| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1001530_1001532del | CA2578014040 | IDUA | c.556_558del (p.His186del) n.612_614del c.415_417del (p.His139del) c.516_518del c.349_351del (p.His117del) c.373_375del (p.His125del) c.160_162del (p.His54del) n.456_458del n.644_646del c.268_270del (p.His90del) n.625_627del c.-433_-431del (n.-433_-431del) | gnomAD v4 |
| 4 | g.1001528A= | CA1433067413 | IDUA | c.554A= (p.His185=) n.610A= c.413A= (p.His138=) c.514A= c.347A= (p.His116=) c.371A= (p.His124=) c.158A= (p.His53=) n.454A= n.642A= c.266A= (p.His89=) n.623A= c.-435A= (n.-435A=) | |
| 4 | g.1001528A>C | CA16618019 | IDUA | c.554A>C (p.His185Pro) n.610A>C c.413A>C (p.His138Pro) c.514A>C c.347A>C (p.His116Pro) c.371A>C (p.His124Pro) c.158A>C (p.His53Pro) n.454A>C n.642A>C c.266A>C (p.His89Pro) n.623A>C c.-435A>C (n.-435A>C) | ClinVar dbSNP |
| 4 | g.1001528A>G | CA355961757 | IDUA | c.554A>G (p.His185Arg) n.610A>G c.413A>G (p.His138Arg) c.514A>G c.347A>G (p.His116Arg) c.371A>G (p.His124Arg) c.158A>G (p.His53Arg) n.454A>G n.642A>G c.266A>G (p.His89Arg) n.623A>G c.-435A>G (n.-435A>G) | gnomAD v4 |
| 4 | g.1001528A>T | CA355961758 | IDUA | c.554A>T (p.His185Leu) n.610A>T c.413A>T (p.His138Leu) c.514A>T c.347A>T (p.His116Leu) c.371A>T (p.His124Leu) c.158A>T (p.His53Leu) n.454A>T n.642A>T c.266A>T (p.His89Leu) n.623A>T c.-435A>T (n.-435A>T) | |
| 4 | g.1001529C>A | CA355961759 | IDUA | c.555C>A (p.His185Gln) n.611C>A c.414C>A (p.His138Gln) c.515C>A c.348C>A (p.His116Gln) c.372C>A (p.His124Gln) c.159C>A (p.His53Gln) n.455C>A n.643C>A c.267C>A (p.His89Gln) n.624C>A c.-434C>A (n.-434C>A) | |
| 4 | g.1001529C>G | CA355961760 | IDUA | c.555C>G (p.His185Gln) n.611C>G c.414C>G (p.His138Gln) c.515C>G c.348C>G (p.His116Gln) c.372C>G (p.His124Gln) c.159C>G (p.His53Gln) n.455C>G n.643C>G c.267C>G (p.His89Gln) n.624C>G c.-434C>G (n.-434C>G) | |
| 4 | g.1001529C>T | CA437918921 | IDUA | c.555C>T (p.His185=) n.611C>T c.414C>T (p.His138=) c.515C>T c.348C>T (p.His116=) c.372C>T (p.His124=) c.159C>T (p.His53=) n.455C>T n.643C>T c.267C>T (p.His89=) n.624C>T c.-434C>T (n.-434C>T) | |
| 4 | g.1001530C>A | CA355961762 | IDUA | c.556C>A (p.His186Asn) n.612C>A c.415C>A (p.His139Asn) c.516C>A c.349C>A (p.His117Asn) c.373C>A (p.His125Asn) c.160C>A (p.His54Asn) n.456C>A n.644C>A c.268C>A (p.His90Asn) n.625C>A c.-433C>A (n.-433C>A) | dbSNP gnomAD v2 |
| 4 | g.1001530C= | CA1433067418 | IDUA | c.556C= (p.His186=) n.612C= c.415C= (p.His139=) c.516C= c.349C= (p.His117=) c.373C= (p.His125=) c.160C= (p.His54=) n.456C= n.644C= c.268C= (p.His90=) n.625C= c.-433C= (n.-433C=) | |
| 4 | g.1001530C>G | CA355961763 | IDUA | c.556C>G (p.His186Asp) n.612C>G c.415C>G (p.His139Asp) c.516C>G c.349C>G (p.His117Asp) c.373C>G (p.His125Asp) c.160C>G (p.His54Asp) n.456C>G n.644C>G c.268C>G (p.His90Asp) n.625C>G c.-433C>G (n.-433C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.1001530C>T | CA355961761 | IDUA | c.556C>T (p.His186Tyr) n.612C>T c.415C>T (p.His139Tyr) c.516C>T c.349C>T (p.His117Tyr) c.373C>T (p.His125Tyr) c.160C>T (p.His54Tyr) n.456C>T n.644C>T c.268C>T (p.His90Tyr) n.625C>T c.-433C>T (n.-433C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1001531A= | CA1433067423 | IDUA | c.557A= (p.His186=) n.613A= c.416A= (p.His139=) c.517A= c.350A= (p.His117=) c.374A= (p.His125=) c.161A= (p.His54=) n.457A= n.645A= c.269A= (p.His90=) n.626A= c.-432A= (n.-432A=) | |
| 4 | g.1001531A>C | CA355961765 | IDUA | c.557A>C (p.His186Pro) n.613A>C c.416A>C (p.His139Pro) c.517A>C c.350A>C (p.His117Pro) c.374A>C (p.His125Pro) c.161A>C (p.His54Pro) n.457A>C n.645A>C c.269A>C (p.His90Pro) n.626A>C c.-432A>C (n.-432A>C) | |
| 4 | g.1001531A>G | CA2801992 | IDUA | c.557A>G (p.His186Arg) n.613A>G c.416A>G (p.His139Arg) c.517A>G c.350A>G (p.His117Arg) c.374A>G (p.His125Arg) c.161A>G (p.His54Arg) n.457A>G n.645A>G c.269A>G (p.His90Arg) n.626A>G c.-432A>G (n.-432A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1001531A>T | CA355961764 | IDUA | c.557A>T (p.His186Leu) n.613A>T c.416A>T (p.His139Leu) c.517A>T c.350A>T (p.His117Leu) c.374A>T (p.His125Leu) c.161A>T (p.His54Leu) n.457A>T n.645A>T c.269A>T (p.His90Leu) n.626A>T c.-432A>T (n.-432A>T) | |
| 4 | g.1001532C>A | CA355961766 | IDUA | c.558C>A (p.His186Gln) n.614C>A c.417C>A (p.His139Gln) c.518C>A c.351C>A (p.His117Gln) c.375C>A (p.His125Gln) c.162C>A (p.His54Gln) n.458C>A n.646C>A c.270C>A (p.His90Gln) n.627C>A c.-431C>A (n.-431C>A) | gnomAD v4 |
| 4 | g.1001532C= | CA1433067430 | IDUA | c.558C= (p.His186=) n.614C= c.417C= (p.His139=) c.518C= c.351C= (p.His117=) c.375C= (p.His125=) c.162C= (p.His54=) n.458C= n.646C= c.270C= (p.His90=) n.627C= c.-431C= (n.-431C=) | |
| 4 | g.1001532C>G | CA355961767 | IDUA | c.558C>G (p.His186Gln) n.614C>G c.417C>G (p.His139Gln) c.518C>G c.351C>G (p.His117Gln) c.375C>G (p.His125Gln) c.162C>G (p.His54Gln) n.458C>G n.646C>G c.270C>G (p.His90Gln) n.627C>G c.-431C>G (n.-431C>G) | |
| 4 | g.1001532C>T | CA437918922 | IDUA | c.558C>T (p.His186=) n.614C>T c.417C>T (p.His139=) c.518C>T c.351C>T (p.His117=) c.375C>T (p.His125=) c.162C>T (p.His54=) n.458C>T n.646C>T c.270C>T (p.His90=) n.627C>T c.-431C>T (n.-431C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.1001533G>A | CA355961768 | IDUA | c.559G>A (p.Asp187Asn) n.615G>A c.418G>A (p.Asp140Asn) c.519G>A c.352G>A (p.Asp118Asn) c.376G>A (p.Asp126Asn) c.163G>A (p.Asp55Asn) n.459G>A n.647G>A c.271G>A (p.Asp91Asn) n.628G>A c.-430G>A (n.-430G>A) | |
| 4 | g.1001533G>C | CA355961769 | IDUA | c.559G>C (p.Asp187His) n.615G>C c.418G>C (p.Asp140His) c.519G>C c.352G>C (p.Asp118His) c.376G>C (p.Asp126His) c.163G>C (p.Asp55His) n.459G>C n.647G>C c.271G>C (p.Asp91His) n.628G>C c.-430G>C (n.-430G>C) | gnomAD v4 |
| 4 | g.1001533G>T | CA355961770 | IDUA | c.559G>T (p.Asp187Tyr) n.615G>T c.418G>T (p.Asp140Tyr) c.519G>T c.352G>T (p.Asp118Tyr) c.376G>T (p.Asp126Tyr) c.163G>T (p.Asp55Tyr) n.459G>T n.647G>T c.271G>T (p.Asp91Tyr) n.628G>T c.-430G>T (n.-430G>T) | |
| 4 | g.1001534A>C | CA355961771 | IDUA | c.560A>C (p.Asp187Ala) n.616A>C c.419A>C (p.Asp140Ala) c.520A>C c.353A>C (p.Asp118Ala) c.377A>C (p.Asp126Ala) c.164A>C (p.Asp55Ala) n.460A>C n.648A>C c.272A>C (p.Asp91Ala) n.629A>C c.-429A>C (n.-429A>C) | |
| 4 | g.1001534A>G | CA355961772 | IDUA | c.560A>G (p.Asp187Gly) n.616A>G c.419A>G (p.Asp140Gly) c.520A>G c.353A>G (p.Asp118Gly) c.377A>G (p.Asp126Gly) c.164A>G (p.Asp55Gly) n.460A>G n.648A>G c.272A>G (p.Asp91Gly) n.629A>G c.-429A>G (n.-429A>G) | gnomAD v4 |
| 4 | g.1001534A>T | CA355961773 | IDUA | c.560A>T (p.Asp187Val) n.616A>T c.419A>T (p.Asp140Val) c.520A>T c.353A>T (p.Asp118Val) c.377A>T (p.Asp126Val) c.164A>T (p.Asp55Val) n.460A>T n.648A>T c.272A>T (p.Asp91Val) n.629A>T c.-429A>T (n.-429A>T) | |
| 4 | g.1001535C>A | CA355961775 | IDUA | c.561C>A (p.Asp187Glu) n.617C>A c.420C>A (p.Asp140Glu) c.521C>A c.354C>A (p.Asp118Glu) c.378C>A (p.Asp126Glu) c.165C>A (p.Asp55Glu) n.461C>A n.649C>A c.273C>A (p.Asp91Glu) n.630C>A c.-428C>A (n.-428C>A) | |
| 4 | g.1001535C= | CA1433067436 | IDUA | c.561C= (p.Asp187=) n.617C= c.420C= (p.Asp140=) c.521C= c.354C= (p.Asp118=) c.378C= (p.Asp126=) c.165C= (p.Asp55=) n.461C= n.649C= c.273C= (p.Asp91=) n.630C= c.-428C= (n.-428C=) | |
| 4 | g.1001535C>G | CA355961774 | IDUA | c.561C>G (p.Asp187Glu) n.617C>G c.420C>G (p.Asp140Glu) c.521C>G c.354C>G (p.Asp118Glu) c.378C>G (p.Asp126Glu) c.165C>G (p.Asp55Glu) n.461C>G n.649C>G c.273C>G (p.Asp91Glu) n.630C>G c.-428C>G (n.-428C>G) | |
| 4 | g.1001535C>T | CA2801993 | IDUA | c.561C>T (p.Asp187=) n.617C>T c.420C>T (p.Asp140=) c.521C>T c.354C>T (p.Asp118=) c.378C>T (p.Asp126=) c.165C>T (p.Asp55=) n.461C>T n.649C>T c.273C>T (p.Asp91=) n.630C>T c.-428C>T (n.-428C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1001536T>A | CA355961776 | IDUA | c.562T>A (p.Phe188Ile) n.618T>A c.421T>A (p.Phe141Ile) c.522T>A c.355T>A (p.Phe119Ile) c.379T>A (p.Phe127Ile) c.166T>A (p.Phe56Ile) n.462T>A n.650T>A c.274T>A (p.Phe92Ile) n.631T>A c.-427T>A (n.-427T>A) | |
| 4 | g.1001536T>C | CA355961777 | IDUA | c.562T>C (p.Phe188Leu) n.618T>C c.421T>C (p.Phe141Leu) c.522T>C c.355T>C (p.Phe119Leu) c.379T>C (p.Phe127Leu) c.166T>C (p.Phe56Leu) n.462T>C n.650T>C c.274T>C (p.Phe92Leu) n.631T>C c.-427T>C (n.-427T>C) | |
| 4 | g.1001536T>G | CA355961778 | IDUA | c.562T>G (p.Phe188Val) n.618T>G c.421T>G (p.Phe141Val) c.522T>G c.355T>G (p.Phe119Val) c.379T>G (p.Phe127Val) c.166T>G (p.Phe56Val) n.462T>G n.650T>G c.274T>G (p.Phe92Val) n.631T>G c.-427T>G (n.-427T>G) | |
| 4 | g.1001537T>A | CA355961779 | IDUA | c.563T>A (p.Phe188Tyr) n.619T>A c.422T>A (p.Phe141Tyr) c.523T>A c.356T>A (p.Phe119Tyr) c.380T>A (p.Phe127Tyr) c.167T>A (p.Phe56Tyr) n.463T>A n.651T>A c.275T>A (p.Phe92Tyr) n.632T>A c.-426T>A (n.-426T>A) | |
| 4 | g.1001537T>C | CA355961780 | IDUA | c.563T>C (p.Phe188Ser) n.619T>C c.422T>C (p.Phe141Ser) c.523T>C c.356T>C (p.Phe119Ser) c.380T>C (p.Phe127Ser) c.167T>C (p.Phe56Ser) n.463T>C n.651T>C c.275T>C (p.Phe92Ser) n.632T>C c.-426T>C (n.-426T>C) | |
| 4 | g.1001537T>G | CA355961781 | IDUA | c.563T>G (p.Phe188Cys) n.619T>G c.422T>G (p.Phe141Cys) c.523T>G c.356T>G (p.Phe119Cys) c.380T>G (p.Phe127Cys) c.167T>G (p.Phe56Cys) n.463T>G n.651T>G c.275T>G (p.Phe92Cys) n.632T>G c.-426T>G (n.-426T>G) | dbSNP |
| 4 | g.1001537T= | CA1433067440 | IDUA | c.563T= (p.Phe188=) n.619T= c.422T= (p.Phe141=) c.523T= c.356T= (p.Phe119=) c.380T= (p.Phe127=) c.167T= (p.Phe56=) n.463T= n.651T= c.275T= (p.Phe92=) n.632T= c.-426T= (n.-426T=) | |
| 4 | g.1001537_1001551delinsTTGACAACGTCTCCA | CA1433067439 | IDUA | c.563_577delinsTTGACAACGTCTCCA (p.Phe188=) n.619_633delinsTTGACAACGTCTCCA c.422_436delinsTTGACAACGTCTCCA (p.Phe141=) c.523_537delinsTTGACAACGTCTCCA c.356_370delinsTTGACAACGTCTCCA (p.Phe119=) c.380_394delinsTTGACAACGTCTCCA (p.Phe127=) c.167_181delinsTTGACAACGTCTCCA (p.Phe56=) n.463_477delinsTTGACAACGTCTCCA n.651_665delinsTTGACAACGTCTCCA c.275_289delinsTTGACAACGTCTCCA (p.Phe92=) n.632_646delinsTTGACAACGTCTCCA c.-426_-412delinsTTGACAACGTCTCCA (n.-426_-412delinsTTGACAACGTCTCCA) | |
| 4 | g.1001538T>A | CA355961782 | IDUA | c.564T>A (p.Phe188Leu) n.620T>A c.423T>A (p.Phe141Leu) c.524T>A c.357T>A (p.Phe119Leu) c.381T>A (p.Phe127Leu) c.168T>A (p.Phe56Leu) n.464T>A n.652T>A c.276T>A (p.Phe92Leu) n.633T>A c.-425T>A (n.-425T>A) | |
| 4 | g.1001538T>C | CA437918923 | IDUA | c.564T>C (p.Phe188=) n.620T>C c.423T>C (p.Phe141=) c.524T>C c.357T>C (p.Phe119=) c.381T>C (p.Phe127=) c.168T>C (p.Phe56=) n.464T>C n.652T>C c.276T>C (p.Phe92=) n.633T>C c.-425T>C (n.-425T>C) | |
| 4 | g.1001538T>G | CA355961783 | IDUA | c.564T>G (p.Phe188Leu) n.620T>G c.423T>G (p.Phe141Leu) c.524T>G c.357T>G (p.Phe119Leu) c.381T>G (p.Phe127Leu) c.168T>G (p.Phe56Leu) n.464T>G n.652T>G c.276T>G (p.Phe92Leu) n.633T>G c.-425T>G (n.-425T>G) | |
| 4 | g.1001542_1001555del | CA2801994 | IDUA | c.568_581del (p.Asn190HisfsTer?) n.624_637del c.427_440del (p.Asn143HisfsTer?) c.528_541del c.361_374del (p.Asn121HisfsTer?) c.385_398del (p.Asn129HisfsTer?) c.172_185del (p.Asn58HisfsTer?) n.468_481del n.656_669del c.280_293del (p.Asn94HisfsTer?) n.637_650del c.-421_-408del (n.-421_-408del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1001539G>A | CA355961784 | IDUA | c.565G>A (p.Asp189Asn) n.621G>A c.424G>A (p.Asp142Asn) c.525G>A c.358G>A (p.Asp120Asn) c.382G>A (p.Asp128Asn) c.169G>A (p.Asp57Asn) n.465G>A n.653G>A c.277G>A (p.Asp93Asn) n.634G>A c.-424G>A (n.-424G>A) | |
| 4 | g.1001539G>C | CA355961785 | IDUA | c.565G>C (p.Asp189His) n.621G>C c.424G>C (p.Asp142His) c.525G>C c.358G>C (p.Asp120His) c.382G>C (p.Asp128His) c.169G>C (p.Asp57His) n.465G>C n.653G>C c.277G>C (p.Asp93His) n.634G>C c.-424G>C (n.-424G>C) | COSMIC COSMIC |
| 4 | g.1001539G>T | CA355961786 | IDUA | c.565G>T (p.Asp189Tyr) n.621G>T c.424G>T (p.Asp142Tyr) c.525G>T c.358G>T (p.Asp120Tyr) c.382G>T (p.Asp128Tyr) c.169G>T (p.Asp57Tyr) n.465G>T n.653G>T c.277G>T (p.Asp93Tyr) n.634G>T c.-424G>T (n.-424G>T) | gnomAD v4 |
| 4 | g.1001540A>C | CA355961788 | IDUA | c.566A>C (p.Asp189Ala) n.622A>C c.425A>C (p.Asp142Ala) c.526A>C c.359A>C (p.Asp120Ala) c.383A>C (p.Asp128Ala) c.170A>C (p.Asp57Ala) n.466A>C n.654A>C c.278A>C (p.Asp93Ala) n.635A>C c.-423A>C (n.-423A>C) | |
| 4 | g.1001540A>G | CA355961789 | IDUA | c.566A>G (p.Asp189Gly) n.622A>G c.425A>G (p.Asp142Gly) c.526A>G c.359A>G (p.Asp120Gly) c.383A>G (p.Asp128Gly) c.170A>G (p.Asp57Gly) n.466A>G n.654A>G c.278A>G (p.Asp93Gly) n.635A>G c.-423A>G (n.-423A>G) | |
| 4 | g.1001540A>T | CA355961787 | IDUA | c.566A>T (p.Asp189Val) n.622A>T c.425A>T (p.Asp142Val) c.526A>T c.359A>T (p.Asp120Val) c.383A>T (p.Asp128Val) c.170A>T (p.Asp57Val) n.466A>T n.654A>T c.278A>T (p.Asp93Val) n.635A>T c.-423A>T (n.-423A>T) | |
| 4 | g.1001541C>A | CA355961790 | IDUA | c.567C>A (p.Asp189Glu) n.623C>A c.426C>A (p.Asp142Glu) c.527C>A c.360C>A (p.Asp120Glu) c.384C>A (p.Asp128Glu) c.171C>A (p.Asp57Glu) n.467C>A n.655C>A c.279C>A (p.Asp93Glu) n.636C>A c.-422C>A (n.-422C>A) | |
| 4 | g.1001541C>G | CA355961791 | IDUA | c.567C>G (p.Asp189Glu) n.623C>G c.426C>G (p.Asp142Glu) c.527C>G c.360C>G (p.Asp120Glu) c.384C>G (p.Asp128Glu) c.171C>G (p.Asp57Glu) n.467C>G n.655C>G c.279C>G (p.Asp93Glu) n.636C>G c.-422C>G (n.-422C>G) |