)
c.456A>C (p.Lys152Asn)
c.984A>C (p.Lys328Asn)
18g.22993105A>GCA503521017RBBP8c.1278A>G (p.Lys426=)
c.456A>G (p.Lys152=)
c.984A>G (p.Lys328=)
18g.22993105A>TCA401777131RBBP8c.1278A>T (p.Lys426Asn)
c.456A>T (p.Lys152Asn)
c.984A>T (p.Lys328Asn)
18g.22993106G>ACA401777133RBBP8c.1279G>A (p.Asp427Asn)
c.457G>A (p.Asp153Asn)
c.985G>A (p.Asp329Asn)
18g.22993106G>CCA401777134RBBP8c.1279G>C (p.Asp427His)
c.457G>C (p.Asp153His)
c.985G>C (p.Asp329His)
18g.22993106G>TCA401777136RBBP8c.1279G>T (p.Asp427Tyr)
c.457G>T (p.Asp153Tyr)
c.985G>T (p.Asp329Tyr)
 gnomAD v4
18g.22993107A=CA2289916355RBBP8c.1280A= (p.Asp427=)
c.458A= (p.Asp153=)
c.986A= (p.Asp329=)
18g.22993107A>CCA401777139RBBP8c.1280A>C (p.Asp427Ala)
c.458A>C (p.Asp153Ala)
c.986A>C (p.Asp329Ala)
18g.22993107A>GCA8910044RBBP8c.1280A>G (p.Asp427Gly)
c.458A>G (p.Asp153Gly)
c.986A>G (p.Asp329Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22993107A>TCA401777137RBBP8c.1280A>T (p.Asp427Val)
c.458A>T (p.Asp153Val)
c.986A>T (p.Asp329Val)
18g.22993108T>ACA401777141RBBP8c.1281T>A (p.Asp427Glu)
c.459T>A (p.Asp153Glu)
c.987T>A (p.Asp329Glu)
18g.22993108T>CCA503521021RBBP8c.1281T>C (p.Asp427=)
c.459T>C (p.Asp153=)
c.987T>C (p.Asp329=)
18g.22993108T>GCA401777142RBBP8c.1281T>G (p.Asp427Glu)
c.459T>G (p.Asp153Glu)
c.987T>G (p.Asp329Glu)
18g.22993109T>ACA401777144RBBP8c.1282T>A (p.Ser428Thr)
c.460T>A (p.Ser154Thr)
c.988T>A (p.Ser330Thr)
18g.22993109T>CCA401777145RBBP8c.1282T>C (p.Ser428Pro)
c.460T>C (p.Ser154Pro)
c.988T>C (p.Ser330Pro)
18g.22993109T>GCA401777146RBBP8c.1282T>G (p.Ser428Ala)
c.460T>G (p.Ser154Ala)
c.988T>G (p.Ser330Ala)
18g.22993110C>ACA401777148RBBP8c.1283C>A (p.Ser428Tyr)
c.461C>A (p.Ser154Tyr)
c.989C>A (p.Ser330Tyr)
18g.22993110C=CA2289916358RBBP8c.1283C= (p.Ser428=)
c.461C= (p.Ser154=)
c.989C= (p.Ser330=)
18g.22993110C>GCA401777149RBBP8c.1283C>G (p.Ser428Cys)
c.461C>G (p.Ser154Cys)
c.989C>G (p.Ser330Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.22993110C>TCA401777151RBBP8c.1283C>T (p.Ser428Phe)
c.461C>T (p.Ser154Phe)
c.989C>T (p.Ser330Phe)
 gnomAD v4
18g.22993111T>ACA503521143RBBP8c.1284T>A (p.Ser428=)
c.462T>A (p.Ser154=)
c.990T>A (p.Ser330=)
18g.22993111T>CCA503521144RBBP8c.1284T>C (p.Ser428=)
c.462T>C (p.Ser154=)
c.990T>C (p.Ser330=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.22993111T>GCA503521145RBBP8c.1284T>G (p.Ser428=)
c.462T>G (p.Ser154=)
c.990T>G (p.Ser330=)
18g.22993111T=CA2289916360RBBP8c.1284T= (p.Ser428=)
c.462T= (p.Ser154=)
c.990T= (p.Ser330=)
18g.22993112A>CCA401777152RBBP8c.1285A>C (p.Asn429His)
c.463A>C (p.Asn155His)
c.991A>C (p.Asn331His)
18g.22993112A>GCA401777154RBBP8c.1285A>G (p.Asn429Asp)
c.463A>G (p.Asn155Asp)
c.991A>G (p.Asn331Asp)
 gnomAD v4
18g.22993112A>TCA401777155RBBP8c.1285A>T (p.Asn429Tyr)
c.463A>T (p.Asn155Tyr)
c.991A>T (p.Asn331Tyr)
18g.22993113A>CCA401777157RBBP8c.1286A>C (p.Asn429Thr)
c.464A>C (p.Asn155Thr)
c.992A>C (p.Asn331Thr)
18g.22993113A>GCA401777158RBBP8c.1286A>G (p.Asn429Ser)
c.464A>G (p.Asn155Ser)
c.992A>G (p.Asn331Ser)
18g.22993113A>TCA401777160RBBP8c.1286A>T (p.Asn429Ile)
c.464A>T (p.Asn155Ile)
c.992A>T (p.Asn331Ile)
18g.22993114C>ACA401777161RBBP8c.1287C>A (p.Asn429Lys)
c.465C>A (p.Asn155Lys)
c.993C>A (p.Asn331Lys)
18g.22993114C>GCA401777163RBBP8c.1287C>G (p.Asn429Lys)
c.465C>G (p.Asn155Lys)
c.993C>G (p.Asn331Lys)
18g.22993114C>TCA503521152RBBP8c.1287C>T (p.Asn429=)
c.465C>T (p.Asn155=)
c.993C>T (p.Asn331=)
 gnomAD v4

Number of alleles fetched