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.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
1g.244863916T>ACA345497224HNRNPUc.70A>T
c.392A>T (p.Glu131Val)
n.577A>T
c.176A>T (p.Glu59Val)
n.623A>T
c.92A>T (p.Glu31Val)
n.616A>T
n.576A>T
1g.244863916T>CCA345497225HNRNPUc.70A>G
c.392A>G (p.Glu131Gly)
n.577A>G
c.176A>G (p.Glu59Gly)
n.623A>G
c.92A>G (p.Glu31Gly)
n.616A>G
n.576A>G
1g.244863916T>GCA345497226HNRNPUc.70A>C
c.392A>C (p.Glu131Ala)
n.577A>C
c.176A>C (p.Glu59Ala)
n.623A>C
c.92A>C (p.Glu31Ala)
n.616A>C
n.576A>C
1g.244863917C>ACA345497229HNRNPUc.69G>T
c.391G>T (p.Glu131Ter)
n.576G>T
c.175G>T (p.Glu59Ter)
n.622G>T
c.91G>T (p.Glu31Ter)
n.615G>T
n.575G>T
 COSMIC
1g.244863917C=CA1231007505HNRNPUc.69G=
c.391G= (p.Glu131=)
n.576G=
c.175G= (p.Glu59=)
n.622G=
c.91G= (p.Glu31=)
n.615G=
n.575G=
1g.244863917C>GCA345497228HNRNPUc.69G>C
c.391G>C (p.Glu131Gln)
n.576G>C
c.175G>C (p.Glu59Gln)
n.622G>C
c.91G>C (p.Glu31Gln)
n.615G>C
n.575G>C
 dbSNP gnomAD v2 gnomAD v4
1g.244863917C>TCA345497227HNRNPUc.69G>A
c.391G>A (p.Glu131Lys)
n.576G>A
c.175G>A (p.Glu59Lys)
n.622G>A
c.91G>A (p.Glu31Lys)
n.615G>A
n.575G>A
 dbSNP gnomAD v2 gnomAD v4
1g.244863918G>ACA1486807HNRNPUc.68C>T
c.390C>T (p.Asp130=)
n.575C>T
c.174C>T (p.Asp58=)
n.621C>T
c.90C>T (p.Asp30=)
n.614C>T
n.574C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863918G>CCA345497230HNRNPUc.68C>G
c.390C>G (p.Asp130Glu)
n.575C>G
c.174C>G (p.Asp58Glu)
n.621C>G
c.90C>G (p.Asp30Glu)
n.614C>G
n.574C>G
1g.244863918G=CA1143437944HNRNPUc.68C=
c.390C= (p.Asp130=)
n.575C=
c.174C= (p.Asp58=)
n.621C=
c.90C= (p.Asp30=)
n.614C=
n.574C=
1g.244863918G>TCA345497231HNRNPUc.68C>A
c.390C>A (p.Asp130Glu)
n.575C>A
c.174C>A (p.Asp58Glu)
n.621C>A
c.90C>A (p.Asp30Glu)
n.614C>A
n.574C>A
1g.244863919T>ACA345497232HNRNPUc.67A>T
c.389A>T (p.Asp130Val)
n.574A>T
c.173A>T (p.Asp58Val)
n.620A>T
c.89A>T (p.Asp30Val)
n.613A>T
n.573A>T
1g.244863919T>CCA1486808HNRNPUc.67A>G
c.389A>G (p.Asp130Gly)
n.574A>G
c.173A>G (p.Asp58Gly)
n.620A>G
c.89A>G (p.Asp30Gly)
n.613A>G
n.573A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863919T>GCA345497233HNRNPUc.67A>C
c.389A>C (p.Asp130Ala)
n.574A>C
c.173A>C (p.Asp58Ala)
n.620A>C
c.89A>C (p.Asp30Ala)
n.613A>C
n.573A>C
1g.244863919T=CA1231007506HNRNPUc.67A=
c.389A= (p.Asp130=)
n.574A=
c.173A= (p.Asp58=)
n.620A=
c.89A= (p.Asp30=)
n.613A=
n.573A=
1g.244863920C>ACA345497234HNRNPUc.66G>T
c.388G>T (p.Asp130Tyr)
n.573G>T
c.172G>T (p.Asp58Tyr)
n.619G>T
c.88G>T (p.Asp30Tyr)
n.612G>T
n.572G>T
1g.244863920C=CA1231007507HNRNPUc.66G=
c.388G= (p.Asp130=)
n.573G=
c.172G= (p.Asp58=)
n.619G=
c.88G= (p.Asp30=)
n.612G=
n.572G=
1g.244863920C>GCA345497235HNRNPUc.66G>C
c.388G>C (p.Asp130His)
n.573G>C
c.172G>C (p.Asp58His)
n.619G>C
c.88G>C (p.Asp30His)
n.612G>C
n.572G>C
1g.244863920C>TCA345497236HNRNPUc.66G>A
c.388G>A (p.Asp130Asn)
n.573G>A
c.172G>A (p.Asp58Asn)
n.619G>A
c.88G>A (p.Asp30Asn)
n.612G>A
n.572G>A
 dbSNP gnomAD v2 gnomAD v4
1g.244863921T>ACA345497237HNRNPUc.65A>T
c.387A>T (p.Glu129Asp)
n.572A>T
c.171A>T (p.Glu57Asp)
n.618A>T
c.87A>T (p.Glu29Asp)
n.611A>T
n.571A>T
1g.244863921T>CCA424403284HNRNPUc.65A>G
c.387A>G (p.Glu129=)
n.572A>G
c.171A>G (p.Glu57=)
n.618A>G
c.87A>G (p.Glu29=)
n.611A>G
n.571A>G
1g.244863921T>GCA345497238HNRNPUc.65A>C
c.387A>C (p.Glu129Asp)
n.572A>C
c.171A>C (p.Glu57Asp)
n.618A>C
c.87A>C (p.Glu29Asp)
n.611A>C
n.571A>C
1g.244863922T>ACA345497239HNRNPUc.64A>T
c.386A>T (p.Glu129Val)
n.571A>T
c.170A>T (p.Glu57Val)
n.617A>T
c.86A>T (p.Glu29Val)
n.610A>T
n.570A>T
1g.244863922T>CCA345497240HNRNPUc.64A>G
c.386A>G (p.Glu129Gly)
n.571A>G
c.170A>G (p.Glu57Gly)
n.617A>G
c.86A>G (p.Glu29Gly)
n.610A>G
n.570A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.244863922T>GCA345497241HNRNPUc.64A>C
c.386A>C (p.Glu129Ala)
n.571A>C
c.170A>C (p.Glu57Ala)
n.617A>C
c.86A>C (p.Glu29Ala)
n.610A>C
n.570A>C
1g.244863922T=CA1231007508HNRNPUc.64A=
c.386A= (p.Glu129=)
n.571A=
c.170A= (p.Glu57=)
n.617A=
c.86A= (p.Glu29=)
n.610A=
n.570A=
1g.244863923C>ACA345497243HNRNPUc.63G>T
c.385G>T (p.Glu129Ter)
n.570G>T
c.169G>T (p.Glu57Ter)
n.616G>T
c.85G>T (p.Glu29Ter)
n.609G>T
n.569G>T
1g.244863923C>GCA345497244HNRNPUc.63G>C
c.385G>C (p.Glu129Gln)
n.570G>C
c.169G>C (p.Glu57Gln)
n.616G>C
c.85G>C (p.Glu29Gln)
n.609G>C
n.569G>C
1g.244863923C>TCA345497242HNRNPUc.63G>A
c.385G>A (p.Glu129Lys)
n.570G>A
c.169G>A (p.Glu57Lys)
n.616G>A
c.85G>A (p.Glu29Lys)
n.609G>A
n.569G>A
1g.244863924C>ACA424403291HNRNPUc.62G>T
c.384G>T (p.Ser128=)
n.569G>T
c.168G>T (p.Ser56=)
n.615G>T
c.84G>T (p.Ser28=)
n.608G>T
n.568G>T
1g.244863924C>GCA424403293HNRNPUc.62G>C
c.384G>C (p.Ser128=)
n.569G>C
c.168G>C (p.Ser56=)
n.615G>C
c.84G>C (p.Ser28=)
n.608G>C
n.568G>C
1g.244863924C>TCA424403294HNRNPUc.62G>A
c.384G>A (p.Ser128=)
n.569G>A
c.168G>A (p.Ser56=)
n.615G>A
c.84G>A (p.Ser28=)
n.608G>A
n.568G>A
 ClinVar dbSNP
1g.244863925G>ACA345497245HNRNPUc.61C>T
c.383C>T (p.Ser128Leu)
n.568C>T
c.167C>T (p.Ser56Leu)
n.614C>T
c.83C>T (p.Ser28Leu)
n.607C>T
n.567C>T
1g.244863925G>CCA345497246HNRNPUc.61C>G
c.383C>G (p.Ser128Trp)
n.568C>G
c.167C>G (p.Ser56Trp)
n.614C>G
c.83C>G (p.Ser28Trp)
n.607C>G
n.567C>G
1g.244863925G>TCA345497247HNRNPUc.61C>A
c.383C>A (p.Ser128Ter)
n.568C>A
c.167C>A (p.Ser56Ter)
n.614C>A
c.83C>A (p.Ser28Ter)
n.607C>A
n.567C>A
1g.244863926A>CCA345497248HNRNPUc.60T>G
c.382T>G (p.Ser128Ala)
n.567T>G
c.166T>G (p.Ser56Ala)
n.613T>G
c.82T>G (p.Ser28Ala)
n.606T>G
n.566T>G
1g.244863926A>GCA345497249HNRNPUc.60T>C
c.382T>C (p.Ser128Pro)
n.567T>C
c.166T>C (p.Ser56Pro)
n.613T>C
c.82T>C (p.Ser28Pro)
n.606T>C
n.566T>C
1g.244863926A>TCA345497250HNRNPUc.60T>A
c.382T>A (p.Ser128Thr)
n.567T>A
c.166T>A (p.Ser56Thr)
n.613T>A
c.82T>A (p.Ser28Thr)
n.606T>A
n.566T>A
1g.244863927G>ACA40505188HNRNPUc.59C>T
c.381C>T (p.Ala127=)
n.566C>T
c.165C>T (p.Ala55=)
n.612C>T
c.81C>T (p.Ala27=)
n.605C>T
n.565C>T
 dbSNP
1g.244863927G>CCA424403308HNRNPUc.59C>G
c.381C>G (p.Ala127=)
n.566C>G
c.165C>G (p.Ala55=)
n.612C>G
c.81C>G (p.Ala27=)
n.605C>G
n.565C>G
1g.244863927G=CA1231007509HNRNPUc.59C=
c.381C= (p.Ala127=)
n.566C=
c.165C= (p.Ala55=)
n.612C=
c.81C= (p.Ala27=)
n.605C=
n.565C=
1g.244863927G>TCA424403315HNRNPUc.59C>A
c.381C>A (p.Ala127=)
n.566C>A
c.165C>A (p.Ala55=)
n.612C>A
c.81C>A (p.Ala27=)
n.605C>A
n.565C>A
1g.244863928G>ACA1486809HNRNPUc.58C>T
c.380C>T (p.Ala127Val)
n.565C>T
c.164C>T (p.Ala55Val)
n.611C>T
c.80C>T (p.Ala27Val)
n.604C>T
n.564C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863928G>CCA345497251HNRNPUc.58C>G
c.380C>G (p.Ala127Gly)
n.565C>G
c.164C>G (p.Ala55Gly)
n.611C>G
c.80C>G (p.Ala27Gly)
n.604C>G
n.564C>G
1g.244863928G=CA1231007510HNRNPUc.58C=
c.380C= (p.Ala127=)
n.565C=
c.164C= (p.Ala55=)
n.611C=
c.80C= (p.Ala27=)
n.604C=
n.564C=
1g.244863928G>TCA345497252HNRNPUc.58C>A
c.380C>A (p.Ala127Asp)
n.565C>A
c.164C>A (p.Ala55Asp)
n.611C>A
c.80C>A (p.Ala27Asp)
n.604C>A
n.564C>A
1g.244863929C>ACA345497253HNRNPUc.57G>T
c.379G>T (p.Ala127Ser)
n.564G>T
c.163G>T (p.Ala55Ser)
n.610G>T
c.79G>T (p.Ala27Ser)
n.603G>T
n.563G>T
1g.244863929C>GCA345497254HNRNPUc.57G>C
c.379G>C (p.Ala127Pro)
n.564G>C
c.163G>C (p.Ala55Pro)
n.610G>C
c.79G>C (p.Ala27Pro)
n.603G>C
n.563G>C
1g.244863929C>TCA345497255HNRNPUc.57G>A
c.379G>A (p.Ala127Thr)
n.564G>A
c.163G>A (p.Ala55Thr)
n.610G>A
c.79G>A (p.Ala27Thr)
n.603G>A
n.563G>A
1g.244863934_244863963dupCA2651343513HNRNPUc.28_57dup
c.350_379dup (p.Ala126_Ala127insAspSerGlyProMetGluGluGluGluAla)
n.535_564dup
c.134_163dup (p.Ala54_Ala55insAspSerGlyProMetGluGluGluGluAla)
n.581_610dup
c.50_79dup (p.Ala26_Ala27insAspSerGlyProMetGluGluGluGluAla)
n.574_603dup
n.534_563dup
 gnomAD v4
1g.244863930G>ACA424403326HNRNPUc.56C>T
c.378C>T (p.Ala126=)
n.563C>T
c.162C>T (p.Ala54=)
n.609C>T
c.78C>T (p.Ala26=)
n.602C>T
n.562C>T
 ClinVar
1g.244863930G>CCA424403328HNRNPUc.56C>G
c.378C>G (p.Ala126=)
n.563C>G
c.162C>G (p.Ala54=)
n.609C>G
c.78C>G (p.Ala26=)
n.602C>G
n.562C>G
1g.244863930G>TCA424403330HNRNPUc.56C>A
c.378C>A (p.Ala126=)
n.563C>A
c.162C>A (p.Ala54=)
n.609C>A
c.78C>A (p.Ala26=)
n.602C>A
n.562C>A
1g.244863931G>ACA345497258HNRNPUc.55C>T
c.377C>T (p.Ala126Val)
n.562C>T
c.161C>T (p.Ala54Val)
n.608C>T
c.77C>T (p.Ala26Val)
n.601C>T
n.561C>T
 dbSNP gnomAD v3 gnomAD v4
1g.244863931G>CCA345497256HNRNPUc.55C>G
c.377C>G (p.Ala126Gly)
n.562C>G
c.161C>G (p.Ala54Gly)
n.608C>G
c.77C>G (p.Ala26Gly)
n.601C>G
n.561C>G
1g.244863931G=CA1231007512HNRNPUc.55C=
c.377C= (p.Ala126=)
n.562C=
c.161C= (p.Ala54=)
n.608C=
c.77C= (p.Ala26=)
n.601C=
n.561C=
1g.244863931G>TCA345497257HNRNPUc.55C>A
c.377C>A (p.Ala126Asp)
n.562C>A
c.161C>A (p.Ala54Asp)
n.608C>A
c.77C>A (p.Ala26Asp)
n.601C>A
n.561C>A
1g.244863931_244863933dupCA2574464055HNRNPUc.53_55dup
c.375_377dup (p.Ala126_Ala127insAla)
n.560_562dup
c.159_161dup (p.Ala54_Ala55insAla)
n.606_608dup
c.75_77dup (p.Ala26_Ala27insAla)
n.599_601dup
n.559_561dup
1g.244863931_244863934delinsGCCTCA1231007511HNRNPUc.52_55delinsAGGC
c.374_377delinsAGGC (p.Glu125=)
n.559_562delinsAGGC
c.158_161delinsAGGC (p.Glu53=)
n.605_608delinsAGGC
c.74_77delinsAGGC (p.Glu25=)
n.598_601delinsAGGC
n.558_561delinsAGGC
1g.244863932C>ACA345497259HNRNPUc.54G>T
c.376G>T (p.Ala126Ser)
n.561G>T
c.160G>T (p.Ala54Ser)
n.607G>T
c.76G>T (p.Ala26Ser)
n.600G>T
n.560G>T
1g.244863932C>GCA345497260HNRNPUc.54G>C
c.376G>C (p.Ala126Pro)
n.561G>C
c.160G>C (p.Ala54Pro)
n.607G>C
c.76G>C (p.Ala26Pro)
n.600G>C
n.560G>C
 ClinVar
1g.244863932C>TCA345497261HNRNPUc.54G>A
c.376G>A (p.Ala126Thr)
n.561G>A
c.160G>A (p.Ala54Thr)
n.607G>A
c.76G>A (p.Ala26Thr)
n.600G>A
n.560G>A
1g.244863932_244863945delinsCCTCCTCCTCCTCCCA1148437400HNRNPUc.41_54delinsGGAGGAGGAGGAGG
c.363_376delinsGGAGGAGGAGGAGG (p.Met121=)
n.548_561delinsGGAGGAGGAGGAGG
c.147_160delinsGGAGGAGGAGGAGG (p.Met49=)
n.594_607delinsGGAGGAGGAGGAGG
c.63_76delinsGGAGGAGGAGGAGG (p.Met21=)
n.587_600delinsGGAGGAGGAGGAGG
n.547_560delinsGGAGGAGGAGGAGG
1g.244863943_244863945dupCA1486811HNRNPUc.52_54dup
c.374_376dup (p.Glu125_Ala126insGlu)
n.559_561dup
c.158_160dup (p.Glu53_Ala54insGlu)
n.605_607dup
c.74_76dup (p.Glu25_Ala26insGlu)
n.598_600dup
n.558_560dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863940_244863945dupCA1014270480HNRNPUc.49_54dup
c.371_376dup (p.Glu125_Ala126insGluGlu)
n.556_561dup
c.155_160dup (p.Glu53_Ala54insGluGlu)
n.602_607dup
c.71_76dup (p.Glu25_Ala26insGluGlu)
n.595_600dup
n.555_560dup
 dbSNP gnomAD v3 gnomAD v4
1g.244863943_244863945delCA1486810HNRNPUc.52_54del
c.374_376del (p.Glu125del)
n.559_561del
c.158_160del (p.Glu53del)
n.605_607del
c.74_76del (p.Glu25del)
n.598_600del
n.558_560del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863933C>ACA345497262HNRNPUc.53G>T
c.375G>T (p.Glu125Asp)
n.560G>T
c.159G>T (p.Glu53Asp)
n.606G>T
c.75G>T (p.Glu25Asp)
n.599G>T
n.559G>T
1g.244863933C=CA1231007514HNRNPUc.53G=
c.375G= (p.Glu125=)
n.560G=
c.159G= (p.Glu53=)
n.606G=
c.75G= (p.Glu25=)
n.599G=
n.559G=
1g.244863933C>GCA1486813HNRNPUc.53G>C
c.375G>C (p.Glu125Asp)
n.560G>C
c.159G>C (p.Glu53Asp)
n.606G>C
c.75G>C (p.Glu25Asp)
n.599G>C
n.559G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863933C>TCA1486812HNRNPUc.53G>A
c.375G>A (p.Glu125=)
n.560G>A
c.159G>A (p.Glu53=)
n.606G>A
c.75G>A (p.Glu25=)
n.599G>A
n.559G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863933_244863934delinsCTCA1231007513HNRNPUc.52_53delinsAG
c.374_375delinsAG (p.Glu125=)
n.559_560delinsAG
c.158_159delinsAG (p.Glu53=)
n.605_606delinsAG
c.74_75delinsAG (p.Glu25=)
n.598_599delinsAG
n.558_559delinsAG
1g.244863933_244863934delinsGGCA916082166HNRNPUc.52_53delinsCC
c.374_375delinsCC (p.Glu125Ala)
n.559_560delinsCC
c.158_159delinsCC (p.Glu53Ala)
n.605_606delinsCC
c.74_75delinsCC (p.Glu25Ala)
n.598_599delinsCC
n.558_559delinsCC
 ClinVar dbSNP
1g.244863934T>ACA345497263HNRNPUc.52A>T
c.374A>T (p.Glu125Val)
n.559A>T
c.158A>T (p.Glu53Val)
n.605A>T
c.74A>T (p.Glu25Val)
n.598A>T
n.558A>T
1g.244863934T>CCA345497264HNRNPUc.52A>G
c.374A>G (p.Glu125Gly)
n.559A>G
c.158A>G (p.Glu53Gly)
n.605A>G
c.74A>G (p.Glu25Gly)
n.598A>G
n.558A>G
1g.244863934T>GCA1486814HNRNPUc.52A>C
c.374A>C (p.Glu125Ala)
n.559A>C
c.158A>C (p.Glu53Ala)
n.605A>C
c.74A>C (p.Glu25Ala)
n.598A>C
n.558A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863934T=CA1143373646HNRNPUc.52A=
c.374A= (p.Glu125=)
n.559A=
c.158A= (p.Glu53=)
n.605A=
c.74A= (p.Glu25=)
n.598A=
n.558A=
1g.244863935C>ACA345497265HNRNPUc.51G>T
c.373G>T (p.Glu125Ter)
n.558G>T
c.157G>T (p.Glu53Ter)
n.604G>T
c.73G>T (p.Glu25Ter)
n.597G>T
n.557G>T
1g.244863935C>GCA345497267HNRNPUc.51G>C
c.373G>C (p.Glu125Gln)
n.558G>C
c.157G>C (p.Glu53Gln)
n.604G>C
c.73G>C (p.Glu25Gln)
n.597G>C
n.557G>C
1g.244863935C>TCA345497266HNRNPUc.51G>A
c.373G>A (p.Glu125Lys)
n.558G>A
c.157G>A (p.Glu53Lys)
n.604G>A
c.73G>A (p.Glu25Lys)
n.597G>A
n.557G>A
1g.244863936C>ACA345497268HNRNPUc.50G>T
c.372G>T (p.Glu124Asp)
n.557G>T
c.156G>T (p.Glu52Asp)
n.603G>T
c.72G>T (p.Glu24Asp)
n.596G>T
n.556G>T
1g.244863936C>GCA345497269HNRNPUc.50G>C
c.372G>C (p.Glu124Asp)
n.557G>C
c.156G>C (p.Glu52Asp)
n.603G>C
c.72G>C (p.Glu24Asp)
n.596G>C
n.556G>C
1g.244863936C>TCA424403350HNRNPUc.50G>A
c.372G>A (p.Glu124=)
n.557G>A
c.156G>A (p.Glu52=)
n.603G>A
c.72G>A (p.Glu24=)
n.596G>A
n.556G>A
1g.244863937T>ACA345497270HNRNPUc.49A>T
c.371A>T (p.Glu124Val)
n.556A>T
c.155A>T (p.Glu52Val)
n.602A>T
c.71A>T (p.Glu24Val)
n.595A>T
n.555A>T
1g.244863937T>CCA345497272HNRNPUc.49A>G
c.371A>G (p.Glu124Gly)
n.556A>G
c.155A>G (p.Glu52Gly)
n.602A>G
c.71A>G (p.Glu24Gly)
n.595A>G
n.555A>G
1g.244863937T>GCA345497271HNRNPUc.49A>C
c.371A>C (p.Glu124Ala)
n.556A>C
c.155A>C (p.Glu52Ala)
n.602A>C
c.71A>C (p.Glu24Ala)
n.595A>C
n.555A>C
1g.244863938C>ACA345497273HNRNPUc.48G>T
c.370G>T (p.Glu124Ter)
n.555G>T
c.154G>T (p.Glu52Ter)
n.601G>T
c.70G>T (p.Glu24Ter)
n.594G>T
n.554G>T
1g.244863938C=CA1231007516HNRNPUc.48G=
c.370G= (p.Glu124=)
n.555G=
c.154G= (p.Glu52=)
n.601G=
c.70G= (p.Glu24=)
n.594G=
n.554G=
1g.244863938C>GCA345497274HNRNPUc.48G>C
c.370G>C (p.Glu124Gln)
n.555G>C
c.154G>C (p.Glu52Gln)
n.601G>C
c.70G>C (p.Glu24Gln)
n.594G>C
n.554G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244863938C>TCA345497275HNRNPUc.48G>A
c.370G>A (p.Glu124Lys)
n.555G>A
c.154G>A (p.Glu52Lys)
n.601G>A
c.70G>A (p.Glu24Lys)
n.594G>A
n.554G>A
1g.244863938_244863980delinsCCTCCTCCATCGGGCCCGAGTCGGCCGCCCCCGCGGCCCCGTTCA1231007515HNRNPUc.6_48delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG
c.328_370delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG (p.Asn110=)
n.513_555delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG
c.112_154delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG (p.Asn38=)
n.559_601delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG
c.28_70delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG (p.Asn10=)
n.552_594delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG
n.512_554delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG
1g.244863939C>ACA345497276HNRNPUc.47G>T
c.369G>T (p.Glu123Asp)
n.554G>T
c.153G>T (p.Glu51Asp)
n.600G>T
c.69G>T (p.Glu23Asp)
n.593G>T
n.553G>T
 gnomAD v4
1g.244863939C=CA1231007517HNRNPUc.47G=
c.369G= (p.Glu123=)
n.554G=
c.153G= (p.Glu51=)
n.600G=
c.69G= (p.Glu23=)
n.593G=
n.553G=
1g.244863939C>GCA1486816HNRNPUc.47G>C
c.369G>C (p.Glu123Asp)
n.554G>C
c.153G>C (p.Glu51Asp)
n.600G>C
c.69G>C (p.Glu23Asp)
n.593G>C
n.553G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863939C>TCA424403359HNRNPUc.47G>A
c.369G>A (p.Glu123=)
n.554G>A
c.153G>A (p.Glu51=)
n.600G>A
c.69G>A (p.Glu23=)
n.593G>A
n.553G>A
 COSMIC COSMIC
1g.244863945_244863986delCA1486815HNRNPUc.328_369del (p.Asn110_Glu123del)
n.513_554del
c.112_153del (p.Asn38_Glu51del)
n.559_600del
c.28_69del (p.Asn10_Glu23del)
n.552_593del
n.512_553del
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863940T>ACA345497277HNRNPUc.46A>T
c.368A>T (p.Glu123Val)
n.553A>T
c.152A>T (p.Glu51Val)
n.599A>T
c.68A>T (p.Glu23Val)
n.592A>T
n.552A>T
1g.244863940T>CCA345497278HNRNPUc.46A>G
c.368A>G (p.Glu123Gly)
n.553A>G
c.152A>G (p.Glu51Gly)
n.599A>G
c.68A>G (p.Glu23Gly)
n.592A>G
n.552A>G
 dbSNP
1g.244863940T>GCA345497279HNRNPUc.46A>C
c.368A>C (p.Glu123Ala)
n.553A>C
c.152A>C (p.Glu51Ala)
n.599A>C
c.68A>C (p.Glu23Ala)
n.592A>C
n.552A>C
1g.244863941C>ACA345497280HNRNPUc.45G>T
c.367G>T (p.Glu123Ter)
n.552G>T
c.151G>T (p.Glu51Ter)
n.598G>T
c.67G>T (p.Glu23Ter)
n.591G>T
n.551G>T
1g.244863941C>GCA345497281HNRNPUc.45G>C
c.367G>C (p.Glu123Gln)
n.552G>C
c.151G>C (p.Glu51Gln)
n.598G>C
c.67G>C (p.Glu23Gln)
n.591G>C
n.551G>C
1g.244863941C>TCA345497282HNRNPUc.45G>A
c.367G>A (p.Glu123Lys)
n.552G>A
c.151G>A (p.Glu51Lys)
n.598G>A
c.67G>A (p.Glu23Lys)
n.591G>A
n.551G>A
1g.244863942C>ACA345497283HNRNPUc.44G>T
c.366G>T (p.Glu122Asp)
n.551G>T
c.150G>T (p.Glu50Asp)
n.597G>T
c.66G>T (p.Glu22Asp)
n.590G>T
n.550G>T
1g.244863942C>GCA345497284HNRNPUc.44G>C
c.366G>C (p.Glu122Asp)
n.551G>C
c.150G>C (p.Glu50Asp)
n.597G>C
c.66G>C (p.Glu22Asp)
n.590G>C
n.550G>C
1g.244863942C>TCA424403369HNRNPUc.44G>A
c.366G>A (p.Glu122=)
n.551G>A
c.150G>A (p.Glu50=)
n.597G>A
c.66G>A (p.Glu22=)
n.590G>A
n.550G>A
1g.244863943T>ACA345497285HNRNPUc.43A>T
c.365A>T (p.Glu122Val)
n.550A>T
c.149A>T (p.Glu50Val)
n.596A>T
c.65A>T (p.Glu22Val)
n.589A>T
n.549A>T
1g.244863943T>CCA345497286HNRNPUc.43A>G
c.365A>G (p.Glu122Gly)
n.550A>G
c.149A>G (p.Glu50Gly)
n.596A>G
c.65A>G (p.Glu22Gly)
n.589A>G
n.549A>G
 dbSNP gnomAD v3 gnomAD v4
1g.244863943T>GCA345497287HNRNPUc.43A>C
c.365A>C (p.Glu122Ala)
n.550A>C
c.149A>C (p.Glu50Ala)
n.596A>C
c.65A>C (p.Glu22Ala)
n.589A>C
n.549A>C
1g.244863943T=CA1231007518HNRNPUc.43A=
c.365A= (p.Glu122=)
n.550A=
c.149A= (p.Glu50=)
n.596A=
c.65A= (p.Glu22=)
n.589A=
n.549A=
1g.244863944C>ACA345497288HNRNPUc.42G>T
c.364G>T (p.Glu122Ter)
n.549G>T
c.148G>T (p.Glu50Ter)
n.595G>T
c.64G>T (p.Glu22Ter)
n.588G>T
n.548G>T
1g.244863944C=CA1231007519HNRNPUc.42G=
c.364G= (p.Glu122=)
n.549G=
c.148G= (p.Glu50=)
n.595G=
c.64G= (p.Glu22=)
n.588G=
n.548G=
1g.244863944C>GCA345497289HNRNPUc.42G>C
c.364G>C (p.Glu122Gln)
n.549G>C
c.148G>C (p.Glu50Gln)
n.595G>C
c.64G>C (p.Glu22Gln)
n.588G>C
n.548G>C
 dbSNP
1g.244863944C>TCA345497290HNRNPUc.42G>A
c.364G>A (p.Glu122Lys)
n.549G>A
c.148G>A (p.Glu50Lys)
n.595G>A
c.64G>A (p.Glu22Lys)
n.588G>A
n.548G>A
1g.244863945C>ACA345497291HNRNPUc.41G>T
c.363G>T (p.Met121Ile)
n.548G>T
c.147G>T (p.Met49Ile)
n.594G>T
c.63G>T (p.Met21Ile)
n.587G>T
n.547G>T
1g.244863945C>GCA345497292HNRNPUc.41G>C
c.363G>C (p.Met121Ile)
n.548G>C
c.147G>C (p.Met49Ile)
n.594G>C
c.63G>C (p.Met21Ile)
n.587G>C
n.547G>C
1g.244863945C>TCA345497293HNRNPUc.41G>A
c.363G>A (p.Met121Ile)
n.548G>A
c.147G>A (p.Met49Ile)
n.594G>A
c.63G>A (p.Met21Ile)
n.587G>A
n.547G>A
1g.244863946A>CCA345497294HNRNPUc.40T>G
c.362T>G (p.Met121Arg)
n.547T>G
c.146T>G (p.Met49Arg)
n.593T>G
c.62T>G (p.Met21Arg)
n.586T>G
n.546T>G
 gnomAD v4
1g.244863946A>GCA345497295HNRNPUc.40T>C
c.362T>C (p.Met121Thr)
n.547T>C
c.146T>C (p.Met49Thr)
n.593T>C
c.62T>C (p.Met21Thr)
n.586T>C
n.546T>C
 gnomAD v4
1g.244863946A>TCA345497296HNRNPUc.40T>A
c.362T>A (p.Met121Lys)
n.547T>A
c.146T>A (p.Met49Lys)
n.593T>A
c.62T>A (p.Met21Lys)
n.586T>A
n.546T>A
1g.244863947T>ACA345497297HNRNPUc.39A>T
c.361A>T (p.Met121Leu)
n.546A>T
c.145A>T (p.Met49Leu)
n.592A>T
c.61A>T (p.Met21Leu)
n.585A>T
n.545A>T
 dbSNP gnomAD v4
1g.244863947T>CCA345497299HNRNPUc.39A>G
c.361A>G (p.Met121Val)
n.546A>G
c.145A>G (p.Met49Val)
n.592A>G
c.61A>G (p.Met21Val)
n.585A>G
n.545A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.244863947T>GCA345497298HNRNPUc.39A>C
c.361A>C (p.Met121Leu)
n.546A>C
c.145A>C (p.Met49Leu)
n.592A>C
c.61A>C (p.Met21Leu)
n.585A>C
n.545A>C
1g.244863947T=CA1231007520HNRNPUc.39A=
c.361A= (p.Met121=)
n.546A=
c.145A= (p.Met49=)
n.592A=
c.61A= (p.Met21=)
n.585A=
n.545A=
1g.244863948C>ACA424403389HNRNPUc.38G>T
c.360G>T (p.Pro120=)
n.545G>T
c.144G>T (p.Pro48=)
n.591G>T
c.60G>T (p.Pro20=)
n.584G>T
n.544G>T
 dbSNP gnomAD v3 gnomAD v4
1g.244863948C=CA1231007521HNRNPUc.38G=
c.360G= (p.Pro120=)
n.545G=
c.144G= (p.Pro48=)
n.591G=
c.60G= (p.Pro20=)
n.584G=
n.544G=
1g.244863948C>GCA424403391HNRNPUc.38G>C
c.360G>C (p.Pro120=)
n.545G>C
c.144G>C (p.Pro48=)
n.591G>C
c.60G>C (p.Pro20=)
n.584G>C
n.544G>C
1g.244863948C>TCA424403393HNRNPUc.38G>A
c.360G>A (p.Pro120=)
n.545G>A
c.144G>A (p.Pro48=)
n.591G>A
c.60G>A (p.Pro20=)
n.584G>A
n.544G>A
 ClinVar
1g.244863949G>ACA345497300HNRNPUc.37C>T
c.359C>T (p.Pro120Leu)
n.544C>T
c.143C>T (p.Pro48Leu)
n.590C>T
c.59C>T (p.Pro20Leu)
n.583C>T
n.543C>T
 gnomAD v4
1g.244863949G>CCA345497301HNRNPUc.37C>G
c.359C>G (p.Pro120Arg)
n.544C>G
c.143C>G (p.Pro48Arg)
n.590C>G
c.59C>G (p.Pro20Arg)
n.583C>G
n.543C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.244863949G=CA1231007522HNRNPUc.37C=
c.359C= (p.Pro120=)
n.544C=
c.143C= (p.Pro48=)
n.590C=
c.59C= (p.Pro20=)
n.583C=
n.543C=
1g.244863949G>TCA345497302HNRNPUc.37C>A
c.359C>A (p.Pro120Gln)
n.544C>A
c.143C>A (p.Pro48Gln)
n.590C>A
c.59C>A (p.Pro20Gln)
n.583C>A
n.543C>A
1g.244863950G>ACA345497303HNRNPUc.36C>T
c.358C>T (p.Pro120Ser)
n.543C>T
c.142C>T (p.Pro48Ser)
n.589C>T
c.58C>T (p.Pro20Ser)
n.582C>T
n.542C>T
1g.244863950G>CCA345497304HNRNPUc.36C>G
c.358C>G (p.Pro120Ala)
n.543C>G
c.142C>G (p.Pro48Ala)
n.589C>G
c.58C>G (p.Pro20Ala)
n.582C>G
n.542C>G
1g.244863950G>TCA345497305HNRNPUc.36C>A
c.358C>A (p.Pro120Thr)
n.543C>A
c.142C>A (p.Pro48Thr)
n.589C>A
c.58C>A (p.Pro20Thr)
n.582C>A
n.542C>A
 gnomAD v4
1g.244863951G>ACA424403405HNRNPUc.35C>T
c.357C>T (p.Gly119=)
n.542C>T
c.141C>T (p.Gly47=)
n.588C>T
c.57C>T (p.Gly19=)
n.581C>T
n.541C>T
1g.244863951G>CCA424403404HNRNPUc.35C>G
c.357C>G (p.Gly119=)
n.542C>G
c.141C>G (p.Gly47=)
n.588C>G
c.57C>G (p.Gly19=)
n.581C>G
n.541C>G
1g.244863951G>TCA424403403HNRNPUc.35C>A
c.357C>A (p.Gly119=)
n.542C>A
c.141C>A (p.Gly47=)
n.588C>A
c.57C>A (p.Gly19=)
n.581C>A
n.541C>A
1g.244863952C>ACA345497306HNRNPUc.34G>T
c.356G>T (p.Gly119Val)
n.541G>T
c.140G>T (p.Gly47Val)
n.587G>T
c.56G>T (p.Gly19Val)
n.580G>T
n.540G>T
1g.244863952C>GCA345497307HNRNPUc.34G>C
c.356G>C (p.Gly119Ala)
n.541G>C
c.140G>C (p.Gly47Ala)
n.587G>C
c.56G>C (p.Gly19Ala)
n.580G>C
n.540G>C
1g.244863952C>TCA345497308HNRNPUc.34G>A
c.356G>A (p.Gly119Asp)
n.541G>A
c.140G>A (p.Gly47Asp)
n.587G>A
c.56G>A (p.Gly19Asp)
n.580G>A
n.540G>A
1g.244863953C>ACA345497309HNRNPUc.33G>T
c.355G>T (p.Gly119Cys)
n.540G>T
c.139G>T (p.Gly47Cys)
n.586G>T
c.55G>T (p.Gly19Cys)
n.579G>T
n.539G>T
 COSMIC COSMIC
1g.244863953C>GCA345497310HNRNPUc.33G>C
c.355G>C (p.Gly119Arg)
n.540G>C
c.139G>C (p.Gly47Arg)
n.586G>C
c.55G>C (p.Gly19Arg)
n.579G>C
n.539G>C
 gnomAD v4 COSMIC COSMIC
1g.244863953C>TCA345497311HNRNPUc.33G>A
c.355G>A (p.Gly119Ser)
n.540G>A
c.139G>A (p.Gly47Ser)
n.586G>A
c.55G>A (p.Gly19Ser)
n.579G>A
n.539G>A
 ClinVar
1g.244863954C>ACA1486817HNRNPUc.32G>T
c.354G>T (p.Ser118=)
n.539G>T
c.138G>T (p.Ser46=)
n.585G>T
c.54G>T (p.Ser18=)
n.578G>T
n.538G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863954C=CA1231007523HNRNPUc.32G=
c.354G= (p.Ser118=)
n.539G=
c.138G= (p.Ser46=)
n.585G=
c.54G= (p.Ser18=)
n.578G=
n.538G=
1g.244863954C>GCA424403419HNRNPUc.32G>C
c.354G>C (p.Ser118=)
n.539G>C
c.138G>C (p.Ser46=)
n.585G>C
c.54G>C (p.Ser18=)
n.578G>C
n.538G>C
 gnomAD v4
1g.244863954C>TCA424403422HNRNPUc.32G>A
c.354G>A (p.Ser118=)
n.539G>A
c.138G>A (p.Ser46=)
n.585G>A
c.54G>A (p.Ser18=)
n.578G>A
n.538G>A
1g.244863955G>ACA345497312HNRNPUc.31C>T
c.353C>T (p.Ser118Leu)
n.538C>T
c.137C>T (p.Ser46Leu)
n.584C>T
c.53C>T (p.Ser18Leu)
n.577C>T
n.537C>T
1g.244863955G>CCA345497313HNRNPUc.31C>G
c.353C>G (p.Ser118Trp)
n.538C>G
c.137C>G (p.Ser46Trp)
n.584C>G
c.53C>G (p.Ser18Trp)
n.577C>G
n.537C>G
 COSMIC COSMIC
1g.244863955G=CA1231007524HNRNPUc.31C=
c.353C= (p.Ser118=)
n.538C=
c.137C= (p.Ser46=)
n.584C=
c.53C= (p.Ser18=)
n.577C=
n.537C=
1g.244863955G>TCA16603678HNRNPUc.31C>A
c.353C>A (p.Ser118Ter)
n.538C>A
c.137C>A (p.Ser46Ter)
n.584C>A
c.53C>A (p.Ser18Ter)
n.577C>A
n.537C>A
 ClinVar dbSNP
1g.244863956_244863973delCA2573132983HNRNPUc.14_31del
c.336_353del (p.Ala113_Ser118del)
n.521_538del
c.120_137del (p.Ala41_Ser46del)
n.567_584del
c.36_53del (p.Ala13_Ser18del)
n.560_577del
n.520_537del
 ClinVar dbSNP
1g.244863956A=CA1146316102HNRNPUc.30T=
c.352T= (p.Ser118=)
n.537T=
c.136T= (p.Ser46=)
n.583T=
c.52T= (p.Ser18=)
n.576T=
n.536T=
1g.244863956A>CCA345497314HNRNPUc.30T>G
c.352T>G (p.Ser118Ala)
n.537T>G
c.136T>G (p.Ser46Ala)
n.583T>G
c.52T>G (p.Ser18Ala)
n.576T>G
n.536T>G
1g.244863956A>GCA1486818HNRNPUc.30T>C
c.352T>C (p.Ser118Pro)
n.537T>C
c.136T>C (p.Ser46Pro)
n.583T>C
c.52T>C (p.Ser18Pro)
n.576T>C
n.536T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863956A>TCA345497315HNRNPUc.30T>A
c.352T>A (p.Ser118Thr)
n.537T>A
c.136T>A (p.Ser46Thr)
n.583T>A
c.52T>A (p.Ser18Thr)
n.576T>A
n.536T>A
1g.244863957G>ACA424403432HNRNPUc.29C>T
c.351C>T (p.Asp117=)
n.536C>T
c.135C>T (p.Asp45=)
n.582C>T
c.51C>T (p.Asp17=)
n.575C>T
n.535C>T
 dbSNP gnomAD v3 gnomAD v4
1g.244863957G>CCA345497316HNRNPUc.29C>G
c.351C>G (p.Asp117Glu)
n.536C>G
c.135C>G (p.Asp45Glu)
n.582C>G
c.51C>G (p.Asp17Glu)
n.575C>G
n.535C>G
 gnomAD v4
1g.244863957G=CA1231007525HNRNPUc.29C=
c.351C= (p.Asp117=)
n.536C=
c.135C= (p.Asp45=)
n.582C=
c.51C= (p.Asp17=)
n.575C=
n.535C=
1g.244863957G>TCA345497317HNRNPUc.29C>A
c.351C>A (p.Asp117Glu)
n.536C>A
c.135C>A (p.Asp45Glu)
n.582C>A
c.51C>A (p.Asp17Glu)
n.575C>A
n.535C>A
1g.244863958_244863973delCA2580063540HNRNPUc.14_29del
c.336_351del (p.Ala113ArgfsTer?)
n.521_536del
c.120_135del (p.Ala41ArgfsTer?)
n.567_582del
c.36_51del (p.Ala13ArgfsTer?)
n.560_575del
n.520_535del
 ClinVar
1g.244863958T>ACA345497318HNRNPUc.28A>T
c.350A>T (p.Asp117Val)
n.535A>T
c.134A>T (p.Asp45Val)
n.581A>T
c.50A>T (p.Asp17Val)
n.574A>T
n.534A>T
1g.244863958T>CCA1486819HNRNPUc.28A>G
c.350A>G (p.Asp117Gly)
n.535A>G
c.134A>G (p.Asp45Gly)
n.581A>G
c.50A>G (p.Asp17Gly)
n.574A>G
n.534A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863958T>GCA345497319HNRNPUc.28A>C
c.350A>C (p.Asp117Ala)
n.535A>C
c.134A>C (p.Asp45Ala)
n.581A>C
c.50A>C (p.Asp17Ala)
n.574A>C
n.534A>C
 dbSNP gnomAD v2
1g.244863958T=CA1231007526HNRNPUc.28A=
c.350A= (p.Asp117=)
n.535A=
c.134A= (p.Asp45=)
n.581A=
c.50A= (p.Asp17=)
n.574A=
n.534A=
1g.244863959C>ACA345497320HNRNPUc.27G>T
c.349G>T (p.Asp117Tyr)
n.534G>T
c.133G>T (p.Asp45Tyr)
n.580G>T
c.49G>T (p.Asp17Tyr)
n.573G>T
n.533G>T
 gnomAD v4
1g.244863959C=CA1231007527HNRNPUc.27G=
c.349G= (p.Asp117=)
n.534G=
c.133G= (p.Asp45=)
n.580G=
c.49G= (p.Asp17=)
n.573G=
n.533G=
1g.244863959C>GCA1486820HNRNPUc.27G>C
c.349G>C (p.Asp117His)
n.534G>C
c.133G>C (p.Asp45His)
n.580G>C
c.49G>C (p.Asp17His)
n.573G>C
n.533G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863959C>TCA345497321HNRNPUc.27G>A
c.349G>A (p.Asp117Asn)
n.534G>A
c.133G>A (p.Asp45Asn)
n.580G>A
c.49G>A (p.Asp17Asn)
n.573G>A
n.533G>A
 gnomAD v4
1g.244863960G>ACA424403438HNRNPUc.26C>T
c.348C>T (p.Ala116=)
n.533C>T
c.132C>T (p.Ala44=)
n.579C>T
c.48C>T (p.Ala16=)
n.572C>T
n.532C>T
 gnomAD v4
1g.244863960G>CCA424403439HNRNPUc.26C>G
c.348C>G (p.Ala116=)
n.533C>G
c.132C>G (p.Ala44=)
n.579C>G
c.48C>G (p.Ala16=)
n.572C>G
n.532C>G
1g.244863960G>TCA424403440HNRNPUc.26C>A
c.348C>A (p.Ala116=)
n.533C>A
c.132C>A (p.Ala44=)
n.579C>A
c.48C>A (p.Ala16=)
n.572C>A
n.532C>A
1g.244863961G>ACA345497324HNRNPUc.25C>T
c.347C>T (p.Ala116Val)
n.532C>T
c.131C>T (p.Ala44Val)
n.578C>T
c.47C>T (p.Ala16Val)
n.571C>T
n.531C>T
 ClinVar dbSNP
1g.244863961G>CCA345497323HNRNPUc.25C>G
c.347C>G (p.Ala116Gly)
n.532C>G
c.131C>G (p.Ala44Gly)
n.578C>G
c.47C>G (p.Ala16Gly)
n.571C>G
n.531C>G
 gnomAD v4
1g.244863961G=CA1231007528HNRNPUc.25C=
c.347C= (p.Ala116=)
n.532C=
c.131C= (p.Ala44=)
n.578C=
c.47C= (p.Ala16=)
n.571C=
n.531C=
1g.244863961G>TCA345497322HNRNPUc.25C>A
c.347C>A (p.Ala116Asp)
n.532C>A
c.131C>A (p.Ala44Asp)
n.578C>A
c.47C>A (p.Ala16Asp)
n.571C>A
n.531C>A
1g.244863962C>ACA345497327HNRNPUc.24G>T
c.346G>T (p.Ala116Ser)
n.531G>T
c.130G>T (p.Ala44Ser)
n.577G>T
c.46G>T (p.Ala16Ser)
n.570G>T
n.530G>T
1g.244863962C>GCA345497325HNRNPUc.24G>C
c.346G>C (p.Ala116Pro)
n.531G>C
c.130G>C (p.Ala44Pro)
n.577G>C
c.46G>C (p.Ala16Pro)
n.570G>C
n.530G>C
 dbSNP COSMIC COSMIC
1g.244863962C>TCA345497326HNRNPUc.24G>A
c.346G>A (p.Ala116Thr)
n.531G>A
c.130G>A (p.Ala44Thr)
n.577G>A
c.46G>A (p.Ala16Thr)
n.570G>A
n.530G>A
1g.244863963C>ACA424403444HNRNPUc.23G>T
c.345G>T (p.Ala115=)
n.530G>T
c.129G>T (p.Ala43=)
n.576G>T
c.45G>T (p.Ala15=)
n.569G>T
n.529G>T
1g.244863963C>GCA424403445HNRNPUc.23G>C
c.345G>C (p.Ala115=)
n.530G>C
c.129G>C (p.Ala43=)
n.576G>C
c.45G>C (p.Ala15=)
n.569G>C
n.529G>C
1g.244863963C>TCA424403448HNRNPUc.23G>A
c.345G>A (p.Ala115=)
n.530G>A
c.129G>A (p.Ala43=)
n.576G>A
c.45G>A (p.Ala15=)
n.569G>A
n.529G>A
1g.244863964G>ACA345497328HNRNPUc.22C>T
c.344C>T (p.Ala115Val)
n.529C>T
c.128C>T (p.Ala43Val)
n.575C>T
c.44C>T (p.Ala15Val)
n.568C>T
n.528C>T
 dbSNP
1g.244863964G>CCA345497329HNRNPUc.22C>G
c.344C>G (p.Ala115Gly)
n.529C>G
c.128C>G (p.Ala43Gly)
n.575C>G
c.44C>G (p.Ala15Gly)
n.568C>G
n.528C>G
1g.244863964G=CA1231007529HNRNPUc.22C=
c.344C= (p.Ala115=)
n.529C=
c.128C= (p.Ala43=)
n.575C=
c.44C= (p.Ala15=)
n.568C=
n.528C=
1g.244863964G>TCA345497330HNRNPUc.22C>A
c.344C>A (p.Ala115Glu)
n.529C>A
c.128C>A (p.Ala43Glu)
n.575C>A
c.44C>A (p.Ala15Glu)
n.568C>A
n.528C>A
1g.244863965C>ACA345497333HNRNPUc.21G>T
c.343G>T (p.Ala115Ser)
n.528G>T
c.127G>T (p.Ala43Ser)
n.574G>T
c.43G>T (p.Ala15Ser)
n.567G>T
n.527G>T
1g.244863965C>GCA345497332HNRNPUc.21G>C
c.343G>C (p.Ala115Pro)
n.528G>C
c.127G>C (p.Ala43Pro)
n.574G>C
c.43G>C (p.Ala15Pro)
n.567G>C
n.527G>C
1g.244863965C>TCA345497331HNRNPUc.21G>A
c.343G>A (p.Ala115Thr)
n.528G>A
c.127G>A (p.Ala43Thr)
n.574G>A
c.43G>A (p.Ala15Thr)
n.567G>A
n.527G>A
1g.244863969delCA2748454221HNRNPUc.21del
c.343del (p.Ala115ArgfsTer?)
n.528del
c.127del (p.Ala43ArgfsTer?)
n.574del
c.43del (p.Ala15ArgfsTer?)
n.567del
n.527del
1g.244863966C>ACA424403453HNRNPUc.20G>T
c.342G>T (p.Gly114=)
n.527G>T
c.126G>T (p.Gly42=)
n.573G>T
c.42G>T (p.Gly14=)
n.566G>T
n.526G>T
1g.244863966C>GCA424403454HNRNPUc.20G>C
c.342G>C (p.Gly114=)
n.527G>C
c.126G>C (p.Gly42=)
n.573G>C
c.42G>C (p.Gly14=)
n.566G>C
n.526G>C
1g.244863966C>TCA424403455HNRNPUc.20G>A
c.342G>A (p.Gly114=)
n.527G>A
c.126G>A (p.Gly42=)
n.573G>A
c.42G>A (p.Gly14=)
n.566G>A
n.526G>A
1g.244863967C>ACA345497334HNRNPUc.19G>T
c.341G>T (p.Gly114Val)
n.526G>T
c.125G>T (p.Gly42Val)
n.572G>T
c.41G>T (p.Gly14Val)
n.565G>T
n.525G>T
1g.244863967C>GCA345497335HNRNPUc.19G>C
c.341G>C (p.Gly114Ala)
n.526G>C
c.125G>C (p.Gly42Ala)
n.572G>C
c.41G>C (p.Gly14Ala)
n.565G>C
n.525G>C
1g.244863967C>TCA345497336HNRNPUc.19G>A
c.341G>A (p.Gly114Glu)
n.526G>A
c.125G>A (p.Gly42Glu)
n.572G>A
c.41G>A (p.Gly14Glu)
n.565G>A
n.525G>A
1g.244863968C>ACA345497337HNRNPUc.18G>T
c.340G>T (p.Gly114Trp)
n.525G>T
c.124G>T (p.Gly42Trp)
n.571G>T
c.40G>T (p.Gly14Trp)
n.564G>T
n.524G>T
1g.244863968C>GCA345497338HNRNPUc.18G>C
c.340G>C (p.Gly114Arg)
n.525G>C
c.124G>C (p.Gly42Arg)
n.571G>C
c.40G>C (p.Gly14Arg)
n.564G>C
n.524G>C
1g.244863968C>TCA345497339HNRNPUc.18G>A
c.340G>A (p.Gly114Arg)
n.525G>A
c.124G>A (p.Gly42Arg)
n.571G>A
c.40G>A (p.Gly14Arg)
n.564G>A
n.524G>A
 gnomAD v4
1g.244863969C>ACA424403460HNRNPUc.17G>T
c.339G>T (p.Ala113=)
n.524G>T
c.123G>T (p.Ala41=)
n.570G>T
c.39G>T (p.Ala13=)
n.563G>T
n.523G>T
1g.244863969C=CA1231007530HNRNPUc.17G=
c.339G= (p.Ala113=)
n.524G=
c.123G= (p.Ala41=)
n.570G=
c.39G= (p.Ala13=)
n.563G=
n.523G=
1g.244863969C>GCA424403461HNRNPUc.17G>C
c.339G>C (p.Ala113=)
n.524G>C
c.123G>C (p.Ala41=)
n.570G>C
c.39G>C (p.Ala13=)
n.563G>C
n.523G>C
 gnomAD v4
1g.244863969C>TCA424403462HNRNPUc.17G>A
c.339G>A (p.Ala113=)
n.524G>A
c.123G>A (p.Ala41=)
n.570G>A
c.39G>A (p.Ala13=)
n.563G>A
n.523G>A
 dbSNP
1g.244863970G>ACA345497342HNRNPUc.16C>T
c.338C>T (p.Ala113Val)
n.523C>T
c.122C>T (p.Ala41Val)
n.569C>T
c.38C>T (p.Ala13Val)
n.562C>T
n.522C>T
1g.244863970G>CCA345497340HNRNPUc.16C>G
c.338C>G (p.Ala113Gly)
n.523C>G
c.122C>G (p.Ala41Gly)
n.569C>G
c.38C>G (p.Ala13Gly)
n.562C>G
n.522C>G
1g.244863970G>TCA345497341HNRNPUc.16C>A
c.338C>A (p.Ala113Glu)
n.523C>A
c.122C>A (p.Ala41Glu)
n.569C>A
c.38C>A (p.Ala13Glu)
n.562C>A
n.522C>A
1g.244863971C>ACA345497343HNRNPUc.15G>T
c.337G>T (p.Ala113Ser)
n.522G>T
c.121G>T (p.Ala41Ser)
n.568G>T
c.37G>T (p.Ala13Ser)
n.561G>T
n.521G>T
 dbSNP gnomAD v3 gnomAD v4
1g.244863971C=CA1231007531HNRNPUc.15G=
c.337G= (p.Ala113=)
n.522G=
c.121G= (p.Ala41=)
n.568G=
c.37G= (p.Ala13=)
n.561G=
n.521G=
1g.244863971C>GCA345497344HNRNPUc.15G>C
c.337G>C (p.Ala113Pro)
n.522G>C
c.121G>C (p.Ala41Pro)
n.568G>C
c.37G>C (p.Ala13Pro)
n.561G>C
n.521G>C
1g.244863971C>TCA345497345HNRNPUc.15G>A
c.337G>A (p.Ala113Thr)
n.522G>A
c.121G>A (p.Ala41Thr)
n.568G>A
c.37G>A (p.Ala13Thr)
n.561G>A
n.521G>A
 dbSNP gnomAD v2 gnomAD v4
1g.244863972G>ACA1486821HNRNPUc.14C>T
c.336C>T (p.Ala112=)
n.521C>T
c.120C>T (p.Ala40=)
n.567C>T
c.36C>T (p.Ala12=)
n.560C>T
n.520C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863972G>CCA424403466HNRNPUc.14C>G
c.336C>G (p.Ala112=)
n.521C>G
c.120C>G (p.Ala40=)
n.567C>G
c.36C>G (p.Ala12=)
n.560C>G
n.520C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.244863972G=CA1231007532HNRNPUc.14C=
c.336C= (p.Ala112=)
n.521C=
c.120C= (p.Ala40=)
n.567C=
c.36C= (p.Ala12=)
n.560C=
n.520C=
1g.244863972G>TCA424403465HNRNPUc.14C>A
c.336C>A (p.Ala112=)
n.521C>A
c.120C>A (p.Ala40=)
n.567C>A
c.36C>A (p.Ala12=)
n.560C>A
n.520C>A
1g.244863972_244863973insCCA2586968604HNRNPUc.13_14insG
c.335_336insG (p.Ala113ArgfsTer?)
n.520_521insG
c.119_120insG (p.Ala41ArgfsTer?)
n.566_567insG
c.35_36insG (p.Ala13ArgfsTer?)
n.559_560insG
n.519_520insG
1g.244863973G>ACA345497346HNRNPUc.13C>T
c.335C>T (p.Ala112Val)
n.520C>T
c.119C>T (p.Ala40Val)
n.566C>T
c.35C>T (p.Ala12Val)
n.559C>T
n.519C>T
1g.244863973G>CCA345497347HNRNPUc.13C>G
c.335C>G (p.Ala112Gly)
n.520C>G
c.119C>G (p.Ala40Gly)
n.566C>G
c.35C>G (p.Ala12Gly)
n.559C>G
n.519C>G
1g.244863973G=CA1231007533HNRNPUc.13C=
c.335C= (p.Ala112=)
n.520C=
c.119C= (p.Ala40=)
n.566C=
c.35C= (p.Ala12=)
n.559C=
n.519C=
1g.244863973G>TCA345497348HNRNPUc.13C>A
c.335C>A (p.Ala112Asp)
n.520C>A
c.119C>A (p.Ala40Asp)
n.566C>A
c.35C>A (p.Ala12Asp)
n.559C>A
n.519C>A
 dbSNP gnomAD v4
1g.244863974C>ACA345497349HNRNPUc.12G>T
c.334G>T (p.Ala112Ser)
n.519G>T
c.118G>T (p.Ala40Ser)
n.565G>T
c.34G>T (p.Ala12Ser)
n.558G>T
n.518G>T
1g.244863974C=CA1231007534HNRNPUc.12G=
c.334G= (p.Ala112=)
n.519G=
c.118G= (p.Ala40=)
n.565G=
c.34G= (p.Ala12=)
n.558G=
n.518G=
1g.244863974C>GCA345497350HNRNPUc.12G>C
c.334G>C (p.Ala112Pro)
n.519G>C
c.118G>C (p.Ala40Pro)
n.565G>C
c.34G>C (p.Ala12Pro)
n.558G>C
n.518G>C
1g.244863974C>TCA345497351HNRNPUc.12G>A
c.334G>A (p.Ala112Thr)
n.519G>A
c.118G>A (p.Ala40Thr)
n.565G>A
c.34G>A (p.Ala12Thr)
n.558G>A
n.518G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244863977dupCA2586968605HNRNPUc.12dup
c.334dup (p.Ala112GlyfsTer?)
n.519dup
c.118dup (p.Ala40GlyfsTer?)
n.565dup
c.34dup (p.Ala12GlyfsTer?)
n.558dup
n.518dup
1g.244863975C>ACA424403471HNRNPUc.11G>T
c.333G>T (p.Gly111=)
n.518G>T
c.117G>T (p.Gly39=)
n.564G>T
c.33G>T (p.Gly11=)
n.557G>T
n.517G>T
1g.244863975C>GCA424403472HNRNPUc.11G>C
c.333G>C (p.Gly111=)
n.518G>C
c.117G>C (p.Gly39=)
n.564G>C
c.33G>C (p.Gly11=)
n.557G>C
n.517G>C
 gnomAD v4
1g.244863975C>TCA424403473HNRNPUc.11G>A
c.333G>A (p.Gly111=)
n.518G>A
c.117G>A (p.Gly39=)
n.564G>A
c.33G>A (p.Gly11=)
n.557G>A
n.517G>A
1g.244863976C>ACA345497352HNRNPUc.10G>T
c.332G>T (p.Gly111Val)
n.517G>T
c.116G>T (p.Gly39Val)
n.563G>T
c.32G>T (p.Gly11Val)
n.556G>T
n.516G>T
1g.244863976C>GCA345497353HNRNPUc.10G>C
c.332G>C (p.Gly111Ala)
n.517G>C
c.116G>C (p.Gly39Ala)
n.563G>C
c.32G>C (p.Gly11Ala)
n.556G>C
n.516G>C
 ClinVar
1g.244863976C>TCA345497354HNRNPUc.10G>A
c.332G>A (p.Gly111Glu)
n.517G>A
c.116G>A (p.Gly39Glu)
n.563G>A
c.32G>A (p.Gly11Glu)
n.556G>A
n.516G>A
1g.244863977C>ACA345497355HNRNPUc.9G>T
c.331G>T (p.Gly111Trp)
n.516G>T
c.115G>T (p.Gly39Trp)
n.562G>T
c.31G>T (p.Gly11Trp)
n.555G>T
n.515G>T
1g.244863977C=CA1231007535HNRNPUc.9G=
c.331G= (p.Gly111=)
n.516G=
c.115G= (p.Gly39=)
n.562G=
c.31G= (p.Gly11=)
n.555G=
n.515G=
1g.244863977C>GCA345497357HNRNPUc.9G>C
c.331G>C (p.Gly111Arg)
n.516G>C
c.115G>C (p.Gly39Arg)
n.562G>C
c.31G>C (p.Gly11Arg)
n.555G>C
n.515G>C
 dbSNP
1g.244863977C>TCA345497356HNRNPUc.9G>A
c.331G>A (p.Gly111Arg)
n.516G>A
c.115G>A (p.Gly39Arg)
n.562G>A
c.31G>A (p.Gly11Arg)
n.555G>A
n.515G>A
1g.244863978G>ACA424403480HNRNPUc.8C>T
c.330C>T (p.Asn110=)
n.515C>T
c.114C>T (p.Asn38=)
n.561C>T
c.30C>T (p.Asn10=)
n.554C>T
n.514C>T
1g.244863978G>CCA345497358HNRNPUc.8C>G
c.330C>G (p.Asn110Lys)
n.515C>G
c.114C>G (p.Asn38Lys)
n.561C>G
c.30C>G (p.Asn10Lys)
n.554C>G
n.514C>G
 gnomAD v4
1g.244863978G>TCA345497359HNRNPUc.8C>A
c.330C>A (p.Asn110Lys)
n.515C>A
c.114C>A (p.Asn38Lys)
n.561C>A
c.30C>A (p.Asn10Lys)
n.554C>A
n.514C>A
1g.244863979T>ACA345497360HNRNPUc.7A>T
c.329A>T (p.Asn110Ile)
n.514A>T
c.113A>T (p.Asn38Ile)
n.560A>T
c.29A>T (p.Asn10Ile)
n.553A>T
n.513A>T
1g.244863979T>CCA345497361HNRNPUc.7A>G
c.329A>G (p.Asn110Ser)
n.514A>G
c.113A>G (p.Asn38Ser)
n.560A>G
c.29A>G (p.Asn10Ser)
n.553A>G
n.513A>G
1g.244863979T>GCA345497362HNRNPUc.7A>C
c.329A>C (p.Asn110Thr)
n.514A>C
c.113A>C (p.Asn38Thr)
n.560A>C
c.29A>C (p.Asn10Thr)
n.553A>C
n.513A>C
1g.244863980T>ACA345497363HNRNPUc.6A>T
c.328A>T (p.Asn110Tyr)
n.513A>T
c.112A>T (p.Asn38Tyr)
n.559A>T
c.28A>T (p.Asn10Tyr)
n.552A>T
n.512A>T
 gnomAD v4
1g.244863980T>CCA345497364HNRNPUc.6A>G
c.328A>G (p.Asn110Asp)
n.513A>G
c.112A>G (p.Asn38Asp)
n.559A>G
c.28A>G (p.Asn10Asp)
n.552A>G
n.512A>G
1g.244863980T>GCA345497365HNRNPUc.6A>C
c.328A>C (p.Asn110His)
n.513A>C
c.112A>C (p.Asn38His)
n.559A>C
c.28A>C (p.Asn10His)
n.552A>C
n.512A>C
1g.244863981C>ACA345497366HNRNPUc.5G>T
c.327G>T (p.Glu109Asp)
n.512G>T
c.111G>T (p.Glu37Asp)
n.558G>T
c.27G>T (p.Glu9Asp)
n.551G>T
n.511G>T
1g.244863981C>GCA345497367HNRNPUc.5G>C
c.327G>C (p.Glu109Asp)
n.512G>C
c.111G>C (p.Glu37Asp)
n.558G>C
c.27G>C (p.Glu9Asp)
n.551G>C
n.511G>C
1g.244863981C>TCA424403483HNRNPUc.5G>A
c.327G>A (p.Glu109=)
n.512G>A
c.111G>A (p.Glu37=)
n.558G>A
c.27G>A (p.Glu9=)
n.551G>A
n.511G>A
1g.244863984_244863986delCA2651343582HNRNPUc.325_327del (p.Glu109del)
n.510_512del
c.109_111del (p.Glu37del)
n.556_558del
c.25_27del (p.Glu9del)
n.549_551del
n.509_511del
 gnomAD v4
1g.244863982T>ACA345497368HNRNPUc.4A>T
c.326A>T (p.Glu109Val)
n.511A>T
c.110A>T (p.Glu37Val)
n.557A>T
c.26A>T (p.Glu9Val)
n.550A>T
n.510A>T
1g.244863982T>CCA345497369HNRNPUc.4A>G
c.326A>G (p.Glu109Gly)
n.511A>G
c.110A>G (p.Glu37Gly)
n.557A>G
c.26A>G (p.Glu9Gly)
n.550A>G
n.510A>G
1g.244863982T>GCA345497370HNRNPUc.4A>C
c.326A>C (p.Glu109Ala)
n.511A>C
c.110A>C (p.Glu37Ala)
n.557A>C
c.26A>C (p.Glu9Ala)
n.550A>C
n.510A>C
1g.244863983C>ACA345497371HNRNPUc.3G>T
c.325G>T (p.Glu109Ter)
n.510G>T
c.109G>T (p.Glu37Ter)
n.556G>T
c.25G>T (p.Glu9Ter)
n.549G>T
n.509G>T
 ClinVar dbSNP
1g.244863983C=CA1231007536HNRNPUc.3G=
c.325G= (p.Glu109=)
n.510G=
c.109G= (p.Glu37=)
n.556G=
c.25G= (p.Glu9=)
n.549G=
n.509G=
1g.244863983C>GCA345497373HNRNPUc.3G>C
c.325G>C (p.Glu109Gln)
n.510G>C
c.109G>C (p.Glu37Gln)
n.556G>C
c.25G>C (p.Glu9Gln)
n.549G>C
n.509G>C
 ClinVar
1g.244863983C>TCA345497372HNRNPUc.3G>A
c.325G>A (p.Glu109Lys)
n.510G>A
c.109G>A (p.Glu37Lys)
n.556G>A
c.25G>A (p.Glu9Lys)
n.549G>A
n.509G>A
 dbSNP
1g.244863984C>ACA345497374HNRNPUc.2G>T
c.324G>T (p.Glu108Asp)
n.509G>T
c.108G>T (p.Glu36Asp)
n.555G>T
c.24G>T (p.Glu8Asp)
n.548G>T
n.508G>T
1g.244863984C>GCA345497375HNRNPUc.2G>C
c.324G>C (p.Glu108Asp)
n.509G>C
c.108G>C (p.Glu36Asp)
n.555G>C
c.24G>C (p.Glu8Asp)
n.548G>C
n.508G>C
1g.244863984C>TCA424403487HNRNPUc.2G>A
c.324G>A (p.Glu108=)
n.509G>A
c.108G>A (p.Glu36=)
n.555G>A
c.24G>A (p.Glu8=)
n.548G>A
n.508G>A
 ClinVar gnomAD v4
1g.244863985T>ACA345497376HNRNPUc.1A>T
c.323A>T (p.Glu108Val)
n.508A>T
c.107A>T (p.Glu36Val)
n.554A>T
c.23A>T (p.Glu8Val)
n.547A>T
n.507A>T
1g.244863985T>CCA345497377HNRNPUc.1A>G
c.323A>G (p.Glu108Gly)
n.508A>G
c.107A>G (p.Glu36Gly)
n.554A>G
c.23A>G (p.Glu8Gly)
n.547A>G
n.507A>G
 dbSNP gnomAD v3 gnomAD v4
1g.244863985T>GCA345497378HNRNPUc.1A>C
c.323A>C (p.Glu108Ala)
n.508A>C
c.107A>C (p.Glu36Ala)
n.554A>C
c.23A>C (p.Glu8Ala)
n.547A>C
n.507A>C
1g.244863985T=CA1231007538HNRNPUc.1A=
c.323A= (p.Glu108=)
n.508A=
c.107A= (p.Glu36=)
n.554A=
c.23A= (p.Glu8=)
n.547A=
n.507A=
1g.244863985_244863992delinsTCTCCTAGCA1231007537HNRNPUc.316_323delinsCTAGGAGA (p.Leu106=)
n.501_508delinsCTAGGAGA
c.100_107delinsCTAGGAGA (p.Leu34=)
n.547_554delinsCTAGGAGA
c.16_23delinsCTAGGAGA (p.Leu6=)
n.540_547delinsCTAGGAGA
n.500_507delinsCTAGGAGA
1g.244863986C>ACA345497379HNRNPUc.322G>T (p.Glu108Ter)
n.507G>T
c.106G>T (p.Glu36Ter)
n.553G>T
c.22G>T (p.Glu8Ter)
n.546G>T
n.506G>T
1g.244863986C>GCA345497380HNRNPUc.322G>C (p.Glu108Gln)
n.507G>C
c.106G>C (p.Glu36Gln)
n.553G>C
c.22G>C (p.Glu8Gln)
n.546G>C
n.506G>C
 gnomAD v4
1g.244863986C>TCA345497381HNRNPUc.322G>A (p.Glu108Lys)
n.507G>A
c.106G>A (p.Glu36Lys)
n.553G>A
c.22G>A (p.Glu8Lys)
n.546G>A
n.506G>A
 gnomAD v4
1g.244863990_244863996delCA658657006HNRNPUc.316_322del (p.Leu106ArgfsTer?)
n.501_507del
c.100_106del (p.Leu34ArgfsTer?)
n.547_553del
c.16_22del (p.Leu6ArgfsTer?)
n.540_546del
n.500_506del
 ClinVar dbSNP
1g.244863987T>ACA424403489HNRNPUc.321A>T (p.Gly107=)
n.506A>T
c.105A>T (p.Gly35=)
n.552A>T
c.21A>T (p.Gly7=)
n.545A>T
n.505A>T
1g.244863987T>CCA424403490HNRNPUc.321A>G (p.Gly107=)
n.506A>G
c.105A>G (p.Gly35=)
n.552A>G
c.21A>G (p.Gly7=)
n.545A>G
n.505A>G
1g.244863987T>GCA424403491HNRNPUc.321A>C (p.Gly107=)
n.506A>C
c.105A>C (p.Gly35=)
n.552A>C
c.21A>C (p.Gly7=)
n.545A>C
n.505A>C
1g.244863988C>ACA345497382HNRNPUc.320G>T (p.Gly107Val)
n.505G>T
c.104G>T (p.Gly35Val)
n.551G>T
c.20G>T (p.Gly7Val)
n.544G>T
n.504G>T
1g.244863988C>GCA345497383HNRNPUc.320G>C (p.Gly107Ala)
n.505G>C
c.104G>C (p.Gly35Ala)
n.551G>C
c.20G>C (p.Gly7Ala)
n.544G>C
n.504G>C
 gnomAD v4
1g.244863988C>TCA345497384HNRNPUc.320G>A (p.Gly107Glu)
n.505G>A
c.104G>A (p.Gly35Glu)
n.551G>A
c.20G>A (p.Gly7Glu)
n.544G>A
n.504G>A
 gnomAD v4
1g.244863989C>ACA345497387HNRNPUc.319G>T (p.Gly107Ter)
n.504G>T
c.103G>T (p.Gly35Ter)
n.550G>T
c.19G>T (p.Gly7Ter)
n.543G>T
n.503G>T
1g.244863989C>GCA345497386HNRNPUc.319G>C (p.Gly107Arg)
n.504G>C
c.103G>C (p.Gly35Arg)
n.550G>C
c.19G>C (p.Gly7Arg)
n.543G>C
n.503G>C
1g.244863989C>TCA345497385HNRNPUc.319G>A (p.Gly107Arg)
n.504G>A
c.103G>A (p.Gly35Arg)
n.550G>A
c.19G>A (p.Gly7Arg)
n.543G>A
n.503G>A
1g.244863989_244863991dupCA2651343593HNRNPUc.317_319dup (p.Leu106_Gly107insVal)
n.502_504dup
c.101_103dup (p.Leu34_Gly35insVal)
n.548_550dup
c.17_19dup (p.Leu6_Gly7insVal)
n.541_543dup
n.501_503dup
 gnomAD v4
1g.244863990T>ACA424403495HNRNPUc.318A>T (p.Leu106=)
n.503A>T
c.102A>T (p.Leu34=)
n.549A>T
c.18A>T (p.Leu6=)
n.542A>T
n.502A>T
1g.244863990T>CCA40505210HNRNPUc.318A>G (p.Leu106=)
n.503A>G
c.102A>G (p.Leu34=)
n.549A>G
c.18A>G (p.Leu6=)
n.542A>G
n.502A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.244863990T>GCA424403496HNRNPUc.318A>C (p.Leu106=)
n.503A>C
c.102A>C (p.Leu34=)
n.549A>C
c.18A>C (p.Leu6=)
n.542A>C
n.502A>C
1g.244863990T=CA1231007539HNRNPUc.318A= (p.Leu106=)
n.503A=
c.102A= (p.Leu34=)
n.549A=
c.18A= (p.Leu6=)
n.542A=
n.502A=
1g.244863991A=CA1143642369HNRNPUc.317T= (p.Leu106=)
n.502T=
c.101T= (p.Leu34=)
n.548T=
c.17T= (p.Leu6=)
n.541T=
n.501T=
1g.244863991A>CCA345497388HNRNPUc.317T>G (p.Leu106Arg)
n.502T>G
c.101T>G (p.Leu34Arg)
n.548T>G
c.17T>G (p.Leu6Arg)
n.541T>G
n.501T>G
1g.244863991A>GCA1486822HNRNPUc.317T>C (p.Leu106Pro)
n.502T>C
c.101T>C (p.Leu34Pro)
n.548T>C
c.17T>C (p.Leu6Pro)
n.541T>C
n.501T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863991A>TCA345497389HNRNPUc.317T>A (p.Leu106Gln)
n.502T>A
c.101T>A (p.Leu34Gln)
n.548T>A
c.17T>A (p.Leu6Gln)
n.541T>A
n.501T>A
1g.244863992G>ACA1486823HNRNPUc.316C>T (p.Leu106=)
n.501C>T
c.100C>T (p.Leu34=)
n.547C>T
c.16C>T (p.Leu6=)
n.540C>T
n.500C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863992G>CCA345497390HNRNPUc.316C>G (p.Leu106Val)
n.501C>G
c.100C>G (p.Leu34Val)
n.547C>G
c.16C>G (p.Leu6Val)
n.540C>G
n.500C>G
 ClinVar
1g.244863992G=CA1231007540HNRNPUc.316C= (p.Leu106=)
n.501C=
c.100C= (p.Leu34=)
n.547C=
c.16C= (p.Leu6=)
n.540C=
n.500C=
1g.244863992G>TCA345497391HNRNPUc.316C>A (p.Leu106Ile)
n.501C>A
c.100C>A (p.Leu34Ile)
n.547C>A
c.16C>A (p.Leu6Ile)
n.540C>A
n.500C>A
1g.244863993C>ACA1486824HNRNPUc.315G>T (p.Glu105Asp)
n.500G>T
c.99G>T (p.Glu33Asp)
n.546G>T
c.15G>T (p.Glu5Asp)
n.539G>T
n.499G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863993C=CA1149104498HNRNPUc.315G= (p.Glu105=)
n.500G=
c.99G= (p.Glu33=)
n.546G=
c.15G= (p.Glu5=)
n.539G=
n.499G=
1g.244863993C>GCA345497392HNRNPUc.315G>C (p.Glu105Asp)
n.500G>C
c.99G>C (p.Glu33Asp)
n.546G>C
c.15G>C (p.Glu5Asp)
n.539G>C
n.499G>C
 ClinVar gnomAD v4
1g.244863993C>TCA424403504HNRNPUc.315G>A (p.Glu105=)
n.500G>A
c.99G>A (p.Glu33=)
n.546G>A
c.15G>A (p.Glu5=)
n.539G>A
n.499G>A
 dbSNP gnomAD v3 gnomAD v4
1g.244863994T>ACA345497395HNRNPUc.314A>T (p.Glu105Val)
n.499A>T
c.98A>T (p.Glu33Val)
n.545A>T
c.14A>T (p.Glu5Val)
n.538A>T
n.498A>T
1g.244863994T>CCA345497394HNRNPUc.314A>G (p.Glu105Gly)
n.499A>G
c.98A>G (p.Glu33Gly)
n.545A>G
c.14A>G (p.Glu5Gly)
n.538A>G
n.498A>G
1g.244863994T>GCA345497393HNRNPUc.314A>C (p.Glu105Ala)
n.499A>C
c.98A>C (p.Glu33Ala)
n.545A>C
c.14A>C (p.Glu5Ala)
n.538A>C
n.498A>C
1g.244863995C>ACA345497396HNRNPUc.313G>T (p.Glu105Ter)
n.498G>T
c.97G>T (p.Glu33Ter)
n.544G>T
c.13G>T (p.Glu5Ter)
n.537G>T
n.497G>T
1g.244863995C>GCA345497397HNRNPUc.313G>C (p.Glu105Gln)
n.498G>C
c.97G>C (p.Glu33Gln)
n.544G>C
c.13G>C (p.Glu5Gln)
n.537G>C
n.497G>C
 ClinVar
1g.244863995C>TCA345497398HNRNPUc.313G>A (p.Glu105Lys)
n.498G>A
c.97G>A (p.Glu33Lys)
n.544G>A
c.13G>A (p.Glu5Lys)
n.537G>A
n.497G>A
1g.244863996C>ACA345497399HNRNPUc.312G>T (p.Met104Ile)
n.497G>T
c.96G>T (p.Met32Ile)
n.543G>T
c.12G>T (p.Met4Ile)
n.536G>T
n.496G>T
1g.244863996C=CA1231007541HNRNPUc.312G= (p.Met104=)
n.497G=
c.96G= (p.Met32=)
n.543G=
c.12G= (p.Met4=)
n.536G=
n.496G=
1g.244863996C>GCA345497400HNRNPUc.312G>C (p.Met104Ile)
n.497G>C
c.96G>C (p.Met32Ile)
n.543G>C
c.12G>C (p.Met4Ile)
n.536G>C
n.496G>C
1g.244863996C>TCA345497401HNRNPUc.312G>A (p.Met104Ile)
n.497G>A
c.96G>A (p.Met32Ile)
n.543G>A
c.12G>A (p.Met4Ile)
n.536G>A
n.496G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.244863997A=CA1231007542HNRNPUc.311T= (p.Met104=)
n.496T=
c.95T= (p.Met32=)
n.542T=
c.11T= (p.Met4=)
n.535T=
n.495T=
1g.244863997A>CCA345497402HNRNPUc.311T>G (p.Met104Arg)
n.496T>G
c.95T>G (p.Met32Arg)
n.542T>G
c.11T>G (p.Met4Arg)
n.535T>G
n.495T>G
1g.244863997A>GCA345497404HNRNPUc.311T>C (p.Met104Thr)
n.496T>C
c.95T>C (p.Met32Thr)
n.542T>C
c.11T>C (p.Met4Thr)
n.535T>C
n.495T>C
1g.244863997A>TCA345497403HNRNPUc.311T>A (p.Met104Lys)
n.496T>A
c.95T>A (p.Met32Lys)
n.542T>A
c.11T>A (p.Met4Lys)
n.535T>A
n.495T>A
 dbSNP gnomAD v2 gnomAD v4
1g.244863998T>ACA345497405HNRNPUc.310A>T (p.Met104Leu)
n.495A>T
c.94A>T (p.Met32Leu)
n.541A>T
c.10A>T (p.Met4Leu)
n.534A>T
n.494A>T
1g.244863998T>CCA345497406HNRNPUc.310A>G (p.Met104Val)
n.495A>G
c.94A>G (p.Met32Val)
n.541A>G
c.10A>G (p.Met4Val)
n.534A>G
n.494A>G
1g.244863998T>GCA345497407HNRNPUc.310A>C (p.Met104Leu)
n.495A>C
c.94A>C (p.Met32Leu)
n.541A>C
c.10A>C (p.Met4Leu)
n.534A>C
n.494A>C
1g.244863998dupCA2580063542HNRNPUc.310dup (p.Met104AsnfsTer?)
n.495dup
c.94dup (p.Met32AsnfsTer?)
n.541dup
c.10dup (p.Met4AsnfsTer?)
n.534dup
n.494dup
 ClinVar
1g.244863999C>ACA345497408HNRNPUc.309G>T (p.Gln103His)
n.494G>T
c.93G>T (p.Gln31His)
n.540G>T
c.9G>T (p.Gln3His)
n.533G>T
n.493G>T
1g.244863999C>GCA345497409HNRNPUc.309G>C (p.Gln103His)
n.494G>C
c.93G>C (p.Gln31His)
n.540G>C
c.9G>C (p.Gln3His)
n.533G>C
n.493G>C
1g.244863999C>TCA424403515HNRNPUc.309G>A (p.Gln103=)
n.494G>A
c.93G>A (p.Gln31=)
n.540G>A
c.9G>A (p.Gln3=)
n.533G>A
n.493G>A
1g.244864000T>ACA345497410HNRNPUc.308A>T (p.Gln103Leu)
n.493A>T
c.92A>T (p.Gln31Leu)
n.539A>T
c.8A>T (p.Gln3Leu)
n.532A>T
n.492A>T
 dbSNP gnomAD v2 gnomAD v4
1g.244864000T>CCA345497411HNRNPUc.308A>G (p.Gln103Arg)
n.493A>G
c.92A>G (p.Gln31Arg)
n.539A>G
c.8A>G (p.Gln3Arg)
n.532A>G
n.492A>G
1g.244864000T>GCA345497412HNRNPUc.308A>C (p.Gln103Pro)
n.493A>C
c.92A>C (p.Gln31Pro)
n.539A>C
c.8A>C (p.Gln3Pro)
n.532A>C
n.492A>C
1g.244864000T=CA1231007543HNRNPUc.308A= (p.Gln103=)
n.493A=
c.92A= (p.Gln31=)
n.539A=
c.8A= (p.Gln3=)
n.532A=
n.492A=
1g.244864001G>ACA16610079HNRNPUc.307C>T (p.Gln103Ter)
n.492C>T
c.91C>T (p.Gln31Ter)
n.538C>T
c.7C>T (p.Gln3Ter)
n.531C>T
n.491C>T
 ClinVar dbSNP
1g.244864001G>CCA345497413HNRNPUc.307C>G (p.Gln103Glu)
n.492C>G
c.91C>G (p.Gln31Glu)
n.538C>G
c.7C>G (p.Gln3Glu)
n.531C>G
n.491C>G
1g.244864001G=CA1231007544HNRNPUc.307C= (p.Gln103=)
n.492C=
c.91C= (p.Gln31=)
n.538C=
c.7C= (p.Gln3=)
n.531C=
n.491C=
1g.244864001G>TCA345497414HNRNPUc.307C>A (p.Gln103Lys)
n.492C>A
c.91C>A (p.Gln31Lys)
n.538C>A
c.7C>A (p.Gln3Lys)
n.531C>A
n.491C>A
1g.244864002G>ACA424402424HNRNPUc.306C>T (p.Asp102=)
n.491C>T
c.90C>T (p.Asp30=)
n.537C>T
c.6C>T (p.Asp2=)
n.530C>T
n.490C>T
1g.244864002G>CCA345497415HNRNPUc.306C>G (p.Asp102Glu)
n.491C>G
c.90C>G (p.Asp30Glu)
n.537C>G
c.6C>G (p.Asp2Glu)
n.530C>G
n.490C>G
1g.244864002G>TCA345497416HNRNPUc.306C>A (p.Asp102Glu)
n.491C>A
c.90C>A (p.Asp30Glu)
n.537C>A
c.6C>A (p.Asp2Glu)
n.530C>A
n.490C>A
1g.244864003T>ACA345497417HNRNPUc.305A>T (p.Asp102Val)
n.490A>T
c.89A>T (p.Asp30Val)
n.536A>T
c.5A>T (p.Asp2Val)
n.529A>T
n.489A>T
1g.244864003T>CCA345497418HNRNPUc.305A>G (p.Asp102Gly)
n.490A>G
c.89A>G (p.Asp30Gly)
n.536A>G
c.5A>G (p.Asp2Gly)
n.529A>G
n.489A>G
1g.244864003T>GCA345497419HNRNPUc.305A>C (p.Asp102Ala)
n.490A>C
c.89A>C (p.Asp30Ala)
n.536A>C
c.5A>C (p.Asp2Ala)
n.529A>C
n.489A>C
1g.244864004C>ACA345497420HNRNPUc.304G>T (p.Asp102Tyr)
n.489G>T
c.88G>T (p.Asp30Tyr)
n.535G>T
c.4G>T (p.Asp2Tyr)
n.528G>T
n.488G>T
 gnomAD v4
1g.244864004C>GCA345497421HNRNPUc.304G>C (p.Asp102His)
n.489G>C
c.88G>C (p.Asp30His)
n.535G>C
c.4G>C (p.Asp2His)
n.528G>C
n.488G>C
1g.244864004C>TCA345497422HNRNPUc.304G>A (p.Asp102Asn)
n.489G>A
c.88G>A (p.Asp30Asn)
n.535G>A
c.4G>A (p.Asp2Asn)
n.528G>A
n.488G>A
 COSMIC COSMIC

Number of alleles fetched