Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
18 | g.22993118G>A | CA401777175 | RBBP8 | c.1291G>A (p.Asp431Asn) c.469G>A (p.Asp157Asn) c.997G>A (p.Asp333Asn) | gnomAD v4 |
18 | g.22993118G>C | CA401777177 | RBBP8 | c.1291G>C (p.Asp431His) c.469G>C (p.Asp157His) c.997G>C (p.Asp333His) | |
18 | g.22993118G>T | CA401777178 | RBBP8 | c.1291G>T (p.Asp431Tyr) c.469G>T (p.Asp157Tyr) c.997G>T (p.Asp333Tyr) | gnomAD v4 |
18 | g.22993119A>C | CA401777180 | RBBP8 | c.1292A>C (p.Asp431Ala) c.470A>C (p.Asp157Ala) c.998A>C (p.Asp333Ala) | |
18 | g.22993119A>G | CA401777182 | RBBP8 | c.1292A>G (p.Asp431Gly) c.470A>G (p.Asp157Gly) c.998A>G (p.Asp333Gly) | |
18 | g.22993119A>T | CA401777183 | RBBP8 | c.1292A>T (p.Asp431Val) c.470A>T (p.Asp157Val) c.998A>T (p.Asp333Val) | |
18 | g.22993120T>A | CA401777185 | RBBP8 | c.1293T>A (p.Asp431Glu) c.471T>A (p.Asp157Glu) c.999T>A (p.Asp333Glu) | |
18 | g.22993120T>C | CA503521161 | RBBP8 | c.1293T>C (p.Asp431=) c.471T>C (p.Asp157=) c.999T>C (p.Asp333=) | |
18 | g.22993120T>G | CA401777186 | RBBP8 | c.1293T>G (p.Asp431Glu) c.471T>G (p.Asp157Glu) c.999T>G (p.Asp333Glu) | |
18 | g.22993121A>C | CA401777188 | RBBP8 | c.1294A>C (p.Lys432Gln) c.472A>C (p.Lys158Gln) c.1000A>C (p.Lys334Gln) | |
18 | g.22993121A>G | CA401777191 | RBBP8 | c.1294A>G (p.Lys432Glu) c.472A>G (p.Lys158Glu) c.1000A>G (p.Lys334Glu) | |
18 | g.22993121A>T | CA401777189 | RBBP8 | c.1294A>T (p.Lys432Ter) c.472A>T (p.Lys158Ter) c.1000A>T (p.Lys334Ter) | |
18 | g.22993122A>C | CA401777192 | RBBP8 | c.1295A>C (p.Lys432Thr) c.473A>C (p.Lys158Thr) c.1001A>C (p.Lys334Thr) | |
18 | g.22993122A>G | CA401777195 | RBBP8 | c.1295A>G (p.Lys432Arg) c.473A>G (p.Lys158Arg) c.1001A>G (p.Lys334Arg) | |
18 | g.22993122A>T | CA401777194 | RBBP8 | c.1295A>T (p.Lys432Ile) c.473A>T (p.Lys158Ile) c.1001A>T (p.Lys334Ile) | |
18 | g.22993123A>C | CA401777197 | RBBP8 | c.1296A>C (p.Lys432Asn) c.474A>C (p.Lys158Asn) c.1002A>C (p.Lys334Asn) | |
18 | g.22993123A>G | CA503521164 | RBBP8 | c.1296A>G (p.Lys432=) c.474A>G (p.Lys158=) c.1002A>G (p.Lys334=) | |
18 | g.22993123A>T | CA401777199 | RBBP8 | c.1296A>T (p.Lys432Asn) c.474A>T (p.Lys158Asn) c.1002A>T (p.Lys334Asn) | |
18 | g.22993124C>A | CA401777201 | RBBP8 | c.1297C>A (p.His433Asn) c.475C>A (p.His159Asn) c.1003C>A (p.His335Asn) | |
18 | g.22993124C>G | CA401777202 | RBBP8 | c.1297C>G (p.His433Asp) c.475C>G (p.His159Asp) c.1003C>G (p.His335Asp) | |
18 | g.22993124C>T | CA401777203 | RBBP8 | c.1297C>T (p.His433Tyr) c.475C>T (p.His159Tyr) c.1003C>T (p.His335Tyr) | gnomAD v4 |
18 | g.22993125A= | CA2289916368 | RBBP8 | c.1298A= (p.His433=) c.476A= (p.His159=) c.1004A= (p.His335=) | |
18 | g.22993125A>C | CA401777205 | RBBP8 | c.1298A>C (p.His433Pro) c.476A>C (p.His159Pro) c.1004A>C (p.His335Pro) | |
18 | g.22993125A>G | CA401777207 | RBBP8 | c.1298A>G (p.His433Arg) c.476A>G (p.His159Arg) c.1004A>G (p.His335Arg) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.22993125A>T | CA401777209 | RBBP8 | c.1298A>T (p.His433Leu) c.476A>T (p.His159Leu) c.1004A>T (p.His335Leu) | |
18 | g.22993125_22993126insAG | CA2520589456 | RBBP8 | c.1298_1299insAG (p.His433GlnfsTer6) c.476_477insAG (p.His159GlnfsTer6) c.1004_1005insAG (p.His335GlnfsTer6) | |
18 | g.22993126T>A | CA401777210 | RBBP8 | c.1299T>A (p.His433Gln) c.477T>A (p.His159Gln) c.1005T>A (p.His335Gln) | |
18 | g.22993126T>C | CA503521171 | RBBP8 | c.1299T>C (p.His433=) c.477T>C (p.His159=) c.1005T>C (p.His335=) | |
18 | g.22993126T>G | CA401777211 | RBBP8 | c.1299T>G (p.His433Gln) c.477T>G (p.His159Gln) c.1005T>G (p.His335Gln) | |
18 | g.22993126_22993127insG | CA2560657569 | RBBP8 | c.1299_1300insG (p.Leu434ValfsTer18) c.477_478insG (p.Leu160ValfsTer18) c.1005_1006insG (p.Leu336ValfsTer18) | |
18 | g.22993127T>A | CA401777213 | RBBP8 | c.1300T>A (p.Leu434Met) c.478T>A (p.Leu160Met) c.1006T>A (p.Leu336Met) | |
18 | g.22993127T>C | CA503521174 | RBBP8 | c.1300T>C (p.Leu434=) c.478T>C (p.Leu160=) c.1006T>C (p.Leu336=) | |
18 | g.22993127T>G | CA401777215 | RBBP8 | c.1300T>G (p.Leu434Val) c.478T>G (p.Leu160Val) c.1006T>G (p.Leu336Val) | |
18 | g.22993128T>A | CA401777220 | RBBP8 | c.1301T>A (p.Leu434Ter) c.479T>A (p.Leu160Ter) c.1007T>A (p.Leu336Ter) | |
18 | g.22993128T>C | CA401777217 | RBBP8 | c.1301T>C (p.Leu434Ser) c.479T>C (p.Leu160Ser) c.1007T>C (p.Leu336Ser) | |
18 | g.22993128T>G | CA401777218 | RBBP8 | c.1301T>G (p.Leu434Trp) c.479T>G (p.Leu160Trp) c.1007T>G (p.Leu336Trp) | |
18 | g.22993129G>A | CA503521183 | RBBP8 | c.1302G>A (p.Leu434=) c.480G>A (p.Leu160=) c.1008G>A (p.Leu336=) | |
18 | g.22993129G>C | CA401777221 | RBBP8 | c.1302G>C (p.Leu434Phe) c.480G>C (p.Leu160Phe) c.1008G>C (p.Leu336Phe) | dbSNP |
18 | g.22993129G= | CA2289916369 | RBBP8 | c.1302G= (p.Leu434=) c.480G= (p.Leu160=) c.1008G= (p.Leu336=) | |
18 | g.22993129G>T | CA401777223 | RBBP8 | c.1302G>T (p.Leu434Phe) c.480G>T (p.Leu160Phe) c.1008G>T (p.Leu336Phe) | |
18 | g.22993129_22993130insCTAAAA | CA2515940630 | RBBP8 | c.1302_1303insCTAAAA (p.Leu434_Glu435insLeuLys) c.480_481insCTAAAA (p.Leu160_Glu161insLeuLys) c.1008_1009insCTAAAA (p.Leu336_Glu337insLeuLys) | |
18 | g.22993130G>A | CA401777225 | RBBP8 | c.1303G>A (p.Glu435Lys) c.481G>A (p.Glu161Lys) c.1009G>A (p.Glu337Lys) | |
18 | g.22993130G>C | CA401777226 | RBBP8 | c.1303G>C (p.Glu435Gln) c.481G>C (p.Glu161Gln) c.1009G>C (p.Glu337Gln) | |
18 | g.22993130G>T | CA401777228 | RBBP8 | c.1303G>T (p.Glu435Ter) c.481G>T (p.Glu161Ter) c.1009G>T (p.Glu337Ter) | |
18 | g.22993131A>C | CA401777230 | RBBP8 | c.1304A>C (p.Glu435Ala) c.482A>C (p.Glu161Ala) c.1010A>C (p.Glu337Ala) | |
18 | g.22993131A>G | CA401777231 | RBBP8 | c.1304A>G (p.Glu435Gly) c.482A>G (p.Glu161Gly) c.1010A>G (p.Glu337Gly) | |
18 | g.22993131A>T | CA401777232 | RBBP8 | c.1304A>T (p.Glu435Val) c.482A>T (p.Glu161Val) c.1010A>T (p.Glu337Val) | |
18 | g.22993132G>A | CA503521188 | RBBP8 | c.1305G>A (p.Glu435=) c.483G>A (p.Glu161=) c.1011G>A (p.Glu337=) | |
18 | g.22993132G>C | CA401777234 | RBBP8 | c.1305G>C (p.Glu435Asp) c.483G>C (p.Glu161Asp) c.1011G>C (p.Glu337Asp) | |
18 | g.22993132G>T | CA401777236 | RBBP8 | c.1305G>T (p.Glu435Asp) c.483G>T (p.Glu161Asp) c.1011G>T (p.Glu337Asp) | COSMIC COSMIC |
18 | g.22993133C>A | CA401777241 | RBBP8 | c.1306C>A (p.Pro436Thr) c.484C>A (p.Pro162Thr) c.1012C>A (p.Pro338Thr) | |
18 | g.22993133C= | CA2289916372 | RBBP8 | c.1306C= (p.Pro436=) c.484C= (p.Pro162=) c.1012C= (p.Pro338=) | |
18 | g.22993133C>G | CA401777239 | RBBP8 | c.1306C>G (p.Pro436Ala) c.484C>G (p.Pro162Ala) c.1012C>G (p.Pro338Ala) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.22993133C>T | CA401777238 | RBBP8 | c.1306C>T (p.Pro436Ser) c.484C>T (p.Pro162Ser) c.1012C>T (p.Pro338Ser) | COSMIC COSMIC |
18 | g.22993134C>A | CA401777242 | RBBP8 | c.1307C>A (p.Pro436His) c.485C>A (p.Pro162His) c.1013C>A (p.Pro338His) | dbSNP |
18 | g.22993134C= | CA2289916374 | RBBP8 | c.1307C= (p.Pro436=) c.485C= (p.Pro162=) c.1013C= (p.Pro338=) | |
18 | g.22993134C>G | CA401777244 | RBBP8 | c.1307C>G (p.Pro436Arg) c.485C>G (p.Pro162Arg) c.1013C>G (p.Pro338Arg) | |
18 | g.22993134C>T | CA401777246 | RBBP8 | c.1307C>T (p.Pro436Leu) c.485C>T (p.Pro162Leu) c.1013C>T (p.Pro338Leu) | |
18 | g.22993135C>A | CA503521192 | RBBP8 | c.1308C>A (p.Pro436=) c.486C>A (p.Pro162=) c.1014C>A (p.Pro338=) | |
18 | g.22993135C= | CA2289916376 | RBBP8 | c.1308C= (p.Pro436=) c.486C= (p.Pro162=) c.1014C= (p.Pro338=) | |
18 | g.22993135C>G | CA503521193 | RBBP8 | c.1308C>G (p.Pro436=) c.486C>G (p.Pro162=) c.1014C>G (p.Pro338=) | dbSNP |
18 | g.22993135C>T | CA503521195 | RBBP8 | c.1308C>T (p.Pro436=) c.486C>T (p.Pro162=) c.1014C>T (p.Pro338=) | |
18 | g.22993136C>A | CA401777247 | RBBP8 | c.1309C>A (p.Leu437Met) c.487C>A (p.Leu163Met) c.1015C>A (p.Leu339Met) | COSMIC COSMIC |
18 | g.22993136C= | CA2289916378 | RBBP8 | c.1309C= (p.Leu437=) c.487C= (p.Leu163=) c.1015C= (p.Leu339=) | |
18 | g.22993136C>G | CA8910046 | RBBP8 | c.1309C>G (p.Leu437Val) c.487C>G (p.Leu163Val) c.1015C>G (p.Leu339Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.22993136C>T | CA503521199 | RBBP8 | c.1309C>T (p.Leu437=) c.487C>T (p.Leu163=) c.1015C>T (p.Leu339=) | gnomAD v4 |
18 | g.22993137del | CA2576468487 | RBBP8 | c.1310del (p.Leu437ArgfsTer22) c.488del (p.Leu163ArgfsTer22) c.1016del (p.Leu339ArgfsTer22) | |
18 | g.22993137T>A | CA401777249 | RBBP8 | c.1310T>A (p.Leu437Gln) c.488T>A (p.Leu163Gln) c.1016T>A (p.Leu339Gln) | |
18 | g.22993137T>C | CA401777251 | RBBP8 | c.1310T>C (p.Leu437Pro) c.488T>C (p.Leu163Pro) c.1016T>C (p.Leu339Pro) | |
18 | g.22993137T>G | CA401777253 | RBBP8 | c.1310T>G (p.Leu437Arg) c.488T>G (p.Leu163Arg) c.1016T>G (p.Leu339Arg) | dbSNP gnomAD v4 |
18 | g.22993137T= | CA2289916380 | RBBP8 | c.1310T= (p.Leu437=) c.488T= (p.Leu163=) c.1016T= (p.Leu339=) | |
18 | g.22993138G>A | CA503521202 | RBBP8 | c.1311G>A (p.Leu437=) c.489G>A (p.Leu163=) c.1017G>A (p.Leu339=) | |
18 | g.22993138G>C | CA503521204 | RBBP8 | c.1311G>C (p.Leu437=) c.489G>C (p.Leu163=) c.1017G>C (p.Leu339=) | |
18 | g.22993138G>T | CA503521205 | RBBP8 | c.1311G>T (p.Leu437=) c.489G>T (p.Leu163=) c.1017G>T (p.Leu339=) | |
18 | g.22993139A>C | CA401777254 | RBBP8 | c.1312A>C (p.Lys438Gln) c.490A>C (p.Lys164Gln) c.1018A>C (p.Lys340Gln) | |
18 | g.22993139A>G | CA401777256 | RBBP8 | c.1312A>G (p.Lys438Glu) c.490A>G (p.Lys164Glu) c.1018A>G (p.Lys340Glu) | |
18 | g.22993139A>T | CA401777258 | RBBP8 | c.1312A>T (p.Lys438Ter) c.490A>T (p.Lys164Ter) c.1018A>T (p.Lys340Ter) | |
18 | g.22993140A>C | CA401777261 | RBBP8 | c.1313A>C (p.Lys438Thr) c.491A>C (p.Lys164Thr) c.1019A>C (p.Lys340Thr) | |
18 | g.22993140A>G | CA401777260 | RBBP8 | c.1313A>G (p.Lys438Arg) c.491A>G (p.Lys164Arg) c.1019A>G (p.Lys340Arg) | |
18 | g.22993140A>T | CA401777259 | RBBP8 | c.1313A>T (p.Lys438Ile) c.491A>T (p.Lys164Ile) c.1019A>T (p.Lys340Ile) | |
18 | g.22993140_22993143delinsAATC | CA2289916381 | RBBP8 | c.1313_1316delinsAATC (p.Lys438=) c.491_494delinsAATC (p.Lys164=) c.1019_1022delinsAATC (p.Lys340=) |