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.244863795_244863825delinsTTGCTGCTGCGTCGCCGGCGGTTGAGGCTGC | CA1231007447 | HNRNPU | c.161_191delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA c.483_513delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA (p.Gln161=) n.668_698delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA c.267_297delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA (p.Gln89=) n.714_744delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA c.183_213delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA (p.Gln61=) n.707_737delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA n.667_697delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA | |
1 | g.244863800_244863829del | CA1231007448 | HNRNPU | c.161_190del c.483_512del (p.Gln162_Gln171del) n.668_697del c.267_296del (p.Gln90_Gln99del) n.714_743del c.183_212del (p.Gln62_Gln71del) n.707_736del n.667_696del | dbSNP |
1 | g.244863827_244863829dup | CA1231007462 | HNRNPU | c.163_165dup c.485_487dup (p.Gln162_Pro163insGln) n.670_672dup c.269_271dup (p.Gln90_Pro91insGln) n.716_718dup c.185_187dup (p.Gln62_Pro63insGln) n.709_711dup n.669_671dup | dbSNP |
1 | g.244863825C>A | CA345496895 | HNRNPU | c.161G>T c.483G>T (p.Gln161His) n.668G>T c.267G>T (p.Gln89His) n.714G>T c.183G>T (p.Gln61His) n.707G>T n.667G>T | |
1 | g.244863825C= | CA1231007464 | HNRNPU | c.161G= c.483G= (p.Gln161=) n.668G= c.267G= (p.Gln89=) n.714G= c.183G= (p.Gln61=) n.707G= n.667G= | |
1 | g.244863825C>G | CA345496897 | HNRNPU | c.161G>C c.483G>C (p.Gln161His) n.668G>C c.267G>C (p.Gln89His) n.714G>C c.183G>C (p.Gln61His) n.707G>C n.667G>C | |
1 | g.244863825C>T | CA424402668 | HNRNPU | c.161G>A c.483G>A (p.Gln161=) n.668G>A c.267G>A (p.Gln89=) n.714G>A c.183G>A (p.Gln61=) n.707G>A n.667G>A | dbSNP gnomAD v4 |
1 | g.244863826T>A | CA345496900 | HNRNPU | c.160A>T c.482A>T (p.Gln161Leu) n.667A>T c.266A>T (p.Gln89Leu) n.713A>T c.182A>T (p.Gln61Leu) n.706A>T n.666A>T | |
1 | g.244863826T>C | CA345496901 | HNRNPU | c.160A>G c.482A>G (p.Gln161Arg) n.667A>G c.266A>G (p.Gln89Arg) n.713A>G c.182A>G (p.Gln61Arg) n.706A>G n.666A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863826T>G | CA345496904 | HNRNPU | c.160A>C c.482A>C (p.Gln161Pro) n.667A>C c.266A>C (p.Gln89Pro) n.713A>C c.182A>C (p.Gln61Pro) n.706A>C n.666A>C | |
1 | g.244863826T= | CA1231007465 | HNRNPU | c.160A= c.482A= (p.Gln161=) n.667A= c.266A= (p.Gln89=) n.713A= c.182A= (p.Gln61=) n.706A= n.666A= | |
1 | g.244863827G>A | CA345496906 | HNRNPU | c.159C>T c.481C>T (p.Gln161Ter) n.666C>T c.265C>T (p.Gln89Ter) n.712C>T c.181C>T (p.Gln61Ter) n.705C>T n.665C>T | ClinVar dbSNP |
1 | g.244863827G>C | CA345496908 | HNRNPU | c.159C>G c.481C>G (p.Gln161Glu) n.666C>G c.265C>G (p.Gln89Glu) n.712C>G c.181C>G (p.Gln61Glu) n.705C>G n.665C>G | |
1 | g.244863827G= | CA1231007466 | HNRNPU | c.159C= c.481C= (p.Gln161=) n.666C= c.265C= (p.Gln89=) n.712C= c.181C= (p.Gln61=) n.705C= n.665C= | |
1 | g.244863827G>T | CA345496910 | HNRNPU | c.159C>A c.481C>A (p.Gln161Lys) n.666C>A c.265C>A (p.Gln89Lys) n.712C>A c.181C>A (p.Gln61Lys) n.705C>A n.665C>A | |
1 | g.244863828C>A | CA345496913 | HNRNPU | c.158G>T c.480G>T (p.Glu160Asp) n.665G>T c.264G>T (p.Glu88Asp) n.711G>T c.180G>T (p.Glu60Asp) n.704G>T n.664G>T | |
1 | g.244863828C>G | CA345496912 | HNRNPU | c.158G>C c.480G>C (p.Glu160Asp) n.665G>C c.264G>C (p.Glu88Asp) n.711G>C c.180G>C (p.Glu60Asp) n.704G>C n.664G>C | |
1 | g.244863828C>T | CA424402673 | HNRNPU | c.158G>A c.480G>A (p.Glu160=) n.665G>A c.264G>A (p.Glu88=) n.711G>A c.180G>A (p.Glu60=) n.704G>A n.664G>A | gnomAD v4 |
1 | g.244863829T>A | CA345496915 | HNRNPU | c.157A>T c.479A>T (p.Glu160Val) n.664A>T c.263A>T (p.Glu88Val) n.710A>T c.179A>T (p.Glu60Val) n.703A>T n.663A>T | ClinVar |
1 | g.244863829T>C | CA345496917 | HNRNPU | c.157A>G c.479A>G (p.Glu160Gly) n.664A>G c.263A>G (p.Glu88Gly) n.710A>G c.179A>G (p.Glu60Gly) n.703A>G n.663A>G | |
1 | g.244863829T>G | CA345496919 | HNRNPU | c.157A>C c.479A>C (p.Glu160Ala) n.664A>C c.263A>C (p.Glu88Ala) n.710A>C c.179A>C (p.Glu60Ala) n.703A>C n.663A>C | |
1 | g.244863830C>A | CA345496921 | HNRNPU | c.156G>T c.478G>T (p.Glu160Ter) n.663G>T c.262G>T (p.Glu88Ter) n.709G>T c.178G>T (p.Glu60Ter) n.702G>T n.662G>T | |
1 | g.244863830C= | CA1231007467 | HNRNPU | c.156G= c.478G= (p.Glu160=) n.663G= c.262G= (p.Glu88=) n.709G= c.178G= (p.Glu60=) n.702G= n.662G= | |
1 | g.244863830C>G | CA345496924 | HNRNPU | c.156G>C c.478G>C (p.Glu160Gln) n.663G>C c.262G>C (p.Glu88Gln) n.709G>C c.178G>C (p.Glu60Gln) n.702G>C n.662G>C | |
1 | g.244863830C>T | CA345496927 | HNRNPU | c.156G>A c.478G>A (p.Glu160Lys) n.663G>A c.262G>A (p.Glu88Lys) n.709G>A c.178G>A (p.Glu60Lys) n.702G>A n.662G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863831C>A | CA424402676 | HNRNPU | c.155G>T c.477G>T (p.Gly159=) n.662G>T c.261G>T (p.Gly87=) n.708G>T c.177G>T (p.Gly59=) n.701G>T n.661G>T | gnomAD v4 |
1 | g.244863831C>G | CA424402677 | HNRNPU | c.155G>C c.477G>C (p.Gly159=) n.662G>C c.261G>C (p.Gly87=) n.708G>C c.177G>C (p.Gly59=) n.701G>C n.661G>C | |
1 | g.244863831C>T | CA424402680 | HNRNPU | c.155G>A c.477G>A (p.Gly159=) n.662G>A c.261G>A (p.Gly87=) n.708G>A c.177G>A (p.Gly59=) n.701G>A n.661G>A | |
1 | g.244863832C>A | CA345496928 | HNRNPU | c.154G>T c.476G>T (p.Gly159Val) n.661G>T c.260G>T (p.Gly87Val) n.707G>T c.176G>T (p.Gly59Val) n.700G>T n.660G>T | |
1 | g.244863832C>G | CA345496929 | HNRNPU | c.154G>C c.476G>C (p.Gly159Ala) n.661G>C c.260G>C (p.Gly87Ala) n.707G>C c.176G>C (p.Gly59Ala) n.700G>C n.660G>C | |
1 | g.244863832C>T | CA345496930 | HNRNPU | c.154G>A c.476G>A (p.Gly159Glu) n.661G>A c.260G>A (p.Gly87Glu) n.707G>A c.176G>A (p.Gly59Glu) n.700G>A n.660G>A | |
1 | g.244863833C>A | CA345496931 | HNRNPU | c.153G>T c.475G>T (p.Gly159Trp) n.660G>T c.259G>T (p.Gly87Trp) n.706G>T c.175G>T (p.Gly59Trp) n.699G>T n.659G>T | |
1 | g.244863833C= | CA1231007468 | HNRNPU | c.153G= c.475G= (p.Gly159=) n.660G= c.259G= (p.Gly87=) n.706G= c.175G= (p.Gly59=) n.699G= n.659G= | |
1 | g.244863833C>G | CA345496933 | HNRNPU | c.153G>C c.475G>C (p.Gly159Arg) n.660G>C c.259G>C (p.Gly87Arg) n.706G>C c.175G>C (p.Gly59Arg) n.699G>C n.659G>C | dbSNP gnomAD v4 |
1 | g.244863833C>T | CA345496938 | HNRNPU | c.153G>A c.475G>A (p.Gly159Arg) n.660G>A c.259G>A (p.Gly87Arg) n.706G>A c.175G>A (p.Gly59Arg) n.699G>A n.659G>A | |
1 | g.244863834G>A | CA424402683 | HNRNPU | c.152C>T c.474C>T (p.His158=) n.659C>T c.258C>T (p.His86=) n.705C>T c.174C>T (p.His58=) n.698C>T n.658C>T | dbSNP |
1 | g.244863834G>C | CA345496940 | HNRNPU | c.152C>G c.474C>G (p.His158Gln) n.659C>G c.258C>G (p.His86Gln) n.705C>G c.174C>G (p.His58Gln) n.698C>G n.658C>G | |
1 | g.244863834G= | CA1231007469 | HNRNPU | c.152C= c.474C= (p.His158=) n.659C= c.258C= (p.His86=) n.705C= c.174C= (p.His58=) n.698C= n.658C= | |
1 | g.244863834G>T | CA345496942 | HNRNPU | c.152C>A c.474C>A (p.His158Gln) n.659C>A c.258C>A (p.His86Gln) n.705C>A c.174C>A (p.His58Gln) n.698C>A n.658C>A | |
1 | g.244863835T>A | CA345496946 | HNRNPU | c.151A>T c.473A>T (p.His158Leu) n.658A>T c.257A>T (p.His86Leu) n.704A>T c.173A>T (p.His58Leu) n.697A>T n.657A>T | |
1 | g.244863835T>C | CA345496947 | HNRNPU | c.151A>G c.473A>G (p.His158Arg) n.658A>G c.257A>G (p.His86Arg) n.704A>G c.173A>G (p.His58Arg) n.697A>G n.657A>G | dbSNP gnomAD v4 |
1 | g.244863835T>G | CA345496945 | HNRNPU | c.151A>C c.473A>C (p.His158Pro) n.658A>C c.257A>C (p.His86Pro) n.704A>C c.173A>C (p.His58Pro) n.697A>C n.657A>C | |
1 | g.244863835T= | CA1231007470 | HNRNPU | c.151A= c.473A= (p.His158=) n.658A= c.257A= (p.His86=) n.704A= c.173A= (p.His58=) n.697A= n.657A= | |
1 | g.244863836G>A | CA345496948 | HNRNPU | c.150C>T c.472C>T (p.His158Tyr) n.657C>T c.256C>T (p.His86Tyr) n.703C>T c.172C>T (p.His58Tyr) n.696C>T n.656C>T | |
1 | g.244863836G>C | CA345496950 | HNRNPU | c.150C>G c.472C>G (p.His158Asp) n.657C>G c.256C>G (p.His86Asp) n.703C>G c.172C>G (p.His58Asp) n.696C>G n.656C>G | |
1 | g.244863836G>T | CA345496949 | HNRNPU | c.150C>A c.472C>A (p.His158Asn) n.657C>A c.256C>A (p.His86Asn) n.703C>A c.172C>A (p.His58Asn) n.696C>A n.656C>A | |
1 | g.244863837C>A | CA424402685 | HNRNPU | c.149G>T c.471G>T (p.Gly157=) n.656G>T c.255G>T (p.Gly85=) n.702G>T c.171G>T (p.Gly57=) n.695G>T n.655G>T | |
1 | g.244863837C>G | CA424402686 | HNRNPU | c.149G>C c.471G>C (p.Gly157=) n.656G>C c.255G>C (p.Gly85=) n.702G>C c.171G>C (p.Gly57=) n.695G>C n.655G>C | |
1 | g.244863837C>T | CA424402687 | HNRNPU | c.149G>A c.471G>A (p.Gly157=) n.656G>A c.255G>A (p.Gly85=) n.702G>A c.171G>A (p.Gly57=) n.695G>A n.655G>A | |
1 | g.244863838C>A | CA345496951 | HNRNPU | c.148G>T c.470G>T (p.Gly157Val) n.655G>T c.254G>T (p.Gly85Val) n.701G>T c.170G>T (p.Gly57Val) n.694G>T n.654G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.244863838C= | CA1231007471 | HNRNPU | c.148G= c.470G= (p.Gly157=) n.655G= c.254G= (p.Gly85=) n.701G= c.170G= (p.Gly57=) n.694G= n.654G= | |
1 | g.244863838C>G | CA345496954 | HNRNPU | c.148G>C c.470G>C (p.Gly157Ala) n.655G>C c.254G>C (p.Gly85Ala) n.701G>C c.170G>C (p.Gly57Ala) n.694G>C n.654G>C | gnomAD v4 |
1 | g.244863838C>T | CA345496952 | HNRNPU | c.148G>A c.470G>A (p.Gly157Glu) n.655G>A c.254G>A (p.Gly85Glu) n.701G>A c.170G>A (p.Gly57Glu) n.694G>A n.654G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.244863839C>A | CA345496956 | HNRNPU | c.147G>T c.469G>T (p.Gly157Trp) n.654G>T c.253G>T (p.Gly85Trp) n.700G>T c.169G>T (p.Gly57Trp) n.693G>T n.653G>T | |
1 | g.244863839C= | CA1231007472 | HNRNPU | c.147G= c.469G= (p.Gly157=) n.654G= c.253G= (p.Gly85=) n.700G= c.169G= (p.Gly57=) n.693G= n.653G= | |
1 | g.244863839C>G | CA345496960 | HNRNPU | c.147G>C c.469G>C (p.Gly157Arg) n.654G>C c.253G>C (p.Gly85Arg) n.700G>C c.169G>C (p.Gly57Arg) n.693G>C n.653G>C | ClinVar dbSNP |
1 | g.244863839C>T | CA345496958 | HNRNPU | c.147G>A c.469G>A (p.Gly157Arg) n.654G>A c.253G>A (p.Gly85Arg) n.700G>A c.169G>A (p.Gly57Arg) n.693G>A n.653G>A | ClinVar |
1 | g.244863840G>A | CA424402688 | HNRNPU | c.146C>T c.468C>T (p.Asn156=) n.653C>T c.252C>T (p.Asn84=) n.699C>T c.168C>T (p.Asn56=) n.692C>T n.652C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.244863840G>C | CA345496961 | HNRNPU | c.146C>G c.468C>G (p.Asn156Lys) n.653C>G c.252C>G (p.Asn84Lys) n.699C>G c.168C>G (p.Asn56Lys) n.692C>G n.652C>G | dbSNP |
1 | g.244863840G= | CA1231007473 | HNRNPU | c.146C= c.468C= (p.Asn156=) n.653C= c.252C= (p.Asn84=) n.699C= c.168C= (p.Asn56=) n.692C= n.652C= | |
1 | g.244863840G>T | CA345496963 | HNRNPU | c.146C>A c.468C>A (p.Asn156Lys) n.653C>A c.252C>A (p.Asn84Lys) n.699C>A c.168C>A (p.Asn56Lys) n.692C>A n.652C>A | ClinVar dbSNP |
1 | g.244863841T>A | CA345496966 | HNRNPU | c.145A>T c.467A>T (p.Asn156Ile) n.652A>T c.251A>T (p.Asn84Ile) n.698A>T c.167A>T (p.Asn56Ile) n.691A>T n.651A>T | |
1 | g.244863841T>C | CA345496968 | HNRNPU | c.145A>G c.467A>G (p.Asn156Ser) n.652A>G c.251A>G (p.Asn84Ser) n.698A>G c.167A>G (p.Asn56Ser) n.691A>G n.651A>G | |
1 | g.244863841T>G | CA345496969 | HNRNPU | c.145A>C c.467A>C (p.Asn156Thr) n.652A>C c.251A>C (p.Asn84Thr) n.698A>C c.167A>C (p.Asn56Thr) n.691A>C n.651A>C | |
1 | g.244863842T>A | CA345496976 | HNRNPU | c.144A>T c.466A>T (p.Asn156Tyr) n.651A>T c.250A>T (p.Asn84Tyr) n.697A>T c.166A>T (p.Asn56Tyr) n.690A>T n.650A>T | |
1 | g.244863842T>C | CA345496977 | HNRNPU | c.144A>G c.466A>G (p.Asn156Asp) n.651A>G c.250A>G (p.Asn84Asp) n.697A>G c.166A>G (p.Asn56Asp) n.690A>G n.650A>G | |
1 | g.244863842T>G | CA345496979 | HNRNPU | c.144A>C c.466A>C (p.Asn156His) n.651A>C c.250A>C (p.Asn84His) n.697A>C c.166A>C (p.Asn56His) n.690A>C n.650A>C | |
1 | g.244863842_244863854del | CA2586968603 | HNRNPU | c.132_144del c.454_466del (p.Ala152ThrfsTer?) n.639_651del c.238_250del (p.Ala80ThrfsTer?) n.685_697del c.154_166del (p.Ala52ThrfsTer?) n.678_690del n.638_650del | |
1 | g.244863843C>A | CA345496981 | HNRNPU | c.143G>T c.465G>T (p.Glu155Asp) n.650G>T c.249G>T (p.Glu83Asp) n.696G>T c.165G>T (p.Glu55Asp) n.689G>T n.649G>T | ClinVar dbSNP |
1 | g.244863843C= | CA1231007474 | HNRNPU | c.143G= c.465G= (p.Glu155=) n.650G= c.249G= (p.Glu83=) n.696G= c.165G= (p.Glu55=) n.689G= n.649G= | |
1 | g.244863843C>G | CA345496982 | HNRNPU | c.143G>C c.465G>C (p.Glu155Asp) n.650G>C c.249G>C (p.Glu83Asp) n.696G>C c.165G>C (p.Glu55Asp) n.689G>C n.649G>C | |
1 | g.244863843C>T | CA1486792 | HNRNPU | c.143G>A c.465G>A (p.Glu155=) n.650G>A c.249G>A (p.Glu83=) n.696G>A c.165G>A (p.Glu55=) n.689G>A n.649G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863844T>A | CA345496989 | HNRNPU | c.142A>T c.464A>T (p.Glu155Val) n.649A>T c.248A>T (p.Glu83Val) n.695A>T c.164A>T (p.Glu55Val) n.688A>T n.648A>T | |
1 | g.244863844T>C | CA345496984 | HNRNPU | c.142A>G c.464A>G (p.Glu155Gly) n.649A>G c.248A>G (p.Glu83Gly) n.695A>G c.164A>G (p.Glu55Gly) n.688A>G n.648A>G | |
1 | g.244863844T>G | CA345496987 | HNRNPU | c.142A>C c.464A>C (p.Glu155Ala) n.649A>C c.248A>C (p.Glu83Ala) n.695A>C c.164A>C (p.Glu55Ala) n.688A>C n.648A>C | |
1 | g.244863845C>A | CA345496990 | HNRNPU | c.141G>T c.463G>T (p.Glu155Ter) n.648G>T c.247G>T (p.Glu83Ter) n.694G>T c.163G>T (p.Glu55Ter) n.687G>T n.647G>T | |
1 | g.244863845C= | CA1231007475 | HNRNPU | c.141G= c.463G= (p.Glu155=) n.648G= c.247G= (p.Glu83=) n.694G= c.163G= (p.Glu55=) n.687G= n.647G= | |
1 | g.244863845C>G | CA345496992 | HNRNPU | c.141G>C c.463G>C (p.Glu155Gln) n.648G>C c.247G>C (p.Glu83Gln) n.694G>C c.163G>C (p.Glu55Gln) n.687G>C n.647G>C | |
1 | g.244863845C>T | CA345496993 | HNRNPU | c.141G>A c.463G>A (p.Glu155Lys) n.648G>A c.247G>A (p.Glu83Lys) n.694G>A c.163G>A (p.Glu55Lys) n.687G>A n.647G>A | dbSNP gnomAD v4 |
1 | g.244863846G>A | CA424402690 | HNRNPU | c.140C>T c.462C>T (p.Asp154=) n.647C>T c.246C>T (p.Asp82=) n.693C>T c.162C>T (p.Asp54=) n.686C>T n.646C>T | |
1 | g.244863846G>C | CA345496995 | HNRNPU | c.140C>G c.462C>G (p.Asp154Glu) n.647C>G c.246C>G (p.Asp82Glu) n.693C>G c.162C>G (p.Asp54Glu) n.686C>G n.646C>G | |
1 | g.244863846G>T | CA345496996 | HNRNPU | c.140C>A c.462C>A (p.Asp154Glu) n.647C>A c.246C>A (p.Asp82Glu) n.693C>A c.162C>A (p.Asp54Glu) n.686C>A n.646C>A | |
1 | g.244863847T>A | CA345496998 | HNRNPU | c.139A>T c.461A>T (p.Asp154Val) n.646A>T c.245A>T (p.Asp82Val) n.692A>T c.161A>T (p.Asp54Val) n.685A>T n.645A>T | |
1 | g.244863847T>C | CA345497000 | HNRNPU | c.139A>G c.461A>G (p.Asp154Gly) n.646A>G c.245A>G (p.Asp82Gly) n.692A>G c.161A>G (p.Asp54Gly) n.685A>G n.645A>G | gnomAD v4 |
1 | g.244863847T>G | CA345497002 | HNRNPU | c.139A>C c.461A>C (p.Asp154Ala) n.646A>C c.245A>C (p.Asp82Ala) n.692A>C c.161A>C (p.Asp54Ala) n.685A>C n.645A>C | |
1 | g.244863848C>A | CA345497004 | HNRNPU | c.138G>T c.460G>T (p.Asp154Tyr) n.645G>T c.244G>T (p.Asp82Tyr) n.691G>T c.160G>T (p.Asp54Tyr) n.684G>T n.644G>T | gnomAD v4 |
1 | g.244863848C>G | CA345497005 | HNRNPU | c.138G>C c.460G>C (p.Asp154His) n.645G>C c.244G>C (p.Asp82His) n.691G>C c.160G>C (p.Asp54His) n.684G>C n.644G>C | |
1 | g.244863848C>T | CA345497008 | HNRNPU | c.138G>A c.460G>A (p.Asp154Asn) n.645G>A c.244G>A (p.Asp82Asn) n.691G>A c.160G>A (p.Asp54Asn) n.684G>A n.644G>A | gnomAD v4 |
1 | g.244863849G>A | CA1486793 | HNRNPU | c.137C>T c.459C>T (p.Gly153=) n.644C>T c.243C>T (p.Gly81=) n.690C>T c.159C>T (p.Gly53=) n.683C>T n.643C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.244863849G>C | CA424402691 | HNRNPU | c.137C>G c.459C>G (p.Gly153=) n.644C>G c.243C>G (p.Gly81=) n.690C>G c.159C>G (p.Gly53=) n.683C>G n.643C>G | |
1 | g.244863849G= | CA1231007476 | HNRNPU | c.137C= c.459C= (p.Gly153=) n.644C= c.243C= (p.Gly81=) n.690C= c.159C= (p.Gly53=) n.683C= n.643C= | |
1 | g.244863849G>T | CA424402692 | HNRNPU | c.137C>A c.459C>A (p.Gly153=) n.644C>A c.243C>A (p.Gly81=) n.690C>A c.159C>A (p.Gly53=) n.683C>A n.643C>A | gnomAD v4 |
1 | g.244863850C>A | CA345497013 | HNRNPU | c.136G>T c.458G>T (p.Gly153Val) n.643G>T c.242G>T (p.Gly81Val) n.689G>T c.158G>T (p.Gly53Val) n.682G>T n.642G>T | |
1 | g.244863850C= | CA1143649150 | HNRNPU | c.136G= c.458G= (p.Gly153=) n.643G= c.242G= (p.Gly81=) n.689G= c.158G= (p.Gly53=) n.682G= n.642G= | |
1 | g.244863850C>G | CA345497011 | HNRNPU | c.136G>C c.458G>C (p.Gly153Ala) n.643G>C c.242G>C (p.Gly81Ala) n.689G>C c.158G>C (p.Gly53Ala) n.682G>C n.642G>C | |
1 | g.244863850C>T | CA1486794 | HNRNPU | c.136G>A c.458G>A (p.Gly153Asp) n.643G>A c.242G>A (p.Gly81Asp) n.689G>A c.158G>A (p.Gly53Asp) n.682G>A n.642G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863851C>A | CA345497015 | HNRNPU | c.135G>T c.457G>T (p.Gly153Cys) n.642G>T c.241G>T (p.Gly81Cys) n.688G>T c.157G>T (p.Gly53Cys) n.681G>T n.641G>T | |
1 | g.244863851C= | CA1231007477 | HNRNPU | c.135G= c.457G= (p.Gly153=) n.642G= c.241G= (p.Gly81=) n.688G= c.157G= (p.Gly53=) n.681G= n.641G= | |
1 | g.244863851C>G | CA345497021 | HNRNPU | c.135G>C c.457G>C (p.Gly153Arg) n.642G>C c.241G>C (p.Gly81Arg) n.688G>C c.157G>C (p.Gly53Arg) n.681G>C n.641G>C | ClinVar dbSNP |
1 | g.244863851C>T | CA345497023 | HNRNPU | c.135G>A c.457G>A (p.Gly153Ser) n.642G>A c.241G>A (p.Gly81Ser) n.688G>A c.157G>A (p.Gly53Ser) n.681G>A n.641G>A | |
1 | g.244863852C>A | CA424402693 | HNRNPU | c.134G>T c.456G>T (p.Ala152=) n.641G>T c.240G>T (p.Ala80=) n.687G>T c.156G>T (p.Ala52=) n.680G>T n.640G>T | |
1 | g.244863852C= | CA1143949465 | HNRNPU | c.134G= c.456G= (p.Ala152=) n.641G= c.240G= (p.Ala80=) n.687G= c.156G= (p.Ala52=) n.680G= n.640G= | |
1 | g.244863852C>G | CA424402694 | HNRNPU | c.134G>C c.456G>C (p.Ala152=) n.641G>C c.240G>C (p.Ala80=) n.687G>C c.156G>C (p.Ala52=) n.680G>C n.640G>C | |
1 | g.244863852C>T | CA1486795 | HNRNPU | c.134G>A c.456G>A (p.Ala152=) n.641G>A c.240G>A (p.Ala80=) n.687G>A c.156G>A (p.Ala52=) n.680G>A n.640G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863853G>A | CA345497029 | HNRNPU | c.133C>T c.455C>T (p.Ala152Val) n.640C>T c.239C>T (p.Ala80Val) n.686C>T c.155C>T (p.Ala52Val) n.679C>T n.639C>T | ClinVar dbSNP gnomAD v4 |
1 | g.244863853G>C | CA345497030 | HNRNPU | c.133C>G c.455C>G (p.Ala152Gly) n.640C>G c.239C>G (p.Ala80Gly) n.686C>G c.155C>G (p.Ala52Gly) n.679C>G n.639C>G | |
1 | g.244863853G= | CA1231007478 | HNRNPU | c.133C= c.455C= (p.Ala152=) n.640C= c.239C= (p.Ala80=) n.686C= c.155C= (p.Ala52=) n.679C= n.639C= | |
1 | g.244863853G>T | CA345497032 | HNRNPU | c.133C>A c.455C>A (p.Ala152Glu) n.640C>A c.239C>A (p.Ala80Glu) n.686C>A c.155C>A (p.Ala52Glu) n.679C>A n.639C>A | gnomAD v4 |
1 | g.244863854C>A | CA345497034 | HNRNPU | c.132G>T c.454G>T (p.Ala152Ser) n.639G>T c.238G>T (p.Ala80Ser) n.685G>T c.154G>T (p.Ala52Ser) n.678G>T n.638G>T | |
1 | g.244863854C>G | CA345497035 | HNRNPU | c.132G>C c.454G>C (p.Ala152Pro) n.639G>C c.238G>C (p.Ala80Pro) n.685G>C c.154G>C (p.Ala52Pro) n.678G>C n.638G>C | |
1 | g.244863854C>T | CA345497037 | HNRNPU | c.132G>A c.454G>A (p.Ala152Thr) n.639G>A c.238G>A (p.Ala80Thr) n.685G>A c.154G>A (p.Ala52Thr) n.678G>A n.638G>A | |
1 | g.244863855G>A | CA1486796 | HNRNPU | c.131C>T c.453C>T (p.Gly151=) n.638C>T c.237C>T (p.Gly79=) n.684C>T c.153C>T (p.Gly51=) n.677C>T n.637C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863855G>C | CA424402695 | HNRNPU | c.131C>G c.453C>G (p.Gly151=) n.638C>G c.237C>G (p.Gly79=) n.684C>G c.153C>G (p.Gly51=) n.677C>G n.637C>G | |
1 | g.244863855G= | CA1231007479 | HNRNPU | c.131C= c.453C= (p.Gly151=) n.638C= c.237C= (p.Gly79=) n.684C= c.153C= (p.Gly51=) n.677C= n.637C= | |
1 | g.244863855G>T | CA424402696 | HNRNPU | c.131C>A c.453C>A (p.Gly151=) n.638C>A c.237C>A (p.Gly79=) n.684C>A c.153C>A (p.Gly51=) n.677C>A n.637C>A | dbSNP gnomAD v4 |
1 | g.244863856C>A | CA345497040 | HNRNPU | c.130G>T c.452G>T (p.Gly151Val) n.637G>T c.236G>T (p.Gly79Val) n.683G>T c.152G>T (p.Gly51Val) n.676G>T n.636G>T | |
1 | g.244863856C>G | CA345497042 | HNRNPU | c.130G>C c.452G>C (p.Gly151Ala) n.637G>C c.236G>C (p.Gly79Ala) n.683G>C c.152G>C (p.Gly51Ala) n.676G>C n.636G>C | |
1 | g.244863856C>T | CA345497041 | HNRNPU | c.130G>A c.452G>A (p.Gly151Asp) n.637G>A c.236G>A (p.Gly79Asp) n.683G>A c.152G>A (p.Gly51Asp) n.676G>A n.636G>A | |
1 | g.244863857C>A | CA1486797 | HNRNPU | c.129G>T c.451G>T (p.Gly151Cys) n.636G>T c.235G>T (p.Gly79Cys) n.682G>T c.151G>T (p.Gly51Cys) n.675G>T n.635G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863857C= | CA1147529447 | HNRNPU | c.129G= c.451G= (p.Gly151=) n.636G= c.235G= (p.Gly79=) n.682G= c.151G= (p.Gly51=) n.675G= n.635G= | |
1 | g.244863857C>G | CA345497045 | HNRNPU | c.129G>C c.451G>C (p.Gly151Arg) n.636G>C c.235G>C (p.Gly79Arg) n.682G>C c.151G>C (p.Gly51Arg) n.675G>C n.635G>C | |
1 | g.244863857C>T | CA1486798 | HNRNPU | c.129G>A c.451G>A (p.Gly151Ser) n.636G>A c.235G>A (p.Gly79Ser) n.682G>A c.151G>A (p.Gly51Ser) n.675G>A n.635G>A | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.244863858_244863860dup | CA2748454211 | HNRNPU | c.127_129dup c.449_451dup (p.Glu150_Gly151insGlu) n.634_636dup c.233_235dup (p.Glu78_Gly79insGlu) n.680_682dup c.149_151dup (p.Glu50_Gly51insGlu) n.673_675dup n.633_635dup | |
1 | g.244863858T>A | CA345497048 | HNRNPU | c.128A>T c.450A>T (p.Glu150Asp) n.635A>T c.234A>T (p.Glu78Asp) n.681A>T c.150A>T (p.Glu50Asp) n.674A>T n.634A>T | |
1 | g.244863858T>C | CA424402697 | HNRNPU | c.128A>G c.450A>G (p.Glu150=) n.635A>G c.234A>G (p.Glu78=) n.681A>G c.150A>G (p.Glu50=) n.674A>G n.634A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863858T>G | CA345497050 | HNRNPU | c.128A>C c.450A>C (p.Glu150Asp) n.635A>C c.234A>C (p.Glu78Asp) n.681A>C c.150A>C (p.Glu50Asp) n.674A>C n.634A>C | ClinVar |
1 | g.244863858T= | CA1231007480 | HNRNPU | c.128A= c.450A= (p.Glu150=) n.635A= c.234A= (p.Glu78=) n.681A= c.150A= (p.Glu50=) n.674A= n.634A= | |
1 | g.244863859T>A | CA345497053 | HNRNPU | c.127A>T c.449A>T (p.Glu150Val) n.634A>T c.233A>T (p.Glu78Val) n.680A>T c.149A>T (p.Glu50Val) n.673A>T n.633A>T | |
1 | g.244863859T>C | CA345497054 | HNRNPU | c.127A>G c.449A>G (p.Glu150Gly) n.634A>G c.233A>G (p.Glu78Gly) n.680A>G c.149A>G (p.Glu50Gly) n.673A>G n.633A>G | |
1 | g.244863859T>G | CA345497056 | HNRNPU | c.127A>C c.449A>C (p.Glu150Ala) n.634A>C c.233A>C (p.Glu78Ala) n.680A>C c.149A>C (p.Glu50Ala) n.673A>C n.633A>C | |
1 | g.244863860C>A | CA345497059 | HNRNPU | c.126G>T c.448G>T (p.Glu150Ter) n.633G>T c.232G>T (p.Glu78Ter) n.679G>T c.148G>T (p.Glu50Ter) n.672G>T n.632G>T | |
1 | g.244863860C= | CA1231007481 | HNRNPU | c.126G= c.448G= (p.Glu150=) n.633G= c.232G= (p.Glu78=) n.679G= c.148G= (p.Glu50=) n.672G= n.632G= | |
1 | g.244863860C>G | CA40505131 | HNRNPU | c.126G>C c.448G>C (p.Glu150Gln) n.633G>C c.232G>C (p.Glu78Gln) n.679G>C c.148G>C (p.Glu50Gln) n.672G>C n.632G>C | dbSNP |
1 | g.244863860C>T | CA345497061 | HNRNPU | c.126G>A c.448G>A (p.Glu150Lys) n.633G>A c.232G>A (p.Glu78Lys) n.679G>A c.148G>A (p.Glu50Lys) n.672G>A n.632G>A | |
1 | g.244863861C>A | CA345497065 | HNRNPU | c.125G>T c.447G>T (p.Glu149Asp) n.632G>T c.231G>T (p.Glu77Asp) n.678G>T c.147G>T (p.Glu49Asp) n.671G>T n.631G>T | |
1 | g.244863861C>G | CA345497063 | HNRNPU | c.125G>C c.447G>C (p.Glu149Asp) n.632G>C c.231G>C (p.Glu77Asp) n.678G>C c.147G>C (p.Glu49Asp) n.671G>C n.631G>C | |
1 | g.244863861C>T | CA424402698 | HNRNPU | c.125G>A c.447G>A (p.Glu149=) n.632G>A c.231G>A (p.Glu77=) n.678G>A c.147G>A (p.Glu49=) n.671G>A n.631G>A | |
1 | g.244863862T>A | CA345497068 | HNRNPU | c.124A>T c.446A>T (p.Glu149Val) n.631A>T c.230A>T (p.Glu77Val) n.677A>T c.146A>T (p.Glu49Val) n.670A>T n.630A>T | |
1 | g.244863862T>C | CA40505134 | HNRNPU | c.124A>G c.446A>G (p.Glu149Gly) n.631A>G c.230A>G (p.Glu77Gly) n.677A>G c.146A>G (p.Glu49Gly) n.670A>G n.630A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863862T>G | CA345497070 | HNRNPU | c.124A>C c.446A>C (p.Glu149Ala) n.631A>C c.230A>C (p.Glu77Ala) n.677A>C c.146A>C (p.Glu49Ala) n.670A>C n.630A>C | |
1 | g.244863862T= | CA1144069203 | HNRNPU | c.124A= c.446A= (p.Glu149=) n.631A= c.230A= (p.Glu77=) n.677A= c.146A= (p.Glu49=) n.670A= n.630A= | |
1 | g.244863867_244863884del | CA2580063537 | HNRNPU | c.107_124del c.429_446del (p.Asp143_Glu148del) n.614_631del c.213_230del (p.Asp71_Glu76del) n.660_677del c.129_146del (p.Asp43_Glu48del) n.653_670del n.613_630del | ClinVar |
1 | g.244863863C>A | CA345497076 | HNRNPU | c.123G>T c.445G>T (p.Glu149Ter) n.630G>T c.229G>T (p.Glu77Ter) n.676G>T c.145G>T (p.Glu49Ter) n.669G>T n.629G>T | |
1 | g.244863863C>G | CA345497079 | HNRNPU | c.123G>C c.445G>C (p.Glu149Gln) n.630G>C c.229G>C (p.Glu77Gln) n.676G>C c.145G>C (p.Glu49Gln) n.669G>C n.629G>C | |
1 | g.244863863C>T | CA345497080 | HNRNPU | c.123G>A c.445G>A (p.Glu149Lys) n.630G>A c.229G>A (p.Glu77Lys) n.676G>A c.145G>A (p.Glu49Lys) n.669G>A n.629G>A | |
1 | g.244863864T>A | CA345497083 | HNRNPU | c.122A>T c.444A>T (p.Glu148Asp) n.629A>T c.228A>T (p.Glu76Asp) n.675A>T c.144A>T (p.Glu48Asp) n.668A>T n.628A>T | |
1 | g.244863864T>C | CA424402699 | HNRNPU | c.122A>G c.444A>G (p.Glu148=) n.629A>G c.228A>G (p.Glu76=) n.675A>G c.144A>G (p.Glu48=) n.668A>G n.628A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863864T>G | CA345497085 | HNRNPU | c.122A>C c.444A>C (p.Glu148Asp) n.629A>C c.228A>C (p.Glu76Asp) n.675A>C c.144A>C (p.Glu48Asp) n.668A>C n.628A>C | |
1 | g.244863865T>A | CA345497088 | HNRNPU | c.121A>T c.443A>T (p.Glu148Val) n.628A>T c.227A>T (p.Glu76Val) n.674A>T c.143A>T (p.Glu48Val) n.667A>T n.627A>T | |
1 | g.244863865T>C | CA345497089 | HNRNPU | c.121A>G c.443A>G (p.Glu148Gly) n.628A>G c.227A>G (p.Glu76Gly) n.674A>G c.143A>G (p.Glu48Gly) n.667A>G n.627A>G | dbSNP |
1 | g.244863865T>G | CA345497091 | HNRNPU | c.121A>C c.443A>C (p.Glu148Ala) n.628A>C c.227A>C (p.Glu76Ala) n.674A>C c.143A>C (p.Glu48Ala) n.667A>C n.627A>C | |
1 | g.244863865T= | CA1231007482 | HNRNPU | c.121A= c.443A= (p.Glu148=) n.628A= c.227A= (p.Glu76=) n.674A= c.143A= (p.Glu48=) n.667A= n.627A= | |
1 | g.244863866C>A | CA345497093 | HNRNPU | c.120G>T c.442G>T (p.Glu148Ter) n.627G>T c.226G>T (p.Glu76Ter) n.673G>T c.142G>T (p.Glu48Ter) n.666G>T n.626G>T | |
1 | g.244863866C>G | CA345497094 | HNRNPU | c.120G>C c.442G>C (p.Glu148Gln) n.627G>C c.226G>C (p.Glu76Gln) n.673G>C c.142G>C (p.Glu48Gln) n.666G>C n.626G>C | |
1 | g.244863866C>T | CA345497096 | HNRNPU | c.120G>A c.442G>A (p.Glu148Lys) n.627G>A c.226G>A (p.Glu76Lys) n.673G>A c.142G>A (p.Glu48Lys) n.666G>A n.626G>A | gnomAD v4 |
1 | g.244863867G>A | CA424402702 | HNRNPU | c.119C>T c.441C>T (p.Asp147=) n.626C>T c.225C>T (p.Asp75=) n.672C>T c.141C>T (p.Asp47=) n.665C>T n.625C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863867G>C | CA1486799 | HNRNPU | c.119C>G c.441C>G (p.Asp147Glu) n.626C>G c.225C>G (p.Asp75Glu) n.672C>G c.141C>G (p.Asp47Glu) n.665C>G n.625C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863867G= | CA1145151615 | HNRNPU | c.119C= c.441C= (p.Asp147=) n.626C= c.225C= (p.Asp75=) n.672C= c.141C= (p.Asp47=) n.665C= n.625C= | |
1 | g.244863867G>T | CA345497097 | HNRNPU | c.119C>A c.441C>A (p.Asp147Glu) n.626C>A c.225C>A (p.Asp75Glu) n.672C>A c.141C>A (p.Asp47Glu) n.665C>A n.625C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863868T>A | CA345497098 | HNRNPU | c.118A>T c.440A>T (p.Asp147Val) n.625A>T c.224A>T (p.Asp75Val) n.671A>T c.140A>T (p.Asp47Val) n.664A>T n.624A>T | |
1 | g.244863868T>C | CA345497099 | HNRNPU | c.118A>G c.440A>G (p.Asp147Gly) n.625A>G c.224A>G (p.Asp75Gly) n.671A>G c.140A>G (p.Asp47Gly) n.664A>G n.624A>G | gnomAD v4 |
1 | g.244863868T>G | CA345497101 | HNRNPU | c.118A>C c.440A>C (p.Asp147Ala) n.625A>C c.224A>C (p.Asp75Ala) n.671A>C c.140A>C (p.Asp47Ala) n.664A>C n.624A>C | |
1 | g.244863868_244863870del | CA2748454213 | HNRNPU | c.116_118del c.438_440del (p.Asp147del) n.623_625del c.222_224del (p.Asp75del) n.669_671del c.138_140del (p.Asp47del) n.662_664del n.622_624del | |
1 | g.244863869C>A | CA345497103 | HNRNPU | c.117G>T c.439G>T (p.Asp147Tyr) n.624G>T c.223G>T (p.Asp75Tyr) n.670G>T c.139G>T (p.Asp47Tyr) n.663G>T n.623G>T | ClinVar dbSNP gnomAD v4 |
1 | g.244863869C= | CA1231007483 | HNRNPU | c.117G= c.439G= (p.Asp147=) n.624G= c.223G= (p.Asp75=) n.670G= c.139G= (p.Asp47=) n.663G= n.623G= | |
1 | g.244863869C>G | CA345497105 | HNRNPU | c.117G>C c.439G>C (p.Asp147His) n.624G>C c.223G>C (p.Asp75His) n.670G>C c.139G>C (p.Asp47His) n.663G>C n.623G>C | |
1 | g.244863869C>T | CA1486800 | HNRNPU | c.117G>A c.439G>A (p.Asp147Asn) n.624G>A c.223G>A (p.Asp75Asn) n.670G>A c.139G>A (p.Asp47Asn) n.663G>A n.623G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863870C>A | CA424402706 | HNRNPU | c.116G>T c.438G>T (p.Gly146=) n.623G>T c.222G>T (p.Gly74=) n.669G>T c.138G>T (p.Gly46=) n.662G>T n.622G>T | |
1 | g.244863870C= | CA1231007484 | HNRNPU | c.116G= c.438G= (p.Gly146=) n.623G= c.222G= (p.Gly74=) n.669G= c.138G= (p.Gly46=) n.662G= n.622G= | |
1 | g.244863870C>G | CA424402707 | HNRNPU | c.116G>C c.438G>C (p.Gly146=) n.623G>C c.222G>C (p.Gly74=) n.669G>C c.138G>C (p.Gly46=) n.662G>C n.622G>C | gnomAD v4 |
1 | g.244863870C>T | CA424402708 | HNRNPU | c.116G>A c.438G>A (p.Gly146=) n.623G>A c.222G>A (p.Gly74=) n.669G>A c.138G>A (p.Gly46=) n.662G>A n.622G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.244863871C>A | CA345497107 | HNRNPU | c.115G>T c.437G>T (p.Gly146Val) n.622G>T c.221G>T (p.Gly74Val) n.668G>T c.137G>T (p.Gly46Val) n.661G>T n.621G>T | |
1 | g.244863871C= | CA1231007485 | HNRNPU | c.115G= c.437G= (p.Gly146=) n.622G= c.221G= (p.Gly74=) n.668G= c.137G= (p.Gly46=) n.661G= n.621G= | |
1 | g.244863871C>G | CA345497109 | HNRNPU | c.115G>C c.437G>C (p.Gly146Ala) n.622G>C c.221G>C (p.Gly74Ala) n.668G>C c.137G>C (p.Gly46Ala) n.661G>C n.621G>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.244863871C>T | CA345497111 | HNRNPU | c.115G>A c.437G>A (p.Gly146Glu) n.622G>A c.221G>A (p.Gly74Glu) n.668G>A c.137G>A (p.Gly46Glu) n.661G>A n.621G>A | ClinVar |
1 | g.244863872C>A | CA345497113 | HNRNPU | c.114G>T c.436G>T (p.Gly146Trp) n.621G>T c.220G>T (p.Gly74Trp) n.667G>T c.136G>T (p.Gly46Trp) n.660G>T n.620G>T | |
1 | g.244863872C= | CA1231007486 | HNRNPU | c.114G= c.436G= (p.Gly146=) n.621G= c.220G= (p.Gly74=) n.667G= c.136G= (p.Gly46=) n.660G= n.620G= | |
1 | g.244863872C>G | CA40505154 | HNRNPU | c.114G>C c.436G>C (p.Gly146Arg) n.621G>C c.220G>C (p.Gly74Arg) n.667G>C c.136G>C (p.Gly46Arg) n.660G>C n.620G>C | ClinVar dbSNP |
1 | g.244863872C>T | CA345497115 | HNRNPU | c.114G>A c.436G>A (p.Gly146Arg) n.621G>A c.220G>A (p.Gly74Arg) n.667G>A c.136G>A (p.Gly46Arg) n.660G>A n.620G>A | |
1 | g.244863873G>A | CA424403078 | HNRNPU | c.113C>T c.435C>T (p.Leu145=) n.620C>T c.219C>T (p.Leu73=) n.666C>T c.135C>T (p.Leu45=) n.659C>T n.619C>T | ClinVar dbSNP |
1 | g.244863873G>C | CA424403081 | HNRNPU | c.113C>G c.435C>G (p.Leu145=) n.620C>G c.219C>G (p.Leu73=) n.666C>G c.135C>G (p.Leu45=) n.659C>G n.619C>G | dbSNP |
1 | g.244863873G= | CA1231007487 | HNRNPU | c.113C= c.435C= (p.Leu145=) n.620C= c.219C= (p.Leu73=) n.666C= c.135C= (p.Leu45=) n.659C= n.619C= | |
1 | g.244863873G>T | CA424403084 | HNRNPU | c.113C>A c.435C>A (p.Leu145=) n.620C>A c.219C>A (p.Leu73=) n.666C>A c.135C>A (p.Leu45=) n.659C>A n.619C>A | ClinVar |
1 | g.244863874A>C | CA345497119 | HNRNPU | c.112T>G c.434T>G (p.Leu145Arg) n.619T>G c.218T>G (p.Leu73Arg) n.665T>G c.134T>G (p.Leu45Arg) n.658T>G n.618T>G | |
1 | g.244863874A>G | CA345497121 | HNRNPU | c.112T>C c.434T>C (p.Leu145Pro) n.619T>C c.218T>C (p.Leu73Pro) n.665T>C c.134T>C (p.Leu45Pro) n.658T>C n.618T>C | |
1 | g.244863874A>T | CA345497118 | HNRNPU | c.112T>A c.434T>A (p.Leu145His) n.619T>A c.218T>A (p.Leu73His) n.665T>A c.134T>A (p.Leu45His) n.658T>A n.618T>A | |
1 | g.244863875G>A | CA1486801 | HNRNPU | c.111C>T c.433C>T (p.Leu145Phe) n.618C>T c.217C>T (p.Leu73Phe) n.664C>T c.133C>T (p.Leu45Phe) n.657C>T n.617C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863875G>C | CA345497122 | HNRNPU | c.111C>G c.433C>G (p.Leu145Val) n.618C>G c.217C>G (p.Leu73Val) n.664C>G c.133C>G (p.Leu45Val) n.657C>G n.617C>G | gnomAD v4 |
1 | g.244863875G= | CA1149036569 | HNRNPU | c.111C= c.433C= (p.Leu145=) n.618C= c.217C= (p.Leu73=) n.664C= c.133C= (p.Leu45=) n.657C= n.617C= | |
1 | g.244863875G>T | CA345497124 | HNRNPU | c.111C>A c.433C>A (p.Leu145Ile) n.618C>A c.217C>A (p.Leu73Ile) n.664C>A c.133C>A (p.Leu45Ile) n.657C>A n.617C>A | |
1 | g.244863876C>A | CA345497126 | HNRNPU | c.110G>T c.432G>T (p.Glu144Asp) n.617G>T c.216G>T (p.Glu72Asp) n.663G>T c.132G>T (p.Glu44Asp) n.656G>T n.616G>T | |
1 | g.244863876C>G | CA345497127 | HNRNPU | c.110G>C c.432G>C (p.Glu144Asp) n.617G>C c.216G>C (p.Glu72Asp) n.663G>C c.132G>C (p.Glu44Asp) n.656G>C n.616G>C | |
1 | g.244863876C>T | CA424403100 | HNRNPU | c.110G>A c.432G>A (p.Glu144=) n.617G>A c.216G>A (p.Glu72=) n.663G>A c.132G>A (p.Glu44=) n.656G>A n.616G>A | ClinVar |
1 | g.244863876_244863879delinsCTCA | CA1231007488 | HNRNPU | c.107_110delinsTGAG c.429_432delinsTGAG (p.Asp143=) n.614_617delinsTGAG c.213_216delinsTGAG (p.Asp71=) n.660_663delinsTGAG c.129_132delinsTGAG (p.Asp43=) n.653_656delinsTGAG n.613_616delinsTGAG | |
1 | g.244863877T>A | CA345497130 | HNRNPU | c.109A>T c.431A>T (p.Glu144Val) n.616A>T c.215A>T (p.Glu72Val) n.662A>T c.131A>T (p.Glu44Val) n.655A>T n.615A>T | |
1 | g.244863877T>C | CA345497129 | HNRNPU | c.109A>G c.431A>G (p.Glu144Gly) n.616A>G c.215A>G (p.Glu72Gly) n.662A>G c.131A>G (p.Glu44Gly) n.655A>G n.615A>G | |
1 | g.244863877T>G | CA345497128 | HNRNPU | c.109A>C c.431A>C (p.Glu144Ala) n.616A>C c.215A>C (p.Glu72Ala) n.662A>C c.131A>C (p.Glu44Ala) n.655A>C n.615A>C | |
1 | g.244863879_244863881del | CA40505161 | HNRNPU | c.107_109del c.429_431del (p.Asp143del) n.614_616del c.213_215del (p.Asp71del) n.660_662del c.129_131del (p.Asp43del) n.653_655del n.613_615del | dbSNP |
1 | g.244863878C>A | CA345497131 | HNRNPU | c.108G>T c.430G>T (p.Glu144Ter) n.615G>T c.214G>T (p.Glu72Ter) n.661G>T c.130G>T (p.Glu44Ter) n.654G>T n.614G>T | |
1 | g.244863878C>G | CA345497132 | HNRNPU | c.108G>C c.430G>C (p.Glu144Gln) n.615G>C c.214G>C (p.Glu72Gln) n.661G>C c.130G>C (p.Glu44Gln) n.654G>C n.614G>C | |
1 | g.244863878C>T | CA345497133 | HNRNPU | c.108G>A c.430G>A (p.Glu144Lys) n.615G>A c.214G>A (p.Glu72Lys) n.661G>A c.130G>A (p.Glu44Lys) n.654G>A n.614G>A | COSMIC COSMIC |
1 | g.244863879A= | CA1146418130 | HNRNPU | c.107T= c.429T= (p.Asp143=) n.614T= c.213T= (p.Asp71=) n.660T= c.129T= (p.Asp43=) n.653T= n.613T= | |
1 | g.244863879A>C | CA345497134 | HNRNPU | c.107T>G c.429T>G (p.Asp143Glu) n.614T>G c.213T>G (p.Asp71Glu) n.660T>G c.129T>G (p.Asp43Glu) n.653T>G n.613T>G | |
1 | g.244863879A>G | CA1486802 | HNRNPU | c.107T>C c.429T>C (p.Asp143=) n.614T>C c.213T>C (p.Asp71=) n.660T>C c.129T>C (p.Asp43=) n.653T>C n.613T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863879A>T | CA345497135 | HNRNPU | c.107T>A c.429T>A (p.Asp143Glu) n.614T>A c.213T>A (p.Asp71Glu) n.660T>A c.129T>A (p.Asp43Glu) n.653T>A n.613T>A | |
1 | g.244863880T>A | CA345497136 | HNRNPU | c.106A>T c.428A>T (p.Asp143Val) n.613A>T c.212A>T (p.Asp71Val) n.659A>T c.128A>T (p.Asp43Val) n.652A>T n.612A>T | |
1 | g.244863880T>C | CA345497138 | HNRNPU | c.106A>G c.428A>G (p.Asp143Gly) n.613A>G c.212A>G (p.Asp71Gly) n.659A>G c.128A>G (p.Asp43Gly) n.652A>G n.612A>G | gnomAD v4 |
1 | g.244863880T>G | CA345497137 | HNRNPU | c.106A>C c.428A>C (p.Asp143Ala) n.613A>C c.212A>C (p.Asp71Ala) n.659A>C c.128A>C (p.Asp43Ala) n.652A>C n.612A>C | |
1 | g.244863881C>A | CA345497139 | HNRNPU | c.105G>T c.427G>T (p.Asp143Tyr) n.612G>T c.211G>T (p.Asp71Tyr) n.658G>T c.127G>T (p.Asp43Tyr) n.651G>T n.611G>T | |
1 | g.244863881C>G | CA345497140 | HNRNPU | c.105G>C c.427G>C (p.Asp143His) n.612G>C c.211G>C (p.Asp71His) n.658G>C c.127G>C (p.Asp43His) n.651G>C n.611G>C | |
1 | g.244863881C>T | CA345497141 | HNRNPU | c.105G>A c.427G>A (p.Asp143Asn) n.612G>A c.211G>A (p.Asp71Asn) n.658G>A c.127G>A (p.Asp43Asn) n.651G>A n.611G>A | |
1 | g.244863882T>A | CA345497142 | HNRNPU | c.104A>T c.426A>T (p.Glu142Asp) n.611A>T c.210A>T (p.Glu70Asp) n.657A>T c.126A>T (p.Glu42Asp) n.650A>T n.610A>T | |
1 | g.244863882T>C | CA424403141 | HNRNPU | c.104A>G c.426A>G (p.Glu142=) n.611A>G c.210A>G (p.Glu70=) n.657A>G c.126A>G (p.Glu42=) n.650A>G n.610A>G | |
1 | g.244863882T>G | CA345497143 | HNRNPU | c.104A>C c.426A>C (p.Glu142Asp) n.611A>C c.210A>C (p.Glu70Asp) n.657A>C c.126A>C (p.Glu42Asp) n.650A>C n.610A>C | dbSNP gnomAD v4 |
1 | g.244863882T= | CA1231007489 | HNRNPU | c.104A= c.426A= (p.Glu142=) n.611A= c.210A= (p.Glu70=) n.657A= c.126A= (p.Glu42=) n.650A= n.610A= | |
1 | g.244863883T>A | CA345497144 | HNRNPU | c.103A>T c.425A>T (p.Glu142Val) n.610A>T c.209A>T (p.Glu70Val) n.656A>T c.125A>T (p.Glu42Val) n.649A>T n.609A>T | |
1 | g.244863883T>C | CA345497145 | HNRNPU | c.103A>G c.425A>G (p.Glu142Gly) n.610A>G c.209A>G (p.Glu70Gly) n.656A>G c.125A>G (p.Glu42Gly) n.649A>G n.609A>G | |
1 | g.244863883T>G | CA345497146 | HNRNPU | c.103A>C c.425A>C (p.Glu142Ala) n.610A>C c.209A>C (p.Glu70Ala) n.656A>C c.125A>C (p.Glu42Ala) n.649A>C n.609A>C | |
1 | g.244863884C>A | CA345497147 | HNRNPU | c.102G>T c.424G>T (p.Glu142Ter) n.609G>T c.208G>T (p.Glu70Ter) n.655G>T c.124G>T (p.Glu42Ter) n.648G>T n.608G>T | dbSNP |
1 | g.244863884C= | CA1231007490 | HNRNPU | c.102G= c.424G= (p.Glu142=) n.609G= c.208G= (p.Glu70=) n.655G= c.124G= (p.Glu42=) n.648G= n.608G= | |
1 | g.244863884C>G | CA345497148 | HNRNPU | c.102G>C c.424G>C (p.Glu142Gln) n.609G>C c.208G>C (p.Glu70Gln) n.655G>C c.124G>C (p.Glu42Gln) n.648G>C n.608G>C | |
1 | g.244863884C>T | CA345497149 | HNRNPU | c.102G>A c.424G>A (p.Glu142Lys) n.609G>A c.208G>A (p.Glu70Lys) n.655G>A c.124G>A (p.Glu42Lys) n.648G>A n.608G>A | |
1 | g.244863885C>A | CA1486803 | HNRNPU | c.101G>T c.423G>T (p.Gly141=) n.608G>T c.207G>T (p.Gly69=) n.654G>T c.123G>T (p.Gly41=) n.647G>T n.607G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863885C= | CA1231007491 | HNRNPU | c.101G= c.423G= (p.Gly141=) n.608G= c.207G= (p.Gly69=) n.654G= c.123G= (p.Gly41=) n.647G= n.607G= | |
1 | g.244863885C>G | CA424403154 | HNRNPU | c.101G>C c.423G>C (p.Gly141=) n.608G>C c.207G>C (p.Gly69=) n.654G>C c.123G>C (p.Gly41=) n.647G>C n.607G>C | dbSNP |
1 | g.244863885C>T | CA424403157 | HNRNPU | c.101G>A c.423G>A (p.Gly141=) n.608G>A c.207G>A (p.Gly69=) n.654G>A c.123G>A (p.Gly41=) n.647G>A n.607G>A | dbSNP gnomAD v4 |
1 | g.244863886C>A | CA345497152 | HNRNPU | c.100G>T c.422G>T (p.Gly141Val) n.607G>T c.206G>T (p.Gly69Val) n.653G>T c.122G>T (p.Gly41Val) n.646G>T n.606G>T | |
1 | g.244863886C>G | CA345497151 | HNRNPU | c.100G>C c.422G>C (p.Gly141Ala) n.607G>C c.206G>C (p.Gly69Ala) n.653G>C c.122G>C (p.Gly41Ala) n.646G>C n.606G>C | |
1 | g.244863886C>T | CA345497150 | HNRNPU | c.100G>A c.422G>A (p.Gly141Glu) n.607G>A c.206G>A (p.Gly69Glu) n.653G>A c.122G>A (p.Gly41Glu) n.646G>A n.606G>A | gnomAD v4 |
1 | g.244863886_244863887delinsTT | CA645532141 | HNRNPU | c.99_100delinsAA c.421_422delinsAA (p.Gly141Lys) n.606_607delinsAA c.205_206delinsAA (p.Gly69Lys) n.652_653delinsAA c.121_122delinsAA (p.Gly41Lys) n.645_646delinsAA n.605_606delinsAA | COSMIC COSMIC |
1 | g.244863887C>A | CA345497153 | HNRNPU | c.99G>T c.421G>T (p.Gly141Trp) n.606G>T c.205G>T (p.Gly69Trp) n.652G>T c.121G>T (p.Gly41Trp) n.645G>T n.605G>T | |
1 | g.244863887C>G | CA345497155 | HNRNPU | c.99G>C c.421G>C (p.Gly141Arg) n.606G>C c.205G>C (p.Gly69Arg) n.652G>C c.121G>C (p.Gly41Arg) n.645G>C n.605G>C | |
1 | g.244863887C>T | CA345497154 | HNRNPU | c.99G>A c.421G>A (p.Gly141Arg) n.606G>A c.205G>A (p.Gly69Arg) n.652G>A c.121G>A (p.Gly41Arg) n.645G>A n.605G>A | ClinVar |
1 | g.244863888T>A | CA345497156 | HNRNPU | c.98A>T c.420A>T (p.Glu140Asp) n.605A>T c.204A>T (p.Glu68Asp) n.651A>T c.120A>T (p.Glu40Asp) n.644A>T n.604A>T | |
1 | g.244863888T>C | CA424403168 | HNRNPU | c.98A>G c.420A>G (p.Glu140=) n.605A>G c.204A>G (p.Glu68=) n.651A>G c.120A>G (p.Glu40=) n.644A>G n.604A>G | |
1 | g.244863888T>G | CA345497157 | HNRNPU | c.98A>C c.420A>C (p.Glu140Asp) n.605A>C c.204A>C (p.Glu68Asp) n.651A>C c.120A>C (p.Glu40Asp) n.644A>C n.604A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.244863888T= | CA1231007492 | HNRNPU | c.98A= c.420A= (p.Glu140=) n.605A= c.204A= (p.Glu68=) n.651A= c.120A= (p.Glu40=) n.644A= n.604A= | |
1 | g.244863889T>A | CA345497158 | HNRNPU | c.97A>T c.419A>T (p.Glu140Val) n.604A>T c.203A>T (p.Glu68Val) n.650A>T c.119A>T (p.Glu40Val) n.643A>T n.603A>T | |
1 | g.244863889T>C | CA345497159 | HNRNPU | c.97A>G c.419A>G (p.Glu140Gly) n.604A>G c.203A>G (p.Glu68Gly) n.650A>G c.119A>G (p.Glu40Gly) n.643A>G n.603A>G | |
1 | g.244863889T>G | CA345497160 | HNRNPU | c.97A>C c.419A>C (p.Glu140Ala) n.604A>C c.203A>C (p.Glu68Ala) n.650A>C c.119A>C (p.Glu40Ala) n.643A>C n.603A>C | |
1 | g.244863890C>A | CA345497161 | HNRNPU | c.96G>T c.418G>T (p.Glu140Ter) n.603G>T c.202G>T (p.Glu68Ter) n.649G>T c.118G>T (p.Glu40Ter) n.642G>T n.602G>T | |
1 | g.244863890C= | CA1231007493 | HNRNPU | c.96G= c.418G= (p.Glu140=) n.603G= c.202G= (p.Glu68=) n.649G= c.118G= (p.Glu40=) n.642G= n.602G= | |
1 | g.244863890C>G | CA345497162 | HNRNPU | c.96G>C c.418G>C (p.Glu140Gln) n.603G>C c.202G>C (p.Glu68Gln) n.649G>C c.118G>C (p.Glu40Gln) n.642G>C n.602G>C | |
1 | g.244863890C>T | CA345497163 | HNRNPU | c.96G>A c.418G>A (p.Glu140Lys) n.603G>A c.202G>A (p.Glu68Lys) n.649G>A c.118G>A (p.Glu40Lys) n.642G>A n.602G>A | ClinVar dbSNP gnomAD v4 |
1 | g.244863891C>A | CA345497164 | HNRNPU | c.95G>T c.417G>T (p.Gln139His) n.602G>T c.201G>T (p.Gln67His) n.648G>T c.117G>T (p.Gln39His) n.641G>T n.601G>T | |
1 | g.244863891C>G | CA345497165 | HNRNPU | c.95G>C c.417G>C (p.Gln139His) n.602G>C c.201G>C (p.Gln67His) n.648G>C c.117G>C (p.Gln39His) n.641G>C n.601G>C | |
1 | g.244863891C>T | CA424403173 | HNRNPU | c.95G>A c.417G>A (p.Gln139=) n.602G>A c.201G>A (p.Gln67=) n.648G>A c.117G>A (p.Gln39=) n.641G>A n.601G>A | ClinVar |
1 | g.244863892T>A | CA1486804 | HNRNPU | c.94A>T c.416A>T (p.Gln139Leu) n.601A>T c.200A>T (p.Gln67Leu) n.647A>T c.116A>T (p.Gln39Leu) n.640A>T n.600A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863892T>C | CA345497166 | HNRNPU | c.94A>G c.416A>G (p.Gln139Arg) n.601A>G c.200A>G (p.Gln67Arg) n.647A>G c.116A>G (p.Gln39Arg) n.640A>G n.600A>G | |
1 | g.244863892T>G | CA345497167 | HNRNPU | c.94A>C c.416A>C (p.Gln139Pro) n.601A>C c.200A>C (p.Gln67Pro) n.647A>C c.116A>C (p.Gln39Pro) n.640A>C n.600A>C | |
1 | g.244863892T= | CA1149116145 | HNRNPU | c.94A= c.416A= (p.Gln139=) n.601A= c.200A= (p.Gln67=) n.647A= c.116A= (p.Gln39=) n.640A= n.600A= | |
1 | g.244863893G>A | CA345497170 | HNRNPU | c.93C>T c.415C>T (p.Gln139Ter) n.600C>T c.199C>T (p.Gln67Ter) n.646C>T c.115C>T (p.Gln39Ter) n.639C>T n.599C>T | ClinVar dbSNP |
1 | g.244863893G>C | CA345497168 | HNRNPU | c.93C>G c.415C>G (p.Gln139Glu) n.600C>G c.199C>G (p.Gln67Glu) n.646C>G c.115C>G (p.Gln39Glu) n.639C>G n.599C>G | |
1 | g.244863893G= | CA1231007494 | HNRNPU | c.93C= c.415C= (p.Gln139=) n.600C= c.199C= (p.Gln67=) n.646C= c.115C= (p.Gln39=) n.639C= n.599C= | |
1 | g.244863893G>T | CA345497169 | HNRNPU | c.93C>A c.415C>A (p.Gln139Lys) n.600C>A c.199C>A (p.Gln67Lys) n.646C>A c.115C>A (p.Gln39Lys) n.639C>A n.599C>A | |
1 | g.244863894G>A | CA424403181 | HNRNPU | c.92C>T c.414C>T (p.Phe138=) n.599C>T c.198C>T (p.Phe66=) n.645C>T c.114C>T (p.Phe38=) n.638C>T n.598C>T | |
1 | g.244863894G>C | CA345497171 | HNRNPU | c.92C>G c.414C>G (p.Phe138Leu) n.599C>G c.198C>G (p.Phe66Leu) n.645C>G c.114C>G (p.Phe38Leu) n.638C>G n.598C>G | |
1 | g.244863894G>T | CA345497172 | HNRNPU | c.92C>A c.414C>A (p.Phe138Leu) n.599C>A c.198C>A (p.Phe66Leu) n.645C>A c.114C>A (p.Phe38Leu) n.638C>A n.598C>A | |
1 | g.244863895A>C | CA345497173 | HNRNPU | c.91T>G c.413T>G (p.Phe138Cys) n.598T>G c.197T>G (p.Phe66Cys) n.644T>G c.113T>G (p.Phe38Cys) n.637T>G n.597T>G | |
1 | g.244863895A>G | CA345497174 | HNRNPU | c.91T>C c.413T>C (p.Phe138Ser) n.598T>C c.197T>C (p.Phe66Ser) n.644T>C c.113T>C (p.Phe38Ser) n.637T>C n.597T>C | gnomAD v4 |
1 | g.244863895A>T | CA345497175 | HNRNPU | c.91T>A c.413T>A (p.Phe138Tyr) n.598T>A c.197T>A (p.Phe66Tyr) n.644T>A c.113T>A (p.Phe38Tyr) n.637T>A n.597T>A | |
1 | g.244863896A>C | CA345497176 | HNRNPU | c.90T>G c.412T>G (p.Phe138Val) n.597T>G c.196T>G (p.Phe66Val) n.643T>G c.112T>G (p.Phe38Val) n.636T>G n.596T>G | |
1 | g.244863896A>G | CA345497177 | HNRNPU | c.90T>C c.412T>C (p.Phe138Leu) n.597T>C c.196T>C (p.Phe66Leu) n.643T>C c.112T>C (p.Phe38Leu) n.636T>C n.596T>C | |
1 | g.244863896A>T | CA345497178 | HNRNPU | c.90T>A c.412T>A (p.Phe138Ile) n.597T>A c.196T>A (p.Phe66Ile) n.643T>A c.112T>A (p.Phe38Ile) n.636T>A n.596T>A | |
1 | g.244863897A>C | CA424403196 | HNRNPU | c.89T>G c.411T>G (p.Gly137=) n.596T>G c.195T>G (p.Gly65=) n.642T>G c.111T>G (p.Gly37=) n.635T>G n.595T>G | |
1 | g.244863897A>G | CA424403197 | HNRNPU | c.89T>C c.411T>C (p.Gly137=) n.596T>C c.195T>C (p.Gly65=) n.642T>C c.111T>C (p.Gly37=) n.635T>C n.595T>C | |
1 | g.244863897A>T | CA424403198 | HNRNPU | c.89T>A c.411T>A (p.Gly137=) n.596T>A c.195T>A (p.Gly65=) n.642T>A c.111T>A (p.Gly37=) n.635T>A n.595T>A | |
1 | g.244863898C>A | CA345497179 | HNRNPU | c.88G>T c.410G>T (p.Gly137Val) n.595G>T c.194G>T (p.Gly65Val) n.641G>T c.110G>T (p.Gly37Val) n.634G>T n.594G>T | |
1 | g.244863898C>G | CA345497180 | HNRNPU | c.88G>C c.410G>C (p.Gly137Ala) n.595G>C c.194G>C (p.Gly65Ala) n.641G>C c.110G>C (p.Gly37Ala) n.634G>C n.594G>C | |
1 | g.244863898C>T | CA345497181 | HNRNPU | c.88G>A c.410G>A (p.Gly137Asp) n.595G>A c.194G>A (p.Gly65Asp) n.641G>A c.110G>A (p.Gly37Asp) n.634G>A n.594G>A | gnomAD v4 |
1 | g.244863899C>A | CA345497183 | HNRNPU | c.87G>T c.409G>T (p.Gly137Cys) n.594G>T c.193G>T (p.Gly65Cys) n.640G>T c.109G>T (p.Gly37Cys) n.633G>T n.593G>T | |
1 | g.244863899C= | CA1231007495 | HNRNPU | c.87G= c.409G= (p.Gly137=) n.594G= c.193G= (p.Gly65=) n.640G= c.109G= (p.Gly37=) n.633G= n.593G= | |
1 | g.244863899C>G | CA1486805 | HNRNPU | c.87G>C c.409G>C (p.Gly137Arg) n.594G>C c.193G>C (p.Gly65Arg) n.640G>C c.109G>C (p.Gly37Arg) n.633G>C n.593G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863899C>T | CA345497182 | HNRNPU | c.87G>A c.409G>A (p.Gly137Ser) n.594G>A c.193G>A (p.Gly65Ser) n.640G>A c.109G>A (p.Gly37Ser) n.633G>A n.593G>A | |
1 | g.244863900C>A | CA345497184 | HNRNPU | c.86G>T c.408G>T (p.Gln136His) n.593G>T c.192G>T (p.Gln64His) n.639G>T c.108G>T (p.Gln36His) n.632G>T n.592G>T | |
1 | g.244863900C= | CA1231007496 | HNRNPU | c.86G= c.408G= (p.Gln136=) n.593G= c.192G= (p.Gln64=) n.639G= c.108G= (p.Gln36=) n.632G= n.592G= | |
1 | g.244863900C>G | CA345497185 | HNRNPU | c.86G>C c.408G>C (p.Gln136His) n.593G>C c.192G>C (p.Gln64His) n.639G>C c.108G>C (p.Gln36His) n.632G>C n.592G>C | gnomAD v4 |
1 | g.244863900C>T | CA40505179 | HNRNPU | c.86G>A c.408G>A (p.Gln136=) n.593G>A c.192G>A (p.Gln64=) n.639G>A c.108G>A (p.Gln36=) n.632G>A n.592G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863901T>A | CA345497186 | HNRNPU | c.85A>T c.407A>T (p.Gln136Leu) n.592A>T c.191A>T (p.Gln64Leu) n.638A>T c.107A>T (p.Gln36Leu) n.631A>T n.591A>T | |
1 | g.244863901T>C | CA345497187 | HNRNPU | c.85A>G c.407A>G (p.Gln136Arg) n.592A>G c.191A>G (p.Gln64Arg) n.638A>G c.107A>G (p.Gln36Arg) n.631A>G n.591A>G | |
1 | g.244863901T>G | CA345497188 | HNRNPU | c.85A>C c.407A>C (p.Gln136Pro) n.592A>C c.191A>C (p.Gln64Pro) n.638A>C c.107A>C (p.Gln36Pro) n.631A>C n.591A>C | |
1 | g.244863902G>A | CA345497191 | HNRNPU | c.84C>T c.406C>T (p.Gln136Ter) n.591C>T c.190C>T (p.Gln64Ter) n.637C>T c.106C>T (p.Gln36Ter) n.630C>T n.590C>T | |
1 | g.244863902G>C | CA345497190 | HNRNPU | c.84C>G c.406C>G (p.Gln136Glu) n.591C>G c.190C>G (p.Gln64Glu) n.637C>G c.106C>G (p.Gln36Glu) n.630C>G n.590C>G | |
1 | g.244863902G>T | CA345497189 | HNRNPU | c.84C>A c.406C>A (p.Gln136Lys) n.591C>A c.190C>A (p.Gln64Lys) n.637C>A c.106C>A (p.Gln36Lys) n.630C>A n.590C>A | |
1 | g.244863903A= | CA1231007497 | HNRNPU | c.83T= c.405T= (p.Asp135=) n.590T= c.189T= (p.Asp63=) n.636T= c.105T= (p.Asp35=) n.629T= n.589T= | |
1 | g.244863903A>C | CA345497192 | HNRNPU | c.83T>G c.405T>G (p.Asp135Glu) n.590T>G c.189T>G (p.Asp63Glu) n.636T>G c.105T>G (p.Asp35Glu) n.629T>G n.589T>G | |
1 | g.244863903A>G | CA1486806 | HNRNPU | c.83T>C c.405T>C (p.Asp135=) n.590T>C c.189T>C (p.Asp63=) n.636T>C c.105T>C (p.Asp35=) n.629T>C n.589T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863903A>T | CA345497193 | HNRNPU | c.83T>A c.405T>A (p.Asp135Glu) n.590T>A c.189T>A (p.Asp63Glu) n.636T>A c.105T>A (p.Asp35Glu) n.629T>A n.589T>A | |
1 | g.244863904T>A | CA345497194 | HNRNPU | c.82A>T c.404A>T (p.Asp135Val) n.589A>T c.188A>T (p.Asp63Val) n.635A>T c.104A>T (p.Asp35Val) n.628A>T n.588A>T | |
1 | g.244863904T>C | CA345497195 | HNRNPU | c.82A>G c.404A>G (p.Asp135Gly) n.589A>G c.188A>G (p.Asp63Gly) n.635A>G c.104A>G (p.Asp35Gly) n.628A>G n.588A>G | |
1 | g.244863904T>G | CA345497196 | HNRNPU | c.82A>C c.404A>C (p.Asp135Ala) n.589A>C c.188A>C (p.Asp63Ala) n.635A>C c.104A>C (p.Asp35Ala) n.628A>C n.588A>C | |
1 | g.244863905C>A | CA345497197 | HNRNPU | c.81G>T c.403G>T (p.Asp135Tyr) n.588G>T c.187G>T (p.Asp63Tyr) n.634G>T c.103G>T (p.Asp35Tyr) n.627G>T n.587G>T | |
1 | g.244863905C>G | CA345497199 | HNRNPU | c.81G>C c.403G>C (p.Asp135His) n.588G>C c.187G>C (p.Asp63His) n.634G>C c.103G>C (p.Asp35His) n.627G>C n.587G>C | |
1 | g.244863905C>T | CA345497198 | HNRNPU | c.81G>A c.403G>A (p.Asp135Asn) n.588G>A c.187G>A (p.Asp63Asn) n.634G>A c.103G>A (p.Asp35Asn) n.627G>A n.587G>A | |
1 | g.244863905_244863907delinsCGT | CA1231007498 | HNRNPU | c.79_81delinsACG c.401_403delinsACG (p.Asp134=) n.586_588delinsACG c.185_187delinsACG (p.Asp62=) n.632_634delinsACG c.101_103delinsACG (p.Asp34=) n.625_627delinsACG n.585_587delinsACG | |
1 | g.244863906G>A | CA424403224 | HNRNPU | c.80C>T c.402C>T (p.Asp134=) n.587C>T c.186C>T (p.Asp62=) n.633C>T c.102C>T (p.Asp34=) n.626C>T n.586C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863906G>C | CA345497200 | HNRNPU | c.80C>G c.402C>G (p.Asp134Glu) n.587C>G c.186C>G (p.Asp62Glu) n.633C>G c.102C>G (p.Asp34Glu) n.626C>G n.586C>G | |
1 | g.244863906G= | CA1231007499 | HNRNPU | c.80C= c.402C= (p.Asp134=) n.587C= c.186C= (p.Asp62=) n.633C= c.102C= (p.Asp34=) n.626C= n.586C= | |
1 | g.244863906G>T | CA345497201 | HNRNPU | c.80C>A c.402C>A (p.Asp134Glu) n.587C>A c.186C>A (p.Asp62Glu) n.633C>A c.102C>A (p.Asp34Glu) n.626C>A n.586C>A | |
1 | g.244863906_244863907del | CA658683174 | HNRNPU | c.79_80del c.401_402del (p.Asp134GlyfsTer10) n.586_587del c.185_186del (p.Asp62GlyfsTer10) n.632_633del c.101_102del (p.Asp34GlyfsTer10) n.625_626del n.585_586del | ClinVar dbSNP |
1 | g.244863907T>A | CA345497202 | HNRNPU | c.79A>T c.401A>T (p.Asp134Val) n.586A>T c.185A>T (p.Asp62Val) n.632A>T c.101A>T (p.Asp34Val) n.625A>T n.585A>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863907T>C | CA345497203 | HNRNPU | c.79A>G c.401A>G (p.Asp134Gly) n.586A>G c.185A>G (p.Asp62Gly) n.632A>G c.101A>G (p.Asp34Gly) n.625A>G n.585A>G | |
1 | g.244863907T>G | CA345497204 | HNRNPU | c.79A>C c.401A>C (p.Asp134Ala) n.586A>C c.185A>C (p.Asp62Ala) n.632A>C c.101A>C (p.Asp34Ala) n.625A>C n.585A>C | |
1 | g.244863907T= | CA1231007500 | HNRNPU | c.79A= c.401A= (p.Asp134=) n.586A= c.185A= (p.Asp62=) n.632A= c.101A= (p.Asp34=) n.625A= n.585A= | |
1 | g.244863909_244863915del | CA658764575 | HNRNPU | c.73_79del c.395_401del (p.Asn132ThrfsTer?) n.580_586del c.179_185del (p.Asn60ThrfsTer?) n.626_632del c.95_101del (p.Asn32ThrfsTer?) n.619_625del n.579_585del | |
1 | g.244863908C>A | CA345497205 | HNRNPU | c.78G>T c.400G>T (p.Asp134Tyr) n.585G>T c.184G>T (p.Asp62Tyr) n.631G>T c.100G>T (p.Asp34Tyr) n.624G>T n.584G>T | |
1 | g.244863908C>G | CA345497206 | HNRNPU | c.78G>C c.400G>C (p.Asp134His) n.585G>C c.184G>C (p.Asp62His) n.631G>C c.100G>C (p.Asp34His) n.624G>C n.584G>C | |
1 | g.244863908C>T | CA345497207 | HNRNPU | c.78G>A c.400G>A (p.Asp134Asn) n.585G>A c.184G>A (p.Asp62Asn) n.631G>A c.100G>A (p.Asp34Asn) n.624G>A n.584G>A | |
1 | g.244863909G>A | CA424403232 | HNRNPU | c.77C>T c.399C>T (p.Gly133=) n.584C>T c.183C>T (p.Gly61=) n.630C>T c.99C>T (p.Gly33=) n.623C>T n.583C>T | gnomAD v4 |
1 | g.244863909G>C | CA424403240 | HNRNPU | c.77C>G c.399C>G (p.Gly133=) n.584C>G c.183C>G (p.Gly61=) n.630C>G c.99C>G (p.Gly33=) n.623C>G n.583C>G | |
1 | g.244863909G>T | CA424403238 | HNRNPU | c.77C>A c.399C>A (p.Gly133=) n.584C>A c.183C>A (p.Gly61=) n.630C>A c.99C>A (p.Gly33=) n.623C>A n.583C>A | |
1 | g.244863910C>A | CA345497208 | HNRNPU | c.76G>T c.398G>T (p.Gly133Val) n.583G>T c.182G>T (p.Gly61Val) n.629G>T c.98G>T (p.Gly33Val) n.622G>T n.582G>T | |
1 | g.244863910C>G | CA345497209 | HNRNPU | c.76G>C c.398G>C (p.Gly133Ala) n.583G>C c.182G>C (p.Gly61Ala) n.629G>C c.98G>C (p.Gly33Ala) n.622G>C n.582G>C | |
1 | g.244863910C>T | CA345497210 | HNRNPU | c.76G>A c.398G>A (p.Gly133Asp) n.583G>A c.182G>A (p.Gly61Asp) n.629G>A c.98G>A (p.Gly33Asp) n.622G>A n.582G>A | |
1 | g.244863911C>A | CA345497213 | HNRNPU | c.75G>T c.397G>T (p.Gly133Cys) n.582G>T c.181G>T (p.Gly61Cys) n.628G>T c.97G>T (p.Gly33Cys) n.621G>T n.581G>T | |
1 | g.244863911C>G | CA345497212 | HNRNPU | c.75G>C c.397G>C (p.Gly133Arg) n.582G>C c.181G>C (p.Gly61Arg) n.628G>C c.97G>C (p.Gly33Arg) n.621G>C n.581G>C | |
1 | g.244863911C>T | CA345497211 | HNRNPU | c.75G>A c.397G>A (p.Gly133Ser) n.582G>A c.181G>A (p.Gly61Ser) n.628G>A c.97G>A (p.Gly33Ser) n.621G>A n.581G>A | |
1 | g.244863912G>A | CA424403247 | HNRNPU | c.74C>T c.396C>T (p.Asn132=) n.581C>T c.180C>T (p.Asn60=) n.627C>T c.96C>T (p.Asn32=) n.620C>T n.580C>T | |
1 | g.244863912G>C | CA345497214 | HNRNPU | c.74C>G c.396C>G (p.Asn132Lys) n.581C>G c.180C>G (p.Asn60Lys) n.627C>G c.96C>G (p.Asn32Lys) n.620C>G n.580C>G | |
1 | g.244863912G= | CA1231007501 | HNRNPU | c.74C= c.396C= (p.Asn132=) n.581C= c.180C= (p.Asn60=) n.627C= c.96C= (p.Asn32=) n.620C= n.580C= | |
1 | g.244863912G>T | CA345497215 | HNRNPU | c.74C>A c.396C>A (p.Asn132Lys) n.581C>A c.180C>A (p.Asn60Lys) n.627C>A c.96C>A (p.Asn32Lys) n.620C>A n.580C>A | dbSNP gnomAD v4 |
1 | g.244863913T>A | CA345497216 | HNRNPU | c.73A>T c.395A>T (p.Asn132Ile) n.580A>T c.179A>T (p.Asn60Ile) n.626A>T c.95A>T (p.Asn32Ile) n.619A>T n.579A>T | |
1 | g.244863913T>C | CA345497217 | HNRNPU | c.73A>G c.395A>G (p.Asn132Ser) n.580A>G c.179A>G (p.Asn60Ser) n.626A>G c.95A>G (p.Asn32Ser) n.619A>G n.579A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863913T>G | CA345497218 | HNRNPU | c.73A>C c.395A>C (p.Asn132Thr) n.580A>C c.179A>C (p.Asn60Thr) n.626A>C c.95A>C (p.Asn32Thr) n.619A>C n.579A>C | |
1 | g.244863913T= | CA1231007502 | HNRNPU | c.73A= c.395A= (p.Asn132=) n.580A= c.179A= (p.Asn60=) n.626A= c.95A= (p.Asn32=) n.619A= n.579A= | |
1 | g.244863914T>A | CA345497219 | HNRNPU | c.72A>T c.394A>T (p.Asn132Tyr) n.579A>T c.178A>T (p.Asn60Tyr) n.625A>T c.94A>T (p.Asn32Tyr) n.618A>T n.578A>T | |
1 | g.244863914T>C | CA345497220 | HNRNPU | c.72A>G c.394A>G (p.Asn132Asp) n.579A>G c.178A>G (p.Asn60Asp) n.625A>G c.94A>G (p.Asn32Asp) n.618A>G n.578A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863914T>G | CA345497221 | HNRNPU | c.72A>C c.394A>C (p.Asn132His) n.579A>C c.178A>C (p.Asn60His) n.625A>C c.94A>C (p.Asn32His) n.618A>C n.578A>C | |
1 | g.244863914T= | CA1231007503 | HNRNPU | c.72A= c.394A= (p.Asn132=) n.579A= c.178A= (p.Asn60=) n.625A= c.94A= (p.Asn32=) n.618A= n.578A= | |
1 | g.244863915C>A | CA345497222 | HNRNPU | c.71G>T c.393G>T (p.Glu131Asp) n.578G>T c.177G>T (p.Glu59Asp) n.624G>T c.93G>T (p.Glu31Asp) n.617G>T n.577G>T | |
1 | g.244863915C= | CA1231007504 | HNRNPU | c.71G= c.393G= (p.Glu131=) n.578G= c.177G= (p.Glu59=) n.624G= c.93G= (p.Glu31=) n.617G= n.577G= | |
1 | g.244863915C>G | CA345497223 | HNRNPU | c.71G>C c.393G>C (p.Glu131Asp) n.578G>C c.177G>C (p.Glu59Asp) n.624G>C c.93G>C (p.Glu31Asp) n.617G>C n.577G>C | COSMIC COSMIC |
1 | g.244863915C>T | CA424403261 | HNRNPU | c.71G>A c.393G>A (p.Glu131=) n.578G>A c.177G>A (p.Glu59=) n.624G>A c.93G>A (p.Glu31=) n.617G>A n.577G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863916T>A | CA345497224 | HNRNPU | c.70A>T c.392A>T (p.Glu131Val) n.577A>T c.176A>T (p.Glu59Val) n.623A>T c.92A>T (p.Glu31Val) n.616A>T n.576A>T | |
1 | g.244863916T>C | CA345497225 | HNRNPU | c.70A>G c.392A>G (p.Glu131Gly) n.577A>G c.176A>G (p.Glu59Gly) n.623A>G c.92A>G (p.Glu31Gly) n.616A>G n.576A>G | |
1 | g.244863916T>G | CA345497226 | HNRNPU | c.70A>C c.392A>C (p.Glu131Ala) n.577A>C c.176A>C (p.Glu59Ala) n.623A>C c.92A>C (p.Glu31Ala) n.616A>C n.576A>C | |
1 | g.244863917C>A | CA345497229 | HNRNPU | c.69G>T c.391G>T (p.Glu131Ter) n.576G>T c.175G>T (p.Glu59Ter) n.622G>T c.91G>T (p.Glu31Ter) n.615G>T n.575G>T | COSMIC |
1 | g.244863917C= | CA1231007505 | HNRNPU | c.69G= c.391G= (p.Glu131=) n.576G= c.175G= (p.Glu59=) n.622G= c.91G= (p.Glu31=) n.615G= n.575G= | |
1 | g.244863917C>G | CA345497228 | HNRNPU | c.69G>C c.391G>C (p.Glu131Gln) n.576G>C c.175G>C (p.Glu59Gln) n.622G>C c.91G>C (p.Glu31Gln) n.615G>C n.575G>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.244863917C>T | CA345497227 | HNRNPU | c.69G>A c.391G>A (p.Glu131Lys) n.576G>A c.175G>A (p.Glu59Lys) n.622G>A c.91G>A (p.Glu31Lys) n.615G>A n.575G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.244863918G>A | CA1486807 | HNRNPU | c.68C>T c.390C>T (p.Asp130=) n.575C>T c.174C>T (p.Asp58=) n.621C>T c.90C>T (p.Asp30=) n.614C>T n.574C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863918G>C | CA345497230 | HNRNPU | c.68C>G c.390C>G (p.Asp130Glu) n.575C>G c.174C>G (p.Asp58Glu) n.621C>G c.90C>G (p.Asp30Glu) n.614C>G n.574C>G | |
1 | g.244863918G= | CA1143437944 | HNRNPU | c.68C= c.390C= (p.Asp130=) n.575C= c.174C= (p.Asp58=) n.621C= c.90C= (p.Asp30=) n.614C= n.574C= | |
1 | g.244863918G>T | CA345497231 | HNRNPU | c.68C>A c.390C>A (p.Asp130Glu) n.575C>A c.174C>A (p.Asp58Glu) n.621C>A c.90C>A (p.Asp30Glu) n.614C>A n.574C>A | |
1 | g.244863919T>A | CA345497232 | HNRNPU | c.67A>T c.389A>T (p.Asp130Val) n.574A>T c.173A>T (p.Asp58Val) n.620A>T c.89A>T (p.Asp30Val) n.613A>T n.573A>T | |
1 | g.244863919T>C | CA1486808 | HNRNPU | c.67A>G c.389A>G (p.Asp130Gly) n.574A>G c.173A>G (p.Asp58Gly) n.620A>G c.89A>G (p.Asp30Gly) n.613A>G n.573A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863919T>G | CA345497233 | HNRNPU | c.67A>C c.389A>C (p.Asp130Ala) n.574A>C c.173A>C (p.Asp58Ala) n.620A>C c.89A>C (p.Asp30Ala) n.613A>C n.573A>C | |
1 | g.244863919T= | CA1231007506 | HNRNPU | c.67A= c.389A= (p.Asp130=) n.574A= c.173A= (p.Asp58=) n.620A= c.89A= (p.Asp30=) n.613A= n.573A= | |
1 | g.244863920C>A | CA345497234 | HNRNPU | c.66G>T c.388G>T (p.Asp130Tyr) n.573G>T c.172G>T (p.Asp58Tyr) n.619G>T c.88G>T (p.Asp30Tyr) n.612G>T n.572G>T | |
1 | g.244863920C= | CA1231007507 | HNRNPU | c.66G= c.388G= (p.Asp130=) n.573G= c.172G= (p.Asp58=) n.619G= c.88G= (p.Asp30=) n.612G= n.572G= | |
1 | g.244863920C>G | CA345497235 | HNRNPU | c.66G>C c.388G>C (p.Asp130His) n.573G>C c.172G>C (p.Asp58His) n.619G>C c.88G>C (p.Asp30His) n.612G>C n.572G>C | |
1 | g.244863920C>T | CA345497236 | HNRNPU | c.66G>A c.388G>A (p.Asp130Asn) n.573G>A c.172G>A (p.Asp58Asn) n.619G>A c.88G>A (p.Asp30Asn) n.612G>A n.572G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.244863921T>A | CA345497237 | HNRNPU | c.65A>T c.387A>T (p.Glu129Asp) n.572A>T c.171A>T (p.Glu57Asp) n.618A>T c.87A>T (p.Glu29Asp) n.611A>T n.571A>T | |
1 | g.244863921T>C | CA424403284 | HNRNPU | c.65A>G c.387A>G (p.Glu129=) n.572A>G c.171A>G (p.Glu57=) n.618A>G c.87A>G (p.Glu29=) n.611A>G n.571A>G | |
1 | g.244863921T>G | CA345497238 | HNRNPU | c.65A>C c.387A>C (p.Glu129Asp) n.572A>C c.171A>C (p.Glu57Asp) n.618A>C c.87A>C (p.Glu29Asp) n.611A>C n.571A>C | |
1 | g.244863922T>A | CA345497239 | HNRNPU | c.64A>T c.386A>T (p.Glu129Val) n.571A>T c.170A>T (p.Glu57Val) n.617A>T c.86A>T (p.Glu29Val) n.610A>T n.570A>T | |
1 | g.244863922T>C | CA345497240 | HNRNPU | c.64A>G c.386A>G (p.Glu129Gly) n.571A>G c.170A>G (p.Glu57Gly) n.617A>G c.86A>G (p.Glu29Gly) n.610A>G n.570A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863922T>G | CA345497241 | HNRNPU | c.64A>C c.386A>C (p.Glu129Ala) n.571A>C c.170A>C (p.Glu57Ala) n.617A>C c.86A>C (p.Glu29Ala) n.610A>C n.570A>C | |
1 | g.244863922T= | CA1231007508 | HNRNPU | c.64A= c.386A= (p.Glu129=) n.571A= c.170A= (p.Glu57=) n.617A= c.86A= (p.Glu29=) n.610A= n.570A= | |
1 | g.244863923C>A | CA345497243 | HNRNPU | c.63G>T c.385G>T (p.Glu129Ter) n.570G>T c.169G>T (p.Glu57Ter) n.616G>T c.85G>T (p.Glu29Ter) n.609G>T n.569G>T | |
1 | g.244863923C>G | CA345497244 | HNRNPU | c.63G>C c.385G>C (p.Glu129Gln) n.570G>C c.169G>C (p.Glu57Gln) n.616G>C c.85G>C (p.Glu29Gln) n.609G>C n.569G>C | |
1 | g.244863923C>T | CA345497242 | HNRNPU | c.63G>A c.385G>A (p.Glu129Lys) n.570G>A c.169G>A (p.Glu57Lys) n.616G>A c.85G>A (p.Glu29Lys) n.609G>A n.569G>A | |
1 | g.244863924C>A | CA424403291 | HNRNPU | c.62G>T c.384G>T (p.Ser128=) n.569G>T c.168G>T (p.Ser56=) n.615G>T c.84G>T (p.Ser28=) n.608G>T n.568G>T | |
1 | g.244863924C>G | CA424403293 | HNRNPU | c.62G>C c.384G>C (p.Ser128=) n.569G>C c.168G>C (p.Ser56=) n.615G>C c.84G>C (p.Ser28=) n.608G>C n.568G>C | |
1 | g.244863924C>T | CA424403294 | HNRNPU | c.62G>A c.384G>A (p.Ser128=) n.569G>A c.168G>A (p.Ser56=) n.615G>A c.84G>A (p.Ser28=) n.608G>A n.568G>A | ClinVar dbSNP |
1 | g.244863925G>A | CA345497245 | HNRNPU | c.61C>T c.383C>T (p.Ser128Leu) n.568C>T c.167C>T (p.Ser56Leu) n.614C>T c.83C>T (p.Ser28Leu) n.607C>T n.567C>T | |
1 | g.244863925G>C | CA345497246 | HNRNPU | c.61C>G c.383C>G (p.Ser128Trp) n.568C>G c.167C>G (p.Ser56Trp) n.614C>G c.83C>G (p.Ser28Trp) n.607C>G n.567C>G | |
1 | g.244863925G>T | CA345497247 | HNRNPU | c.61C>A c.383C>A (p.Ser128Ter) n.568C>A c.167C>A (p.Ser56Ter) n.614C>A c.83C>A (p.Ser28Ter) n.607C>A n.567C>A |