Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.244863508_244864169del | CA2580063520 | HNRNPU | c.143_634+170del n.328_819+170del n.374_922+113del c.143_691+113del n.367_858+170del n.327_818+170del | ClinVar |
1 | g.244863665_244863682dup | CA2651343131 | HNRNPU | c.310_312+15dup c.632_634+15dup n.817_819+15dup c.416_418+15dup n.863_880dup c.632_649dup (p.Ala216_Glu217insGlyGlyLysLysLysAla) c.332_334+15dup n.856_858+15dup n.816_818+15dup | gnomAD v4 |
1 | g.244863682T>A | CA345496265 | HNRNPU | c.304A>T c.626A>T (p.Gln209Leu) n.811A>T c.410A>T (p.Gln137Leu) n.857A>T c.326A>T (p.Gln109Leu) n.850A>T n.810A>T | |
1 | g.244863682T>C | CA345496267 | HNRNPU | c.304A>G c.626A>G (p.Gln209Arg) n.811A>G c.410A>G (p.Gln137Arg) n.857A>G c.326A>G (p.Gln109Arg) n.850A>G n.810A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.244863682T>G | CA345496269 | HNRNPU | c.304A>C c.626A>C (p.Gln209Pro) n.811A>C c.410A>C (p.Gln137Pro) n.857A>C c.326A>C (p.Gln109Pro) n.850A>C n.810A>C | COSMIC COSMIC |
1 | g.244863682T= | CA1231007381 | HNRNPU | c.304A= c.626A= (p.Gln209=) n.811A= c.410A= (p.Gln137=) n.857A= c.326A= (p.Gln109=) n.850A= n.810A= | |
1 | g.244863683G>A | CA345496272 | HNRNPU | c.303C>T c.625C>T (p.Gln209Ter) n.810C>T c.409C>T (p.Gln137Ter) n.856C>T c.325C>T (p.Gln109Ter) n.849C>T n.809C>T | gnomAD v4 |
1 | g.244863683G>C | CA345496273 | HNRNPU | c.303C>G c.625C>G (p.Gln209Glu) n.810C>G c.409C>G (p.Gln137Glu) n.856C>G c.325C>G (p.Gln109Glu) n.849C>G n.809C>G | gnomAD v4 |
1 | g.244863683G>T | CA345496275 | HNRNPU | c.303C>A c.625C>A (p.Gln209Lys) n.810C>A c.409C>A (p.Gln137Lys) n.856C>A c.325C>A (p.Gln109Lys) n.849C>A n.809C>A | gnomAD v4 |
1 | g.244863684C>A | CA345496276 | HNRNPU | c.302G>T c.624G>T (p.Gln208His) n.809G>T c.408G>T (p.Gln136His) n.855G>T c.324G>T (p.Gln108His) n.848G>T n.808G>T | |
1 | g.244863684C= | CA1231007382 | HNRNPU | c.302G= c.624G= (p.Gln208=) n.809G= c.408G= (p.Gln136=) n.855G= c.324G= (p.Gln108=) n.848G= n.808G= | |
1 | g.244863684C>G | CA345496278 | HNRNPU | c.302G>C c.624G>C (p.Gln208His) n.809G>C c.408G>C (p.Gln136His) n.855G>C c.324G>C (p.Gln108His) n.848G>C n.808G>C | |
1 | g.244863684C>T | CA424402513 | HNRNPU | c.302G>A c.624G>A (p.Gln208=) n.809G>A c.408G>A (p.Gln136=) n.855G>A c.324G>A (p.Gln108=) n.848G>A n.808G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863685T>A | CA345496280 | HNRNPU | c.301A>T c.623A>T (p.Gln208Leu) n.808A>T c.407A>T (p.Gln136Leu) n.854A>T c.323A>T (p.Gln108Leu) n.847A>T n.807A>T | |
1 | g.244863685T>C | CA345496282 | HNRNPU | c.301A>G c.623A>G (p.Gln208Arg) n.808A>G c.407A>G (p.Gln136Arg) n.854A>G c.323A>G (p.Gln108Arg) n.847A>G n.807A>G | |
1 | g.244863685T>G | CA345496284 | HNRNPU | c.301A>C c.623A>C (p.Gln208Pro) n.808A>C c.407A>C (p.Gln136Pro) n.854A>C c.323A>C (p.Gln108Pro) n.847A>C n.807A>C | |
1 | g.244863686G>A | CA345496285 | HNRNPU | c.300C>T c.622C>T (p.Gln208Ter) n.807C>T c.406C>T (p.Gln136Ter) n.853C>T c.322C>T (p.Gln108Ter) n.846C>T n.806C>T | ClinVar dbSNP gnomAD v4 |
1 | g.244863686G>C | CA345496287 | HNRNPU | c.300C>G c.622C>G (p.Gln208Glu) n.807C>G c.406C>G (p.Gln136Glu) n.853C>G c.322C>G (p.Gln108Glu) n.846C>G n.806C>G | ClinVar dbSNP gnomAD v4 |
1 | g.244863686G= | CA1231007383 | HNRNPU | c.300C= c.622C= (p.Gln208=) n.807C= c.406C= (p.Gln136=) n.853C= c.322C= (p.Gln108=) n.846C= n.806C= | |
1 | g.244863686G>T | CA345496289 | HNRNPU | c.300C>A c.622C>A (p.Gln208Lys) n.807C>A c.406C>A (p.Gln136Lys) n.853C>A c.322C>A (p.Gln108Lys) n.846C>A n.806C>A | gnomAD v4 |
1 | g.244863687C>A | CA345496292 | HNRNPU | c.299G>T c.621G>T (p.Gln207His) n.806G>T c.405G>T (p.Gln135His) n.852G>T c.321G>T (p.Gln107His) n.845G>T n.805G>T | gnomAD v4 |
1 | g.244863687C= | CA1231007384 | HNRNPU | c.299G= c.621G= (p.Gln207=) n.806G= c.405G= (p.Gln135=) n.852G= c.321G= (p.Gln107=) n.845G= n.805G= | |
1 | g.244863687C>G | CA345496294 | HNRNPU | c.299G>C c.621G>C (p.Gln207His) n.806G>C c.405G>C (p.Gln135His) n.852G>C c.321G>C (p.Gln107His) n.845G>C n.805G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863687C>T | CA1486765 | HNRNPU | c.299G>A c.621G>A (p.Gln207=) n.806G>A c.405G>A (p.Gln135=) n.852G>A c.321G>A (p.Gln107=) n.845G>A n.805G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863687dup | CA2697547783 | HNRNPU | c.299dup c.621dup (p.Gln208AlafsTer6) c.621dup (p.Gln208AlafsTer16) n.806dup c.405dup (p.Gln136AlafsTer16) n.852dup c.321dup (p.Gln108AlafsTer?) n.845dup n.805dup | ClinVar |
1 | g.244863688T>A | CA345496297 | HNRNPU | c.298A>T c.620A>T (p.Gln207Leu) n.805A>T c.404A>T (p.Gln135Leu) n.851A>T c.320A>T (p.Gln107Leu) n.844A>T n.804A>T | |
1 | g.244863688T>C | CA345496299 | HNRNPU | c.298A>G c.620A>G (p.Gln207Arg) n.805A>G c.404A>G (p.Gln135Arg) n.851A>G c.320A>G (p.Gln107Arg) n.844A>G n.804A>G | |
1 | g.244863688T>G | CA345496300 | HNRNPU | c.298A>C c.620A>C (p.Gln207Pro) n.805A>C c.404A>C (p.Gln135Pro) n.851A>C c.320A>C (p.Gln107Pro) n.844A>C n.804A>C | |
1 | g.244863689G>A | CA345496307 | HNRNPU | c.297C>T c.619C>T (p.Gln207Ter) n.804C>T c.403C>T (p.Gln135Ter) n.850C>T c.319C>T (p.Gln107Ter) n.843C>T n.803C>T | |
1 | g.244863689G>C | CA345496305 | HNRNPU | c.297C>G c.619C>G (p.Gln207Glu) n.804C>G c.403C>G (p.Gln135Glu) n.850C>G c.319C>G (p.Gln107Glu) n.843C>G n.803C>G | |
1 | g.244863689G>T | CA345496303 | HNRNPU | c.297C>A c.619C>A (p.Gln207Lys) n.804C>A c.403C>A (p.Gln135Lys) n.850C>A c.319C>A (p.Gln107Lys) n.843C>A n.803C>A | gnomAD v4 |
1 | g.244863689_244863692delinsGGCC | CA1231007385 | HNRNPU | c.294_297delinsGGCC c.616_619delinsGGCC (p.Gly206=) n.801_804delinsGGCC c.400_403delinsGGCC (p.Gly134=) n.847_850delinsGGCC c.316_319delinsGGCC (p.Gly106=) n.840_843delinsGGCC n.800_803delinsGGCC | |
1 | g.244863690G>A | CA424402516 | HNRNPU | c.296C>T c.618C>T (p.Gly206=) n.803C>T c.402C>T (p.Gly134=) n.849C>T c.318C>T (p.Gly106=) n.842C>T n.802C>T | ClinVar dbSNP gnomAD v4 |
1 | g.244863690G>C | CA424402519 | HNRNPU | c.296C>G c.618C>G (p.Gly206=) n.803C>G c.402C>G (p.Gly134=) n.849C>G c.318C>G (p.Gly106=) n.842C>G n.802C>G | |
1 | g.244863690G= | CA1231007386 | HNRNPU | c.296C= c.618C= (p.Gly206=) n.803C= c.402C= (p.Gly134=) n.849C= c.318C= (p.Gly106=) n.842C= n.802C= | |
1 | g.244863690G>T | CA424402518 | HNRNPU | c.296C>A c.618C>A (p.Gly206=) n.803C>A c.402C>A (p.Gly134=) n.849C>A c.318C>A (p.Gly106=) n.842C>A n.802C>A | gnomAD v4 |
1 | g.244863690_244863692del | CA424402517 | HNRNPU | c.294_296del c.616_618del (p.Gly206del) n.801_803del c.400_402del (p.Gly134del) n.847_849del c.316_318del (p.Gly106del) n.840_842del n.800_802del | dbSNP |
1 | g.244863691C>A | CA345496310 | HNRNPU | c.295G>T c.617G>T (p.Gly206Val) n.802G>T c.401G>T (p.Gly134Val) n.848G>T c.317G>T (p.Gly106Val) n.841G>T n.801G>T | gnomAD v4 |
1 | g.244863691C= | CA1231007387 | HNRNPU | c.295G= c.617G= (p.Gly206=) n.802G= c.401G= (p.Gly134=) n.848G= c.317G= (p.Gly106=) n.841G= n.801G= | |
1 | g.244863691C>G | CA1486766 | HNRNPU | c.295G>C c.617G>C (p.Gly206Ala) n.802G>C c.401G>C (p.Gly134Ala) n.848G>C c.317G>C (p.Gly106Ala) n.841G>C n.801G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863691C>T | CA345496314 | HNRNPU | c.295G>A c.617G>A (p.Gly206Asp) n.802G>A c.401G>A (p.Gly134Asp) n.848G>A c.317G>A (p.Gly106Asp) n.841G>A n.801G>A | gnomAD v4 |
1 | g.244863691_244863693del | CA345496315 | HNRNPU | c.293_295del c.615_617del (p.Gln205_Gly206delinsHis) n.800_802del c.399_401del (p.Gln133_Gly134delinsHis) n.846_848del c.315_317del (p.Gln105_Gly106delinsHis) n.839_841del n.799_801del | |
1 | g.244863692C>A | CA345496318 | HNRNPU | c.294G>T c.616G>T (p.Gly206Cys) n.801G>T c.400G>T (p.Gly134Cys) n.847G>T c.316G>T (p.Gly106Cys) n.840G>T n.800G>T | gnomAD v4 |
1 | g.244863692C= | CA1231007388 | HNRNPU | c.294G= c.616G= (p.Gly206=) n.801G= c.400G= (p.Gly134=) n.847G= c.316G= (p.Gly106=) n.840G= n.800G= | |
1 | g.244863692C>G | CA345496320 | HNRNPU | c.294G>C c.616G>C (p.Gly206Arg) n.801G>C c.400G>C (p.Gly134Arg) n.847G>C c.316G>C (p.Gly106Arg) n.840G>C n.800G>C | |
1 | g.244863692C>T | CA1486767 | HNRNPU | c.294G>A c.616G>A (p.Gly206Ser) n.801G>A c.400G>A (p.Gly134Ser) n.847G>A c.316G>A (p.Gly106Ser) n.840G>A n.800G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863693C>A | CA345496327 | HNRNPU | c.293G>T c.615G>T (p.Gln205His) n.800G>T c.399G>T (p.Gln133His) n.846G>T c.315G>T (p.Gln105His) n.839G>T n.799G>T | gnomAD v4 |
1 | g.244863693C= | CA1231007389 | HNRNPU | c.293G= c.615G= (p.Gln205=) n.800G= c.399G= (p.Gln133=) n.846G= c.315G= (p.Gln105=) n.839G= n.799G= | |
1 | g.244863693C>G | CA345496329 | HNRNPU | c.293G>C c.615G>C (p.Gln205His) n.800G>C c.399G>C (p.Gln133His) n.846G>C c.315G>C (p.Gln105His) n.839G>C n.799G>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863693C>T | CA424402522 | HNRNPU | c.293G>A c.615G>A (p.Gln205=) n.800G>A c.399G>A (p.Gln133=) n.846G>A c.315G>A (p.Gln105=) n.839G>A n.799G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |