Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.244863508_244864169delCA2580063520HNRNPUc.143_634+170del
n.328_819+170del
n.374_922+113del
c.143_691+113del
n.367_858+170del
n.327_818+170del
 ClinVar
1g.244863795_244863825delinsTTGCTGCTGCGTCGCCGGCGGTTGAGGCTGCCA1231007447HNRNPUc.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
1g.244863800_244863829delCA1231007448HNRNPUc.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
1g.244863815G>ACA345496846HNRNPUc.171C>T
c.493C>T (p.Pro165Ser)
n.678C>T
c.277C>T (p.Pro93Ser)
n.724C>T
c.193C>T (p.Pro65Ser)
n.717C>T
n.677C>T
 dbSNP gnomAD v4
1g.244863815G>CCA345496848HNRNPUc.171C>G
c.493C>G (p.Pro165Ala)
n.678C>G
c.277C>G (p.Pro93Ala)
n.724C>G
c.193C>G (p.Pro65Ala)
n.717C>G
n.677C>G
1g.244863815G=CA1231007458HNRNPUc.171C=
c.493C= (p.Pro165=)
n.678C=
c.277C= (p.Pro93=)
n.724C=
c.193C= (p.Pro65=)
n.717C=
n.677C=
1g.244863815G>TCA345496849HNRNPUc.171C>A
c.493C>A (p.Pro165Thr)
n.678C>A
c.277C>A (p.Pro93Thr)
n.724C>A
c.193C>A (p.Pro65Thr)
n.717C>A
n.677C>A
1g.244863816T>ACA345496851HNRNPUc.170A>T
c.492A>T (p.Gln164His)
n.677A>T
c.276A>T (p.Gln92His)
n.723A>T
c.192A>T (p.Gln64His)
n.716A>T
n.676A>T
1g.244863816T>CCA40505095HNRNPUc.170A>G
c.492A>G (p.Gln164=)
n.677A>G
c.276A>G (p.Gln92=)
n.723A>G
c.192A>G (p.Gln64=)
n.716A>G
n.676A>G
 ClinVar dbSNP gnomAD v4
1g.244863816T>GCA345496856HNRNPUc.170A>C
c.492A>C (p.Gln164His)
n.677A>C
c.276A>C (p.Gln92His)
n.723A>C
c.192A>C (p.Gln64His)
n.716A>C
n.676A>C
 dbSNP
1g.244863816T=CA1231007459HNRNPUc.170A=
c.492A= (p.Gln164=)
n.677A=
c.276A= (p.Gln92=)
n.723A=
c.192A= (p.Gln64=)
n.716A=
n.676A=
1g.244863817T>ACA345496857HNRNPUc.169A>T
c.491A>T (p.Gln164Leu)
n.676A>T
c.275A>T (p.Gln92Leu)
n.722A>T
c.191A>T (p.Gln64Leu)
n.715A>T
n.675A>T
1g.244863817T>CCA345496858HNRNPUc.169A>G
c.491A>G (p.Gln164Arg)
n.676A>G
c.275A>G (p.Gln92Arg)
n.722A>G
c.191A>G (p.Gln64Arg)
n.715A>G
n.675A>G
1g.244863817T>GCA345496859HNRNPUc.169A>C
c.491A>C (p.Gln164Pro)
n.676A>C
c.275A>C (p.Gln92Pro)
n.722A>C
c.191A>C (p.Gln64Pro)
n.715A>C
n.675A>C
 dbSNP gnomAD v4
1g.244863818G>ACA345496861HNRNPUc.168C>T
c.490C>T (p.Gln164Ter)
n.675C>T
c.274C>T (p.Gln92Ter)
n.721C>T
c.190C>T (p.Gln64Ter)
n.714C>T
n.674C>T
 ClinVar
1g.244863818G>CCA345496863HNRNPUc.168C>G
c.490C>G (p.Gln164Glu)
n.675C>G
c.274C>G (p.Gln92Glu)
n.721C>G
c.190C>G (p.Gln64Glu)
n.714C>G
n.674C>G
1g.244863818G>TCA345496864HNRNPUc.168C>A
c.490C>A (p.Gln164Lys)
n.675C>A
c.274C>A (p.Gln92Lys)
n.721C>A
c.190C>A (p.Gln64Lys)
n.714C>A
n.674C>A
1g.244863819A=CA1231007460HNRNPUc.167T=
c.489T= (p.Pro163=)
n.674T=
c.273T= (p.Pro91=)
n.720T=
c.189T= (p.Pro63=)
n.713T=
n.673T=
1g.244863819A>CCA1486790HNRNPUc.167T>G
c.489T>G (p.Pro163=)
n.674T>G
c.273T>G (p.Pro91=)
n.720T>G
c.189T>G (p.Pro63=)
n.713T>G
n.673T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863819A>GCA424402662HNRNPUc.167T>C
c.489T>C (p.Pro163=)
n.674T>C
c.273T>C (p.Pro91=)
n.720T>C
c.189T>C (p.Pro63=)
n.713T>C
n.673T>C
 ClinVar dbSNP
1g.244863819A>TCA424402661HNRNPUc.167T>A
c.489T>A (p.Pro163=)
n.674T>A
c.273T>A (p.Pro91=)
n.720T>A
c.189T>A (p.Pro63=)
n.713T>A
n.673T>A
1g.244863820G>ACA1486791HNRNPUc.166C>T
c.488C>T (p.Pro163Leu)
n.673C>T
c.272C>T (p.Pro91Leu)
n.719C>T
c.188C>T (p.Pro63Leu)
n.712C>T
n.672C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863820G>CCA345496866HNRNPUc.166C>G
c.488C>G (p.Pro163Arg)
n.673C>G
c.272C>G (p.Pro91Arg)
n.719C>G
c.188C>G (p.Pro63Arg)
n.712C>G
n.672C>G
1g.244863820G=CA1231007461HNRNPUc.166C=
c.488C= (p.Pro163=)
n.673C=
c.272C= (p.Pro91=)
n.719C=
c.188C= (p.Pro63=)
n.712C=
n.672C=
1g.244863820G>TCA345496868HNRNPUc.166C>A
c.488C>A (p.Pro163His)
n.673C>A
c.272C>A (p.Pro91His)
n.719C>A
c.188C>A (p.Pro63His)
n.712C>A
n.672C>A
 gnomAD v4
1g.244863821G>ACA345496871HNRNPUc.165C>T
c.487C>T (p.Pro163Ser)
n.672C>T
c.271C>T (p.Pro91Ser)
n.718C>T
c.187C>T (p.Pro63Ser)
n.711C>T
n.671C>T
 ClinVar gnomAD v4
1g.244863821G>CCA345496872HNRNPUc.165C>G
c.487C>G (p.Pro163Ala)
n.672C>G
c.271C>G (p.Pro91Ala)
n.718C>G
c.187C>G (p.Pro63Ala)
n.711C>G
n.671C>G
1g.244863821G>TCA345496875HNRNPUc.165C>A
c.487C>A (p.Pro163Thr)
n.672C>A
c.271C>A (p.Pro91Thr)
n.718C>A
c.187C>A (p.Pro63Thr)
n.711C>A
n.671C>A
 gnomAD v4
1g.244863827_244863829dupCA1231007462HNRNPUc.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
1g.244863822C>ACA345496878HNRNPUc.164G>T
c.486G>T (p.Gln162His)
n.671G>T
c.270G>T (p.Gln90His)
n.717G>T
c.186G>T (p.Gln62His)
n.710G>T
n.670G>T
1g.244863822C>GCA345496880HNRNPUc.164G>C
c.486G>C (p.Gln162His)
n.671G>C
c.270G>C (p.Gln90His)
n.717G>C
c.186G>C (p.Gln62His)
n.710G>C
n.670G>C
1g.244863822C>TCA424402664HNRNPUc.164G>A
c.486G>A (p.Gln162=)
n.671G>A
c.270G>A (p.Gln90=)
n.717G>A
c.186G>A (p.Gln62=)
n.710G>A
n.670G>A
1g.244863823T>ACA345496883HNRNPUc.163A>T
c.485A>T (p.Gln162Leu)
n.670A>T
c.269A>T (p.Gln90Leu)
n.716A>T
c.185A>T (p.Gln62Leu)
n.709A>T
n.669A>T
1g.244863823T>CCA345496885HNRNPUc.163A>G
c.485A>G (p.Gln162Arg)
n.670A>G
c.269A>G (p.Gln90Arg)
n.716A>G
c.185A>G (p.Gln62Arg)
n.709A>G
n.669A>G
1g.244863823T>GCA345496887HNRNPUc.163A>C
c.485A>C (p.Gln162Pro)
n.670A>C
c.269A>C (p.Gln90Pro)
n.716A>C
c.185A>C (p.Gln62Pro)
n.709A>C
n.669A>C
1g.244863823_244863824delinsTGCA1231007463HNRNPUc.162_163delinsCA
c.484_485delinsCA (p.Gln162=)
n.669_670delinsCA
c.268_269delinsCA (p.Gln90=)
n.715_716delinsCA
c.184_185delinsCA (p.Gln62=)
n.708_709delinsCA
n.668_669delinsCA
1g.244863824delCA658795664HNRNPUc.162del
c.484del (p.Gln162SerfsTer?)
n.669del
c.268del (p.Gln90SerfsTer?)
n.715del
c.184del (p.Gln62SerfsTer?)
n.708del
n.668del
 ClinVar dbSNP
1g.244863824G>ACA345496890HNRNPUc.162C>T
c.484C>T (p.Gln162Ter)
n.669C>T
c.268C>T (p.Gln90Ter)
n.715C>T
c.184C>T (p.Gln62Ter)
n.708C>T
n.668C>T
 ClinVar
1g.244863824G>CCA345496891HNRNPUc.162C>G
c.484C>G (p.Gln162Glu)
n.669C>G
c.268C>G (p.Gln90Glu)
n.715C>G
c.184C>G (p.Gln62Glu)
n.708C>G
n.668C>G
1g.244863824G>TCA345496893HNRNPUc.162C>A
c.484C>A (p.Gln162Lys)
n.669C>A
c.268C>A (p.Gln90Lys)
n.715C>A
c.184C>A (p.Gln62Lys)
n.708C>A
n.668C>A
1g.244863825C>ACA345496895HNRNPUc.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
1g.244863825C=CA1231007464HNRNPUc.161G=
c.483G= (p.Gln161=)
n.668G=
c.267G= (p.Gln89=)
n.714G=
c.183G= (p.Gln61=)
n.707G=
n.667G=
1g.244863825C>GCA345496897HNRNPUc.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
1g.244863825C>TCA424402668HNRNPUc.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
1g.244863826T>ACA345496900HNRNPUc.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
1g.244863826T>CCA345496901HNRNPUc.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
1g.244863826T>GCA345496904HNRNPUc.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
1g.244863826T=CA1231007465HNRNPUc.160A=
c.482A= (p.Gln161=)
n.667A=
c.266A= (p.Gln89=)
n.713A=
c.182A= (p.Gln61=)
n.706A=
n.666A=
1g.244863827G>ACA345496906HNRNPUc.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
1g.244863827G>CCA345496908HNRNPUc.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
1g.244863827G=CA1231007466HNRNPUc.159C=
c.481C= (p.Gln161=)
n.666C=
c.265C= (p.Gln89=)
n.712C=
c.181C= (p.Gln61=)
n.705C=
n.665C=
1g.244863827G>TCA345496910HNRNPUc.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
1g.244863828C>ACA345496913HNRNPUc.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
1g.244863828C>GCA345496912HNRNPUc.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
1g.244863828C>TCA424402673HNRNPUc.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
1g.244863829T>ACA345496915HNRNPUc.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
1g.244863829T>CCA345496917HNRNPUc.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
1g.244863829T>GCA345496919HNRNPUc.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
1g.244863830C>ACA345496921HNRNPUc.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
1g.244863830C=CA1231007467HNRNPUc.156G=
c.478G= (p.Glu160=)
n.663G=
c.262G= (p.Glu88=)
n.709G=
c.178G= (p.Glu60=)
n.702G=
n.662G=
1g.244863830C>GCA345496924HNRNPUc.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
1g.244863830C>TCA345496927HNRNPUc.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
1g.244863831C>ACA424402676HNRNPUc.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
1g.244863831C>GCA424402677HNRNPUc.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
1g.244863831C>TCA424402680HNRNPUc.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
1g.244863832C>ACA345496928HNRNPUc.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
1g.244863832C>GCA345496929HNRNPUc.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
1g.244863832C>TCA345496930HNRNPUc.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
1g.244863833C>ACA345496931HNRNPUc.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
1g.244863833C=CA1231007468HNRNPUc.153G=
c.475G= (p.Gly159=)
n.660G=
c.259G= (p.Gly87=)
n.706G=
c.175G= (p.Gly59=)
n.699G=
n.659G=
1g.244863833C>GCA345496933HNRNPUc.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
1g.244863833C>TCA345496938HNRNPUc.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
1g.244863834G>ACA424402683HNRNPUc.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
1g.244863834G>CCA345496940HNRNPUc.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
1g.244863834G=CA1231007469HNRNPUc.152C=
c.474C= (p.His158=)
n.659C=
c.258C= (p.His86=)
n.705C=
c.174C= (p.His58=)
n.698C=
n.658C=
1g.244863834G>TCA345496942HNRNPUc.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
1g.244863835T>ACA345496946HNRNPUc.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
1g.244863835T>CCA345496947HNRNPUc.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
1g.244863835T>GCA345496945HNRNPUc.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
1g.244863835T=CA1231007470HNRNPUc.151A=
c.473A= (p.His158=)
n.658A=
c.257A= (p.His86=)
n.704A=
c.173A= (p.His58=)
n.697A=
n.657A=
1g.244863836G>ACA345496948HNRNPUc.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
1g.244863836G>CCA345496950HNRNPUc.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
1g.244863836G>TCA345496949HNRNPUc.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
1g.244863837C>ACA424402685HNRNPUc.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
1g.244863837C>GCA424402686HNRNPUc.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
1g.244863837C>TCA424402687HNRNPUc.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
1g.244863838C>ACA345496951HNRNPUc.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
1g.244863838C=CA1231007471HNRNPUc.148G=
c.470G= (p.Gly157=)
n.655G=
c.254G= (p.Gly85=)
n.701G=
c.170G= (p.Gly57=)
n.694G=
n.654G=
1g.244863838C>GCA345496954HNRNPUc.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
1g.244863838C>TCA345496952HNRNPUc.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
1g.244863839C>ACA345496956HNRNPUc.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
1g.244863839C=CA1231007472HNRNPUc.147G=
c.469G= (p.Gly157=)
n.654G=
c.253G= (p.Gly85=)
n.700G=
c.169G= (p.Gly57=)
n.693G=
n.653G=
1g.244863839C>GCA345496960HNRNPUc.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
1g.244863839C>TCA345496958HNRNPUc.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
1g.244863840G>ACA424402688HNRNPUc.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
1g.244863840G>CCA345496961HNRNPUc.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
1g.244863840G=CA1231007473HNRNPUc.146C=
c.468C= (p.Asn156=)
n.653C=
c.252C= (p.Asn84=)
n.699C=
c.168C= (p.Asn56=)
n.692C=
n.652C=
1g.244863840G>TCA345496963HNRNPUc.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
1g.244863841T>ACA345496966HNRNPUc.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
1g.244863841T>CCA345496968HNRNPUc.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
1g.244863841T>GCA345496969HNRNPUc.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
1g.244863842T>ACA345496976HNRNPUc.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
1g.244863842T>CCA345496977HNRNPUc.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
1g.244863842T>GCA345496979HNRNPUc.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
1g.244863842_244863854delCA2586968603HNRNPUc.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
1g.244863843C>ACA345496981HNRNPUc.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
1g.244863843C=CA1231007474HNRNPUc.143G=
c.465G= (p.Glu155=)
n.650G=
c.249G= (p.Glu83=)
n.696G=
c.165G= (p.Glu55=)
n.689G=
n.649G=
1g.244863843C>GCA345496982HNRNPUc.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
1g.244863843C>TCA1486792HNRNPUc.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
1g.244863844T>ACA345496989HNRNPUc.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
1g.244863844T>CCA345496984HNRNPUc.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
1g.244863844T>GCA345496987HNRNPUc.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
1g.244863845C>ACA345496990HNRNPUc.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
1g.244863845C=CA1231007475HNRNPUc.141G=
c.463G= (p.Glu155=)
n.648G=
c.247G= (p.Glu83=)
n.694G=
c.163G= (p.Glu55=)
n.687G=
n.647G=
1g.244863845C>GCA345496992HNRNPUc.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
1g.244863845C>TCA345496993HNRNPUc.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
1g.244863846G>ACA424402690HNRNPUc.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
1g.244863846G>CCA345496995HNRNPUc.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
1g.244863846G>TCA345496996HNRNPUc.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
1g.244863847T>ACA345496998HNRNPUc.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
1g.244863847T>CCA345497000HNRNPUc.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
1g.244863847T>GCA345497002HNRNPUc.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
1g.244863848C>ACA345497004HNRNPUc.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
1g.244863848C>GCA345497005HNRNPUc.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
1g.244863848C>TCA345497008HNRNPUc.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
1g.244863849G>ACA1486793HNRNPUc.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
1g.244863849G>CCA424402691HNRNPUc.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
1g.244863849G=CA1231007476HNRNPUc.137C=
c.459C= (p.Gly153=)
n.644C=
c.243C= (p.Gly81=)
n.690C=
c.159C= (p.Gly53=)
n.683C=
n.643C=
1g.244863849G>TCA424402692HNRNPUc.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
1g.244863850C>ACA345497013HNRNPUc.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
1g.244863850C=CA1143649150HNRNPUc.136G=
c.458G= (p.Gly153=)
n.643G=
c.242G= (p.Gly81=)
n.689G=
c.158G= (p.Gly53=)
n.682G=
n.642G=
1g.244863850C>GCA345497011HNRNPUc.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
1g.244863850C>TCA1486794HNRNPUc.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
1g.244863851C>ACA345497015HNRNPUc.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
1g.244863851C=CA1231007477HNRNPUc.135G=
c.457G= (p.Gly153=)
n.642G=
c.241G= (p.Gly81=)
n.688G=
c.157G= (p.Gly53=)
n.681G=
n.641G=
1g.244863851C>GCA345497021HNRNPUc.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
1g.244863851C>TCA345497023HNRNPUc.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
1g.244863852C>ACA424402693HNRNPUc.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
1g.244863852C=CA1143949465HNRNPUc.134G=
c.456G= (p.Ala152=)
n.641G=
c.240G= (p.Ala80=)
n.687G=
c.156G= (p.Ala52=)
n.680G=
n.640G=
1g.244863852C>GCA424402694HNRNPUc.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
1g.244863852C>TCA1486795HNRNPUc.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
1g.244863853G>ACA345497029HNRNPUc.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
1g.244863853G>CCA345497030HNRNPUc.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
1g.244863853G=CA1231007478HNRNPUc.133C=
c.455C= (p.Ala152=)
n.640C=
c.239C= (p.Ala80=)
n.686C=
c.155C= (p.Ala52=)
n.679C=
n.639C=
1g.244863853G>TCA345497032HNRNPUc.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
1g.244863854C>ACA345497034HNRNPUc.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
1g.244863854C>GCA345497035HNRNPUc.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
1g.244863854C>TCA345497037HNRNPUc.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
1g.244863855G>ACA1486796HNRNPUc.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
1g.244863855G>CCA424402695HNRNPUc.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
1g.244863855G=CA1231007479HNRNPUc.131C=
c.453C= (p.Gly151=)
n.638C=
c.237C= (p.Gly79=)
n.684C=
c.153C= (p.Gly51=)
n.677C=
n.637C=
1g.244863855G>TCA424402696HNRNPUc.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
1g.244863856C>ACA345497040HNRNPUc.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
1g.244863856C>GCA345497042HNRNPUc.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
1g.244863856C>TCA345497041HNRNPUc.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
1g.244863857C>ACA1486797HNRNPUc.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
1g.244863857C=CA1147529447HNRNPUc.129G=
c.451G= (p.Gly151=)
n.636G=
c.235G= (p.Gly79=)
n.682G=
c.151G= (p.Gly51=)
n.675G=
n.635G=
1g.244863857C>GCA345497045HNRNPUc.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
1g.244863857C>TCA1486798HNRNPUc.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
1g.244863858_244863860dupCA2748454211HNRNPUc.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
1g.244863858T>ACA345497048HNRNPUc.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
1g.244863858T>CCA424402697HNRNPUc.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
1g.244863858T>GCA345497050HNRNPUc.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
1g.244863858T=CA1231007480HNRNPUc.128A=
c.450A= (p.Glu150=)
n.635A=
c.234A= (p.Glu78=)
n.681A=
c.150A= (p.Glu50=)
n.674A=
n.634A=
1g.244863859T>ACA345497053HNRNPUc.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
1g.244863859T>CCA345497054HNRNPUc.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
1g.244863859T>GCA345497056HNRNPUc.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
1g.244863860C>ACA345497059HNRNPUc.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
1g.244863860C=CA1231007481HNRNPUc.126G=
c.448G= (p.Glu150=)
n.633G=
c.232G= (p.Glu78=)
n.679G=
c.148G= (p.Glu50=)
n.672G=
n.632G=
1g.244863860C>GCA40505131HNRNPUc.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
1g.244863860C>TCA345497061HNRNPUc.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
1g.244863861C>ACA345497065HNRNPUc.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
1g.244863861C>GCA345497063HNRNPUc.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
1g.244863861C>TCA424402698HNRNPUc.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
1g.244863862T>ACA345497068HNRNPUc.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
1g.244863862T>CCA40505134HNRNPUc.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
1g.244863862T>GCA345497070HNRNPUc.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
1g.244863862T=CA1144069203HNRNPUc.124A=
c.446A= (p.Glu149=)
n.631A=
c.230A= (p.Glu77=)
n.677A=
c.146A= (p.Glu49=)
n.670A=
n.630A=
1g.244863867_244863884delCA2580063537HNRNPUc.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
1g.244863863C>ACA345497076HNRNPUc.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
1g.244863863C>GCA345497079HNRNPUc.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
1g.244863863C>TCA345497080HNRNPUc.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
1g.244863864T>ACA345497083HNRNPUc.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
1g.244863864T>CCA424402699HNRNPUc.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
1g.244863864T>GCA345497085HNRNPUc.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
1g.244863865T>ACA345497088HNRNPUc.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
1g.244863865T>CCA345497089HNRNPUc.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
1g.244863865T>GCA345497091HNRNPUc.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
1g.244863865T=CA1231007482HNRNPUc.121A=
c.443A= (p.Glu148=)
n.628A=
c.227A= (p.Glu76=)
n.674A=
c.143A= (p.Glu48=)
n.667A=
n.627A=
1g.244863866C>ACA345497093HNRNPUc.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
1g.244863866C>GCA345497094HNRNPUc.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
1g.244863866C>TCA345497096HNRNPUc.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
1g.244863867G>ACA424402702HNRNPUc.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
1g.244863867G>CCA1486799HNRNPUc.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
1g.244863867G=CA1145151615HNRNPUc.119C=
c.441C= (p.Asp147=)
n.626C=
c.225C= (p.Asp75=)
n.672C=
c.141C= (p.Asp47=)
n.665C=
n.625C=
1g.244863867G>TCA345497097HNRNPUc.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
1g.244863868T>ACA345497098HNRNPUc.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
1g.244863868T>CCA345497099HNRNPUc.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
1g.244863868T>GCA345497101HNRNPUc.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
1g.244863868_244863870delCA2748454213HNRNPUc.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
1g.244863869C>ACA345497103HNRNPUc.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
1g.244863869C=CA1231007483HNRNPUc.117G=
c.439G= (p.Asp147=)
n.624G=
c.223G= (p.Asp75=)
n.670G=
c.139G= (p.Asp47=)
n.663G=
n.623G=
1g.244863869C>GCA345497105HNRNPUc.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
1g.244863869C>TCA1486800HNRNPUc.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
1g.244863870C>ACA424402706HNRNPUc.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
1g.244863870C=CA1231007484HNRNPUc.116G=
c.438G= (p.Gly146=)
n.623G=
c.222G= (p.Gly74=)
n.669G=
c.138G= (p.Gly46=)
n.662G=
n.622G=
1g.244863870C>GCA424402707HNRNPUc.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
1g.244863870C>TCA424402708HNRNPUc.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
1g.244863871C>ACA345497107HNRNPUc.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
1g.244863871C=CA1231007485HNRNPUc.115G=
c.437G= (p.Gly146=)
n.622G=
c.221G= (p.Gly74=)
n.668G=
c.137G= (p.Gly46=)
n.661G=
n.621G=
1g.244863871C>GCA345497109HNRNPUc.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
1g.244863871C>TCA345497111HNRNPUc.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
1g.244863872C>ACA345497113HNRNPUc.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
1g.244863872C=CA1231007486HNRNPUc.114G=
c.436G= (p.Gly146=)
n.621G=
c.220G= (p.Gly74=)
n.667G=
c.136G= (p.Gly46=)
n.660G=
n.620G=
1g.244863872C>GCA40505154HNRNPUc.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
1g.244863872C>TCA345497115HNRNPUc.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
1g.244863873G>ACA424403078HNRNPUc.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
1g.244863873G>CCA424403081HNRNPUc.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
1g.244863873G=CA1231007487HNRNPUc.113C=
c.435C= (p.Leu145=)
n.620C=
c.219C= (p.Leu73=)
n.666C=
c.135C= (p.Leu45=)
n.659C=
n.619C=
1g.244863873G>TCA424403084HNRNPUc.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
1g.244863874A>CCA345497119HNRNPUc.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
1g.244863874A>GCA345497121HNRNPUc.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
1g.244863874A>TCA345497118HNRNPUc.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
1g.244863875G>ACA1486801HNRNPUc.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
1g.244863875G>CCA345497122HNRNPUc.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
1g.244863875G=CA1149036569HNRNPUc.111C=
c.433C= (p.Leu145=)
n.618C=
c.217C= (p.Leu73=)
n.664C=
c.133C= (p.Leu45=)
n.657C=
n.617C=
1g.244863875G>TCA345497124HNRNPUc.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
1g.244863876C>ACA345497126HNRNPUc.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
1g.244863876C>GCA345497127HNRNPUc.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
1g.244863876C>TCA424403100HNRNPUc.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
1g.244863876_244863879delinsCTCACA1231007488HNRNPUc.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
1g.244863877T>ACA345497130HNRNPUc.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
1g.244863877T>CCA345497129HNRNPUc.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
1g.244863877T>GCA345497128HNRNPUc.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
1g.244863879_244863881delCA40505161HNRNPUc.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
1g.244863878C>ACA345497131HNRNPUc.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
1g.244863878C>GCA345497132HNRNPUc.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
1g.244863878C>TCA345497133HNRNPUc.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
1g.244863879A=CA1146418130HNRNPUc.107T=
c.429T= (p.Asp143=)
n.614T=
c.213T= (p.Asp71=)
n.660T=
c.129T= (p.Asp43=)
n.653T=
n.613T=
1g.244863879A>CCA345497134HNRNPUc.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
1g.244863879A>GCA1486802HNRNPUc.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
1g.244863879A>TCA345497135HNRNPUc.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
1g.244863880T>ACA345497136HNRNPUc.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
1g.244863880T>CCA345497138HNRNPUc.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
1g.244863880T>GCA345497137HNRNPUc.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
1g.244863881C>ACA345497139HNRNPUc.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
1g.244863881C>GCA345497140HNRNPUc.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
1g.244863881C>TCA345497141HNRNPUc.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
1g.244863882T>ACA345497142HNRNPUc.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
1g.244863882T>CCA424403141HNRNPUc.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
1g.244863882T>GCA345497143HNRNPUc.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
1g.244863882T=CA1231007489HNRNPUc.104A=
c.426A= (p.Glu142=)
n.611A=
c.210A= (p.Glu70=)
n.657A=
c.126A= (p.Glu42=)
n.650A=
n.610A=
1g.244863883T>ACA345497144HNRNPUc.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
1g.244863883T>CCA345497145HNRNPUc.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
1g.244863883T>GCA345497146HNRNPUc.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
1g.244863884C>ACA345497147HNRNPUc.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
1g.244863884C=CA1231007490HNRNPUc.102G=
c.424G= (p.Glu142=)
n.609G=
c.208G= (p.Glu70=)
n.655G=
c.124G= (p.Glu42=)
n.648G=
n.608G=
1g.244863884C>GCA345497148HNRNPUc.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
1g.244863884C>TCA345497149HNRNPUc.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
1g.244863885C>ACA1486803HNRNPUc.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
1g.244863885C=CA1231007491HNRNPUc.101G=
c.423G= (p.Gly141=)
n.608G=
c.207G= (p.Gly69=)
n.654G=
c.123G= (p.Gly41=)
n.647G=
n.607G=
1g.244863885C>GCA424403154HNRNPUc.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
1g.244863885C>TCA424403157HNRNPUc.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
1g.244863886C>ACA345497152HNRNPUc.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
1g.244863886C>GCA345497151HNRNPUc.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
1g.244863886C>TCA345497150HNRNPUc.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
1g.244863886_244863887delinsTTCA645532141HNRNPUc.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
1g.244863887C>ACA345497153HNRNPUc.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
1g.244863887C>GCA345497155HNRNPUc.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
1g.244863887C>TCA345497154HNRNPUc.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
1g.244863888T>ACA345497156HNRNPUc.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
1g.244863888T>CCA424403168HNRNPUc.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
1g.244863888T>GCA345497157HNRNPUc.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
1g.244863888T=CA1231007492HNRNPUc.98A=
c.420A= (p.Glu140=)
n.605A=
c.204A= (p.Glu68=)
n.651A=
c.120A= (p.Glu40=)
n.644A=
n.604A=
1g.244863889T>ACA345497158HNRNPUc.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
1g.244863889T>CCA345497159HNRNPUc.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
1g.244863889T>GCA345497160HNRNPUc.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
1g.244863890C>ACA345497161HNRNPUc.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
1g.244863890C=CA1231007493HNRNPUc.96G=
c.418G= (p.Glu140=)
n.603G=
c.202G= (p.Glu68=)
n.649G=
c.118G= (p.Glu40=)
n.642G=
n.602G=
1g.244863890C>GCA345497162HNRNPUc.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
1g.244863890C>TCA345497163HNRNPUc.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
1g.244863891C>ACA345497164HNRNPUc.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
1g.244863891C>GCA345497165HNRNPUc.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
1g.244863891C>TCA424403173HNRNPUc.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
1g.244863892T>ACA1486804HNRNPUc.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
1g.244863892T>CCA345497166HNRNPUc.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
1g.244863892T>GCA345497167HNRNPUc.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
1g.244863892T=CA1149116145HNRNPUc.94A=
c.416A= (p.Gln139=)
n.601A=
c.200A= (p.Gln67=)
n.647A=
c.116A= (p.Gln39=)
n.640A=
n.600A=
1g.244863893G>ACA345497170HNRNPUc.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
1g.244863893G>CCA345497168HNRNPUc.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
1g.244863893G=CA1231007494HNRNPUc.93C=
c.415C= (p.Gln139=)
n.600C=
c.199C= (p.Gln67=)
n.646C=
c.115C= (p.Gln39=)
n.639C=
n.599C=
1g.244863893G>TCA345497169HNRNPUc.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
1g.244863894G>ACA424403181HNRNPUc.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
1g.244863894G>CCA345497171HNRNPUc.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
1g.244863894G>TCA345497172HNRNPUc.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
1g.244863895A>CCA345497173HNRNPUc.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
1g.244863895A>GCA345497174HNRNPUc.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
1g.244863895A>TCA345497175HNRNPUc.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
1g.244863896A>CCA345497176HNRNPUc.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
1g.244863896A>GCA345497177HNRNPUc.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
1g.244863896A>TCA345497178HNRNPUc.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
1g.244863897A>CCA424403196HNRNPUc.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
1g.244863897A>GCA424403197HNRNPUc.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
1g.244863897A>TCA424403198HNRNPUc.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
1g.244863898C>ACA345497179HNRNPUc.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
1g.244863898C>GCA345497180HNRNPUc.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
1g.244863898C>TCA345497181HNRNPUc.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
1g.244863899C>ACA345497183HNRNPUc.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
1g.244863899C=CA1231007495HNRNPUc.87G=
c.409G= (p.Gly137=)
n.594G=
c.193G= (p.Gly65=)
n.640G=
c.109G= (p.Gly37=)
n.633G=
n.593G=
1g.244863899C>GCA1486805HNRNPUc.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
1g.244863899C>TCA345497182HNRNPUc.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
1g.244863900C>ACA345497184HNRNPUc.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
1g.244863900C=CA1231007496HNRNPUc.86G=
c.408G= (p.Gln136=)
n.593G=
c.192G= (p.Gln64=)
n.639G=
c.108G= (p.Gln36=)
n.632G=
n.592G=
1g.244863900C>GCA345497185HNRNPUc.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
1g.244863900C>TCA40505179HNRNPUc.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
1g.244863901T>ACA345497186HNRNPUc.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
1g.244863901T>CCA345497187HNRNPUc.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
1g.244863901T>GCA345497188HNRNPUc.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
1g.244863902G>ACA345497191HNRNPUc.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
1g.244863902G>CCA345497190HNRNPUc.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
1g.244863902G>TCA345497189HNRNPUc.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
1g.244863903A=CA1231007497HNRNPUc.83T=
c.405T= (p.Asp135=)
n.590T=
c.189T= (p.Asp63=)
n.636T=
c.105T= (p.Asp35=)
n.629T=
n.589T=
1g.244863903A>CCA345497192HNRNPUc.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
1g.244863903A>GCA1486806HNRNPUc.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
1g.244863903A>TCA345497193HNRNPUc.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
1g.244863904T>ACA345497194HNRNPUc.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
1g.244863904T>CCA345497195HNRNPUc.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
1g.244863904T>GCA345497196HNRNPUc.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
1g.244863905C>ACA345497197HNRNPUc.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
1g.244863905C>GCA345497199HNRNPUc.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
1g.244863905C>TCA345497198HNRNPUc.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
1g.244863905_244863907delinsCGTCA1231007498HNRNPUc.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
1g.244863906G>ACA424403224HNRNPUc.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
1g.244863906G>CCA345497200HNRNPUc.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
1g.244863906G=CA1231007499HNRNPUc.80C=
c.402C= (p.Asp134=)
n.587C=
c.186C= (p.Asp62=)
n.633C=
c.102C= (p.Asp34=)
n.626C=
n.586C=
1g.244863906G>TCA345497201HNRNPUc.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
1g.244863906_244863907delCA658683174HNRNPUc.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
1g.244863907T>ACA345497202HNRNPUc.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
1g.244863907T>CCA345497203HNRNPUc.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
1g.244863907T>GCA345497204HNRNPUc.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
1g.244863907T=CA1231007500HNRNPUc.79A=
c.401A= (p.Asp134=)
n.586A=
c.185A= (p.Asp62=)
n.632A=
c.101A= (p.Asp34=)
n.625A=
n.585A=
1g.244863909_244863915delCA658764575HNRNPUc.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
1g.244863908C>ACA345497205HNRNPUc.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
1g.244863908C>GCA345497206HNRNPUc.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
1g.244863908C>TCA345497207HNRNPUc.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
1g.244863909G>ACA424403232HNRNPUc.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
1g.244863909G>CCA424403240HNRNPUc.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
1g.244863909G>TCA424403238HNRNPUc.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
1g.244863910C>ACA345497208HNRNPUc.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
1g.244863910C>GCA345497209HNRNPUc.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
1g.244863910C>TCA345497210HNRNPUc.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
1g.244863911C>ACA345497213HNRNPUc.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
1g.244863911C>GCA345497212HNRNPUc.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
1g.244863911C>TCA345497211HNRNPUc.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
1g.244863912G>ACA424403247HNRNPUc.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
1g.244863912G>CCA345497214HNRNPUc.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
1g.244863912G=CA1231007501HNRNPUc.74C=
c.396C= (p.Asn132=)
n.581C=
c.180C= (p.Asn60=)
n.627C=
c.96C= (p.Asn32=)
n.620C=
n.580C=
1g.244863912G>TCA345497215HNRNPUc.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
1g.244863913T>ACA345497216HNRNPUc.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
1g.244863913T>CCA345497217HNRNPUc.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
1g.244863913T>GCA345497218HNRNPUc.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
1g.244863913T=CA1231007502HNRNPUc.73A=
c.395A= (p.Asn132=)
n.580A=
c.179A= (p.Asn60=)
n.626A=
c.95A= (p.Asn32=)
n.619A=
n.579A=
1g.244863914T>ACA345497219HNRNPUc.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
1g.244863914T>CCA345497220HNRNPUc.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
1g.244863914T>GCA345497221HNRNPUc.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
1g.244863914T=CA1231007503HNRNPUc.72A=
c.394A= (p.Asn132=)
n.579A=
c.178A= (p.Asn60=)
n.625A=
c.94A= (p.Asn32=)
n.618A=
n.578A=
1g.244863915C>ACA345497222HNRNPUc.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
1g.244863915C=CA1231007504HNRNPUc.71G=
c.393G= (p.Glu131=)
n.578G=
c.177G= (p.Glu59=)
n.624G=
c.93G= (p.Glu31=)
n.617G=
n.577G=
1g.244863915C>GCA345497223HNRNPUc.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
1g.244863915C>TCA424403261HNRNPUc.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

Number of alleles fetched