Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
18g.22993115A=CA2289916362RBBP8c.1288A= (p.Thr430=)
c.466A= (p.Thr156=)
c.994A= (p.Thr332=)
18g.22993115A>CCA401777165RBBP8c.1288A>C (p.Thr430Pro)
c.466A>C (p.Thr156Pro)
c.994A>C (p.Thr332Pro)
18g.22993115A>GCA401777166RBBP8c.1288A>G (p.Thr430Ala)
c.466A>G (p.Thr156Ala)
c.994A>G (p.Thr332Ala)
 dbSNP gnomAD v3 gnomAD v4
18g.22993115A>TCA401777168RBBP8c.1288A>T (p.Thr430Ser)
c.466A>T (p.Thr156Ser)
c.994A>T (p.Thr332Ser)
18g.22993116C>ACA401777170RBBP8c.1289C>A (p.Thr430Asn)
c.467C>A (p.Thr156Asn)
c.995C>A (p.Thr332Asn)
18g.22993116C=CA2289916363RBBP8c.1289C= (p.Thr430=)
c.467C= (p.Thr156=)
c.995C= (p.Thr332=)
18g.22993116C>GCA401777172RBBP8c.1289C>G (p.Thr430Ser)
c.467C>G (p.Thr156Ser)
c.995C>G (p.Thr332Ser)
18g.22993116C>TCA401777173RBBP8c.1289C>T (p.Thr430Ile)
c.467C>T (p.Thr156Ile)
c.995C>T (p.Thr332Ile)
 dbSNP gnomAD v2
18g.22993117T>ACA8910045RBBP8c.1290T>A (p.Thr430=)
c.468T>A (p.Thr156=)
c.996T>A (p.Thr332=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22993117T>CCA503521155RBBP8c.1290T>C (p.Thr430=)
c.468T>C (p.Thr156=)
c.996T>C (p.Thr332=)
18g.22993117T>GCA503521156RBBP8c.1290T>G (p.Thr430=)
c.468T>G (p.Thr156=)
c.996T>G (p.Thr332=)
18g.22993117T=CA2289916366RBBP8c.1290T= (p.Thr430=)
c.468T= (p.Thr156=)
c.996T= (p.Thr332=)
18g.22993118G>ACA401777175RBBP8c.1291G>A (p.Asp431Asn)
c.469G>A (p.Asp157Asn)
c.997G>A (p.Asp333Asn)
 gnomAD v4
18g.22993118G>CCA401777177RBBP8c.1291G>C (p.Asp431His)
c.469G>C (p.Asp157His)
c.997G>C (p.Asp333His)
18g.22993118G>TCA401777178RBBP8c.1291G>T (p.Asp431Tyr)
c.469G>T (p.Asp157Tyr)
c.997G>T (p.Asp333Tyr)
 gnomAD v4
18g.22993119A>CCA401777180RBBP8c.1292A>C (p.Asp431Ala)
c.470A>C (p.Asp157Ala)
c.998A>C (p.Asp333Ala)
18g.22993119A>GCA401777182RBBP8c.1292A>G (p.Asp431Gly)
c.470A>G (p.Asp157Gly)
c.998A>G (p.Asp333Gly)
18g.22993119A>TCA401777183RBBP8c.1292A>T (p.Asp431Val)
c.470A>T (p.Asp157Val)
c.998A>T (p.Asp333Val)
18g.22993120T>ACA401777185RBBP8c.1293T>A (p.Asp431Glu)
c.471T>A (p.Asp157Glu)
c.999T>A (p.Asp333Glu)
18g.22993120T>CCA503521161RBBP8c.1293T>C (p.Asp431=)
c.471T>C (p.Asp157=)
c.999T>C (p.Asp333=)
18g.22993120T>GCA401777186RBBP8c.1293T>G (p.Asp431Glu)
c.471T>G (p.Asp157Glu)
c.999T>G (p.Asp333Glu)
18g.22993121A>CCA401777188RBBP8c.1294A>C (p.Lys432Gln)
c.472A>C (p.Lys158Gln)
c.1000A>C (p.Lys334Gln)
18g.22993121A>GCA401777191RBBP8c.1294A>G (p.Lys432Glu)
c.472A>G (p.Lys158Glu)
c.1000A>G (p.Lys334Glu)
18g.22993121A>TCA401777189RBBP8c.1294A>T (p.Lys432Ter)
c.472A>T (p.Lys158Ter)
c.1000A>T (p.Lys334Ter)
18g.22993122A>CCA401777192RBBP8c.1295A>C (p.Lys432Thr)
c.473A>C (p.Lys158Thr)
c.1001A>C (p.Lys334Thr)
18g.22993122A>GCA401777195RBBP8c.1295A>G (p.Lys432Arg)
c.473A>G (p.Lys158Arg)
c.1001A>G (p.Lys334Arg)
18g.22993122A>TCA401777194RBBP8c.1295A>T (p.Lys432Ile)
c.473A>T (p.Lys158Ile)
c.1001A>T (p.Lys334Ile)
18g.22993123A>CCA401777197RBBP8c.1296A>C (p.Lys432Asn)
c.474A>C (p.Lys158Asn)
c.1002A>C (p.Lys334Asn)
18g.22993123A>GCA503521164RBBP8c.1296A>G (p.Lys432=)
c.474A>G (p.Lys158=)
c.1002A>G (p.Lys334=)
18g.22993123A>TCA401777199RBBP8c.1296A>T (p.Lys432Asn)
c.474A>T (p.Lys158Asn)
c.1002A>T (p.Lys334Asn)
18g.22993124C>ACA401777201RBBP8c.1297C>A (p.His433Asn)
c.475C>A (p.His159Asn)
c.1003C>A (p.His335Asn)
18g.22993124C>GCA401777202RBBP8c.1297C>G (p.His433Asp)
c.475C>G (p.His159Asp)
c.1003C>G (p.His335Asp)
18g.22993124C>TCA401777203RBBP8c.1297C>T (p.His433Tyr)
c.475C>T (p.His159Tyr)
c.1003C>T (p.His335Tyr)
 gnomAD v4
18g.22993125A=CA2289916368RBBP8c.1298A= (p.His433=)
c.476A= (p.His159=)
c.1004A= (p.His335=)
18g.22993125A>CCA401777205RBBP8c.1298A>C (p.His433Pro)
c.476A>C (p.His159Pro)
c.1004A>C (p.His335Pro)
18g.22993125A>GCA401777207RBBP8c.1298A>G (p.His433Arg)
c.476A>G (p.His159Arg)
c.1004A>G (p.His335Arg)
 dbSNP gnomAD v3 gnomAD v4
18g.22993125A>TCA401777209RBBP8c.1298A>T (p.His433Leu)
c.476A>T (p.His159Leu)
c.1004A>T (p.His335Leu)
18g.22993125_22993126insAGCA2520589456RBBP8c.1298_1299insAG (p.His433GlnfsTer6)
c.476_477insAG (p.His159GlnfsTer6)
c.1004_1005insAG (p.His335GlnfsTer6)
18g.22993126T>ACA401777210RBBP8c.1299T>A (p.His433Gln)
c.477T>A (p.His159Gln)
c.1005T>A (p.His335Gln)
18g.22993126T>CCA503521171RBBP8c.1299T>C (p.His433=)
c.477T>C (p.His159=)
c.1005T>C (p.His335=)
18g.22993126T>GCA401777211RBBP8c.1299T>G (p.His433Gln)
c.477T>G (p.His159Gln)
c.1005T>G (p.His335Gln)
18g.22993126_22993127insGCA2560657569RBBP8c.1299_1300insG (p.Leu434ValfsTer18)
c.477_478insG (p.Leu160ValfsTer18)
c.1005_1006insG (p.Leu336ValfsTer18)
18g.22993127T>ACA401777213RBBP8c.1300T>A (p.Leu434Met)
c.478T>A (p.Leu160Met)
c.1006T>A (p.Leu336Met)
18g.22993127T>CCA503521174RBBP8c.1300T>C (p.Leu434=)
c.478T>C (p.Leu160=)
c.1006T>C (p.Leu336=)
18g.22993127T>GCA401777215RBBP8c.1300T>G (p.Leu434Val)
c.478T>G (p.Leu160Val)
c.1006T>G (p.Leu336Val)
18g.22993128T>ACA401777220RBBP8c.1301T>A (p.Leu434Ter)
c.479T>A (p.Leu160Ter)
c.1007T>A (p.Leu336Ter)
18g.22993128T>CCA401777217RBBP8c.1301T>C (p.Leu434Ser)
c.479T>C (p.Leu160Ser)
c.1007T>C (p.Leu336Ser)
18g.22993128T>GCA401777218RBBP8c.1301T>G (p.Leu434Trp)
c.479T>G (p.Leu160Trp)
c.1007T>G (p.Leu336Trp)
18g.22993129G>ACA503521183RBBP8c.1302G>A (p.Leu434=)
c.480G>A (p.Leu160=)
c.1008G>A (p.Leu336=)
18g.22993129G>CCA401777221RBBP8c.1302G>C (p.Leu434Phe)
c.480G>C (p.Leu160Phe)
c.1008G>C (p.Leu336Phe)
 dbSNP
18g.22993129G=CA2289916369RBBP8c.1302G= (p.Leu434=)
c.480G= (p.Leu160=)
c.1008G= (p.Leu336=)
18g.22993129G>TCA401777223RBBP8c.1302G>T (p.Leu434Phe)
c.480G>T (p.Leu160Phe)
c.1008G>T (p.Leu336Phe)
18g.22993129_22993130insCTAAAACA2515940630RBBP8c.1302_1303insCTAAAA (p.Leu434_Glu435insLeuLys)
c.480_481insCTAAAA (p.Leu160_Glu161insLeuLys)
c.1008_1009insCTAAAA (p.Leu336_Glu337insLeuLys)
18g.22993130G>ACA401777225RBBP8c.1303G>A (p.Glu435Lys)
c.481G>A (p.Glu161Lys)
c.1009G>A (p.Glu337Lys)
18g.22993130G>CCA401777226RBBP8c.1303G>C (p.Glu435Gln)
c.481G>C (p.Glu161Gln)
c.1009G>C (p.Glu337Gln)
18g.22993130G>TCA401777228RBBP8c.1303G>T (p.Glu435Ter)
c.481G>T (p.Glu161Ter)
c.1009G>T (p.Glu337Ter)
18g.22993131A>CCA401777230RBBP8c.1304A>C (p.Glu435Ala)
c.482A>C (p.Glu161Ala)
c.1010A>C (p.Glu337Ala)
18g.22993131A>GCA401777231RBBP8c.1304A>G (p.Glu435Gly)
c.482A>G (p.Glu161Gly)
c.1010A>G (p.Glu337Gly)
18g.22993131A>TCA401777232RBBP8c.1304A>T (p.Glu435Val)
c.482A>T (p.Glu161Val)
c.1010A>T (p.Glu337Val)
18g.22993132G>ACA503521188RBBP8c.1305G>A (p.Glu435=)
c.483G>A (p.Glu161=)
c.1011G>A (p.Glu337=)
18g.22993132G>CCA401777234RBBP8c.1305G>C (p.Glu435Asp)
c.483G>C (p.Glu161Asp)
c.1011G>C (p.Glu337Asp)
18g.22993132G>TCA401777236RBBP8c.1305G>T (p.Glu435Asp)
c.483G>T (p.Glu161Asp)
c.1011G>T (p.Glu337Asp)
 COSMIC COSMIC
18g.22993133C>ACA401777241RBBP8c.1306C>A (p.Pro436Thr)
c.484C>A (p.Pro162Thr)
c.1012C>A (p.Pro338Thr)
18g.22993133C=CA2289916372RBBP8c.1306C= (p.Pro436=)
c.484C= (p.Pro162=)
c.1012C= (p.Pro338=)
18g.22993133C>GCA401777239RBBP8c.1306C>G (p.Pro436Ala)
c.484C>G (p.Pro162Ala)
c.1012C>G (p.Pro338Ala)
 dbSNP gnomAD v3 gnomAD v4
18g.22993133C>TCA401777238RBBP8c.1306C>T (p.Pro436Ser)
c.484C>T (p.Pro162Ser)
c.1012C>T (p.Pro338Ser)
 COSMIC COSMIC
18g.22993134C>ACA401777242RBBP8c.1307C>A (p.Pro436His)
c.485C>A (p.Pro162His)
c.1013C>A (p.Pro338His)
 dbSNP
18g.22993134C=CA2289916374RBBP8c.1307C= (p.Pro436=)
c.485C= (p.Pro162=)
c.1013C= (p.Pro338=)
18g.22993134C>GCA401777244RBBP8c.1307C>G (p.Pro436Arg)
c.485C>G (p.Pro162Arg)
c.1013C>G (p.Pro338Arg)
18g.22993134C>TCA401777246RBBP8c.1307C>T (p.Pro436Leu)
c.485C>T (p.Pro162Leu)
c.1013C>T (p.Pro338Leu)
18g.22993135C>ACA503521192RBBP8c.1308C>A (p.Pro436=)
c.486C>A (p.Pro162=)
c.1014C>A (p.Pro338=)
18g.22993135C=CA2289916376RBBP8c.1308C= (p.Pro436=)
c.486C= (p.Pro162=)
c.1014C= (p.Pro338=)
18g.22993135C>GCA503521193RBBP8c.1308C>G (p.Pro436=)
c.486C>G (p.Pro162=)
c.1014C>G (p.Pro338=)
 dbSNP
18g.22993135C>TCA503521195RBBP8c.1308C>T (p.Pro436=)
c.486C>T (p.Pro162=)
c.1014C>T (p.Pro338=)
18g.22993136C>ACA401777247RBBP8c.1309C>A (p.Leu437Met)
c.487C>A (p.Leu163Met)
c.1015C>A (p.Leu339Met)
 COSMIC COSMIC
18g.22993136C=CA2289916378RBBP8c.1309C= (p.Leu437=)
c.487C= (p.Leu163=)
c.1015C= (p.Leu339=)
18g.22993136C>GCA8910046RBBP8c.1309C>G (p.Leu437Val)
c.487C>G (p.Leu163Val)
c.1015C>G (p.Leu339Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22993136C>TCA503521199RBBP8c.1309C>T (p.Leu437=)
c.487C>T (p.Leu163=)
c.1015C>T (p.Leu339=)
 gnomAD v4

Number of alleles fetched