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.244863689G>ACA345496307HNRNPUc.297C>T
c.619C>T (p.Gln207Ter)
n.804C>T
c.403C>T (p.Gln135Ter)
n.850C>T
c.319C>T (p.Gln107Ter)
n.843C>T
n.803C>T
1g.244863689G>CCA345496305HNRNPUc.297C>G
c.619C>G (p.Gln207Glu)
n.804C>G
c.403C>G (p.Gln135Glu)
n.850C>G
c.319C>G (p.Gln107Glu)
n.843C>G
n.803C>G
1g.244863689G>TCA345496303HNRNPUc.297C>A
c.619C>A (p.Gln207Lys)
n.804C>A
c.403C>A (p.Gln135Lys)
n.850C>A
c.319C>A (p.Gln107Lys)
n.843C>A
n.803C>A
 gnomAD v4
1g.244863689_244863692delinsGGCCCA1231007385HNRNPUc.294_297delinsGGCC
c.616_619delinsGGCC (p.Gly206=)
n.801_804delinsGGCC
c.400_403delinsGGCC (p.Gly134=)
n.847_850delinsGGCC
c.316_319delinsGGCC (p.Gly106=)
n.840_843delinsGGCC
n.800_803delinsGGCC
1g.244863690G>ACA424402516HNRNPUc.296C>T
c.618C>T (p.Gly206=)
n.803C>T
c.402C>T (p.Gly134=)
n.849C>T
c.318C>T (p.Gly106=)
n.842C>T
n.802C>T
 ClinVar dbSNP gnomAD v4
1g.244863690G>CCA424402519HNRNPUc.296C>G
c.618C>G (p.Gly206=)
n.803C>G
c.402C>G (p.Gly134=)
n.849C>G
c.318C>G (p.Gly106=)
n.842C>G
n.802C>G
1g.244863690G=CA1231007386HNRNPUc.296C=
c.618C= (p.Gly206=)
n.803C=
c.402C= (p.Gly134=)
n.849C=
c.318C= (p.Gly106=)
n.842C=
n.802C=
1g.244863690G>TCA424402518HNRNPUc.296C>A
c.618C>A (p.Gly206=)
n.803C>A
c.402C>A (p.Gly134=)
n.849C>A
c.318C>A (p.Gly106=)
n.842C>A
n.802C>A
 gnomAD v4
1g.244863690_244863692delCA424402517HNRNPUc.294_296del
c.616_618del (p.Gly206del)
n.801_803del
c.400_402del (p.Gly134del)
n.847_849del
c.316_318del (p.Gly106del)
n.840_842del
n.800_802del
 dbSNP
1g.244863691C>ACA345496310HNRNPUc.295G>T
c.617G>T (p.Gly206Val)
n.802G>T
c.401G>T (p.Gly134Val)
n.848G>T
c.317G>T (p.Gly106Val)
n.841G>T
n.801G>T
 gnomAD v4
1g.244863691C=CA1231007387HNRNPUc.295G=
c.617G= (p.Gly206=)
n.802G=
c.401G= (p.Gly134=)
n.848G=
c.317G= (p.Gly106=)
n.841G=
n.801G=
1g.244863691C>GCA1486766HNRNPUc.295G>C
c.617G>C (p.Gly206Ala)
n.802G>C
c.401G>C (p.Gly134Ala)
n.848G>C
c.317G>C (p.Gly106Ala)
n.841G>C
n.801G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863691C>TCA345496314HNRNPUc.295G>A
c.617G>A (p.Gly206Asp)
n.802G>A
c.401G>A (p.Gly134Asp)
n.848G>A
c.317G>A (p.Gly106Asp)
n.841G>A
n.801G>A
 gnomAD v4
1g.244863691_244863693delCA345496315HNRNPUc.293_295del
c.615_617del (p.Gln205_Gly206delinsHis)
n.800_802del
c.399_401del (p.Gln133_Gly134delinsHis)
n.846_848del
c.315_317del (p.Gln105_Gly106delinsHis)
n.839_841del
n.799_801del
1g.244863692C>ACA345496318HNRNPUc.294G>T
c.616G>T (p.Gly206Cys)
n.801G>T
c.400G>T (p.Gly134Cys)
n.847G>T
c.316G>T (p.Gly106Cys)
n.840G>T
n.800G>T
 gnomAD v4
1g.244863692C=CA1231007388HNRNPUc.294G=
c.616G= (p.Gly206=)
n.801G=
c.400G= (p.Gly134=)
n.847G=
c.316G= (p.Gly106=)
n.840G=
n.800G=
1g.244863692C>GCA345496320HNRNPUc.294G>C
c.616G>C (p.Gly206Arg)
n.801G>C
c.400G>C (p.Gly134Arg)
n.847G>C
c.316G>C (p.Gly106Arg)
n.840G>C
n.800G>C
1g.244863692C>TCA1486767HNRNPUc.294G>A
c.616G>A (p.Gly206Ser)
n.801G>A
c.400G>A (p.Gly134Ser)
n.847G>A
c.316G>A (p.Gly106Ser)
n.840G>A
n.800G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863693C>ACA345496327HNRNPUc.293G>T
c.615G>T (p.Gln205His)
n.800G>T
c.399G>T (p.Gln133His)
n.846G>T
c.315G>T (p.Gln105His)
n.839G>T
n.799G>T
 gnomAD v4
1g.244863693C=CA1231007389HNRNPUc.293G=
c.615G= (p.Gln205=)
n.800G=
c.399G= (p.Gln133=)
n.846G=
c.315G= (p.Gln105=)
n.839G=
n.799G=
1g.244863693C>GCA345496329HNRNPUc.293G>C
c.615G>C (p.Gln205His)
n.800G>C
c.399G>C (p.Gln133His)
n.846G>C
c.315G>C (p.Gln105His)
n.839G>C
n.799G>C
 dbSNP gnomAD v3 gnomAD v4
1g.244863693C>TCA424402522HNRNPUc.293G>A
c.615G>A (p.Gln205=)
n.800G>A
c.399G>A (p.Gln133=)
n.846G>A
c.315G>A (p.Gln105=)
n.839G>A
n.799G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.244863694T>ACA345496331HNRNPUc.292A>T
c.614A>T (p.Gln205Leu)
n.799A>T
c.398A>T (p.Gln133Leu)
n.845A>T
c.314A>T (p.Gln105Leu)
n.838A>T
n.798A>T
1g.244863694T>CCA345496333HNRNPUc.292A>G
c.614A>G (p.Gln205Arg)
n.799A>G
c.398A>G (p.Gln133Arg)
n.845A>G
c.314A>G (p.Gln105Arg)
n.838A>G
n.798A>G
 ClinVar dbSNP gnomAD v4
1g.244863694T>GCA345496334HNRNPUc.292A>C
c.614A>C (p.Gln205Pro)
n.799A>C
c.398A>C (p.Gln133Pro)
n.845A>C
c.314A>C (p.Gln105Pro)
n.838A>C
n.798A>C
1g.244863694T=CA1231007390HNRNPUc.292A=
c.614A= (p.Gln205=)
n.799A=
c.398A= (p.Gln133=)
n.845A=
c.314A= (p.Gln105=)
n.838A=
n.798A=
1g.244863695G>ACA345496340HNRNPUc.291C>T
c.613C>T (p.Gln205Ter)
n.798C>T
c.397C>T (p.Gln133Ter)
n.844C>T
c.313C>T (p.Gln105Ter)
n.837C>T
n.797C>T
 gnomAD v4
1g.244863695G>CCA345496339HNRNPUc.291C>G
c.613C>G (p.Gln205Glu)
n.798C>G
c.397C>G (p.Gln133Glu)
n.844C>G
c.313C>G (p.Gln105Glu)
n.837C>G
n.797C>G
1g.244863695G>TCA345496337HNRNPUc.291C>A
c.613C>A (p.Gln205Lys)
n.798C>A
c.397C>A (p.Gln133Lys)
n.844C>A
c.313C>A (p.Gln105Lys)
n.837C>A
n.797C>A
 gnomAD v4
1g.244863696C>ACA345496343HNRNPUc.290G>T
c.612G>T (p.Arg204Ser)
n.797G>T
c.396G>T (p.Arg132Ser)
n.843G>T
c.312G>T (p.Arg104Ser)
n.836G>T
n.796G>T
 gnomAD v4
1g.244863696C>GCA345496345HNRNPUc.290G>C
c.612G>C (p.Arg204Ser)
n.797G>C
c.396G>C (p.Arg132Ser)
n.843G>C
c.312G>C (p.Arg104Ser)
n.836G>C
n.796G>C
1g.244863696C>TCA424402526HNRNPUc.290G>A
c.612G>A (p.Arg204=)
n.797G>A
c.396G>A (p.Arg132=)
n.843G>A
c.312G>A (p.Arg104=)
n.836G>A
n.796G>A
 gnomAD v4
1g.244863697C>ACA345496348HNRNPUc.289G>T
c.611G>T (p.Arg204Met)
n.796G>T
c.395G>T (p.Arg132Met)
n.842G>T
c.311G>T (p.Arg104Met)
n.835G>T
n.795G>T
 gnomAD v4
1g.244863697C=CA1143509863HNRNPUc.289G=
c.611G= (p.Arg204=)
n.796G=
c.395G= (p.Arg132=)
n.842G=
c.311G= (p.Arg104=)
n.835G=
n.795G=
1g.244863697C>GCA40505011HNRNPUc.289G>C
c.611G>C (p.Arg204Thr)
n.796G>C
c.395G>C (p.Arg132Thr)
n.842G>C
c.311G>C (p.Arg104Thr)
n.835G>C
n.795G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244863697C>TCA345496350HNRNPUc.289G>A
c.611G>A (p.Arg204Lys)
n.796G>A
c.395G>A (p.Arg132Lys)
n.842G>A
c.311G>A (p.Arg104Lys)
n.835G>A
n.795G>A
 dbSNP gnomAD v2 gnomAD v4
1g.244863697_244863698insGCTGACCCAGCAATCGCACA1231007391HNRNPUc.288_289insTGCGATTGCTGGGTCAGC
c.610_611insTGCGATTGCTGGGTCAGC (p.Ala203_Arg204insMetArgLeuLeuGlyGln)
n.795_796insTGCGATTGCTGGGTCAGC
c.394_395insTGCGATTGCTGGGTCAGC (p.Ala131_Arg132insMetArgLeuLeuGlyGln)
n.841_842insTGCGATTGCTGGGTCAGC
c.310_311insTGCGATTGCTGGGTCAGC (p.Ala103_Arg104insMetArgLeuLeuGlyGln)
n.834_835insTGCGATTGCTGGGTCAGC
n.794_795insTGCGATTGCTGGGTCAGC
 dbSNP
1g.244863698T>ACA345496353HNRNPUc.288A>T
c.610A>T (p.Arg204Trp)
n.795A>T
c.394A>T (p.Arg132Trp)
n.841A>T
c.310A>T (p.Arg104Trp)
n.834A>T
n.794A>T
1g.244863698T>CCA345496354HNRNPUc.288A>G
c.610A>G (p.Arg204Gly)
n.795A>G
c.394A>G (p.Arg132Gly)
n.841A>G
c.310A>G (p.Arg104Gly)
n.834A>G
n.794A>G
 ClinVar dbSNP gnomAD v4
1g.244863698T>GCA424402531HNRNPUc.288A>C
c.610A>C (p.Arg204=)
n.795A>C
c.394A>C (p.Arg132=)
n.841A>C
c.310A>C (p.Arg104=)
n.834A>C
n.794A>C
1g.244863699C>ACA424402532HNRNPUc.287G>T
c.609G>T (p.Ala203=)
n.794G>T
c.393G>T (p.Ala131=)
n.840G>T
c.309G>T (p.Ala103=)
n.833G>T
n.793G>T
 gnomAD v4
1g.244863699C=CA1231007392HNRNPUc.287G=
c.609G= (p.Ala203=)
n.794G=
c.393G= (p.Ala131=)
n.840G=
c.309G= (p.Ala103=)
n.833G=
n.793G=
1g.244863699C>GCA424402534HNRNPUc.287G>C
c.609G>C (p.Ala203=)
n.794G>C
c.393G>C (p.Ala131=)
n.840G>C
c.309G>C (p.Ala103=)
n.833G>C
n.793G>C
 dbSNP gnomAD v2 gnomAD v4
1g.244863699C>TCA424402536HNRNPUc.287G>A
c.609G>A (p.Ala203=)
n.794G>A
c.393G>A (p.Ala131=)
n.840G>A
c.309G>A (p.Ala103=)
n.833G>A
n.793G>A
 ClinVar dbSNP gnomAD v4
1g.244863700G>ACA345496355HNRNPUc.286C>T
c.608C>T (p.Ala203Val)
n.793C>T
c.392C>T (p.Ala131Val)
n.839C>T
c.308C>T (p.Ala103Val)
n.832C>T
n.792C>T
 gnomAD v4
1g.244863700G>CCA345496356HNRNPUc.286C>G
c.608C>G (p.Ala203Gly)
n.793C>G
c.392C>G (p.Ala131Gly)
n.839C>G
c.308C>G (p.Ala103Gly)
n.832C>G
n.792C>G
1g.244863700G=CA1231007393HNRNPUc.286C=
c.608C= (p.Ala203=)
n.793C=
c.392C= (p.Ala131=)
n.839C=
c.308C= (p.Ala103=)
n.832C=
n.792C=
1g.244863700G>TCA1486768HNRNPUc.286C>A
c.608C>A (p.Ala203Glu)
n.793C>A
c.392C>A (p.Ala131Glu)
n.839C>A
c.308C>A (p.Ala103Glu)
n.832C>A
n.792C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.244863701C>ACA345496358HNRNPUc.285G>T
c.607G>T (p.Ala203Ser)
n.792G>T
c.391G>T (p.Ala131Ser)
n.838G>T
c.307G>T (p.Ala103Ser)
n.831G>T
n.791G>T
 gnomAD v4
1g.244863701C=CA1231007394HNRNPUc.285G=
c.607G= (p.Ala203=)
n.792G=
c.391G= (p.Ala131=)
n.838G=
c.307G= (p.Ala103=)
n.831G=
n.791G=
1g.244863701C>GCA345496359HNRNPUc.285G>C
c.607G>C (p.Ala203Pro)
n.792G>C
c.391G>C (p.Ala131Pro)
n.838G>C
c.307G>C (p.Ala103Pro)
n.831G>C
n.791G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.244863701C>TCA249113HNRNPUc.285G>A
c.607G>A (p.Ala203Thr)
n.792G>A
c.391G>A (p.Ala131Thr)
n.838G>A
c.307G>A (p.Ala103Thr)
n.831G>A
n.791G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863704delCA2651343161HNRNPUc.285del
c.607del (p.Ala203ArgfsTer?)
n.792del
c.391del (p.Ala131ArgfsTer?)
n.838del
c.307del (p.Ala103ArgfsTer18)
n.831del
n.791del
 gnomAD v4
1g.244863702C>ACA424402546HNRNPUc.284G>T
c.606G>T (p.Gly202=)
n.791G>T
c.390G>T (p.Gly130=)
n.837G>T
c.306G>T (p.Gly102=)
n.830G>T
n.790G>T
 gnomAD v4
1g.244863702C=CA1231007396HNRNPUc.284G=
c.606G= (p.Gly202=)
n.791G=
c.390G= (p.Gly130=)
n.837G=
c.306G= (p.Gly102=)
n.830G=
n.790G=
1g.244863702C>GCA424402545HNRNPUc.284G>C
c.606G>C (p.Gly202=)
n.791G>C
c.390G>C (p.Gly130=)
n.837G>C
c.306G>C (p.Gly102=)
n.830G>C
n.790G>C
1g.244863702C>TCA424402543HNRNPUc.284G>A
c.606G>A (p.Gly202=)
n.791G>A
c.390G>A (p.Gly130=)
n.837G>A
c.306G>A (p.Gly102=)
n.830G>A
n.790G>A
 dbSNP gnomAD v2 gnomAD v4
1g.244863702_244863705delinsCCCGCA1231007395HNRNPUc.281_284delinsCGGG
c.603_606delinsCGGG (p.Pro201=)
n.788_791delinsCGGG
c.387_390delinsCGGG (p.Pro129=)
n.834_837delinsCGGG
c.303_306delinsCGGG (p.Pro101=)
n.827_830delinsCGGG
n.787_790delinsCGGG
1g.244863703C>ACA345496365HNRNPUc.283G>T
c.605G>T (p.Gly202Val)
n.790G>T
c.389G>T (p.Gly130Val)
n.836G>T
c.305G>T (p.Gly102Val)
n.829G>T
n.789G>T
 gnomAD v4
1g.244863703C>GCA345496363HNRNPUc.283G>C
c.605G>C (p.Gly202Ala)
n.790G>C
c.389G>C (p.Gly130Ala)
n.836G>C
c.305G>C (p.Gly102Ala)
n.829G>C
n.789G>C
1g.244863703C>TCA345496361HNRNPUc.283G>A
c.605G>A (p.Gly202Glu)
n.790G>A
c.389G>A (p.Gly130Glu)
n.836G>A
c.305G>A (p.Gly102Glu)
n.829G>A
n.789G>A
 dbSNP gnomAD v4
1g.244863703_244863705delCA424402548HNRNPUc.281_283del
c.603_605del (p.Gly202del)
n.788_790del
c.387_389del (p.Gly130del)
n.834_836del
c.303_305del (p.Gly102del)
n.827_829del
n.787_789del
 dbSNP
1g.244863704C>ACA345496367HNRNPUc.282G>T
c.604G>T (p.Gly202Trp)
n.789G>T
c.388G>T (p.Gly130Trp)
n.835G>T
c.304G>T (p.Gly102Trp)
n.828G>T
n.788G>T
 gnomAD v4
1g.244863704C>GCA345496369HNRNPUc.282G>C
c.604G>C (p.Gly202Arg)
n.789G>C
c.388G>C (p.Gly130Arg)
n.835G>C
c.304G>C (p.Gly102Arg)
n.828G>C
n.788G>C
 gnomAD v4
1g.244863704C>TCA345496370HNRNPUc.282G>A
c.604G>A (p.Gly202Arg)
n.789G>A
c.388G>A (p.Gly130Arg)
n.835G>A
c.304G>A (p.Gly102Arg)
n.828G>A
n.788G>A
 gnomAD v4
1g.244863704_244863706delCA345496372HNRNPUc.280_282del
c.602_604del (p.Pro201_Gly202delinsArg)
n.787_789del
c.386_388del (p.Pro129_Gly130delinsArg)
n.833_835del
c.302_304del (p.Pro101_Gly102delinsArg)
n.826_828del
n.786_788del
1g.244863705G>ACA40505029HNRNPUc.281C>T
c.603C>T (p.Pro201=)
n.788C>T
c.387C>T (p.Pro129=)
n.834C>T
c.303C>T (p.Pro101=)
n.827C>T
n.787C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244863705G>CCA1486769HNRNPUc.281C>G
c.603C>G (p.Pro201=)
n.788C>G
c.387C>G (p.Pro129=)
n.834C>G
c.303C>G (p.Pro101=)
n.827C>G
n.787C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863705G=CA1231007397HNRNPUc.281C=
c.603C= (p.Pro201=)
n.788C=
c.387C= (p.Pro129=)
n.834C=
c.303C= (p.Pro101=)
n.827C=
n.787C=
1g.244863705G>TCA424402552HNRNPUc.281C>A
c.603C>A (p.Pro201=)
n.788C>A
c.387C>A (p.Pro129=)
n.834C>A
c.303C>A (p.Pro101=)
n.827C>A
n.787C>A
 gnomAD v4
1g.244863706G>ACA1486770HNRNPUc.280C>T
c.602C>T (p.Pro201Leu)
n.787C>T
c.386C>T (p.Pro129Leu)
n.833C>T
c.302C>T (p.Pro101Leu)
n.826C>T
n.786C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863706G>CCA345496374HNRNPUc.280C>G
c.602C>G (p.Pro201Arg)
n.787C>G
c.386C>G (p.Pro129Arg)
n.833C>G
c.302C>G (p.Pro101Arg)
n.826C>G
n.786C>G
1g.244863706G=CA1231007398HNRNPUc.280C=
c.602C= (p.Pro201=)
n.787C=
c.386C= (p.Pro129=)
n.833C=
c.302C= (p.Pro101=)
n.826C=
n.786C=
1g.244863706G>TCA345496375HNRNPUc.280C>A
c.602C>A (p.Pro201His)
n.787C>A
c.386C>A (p.Pro129His)
n.833C>A
c.302C>A (p.Pro101His)
n.826C>A
n.786C>A
 gnomAD v4
1g.244863707G>ACA40505032HNRNPUc.279C>T
c.601C>T (p.Pro201Ser)
n.786C>T
c.385C>T (p.Pro129Ser)
n.832C>T
c.301C>T (p.Pro101Ser)
n.825C>T
n.785C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244863707G>CCA345496377HNRNPUc.279C>G
c.601C>G (p.Pro201Ala)
n.786C>G
c.385C>G (p.Pro129Ala)
n.832C>G
c.301C>G (p.Pro101Ala)
n.825C>G
n.785C>G
1g.244863707G=CA1231007399HNRNPUc.279C=
c.601C= (p.Pro201=)
n.786C=
c.385C= (p.Pro129=)
n.832C=
c.301C= (p.Pro101=)
n.825C=
n.785C=
1g.244863707G>TCA345496382HNRNPUc.279C>A
c.601C>A (p.Pro201Thr)
n.786C>A
c.385C>A (p.Pro129Thr)
n.832C>A
c.301C>A (p.Pro101Thr)
n.825C>A
n.785C>A
 dbSNP gnomAD v3 gnomAD v4
1g.244863708C>ACA424402557HNRNPUc.278G>T
c.600G>T (p.Pro200=)
n.785G>T
c.384G>T (p.Pro128=)
n.831G>T
c.300G>T (p.Pro100=)
n.824G>T
n.784G>T
 gnomAD v4
1g.244863708C=CA1231007400HNRNPUc.278G=
c.600G= (p.Pro200=)
n.785G=
c.384G= (p.Pro128=)
n.831G=
c.300G= (p.Pro100=)
n.824G=
n.784G=
1g.244863708C>GCA424402559HNRNPUc.278G>C
c.600G>C (p.Pro200=)
n.785G>C
c.384G>C (p.Pro128=)
n.831G>C
c.300G>C (p.Pro100=)
n.824G>C
n.784G>C
 dbSNP gnomAD v2 gnomAD v4
1g.244863708C>TCA424402558HNRNPUc.278G>A
c.600G>A (p.Pro200=)
n.785G>A
c.384G>A (p.Pro128=)
n.831G>A
c.300G>A (p.Pro100=)
n.824G>A
n.784G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244863709G>ACA345496383HNRNPUc.277C>T
c.599C>T (p.Pro200Leu)
n.784C>T
c.383C>T (p.Pro128Leu)
n.830C>T
c.299C>T (p.Pro100Leu)
n.823C>T
n.783C>T
 ClinVar gnomAD v4
1g.244863709G>CCA345496385HNRNPUc.277C>G
c.599C>G (p.Pro200Arg)
n.784C>G
c.383C>G (p.Pro128Arg)
n.830C>G
c.299C>G (p.Pro100Arg)
n.823C>G
n.783C>G
1g.244863709G>TCA345496387HNRNPUc.277C>A
c.599C>A (p.Pro200Gln)
n.784C>A
c.383C>A (p.Pro128Gln)
n.830C>A
c.299C>A (p.Pro100Gln)
n.823C>A
n.783C>A
 gnomAD v4
1g.244863710G>ACA345496392HNRNPUc.276C>T
c.598C>T (p.Pro200Ser)
n.783C>T
c.382C>T (p.Pro128Ser)
n.829C>T
c.298C>T (p.Pro100Ser)
n.822C>T
n.782C>T
 gnomAD v4
1g.244863710G>CCA345496395HNRNPUc.276C>G
c.598C>G (p.Pro200Ala)
n.783C>G
c.382C>G (p.Pro128Ala)
n.829C>G
c.298C>G (p.Pro100Ala)
n.822C>G
n.782C>G
 ClinVar dbSNP
1g.244863710G>TCA345496390HNRNPUc.276C>A
c.598C>A (p.Pro200Thr)
n.783C>A
c.382C>A (p.Pro128Thr)
n.829C>A
c.298C>A (p.Pro100Thr)
n.822C>A
n.782C>A
 gnomAD v4
1g.244863711C>ACA424402564HNRNPUc.275G>T
c.597G>T (p.Ala199=)
n.782G>T
c.381G>T (p.Ala127=)
n.828G>T
c.297G>T (p.Ala99=)
n.821G>T
n.781G>T
 gnomAD v4
1g.244863711C=CA1231007401HNRNPUc.275G=
c.597G= (p.Ala199=)
n.782G=
c.381G= (p.Ala127=)
n.828G=
c.297G= (p.Ala99=)
n.821G=
n.781G=
1g.244863711C>GCA424402565HNRNPUc.275G>C
c.597G>C (p.Ala199=)
n.782G>C
c.381G>C (p.Ala127=)
n.828G>C
c.297G>C (p.Ala99=)
n.821G>C
n.781G>C
1g.244863711C>TCA424402566HNRNPUc.275G>A
c.597G>A (p.Ala199=)
n.782G>A
c.381G>A (p.Ala127=)
n.828G>A
c.297G>A (p.Ala99=)
n.821G>A
n.781G>A
 gnomAD v4
1g.244863712G>ACA345496397HNRNPUc.274C>T
c.596C>T (p.Ala199Val)
n.781C>T
c.380C>T (p.Ala127Val)
n.827C>T
c.296C>T (p.Ala99Val)
n.820C>T
n.780C>T
 ClinVar dbSNP gnomAD v4
1g.244863712G>CCA345496399HNRNPUc.274C>G
c.596C>G (p.Ala199Gly)
n.781C>G
c.380C>G (p.Ala127Gly)
n.827C>G
c.296C>G (p.Ala99Gly)
n.820C>G
n.780C>G
1g.244863712G=CA1231007402HNRNPUc.274C=
c.596C= (p.Ala199=)
n.781C=
c.380C= (p.Ala127=)
n.827C=
c.296C= (p.Ala99=)
n.820C=
n.780C=
1g.244863712G>TCA345496404HNRNPUc.274C>A
c.596C>A (p.Ala199Glu)
n.781C>A
c.380C>A (p.Ala127Glu)
n.827C>A
c.296C>A (p.Ala99Glu)
n.820C>A
n.780C>A
 gnomAD v4
1g.244863712dupCA645509096HNRNPUc.274dup
c.596dup (p.Pro200AlafsTer14)
c.596dup (p.Pro200AlafsTer24)
n.781dup
c.380dup (p.Pro128AlafsTer24)
n.827dup
c.296dup (p.Pro100AlafsTer?)
n.820dup
n.780dup
 ClinVar dbSNP gnomAD v4
1g.244863712_244863713insGCTGCGGCTGCGGCTGGAGATGGGTTCGTGCTGCAGAGCGGATCA2651343184HNRNPUc.273_274insATCCGCTCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCAGC
c.595_596insATCCGCTCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCAGC (p.Ala199AspfsTer29)
c.595_596insATCCGCTCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCAGC (p.Ala199AspfsTer39)
n.780_781insATCCGCTCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCAGC
c.379_380insATCCGCTCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCAGC (p.Ala127AspfsTer39)
n.826_827insATCCGCTCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCAGC
c.295_296insATCCGCTCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCAGC (p.Ala99AspfsTer?)
n.819_820insATCCGCTCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCAGC
n.779_780insATCCGCTCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCAGC
 gnomAD v4
1g.244863712_244863713insGCTGCGGCTGCGGCTGGAGATGGGTTCGTGCTGCAGAGCGGATCCGCCTGGTGTCGAACGGCGCCAATTCA2651343185HNRNPUc.273_274insAATTGGCGCCGTTCGACACCAGGCGGATCCGCTCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCAGC
c.595_596insAATTGGCGCCGTTCGACACCAGGCGGATCCGCTCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCAGC (p.Ala199delinsGluLeuAlaProPheAspThrArgArgIleArgSerAlaAlaArgThrHisLeuGlnProGlnProGlnPro)
n.780_781insAATTGGCGCCGTTCGACACCAGGCGGATCCGCTCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCAGC
c.379_380insAATTGGCGCCGTTCGACACCAGGCGGATCCGCTCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCAGC (p.Ala127delinsGluLeuAlaProPheAspThrArgArgIleArgSerAlaAlaArgThrHisLeuGlnProGlnProGlnPro)
n.826_827insAATTGGCGCCGTTCGACACCAGGCGGATCCGCTCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCAGC
c.295_296insAATTGGCGCCGTTCGACACCAGGCGGATCCGCTCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCAGC (p.Ala99delinsGluLeuAlaProPheAspThrArgArgIleArgSerAlaAlaArgThrHisLeuGlnProGlnProGlnPro)
n.819_820insAATTGGCGCCGTTCGACACCAGGCGGATCCGCTCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCAGC
n.779_780insAATTGGCGCCGTTCGACACCAGGCGGATCCGCTCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCAGC
 gnomAD v4
1g.244863713C>ACA345496406HNRNPUc.273G>T
c.595G>T (p.Ala199Ser)
n.780G>T
c.379G>T (p.Ala127Ser)
n.826G>T
c.295G>T (p.Ala99Ser)
n.819G>T
n.779G>T
 gnomAD v4
1g.244863713C>GCA345496407HNRNPUc.273G>C
c.595G>C (p.Ala199Pro)
n.780G>C
c.379G>C (p.Ala127Pro)
n.826G>C
c.295G>C (p.Ala99Pro)
n.819G>C
n.779G>C
 gnomAD v4
1g.244863713C>TCA345496408HNRNPUc.273G>A
c.595G>A (p.Ala199Thr)
n.780G>A
c.379G>A (p.Ala127Thr)
n.826G>A
c.295G>A (p.Ala99Thr)
n.819G>A
n.779G>A
1g.244863713_244863714insTGCGGCTGCGGCTGGAGATGGGTTCGTGCTGCA2572641099HNRNPUc.272_273insCAGCACGAACCCATCTCCAGCCGCAGCCGCA
c.594_595insCAGCACGAACCCATCTCCAGCCGCAGCCGCA (p.Ala199GlnfsTer25)
c.594_595insCAGCACGAACCCATCTCCAGCCGCAGCCGCA (p.Ala199GlnfsTer35)
n.779_780insCAGCACGAACCCATCTCCAGCCGCAGCCGCA
c.378_379insCAGCACGAACCCATCTCCAGCCGCAGCCGCA (p.Ala127GlnfsTer35)
n.825_826insCAGCACGAACCCATCTCCAGCCGCAGCCGCA
c.294_295insCAGCACGAACCCATCTCCAGCCGCAGCCGCA (p.Ala99GlnfsTer?)
n.818_819insCAGCACGAACCCATCTCCAGCCGCAGCCGCA
n.778_779insCAGCACGAACCCATCTCCAGCCGCAGCCGCA
 gnomAD v4
1g.244863714C>ACA424402573HNRNPUc.272G>T
c.594G>T (p.Val198=)
n.779G>T
c.378G>T (p.Val126=)
n.825G>T
c.294G>T (p.Val98=)
n.818G>T
n.778G>T
 gnomAD v4
1g.244863714C>GCA424402575HNRNPUc.272G>C
c.594G>C (p.Val198=)
n.779G>C
c.378G>C (p.Val126=)
n.825G>C
c.294G>C (p.Val98=)
n.818G>C
n.778G>C
1g.244863714C>TCA424402574HNRNPUc.272G>A
c.594G>A (p.Val198=)
n.779G>A
c.378G>A (p.Val126=)
n.825G>A
c.294G>A (p.Val98=)
n.818G>A
n.778G>A
 gnomAD v4
1g.244863714_244863715insTGCGGCTGCGGCTGGCA2651343190HNRNPUc.271_272insCCAGCCGCAGCCGCA
c.593_594insCCAGCCGCAGCCGCA (p.Val198_Ala199insGlnProGlnProGln)
n.778_779insCCAGCCGCAGCCGCA
c.377_378insCCAGCCGCAGCCGCA (p.Val126_Ala127insGlnProGlnProGln)
n.824_825insCCAGCCGCAGCCGCA
c.293_294insCCAGCCGCAGCCGCA (p.Val98_Ala99insGlnProGlnProGln)
n.817_818insCCAGCCGCAGCCGCA
n.777_778insCCAGCCGCAGCCGCA
 gnomAD v4
1g.244863714_244863715insTGCGGCTGCGGCTGGAGATGGGTTCGTGCTGCAGCA2651343191HNRNPUc.271_272insCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCA
c.593_594insCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCA (p.Ala199CysfsTer26)
c.593_594insCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCA (p.Ala199CysfsTer36)
n.778_779insCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCA
c.377_378insCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCA (p.Ala127CysfsTer36)
n.824_825insCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCA
c.293_294insCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCA (p.Ala99CysfsTer?)
n.817_818insCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCA
n.777_778insCTGCAGCACGAACCCATCTCCAGCCGCAGCCGCA
 gnomAD v4
1g.244863715A>CCA345496412HNRNPUc.271T>G
c.593T>G (p.Val198Gly)
n.778T>G
c.377T>G (p.Val126Gly)
n.824T>G
c.293T>G (p.Val98Gly)
n.817T>G
n.777T>G
1g.244863715A>GCA345496414HNRNPUc.271T>C
c.593T>C (p.Val198Ala)
n.778T>C
c.377T>C (p.Val126Ala)
n.824T>C
c.293T>C (p.Val98Ala)
n.817T>C
n.777T>C
1g.244863715A>TCA345496415HNRNPUc.271T>A
c.593T>A (p.Val198Glu)
n.778T>A
c.377T>A (p.Val126Glu)
n.824T>A
c.293T>A (p.Val98Glu)
n.817T>A
n.777T>A
 gnomAD v4
1g.244863715_244863716insGATGGGTCA2651343194HNRNPUc.270_271insACCCATC
c.592_593insACCCATC (p.Val198AspfsTer18)
c.592_593insACCCATC (p.Val198AspfsTer28)
n.777_778insACCCATC
c.376_377insACCCATC (p.Val126AspfsTer28)
n.823_824insACCCATC
c.292_293insACCCATC (p.Val98AspfsTer?)
n.816_817insACCCATC
n.776_777insACCCATC
 gnomAD v4
1g.244863715_244863716insGAGCGGATCA2532670718HNRNPUc.270_271insATCCGCTC
c.592_593insATCCGCTC (p.Val198AspfsTer?)
n.777_778insATCCGCTC
c.376_377insATCCGCTC (p.Val126AspfsTer?)
n.823_824insATCCGCTC
c.292_293insATCCGCTC (p.Val98AspfsTer26)
n.816_817insATCCGCTC
n.776_777insATCCGCTC
 gnomAD v4
1g.244863716C>ACA345496419HNRNPUc.270G>T
c.592G>T (p.Val198Leu)
n.777G>T
c.376G>T (p.Val126Leu)
n.823G>T
c.292G>T (p.Val98Leu)
n.816G>T
n.776G>T
 ClinVar dbSNP gnomAD v4
1g.244863716C=CA1231007403HNRNPUc.270G=
c.592G= (p.Val198=)
n.777G=
c.376G= (p.Val126=)
n.823G=
c.292G= (p.Val98=)
n.816G=
n.776G=
1g.244863716C>GCA345496420HNRNPUc.270G>C
c.592G>C (p.Val198Leu)
n.777G>C
c.376G>C (p.Val126Leu)
n.823G>C
c.292G>C (p.Val98Leu)
n.816G>C
n.776G>C
 gnomAD v4
1g.244863716C>TCA345496423HNRNPUc.270G>A
c.592G>A (p.Val198Met)
n.777G>A
c.376G>A (p.Val126Met)
n.823G>A
c.292G>A (p.Val98Met)
n.816G>A
n.776G>A
 gnomAD v4
1g.244863717C>ACA424402578HNRNPUc.269G>T
c.591G>T (p.Thr197=)
n.776G>T
c.375G>T (p.Thr125=)
n.822G>T
c.291G>T (p.Thr97=)
n.815G>T
n.775G>T
 gnomAD v4
1g.244863717C=CA1231007404HNRNPUc.269G=
c.591G= (p.Thr197=)
n.776G=
c.375G= (p.Thr125=)
n.822G=
c.291G= (p.Thr97=)
n.815G=
n.775G=
1g.244863717C>GCA424402582HNRNPUc.269G>C
c.591G>C (p.Thr197=)
n.776G>C
c.375G>C (p.Thr125=)
n.822G>C
c.291G>C (p.Thr97=)
n.815G>C
n.775G>C
 ClinVar dbSNP gnomAD v4
1g.244863717C>TCA424402584HNRNPUc.269G>A
c.591G>A (p.Thr197=)
n.776G>A
c.375G>A (p.Thr125=)
n.822G>A
c.291G>A (p.Thr97=)
n.815G>A
n.775G>A
 dbSNP gnomAD v4
1g.244863718G>ACA345496427HNRNPUc.268C>T
c.590C>T (p.Thr197Met)
n.775C>T
c.374C>T (p.Thr125Met)
n.821C>T
c.290C>T (p.Thr97Met)
n.814C>T
n.774C>T
 ClinVar gnomAD v4
1g.244863718G>CCA1486771HNRNPUc.268C>G
c.590C>G (p.Thr197Arg)
n.775C>G
c.374C>G (p.Thr125Arg)
n.821C>G
c.290C>G (p.Thr97Arg)
n.814C>G
n.774C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863718G=CA1231007405HNRNPUc.268C=
c.590C= (p.Thr197=)
n.775C=
c.374C= (p.Thr125=)
n.821C=
c.290C= (p.Thr97=)
n.814C=
n.774C=
1g.244863718G>TCA345496425HNRNPUc.268C>A
c.590C>A (p.Thr197Lys)
n.775C>A
c.374C>A (p.Thr125Lys)
n.821C>A
c.290C>A (p.Thr97Lys)
n.814C>A
n.774C>A
 gnomAD v4
1g.244863718_244863719insCCTGGTGTCGAACGGCGCCAATTCCTTCA2502396145HNRNPUc.267_268insAAGGAATTGGCGCCGTTCGACACCAGG
c.589_590insAAGGAATTGGCGCCGTTCGACACCAGG (p.Thr197delinsLysGlyIleGlyAlaValArgHisGlnAla)
n.774_775insAAGGAATTGGCGCCGTTCGACACCAGG
c.373_374insAAGGAATTGGCGCCGTTCGACACCAGG (p.Thr125delinsLysGlyIleGlyAlaValArgHisGlnAla)
n.820_821insAAGGAATTGGCGCCGTTCGACACCAGG
c.289_290insAAGGAATTGGCGCCGTTCGACACCAGG (p.Thr97delinsLysGlyIleGlyAlaValArgHisGlnAla)
n.813_814insAAGGAATTGGCGCCGTTCGACACCAGG
n.773_774insAAGGAATTGGCGCCGTTCGACACCAGG
1g.244863719T>ACA345496430HNRNPUc.267A>T
c.589A>T (p.Thr197Ser)
n.774A>T
c.373A>T (p.Thr125Ser)
n.820A>T
c.289A>T (p.Thr97Ser)
n.813A>T
n.773A>T
1g.244863719T>CCA345496432HNRNPUc.267A>G
c.589A>G (p.Thr197Ala)
n.774A>G
c.373A>G (p.Thr125Ala)
n.820A>G
c.289A>G (p.Thr97Ala)
n.813A>G
n.773A>G
1g.244863719T>GCA345496433HNRNPUc.267A>C
c.589A>C (p.Thr197Pro)
n.774A>C
c.373A>C (p.Thr125Pro)
n.820A>C
c.289A>C (p.Thr97Pro)
n.813A>C
n.773A>C
 gnomAD v4
1g.244863720C>ACA424402588HNRNPUc.266G>T
c.588G>T (p.Val196=)
n.773G>T
c.372G>T (p.Val124=)
n.819G>T
c.288G>T (p.Val96=)
n.812G>T
n.772G>T
 gnomAD v4
1g.244863720C>GCA424402590HNRNPUc.266G>C
c.588G>C (p.Val196=)
n.773G>C
c.372G>C (p.Val124=)
n.819G>C
c.288G>C (p.Val96=)
n.812G>C
n.772G>C
1g.244863720C>TCA424402591HNRNPUc.266G>A
c.588G>A (p.Val196=)
n.773G>A
c.372G>A (p.Val124=)
n.819G>A
c.288G>A (p.Val96=)
n.812G>A
n.772G>A
1g.244863721A>CCA345496436HNRNPUc.265T>G
c.587T>G (p.Val196Gly)
n.772T>G
c.371T>G (p.Val124Gly)
n.818T>G
c.287T>G (p.Val96Gly)
n.811T>G
n.771T>G
1g.244863721A>GCA345496438HNRNPUc.265T>C
c.587T>C (p.Val196Ala)
n.772T>C
c.371T>C (p.Val124Ala)
n.818T>C
c.287T>C (p.Val96Ala)
n.811T>C
n.771T>C
1g.244863721A>TCA345496440HNRNPUc.265T>A
c.587T>A (p.Val196Glu)
n.772T>A
c.371T>A (p.Val124Glu)
n.818T>A
c.287T>A (p.Val96Glu)
n.811T>A
n.771T>A
1g.244863722C>ACA345496442HNRNPUc.264G>T
c.586G>T (p.Val196Leu)
n.771G>T
c.370G>T (p.Val124Leu)
n.817G>T
c.286G>T (p.Val96Leu)
n.810G>T
n.770G>T
 gnomAD v4
1g.244863722C>GCA345496444HNRNPUc.264G>C
c.586G>C (p.Val196Leu)
n.771G>C
c.370G>C (p.Val124Leu)
n.817G>C
c.286G>C (p.Val96Leu)
n.810G>C
n.770G>C
 gnomAD v4
1g.244863722C>TCA345496445HNRNPUc.264G>A
c.586G>A (p.Val196Met)
n.771G>A
c.370G>A (p.Val124Met)
n.817G>A
c.286G>A (p.Val96Met)
n.810G>A
n.770G>A
 gnomAD v4
1g.244863723C>ACA424402597HNRNPUc.263G>T
c.585G>T (p.Ala195=)
n.770G>T
c.369G>T (p.Ala123=)
n.816G>T
c.285G>T (p.Ala95=)
n.809G>T
n.769G>T
 gnomAD v4
1g.244863723C=CA1231007406HNRNPUc.263G=
c.585G= (p.Ala195=)
n.770G=
c.369G= (p.Ala123=)
n.816G=
c.285G= (p.Ala95=)
n.809G=
n.769G=
1g.244863723C>GCA424402594HNRNPUc.263G>C
c.585G>C (p.Ala195=)
n.770G>C
c.369G>C (p.Ala123=)
n.816G>C
c.285G>C (p.Ala95=)
n.809G>C
n.769G>C
 gnomAD v4
1g.244863723C>TCA40505038HNRNPUc.263G>A
c.585G>A (p.Ala195=)
n.770G>A
c.369G>A (p.Ala123=)
n.816G>A
c.285G>A (p.Ala95=)
n.809G>A
n.769G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.244863724delCA2740092671HNRNPUc.262del
c.584del (p.Ala195GlyfsTer2)
n.769del
c.368del (p.Ala123GlyfsTer2)
n.815del
c.284del (p.Ala95GlyfsTer2)
n.808del
n.768del
 ClinVar
1g.244863724G>ACA345496447HNRNPUc.262C>T
c.584C>T (p.Ala195Val)
n.769C>T
c.368C>T (p.Ala123Val)
n.815C>T
c.284C>T (p.Ala95Val)
n.808C>T
n.768C>T
 ClinVar gnomAD v4
1g.244863724G>CCA345496449HNRNPUc.262C>G
c.584C>G (p.Ala195Gly)
n.769C>G
c.368C>G (p.Ala123Gly)
n.815C>G
c.284C>G (p.Ala95Gly)
n.808C>G
n.768C>G
1g.244863724G>TCA345496451HNRNPUc.262C>A
c.584C>A (p.Ala195Glu)
n.769C>A
c.368C>A (p.Ala123Glu)
n.815C>A
c.284C>A (p.Ala95Glu)
n.808C>A
n.768C>A
 ClinVar gnomAD v4
1g.244863725C>ACA345496456HNRNPUc.261G>T
c.583G>T (p.Ala195Ser)
n.768G>T
c.367G>T (p.Ala123Ser)
n.814G>T
c.283G>T (p.Ala95Ser)
n.807G>T
n.767G>T
 gnomAD v4
1g.244863725C=CA1231007407HNRNPUc.261G=
c.583G= (p.Ala195=)
n.768G=
c.367G= (p.Ala123=)
n.814G=
c.283G= (p.Ala95=)
n.807G=
n.767G=
1g.244863725C>GCA345496454HNRNPUc.261G>C
c.583G>C (p.Ala195Pro)
n.768G>C
c.367G>C (p.Ala123Pro)
n.814G>C
c.283G>C (p.Ala95Pro)
n.807G>C
n.767G>C
1g.244863725C>TCA1486772HNRNPUc.261G>A
c.583G>A (p.Ala195Thr)
n.768G>A
c.367G>A (p.Ala123Thr)
n.814G>A
c.283G>A (p.Ala95Thr)
n.807G>A
n.767G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863726G>ACA40505050HNRNPUc.260C>T
c.582C>T (p.Phe194=)
n.767C>T
c.366C>T (p.Phe122=)
n.813C>T
c.282C>T (p.Phe94=)
n.806C>T
n.766C>T
 dbSNP gnomAD v4
1g.244863726G>CCA1486773HNRNPUc.260C>G
c.582C>G (p.Phe194Leu)
n.767C>G
c.366C>G (p.Phe122Leu)
n.813C>G
c.282C>G (p.Phe94Leu)
n.806C>G
n.766C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863726G=CA1231007408HNRNPUc.260C=
c.582C= (p.Phe194=)
n.767C=
c.366C= (p.Phe122=)
n.813C=
c.282C= (p.Phe94=)
n.806C=
n.766C=
1g.244863726G>TCA1486774HNRNPUc.260C>A
c.582C>A (p.Phe194Leu)
n.767C>A
c.366C>A (p.Phe122Leu)
n.813C>A
c.282C>A (p.Phe94Leu)
n.806C>A
n.766C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863727A>CCA345496461HNRNPUc.259T>G
c.581T>G (p.Phe194Cys)
n.766T>G
c.365T>G (p.Phe122Cys)
n.812T>G
c.281T>G (p.Phe94Cys)
n.805T>G
n.765T>G
 gnomAD v4
1g.244863727A>GCA345496463HNRNPUc.259T>C
c.581T>C (p.Phe194Ser)
n.766T>C
c.365T>C (p.Phe122Ser)
n.812T>C
c.281T>C (p.Phe94Ser)
n.805T>C
n.765T>C
1g.244863727A>TCA345496462HNRNPUc.259T>A
c.581T>A (p.Phe194Tyr)
n.766T>A
c.365T>A (p.Phe122Tyr)
n.812T>A
c.281T>A (p.Phe94Tyr)
n.805T>A
n.765T>A
1g.244863728A=CA1231007409HNRNPUc.258T=
c.580T= (p.Phe194=)
n.765T=
c.364T= (p.Phe122=)
n.811T=
c.280T= (p.Phe94=)
n.804T=
n.764T=
1g.244863728A>CCA345496465HNRNPUc.258T>G
c.580T>G (p.Phe194Val)
n.765T>G
c.364T>G (p.Phe122Val)
n.811T>G
c.280T>G (p.Phe94Val)
n.804T>G
n.764T>G
1g.244863728A>GCA345496469HNRNPUc.258T>C
c.580T>C (p.Phe194Leu)
n.765T>C
c.364T>C (p.Phe122Leu)
n.811T>C
c.280T>C (p.Phe94Leu)
n.804T>C
n.764T>C
 dbSNP gnomAD v2 gnomAD v4
1g.244863728A>TCA345496468HNRNPUc.258T>A
c.580T>A (p.Phe194Ile)
n.765T>A
c.364T>A (p.Phe122Ile)
n.811T>A
c.280T>A (p.Phe94Ile)
n.804T>A
n.764T>A
1g.244863729C>ACA424402606HNRNPUc.257G>T
c.579G>T (p.Leu193=)
n.764G>T
c.363G>T (p.Leu121=)
n.810G>T
c.279G>T (p.Leu93=)
n.803G>T
n.763G>T
 dbSNP gnomAD v2 gnomAD v4
1g.244863729C=CA1231007410HNRNPUc.257G=
c.579G= (p.Leu193=)
n.764G=
c.363G= (p.Leu121=)
n.810G=
c.279G= (p.Leu93=)
n.803G=
n.763G=
1g.244863729C>GCA424402610HNRNPUc.257G>C
c.579G>C (p.Leu193=)
n.764G>C
c.363G>C (p.Leu121=)
n.810G>C
c.279G>C (p.Leu93=)
n.803G>C
n.763G>C
 gnomAD v4
1g.244863729C>TCA424402611HNRNPUc.257G>A
c.579G>A (p.Leu193=)
n.764G>A
c.363G>A (p.Leu121=)
n.810G>A
c.279G>A (p.Leu93=)
n.803G>A
n.763G>A
1g.244863730A>CCA345496471HNRNPUc.256T>G
c.578T>G (p.Leu193Arg)
n.763T>G
c.362T>G (p.Leu121Arg)
n.809T>G
c.278T>G (p.Leu93Arg)
n.802T>G
n.762T>G
1g.244863730A>GCA345496473HNRNPUc.256T>C
c.578T>C (p.Leu193Pro)
n.763T>C
c.362T>C (p.Leu121Pro)
n.809T>C
c.278T>C (p.Leu93Pro)
n.802T>C
n.762T>C
1g.244863730A>TCA345496474HNRNPUc.256T>A
c.578T>A (p.Leu193Gln)
n.763T>A
c.362T>A (p.Leu121Gln)
n.809T>A
c.278T>A (p.Leu93Gln)
n.802T>A
n.762T>A
1g.244863731G>ACA424402615HNRNPUc.255C>T
c.577C>T (p.Leu193=)
n.762C>T
c.361C>T (p.Leu121=)
n.808C>T
c.277C>T (p.Leu93=)
n.801C>T
n.761C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.244863731G>CCA345496477HNRNPUc.255C>G
c.577C>G (p.Leu193Val)
n.762C>G
c.361C>G (p.Leu121Val)
n.808C>G
c.277C>G (p.Leu93Val)
n.801C>G
n.761C>G
1g.244863731G=CA1231007411HNRNPUc.255C=
c.577C= (p.Leu193=)
n.762C=
c.361C= (p.Leu121=)
n.808C=
c.277C= (p.Leu93=)
n.801C=
n.761C=
1g.244863731G>TCA345496479HNRNPUc.255C>A
c.577C>A (p.Leu193Met)
n.762C>A
c.361C>A (p.Leu121Met)
n.808C>A
c.277C>A (p.Leu93Met)
n.801C>A
n.761C>A
 gnomAD v4
1g.244863733_244863748delCA2499214654HNRNPUc.240_255del
c.562_577del (p.Ser188CysfsTer4)
n.747_762del
c.346_361del (p.Ser116CysfsTer4)
n.793_808del
c.262_277del (p.Ser88CysfsTer4)
n.786_801del
n.746_761del
 ClinVar dbSNP
1g.244863732C>ACA424402617HNRNPUc.254G>T
c.576G>T (p.Ser192=)
n.761G>T
c.360G>T (p.Ser120=)
n.807G>T
c.276G>T (p.Ser92=)
n.800G>T
n.760G>T
 gnomAD v4
1g.244863732C=CA1231007412HNRNPUc.254G=
c.576G= (p.Ser192=)
n.761G=
c.360G= (p.Ser120=)
n.807G=
c.276G= (p.Ser92=)
n.800G=
n.760G=
1g.244863732C>GCA424402618HNRNPUc.254G>C
c.576G>C (p.Ser192=)
n.761G>C
c.360G>C (p.Ser120=)
n.807G>C
c.276G>C (p.Ser92=)
n.800G>C
n.760G>C
1g.244863732C>TCA424402620HNRNPUc.254G>A
c.576G>A (p.Ser192=)
n.761G>A
c.360G>A (p.Ser120=)
n.807G>A
c.276G>A (p.Ser92=)
n.800G>A
n.760G>A
 dbSNP gnomAD v2 gnomAD v4
1g.244863733G>ACA345496482HNRNPUc.253C>T
c.575C>T (p.Ser192Leu)
n.760C>T
c.359C>T (p.Ser120Leu)
n.806C>T
c.275C>T (p.Ser92Leu)
n.799C>T
n.759C>T
1g.244863733G>CCA345496483HNRNPUc.253C>G
c.575C>G (p.Ser192Trp)
n.760C>G
c.359C>G (p.Ser120Trp)
n.806C>G
c.275C>G (p.Ser92Trp)
n.799C>G
n.759C>G
 dbSNP gnomAD v2 gnomAD v4
1g.244863733G=CA1231007413HNRNPUc.253C=
c.575C= (p.Ser192=)
n.760C=
c.359C= (p.Ser120=)
n.806C=
c.275C= (p.Ser92=)
n.799C=
n.759C=
1g.244863733G>TCA345496485HNRNPUc.253C>A
c.575C>A (p.Ser192Ter)
n.760C>A
c.359C>A (p.Ser120Ter)
n.806C>A
c.275C>A (p.Ser92Ter)
n.799C>A
n.759C>A
 ClinVar dbSNP gnomAD v4
1g.244863734A>CCA345496487HNRNPUc.252T>G
c.574T>G (p.Ser192Ala)
n.759T>G
c.358T>G (p.Ser120Ala)
n.805T>G
c.274T>G (p.Ser92Ala)
n.798T>G
n.758T>G
1g.244863734A>GCA345496489HNRNPUc.252T>C
c.574T>C (p.Ser192Pro)
n.759T>C
c.358T>C (p.Ser120Pro)
n.805T>C
c.274T>C (p.Ser92Pro)
n.798T>C
n.758T>C
1g.244863734A>TCA345496490HNRNPUc.252T>A
c.574T>A (p.Ser192Thr)
n.759T>A
c.358T>A (p.Ser120Thr)
n.805T>A
c.274T>A (p.Ser92Thr)
n.798T>A
n.758T>A
 gnomAD v4
1g.244863735G>ACA424402626HNRNPUc.251C>T
c.573C>T (p.Thr191=)
n.758C>T
c.357C>T (p.Thr119=)
n.804C>T
c.273C>T (p.Thr91=)
n.797C>T
n.757C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244863735G>CCA424402627HNRNPUc.251C>G
c.573C>G (p.Thr191=)
n.758C>G
c.357C>G (p.Thr119=)
n.804C>G
c.273C>G (p.Thr91=)
n.797C>G
n.757C>G
 dbSNP gnomAD v3 gnomAD v4
1g.244863735G=CA1231007414HNRNPUc.251C=
c.573C= (p.Thr191=)
n.758C=
c.357C= (p.Thr119=)
n.804C=
c.273C= (p.Thr91=)
n.797C=
n.757C=
1g.244863735G>TCA424402628HNRNPUc.251C>A
c.573C>A (p.Thr191=)
n.758C>A
c.357C>A (p.Thr119=)
n.804C>A
c.273C>A (p.Thr91=)
n.797C>A
n.757C>A
 dbSNP gnomAD v4
1g.244863736G>ACA345496497HNRNPUc.250C>T
c.572C>T (p.Thr191Ile)
n.757C>T
c.356C>T (p.Thr119Ile)
n.803C>T
c.272C>T (p.Thr91Ile)
n.796C>T
n.756C>T
 gnomAD v4
1g.244863736G>CCA345496492HNRNPUc.250C>G
c.572C>G (p.Thr191Ser)
n.757C>G
c.356C>G (p.Thr119Ser)
n.803C>G
c.272C>G (p.Thr91Ser)
n.796C>G
n.756C>G
1g.244863736G=CA1231007415HNRNPUc.250C=
c.572C= (p.Thr191=)
n.757C=
c.356C= (p.Thr119=)
n.803C=
c.272C= (p.Thr91=)
n.796C=
n.756C=
1g.244863736G>TCA345496494HNRNPUc.250C>A
c.572C>A (p.Thr191Asn)
n.757C>A
c.356C>A (p.Thr119Asn)
n.803C>A
c.272C>A (p.Thr91Asn)
n.796C>A
n.756C>A
 gnomAD v4
1g.244863737T>ACA345496500HNRNPUc.249A>T
c.571A>T (p.Thr191Ser)
n.756A>T
c.355A>T (p.Thr119Ser)
n.802A>T
c.271A>T (p.Thr91Ser)
n.795A>T
n.755A>T
1g.244863737T>CCA345496501HNRNPUc.249A>G
c.571A>G (p.Thr191Ala)
n.756A>G
c.355A>G (p.Thr119Ala)
n.802A>G
c.271A>G (p.Thr91Ala)
n.795A>G
n.755A>G
 ClinVar dbSNP gnomAD v4
1g.244863737T>GCA345496502HNRNPUc.249A>C
c.571A>C (p.Thr191Pro)
n.756A>C
c.355A>C (p.Thr119Pro)
n.802A>C
c.271A>C (p.Thr91Pro)
n.795A>C
n.755A>C
1g.244863737T=CA1231007416HNRNPUc.249A=
c.571A= (p.Thr191=)
n.756A=
c.355A= (p.Thr119=)
n.802A=
c.271A= (p.Thr91=)
n.795A=
n.755A=
1g.244863737_244863758dupCA16617127HNRNPUc.228_249dup
c.550_571dup (p.Thr191SerfsTer30)
c.550_571dup (p.Thr191SerfsTer?)
n.735_756dup
c.334_355dup (p.Thr119SerfsTer?)
n.781_802dup
c.250_271dup (p.Thr91SerfsTer?)
n.774_795dup
n.734_755dup
 ClinVar dbSNP
1g.244863738G>ACA424402631HNRNPUc.248C>T
c.570C>T (p.Pro190=)
n.755C>T
c.354C>T (p.Pro118=)
n.801C>T
c.270C>T (p.Pro90=)
n.794C>T
n.754C>T
 gnomAD v4
1g.244863738G>CCA424402632HNRNPUc.248C>G
c.570C>G (p.Pro190=)
n.755C>G
c.354C>G (p.Pro118=)
n.801C>G
c.270C>G (p.Pro90=)
n.794C>G
n.754C>G
1g.244863738G>TCA424402633HNRNPUc.248C>A
c.570C>A (p.Pro190=)
n.755C>A
c.354C>A (p.Pro118=)
n.801C>A
c.270C>A (p.Pro90=)
n.794C>A
n.754C>A
1g.244863741delCA2651343226HNRNPUc.248del
c.570del (p.Thr191ProfsTer6)
n.755del
c.354del (p.Thr119ProfsTer6)
n.801del
c.270del (p.Thr91ProfsTer6)
n.794del
n.754del
 gnomAD v4
1g.244863739G>ACA345496503HNRNPUc.247C>T
c.569C>T (p.Pro190Leu)
n.754C>T
c.353C>T (p.Pro118Leu)
n.800C>T
c.269C>T (p.Pro90Leu)
n.793C>T
n.753C>T
 gnomAD v4
1g.244863739G>CCA345496505HNRNPUc.247C>G
c.569C>G (p.Pro190Arg)
n.754C>G
c.353C>G (p.Pro118Arg)
n.800C>G
c.269C>G (p.Pro90Arg)
n.793C>G
n.753C>G
1g.244863739G>TCA345496507HNRNPUc.247C>A
c.569C>A (p.Pro190His)
n.754C>A
c.353C>A (p.Pro118His)
n.800C>A
c.269C>A (p.Pro90His)
n.793C>A
n.753C>A
 gnomAD v4
1g.244863740G>ACA345496508HNRNPUc.246C>T
c.568C>T (p.Pro190Ser)
n.753C>T
c.352C>T (p.Pro118Ser)
n.799C>T
c.268C>T (p.Pro90Ser)
n.792C>T
n.752C>T
 gnomAD v4
1g.244863740G>CCA345496510HNRNPUc.246C>G
c.568C>G (p.Pro190Ala)
n.753C>G
c.352C>G (p.Pro118Ala)
n.799C>G
c.268C>G (p.Pro90Ala)
n.792C>G
n.752C>G
 ClinVar dbSNP gnomAD v4
1g.244863740G=CA1231007417HNRNPUc.246C=
c.568C= (p.Pro190=)
n.753C=
c.352C= (p.Pro118=)
n.799C=
c.268C= (p.Pro90=)
n.792C=
n.752C=
1g.244863740G>TCA345496512HNRNPUc.246C>A
c.568C>A (p.Pro190Thr)
n.753C>A
c.352C>A (p.Pro118Thr)
n.799C>A
c.268C>A (p.Pro90Thr)
n.792C>A
n.752C>A
1g.244863741G>ACA1486775HNRNPUc.245C>T
c.567C>T (p.Gly189=)
n.752C>T
c.351C>T (p.Gly117=)
n.798C>T
c.267C>T (p.Gly89=)
n.791C>T
n.751C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863741G>CCA424402637HNRNPUc.245C>G
c.567C>G (p.Gly189=)
n.752C>G
c.351C>G (p.Gly117=)
n.798C>G
c.267C>G (p.Gly89=)
n.791C>G
n.751C>G
1g.244863741G=CA1231007418HNRNPUc.245C=
c.567C= (p.Gly189=)
n.752C=
c.351C= (p.Gly117=)
n.798C=
c.267C= (p.Gly89=)
n.791C=
n.751C=
1g.244863741G>TCA424402638HNRNPUc.245C>A
c.567C>A (p.Gly189=)
n.752C>A
c.351C>A (p.Gly117=)
n.798C>A
c.267C>A (p.Gly89=)
n.791C>A
n.751C>A
 gnomAD v4
1g.244863742C>ACA345496517HNRNPUc.244G>T
c.566G>T (p.Gly189Val)
n.751G>T
c.350G>T (p.Gly117Val)
n.797G>T
c.266G>T (p.Gly89Val)
n.790G>T
n.750G>T
 gnomAD v4
1g.244863742C>GCA345496519HNRNPUc.244G>C
c.566G>C (p.Gly189Ala)
n.751G>C
c.350G>C (p.Gly117Ala)
n.797G>C
c.266G>C (p.Gly89Ala)
n.790G>C
n.750G>C
1g.244863742C>TCA345496516HNRNPUc.244G>A
c.566G>A (p.Gly189Asp)
n.751G>A
c.350G>A (p.Gly117Asp)
n.797G>A
c.266G>A (p.Gly89Asp)
n.790G>A
n.750G>A
 gnomAD v4
1g.244863743C>ACA345496522HNRNPUc.243G>T
c.565G>T (p.Gly189Cys)
n.750G>T
c.349G>T (p.Gly117Cys)
n.796G>T
c.265G>T (p.Gly89Cys)
n.789G>T
n.749G>T
 gnomAD v4
1g.244863743C=CA1143597639HNRNPUc.243G=
c.565G= (p.Gly189=)
n.750G=
c.349G= (p.Gly117=)
n.796G=
c.265G= (p.Gly89=)
n.789G=
n.749G=
1g.244863743C>GCA345496524HNRNPUc.243G>C
c.565G>C (p.Gly189Arg)
n.750G>C
c.349G>C (p.Gly117Arg)
n.796G>C
c.265G>C (p.Gly89Arg)
n.789G>C
n.749G>C
 gnomAD v4
1g.244863743C>TCA1486776HNRNPUc.243G>A
c.565G>A (p.Gly189Ser)
n.750G>A
c.349G>A (p.Gly117Ser)
n.796G>A
c.265G>A (p.Gly89Ser)
n.789G>A
n.749G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863744G>ACA424402642HNRNPUc.242C>T
c.564C>T (p.Ser188=)
n.749C>T
c.348C>T (p.Ser116=)
n.795C>T
c.264C>T (p.Ser88=)
n.788C>T
n.748C>T
 gnomAD v4
1g.244863744G>CCA345496527HNRNPUc.242C>G
c.564C>G (p.Ser188Arg)
n.749C>G
c.348C>G (p.Ser116Arg)
n.795C>G
c.264C>G (p.Ser88Arg)
n.788C>G
n.748C>G
 ClinVar dbSNP gnomAD v4
1g.244863744G>TCA345496529HNRNPUc.242C>A
c.564C>A (p.Ser188Arg)
n.749C>A
c.348C>A (p.Ser116Arg)
n.795C>A
c.264C>A (p.Ser88Arg)
n.788C>A
n.748C>A
1g.244863745C>ACA345496532HNRNPUc.241G>T
c.563G>T (p.Ser188Ile)
n.748G>T
c.347G>T (p.Ser116Ile)
n.794G>T
c.263G>T (p.Ser88Ile)
n.787G>T
n.747G>T
 gnomAD v4
1g.244863745C>GCA345496534HNRNPUc.241G>C
c.563G>C (p.Ser188Thr)
n.748G>C
c.347G>C (p.Ser116Thr)
n.794G>C
c.263G>C (p.Ser88Thr)
n.787G>C
n.747G>C
 gnomAD v4
1g.244863745C>TCA345496535HNRNPUc.241G>A
c.563G>A (p.Ser188Asn)
n.748G>A
c.347G>A (p.Ser116Asn)
n.794G>A
c.263G>A (p.Ser88Asn)
n.787G>A
n.747G>A
1g.244863746T>ACA345496538HNRNPUc.240A>T
c.562A>T (p.Ser188Cys)
n.747A>T
c.346A>T (p.Ser116Cys)
n.793A>T
c.262A>T (p.Ser88Cys)
n.786A>T
n.746A>T
1g.244863746T>CCA345496540HNRNPUc.240A>G
c.562A>G (p.Ser188Gly)
n.747A>G
c.346A>G (p.Ser116Gly)
n.793A>G
c.262A>G (p.Ser88Gly)
n.786A>G
n.746A>G
1g.244863746T>GCA345496541HNRNPUc.240A>C
c.562A>C (p.Ser188Arg)
n.747A>C
c.346A>C (p.Ser116Arg)
n.793A>C
c.262A>C (p.Ser88Arg)
n.786A>C
n.746A>C
1g.244863747G>ACA1486777HNRNPUc.239C>T
c.561C>T (p.Ser187=)
n.746C>T
c.345C>T (p.Ser115=)
n.792C>T
c.261C>T (p.Ser87=)
n.785C>T
n.745C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863747G>CCA345496546HNRNPUc.239C>G
c.561C>G (p.Ser187Arg)
n.746C>G
c.345C>G (p.Ser115Arg)
n.792C>G
c.261C>G (p.Ser87Arg)
n.785C>G
n.745C>G
1g.244863747G=CA1231007419HNRNPUc.239C=
c.561C= (p.Ser187=)
n.746C=
c.345C= (p.Ser115=)
n.792C=
c.261C= (p.Ser87=)
n.785C=
n.745C=
1g.244863747G>TCA345496544HNRNPUc.239C>A
c.561C>A (p.Ser187Arg)
n.746C>A
c.345C>A (p.Ser115Arg)
n.792C>A
c.261C>A (p.Ser87Arg)
n.785C>A
n.745C>A
 gnomAD v4
1g.244863748C>ACA345496548HNRNPUc.238G>T
c.560G>T (p.Ser187Ile)
n.745G>T
c.344G>T (p.Ser115Ile)
n.791G>T
c.260G>T (p.Ser87Ile)
n.784G>T
n.744G>T
1g.244863748C>GCA345496549HNRNPUc.238G>C
c.560G>C (p.Ser187Thr)
n.745G>C
c.344G>C (p.Ser115Thr)
n.791G>C
c.260G>C (p.Ser87Thr)
n.784G>C
n.744G>C
 ClinVar
1g.244863748C>TCA345496550HNRNPUc.238G>A
c.560G>A (p.Ser187Asn)
n.745G>A
c.344G>A (p.Ser115Asn)
n.791G>A
c.260G>A (p.Ser87Asn)
n.784G>A
n.744G>A
1g.244863751_244863764delCA2017997758HNRNPUc.225_238del
c.547_560del (p.Ala183GlnfsTer26)
c.547_560del (p.Ala183GlnfsTer?)
n.732_745del
c.331_344del (p.Ala111GlnfsTer?)
n.778_791del
c.247_260del (p.Ala83GlnfsTer?)
n.771_784del
n.731_744del
1g.244863749T>ACA345496553HNRNPUc.237A>T
c.559A>T (p.Ser187Cys)
n.744A>T
c.343A>T (p.Ser115Cys)
n.790A>T
c.259A>T (p.Ser87Cys)
n.783A>T
n.743A>T
1g.244863749T>CCA345496555HNRNPUc.237A>G
c.559A>G (p.Ser187Gly)
n.744A>G
c.343A>G (p.Ser115Gly)
n.790A>G
c.259A>G (p.Ser87Gly)
n.783A>G
n.743A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244863749T>GCA345496556HNRNPUc.237A>C
c.559A>C (p.Ser187Arg)
n.744A>C
c.343A>C (p.Ser115Arg)
n.790A>C
c.259A>C (p.Ser87Arg)
n.783A>C
n.743A>C
1g.244863749T=CA1231007420HNRNPUc.237A=
c.559A= (p.Ser187=)
n.744A=
c.343A= (p.Ser115=)
n.790A=
c.259A= (p.Ser87=)
n.783A=
n.743A=
1g.244863750C>ACA345496558HNRNPUc.236G>T
c.558G>T (p.Lys186Asn)
n.743G>T
c.342G>T (p.Lys114Asn)
n.789G>T
c.258G>T (p.Lys86Asn)
n.782G>T
n.742G>T
 dbSNP gnomAD v4
1g.244863750C=CA1231007421HNRNPUc.236G=
c.558G= (p.Lys186=)
n.743G=
c.342G= (p.Lys114=)
n.789G=
c.258G= (p.Lys86=)
n.782G=
n.742G=
1g.244863750C>GCA345496560HNRNPUc.236G>C
c.558G>C (p.Lys186Asn)
n.743G>C
c.342G>C (p.Lys114Asn)
n.789G>C
c.258G>C (p.Lys86Asn)
n.782G>C
n.742G>C
 gnomAD v4
1g.244863750C>TCA424402527HNRNPUc.236G>A
c.558G>A (p.Lys186=)
n.743G>A
c.342G>A (p.Lys114=)
n.789G>A
c.258G>A (p.Lys86=)
n.782G>A
n.742G>A
 dbSNP gnomAD v4
1g.244863751T>ACA1486778HNRNPUc.235A>T
c.557A>T (p.Lys186Met)
n.742A>T
c.341A>T (p.Lys114Met)
n.788A>T
c.257A>T (p.Lys86Met)
n.781A>T
n.741A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863751T>CCA345496564HNRNPUc.235A>G
c.557A>G (p.Lys186Arg)
n.742A>G
c.341A>G (p.Lys114Arg)
n.788A>G
c.257A>G (p.Lys86Arg)
n.781A>G
n.741A>G
1g.244863751T>GCA345496566HNRNPUc.235A>C
c.557A>C (p.Lys186Thr)
n.742A>C
c.341A>C (p.Lys114Thr)
n.788A>C
c.257A>C (p.Lys86Thr)
n.781A>C
n.741A>C
1g.244863751T=CA1143867263HNRNPUc.235A=
c.557A= (p.Lys186=)
n.742A=
c.341A= (p.Lys114=)
n.788A=
c.257A= (p.Lys86=)
n.781A=
n.741A=
1g.244863752T>ACA345496569HNRNPUc.234A>T
c.556A>T (p.Lys186Ter)
n.741A>T
c.340A>T (p.Lys114Ter)
n.787A>T
c.256A>T (p.Lys86Ter)
n.780A>T
n.740A>T
1g.244863752T>CCA345496571HNRNPUc.234A>G
c.556A>G (p.Lys186Glu)
n.741A>G
c.340A>G (p.Lys114Glu)
n.787A>G
c.256A>G (p.Lys86Glu)
n.780A>G
n.740A>G
 dbSNP
1g.244863752T>GCA345496572HNRNPUc.234A>C
c.556A>C (p.Lys186Gln)
n.741A>C
c.340A>C (p.Lys114Gln)
n.787A>C
c.256A>C (p.Lys86Gln)
n.780A>C
n.740A>C
1g.244863752T=CA1231007422HNRNPUc.234A=
c.556A= (p.Lys186=)
n.741A=
c.340A= (p.Lys114=)
n.787A=
c.256A= (p.Lys86=)
n.780A=
n.740A=
1g.244863753C>ACA424402533HNRNPUc.233G>T
c.555G>T (p.Gly185=)
n.740G>T
c.339G>T (p.Gly113=)
n.786G>T
c.255G>T (p.Gly85=)
n.779G>T
n.739G>T
 gnomAD v4
1g.244863753C=CA1231007423HNRNPUc.233G=
c.555G= (p.Gly185=)
n.740G=
c.339G= (p.Gly113=)
n.786G=
c.255G= (p.Gly85=)
n.779G=
n.739G=
1g.244863753C>GCA424402535HNRNPUc.233G>C
c.555G>C (p.Gly185=)
n.740G>C
c.339G>C (p.Gly113=)
n.786G>C
c.255G>C (p.Gly85=)
n.779G>C
n.739G>C
1g.244863753C>TCA424402537HNRNPUc.233G>A
c.555G>A (p.Gly185=)
n.740G>A
c.339G>A (p.Gly113=)
n.786G>A
c.255G>A (p.Gly85=)
n.779G>A
n.739G>A
 dbSNP gnomAD v4
1g.244863754_244863765delCA2651343257HNRNPUc.222_233del
c.544_555del (p.Glu182_Gly185del)
n.729_740del
c.328_339del (p.Glu110_Gly113del)
n.775_786del
c.244_255del (p.Glu82_Gly85del)
n.768_779del
n.728_739del
 gnomAD v4
1g.244863754C>ACA345496579HNRNPUc.232G>T
c.554G>T (p.Gly185Val)
n.739G>T
c.338G>T (p.Gly113Val)
n.785G>T
c.254G>T (p.Gly85Val)
n.778G>T
n.738G>T
 ClinVar dbSNP
1g.244863754C=CA1231007424HNRNPUc.232G=
c.554G= (p.Gly185=)
n.739G=
c.338G= (p.Gly113=)
n.785G=
c.254G= (p.Gly85=)
n.778G=
n.738G=
1g.244863754C>GCA345496577HNRNPUc.232G>C
c.554G>C (p.Gly185Ala)
n.739G>C
c.338G>C (p.Gly113Ala)
n.785G>C
c.254G>C (p.Gly85Ala)
n.778G>C
n.738G>C
1g.244863754C>TCA345496575HNRNPUc.232G>A
c.554G>A (p.Gly185Glu)
n.739G>A
c.338G>A (p.Gly113Glu)
n.785G>A
c.254G>A (p.Gly85Glu)
n.778G>A
n.738G>A
 ClinVar dbSNP
1g.244863755C>ACA345496584HNRNPUc.231G>T
c.553G>T (p.Gly185Trp)
n.738G>T
c.337G>T (p.Gly113Trp)
n.784G>T
c.253G>T (p.Gly85Trp)
n.777G>T
n.737G>T
 gnomAD v4
1g.244863755C=CA1231007425HNRNPUc.231G=
c.553G= (p.Gly185=)
n.738G=
c.337G= (p.Gly113=)
n.784G=
c.253G= (p.Gly85=)
n.777G=
n.737G=
1g.244863755C>GCA345496581HNRNPUc.231G>C
c.553G>C (p.Gly185Arg)
n.738G>C
c.337G>C (p.Gly113Arg)
n.784G>C
c.253G>C (p.Gly85Arg)
n.777G>C
n.737G>C
1g.244863755C>TCA1486779HNRNPUc.231G>A
c.553G>A (p.Gly185Arg)
n.738G>A
c.337G>A (p.Gly113Arg)
n.784G>A
c.253G>A (p.Gly85Arg)
n.777G>A
n.737G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863756C>ACA424402541HNRNPUc.230G>T
c.552G>T (p.Ala184=)
n.737G>T
c.336G>T (p.Ala112=)
n.783G>T
c.252G>T (p.Ala84=)
n.776G>T
n.736G>T
 gnomAD v4
1g.244863756C=CA1231007426HNRNPUc.230G=
c.552G= (p.Ala184=)
n.737G=
c.336G= (p.Ala112=)
n.783G=
c.252G= (p.Ala84=)
n.776G=
n.736G=
1g.244863756C>GCA424402542HNRNPUc.230G>C
c.552G>C (p.Ala184=)
n.737G>C
c.336G>C (p.Ala112=)
n.783G>C
c.252G>C (p.Ala84=)
n.776G>C
n.736G>C
1g.244863756C>TCA424402544HNRNPUc.230G>A
c.552G>A (p.Ala184=)
n.737G>A
c.336G>A (p.Ala112=)
n.783G>A
c.252G>A (p.Ala84=)
n.776G>A
n.736G>A
 dbSNP gnomAD v4
1g.244863757delCA2580063526HNRNPUc.229del
c.551del (p.Ala184GlyfsTer13)
n.736del
c.335del (p.Ala112GlyfsTer13)
n.782del
c.251del (p.Ala84GlyfsTer13)
n.775del
n.735del
 ClinVar dbSNP
1g.244863757G>ACA345496586HNRNPUc.229C>T
c.551C>T (p.Ala184Val)
n.736C>T
c.335C>T (p.Ala112Val)
n.782C>T
c.251C>T (p.Ala84Val)
n.775C>T
n.735C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.244863757G>CCA345496588HNRNPUc.229C>G
c.551C>G (p.Ala184Gly)
n.736C>G
c.335C>G (p.Ala112Gly)
n.782C>G
c.251C>G (p.Ala84Gly)
n.775C>G
n.735C>G
 ClinVar dbSNP gnomAD v4
1g.244863757G=CA1231007427HNRNPUc.229C=
c.551C= (p.Ala184=)
n.736C=
c.335C= (p.Ala112=)
n.782C=
c.251C= (p.Ala84=)
n.775C=
n.735C=
1g.244863757G>TCA345496590HNRNPUc.229C>A
c.551C>A (p.Ala184Glu)
n.736C>A
c.335C>A (p.Ala112Glu)
n.782C>A
c.251C>A (p.Ala84Glu)
n.775C>A
n.735C>A
1g.244863758C>ACA345496593HNRNPUc.228G>T
c.550G>T (p.Ala184Ser)
n.735G>T
c.334G>T (p.Ala112Ser)
n.781G>T
c.250G>T (p.Ala84Ser)
n.774G>T
n.734G>T
 gnomAD v4
1g.244863758C=CA1231007428HNRNPUc.228G=
c.550G= (p.Ala184=)
n.735G=
c.334G= (p.Ala112=)
n.781G=
c.250G= (p.Ala84=)
n.774G=
n.734G=
1g.244863758C>GCA345496594HNRNPUc.228G>C
c.550G>C (p.Ala184Pro)
n.735G>C
c.334G>C (p.Ala112Pro)
n.781G>C
c.250G>C (p.Ala84Pro)
n.774G>C
n.734G>C
1g.244863758C>TCA345496596HNRNPUc.228G>A
c.550G>A (p.Ala184Thr)
n.735G>A
c.334G>A (p.Ala112Thr)
n.781G>A
c.250G>A (p.Ala84Thr)
n.774G>A
n.734G>A
 dbSNP gnomAD v4
1g.244863759G>ACA424402549HNRNPUc.227C>T
c.549C>T (p.Ala183=)
n.734C>T
c.333C>T (p.Ala111=)
n.780C>T
c.249C>T (p.Ala83=)
n.773C>T
n.733C>T
 gnomAD v4
1g.244863759G>CCA424402550HNRNPUc.227C>G
c.549C>G (p.Ala183=)
n.734C>G
c.333C>G (p.Ala111=)
n.780C>G
c.249C>G (p.Ala83=)
n.773C>G
n.733C>G
 dbSNP gnomAD v3 gnomAD v4
1g.244863759G=CA1231007429HNRNPUc.227C=
c.549C= (p.Ala183=)
n.734C=
c.333C= (p.Ala111=)
n.780C=
c.249C= (p.Ala83=)
n.773C=
n.733C=
1g.244863759G>TCA424402551HNRNPUc.227C>A
c.549C>A (p.Ala183=)
n.734C>A
c.333C>A (p.Ala111=)
n.780C>A
c.249C>A (p.Ala83=)
n.773C>A
n.733C>A
1g.244863760G>ACA345496599HNRNPUc.226C>T
c.548C>T (p.Ala183Val)
n.733C>T
c.332C>T (p.Ala111Val)
n.779C>T
c.248C>T (p.Ala83Val)
n.772C>T
n.732C>T
 ClinVar dbSNP gnomAD v4
1g.244863760G>CCA345496601HNRNPUc.226C>G
c.548C>G (p.Ala183Gly)
n.733C>G
c.332C>G (p.Ala111Gly)
n.779C>G
c.248C>G (p.Ala83Gly)
n.772C>G
n.732C>G
1g.244863760G=CA1231007430HNRNPUc.226C=
c.548C= (p.Ala183=)
n.733C=
c.332C= (p.Ala111=)
n.779C=
c.248C= (p.Ala83=)
n.772C=
n.732C=
1g.244863760G>TCA345496603HNRNPUc.226C>A
c.548C>A (p.Ala183Asp)
n.733C>A
c.332C>A (p.Ala111Asp)
n.779C>A
c.248C>A (p.Ala83Asp)
n.772C>A
n.732C>A
 gnomAD v4
1g.244863761C>ACA345496605HNRNPUc.225G>T
c.547G>T (p.Ala183Ser)
n.732G>T
c.331G>T (p.Ala111Ser)
n.778G>T
c.247G>T (p.Ala83Ser)
n.771G>T
n.731G>T
 gnomAD v4
1g.244863761C>GCA345496606HNRNPUc.225G>C
c.547G>C (p.Ala183Pro)
n.732G>C
c.331G>C (p.Ala111Pro)
n.778G>C
c.247G>C (p.Ala83Pro)
n.771G>C
n.731G>C
1g.244863761C>TCA345496608HNRNPUc.225G>A
c.547G>A (p.Ala183Thr)
n.732G>A
c.331G>A (p.Ala111Thr)
n.778G>A
c.247G>A (p.Ala83Thr)
n.771G>A
n.731G>A
 gnomAD v4
1g.244863762C>ACA345496612HNRNPUc.224G>T
c.546G>T (p.Glu182Asp)
n.731G>T
c.330G>T (p.Glu110Asp)
n.777G>T
c.246G>T (p.Glu82Asp)
n.770G>T
n.730G>T
 ClinVar gnomAD v4
1g.244863762C>GCA345496610HNRNPUc.224G>C
c.546G>C (p.Glu182Asp)
n.731G>C
c.330G>C (p.Glu110Asp)
n.777G>C
c.246G>C (p.Glu82Asp)
n.770G>C
n.730G>C
1g.244863762C>TCA424402556HNRNPUc.224G>A
c.546G>A (p.Glu182=)
n.731G>A
c.330G>A (p.Glu110=)
n.777G>A
c.246G>A (p.Glu82=)
n.770G>A
n.730G>A
1g.244863763T>ACA345496615HNRNPUc.223A>T
c.545A>T (p.Glu182Val)
n.730A>T
c.329A>T (p.Glu110Val)
n.776A>T
c.245A>T (p.Glu82Val)
n.769A>T
n.729A>T
1g.244863763T>CCA345496616HNRNPUc.223A>G
c.545A>G (p.Glu182Gly)
n.730A>G
c.329A>G (p.Glu110Gly)
n.776A>G
c.245A>G (p.Glu82Gly)
n.769A>G
n.729A>G
1g.244863763T>GCA345496617HNRNPUc.223A>C
c.545A>C (p.Glu182Ala)
n.730A>C
c.329A>C (p.Glu110Ala)
n.776A>C
c.245A>C (p.Glu82Ala)
n.769A>C
n.729A>C
1g.244863764C>ACA345496620HNRNPUc.222G>T
c.544G>T (p.Glu182Ter)
n.729G>T
c.328G>T (p.Glu110Ter)
n.775G>T
c.244G>T (p.Glu82Ter)
n.768G>T
n.728G>T
1g.244863764C>GCA345496621HNRNPUc.222G>C
c.544G>C (p.Glu182Gln)
n.729G>C
c.328G>C (p.Glu110Gln)
n.775G>C
c.244G>C (p.Glu82Gln)
n.768G>C
n.728G>C
1g.244863764C>TCA345496623HNRNPUc.222G>A
c.544G>A (p.Glu182Lys)
n.729G>A
c.328G>A (p.Glu110Lys)
n.775G>A
c.244G>A (p.Glu82Lys)
n.768G>A
n.728G>A
1g.244863765C>ACA345496627HNRNPUc.221G>T
c.543G>T (p.Lys181Asn)
n.728G>T
c.327G>T (p.Lys109Asn)
n.774G>T
c.243G>T (p.Lys81Asn)
n.767G>T
n.727G>T
1g.244863765C>GCA345496626HNRNPUc.221G>C
c.543G>C (p.Lys181Asn)
n.728G>C
c.327G>C (p.Lys109Asn)
n.774G>C
c.243G>C (p.Lys81Asn)
n.767G>C
n.727G>C
1g.244863765C>TCA424402563HNRNPUc.221G>A
c.543G>A (p.Lys181=)
n.728G>A
c.327G>A (p.Lys109=)
n.774G>A
c.243G>A (p.Lys81=)
n.767G>A
n.727G>A
 ClinVar gnomAD v4
1g.244863766T>ACA345496630HNRNPUc.220A>T
c.542A>T (p.Lys181Met)
n.727A>T
c.326A>T (p.Lys109Met)
n.773A>T
c.242A>T (p.Lys81Met)
n.766A>T
n.726A>T
1g.244863766T>CCA345496632HNRNPUc.220A>G
c.542A>G (p.Lys181Arg)
n.727A>G
c.326A>G (p.Lys109Arg)
n.773A>G
c.242A>G (p.Lys81Arg)
n.766A>G
n.726A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244863766T>GCA1486780HNRNPUc.220A>C
c.542A>C (p.Lys181Thr)
n.727A>C
c.326A>C (p.Lys109Thr)
n.773A>C
c.242A>C (p.Lys81Thr)
n.766A>C
n.726A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863766T=CA1148459090HNRNPUc.220A=
c.542A= (p.Lys181=)
n.727A=
c.326A= (p.Lys109=)
n.773A=
c.242A= (p.Lys81=)
n.766A=
n.726A=
1g.244863767T>ACA345496636HNRNPUc.219A>T
c.541A>T (p.Lys181Ter)
n.726A>T
c.325A>T (p.Lys109Ter)
n.772A>T
c.241A>T (p.Lys81Ter)
n.765A>T
n.725A>T
1g.244863767T>CCA345496637HNRNPUc.219A>G
c.541A>G (p.Lys181Glu)
n.726A>G
c.325A>G (p.Lys109Glu)
n.772A>G
c.241A>G (p.Lys81Glu)
n.765A>G
n.725A>G
 ClinVar dbSNP gnomAD v4
1g.244863767T>GCA345496639HNRNPUc.219A>C
c.541A>C (p.Lys181Gln)
n.726A>C
c.325A>C (p.Lys109Gln)
n.772A>C
c.241A>C (p.Lys81Gln)
n.765A>C
n.725A>C
1g.244863767T=CA1231007431HNRNPUc.219A=
c.541A= (p.Lys181=)
n.726A=
c.325A= (p.Lys109=)
n.772A=
c.241A= (p.Lys81=)
n.765A=
n.725A=
1g.244863767_244863768delCA2651343277HNRNPUc.218_219del
c.540_541del (p.Lys181GlyfsTer?)
n.725_726del
c.324_325del (p.Lys109GlyfsTer?)
n.771_772del
c.240_241del (p.Lys81GlyfsTer?)
n.764_765del
n.724_725del
 gnomAD v4
1g.244863768G>ACA424402570HNRNPUc.218C>T
c.540C>T (p.Ala180=)
n.725C>T
c.324C>T (p.Ala108=)
n.771C>T
c.240C>T (p.Ala80=)
n.764C>T
n.724C>T
 gnomAD v4
1g.244863768G>CCA424402571HNRNPUc.218C>G
c.540C>G (p.Ala180=)
n.725C>G
c.324C>G (p.Ala108=)
n.771C>G
c.240C>G (p.Ala80=)
n.764C>G
n.724C>G
 gnomAD v4
1g.244863768G>TCA424402572HNRNPUc.218C>A
c.540C>A (p.Ala180=)
n.725C>A
c.324C>A (p.Ala108=)
n.771C>A
c.240C>A (p.Ala80=)
n.764C>A
n.724C>A
 gnomAD v4
1g.244863771_244863773delCA2580611582HNRNPUc.216_218del
c.538_540del (p.Ala180del)
n.723_725del
c.322_324del (p.Ala108del)
n.769_771del
c.238_240del (p.Ala80del)
n.762_764del
n.722_724del
 ClinVar dbSNP gnomAD v4
1g.244863769G>ACA345496641HNRNPUc.217C>T
c.539C>T (p.Ala180Val)
n.724C>T
c.323C>T (p.Ala108Val)
n.770C>T
c.239C>T (p.Ala80Val)
n.763C>T
n.723C>T
1g.244863769G>CCA345496644HNRNPUc.217C>G
c.539C>G (p.Ala180Gly)
n.724C>G
c.323C>G (p.Ala108Gly)
n.770C>G
c.239C>G (p.Ala80Gly)
n.763C>G
n.723C>G
1g.244863769G>TCA345496643HNRNPUc.217C>A
c.539C>A (p.Ala180Asp)
n.724C>A
c.323C>A (p.Ala108Asp)
n.770C>A
c.239C>A (p.Ala80Asp)
n.763C>A
n.723C>A
 gnomAD v4
1g.244863770C>ACA345496646HNRNPUc.216G>T
c.538G>T (p.Ala180Ser)
n.723G>T
c.322G>T (p.Ala108Ser)
n.769G>T
c.238G>T (p.Ala80Ser)
n.762G>T
n.722G>T
 gnomAD v4
1g.244863770C>GCA345496648HNRNPUc.216G>C
c.538G>C (p.Ala180Pro)
n.723G>C
c.322G>C (p.Ala108Pro)
n.769G>C
c.238G>C (p.Ala80Pro)
n.762G>C
n.722G>C
1g.244863770C>TCA345496650HNRNPUc.216G>A
c.538G>A (p.Ala180Thr)
n.723G>A
c.322G>A (p.Ala108Thr)
n.769G>A
c.238G>A (p.Ala80Thr)
n.762G>A
n.722G>A
 ClinVar gnomAD v4
1g.244863770_244863771insTCGACA2651343282HNRNPUc.215_216insTCGA
c.537_538insTCGA (p.Ala180SerfsTer?)
n.722_723insTCGA
c.321_322insTCGA (p.Ala108SerfsTer?)
n.768_769insTCGA
c.237_238insTCGA (p.Ala80SerfsTer?)
n.761_762insTCGA
n.721_722insTCGA
 gnomAD v4
1g.244863771G>ACA424402581HNRNPUc.215C>T
c.537C>T (p.Ala179=)
n.722C>T
c.321C>T (p.Ala107=)
n.768C>T
c.237C>T (p.Ala79=)
n.761C>T
n.721C>T
 dbSNP gnomAD v2 gnomAD v4
1g.244863771G>CCA424402579HNRNPUc.215C>G
c.537C>G (p.Ala179=)
n.722C>G
c.321C>G (p.Ala107=)
n.768C>G
c.237C>G (p.Ala79=)
n.761C>G
n.721C>G
1g.244863771G=CA1231007432HNRNPUc.215C=
c.537C= (p.Ala179=)
n.722C=
c.321C= (p.Ala107=)
n.768C=
c.237C= (p.Ala79=)
n.761C=
n.721C=
1g.244863771G>TCA424402576HNRNPUc.215C>A
c.537C>A (p.Ala179=)
n.722C>A
c.321C>A (p.Ala107=)
n.768C>A
c.237C>A (p.Ala79=)
n.761C>A
n.721C>A
 gnomAD v4
1g.244863774_244863792delCA645532140HNRNPUc.197_215del
c.519_537del (p.Gln174ProfsTer17)
n.704_722del
c.303_321del (p.Gln102ProfsTer17)
n.750_768del
c.219_237del (p.Gln74ProfsTer17)
n.743_761del
n.703_721del
 COSMIC COSMIC
1g.244863772G>ACA345496652HNRNPUc.214C>T
c.536C>T (p.Ala179Val)
n.721C>T
c.320C>T (p.Ala107Val)
n.767C>T
c.236C>T (p.Ala79Val)
n.760C>T
n.720C>T
1g.244863772G>CCA345496654HNRNPUc.214C>G
c.536C>G (p.Ala179Gly)
n.721C>G
c.320C>G (p.Ala107Gly)
n.767C>G
c.236C>G (p.Ala79Gly)
n.760C>G
n.720C>G
1g.244863772G>TCA345496656HNRNPUc.214C>A
c.536C>A (p.Ala179Asp)
n.721C>A
c.320C>A (p.Ala107Asp)
n.767C>A
c.236C>A (p.Ala79Asp)
n.760C>A
n.720C>A
 gnomAD v4
1g.244863773C>ACA345496658HNRNPUc.213G>T
c.535G>T (p.Ala179Ser)
n.720G>T
c.319G>T (p.Ala107Ser)
n.766G>T
c.235G>T (p.Ala79Ser)
n.759G>T
n.719G>T
 gnomAD v4
1g.244863773C=CA1144246572HNRNPUc.213G=
c.535G= (p.Ala179=)
n.720G=
c.319G= (p.Ala107=)
n.766G=
c.235G= (p.Ala79=)
n.759G=
n.719G=
1g.244863773C>GCA345496660HNRNPUc.213G>C
c.535G>C (p.Ala179Pro)
n.720G>C
c.319G>C (p.Ala107Pro)
n.766G>C
c.235G>C (p.Ala79Pro)
n.759G>C
n.719G>C
1g.244863773C>TCA40505070HNRNPUc.213G>A
c.535G>A (p.Ala179Thr)
n.720G>A
c.319G>A (p.Ala107Thr)
n.766G>A
c.235G>A (p.Ala79Thr)
n.759G>A
n.719G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244863776delCA2651343287HNRNPUc.213del
c.535del (p.Ala179ProfsTer18)
n.720del
c.319del (p.Ala107ProfsTer18)
n.766del
c.235del (p.Ala79ProfsTer18)
n.759del
n.719del
 gnomAD v4
1g.244863774C>ACA424402587HNRNPUc.212G>T
c.534G>T (p.Gly178=)
n.719G>T
c.318G>T (p.Gly106=)
n.765G>T
c.234G>T (p.Gly78=)
n.758G>T
n.718G>T
1g.244863774C>GCA424402586HNRNPUc.212G>C
c.534G>C (p.Gly178=)
n.719G>C
c.318G>C (p.Gly106=)
n.765G>C
c.234G>C (p.Gly78=)
n.758G>C
n.718G>C
1g.244863774C>TCA424402585HNRNPUc.212G>A
c.534G>A (p.Gly178=)
n.719G>A
c.318G>A (p.Gly106=)
n.765G>A
c.234G>A (p.Gly78=)
n.758G>A
n.718G>A
 gnomAD v4
1g.244863775C>ACA345496664HNRNPUc.211G>T
c.533G>T (p.Gly178Val)
n.718G>T
c.317G>T (p.Gly106Val)
n.764G>T
c.233G>T (p.Gly78Val)
n.757G>T
n.717G>T
 gnomAD v4
1g.244863775C=CA1231007433HNRNPUc.211G=
c.533G= (p.Gly178=)
n.718G=
c.317G= (p.Gly106=)
n.764G=
c.233G= (p.Gly78=)
n.757G=
n.717G=
1g.244863775C>GCA345496665HNRNPUc.211G>C
c.533G>C (p.Gly178Ala)
n.718G>C
c.317G>C (p.Gly106Ala)
n.764G>C
c.233G>C (p.Gly78Ala)
n.757G>C
n.717G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.244863775C>TCA345496667HNRNPUc.211G>A
c.533G>A (p.Gly178Glu)
n.718G>A
c.317G>A (p.Gly106Glu)
n.764G>A
c.233G>A (p.Gly78Glu)
n.757G>A
n.717G>A
1g.244863776C>ACA345496674HNRNPUc.210G>T
c.532G>T (p.Gly178Trp)
n.717G>T
c.316G>T (p.Gly106Trp)
n.763G>T
c.232G>T (p.Gly78Trp)
n.756G>T
n.716G>T
 gnomAD v4
1g.244863776C=CA1231007434HNRNPUc.210G=
c.532G= (p.Gly178=)
n.717G=
c.316G= (p.Gly106=)
n.763G=
c.232G= (p.Gly78=)
n.756G=
n.716G=
1g.244863776C>GCA345496670HNRNPUc.210G>C
c.532G>C (p.Gly178Arg)
n.717G>C
c.316G>C (p.Gly106Arg)
n.763G>C
c.232G>C (p.Gly78Arg)
n.756G>C
n.716G>C
 dbSNP gnomAD v2 gnomAD v4
1g.244863776C>TCA345496672HNRNPUc.210G>A
c.532G>A (p.Gly178Arg)
n.717G>A
c.316G>A (p.Gly106Arg)
n.763G>A
c.232G>A (p.Gly78Arg)
n.756G>A
n.716G>A
 gnomAD v4
1g.244863777G>ACA424402592HNRNPUc.209C>T
c.531C>T (p.Arg177=)
n.716C>T
c.315C>T (p.Arg105=)
n.762C>T
c.231C>T (p.Arg77=)
n.755C>T
n.715C>T
 ClinVar gnomAD v4
1g.244863777G>CCA424402593HNRNPUc.209C>G
c.531C>G (p.Arg177=)
n.716C>G
c.315C>G (p.Arg105=)
n.762C>G
c.231C>G (p.Arg77=)
n.755C>G
n.715C>G
1g.244863777G=CA1144163865HNRNPUc.209C=
c.531C= (p.Arg177=)
n.716C=
c.315C= (p.Arg105=)
n.762C=
c.231C= (p.Arg77=)
n.755C=
n.715C=
1g.244863777G>TCA1486781HNRNPUc.209C>A
c.531C>A (p.Arg177=)
n.716C>A
c.315C>A (p.Arg105=)
n.762C>A
c.231C>A (p.Arg77=)
n.755C>A
n.715C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863778C>ACA345496676HNRNPUc.208G>T
c.530G>T (p.Arg177Leu)
n.715G>T
c.314G>T (p.Arg105Leu)
n.761G>T
c.230G>T (p.Arg77Leu)
n.754G>T
n.714G>T
 gnomAD v4
1g.244863778C=CA1231007435HNRNPUc.208G=
c.530G= (p.Arg177=)
n.715G=
c.314G= (p.Arg105=)
n.761G=
c.230G= (p.Arg77=)
n.754G=
n.714G=
1g.244863778C>GCA345496678HNRNPUc.208G>C
c.530G>C (p.Arg177Pro)
n.715G>C
c.314G>C (p.Arg105Pro)
n.761G>C
c.230G>C (p.Arg77Pro)
n.754G>C
n.714G>C
1g.244863778C>TCA1486782HNRNPUc.208G>A
c.530G>A (p.Arg177His)
n.715G>A
c.314G>A (p.Arg105His)
n.761G>A
c.230G>A (p.Arg77His)
n.754G>A
n.714G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863779G>ACA345496681HNRNPUc.207C>T
c.529C>T (p.Arg177Cys)
n.714C>T
c.313C>T (p.Arg105Cys)
n.760C>T
c.229C>T (p.Arg77Cys)
n.753C>T
n.713C>T
1g.244863779G>CCA1486783HNRNPUc.207C>G
c.529C>G (p.Arg177Gly)
n.714C>G
c.313C>G (p.Arg105Gly)
n.760C>G
c.229C>G (p.Arg77Gly)
n.753C>G
n.713C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863779G=CA1148727928HNRNPUc.207C=
c.529C= (p.Arg177=)
n.714C=
c.313C= (p.Arg105=)
n.760C=
c.229C= (p.Arg77=)
n.753C=
n.713C=
1g.244863779G>TCA345496683HNRNPUc.207C>A
c.529C>A (p.Arg177Ser)
n.714C>A
c.313C>A (p.Arg105Ser)
n.760C>A
c.229C>A (p.Arg77Ser)
n.753C>A
n.713C>A
1g.244863780C>ACA345496685HNRNPUc.206G>T
c.528G>T (p.Gln176His)
n.713G>T
c.312G>T (p.Gln104His)
n.759G>T
c.228G>T (p.Gln76His)
n.752G>T
n.712G>T
 gnomAD v4
1g.244863780C>GCA345496687HNRNPUc.206G>C
c.528G>C (p.Gln176His)
n.713G>C
c.312G>C (p.Gln104His)
n.759G>C
c.228G>C (p.Gln76His)
n.752G>C
n.712G>C
 ClinVar
1g.244863780C>TCA424402599HNRNPUc.206G>A
c.528G>A (p.Gln176=)
n.713G>A
c.312G>A (p.Gln104=)
n.759G>A
c.228G>A (p.Gln76=)
n.752G>A
n.712G>A
 gnomAD v4
1g.244863781T>ACA345496688HNRNPUc.205A>T
c.527A>T (p.Gln176Leu)
n.712A>T
c.311A>T (p.Gln104Leu)
n.758A>T
c.227A>T (p.Gln76Leu)
n.751A>T
n.711A>T
1g.244863781T>CCA345496689HNRNPUc.205A>G
c.527A>G (p.Gln176Arg)
n.712A>G
c.311A>G (p.Gln104Arg)
n.758A>G
c.227A>G (p.Gln76Arg)
n.751A>G
n.711A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.244863781T>GCA345496691HNRNPUc.205A>C
c.527A>C (p.Gln176Pro)
n.712A>C
c.311A>C (p.Gln104Pro)
n.758A>C
c.227A>C (p.Gln76Pro)
n.751A>C
n.711A>C
1g.244863781T=CA1231007436HNRNPUc.205A=
c.527A= (p.Gln176=)
n.712A=
c.311A= (p.Gln104=)
n.758A=
c.227A= (p.Gln76=)
n.751A=
n.711A=
1g.244863781_244863789delCA2651343302HNRNPUc.197_205del
c.519_527del (p.Gln174_Gln176del)
n.704_712del
c.303_311del (p.Gln102_Gln104del)
n.750_758del
c.219_227del (p.Gln74_Gln76del)
n.743_751del
n.703_711del
 gnomAD v4
1g.244863782G>ACA345496698HNRNPUc.204C>T
c.526C>T (p.Gln176Ter)
n.711C>T
c.310C>T (p.Gln104Ter)
n.757C>T
c.226C>T (p.Gln76Ter)
n.750C>T
n.710C>T
1g.244863782G>CCA345496694HNRNPUc.204C>G
c.526C>G (p.Gln176Glu)
n.711C>G
c.310C>G (p.Gln104Glu)
n.757C>G
c.226C>G (p.Gln76Glu)
n.750C>G
n.710C>G
1g.244863782G>TCA345496696HNRNPUc.204C>A
c.526C>A (p.Gln176Lys)
n.711C>A
c.310C>A (p.Gln104Lys)
n.757C>A
c.226C>A (p.Gln76Lys)
n.750C>A
n.710C>A
 gnomAD v4
1g.244863789_244863797dupCA1486784HNRNPUc.196_204dup
c.518_526dup (p.Gln175_Gln176insProGlnGln)
n.703_711dup
c.302_310dup (p.Gln103_Gln104insProGlnGln)
n.749_757dup
c.218_226dup (p.Gln75_Gln76insProGlnGln)
n.742_750dup
n.702_710dup
 dbSNP ExAC gnomAD v2
1g.244863783C>ACA345496703HNRNPUc.203G>T
c.525G>T (p.Gln175His)
n.710G>T
c.309G>T (p.Gln103His)
n.756G>T
c.225G>T (p.Gln75His)
n.749G>T
n.709G>T
1g.244863783C>GCA345496702HNRNPUc.203G>C
c.525G>C (p.Gln175His)
n.710G>C
c.309G>C (p.Gln103His)
n.756G>C
c.225G>C (p.Gln75His)
n.749G>C
n.709G>C
1g.244863783C>TCA424402604HNRNPUc.203G>A
c.525G>A (p.Gln175=)
n.710G>A
c.309G>A (p.Gln103=)
n.756G>A
c.225G>A (p.Gln75=)
n.749G>A
n.709G>A
 gnomAD v4
1g.244863784T>ACA345496708HNRNPUc.202A>T
c.524A>T (p.Gln175Leu)
n.709A>T
c.308A>T (p.Gln103Leu)
n.755A>T
c.224A>T (p.Gln75Leu)
n.748A>T
n.708A>T
1g.244863784T>CCA345496707HNRNPUc.202A>G
c.524A>G (p.Gln175Arg)
n.709A>G
c.308A>G (p.Gln103Arg)
n.755A>G
c.224A>G (p.Gln75Arg)
n.748A>G
n.708A>G
 ClinVar gnomAD v4
1g.244863784T>GCA345496711HNRNPUc.202A>C
c.524A>C (p.Gln175Pro)
n.709A>C
c.308A>C (p.Gln103Pro)
n.755A>C
c.224A>C (p.Gln75Pro)
n.748A>C
n.708A>C
1g.244863785G>ACA345496713HNRNPUc.201C>T
c.523C>T (p.Gln175Ter)
n.708C>T
c.307C>T (p.Gln103Ter)
n.754C>T
c.223C>T (p.Gln75Ter)
n.747C>T
n.707C>T
1g.244863785G>CCA1486785HNRNPUc.201C>G
c.523C>G (p.Gln175Glu)
n.708C>G
c.307C>G (p.Gln103Glu)
n.754C>G
c.223C>G (p.Gln75Glu)
n.747C>G
n.707C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863785G=CA1231007437HNRNPUc.201C=
c.523C= (p.Gln175=)
n.708C=
c.307C= (p.Gln103=)
n.754C=
c.223C= (p.Gln75=)
n.747C=
n.707C=
1g.244863785G>TCA345496715HNRNPUc.201C>A
c.523C>A (p.Gln175Lys)
n.708C>A
c.307C>A (p.Gln103Lys)
n.754C>A
c.223C>A (p.Gln75Lys)
n.747C>A
n.707C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.244863786T>ACA345496716HNRNPUc.200A>T
c.522A>T (p.Gln174His)
n.707A>T
c.306A>T (p.Gln102His)
n.753A>T
c.222A>T (p.Gln74His)
n.746A>T
n.706A>T
1g.244863786T>CCA1486786HNRNPUc.200A>G
c.522A>G (p.Gln174=)
n.707A>G
c.306A>G (p.Gln102=)
n.753A>G
c.222A>G (p.Gln74=)
n.746A>G
n.706A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863786T>GCA345496718HNRNPUc.200A>C
c.522A>C (p.Gln174His)
n.707A>C
c.306A>C (p.Gln102His)
n.753A>C
c.222A>C (p.Gln74His)
n.746A>C
n.706A>C
1g.244863786T=CA1231007438HNRNPUc.200A=
c.522A= (p.Gln174=)
n.707A=
c.306A= (p.Gln102=)
n.753A=
c.222A= (p.Gln74=)
n.746A=
n.706A=
1g.244863787T>ACA345496721HNRNPUc.199A>T
c.521A>T (p.Gln174Leu)
n.706A>T
c.305A>T (p.Gln102Leu)
n.752A>T
c.221A>T (p.Gln74Leu)
n.745A>T
n.705A>T
1g.244863787T>CCA345496723HNRNPUc.199A>G
c.521A>G (p.Gln174Arg)
n.706A>G
c.305A>G (p.Gln102Arg)
n.752A>G
c.221A>G (p.Gln74Arg)
n.745A>G
n.705A>G
 ClinVar dbSNP gnomAD v4
1g.244863787T>GCA345496725HNRNPUc.199A>C
c.521A>C (p.Gln174Pro)
n.706A>C
c.305A>C (p.Gln102Pro)
n.752A>C
c.221A>C (p.Gln74Pro)
n.745A>C
n.705A>C
1g.244863787T=CA1231007439HNRNPUc.199A=
c.521A= (p.Gln174=)
n.706A=
c.305A= (p.Gln102=)
n.752A=
c.221A= (p.Gln74=)
n.745A=
n.705A=
1g.244863788G>ACA10602784HNRNPUc.198C>T
c.520C>T (p.Gln174Ter)
n.705C>T
c.304C>T (p.Gln102Ter)
n.751C>T
c.220C>T (p.Gln74Ter)
n.744C>T
n.704C>T
 ClinVar dbSNP
1g.244863788G>CCA345496728HNRNPUc.198C>G
c.520C>G (p.Gln174Glu)
n.705C>G
c.304C>G (p.Gln102Glu)
n.751C>G
c.220C>G (p.Gln74Glu)
n.744C>G
n.704C>G
1g.244863788G=CA1231007440HNRNPUc.198C=
c.520C= (p.Gln174=)
n.705C=
c.304C= (p.Gln102=)
n.751C=
c.220C= (p.Gln74=)
n.744C=
n.704C=
1g.244863788G>TCA345496731HNRNPUc.198C>A
c.520C>A (p.Gln174Lys)
n.705C>A
c.304C>A (p.Gln102Lys)
n.751C>A
c.220C>A (p.Gln74Lys)
n.744C>A
n.704C>A
1g.244863791delCA2573132982HNRNPUc.198del
c.520del (p.Gln174AsnfsTer23)
n.705del
c.304del (p.Gln102AsnfsTer23)
n.751del
c.220del (p.Gln74AsnfsTer23)
n.744del
n.704del
 ClinVar dbSNP
1g.244863789G>ACA424402622HNRNPUc.197C>T
c.519C>T (p.Pro173=)
n.704C>T
c.303C>T (p.Pro101=)
n.750C>T
c.219C>T (p.Pro73=)
n.743C>T
n.703C>T
 dbSNP gnomAD v3 gnomAD v4
1g.244863789G>CCA424402623HNRNPUc.197C>G
c.519C>G (p.Pro173=)
n.704C>G
c.303C>G (p.Pro101=)
n.750C>G
c.219C>G (p.Pro73=)
n.743C>G
n.703C>G
 ClinVar dbSNP gnomAD v4
1g.244863789G=CA1231007441HNRNPUc.197C=
c.519C= (p.Pro173=)
n.704C=
c.303C= (p.Pro101=)
n.750C=
c.219C= (p.Pro73=)
n.743C=
n.703C=
1g.244863789G>TCA424402624HNRNPUc.197C>A
c.519C>A (p.Pro173=)
n.704C>A
c.303C>A (p.Pro101=)
n.750C>A
c.219C>A (p.Pro73=)
n.743C>A
n.703C>A

Number of alleles fetched