Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.1001790G>ACA355962092IDUAc.701G>A (p.Ser234Asn)
n.757G>A
c.560G>A (p.Ser187Asn)
c.494G>A (p.Ser165Asn)
c.518G>A (p.Ser173Asn)
c.305G>A (p.Ser102Asn)
n.601G>A
n.789G>A
c.413G>A (p.Ser138Asn)
n.770G>A
c.-260G>A (n.-260G>A)
 gnomAD v4
4g.1001790G>CCA2802058IDUAc.701G>C (p.Ser234Thr)
n.757G>C
c.560G>C (p.Ser187Thr)
c.494G>C (p.Ser165Thr)
c.518G>C (p.Ser173Thr)
c.305G>C (p.Ser102Thr)
n.601G>C
n.789G>C
c.413G>C (p.Ser138Thr)
n.770G>C
c.-260G>C (n.-260G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001790G=CA1433067932IDUAc.701G= (p.Ser234=)
n.757G=
c.560G= (p.Ser187=)
c.494G= (p.Ser165=)
c.518G= (p.Ser173=)
c.305G= (p.Ser102=)
n.601G=
n.789G=
c.413G= (p.Ser138=)
n.770G=
c.-260G= (n.-260G=)
4g.1001790G>TCA355962093IDUAc.701G>T (p.Ser234Ile)
n.757G>T
c.560G>T (p.Ser187Ile)
c.494G>T (p.Ser165Ile)
c.518G>T (p.Ser173Ile)
c.305G>T (p.Ser102Ile)
n.601G>T
n.789G>T
c.413G>T (p.Ser138Ile)
n.770G>T
c.-260G>T (n.-260G>T)
 gnomAD v4
4g.1001791C>ACA355962094IDUAc.702C>A (p.Ser234Arg)
n.758C>A
c.561C>A (p.Ser187Arg)
c.495C>A (p.Ser165Arg)
c.519C>A (p.Ser173Arg)
c.306C>A (p.Ser102Arg)
n.602C>A
n.790C>A
c.414C>A (p.Ser138Arg)
n.771C>A
c.-259C>A (n.-259C>A)
 dbSNP gnomAD v3 gnomAD v4
4g.1001791C=CA1433067935IDUAc.702C= (p.Ser234=)
n.758C=
c.561C= (p.Ser187=)
c.495C= (p.Ser165=)
c.519C= (p.Ser173=)
c.306C= (p.Ser102=)
n.602C=
n.790C=
c.414C= (p.Ser138=)
n.771C=
c.-259C= (n.-259C=)
4g.1001791C>GCA355962095IDUAc.702C>G (p.Ser234Arg)
n.758C>G
c.561C>G (p.Ser187Arg)
c.495C>G (p.Ser165Arg)
c.519C>G (p.Ser173Arg)
c.306C>G (p.Ser102Arg)
n.602C>G
n.790C>G
c.414C>G (p.Ser138Arg)
n.771C>G
c.-259C>G (n.-259C>G)
4g.1001791C>TCA438057313IDUAc.702C>T (p.Ser234=)
n.758C>T
c.561C>T (p.Ser187=)
c.495C>T (p.Ser165=)
c.519C>T (p.Ser173=)
c.306C>T (p.Ser102=)
n.602C>T
n.790C>T
c.414C>T (p.Ser138=)
n.771C>T
c.-259C>T (n.-259C>T)
 ClinVar gnomAD v4
4g.1001792T>ACA355962098IDUAc.703T>A (p.Trp235Arg)
n.759T>A
c.562T>A (p.Trp188Arg)
c.496T>A (p.Trp166Arg)
c.520T>A (p.Trp174Arg)
c.307T>A (p.Trp103Arg)
n.603T>A
n.791T>A
c.415T>A (p.Trp139Arg)
n.772T>A
c.-258T>A (n.-258T>A)
4g.1001792T>CCA355962097IDUAc.703T>C (p.Trp235Arg)
n.759T>C
c.562T>C (p.Trp188Arg)
c.496T>C (p.Trp166Arg)
c.520T>C (p.Trp174Arg)
c.307T>C (p.Trp103Arg)
n.603T>C
n.791T>C
c.415T>C (p.Trp139Arg)
n.772T>C
c.-258T>C (n.-258T>C)
4g.1001792T>GCA355962096IDUAc.703T>G (p.Trp235Gly)
n.759T>G
c.562T>G (p.Trp188Gly)
c.496T>G (p.Trp166Gly)
c.520T>G (p.Trp174Gly)
c.307T>G (p.Trp103Gly)
n.603T>G
n.791T>G
c.415T>G (p.Trp139Gly)
n.772T>G
c.-258T>G (n.-258T>G)
4g.1001793G>ACA355962099IDUAc.704G>A (p.Trp235Ter)
n.760G>A
c.563G>A (p.Trp188Ter)
c.497G>A (p.Trp166Ter)
c.521G>A (p.Trp174Ter)
c.308G>A (p.Trp103Ter)
n.604G>A
n.792G>A
c.416G>A (p.Trp139Ter)
n.773G>A
c.-257G>A (n.-257G>A)
4g.1001793G>CCA355962100IDUAc.704G>C (p.Trp235Ser)
n.760G>C
c.563G>C (p.Trp188Ser)
c.497G>C (p.Trp166Ser)
c.521G>C (p.Trp174Ser)
c.308G>C (p.Trp103Ser)
n.604G>C
n.792G>C
c.416G>C (p.Trp139Ser)
n.773G>C
c.-257G>C (n.-257G>C)
4g.1001793G>TCA355962101IDUAc.704G>T (p.Trp235Leu)
n.760G>T
c.563G>T (p.Trp188Leu)
c.497G>T (p.Trp166Leu)
c.521G>T (p.Trp174Leu)
c.308G>T (p.Trp103Leu)
n.604G>T
n.792G>T
c.416G>T (p.Trp139Leu)
n.773G>T
c.-257G>T (n.-257G>T)
 gnomAD v4
4g.1001796delCA2669479557IDUAc.707del (p.Gly236AlafsTer?)
n.763del
c.566del (p.Gly189AlafsTer?)
c.500del (p.Gly167AlafsTer?)
c.524del (p.Gly175AlafsTer?)
c.311del (p.Gly104AlafsTer?)
n.607del
n.795del
c.419del (p.Gly140AlafsTer?)
n.776del
c.-254del (n.-254del)
 gnomAD v4
4g.1001794_1001796delCA2669479558IDUAc.705_707del (p.Trp235_Gly236delinsCys)
n.761_763del
c.564_566del (p.Trp188_Gly189delinsCys)
c.498_500del (p.Trp166_Gly167delinsCys)
c.522_524del (p.Trp174_Gly175delinsCys)
c.309_311del (p.Trp103_Gly104delinsCys)
n.605_607del
n.793_795del
c.417_419del (p.Trp139_Gly140delinsCys)
n.774_776del
c.-256_-254del (n.-256_-254del)
 gnomAD v4
4g.1001793_1001794insCTGCTCA2586965944IDUAc.704_705insCTGCT (p.Trp235CysfsTer?)
n.760_761insCTGCT
c.563_564insCTGCT (p.Trp188CysfsTer?)
c.497_498insCTGCT (p.Trp166CysfsTer?)
c.521_522insCTGCT (p.Trp174CysfsTer?)
c.308_309insCTGCT (p.Trp103CysfsTer?)
n.604_605insCTGCT
n.792_793insCTGCT
c.416_417insCTGCT (p.Trp139CysfsTer?)
n.773_774insCTGCT
c.-257_-256insCTGCT (n.-257_-256insCTGCT)
4g.1001794G>ACA355962102IDUAc.705G>A (p.Trp235Ter)
n.761G>A
c.564G>A (p.Trp188Ter)
c.498G>A (p.Trp166Ter)
c.522G>A (p.Trp174Ter)
c.309G>A (p.Trp103Ter)
n.605G>A
n.793G>A
c.417G>A (p.Trp139Ter)
n.774G>A
c.-256G>A (n.-256G>A)
 dbSNP
4g.1001794G>CCA355962103IDUAc.705G>C (p.Trp235Cys)
n.761G>C
c.564G>C (p.Trp188Cys)
c.498G>C (p.Trp166Cys)
c.522G>C (p.Trp174Cys)
c.309G>C (p.Trp103Cys)
n.605G>C
n.793G>C
c.417G>C (p.Trp139Cys)
n.774G>C
c.-256G>C (n.-256G>C)
4g.1001794G=CA1433067937IDUAc.705G= (p.Trp235=)
n.761G=
c.564G= (p.Trp188=)
c.498G= (p.Trp166=)
c.522G= (p.Trp174=)
c.309G= (p.Trp103=)
n.605G=
n.793G=
c.417G= (p.Trp139=)
n.774G=
c.-256G= (n.-256G=)
4g.1001794G>TCA355962104IDUAc.705G>T (p.Trp235Cys)
n.761G>T
c.564G>T (p.Trp188Cys)
c.498G>T (p.Trp166Cys)
c.522G>T (p.Trp174Cys)
c.309G>T (p.Trp103Cys)
n.605G>T
n.793G>T
c.417G>T (p.Trp139Cys)
n.774G>T
c.-256G>T (n.-256G>T)
 gnomAD v4
4g.1001795G>ACA355962105IDUAc.706G>A (p.Gly236Ser)
n.762G>A
c.565G>A (p.Gly189Ser)
c.499G>A (p.Gly167Ser)
c.523G>A (p.Gly175Ser)
c.310G>A (p.Gly104Ser)
n.606G>A
n.794G>A
c.418G>A (p.Gly140Ser)
n.775G>A
c.-255G>A (n.-255G>A)
4g.1001795G>CCA355962106IDUAc.706G>C (p.Gly236Arg)
n.762G>C
c.565G>C (p.Gly189Arg)
c.499G>C (p.Gly167Arg)
c.523G>C (p.Gly175Arg)
c.310G>C (p.Gly104Arg)
n.606G>C
n.794G>C
c.418G>C (p.Gly140Arg)
n.775G>C
c.-255G>C (n.-255G>C)
4g.1001795G>TCA355962107IDUAc.706G>T (p.Gly236Cys)
n.762G>T
c.565G>T (p.Gly189Cys)
c.499G>T (p.Gly167Cys)
c.523G>T (p.Gly175Cys)
c.310G>T (p.Gly104Cys)
n.606G>T
n.794G>T
c.418G>T (p.Gly140Cys)
n.775G>T
c.-255G>T (n.-255G>T)
4g.1001796G>ACA355962108IDUAc.707G>A (p.Gly236Asp)
n.763G>A
c.566G>A (p.Gly189Asp)
c.500G>A (p.Gly167Asp)
c.524G>A (p.Gly175Asp)
c.311G>A (p.Gly104Asp)
n.607G>A
n.795G>A
c.419G>A (p.Gly140Asp)
n.776G>A
c.-254G>A (n.-254G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.1001796G>CCA355962109IDUAc.707G>C (p.Gly236Ala)
n.763G>C
c.566G>C (p.Gly189Ala)
c.500G>C (p.Gly167Ala)
c.524G>C (p.Gly175Ala)
c.311G>C (p.Gly104Ala)
n.607G>C
n.795G>C
c.419G>C (p.Gly140Ala)
n.776G>C
c.-254G>C (n.-254G>C)
4g.1001796G=CA1433067939IDUAc.707G= (p.Gly236=)
n.763G=
c.566G= (p.Gly189=)
c.500G= (p.Gly167=)
c.524G= (p.Gly175=)
c.311G= (p.Gly104=)
n.607G=
n.795G=
c.419G= (p.Gly140=)
n.776G=
c.-254G= (n.-254G=)
4g.1001796G>TCA355962110IDUAc.707G>T (p.Gly236Val)
n.763G>T
c.566G>T (p.Gly189Val)
c.500G>T (p.Gly167Val)
c.524G>T (p.Gly175Val)
c.311G>T (p.Gly104Val)
n.607G>T
n.795G>T
c.419G>T (p.Gly140Val)
n.776G>T
c.-254G>T (n.-254G>T)
 gnomAD v4
4g.1001797C>ACA2802059IDUAc.708C>A (p.Gly236=)
n.764C>A
c.567C>A (p.Gly189=)
c.501C>A (p.Gly167=)
c.525C>A (p.Gly175=)
c.312C>A (p.Gly104=)
n.608C>A
n.796C>A
c.420C>A (p.Gly140=)
n.777C>A
c.-253C>A (n.-253C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001797C=CA1433067942IDUAc.708C= (p.Gly236=)
n.764C=
c.567C= (p.Gly189=)
c.501C= (p.Gly167=)
c.525C= (p.Gly175=)
c.312C= (p.Gly104=)
n.608C=
n.796C=
c.420C= (p.Gly140=)
n.777C=
c.-253C= (n.-253C=)
4g.1001797C>GCA438057314IDUAc.708C>G (p.Gly236=)
n.764C>G
c.567C>G (p.Gly189=)
c.501C>G (p.Gly167=)
c.525C>G (p.Gly175=)
c.312C>G (p.Gly104=)
n.608C>G
n.796C>G
c.420C>G (p.Gly140=)
n.777C>G
c.-253C>G (n.-253C>G)
4g.1001797C>TCA438057315IDUAc.708C>T (p.Gly236=)
n.764C>T
c.567C>T (p.Gly189=)
c.501C>T (p.Gly167=)
c.525C>T (p.Gly175=)
c.312C>T (p.Gly104=)
n.608C>T
n.796C>T
c.420C>T (p.Gly140=)
n.777C>T
c.-253C>T (n.-253C>T)
 gnomAD v4
4g.1001798C>ACA355962111IDUAc.709C>A (p.Leu237Ile)
n.765C>A
c.568C>A (p.Leu190Ile)
c.502C>A (p.Leu168Ile)
c.526C>A (p.Leu176Ile)
c.313C>A (p.Leu105Ile)
n.609C>A
n.797C>A
c.421C>A (p.Leu141Ile)
n.778C>A
c.-252C>A (n.-252C>A)
 gnomAD v4
4g.1001798C=CA1433067945IDUAc.709C= (p.Leu237=)
n.765C=
c.568C= (p.Leu190=)
c.502C= (p.Leu168=)
c.526C= (p.Leu176=)
c.313C= (p.Leu105=)
n.609C=
n.797C=
c.421C= (p.Leu141=)
n.778C=
c.-252C= (n.-252C=)
4g.1001798C>GCA2802061IDUAc.709C>G (p.Leu237Val)
n.765C>G
c.568C>G (p.Leu190Val)
c.502C>G (p.Leu168Val)
c.526C>G (p.Leu176Val)
c.313C>G (p.Leu105Val)
n.609C>G
n.797C>G
c.421C>G (p.Leu141Val)
n.778C>G
c.-252C>G (n.-252C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001798C>TCA2802060IDUAc.709C>T (p.Leu237Phe)
n.765C>T
c.568C>T (p.Leu190Phe)
c.502C>T (p.Leu168Phe)
c.526C>T (p.Leu176Phe)
c.313C>T (p.Leu105Phe)
n.609C>T
n.797C>T
c.421C>T (p.Leu141Phe)
n.778C>T
c.-252C>T (n.-252C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001799T>ACA2802062IDUAc.710T>A (p.Leu237His)
n.766T>A
c.569T>A (p.Leu190His)
c.503T>A (p.Leu168His)
c.527T>A (p.Leu176His)
c.314T>A (p.Leu105His)
n.610T>A
n.798T>A
c.422T>A (p.Leu141His)
n.779T>A
c.-251T>A (n.-251T>A)
 dbSNP ExAC
4g.1001799T>CCA355962112IDUAc.710T>C (p.Leu237Pro)
n.766T>C
c.569T>C (p.Leu190Pro)
c.503T>C (p.Leu168Pro)
c.527T>C (p.Leu176Pro)
c.314T>C (p.Leu105Pro)
n.610T>C
n.798T>C
c.422T>C (p.Leu141Pro)
n.779T>C
c.-251T>C (n.-251T>C)
4g.1001799T>GCA355962113IDUAc.710T>G (p.Leu237Arg)
n.766T>G
c.569T>G (p.Leu190Arg)
c.503T>G (p.Leu168Arg)
c.527T>G (p.Leu176Arg)
c.314T>G (p.Leu105Arg)
n.610T>G
n.798T>G
c.422T>G (p.Leu141Arg)
n.779T>G
c.-251T>G (n.-251T>G)
4g.1001799T=CA1433067949IDUAc.710T= (p.Leu237=)
n.766T=
c.569T= (p.Leu190=)
c.503T= (p.Leu168=)
c.527T= (p.Leu176=)
c.314T= (p.Leu105=)
n.610T=
n.798T=
c.422T= (p.Leu141=)
n.779T=
c.-251T= (n.-251T=)
4g.1001800C>ACA438057316IDUAc.711C>A (p.Leu237=)
n.767C>A
c.570C>A (p.Leu190=)
c.504C>A (p.Leu168=)
c.528C>A (p.Leu176=)
c.315C>A (p.Leu105=)
n.611C>A
n.799C>A
c.423C>A (p.Leu141=)
n.780C>A
c.-250C>A (n.-250C>A)
4g.1001800C=CA1433067953IDUAc.711C= (p.Leu237=)
n.767C=
c.570C= (p.Leu190=)
c.504C= (p.Leu168=)
c.528C= (p.Leu176=)
c.315C= (p.Leu105=)
n.611C=
n.799C=
c.423C= (p.Leu141=)
n.780C=
c.-250C= (n.-250C=)
4g.1001800C>GCA438057317IDUAc.711C>G (p.Leu237=)
n.767C>G
c.570C>G (p.Leu190=)
c.504C>G (p.Leu168=)
c.528C>G (p.Leu176=)
c.315C>G (p.Leu105=)
n.611C>G
n.799C>G
c.423C>G (p.Leu141=)
n.780C>G
c.-250C>G (n.-250C>G)
 dbSNP gnomAD v4
4g.1001800C>TCA2802063IDUAc.711C>T (p.Leu237=)
n.767C>T
c.570C>T (p.Leu190=)
c.504C>T (p.Leu168=)
c.528C>T (p.Leu176=)
c.315C>T (p.Leu105=)
n.611C>T
n.799C>T
c.423C>T (p.Leu141=)
n.780C>T
c.-250C>T (n.-250C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001801C>ACA355962114IDUAc.712C>A (p.Leu238Met)
n.768C>A
c.571C>A (p.Leu191Met)
c.505C>A (p.Leu169Met)
c.529C>A (p.Leu177Met)
c.316C>A (p.Leu106Met)
n.612C>A
n.800C>A
c.424C>A (p.Leu142Met)
n.781C>A
c.-249C>A (n.-249C>A)
 gnomAD v4
4g.1001801C>GCA355962115IDUAc.712C>G (p.Leu238Val)
n.768C>G
c.571C>G (p.Leu191Val)
c.505C>G (p.Leu169Val)
c.529C>G (p.Leu177Val)
c.316C>G (p.Leu106Val)
n.612C>G
n.800C>G
c.424C>G (p.Leu142Val)
n.781C>G
c.-249C>G (n.-249C>G)
4g.1001801C>TCA438057318IDUAc.712C>T (p.Leu238=)
n.768C>T
c.571C>T (p.Leu191=)
c.505C>T (p.Leu169=)
c.529C>T (p.Leu177=)
c.316C>T (p.Leu106=)
n.612C>T
n.800C>T
c.424C>T (p.Leu142=)
n.781C>T
c.-249C>T (n.-249C>T)
 ClinVar
4g.1001802T>ACA2802065IDUAc.713T>A (p.Leu238Gln)
n.769T>A
c.572T>A (p.Leu191Gln)
c.506T>A (p.Leu169Gln)
c.530T>A (p.Leu177Gln)
c.317T>A (p.Leu106Gln)
n.613T>A
n.801T>A
c.425T>A (p.Leu142Gln)
n.782T>A
c.-248T>A (n.-248T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001802T>CCA355962116IDUAc.713T>C (p.Leu238Pro)
n.769T>C
c.572T>C (p.Leu191Pro)
c.506T>C (p.Leu169Pro)
c.530T>C (p.Leu177Pro)
c.317T>C (p.Leu106Pro)
n.613T>C
n.801T>C
c.425T>C (p.Leu142Pro)
n.782T>C
c.-248T>C (n.-248T>C)
 ClinVar dbSNP gnomAD v4
4g.1001802T>GCA2802064IDUAc.713T>G (p.Leu238Arg)
n.769T>G
c.572T>G (p.Leu191Arg)
c.506T>G (p.Leu169Arg)
c.530T>G (p.Leu177Arg)
c.317T>G (p.Leu106Arg)
n.613T>G
n.801T>G
c.425T>G (p.Leu142Arg)
n.782T>G
c.-248T>G (n.-248T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001802T=CA1433067959IDUAc.713T= (p.Leu238=)
n.769T=
c.572T= (p.Leu191=)
c.506T= (p.Leu169=)
c.530T= (p.Leu177=)
c.317T= (p.Leu106=)
n.613T=
n.801T=
c.425T= (p.Leu142=)
n.782T=
c.-248T= (n.-248T=)
4g.1001803G>ACA438057319IDUAc.714G>A (p.Leu238=)
n.770G>A
c.573G>A (p.Leu191=)
c.507G>A (p.Leu169=)
c.531G>A (p.Leu177=)
c.318G>A (p.Leu106=)
n.614G>A
n.802G>A
c.426G>A (p.Leu142=)
n.783G>A
c.-247G>A (n.-247G>A)
4g.1001803G>CCA438057320IDUAc.714G>C (p.Leu238=)
n.770G>C
c.573G>C (p.Leu191=)
c.507G>C (p.Leu169=)
c.531G>C (p.Leu177=)
c.318G>C (p.Leu106=)
n.614G>C
n.802G>C
c.426G>C (p.Leu142=)
n.783G>C
c.-247G>C (n.-247G>C)
4g.1001803G=CA1433067967IDUAc.714G= (p.Leu238=)
n.770G=
c.573G= (p.Leu191=)
c.507G= (p.Leu169=)
c.531G= (p.Leu177=)
c.318G= (p.Leu106=)
n.614G=
n.802G=
c.426G= (p.Leu142=)
n.783G=
c.-247G= (n.-247G=)
4g.1001803G>TCA438057321IDUAc.714G>T (p.Leu238=)
n.770G>T
c.573G>T (p.Leu191=)
c.507G>T (p.Leu169=)
c.531G>T (p.Leu177=)
c.318G>T (p.Leu106=)
n.614G>T
n.802G>T
c.426G>T (p.Leu142=)
n.783G>T
c.-247G>T (n.-247G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1001803_1001814delinsGCGCCACTGCCACA1433067966IDUAc.714_725delinsGCGCCACTGCCA (p.Leu238=)
n.770_781delinsGCGCCACTGCCA
c.573_584delinsGCGCCACTGCCA (p.Leu191=)
c.507_518delinsGCGCCACTGCCA (p.Leu169=)
c.531_542delinsGCGCCACTGCCA (p.Leu177=)
c.318_329delinsGCGCCACTGCCA (p.Leu106=)
n.614_625delinsGCGCCACTGCCA
n.802_813delinsGCGCCACTGCCA
c.426_437delinsGCGCCACTGCCA (p.Leu142=)
n.783_794delinsGCGCCACTGCCA
c.-247_-236delinsGCGCCACTGCCA (n.-247_-236delinsGCGCCACTGCCA)
4g.1001804C>ACA355962117IDUAc.715C>A (p.Arg239Ser)
n.771C>A
c.574C>A (p.Arg192Ser)
c.508C>A (p.Arg170Ser)
c.532C>A (p.Arg178Ser)
c.319C>A (p.Arg107Ser)
n.615C>A
n.803C>A
c.427C>A (p.Arg143Ser)
n.784C>A
c.-246C>A (n.-246C>A)
 ClinVar dbSNP gnomAD v4
4g.1001804C=CA1433067975IDUAc.715C= (p.Arg239=)
n.771C=
c.574C= (p.Arg192=)
c.508C= (p.Arg170=)
c.532C= (p.Arg178=)
c.319C= (p.Arg107=)
n.615C=
n.803C=
c.427C= (p.Arg143=)
n.784C=
c.-246C= (n.-246C=)
4g.1001804C>GCA355962118IDUAc.715C>G (p.Arg239Gly)
n.771C>G
c.574C>G (p.Arg192Gly)
c.508C>G (p.Arg170Gly)
c.532C>G (p.Arg178Gly)
c.319C>G (p.Arg107Gly)
n.615C>G
n.803C>G
c.427C>G (p.Arg143Gly)
n.784C>G
c.-246C>G (n.-246C>G)
 gnomAD v4
4g.1001804C>TCA355962119IDUAc.715C>T (p.Arg239Cys)
n.771C>T
c.574C>T (p.Arg192Cys)
c.508C>T (p.Arg170Cys)
c.532C>T (p.Arg178Cys)
c.319C>T (p.Arg107Cys)
n.615C>T
n.803C>T
c.427C>T (p.Arg143Cys)
n.784C>T
c.-246C>T (n.-246C>T)
 gnomAD v4 COSMIC COSMIC
4g.1001806_1001816delCA549264510IDUAc.717_727del (p.His240ArgfsTer?)
n.773_783del
c.576_586del (p.His193ArgfsTer?)
c.510_520del (p.His171ArgfsTer?)
c.534_544del (p.His179ArgfsTer?)
c.321_331del (p.His108ArgfsTer?)
n.617_627del
n.805_815del
c.429_439del (p.His144ArgfsTer?)
n.786_796del
c.-244_-234del (n.-244_-234del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1001805G>ACA355962120IDUAc.716G>A (p.Arg239His)
n.772G>A
c.575G>A (p.Arg192His)
c.509G>A (p.Arg170His)
c.533G>A (p.Arg178His)
c.320G>A (p.Arg107His)
n.616G>A
n.804G>A
c.428G>A (p.Arg143His)
n.785G>A
c.-245G>A (n.-245G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.1001805G>CCA355962121IDUAc.716G>C (p.Arg239Pro)
n.772G>C
c.575G>C (p.Arg192Pro)
c.509G>C (p.Arg170Pro)
c.533G>C (p.Arg178Pro)
c.320G>C (p.Arg107Pro)
n.616G>C
n.804G>C
c.428G>C (p.Arg143Pro)
n.785G>C
c.-245G>C (n.-245G>C)
 gnomAD v4
4g.1001805G=CA1433067981IDUAc.716G= (p.Arg239=)
n.772G=
c.575G= (p.Arg192=)
c.509G= (p.Arg170=)
c.533G= (p.Arg178=)
c.320G= (p.Arg107=)
n.616G=
n.804G=
c.428G= (p.Arg143=)
n.785G=
c.-245G= (n.-245G=)
4g.1001805G>TCA355962122IDUAc.716G>T (p.Arg239Leu)
n.772G>T
c.575G>T (p.Arg192Leu)
c.509G>T (p.Arg170Leu)
c.533G>T (p.Arg178Leu)
c.320G>T (p.Arg107Leu)
n.616G>T
n.804G>T
c.428G>T (p.Arg143Leu)
n.785G>T
c.-245G>T (n.-245G>T)
 gnomAD v4
4g.1001806C>ACA438057322IDUAc.717C>A (p.Arg239=)
n.773C>A
c.576C>A (p.Arg192=)
c.510C>A (p.Arg170=)
c.534C>A (p.Arg178=)
c.321C>A (p.Arg107=)
n.617C>A
n.805C>A
c.429C>A (p.Arg143=)
n.786C>A
c.-244C>A (n.-244C>A)
 gnomAD v4
4g.1001806C>GCA438057323IDUAc.717C>G (p.Arg239=)
n.773C>G
c.576C>G (p.Arg192=)
c.510C>G (p.Arg170=)
c.534C>G (p.Arg178=)
c.321C>G (p.Arg107=)
n.617C>G
n.805C>G
c.429C>G (p.Arg143=)
n.786C>G
c.-244C>G (n.-244C>G)
4g.1001806C>TCA438057324IDUAc.717C>T (p.Arg239=)
n.773C>T
c.576C>T (p.Arg192=)
c.510C>T (p.Arg170=)
c.534C>T (p.Arg178=)
c.321C>T (p.Arg107=)
n.617C>T
n.805C>T
c.429C>T (p.Arg143=)
n.786C>T
c.-244C>T (n.-244C>T)
 gnomAD v4
4g.1001807C>ACA355962123IDUAc.718C>A (p.His240Asn)
n.774C>A
c.577C>A (p.His193Asn)
c.511C>A (p.His171Asn)
c.535C>A (p.His179Asn)
c.322C>A (p.His108Asn)
n.618C>A
n.806C>A
c.430C>A (p.His144Asn)
n.787C>A
c.-243C>A (n.-243C>A)
 ClinVar dbSNP
4g.1001807C=CA1433067986IDUAc.718C= (p.His240=)
n.774C=
c.577C= (p.His193=)
c.511C= (p.His171=)
c.535C= (p.His179=)
c.322C= (p.His108=)
n.618C=
n.806C=
c.430C= (p.His144=)
n.787C=
c.-243C= (n.-243C=)
4g.1001807C>GCA355962125IDUAc.718C>G (p.His240Asp)
n.774C>G
c.577C>G (p.His193Asp)
c.511C>G (p.His171Asp)
c.535C>G (p.His179Asp)
c.322C>G (p.His108Asp)
n.618C>G
n.806C>G
c.430C>G (p.His144Asp)
n.787C>G
c.-243C>G (n.-243C>G)
 ClinVar
4g.1001807C>TCA355962124IDUAc.718C>T (p.His240Tyr)
n.774C>T
c.577C>T (p.His193Tyr)
c.511C>T (p.His171Tyr)
c.535C>T (p.His179Tyr)
c.322C>T (p.His108Tyr)
n.618C>T
n.806C>T
c.430C>T (p.His144Tyr)
n.787C>T
c.-243C>T (n.-243C>T)
 ClinVar dbSNP
4g.1001812_1001837delCA2669479618IDUAc.723_748del (p.Cys241TrpfsTer?)
n.779_804del
c.582_607del (p.Cys194TrpfsTer?)
c.540_565del (p.Cys180TrpfsTer?)
c.327_352del (p.Cys109TrpfsTer?)
n.623_648del
n.811_836del
c.516_541del (p.Cys172TrpfsTer?)
c.435_460del (p.Cys145TrpfsTer?)
n.792_817del
c.-238_-213del (n.-238_-213del)
 gnomAD v4
4g.1001808A=CA1433067990IDUAc.719A= (p.His240=)
n.775A=
c.578A= (p.His193=)
c.512A= (p.His171=)
c.536A= (p.His179=)
c.323A= (p.His108=)
n.619A=
n.807A=
c.431A= (p.His144=)
n.788A=
c.-242A= (n.-242A=)
4g.1001808A>CCA355962126IDUAc.719A>C (p.His240Pro)
n.775A>C
c.578A>C (p.His193Pro)
c.512A>C (p.His171Pro)
c.536A>C (p.His179Pro)
c.323A>C (p.His108Pro)
n.619A>C
n.807A>C
c.431A>C (p.His144Pro)
n.788A>C
c.-242A>C (n.-242A>C)
4g.1001808A>GCA355962127IDUAc.719A>G (p.His240Arg)
n.775A>G
c.578A>G (p.His193Arg)
c.512A>G (p.His171Arg)
c.536A>G (p.His179Arg)
c.323A>G (p.His108Arg)
n.619A>G
n.807A>G
c.431A>G (p.His144Arg)
n.788A>G
c.-242A>G (n.-242A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.1001808A>TCA355962128IDUAc.719A>T (p.His240Leu)
n.775A>T
c.578A>T (p.His193Leu)
c.512A>T (p.His171Leu)
c.536A>T (p.His179Leu)
c.323A>T (p.His108Leu)
n.619A>T
n.807A>T
c.431A>T (p.His144Leu)
n.788A>T
c.-242A>T (n.-242A>T)
 gnomAD v4
4g.1001809C>ACA355962129IDUAc.720C>A (p.His240Gln)
n.776C>A
c.579C>A (p.His193Gln)
c.513C>A (p.His171Gln)
c.537C>A (p.His179Gln)
c.324C>A (p.His108Gln)
n.620C>A
n.808C>A
c.432C>A (p.His144Gln)
n.789C>A
c.-241C>A (n.-241C>A)
4g.1001809C=CA1433067997IDUAc.720C= (p.His240=)
n.776C=
c.579C= (p.His193=)
c.513C= (p.His171=)
c.537C= (p.His179=)
c.324C= (p.His108=)
n.620C=
n.808C=
c.432C= (p.His144=)
n.789C=
c.-241C= (n.-241C=)
4g.1001809C>GCA355962130IDUAc.720C>G (p.His240Gln)
n.776C>G
c.579C>G (p.His193Gln)
c.513C>G (p.His171Gln)
c.537C>G (p.His179Gln)
c.324C>G (p.His108Gln)
n.620C>G
n.808C>G
c.432C>G (p.His144Gln)
n.789C>G
c.-241C>G (n.-241C>G)
 ClinVar dbSNP
4g.1001809C>TCA438057325IDUAc.720C>T (p.His240=)
n.776C>T
c.579C>T (p.His193=)
c.513C>T (p.His171=)
c.537C>T (p.His179=)
c.324C>T (p.His108=)
n.620C>T
n.808C>T
c.432C>T (p.His144=)
n.789C>T
c.-241C>T (n.-241C>T)
 gnomAD v4
4g.1001810T>ACA355962131IDUAc.721T>A (p.Cys241Ser)
n.777T>A
c.580T>A (p.Cys194Ser)
c.514T>A (p.Cys172Ser)
c.538T>A (p.Cys180Ser)
c.325T>A (p.Cys109Ser)
n.621T>A
n.809T>A
c.433T>A (p.Cys145Ser)
n.790T>A
c.-240T>A (n.-240T>A)
4g.1001810T>CCA355962132IDUAc.721T>C (p.Cys241Arg)
n.777T>C
c.580T>C (p.Cys194Arg)
c.514T>C (p.Cys172Arg)
c.538T>C (p.Cys180Arg)
c.325T>C (p.Cys109Arg)
n.621T>C
n.809T>C
c.433T>C (p.Cys145Arg)
n.790T>C
c.-240T>C (n.-240T>C)
 gnomAD v4
4g.1001810T>GCA355962133IDUAc.721T>G (p.Cys241Gly)
n.777T>G
c.580T>G (p.Cys194Gly)
c.514T>G (p.Cys172Gly)
c.538T>G (p.Cys180Gly)
c.325T>G (p.Cys109Gly)
n.621T>G
n.809T>G
c.433T>G (p.Cys145Gly)
n.790T>G
c.-240T>G (n.-240T>G)
 gnomAD v4
4g.1001811G>ACA355962134IDUAc.722G>A (p.Cys241Tyr)
n.778G>A
c.581G>A (p.Cys194Tyr)
c.515G>A (p.Cys172Tyr)
c.539G>A (p.Cys180Tyr)
c.326G>A (p.Cys109Tyr)
n.622G>A
n.810G>A
c.434G>A (p.Cys145Tyr)
n.791G>A
c.-239G>A (n.-239G>A)
 dbSNP gnomAD v4 COSMIC COSMIC
4g.1001811G>CCA355962135IDUAc.722G>C (p.Cys241Ser)
n.778G>C
c.581G>C (p.Cys194Ser)
c.515G>C (p.Cys172Ser)
c.539G>C (p.Cys180Ser)
c.326G>C (p.Cys109Ser)
n.622G>C
n.810G>C
c.434G>C (p.Cys145Ser)
n.791G>C
c.-239G>C (n.-239G>C)
4g.1001811G=CA1433068002IDUAc.722G= (p.Cys241=)
n.778G=
c.581G= (p.Cys194=)
c.515G= (p.Cys172=)
c.539G= (p.Cys180=)
c.326G= (p.Cys109=)
n.622G=
n.810G=
c.434G= (p.Cys145=)
n.791G=
c.-239G= (n.-239G=)
4g.1001811G>TCA355962136IDUAc.722G>T (p.Cys241Phe)
n.778G>T
c.581G>T (p.Cys194Phe)
c.515G>T (p.Cys172Phe)
c.539G>T (p.Cys180Phe)
c.326G>T (p.Cys109Phe)
n.622G>T
n.810G>T
c.434G>T (p.Cys145Phe)
n.791G>T
c.-239G>T (n.-239G>T)
 gnomAD v4
4g.1001811_1001812delinsAACA2697557038IDUAc.722_723delinsAA (p.Cys241Ter)
n.778_779delinsAA
c.581_582delinsAA (p.Cys194Ter)
c.515_516delinsAA (p.Cys172Ter)
c.539_540delinsAA (p.Cys180Ter)
c.326_327delinsAA (p.Cys109Ter)
n.622_623delinsAA
n.810_811delinsAA
c.434_435delinsAA (p.Cys145Ter)
n.791_792delinsAA
c.-239_-238delinsAA (n.-239_-238delinsAA)
 ClinVar
4g.1001812C>ACA355962137IDUAc.723C>A (p.Cys241Ter)
n.779C>A
c.582C>A (p.Cys194Ter)
c.516C>A (p.Cys172Ter)
c.540C>A (p.Cys180Ter)
c.327C>A (p.Cys109Ter)
n.623C>A
n.811C>A
c.435C>A (p.Cys145Ter)
n.792C>A
c.-238C>A (n.-238C>A)
 dbSNP
4g.1001812C=CA1433068005IDUAc.723C= (p.Cys241=)
n.779C=
c.582C= (p.Cys194=)
c.516C= (p.Cys172=)
c.540C= (p.Cys180=)
c.327C= (p.Cys109=)
n.623C=
n.811C=
c.435C= (p.Cys145=)
n.792C=
c.-238C= (n.-238C=)
4g.1001812C>GCA355962138IDUAc.723C>G (p.Cys241Trp)
n.779C>G
c.582C>G (p.Cys194Trp)
c.516C>G (p.Cys172Trp)
c.540C>G (p.Cys180Trp)
c.327C>G (p.Cys109Trp)
n.623C>G
n.811C>G
c.435C>G (p.Cys145Trp)
n.792C>G
c.-238C>G (n.-238C>G)
4g.1001812C>TCA438057326IDUAc.723C>T (p.Cys241=)
n.779C>T
c.582C>T (p.Cys194=)
c.516C>T (p.Cys172=)
c.540C>T (p.Cys180=)
c.327C>T (p.Cys109=)
n.623C>T
n.811C>T
c.435C>T (p.Cys145=)
n.792C>T
c.-238C>T (n.-238C>T)
 gnomAD v4
4g.1001813C>ACA355962139IDUAc.724C>A (p.His242Asn)
n.780C>A
c.583C>A (p.His195Asn)
c.517C>A (p.His173Asn)
c.541C>A (p.His181Asn)
c.328C>A (p.His110Asn)
n.624C>A
n.812C>A
c.436C>A (p.His146Asn)
n.793C>A
c.-237C>A (n.-237C>A)
4g.1001813C>GCA355962141IDUAc.724C>G (p.His242Asp)
n.780C>G
c.583C>G (p.His195Asp)
c.517C>G (p.His173Asp)
c.541C>G (p.His181Asp)
c.328C>G (p.His110Asp)
n.624C>G
n.812C>G
c.436C>G (p.His146Asp)
n.793C>G
c.-237C>G (n.-237C>G)
4g.1001813C>TCA355962140IDUAc.724C>T (p.His242Tyr)
n.780C>T
c.583C>T (p.His195Tyr)
c.517C>T (p.His173Tyr)
c.541C>T (p.His181Tyr)
c.328C>T (p.His110Tyr)
n.624C>T
n.812C>T
c.436C>T (p.His146Tyr)
n.793C>T
c.-237C>T (n.-237C>T)
4g.1001814A>CCA355962142IDUAc.725A>C (p.His242Pro)
n.781A>C
c.584A>C (p.His195Pro)
c.518A>C (p.His173Pro)
c.542A>C (p.His181Pro)
c.329A>C (p.His110Pro)
n.625A>C
n.813A>C
c.437A>C (p.His146Pro)
n.794A>C
c.-236A>C (n.-236A>C)
4g.1001814A>GCA355962144IDUAc.725A>G (p.His242Arg)
n.781A>G
c.584A>G (p.His195Arg)
c.518A>G (p.His173Arg)
c.542A>G (p.His181Arg)
c.329A>G (p.His110Arg)
n.625A>G
n.813A>G
c.437A>G (p.His146Arg)
n.794A>G
c.-236A>G (n.-236A>G)
4g.1001814A>TCA355962143IDUAc.725A>T (p.His242Leu)
n.781A>T
c.584A>T (p.His195Leu)
c.518A>T (p.His173Leu)
c.542A>T (p.His181Leu)
c.329A>T (p.His110Leu)
n.625A>T
n.813A>T
c.437A>T (p.His146Leu)
n.794A>T
c.-236A>T (n.-236A>T)
4g.1001815C>ACA355962145IDUAc.726C>A (p.His242Gln)
n.782C>A
c.585C>A (p.His195Gln)
c.519C>A (p.His173Gln)
c.543C>A (p.His181Gln)
c.330C>A (p.His110Gln)
n.626C>A
n.814C>A
c.438C>A (p.His146Gln)
n.795C>A
c.-235C>A (n.-235C>A)
 ClinVar gnomAD v4
4g.1001815C>GCA355962146IDUAc.726C>G (p.His242Gln)
n.782C>G
c.585C>G (p.His195Gln)
c.519C>G (p.His173Gln)
c.543C>G (p.His181Gln)
c.330C>G (p.His110Gln)
n.626C>G
n.814C>G
c.438C>G (p.His146Gln)
n.795C>G
c.-235C>G (n.-235C>G)
4g.1001815C>TCA438057327IDUAc.726C>T (p.His242=)
n.782C>T
c.585C>T (p.His195=)
c.519C>T (p.His173=)
c.543C>T (p.His181=)
c.330C>T (p.His110=)
n.626C>T
n.814C>T
c.438C>T (p.His146=)
n.795C>T
c.-235C>T (n.-235C>T)
 gnomAD v4
4g.1001816G>ACA355962147IDUAc.727G>A (p.Asp243Asn)
n.783G>A
c.586G>A (p.Asp196Asn)
c.520G>A (p.Asp174Asn)
c.544G>A (p.Asp182Asn)
c.331G>A (p.Asp111Asn)
n.627G>A
n.815G>A
c.439G>A (p.Asp147Asn)
n.796G>A
c.-234G>A (n.-234G>A)
 ClinVar dbSNP gnomAD v4
4g.1001816G>CCA355962149IDUAc.727G>C (p.Asp243His)
n.783G>C
c.586G>C (p.Asp196His)
c.520G>C (p.Asp174His)
c.544G>C (p.Asp182His)
c.331G>C (p.Asp111His)
n.627G>C
n.815G>C
c.439G>C (p.Asp147His)
n.796G>C
c.-234G>C (n.-234G>C)
 dbSNP gnomAD v4
4g.1001816G=CA1433068008IDUAc.727G= (p.Asp243=)
n.783G=
c.586G= (p.Asp196=)
c.520G= (p.Asp174=)
c.544G= (p.Asp182=)
c.331G= (p.Asp111=)
n.627G=
n.815G=
c.439G= (p.Asp147=)
n.796G=
c.-234G= (n.-234G=)
4g.1001816G>TCA355962148IDUAc.727G>T (p.Asp243Tyr)
n.783G>T
c.586G>T (p.Asp196Tyr)
c.520G>T (p.Asp174Tyr)
c.544G>T (p.Asp182Tyr)
c.331G>T (p.Asp111Tyr)
n.627G>T
n.815G>T
c.439G>T (p.Asp147Tyr)
n.796G>T
c.-234G>T (n.-234G>T)
 gnomAD v4
4g.1001817A=CA1433068010IDUAc.728A= (p.Asp243=)
n.784A=
c.587A= (p.Asp196=)
c.521A= (p.Asp174=)
c.545A= (p.Asp182=)
c.332A= (p.Asp111=)
n.628A=
n.816A=
c.440A= (p.Asp147=)
n.797A=
c.-233A= (n.-233A=)
4g.1001817A>CCA355962150IDUAc.728A>C (p.Asp243Ala)
n.784A>C
c.587A>C (p.Asp196Ala)
c.521A>C (p.Asp174Ala)
c.545A>C (p.Asp182Ala)
c.332A>C (p.Asp111Ala)
n.628A>C
n.816A>C
c.440A>C (p.Asp147Ala)
n.797A>C
c.-233A>C (n.-233A>C)
4g.1001817A>GCA355962151IDUAc.728A>G (p.Asp243Gly)
n.784A>G
c.587A>G (p.Asp196Gly)
c.521A>G (p.Asp174Gly)
c.545A>G (p.Asp182Gly)
c.332A>G (p.Asp111Gly)
n.628A>G
n.816A>G
c.440A>G (p.Asp147Gly)
n.797A>G
c.-233A>G (n.-233A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.1001817A>TCA355962152IDUAc.728A>T (p.Asp243Val)
n.784A>T
c.587A>T (p.Asp196Val)
c.521A>T (p.Asp174Val)
c.545A>T (p.Asp182Val)
c.332A>T (p.Asp111Val)
n.628A>T
n.816A>T
c.440A>T (p.Asp147Val)
n.797A>T
c.-233A>T (n.-233A>T)
4g.1001818C>ACA2802066IDUAc.729C>A (p.Asp243Glu)
n.785C>A
c.588C>A (p.Asp196Glu)
c.522C>A (p.Asp174Glu)
c.546C>A (p.Asp182Glu)
c.333C>A (p.Asp111Glu)
n.629C>A
n.817C>A
c.441C>A (p.Asp147Glu)
n.798C>A
c.-232C>A (n.-232C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001818C=CA1433068014IDUAc.729C= (p.Asp243=)
n.785C=
c.588C= (p.Asp196=)
c.522C= (p.Asp174=)
c.546C= (p.Asp182=)
c.333C= (p.Asp111=)
n.629C=
n.817C=
c.441C= (p.Asp147=)
n.798C=
c.-232C= (n.-232C=)
4g.1001818C>GCA355962153IDUAc.729C>G (p.Asp243Glu)
n.785C>G
c.588C>G (p.Asp196Glu)
c.522C>G (p.Asp174Glu)
c.546C>G (p.Asp182Glu)
c.333C>G (p.Asp111Glu)
n.629C>G
n.817C>G
c.441C>G (p.Asp147Glu)
n.798C>G
c.-232C>G (n.-232C>G)
4g.1001818C>TCA438057328IDUAc.729C>T (p.Asp243=)
n.785C>T
c.588C>T (p.Asp196=)
c.522C>T (p.Asp174=)
c.546C>T (p.Asp182=)
c.333C>T (p.Asp111=)
n.629C>T
n.817C>T
c.441C>T (p.Asp147=)
n.798C>T
c.-232C>T (n.-232C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.1001819G>ACA355962154IDUAc.730G>A (p.Gly244Ser)
n.786G>A
c.589G>A (p.Gly197Ser)
c.523G>A (p.Gly175Ser)
c.547G>A (p.Gly183Ser)
c.334G>A (p.Gly112Ser)
n.630G>A
n.818G>A
c.442G>A (p.Gly148Ser)
n.799G>A
c.-231G>A (n.-231G>A)
 gnomAD v4
4g.1001819G>CCA355962155IDUAc.730G>C (p.Gly244Arg)
n.786G>C
c.589G>C (p.Gly197Arg)
c.523G>C (p.Gly175Arg)
c.547G>C (p.Gly183Arg)
c.334G>C (p.Gly112Arg)
n.630G>C
n.818G>C
c.442G>C (p.Gly148Arg)
n.799G>C
c.-231G>C (n.-231G>C)
4g.1001819G>TCA355962156IDUAc.730G>T (p.Gly244Cys)
n.786G>T
c.589G>T (p.Gly197Cys)
c.523G>T (p.Gly175Cys)
c.547G>T (p.Gly183Cys)
c.334G>T (p.Gly112Cys)
n.630G>T
n.818G>T
c.442G>T (p.Gly148Cys)
n.799G>T
c.-231G>T (n.-231G>T)
 gnomAD v4
4g.1001820G>ACA2802067IDUAc.731G>A (p.Gly244Asp)
n.787G>A
c.590G>A (p.Gly197Asp)
c.524G>A (p.Gly175Asp)
c.548G>A (p.Gly183Asp)
c.335G>A (p.Gly112Asp)
n.631G>A
n.819G>A
c.443G>A (p.Gly148Asp)
n.800G>A
c.-230G>A (n.-230G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001820G>CCA91168002IDUAc.731G>C (p.Gly244Ala)
n.787G>C
c.590G>C (p.Gly197Ala)
c.524G>C (p.Gly175Ala)
c.548G>C (p.Gly183Ala)
c.335G>C (p.Gly112Ala)
n.631G>C
n.819G>C
c.443G>C (p.Gly148Ala)
n.800G>C
c.-230G>C (n.-230G>C)
 dbSNP
4g.1001820G=CA1433068019IDUAc.731G= (p.Gly244=)
n.787G=
c.590G= (p.Gly197=)
c.524G= (p.Gly175=)
c.548G= (p.Gly183=)
c.335G= (p.Gly112=)
n.631G=
n.819G=
c.443G= (p.Gly148=)
n.800G=
c.-230G= (n.-230G=)
4g.1001820G>TCA2802068IDUAc.731G>T (p.Gly244Val)
n.787G>T
c.590G>T (p.Gly197Val)
c.524G>T (p.Gly175Val)
c.548G>T (p.Gly183Val)
c.335G>T (p.Gly112Val)
n.631G>T
n.819G>T
c.443G>T (p.Gly148Val)
n.800G>T
c.-230G>T (n.-230G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001821T>ACA438057329IDUAc.732T>A (p.Gly244=)
n.788T>A
c.591T>A (p.Gly197=)
c.525T>A (p.Gly175=)
c.549T>A (p.Gly183=)
c.336T>A (p.Gly112=)
n.632T>A
n.820T>A
c.444T>A (p.Gly148=)
n.801T>A
c.-229T>A (n.-229T>A)
4g.1001821T>CCA438057330IDUAc.732T>C (p.Gly244=)
n.788T>C
c.591T>C (p.Gly197=)
c.525T>C (p.Gly175=)
c.549T>C (p.Gly183=)
c.336T>C (p.Gly112=)
n.632T>C
n.820T>C
c.444T>C (p.Gly148=)
n.801T>C
c.-229T>C (n.-229T>C)
 gnomAD v4
4g.1001821T>GCA438057331IDUAc.732T>G (p.Gly244=)
n.788T>G
c.591T>G (p.Gly197=)
c.525T>G (p.Gly175=)
c.549T>G (p.Gly183=)
c.336T>G (p.Gly112=)
n.632T>G
n.820T>G
c.444T>G (p.Gly148=)
n.801T>G
c.-229T>G (n.-229T>G)
4g.1001822A>CCA355962159IDUAc.733A>C (p.Thr245Pro)
n.789A>C
c.592A>C (p.Thr198Pro)
c.526A>C (p.Thr176Pro)
c.550A>C (p.Thr184Pro)
c.337A>C (p.Thr113Pro)
n.633A>C
n.821A>C
c.445A>C (p.Thr149Pro)
n.802A>C
c.-228A>C (n.-228A>C)
4g.1001822A>GCA355962157IDUAc.733A>G (p.Thr245Ala)
n.789A>G
c.592A>G (p.Thr198Ala)
c.526A>G (p.Thr176Ala)
c.550A>G (p.Thr184Ala)
c.337A>G (p.Thr113Ala)
n.633A>G
n.821A>G
c.445A>G (p.Thr149Ala)
n.802A>G
c.-228A>G (n.-228A>G)
4g.1001822A>TCA355962158IDUAc.733A>T (p.Thr245Ser)
n.789A>T
c.592A>T (p.Thr198Ser)
c.526A>T (p.Thr176Ser)
c.550A>T (p.Thr184Ser)
c.337A>T (p.Thr113Ser)
n.633A>T
n.821A>T
c.445A>T (p.Thr149Ser)
n.802A>T
c.-228A>T (n.-228A>T)
4g.1001823C>ACA355962160IDUAc.734C>A (p.Thr245Asn)
n.790C>A
c.593C>A (p.Thr198Asn)
c.527C>A (p.Thr176Asn)
c.551C>A (p.Thr184Asn)
c.338C>A (p.Thr113Asn)
n.634C>A
n.822C>A
c.446C>A (p.Thr149Asn)
n.803C>A
c.-227C>A (n.-227C>A)
 gnomAD v4
4g.1001823C=CA1433068022IDUAc.734C= (p.Thr245=)
n.790C=
c.593C= (p.Thr198=)
c.527C= (p.Thr176=)
c.551C= (p.Thr184=)
c.338C= (p.Thr113=)
n.634C=
n.822C=
c.446C= (p.Thr149=)
n.803C=
c.-227C= (n.-227C=)
4g.1001823C>GCA355962161IDUAc.734C>G (p.Thr245Ser)
n.790C>G
c.593C>G (p.Thr198Ser)
c.527C>G (p.Thr176Ser)
c.551C>G (p.Thr184Ser)
c.338C>G (p.Thr113Ser)
n.634C>G
n.822C>G
c.446C>G (p.Thr149Ser)
n.803C>G
c.-227C>G (n.-227C>G)
 gnomAD v4
4g.1001823C>TCA355962162IDUAc.734C>T (p.Thr245Ile)
n.790C>T
c.593C>T (p.Thr198Ile)
c.527C>T (p.Thr176Ile)
c.551C>T (p.Thr184Ile)
c.338C>T (p.Thr113Ile)
n.634C>T
n.822C>T
c.446C>T (p.Thr149Ile)
n.803C>T
c.-227C>T (n.-227C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1001824C>ACA438057332IDUAc.735C>A (p.Thr245=)
n.791C>A
c.594C>A (p.Thr198=)
c.528C>A (p.Thr176=)
c.552C>A (p.Thr184=)
c.339C>A (p.Thr113=)
n.635C>A
n.823C>A
c.447C>A (p.Thr149=)
n.804C>A
c.-226C>A (n.-226C>A)
 COSMIC COSMIC
4g.1001824C=CA1433068027IDUAc.735C= (p.Thr245=)
n.791C=
c.594C= (p.Thr198=)
c.528C= (p.Thr176=)
c.552C= (p.Thr184=)
c.339C= (p.Thr113=)
n.635C=
n.823C=
c.447C= (p.Thr149=)
n.804C=
c.-226C= (n.-226C=)
4g.1001824C>GCA2802069IDUAc.735C>G (p.Thr245=)
n.791C>G
c.594C>G (p.Thr198=)
c.528C>G (p.Thr176=)
c.552C>G (p.Thr184=)
c.339C>G (p.Thr113=)
n.635C>G
n.823C>G
c.447C>G (p.Thr149=)
n.804C>G
c.-226C>G (n.-226C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001824C>TCA438057333IDUAc.735C>T (p.Thr245=)
n.791C>T
c.594C>T (p.Thr198=)
c.528C>T (p.Thr176=)
c.552C>T (p.Thr184=)
c.339C>T (p.Thr113=)
n.635C>T
n.823C>T
c.447C>T (p.Thr149=)
n.804C>T
c.-226C>T (n.-226C>T)
 ClinVar gnomAD v4
4g.1001824_1001825delinsCACA1433068030IDUAc.735_736delinsCA (p.Thr245=)
n.791_792delinsCA
c.594_595delinsCA (p.Thr198=)
c.528_529delinsCA (p.Thr176=)
c.552_553delinsCA (p.Thr184=)
c.339_340delinsCA (p.Thr113=)
n.635_636delinsCA
n.823_824delinsCA
c.447_448delinsCA (p.Thr149=)
n.804_805delinsCA
c.-226_-225delinsCA (n.-226_-225delinsCA)
4g.1001825A>CCA355962163IDUAc.736A>C (p.Asn246His)
n.792A>C
c.595A>C (p.Asn199His)
c.529A>C
c.553A>C (p.Asn185His)
c.340A>C (p.Asn114His)
n.636A>C
n.824A>C
c.529A>C (p.Asn177His)
c.448A>C (p.Asn150His)
n.805A>C
c.-225A>C (n.-225A>C)
4g.1001825A>GCA355962164IDUAc.736A>G (p.Asn246Asp)
n.792A>G
c.595A>G (p.Asn199Asp)
c.529A>G
c.553A>G (p.Asn185Asp)
c.340A>G (p.Asn114Asp)
n.636A>G
n.824A>G
c.529A>G (p.Asn177Asp)
c.448A>G (p.Asn150Asp)
n.805A>G
c.-225A>G (n.-225A>G)
4g.1001825A>TCA355962165IDUAc.736A>T (p.Asn246Tyr)
n.792A>T
c.595A>T (p.Asn199Tyr)
c.529A>T
c.553A>T (p.Asn185Tyr)
c.340A>T (p.Asn114Tyr)
n.636A>T
n.824A>T
c.529A>T (p.Asn177Tyr)
c.448A>T (p.Asn150Tyr)
n.805A>T
c.-225A>T (n.-225A>T)
4g.1001826delCA1433068035IDUAc.737del (p.Asn246ThrfsTer?)
n.793del
c.596del (p.Asn199ThrfsTer?)
c.554del (p.Asn185ThrfsTer?)
c.341del (p.Asn114ThrfsTer?)
n.637del
n.825del
c.530del (p.Asn177ThrfsTer?)
c.449del (p.Asn150ThrfsTer?)
n.806del
c.-224del (n.-224del)
 dbSNP
4g.1001826A=CA1433068042IDUAc.737A= (p.Asn246=)
n.793A=
c.596A= (p.Asn199=)
c.554A= (p.Asn185=)
c.341A= (p.Asn114=)
n.637A=
n.825A=
c.530A= (p.Asn177=)
c.449A= (p.Asn150=)
n.806A=
c.-224A= (n.-224A=)
4g.1001826A>CCA355962166IDUAc.737A>C (p.Asn246Thr)
n.793A>C
c.596A>C (p.Asn199Thr)
c.554A>C (p.Asn185Thr)
c.341A>C (p.Asn114Thr)
n.637A>C
n.825A>C
c.530A>C (p.Asn177Thr)
c.449A>C (p.Asn150Thr)
n.806A>C
c.-224A>C (n.-224A>C)
4g.1001826A>GCA355962167IDUAc.737A>G (p.Asn246Ser)
n.793A>G
c.596A>G (p.Asn199Ser)
c.554A>G (p.Asn185Ser)
c.341A>G (p.Asn114Ser)
n.637A>G
n.825A>G
c.530A>G (p.Asn177Ser)
c.449A>G (p.Asn150Ser)
n.806A>G
c.-224A>G (n.-224A>G)
 dbSNP
4g.1001826A>TCA355962168IDUAc.737A>T (p.Asn246Ile)
n.793A>T
c.596A>T (p.Asn199Ile)
c.554A>T (p.Asn185Ile)
c.341A>T (p.Asn114Ile)
n.637A>T
n.825A>T
c.530A>T (p.Asn177Ile)
c.449A>T (p.Asn150Ile)
n.806A>T
c.-224A>T (n.-224A>T)
4g.1001826_1001829delCA913108034IDUAc.737_740del (p.Asn246ThrfsTer?)
n.793_796del
c.596_599del (p.Asn199ThrfsTer?)
c.554_557del (p.Asn185ThrfsTer?)
c.341_344del (p.Asn114ThrfsTer?)
n.637_640del
n.825_828del
c.530_533del (p.Asn177ThrfsTer?)
c.449_452del (p.Asn150ThrfsTer?)
n.806_809del
c.-224_-221del (n.-224_-221del)
4g.1001826_1001829delinsACTTCA1433068040IDUAc.737_740delinsACTT (p.Asn246=)
n.793_796delinsACTT
c.596_599delinsACTT (p.Asn199=)
c.554_557delinsACTT (p.Asn185=)
c.341_344delinsACTT (p.Asn114=)
n.637_640delinsACTT
n.825_828delinsACTT
c.530_533delinsACTT (p.Asn177=)
c.449_452delinsACTT (p.Asn150=)
n.806_809delinsACTT
c.-224_-221delinsACTT (n.-224_-221delinsACTT)
4g.1001827C>ACA355962169IDUAc.738C>A (p.Asn246Lys)
n.794C>A
c.597C>A (p.Asn199Lys)
c.555C>A (p.Asn185Lys)
c.342C>A (p.Asn114Lys)
n.638C>A
n.826C>A
c.531C>A (p.Asn177Lys)
c.450C>A (p.Asn150Lys)
n.807C>A
c.-223C>A (n.-223C>A)
4g.1001827C>GCA355962170IDUAc.738C>G (p.Asn246Lys)
n.794C>G
c.597C>G (p.Asn199Lys)
c.555C>G (p.Asn185Lys)
c.342C>G (p.Asn114Lys)
n.638C>G
n.826C>G
c.531C>G (p.Asn177Lys)
c.450C>G (p.Asn150Lys)
n.807C>G
c.-223C>G (n.-223C>G)
4g.1001827C>TCA438057334IDUAc.738C>T (p.Asn246=)
n.794C>T
c.597C>T (p.Asn199=)
c.555C>T (p.Asn185=)
c.342C>T (p.Asn114=)
n.638C>T
n.826C>T
c.531C>T (p.Asn177=)
c.450C>T (p.Asn150=)
n.807C>T
c.-223C>T (n.-223C>T)
 gnomAD v4
4g.1001831_1001833delCA2802070IDUAc.742_744del (p.Phe248del)
n.798_800del
c.601_603del (p.Phe201del)
c.559_561del (p.Phe187del)
c.346_348del (p.Phe116del)
n.642_644del
n.830_832del
c.535_537del (p.Phe179del)
c.454_456del (p.Phe152del)
n.811_813del
c.-219_-217del (n.-219_-217del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001828T>ACA355962171IDUAc.739T>A (p.Phe247Ile)
n.795T>A
c.598T>A (p.Phe200Ile)
c.556T>A (p.Phe186Ile)
c.343T>A (p.Phe115Ile)
n.639T>A
n.827T>A
c.532T>A (p.Phe178Ile)
c.451T>A (p.Phe151Ile)
n.808T>A
c.-222T>A (n.-222T>A)
4g.1001828T>CCA355962172IDUAc.739T>C (p.Phe247Leu)
n.795T>C
c.598T>C (p.Phe200Leu)
c.556T>C (p.Phe186Leu)
c.343T>C (p.Phe115Leu)
n.639T>C
n.827T>C
c.532T>C (p.Phe178Leu)
c.451T>C (p.Phe151Leu)
n.808T>C
c.-222T>C (n.-222T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.1001828T>GCA355962173IDUAc.739T>G (p.Phe247Val)
n.795T>G
c.598T>G (p.Phe200Val)
c.556T>G (p.Phe186Val)
c.343T>G (p.Phe115Val)
n.639T>G
n.827T>G
c.532T>G (p.Phe178Val)
c.451T>G (p.Phe151Val)
n.808T>G
c.-222T>G (n.-222T>G)
4g.1001828T=CA1433068050IDUAc.739T= (p.Phe247=)
n.795T=
c.598T= (p.Phe200=)
c.556T= (p.Phe186=)
c.343T= (p.Phe115=)
n.639T=
n.827T=
c.532T= (p.Phe178=)
c.451T= (p.Phe151=)
n.808T=
c.-222T= (n.-222T=)
4g.1001829T>ACA355962174IDUAc.740T>A (p.Phe247Tyr)
n.796T>A
c.599T>A (p.Phe200Tyr)
c.557T>A (p.Phe186Tyr)
c.344T>A (p.Phe115Tyr)
n.640T>A
n.828T>A
c.533T>A (p.Phe178Tyr)
c.452T>A (p.Phe151Tyr)
n.809T>A
c.-221T>A (n.-221T>A)
4g.1001829T>CCA355962175IDUAc.740T>C (p.Phe247Ser)
n.796T>C
c.599T>C (p.Phe200Ser)
c.557T>C (p.Phe186Ser)
c.344T>C (p.Phe115Ser)
n.640T>C
n.828T>C
c.533T>C (p.Phe178Ser)
c.452T>C (p.Phe151Ser)
n.809T>C
c.-221T>C (n.-221T>C)
4g.1001829T>GCA355962176IDUAc.740T>G (p.Phe247Cys)
n.796T>G
c.599T>G (p.Phe200Cys)
c.557T>G (p.Phe186Cys)
c.344T>G (p.Phe115Cys)
n.640T>G
n.828T>G
c.533T>G (p.Phe178Cys)
c.452T>G (p.Phe151Cys)
n.809T>G
c.-221T>G (n.-221T>G)
4g.1001830C>ACA2802071IDUAc.741C>A (p.Phe247Leu)
n.797C>A
c.600C>A (p.Phe200Leu)
c.558C>A (p.Phe186Leu)
c.345C>A (p.Phe115Leu)
n.641C>A
n.829C>A
c.534C>A (p.Phe178Leu)
c.453C>A (p.Phe151Leu)
n.810C>A
c.-220C>A (n.-220C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001830C=CA1433068053IDUAc.741C= (p.Phe247=)
n.797C=
c.600C= (p.Phe200=)
c.558C= (p.Phe186=)
c.345C= (p.Phe115=)
n.641C=
n.829C=
c.534C= (p.Phe178=)
c.453C= (p.Phe151=)
n.810C=
c.-220C= (n.-220C=)
4g.1001830C>GCA355962177IDUAc.741C>G (p.Phe247Leu)
n.797C>G
c.600C>G (p.Phe200Leu)
c.558C>G (p.Phe186Leu)
c.345C>G (p.Phe115Leu)
n.641C>G
n.829C>G
c.534C>G (p.Phe178Leu)
c.453C>G (p.Phe151Leu)
n.810C>G
c.-220C>G (n.-220C>G)
4g.1001830C>TCA438057335IDUAc.741C>T (p.Phe247=)
n.797C>T
c.600C>T (p.Phe200=)
c.558C>T (p.Phe186=)
c.345C>T (p.Phe115=)
n.641C>T
n.829C>T
c.534C>T (p.Phe178=)
c.453C>T (p.Phe151=)
n.810C>T
c.-220C>T (n.-220C>T)
4g.1001831T>ACA355962178IDUAc.742T>A (p.Phe248Ile)
n.798T>A
c.601T>A (p.Phe201Ile)
c.559T>A (p.Phe187Ile)
c.346T>A (p.Phe116Ile)
n.642T>A
n.830T>A
c.535T>A (p.Phe179Ile)
c.454T>A (p.Phe152Ile)
n.811T>A
c.-219T>A (n.-219T>A)
4g.1001831T>CCA355962179IDUAc.742T>C (p.Phe248Leu)
n.798T>C
c.601T>C (p.Phe201Leu)
c.559T>C (p.Phe187Leu)
c.346T>C (p.Phe116Leu)
n.642T>C
n.830T>C
c.535T>C (p.Phe179Leu)
c.454T>C (p.Phe152Leu)
n.811T>C
c.-219T>C (n.-219T>C)
4g.1001831T>GCA355962180IDUAc.742T>G (p.Phe248Val)
n.798T>G
c.601T>G (p.Phe201Val)
c.559T>G (p.Phe187Val)
c.346T>G (p.Phe116Val)
n.642T>G
n.830T>G
c.535T>G (p.Phe179Val)
c.454T>G (p.Phe152Val)
n.811T>G
c.-219T>G (n.-219T>G)
4g.1001832T>ACA355962181IDUAc.743T>A (p.Phe248Tyr)
n.799T>A
c.602T>A (p.Phe201Tyr)
c.560T>A (p.Phe187Tyr)
c.347T>A (p.Phe116Tyr)
n.643T>A
n.831T>A
c.536T>A (p.Phe179Tyr)
c.455T>A (p.Phe152Tyr)
n.812T>A
c.-218T>A (n.-218T>A)
4g.1001832T>CCA355962182IDUAc.743T>C (p.Phe248Ser)
n.799T>C
c.602T>C (p.Phe201Ser)
c.560T>C (p.Phe187Ser)
c.347T>C (p.Phe116Ser)
n.643T>C
n.831T>C
c.536T>C (p.Phe179Ser)
c.455T>C (p.Phe152Ser)
n.812T>C
c.-218T>C (n.-218T>C)
4g.1001832T>GCA355962183IDUAc.743T>G (p.Phe248Cys)
n.799T>G
c.602T>G (p.Phe201Cys)
c.560T>G (p.Phe187Cys)
c.347T>G (p.Phe116Cys)
n.643T>G
n.831T>G
c.536T>G (p.Phe179Cys)
c.455T>G (p.Phe152Cys)
n.812T>G
c.-218T>G (n.-218T>G)
 dbSNP gnomAD v3
4g.1001833C>ACA355962184IDUAc.744C>A (p.Phe248Leu)
n.800C>A
c.603C>A (p.Phe201Leu)
c.561C>A (p.Phe187Leu)
c.348C>A (p.Phe116Leu)
n.644C>A
n.832C>A
c.537C>A (p.Phe179Leu)
c.456C>A (p.Phe152Leu)
n.813C>A
c.-217C>A (n.-217C>A)
 gnomAD v4
4g.1001833C=CA1433068058IDUAc.744C= (p.Phe248=)
n.800C=
c.603C= (p.Phe201=)
c.561C= (p.Phe187=)
c.348C= (p.Phe116=)
n.644C=
n.832C=
c.537C= (p.Phe179=)
c.456C= (p.Phe152=)
n.813C=
c.-217C= (n.-217C=)
4g.1001833C>GCA355962185IDUAc.744C>G (p.Phe248Leu)
n.800C>G
c.603C>G (p.Phe201Leu)
c.561C>G (p.Phe187Leu)
c.348C>G (p.Phe116Leu)
n.644C>G
n.832C>G
c.537C>G (p.Phe179Leu)
c.456C>G (p.Phe152Leu)
n.813C>G
c.-217C>G (n.-217C>G)
 COSMIC COSMIC
4g.1001833C>TCA2802072IDUAc.744C>T (p.Phe248=)
n.800C>T
c.603C>T (p.Phe201=)
c.561C>T (p.Phe187=)
c.348C>T (p.Phe116=)
n.644C>T
n.832C>T
c.537C>T (p.Phe179=)
c.456C>T (p.Phe152=)
n.813C>T
c.-217C>T (n.-217C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001834A>CCA355962186IDUAc.745A>C (p.Thr249Pro)
n.801A>C
c.604A>C (p.Thr202Pro)
c.562A>C (p.Thr188Pro)
c.349A>C (p.Thr117Pro)
n.645A>C
n.833A>C
c.538A>C (p.Thr180Pro)
c.457A>C (p.Thr153Pro)
n.814A>C
c.-216A>C (n.-216A>C)
4g.1001834A>GCA355962187IDUAc.745A>G (p.Thr249Ala)
n.801A>G
c.604A>G (p.Thr202Ala)
c.562A>G (p.Thr188Ala)
c.349A>G (p.Thr117Ala)
n.645A>G
n.833A>G
c.538A>G (p.Thr180Ala)
c.457A>G (p.Thr153Ala)
n.814A>G
c.-216A>G (n.-216A>G)
4g.1001834A>TCA355962188IDUAc.745A>T (p.Thr249Ser)
n.801A>T
c.604A>T (p.Thr202Ser)
c.562A>T (p.Thr188Ser)
c.349A>T (p.Thr117Ser)
n.645A>T
n.833A>T
c.538A>T (p.Thr180Ser)
c.457A>T (p.Thr153Ser)
n.814A>T
c.-216A>T (n.-216A>T)
4g.1001835C>ACA2802074IDUAc.746C>A (p.Thr249Asn)
n.802C>A
c.605C>A (p.Thr202Asn)
c.563C>A (p.Thr188Asn)
c.350C>A (p.Thr117Asn)
n.646C>A
n.834C>A
c.539C>A (p.Thr180Asn)
c.458C>A (p.Thr153Asn)
n.815C>A
c.-215C>A (n.-215C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001835C=CA1433068060IDUAc.746C= (p.Thr249=)
n.802C=
c.605C= (p.Thr202=)
c.563C= (p.Thr188=)
c.350C= (p.Thr117=)
n.646C=
n.834C=
c.539C= (p.Thr180=)
c.458C= (p.Thr153=)
n.815C=
c.-215C= (n.-215C=)
4g.1001835C>GCA355962189IDUAc.746C>G (p.Thr249Ser)
n.802C>G
c.605C>G (p.Thr202Ser)
c.563C>G (p.Thr188Ser)
c.350C>G (p.Thr117Ser)
n.646C>G
n.834C>G
c.539C>G (p.Thr180Ser)
c.458C>G (p.Thr153Ser)
n.815C>G
c.-215C>G (n.-215C>G)
 dbSNP
4g.1001835C>TCA2802073IDUAc.746C>T (p.Thr249Ile)
n.802C>T
c.605C>T (p.Thr202Ile)
c.563C>T (p.Thr188Ile)
c.350C>T (p.Thr117Ile)
n.646C>T
n.834C>T
c.539C>T (p.Thr180Ile)
c.458C>T (p.Thr153Ile)
n.815C>T
c.-215C>T (n.-215C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001836T>ACA438057336IDUAc.747T>A (p.Thr249=)
n.803T>A
c.606T>A (p.Thr202=)
c.564T>A (p.Thr188=)
c.351T>A (p.Thr117=)
n.647T>A
n.835T>A
c.540T>A (p.Thr180=)
c.459T>A (p.Thr153=)
n.816T>A
c.-214T>A (n.-214T>A)
4g.1001836T>CCA438057337IDUAc.747T>C (p.Thr249=)
n.803T>C
c.606T>C (p.Thr202=)
c.564T>C (p.Thr188=)
c.351T>C (p.Thr117=)
n.647T>C
n.835T>C
c.540T>C (p.Thr180=)
c.459T>C (p.Thr153=)
n.816T>C
c.-214T>C (n.-214T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1001836T>GCA438057338IDUAc.747T>G (p.Thr249=)
n.803T>G
c.606T>G (p.Thr202=)
c.564T>G (p.Thr188=)
c.351T>G (p.Thr117=)
n.647T>G
n.835T>G
c.540T>G (p.Thr180=)
c.459T>G (p.Thr153=)
n.816T>G
c.-214T>G (n.-214T>G)
 dbSNP gnomAD v2 gnomAD v4
4g.1001836T=CA1433068063IDUAc.747T= (p.Thr249=)
n.803T=
c.606T= (p.Thr202=)
c.564T= (p.Thr188=)
c.351T= (p.Thr117=)
n.647T=
n.835T=
c.540T= (p.Thr180=)
c.459T= (p.Thr153=)
n.816T=
c.-214T= (n.-214T=)
4g.1001837G>ACA355962190IDUAc.748G>A (p.Gly250Arg)
n.804G>A
c.607G>A (p.Gly203Arg)
c.565G>A (p.Gly189Arg)
c.352G>A (p.Gly118Arg)
n.648G>A
n.836G>A
c.541G>A (p.Gly181Arg)
c.460G>A (p.Gly154Arg)
n.817G>A
c.-213G>A (n.-213G>A)
 gnomAD v4
4g.1001837G>CCA355962191IDUAc.748G>C (p.Gly250Arg)
n.804G>C
c.607G>C (p.Gly203Arg)
c.565G>C (p.Gly189Arg)
c.352G>C (p.Gly118Arg)
n.648G>C
n.836G>C
c.541G>C (p.Gly181Arg)
c.460G>C (p.Gly154Arg)
n.817G>C
c.-213G>C (n.-213G>C)
4g.1001837G>TCA355962192IDUAc.748G>T (p.Gly250Trp)
n.804G>T
c.607G>T (p.Gly203Trp)
c.565G>T (p.Gly189Trp)
c.352G>T (p.Gly118Trp)
n.648G>T
n.836G>T
c.541G>T (p.Gly181Trp)
c.460G>T (p.Gly154Trp)
n.817G>T
c.-213G>T (n.-213G>T)
4g.1001840dupCA2580070656IDUAc.751dup (p.Glu251GlyfsTer?)
n.807dup
c.610dup (p.Glu204GlyfsTer?)
c.568dup (p.Glu190GlyfsTer?)
c.355dup (p.Glu119GlyfsTer?)
n.651dup
n.839dup
c.544dup (p.Glu182GlyfsTer?)
c.463dup (p.Glu155GlyfsTer?)
n.820dup
c.-210dup (n.-210dup)
 ClinVar
4g.1001840delCA2580070655IDUAc.751del (p.Glu251ArgfsTer?)
n.807del
c.610del (p.Glu204ArgfsTer?)
c.568del (p.Glu190ArgfsTer?)
c.355del (p.Glu119ArgfsTer?)
n.651del
n.839del
c.544del (p.Glu182ArgfsTer?)
c.463del (p.Glu155ArgfsTer?)
n.820del
c.-210del (n.-210del)
 ClinVar gnomAD v4
4g.1001838G>ACA355962193IDUAc.749G>A (p.Gly250Glu)
n.805G>A
c.608G>A (p.Gly203Glu)
c.566G>A (p.Gly189Glu)
c.353G>A (p.Gly118Glu)
n.649G>A
n.837G>A
c.542G>A (p.Gly181Glu)
c.461G>A (p.Gly154Glu)
n.818G>A
c.-212G>A (n.-212G>A)
4g.1001838G>CCA355962194IDUAc.749G>C (p.Gly250Ala)
n.805G>C
c.608G>C (p.Gly203Ala)
c.566G>C (p.Gly189Ala)
c.353G>C (p.Gly118Ala)
n.649G>C
n.837G>C
c.542G>C (p.Gly181Ala)
c.461G>C (p.Gly154Ala)
n.818G>C
c.-212G>C (n.-212G>C)
4g.1001838G>TCA355962195IDUAc.749G>T (p.Gly250Val)
n.805G>T
c.608G>T (p.Gly203Val)
c.566G>T (p.Gly189Val)
c.353G>T (p.Gly118Val)
n.649G>T
n.837G>T
c.542G>T (p.Gly181Val)
c.461G>T (p.Gly154Val)
n.818G>T
c.-212G>T (n.-212G>T)
 ClinVar
4g.1001839G>ACA438057339IDUAc.750G>A (p.Gly250=)
n.806G>A
c.609G>A (p.Gly203=)
c.567G>A (p.Gly189=)
c.354G>A (p.Gly118=)
n.650G>A
n.838G>A
c.543G>A (p.Gly181=)
c.462G>A (p.Gly154=)
n.819G>A
c.-211G>A (n.-211G>A)
 gnomAD v4
4g.1001839G>CCA438057340IDUAc.750G>C (p.Gly250=)
n.806G>C
c.609G>C (p.Gly203=)
c.567G>C (p.Gly189=)
c.354G>C (p.Gly118=)
n.650G>C
n.838G>C
c.543G>C (p.Gly181=)
c.462G>C (p.Gly154=)
n.819G>C
c.-211G>C (n.-211G>C)
 ClinVar dbSNP
4g.1001839G=CA1433068067IDUAc.750G= (p.Gly250=)
n.806G=
c.609G= (p.Gly203=)
c.567G= (p.Gly189=)
c.354G= (p.Gly118=)
n.650G=
n.838G=
c.543G= (p.Gly181=)
c.462G= (p.Gly154=)
n.819G=
c.-211G= (n.-211G=)
4g.1001839G>TCA438057341IDUAc.750G>T (p.Gly250=)
n.806G>T
c.609G>T (p.Gly203=)
c.567G>T (p.Gly189=)
c.354G>T (p.Gly118=)
n.650G>T
n.838G>T
c.543G>T (p.Gly181=)
c.462G>T (p.Gly154=)
n.819G>T
c.-211G>T (n.-211G>T)
 gnomAD v4
4g.1001840G>ACA355962198IDUAc.751G>A (p.Glu251Lys)
n.807G>A
c.610G>A (p.Glu204Lys)
c.568G>A (p.Glu190Lys)
c.355G>A (p.Glu119Lys)
n.651G>A
n.839G>A
c.544G>A (p.Glu182Lys)
c.463G>A (p.Glu155Lys)
n.820G>A
c.-210G>A (n.-210G>A)
4g.1001840G>CCA355962197IDUAc.751G>C (p.Glu251Gln)
n.807G>C
c.610G>C (p.Glu204Gln)
c.568G>C (p.Glu190Gln)
c.355G>C (p.Glu119Gln)
n.651G>C
n.839G>C
c.544G>C (p.Glu182Gln)
c.463G>C (p.Glu155Gln)
n.820G>C
c.-210G>C (n.-210G>C)
4g.1001840G>TCA355962196IDUAc.751G>T (p.Glu251Ter)
n.807G>T
c.610G>T (p.Glu204Ter)
c.568G>T (p.Glu190Ter)
c.355G>T (p.Glu119Ter)
n.651G>T
n.839G>T
c.544G>T (p.Glu182Ter)
c.463G>T (p.Glu155Ter)
n.820G>T
c.-210G>T (n.-210G>T)
 gnomAD v4
4g.1001841A>CCA355962201IDUAc.752A>C (p.Glu251Ala)
n.808A>C
c.611A>C (p.Glu204Ala)
c.569A>C (p.Glu190Ala)
c.356A>C (p.Glu119Ala)
n.652A>C
n.840A>C
c.545A>C (p.Glu182Ala)
c.464A>C (p.Glu155Ala)
n.821A>C
c.-209A>C (n.-209A>C)
4g.1001841A>GCA355962199IDUAc.752A>G (p.Glu251Gly)
n.808A>G
c.611A>G (p.Glu204Gly)
c.569A>G (p.Glu190Gly)
c.356A>G (p.Glu119Gly)
n.652A>G
n.840A>G
c.545A>G (p.Glu182Gly)
c.464A>G (p.Glu155Gly)
n.821A>G
c.-209A>G (n.-209A>G)
4g.1001841A>TCA355962200IDUAc.752A>T (p.Glu251Val)
n.808A>T
c.611A>T (p.Glu204Val)
c.569A>T (p.Glu190Val)
c.356A>T (p.Glu119Val)
n.652A>T
n.840A>T
c.545A>T (p.Glu182Val)
c.464A>T (p.Glu155Val)
n.821A>T
c.-209A>T (n.-209A>T)
4g.1001842G>ACA438057342IDUAc.753G>A (p.Glu251=)
n.809G>A
c.612G>A (p.Glu204=)
c.570G>A (p.Glu190=)
c.357G>A (p.Glu119=)
n.653G>A
n.841G>A
c.546G>A (p.Glu182=)
c.465G>A (p.Glu155=)
n.822G>A
c.-208G>A (n.-208G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1001842G>CCA355962202IDUAc.753G>C (p.Glu251Asp)
n.809G>C
c.612G>C (p.Glu204Asp)
c.570G>C (p.Glu190Asp)
c.357G>C (p.Glu119Asp)
n.653G>C
n.841G>C
c.546G>C (p.Glu182Asp)
c.465G>C (p.Glu155Asp)
n.822G>C
c.-208G>C (n.-208G>C)
4g.1001842G=CA1433068069IDUAc.753G= (p.Glu251=)
n.809G=
c.612G= (p.Glu204=)
c.570G= (p.Glu190=)
c.357G= (p.Glu119=)
n.653G=
n.841G=
c.546G= (p.Glu182=)
c.465G= (p.Glu155=)
n.822G=
c.-208G= (n.-208G=)
4g.1001842G>TCA355962203IDUAc.753G>T (p.Glu251Asp)
n.809G>T
c.612G>T (p.Glu204Asp)
c.570G>T (p.Glu190Asp)
c.357G>T (p.Glu119Asp)
n.653G>T
n.841G>T
c.546G>T (p.Glu182Asp)
c.465G>T (p.Glu155Asp)
n.822G>T
c.-208G>T (n.-208G>T)
4g.1001843G>ACA355962204IDUAc.754G>A (p.Ala252Thr)
n.810G>A
c.613G>A (p.Ala205Thr)
c.571G>A (p.Ala191Thr)
c.358G>A (p.Ala120Thr)
n.654G>A
n.842G>A
c.547G>A (p.Ala183Thr)
c.466G>A (p.Ala156Thr)
n.823G>A
c.-207G>A (n.-207G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.1001843G>CCA355962205IDUAc.754G>C (p.Ala252Pro)
n.810G>C
c.613G>C (p.Ala205Pro)
c.571G>C (p.Ala191Pro)
c.358G>C (p.Ala120Pro)
n.654G>C
n.842G>C
c.547G>C (p.Ala183Pro)
c.466G>C (p.Ala156Pro)
n.823G>C
c.-207G>C (n.-207G>C)
4g.1001843G=CA1433068072IDUAc.754G= (p.Ala252=)
n.810G=
c.613G= (p.Ala205=)
c.571G= (p.Ala191=)
c.358G= (p.Ala120=)
n.654G=
n.842G=
c.547G= (p.Ala183=)
c.466G= (p.Ala156=)
n.823G=
c.-207G= (n.-207G=)
4g.1001843G>TCA355962206IDUAc.754G>T (p.Ala252Ser)
n.810G>T
c.613G>T (p.Ala205Ser)
c.571G>T (p.Ala191Ser)
c.358G>T (p.Ala120Ser)
n.654G>T
n.842G>T
c.547G>T (p.Ala183Ser)
c.466G>T (p.Ala156Ser)
n.823G>T
c.-207G>T (n.-207G>T)
 gnomAD v4
4g.1001843_1001844insACGTCTCCATGACCATGCAAGGTGTGCACCGCTTCA2760125532IDUAc.754_755insACGTCTCCATGACCATGCAAGGTGTGCACCGCTT (p.Ala252AspfsTer?)
n.810_811insACGTCTCCATGACCATGCAAGGTGTGCACCGCTT
c.613_614insACGTCTCCATGACCATGCAAGGTGTGCACCGCTT (p.Ala205AspfsTer?)
c.571_572insACGTCTCCATGACCATGCAAGGTGTGCACCGCTT (p.Ala191AspfsTer?)
c.358_359insACGTCTCCATGACCATGCAAGGTGTGCACCGCTT (p.Ala120AspfsTer?)
n.654_655insACGTCTCCATGACCATGCAAGGTGTGCACCGCTT
n.842_843insACGTCTCCATGACCATGCAAGGTGTGCACCGCTT
c.547_548insACGTCTCCATGACCATGCAAGGTGTGCACCGCTT (p.Ala183AspfsTer?)
c.466_467insACGTCTCCATGACCATGCAAGGTGTGCACCGCTT (p.Ala156AspfsTer?)
n.823_824insACGTCTCCATGACCATGCAAGGTGTGCACCGCTT
c.-207_-206insACGTCTCCATGACCATGCAAGGTGTGCACCGCTT (n.-207_-206insACGTCTCCATGACCATGCAAGGTGTGCACCGCTT)
4g.1001844C>ACA355962207IDUAc.755C>A (p.Ala252Glu)
n.811C>A
c.614C>A (p.Ala205Glu)
c.572C>A (p.Ala191Glu)
c.359C>A (p.Ala120Glu)
n.655C>A
n.843C>A
c.548C>A (p.Ala183Glu)
c.467C>A (p.Ala156Glu)
n.824C>A
c.-206C>A (n.-206C>A)
 dbSNP gnomAD v4
4g.1001844C=CA1433068075IDUAc.755C= (p.Ala252=)
n.811C=
c.614C= (p.Ala205=)
c.572C= (p.Ala191=)
c.359C= (p.Ala120=)
n.655C=
n.843C=
c.548C= (p.Ala183=)
c.467C= (p.Ala156=)
n.824C=
c.-206C= (n.-206C=)
4g.1001844C>GCA355962209IDUAc.755C>G (p.Ala252Gly)
n.811C>G
c.614C>G (p.Ala205Gly)
c.572C>G (p.Ala191Gly)
c.359C>G (p.Ala120Gly)
n.655C>G
n.843C>G
c.548C>G (p.Ala183Gly)
c.467C>G (p.Ala156Gly)
n.824C>G
c.-206C>G (n.-206C>G)
 gnomAD v4
4g.1001844C>TCA355962208IDUAc.755C>T (p.Ala252Val)
n.811C>T
c.614C>T (p.Ala205Val)
c.572C>T (p.Ala191Val)
c.359C>T (p.Ala120Val)
n.655C>T
n.843C>T
c.548C>T (p.Ala183Val)
c.467C>T (p.Ala156Val)
n.824C>T
c.-206C>T (n.-206C>T)
 gnomAD v4
4g.1001845G>ACA2802075IDUAc.756G>A (p.Ala252=)
n.812G>A
c.615G>A (p.Ala205=)
c.573G>A (p.Ala191=)
c.360G>A (p.Ala120=)
n.656G>A
n.844G>A
c.549G>A (p.Ala183=)
c.468G>A (p.Ala156=)
n.825G>A
c.-205G>A (n.-205G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001845G>CCA438057343IDUAc.756G>C (p.Ala252=)
n.812G>C
c.615G>C (p.Ala205=)
c.573G>C (p.Ala191=)
c.360G>C (p.Ala120=)
n.656G>C
n.844G>C
c.549G>C (p.Ala183=)
c.468G>C (p.Ala156=)
n.825G>C
c.-205G>C (n.-205G>C)
4g.1001845G=CA1433068078IDUAc.756G= (p.Ala252=)
n.812G=
c.615G= (p.Ala205=)
c.573G= (p.Ala191=)
c.360G= (p.Ala120=)
n.656G=
n.844G=
c.549G= (p.Ala183=)
c.468G= (p.Ala156=)
n.825G=
c.-205G= (n.-205G=)
4g.1001845G>TCA438057344IDUAc.756G>T (p.Ala252=)
n.812G>T
c.615G>T (p.Ala205=)
c.573G>T (p.Ala191=)
c.360G>T (p.Ala120=)
n.656G>T
n.844G>T
c.549G>T (p.Ala183=)
c.468G>T (p.Ala156=)
n.825G>T
c.-205G>T (n.-205G>T)
 gnomAD v4
4g.1001846G>ACA355962210IDUAc.757G>A (p.Gly253Ser)
n.813G>A
c.616G>A (p.Gly206Ser)
c.574G>A (p.Gly192Ser)
c.361G>A (p.Gly121Ser)
n.657G>A
n.845G>A
c.550G>A (p.Gly184Ser)
c.469G>A (p.Gly157Ser)
n.826G>A
c.-204G>A (n.-204G>A)
 gnomAD v4
4g.1001846G>CCA355962211IDUAc.757G>C (p.Gly253Arg)
n.813G>C
c.616G>C (p.Gly206Arg)
c.574G>C (p.Gly192Arg)
c.361G>C (p.Gly121Arg)
n.657G>C
n.845G>C
c.550G>C (p.Gly184Arg)
c.469G>C (p.Gly157Arg)
n.826G>C
c.-204G>C (n.-204G>C)
4g.1001846G=CA1433068083IDUAc.757G= (p.Gly253=)
n.813G=
c.616G= (p.Gly206=)
c.574G= (p.Gly192=)
c.361G= (p.Gly121=)
n.657G=
n.845G=
c.550G= (p.Gly184=)
c.469G= (p.Gly157=)
n.826G=
c.-204G= (n.-204G=)
4g.1001846G>TCA2802076IDUAc.757G>T (p.Gly253Cys)
n.813G>T
c.616G>T (p.Gly206Cys)
c.574G>T (p.Gly192Cys)
c.361G>T (p.Gly121Cys)
n.657G>T
n.845G>T
c.550G>T (p.Gly184Cys)
c.469G>T (p.Gly157Cys)
n.826G>T
c.-204G>T (n.-204G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001847G>ACA355962214IDUAc.758G>A (p.Gly253Asp)
n.814G>A
c.617G>A (p.Gly206Asp)
c.575G>A (p.Gly192Asp)
c.362G>A (p.Gly121Asp)
n.658G>A
n.846G>A
c.551G>A (p.Gly184Asp)
c.470G>A (p.Gly157Asp)
n.827G>A
c.-203G>A (n.-203G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1001847G>CCA355962212IDUAc.758G>C (p.Gly253Ala)
n.814G>C
c.617G>C (p.Gly206Ala)
c.575G>C (p.Gly192Ala)
c.362G>C (p.Gly121Ala)
n.658G>C
n.846G>C
c.551G>C (p.Gly184Ala)
c.470G>C (p.Gly157Ala)
n.827G>C
c.-203G>C (n.-203G>C)
 dbSNP gnomAD v4
4g.1001847G=CA1433068091IDUAc.758G= (p.Gly253=)
n.814G=
c.617G= (p.Gly206=)
c.575G= (p.Gly192=)
c.362G= (p.Gly121=)
n.658G=
n.846G=
c.551G= (p.Gly184=)
c.470G= (p.Gly157=)
n.827G=
c.-203G= (n.-203G=)
4g.1001847G>TCA355962213IDUAc.758G>T (p.Gly253Val)
n.814G>T
c.617G>T (p.Gly206Val)
c.575G>T (p.Gly192Val)
c.362G>T (p.Gly121Val)
n.658G>T
n.846G>T
c.551G>T (p.Gly184Val)
c.470G>T (p.Gly157Val)
n.827G>T
c.-203G>T (n.-203G>T)
 gnomAD v4
4g.1001848C>ACA438057355IDUAc.759C>A (p.Gly253=)
n.815C>A
c.618C>A (p.Gly206=)
c.576C>A (p.Gly192=)
c.363C>A (p.Gly121=)
n.659C>A
n.847C>A
c.552C>A (p.Gly184=)
c.471C>A (p.Gly157=)
n.828C>A
c.-202C>A (n.-202C>A)
 dbSNP gnomAD v3 gnomAD v4
4g.1001848C=CA1433068095IDUAc.759C= (p.Gly253=)
n.815C=
c.618C= (p.Gly206=)
c.576C= (p.Gly192=)
c.363C= (p.Gly121=)
n.659C=
n.847C=
c.552C= (p.Gly184=)
c.471C= (p.Gly157=)
n.828C=
c.-202C= (n.-202C=)
4g.1001848C>GCA438057356IDUAc.759C>G (p.Gly253=)
n.815C>G
c.618C>G (p.Gly206=)
c.576C>G (p.Gly192=)
c.363C>G (p.Gly121=)
n.659C>G
n.847C>G
c.552C>G (p.Gly184=)
c.471C>G (p.Gly157=)
n.828C>G
c.-202C>G (n.-202C>G)
4g.1001848C>TCA438057357IDUAc.759C>T (p.Gly253=)
n.815C>T
c.618C>T (p.Gly206=)
c.576C>T (p.Gly192=)
c.363C>T (p.Gly121=)
n.659C>T
n.847C>T
c.552C>T (p.Gly184=)
c.471C>T (p.Gly157=)
n.828C>T
c.-202C>T (n.-202C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.1001849G>ACA355962215IDUAc.760G>A (p.Val254Met)
n.816G>A
c.619G>A (p.Val207Met)
c.577G>A (p.Val193Met)
c.364G>A (p.Val122Met)
n.660G>A
n.848G>A
c.553G>A (p.Val185Met)
c.472G>A (p.Val158Met)
n.829G>A
c.-201G>A (n.-201G>A)
 gnomAD v4
4g.1001849G>CCA355962216IDUAc.760G>C (p.Val254Leu)
n.816G>C
c.619G>C (p.Val207Leu)
c.577G>C (p.Val193Leu)
c.364G>C (p.Val122Leu)
n.660G>C
n.848G>C
c.553G>C (p.Val185Leu)
c.472G>C (p.Val158Leu)
n.829G>C
c.-201G>C (n.-201G>C)
4g.1001849G>TCA355962217IDUAc.760G>T (p.Val254Leu)
n.816G>T
c.619G>T (p.Val207Leu)
c.577G>T (p.Val193Leu)
c.364G>T (p.Val122Leu)
n.660G>T
n.848G>T
c.553G>T (p.Val185Leu)
c.472G>T (p.Val158Leu)
n.829G>T
c.-201G>T (n.-201G>T)
 COSMIC COSMIC
4g.1001850T>ACA355962218IDUAc.761T>A (p.Val254Glu)
n.817T>A
c.620T>A (p.Val207Glu)
c.578T>A (p.Val193Glu)
c.365T>A (p.Val122Glu)
n.661T>A
n.849T>A
c.554T>A (p.Val185Glu)
c.473T>A (p.Val158Glu)
n.830T>A
c.-200T>A (n.-200T>A)
4g.1001850T>CCA355962219IDUAc.761T>C (p.Val254Ala)
n.817T>C
c.620T>C (p.Val207Ala)
c.578T>C (p.Val193Ala)
c.365T>C (p.Val122Ala)
n.661T>C
n.849T>C
c.554T>C (p.Val185Ala)
c.473T>C (p.Val158Ala)
n.830T>C
c.-200T>C (n.-200T>C)
 gnomAD v4
4g.1001850T>GCA2802077IDUAc.761T>G (p.Val254Gly)
n.817T>G
c.620T>G (p.Val207Gly)
c.578T>G (p.Val193Gly)
c.365T>G (p.Val122Gly)
n.661T>G
n.849T>G
c.554T>G (p.Val185Gly)
c.473T>G (p.Val158Gly)
n.830T>G
c.-200T>G (n.-200T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001850T=CA1433068099IDUAc.761T= (p.Val254=)
n.817T=
c.620T= (p.Val207=)
c.578T= (p.Val193=)
c.365T= (p.Val122=)
n.661T=
n.849T=
c.554T= (p.Val185=)
c.473T= (p.Val158=)
n.830T=
c.-200T= (n.-200T=)
4g.1001851G>ACA438057359IDUAc.762G>A (p.Val254=)
n.818G>A
c.621G>A (p.Val207=)
c.579G>A (p.Val193=)
c.366G>A (p.Val122=)
n.662G>A
n.850G>A
c.555G>A (p.Val185=)
c.474G>A (p.Val158=)
n.831G>A
c.-199G>A (n.-199G>A)
 gnomAD v4
4g.1001851G>CCA438057360IDUAc.762G>C (p.Val254=)
n.818G>C
c.621G>C (p.Val207=)
c.579G>C (p.Val193=)
c.366G>C (p.Val122=)
n.662G>C
n.850G>C
c.555G>C (p.Val185=)
c.474G>C (p.Val158=)
n.831G>C
c.-199G>C (n.-199G>C)
 dbSNP gnomAD v2 gnomAD v4
4g.1001851G=CA1433068103IDUAc.762G= (p.Val254=)
n.818G=
c.621G= (p.Val207=)
c.579G= (p.Val193=)
c.366G= (p.Val122=)
n.662G=
n.850G=
c.555G= (p.Val185=)
c.474G= (p.Val158=)
n.831G=
c.-199G= (n.-199G=)
4g.1001851G>TCA438057361IDUAc.762G>T (p.Val254=)
n.818G>T
c.621G>T (p.Val207=)
c.579G>T (p.Val193=)
c.366G>T (p.Val122=)
n.662G>T
n.850G>T
c.555G>T (p.Val185=)
c.474G>T (p.Val158=)
n.831G>T
c.-199G>T (n.-199G>T)
 gnomAD v4
4g.1001852C>ACA91168050IDUAc.763C>A (p.Arg255=)
n.819C>A
c.622C>A (p.Arg208=)
c.580C>A (p.Arg194=)
c.367C>A (p.Arg123=)
n.663C>A
n.851C>A
c.556C>A (p.Arg186=)
c.475C>A (p.Arg159=)
n.832C>A
c.-198C>A (n.-198C>A)
 dbSNP gnomAD v4
4g.1001852C=CA1433068106IDUAc.763C= (p.Arg255=)
n.819C=
c.622C= (p.Arg208=)
c.580C= (p.Arg194=)
c.367C= (p.Arg123=)
n.663C=
n.851C=
c.556C= (p.Arg186=)
c.475C= (p.Arg159=)
n.832C=
c.-198C= (n.-198C=)
4g.1001852C>GCA355962220IDUAc.763C>G (p.Arg255Gly)
n.819C>G
c.622C>G (p.Arg208Gly)
c.580C>G (p.Arg194Gly)
c.367C>G (p.Arg123Gly)
n.663C>G
n.851C>G
c.556C>G (p.Arg186Gly)
c.475C>G (p.Arg159Gly)
n.832C>G
c.-198C>G (n.-198C>G)
4g.1001852C>TCA2802078IDUAc.763C>T (p.Arg255Trp)
n.819C>T
c.622C>T (p.Arg208Trp)
c.580C>T (p.Arg194Trp)
c.367C>T (p.Arg123Trp)
n.663C>T
n.851C>T
c.556C>T (p.Arg186Trp)
c.475C>T (p.Arg159Trp)
n.832C>T
c.-198C>T (n.-198C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001853G>ACA355962221IDUAc.764G>A (p.Arg255Gln)
n.820G>A
c.623G>A (p.Arg208Gln)
c.581G>A (p.Arg194Gln)
c.368G>A (p.Arg123Gln)
n.664G>A
n.852G>A
c.557G>A (p.Arg186Gln)
c.476G>A (p.Arg159Gln)
n.833G>A
c.-197G>A (n.-197G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.1001853G>CCA355962222IDUAc.764G>C (p.Arg255Pro)
n.820G>C
c.623G>C (p.Arg208Pro)
c.581G>C (p.Arg194Pro)
c.368G>C (p.Arg123Pro)
n.664G>C
n.852G>C
c.557G>C (p.Arg186Pro)
c.476G>C (p.Arg159Pro)
n.833G>C
c.-197G>C (n.-197G>C)
 dbSNP gnomAD v2
4g.1001853G=CA1433068112IDUAc.764G= (p.Arg255=)
n.820G=
c.623G= (p.Arg208=)
c.581G= (p.Arg194=)
c.368G= (p.Arg123=)
n.664G=
n.852G=
c.557G= (p.Arg186=)
c.476G= (p.Arg159=)
n.833G=
c.-197G= (n.-197G=)
4g.1001853G>TCA355962223IDUAc.764G>T (p.Arg255Leu)
n.820G>T
c.623G>T (p.Arg208Leu)
c.581G>T (p.Arg194Leu)
c.368G>T (p.Arg123Leu)
n.664G>T
n.852G>T
c.557G>T (p.Arg186Leu)
c.476G>T (p.Arg159Leu)
n.833G>T
c.-197G>T (n.-197G>T)
 gnomAD v4
4g.1001854G>ACA438057363IDUAc.765G>A (p.Arg255=)
n.821G>A
c.624G>A (p.Arg208=)
c.582G>A (p.Arg194=)
c.369G>A (p.Arg123=)
n.665G>A
n.853G>A
c.558G>A (p.Arg186=)
c.477G>A (p.Arg159=)
n.834G>A
c.-196G>A (n.-196G>A)
 gnomAD v4
4g.1001854G>CCA91168084IDUAc.765G>C (p.Arg255=)
n.821G>C
c.624G>C (p.Arg208=)
c.582G>C (p.Arg194=)
c.369G>C (p.Arg123=)
n.665G>C
n.853G>C
c.558G>C (p.Arg186=)
c.477G>C (p.Arg159=)
n.834G>C
c.-196G>C (n.-196G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1001854G=CA1433068115IDUAc.765G= (p.Arg255=)
n.821G=
c.624G= (p.Arg208=)
c.582G= (p.Arg194=)
c.369G= (p.Arg123=)
n.665G=
n.853G=
c.558G= (p.Arg186=)
c.477G= (p.Arg159=)
n.834G=
c.-196G= (n.-196G=)
4g.1001854G>TCA438057365IDUAc.765G>T (p.Arg255=)
n.821G>T
c.624G>T (p.Arg208=)
c.582G>T (p.Arg194=)
c.369G>T (p.Arg123=)
n.665G>T
n.853G>T
c.558G>T (p.Arg186=)
c.477G>T (p.Arg159=)
n.834G>T
c.-196G>T (n.-196G>T)
 gnomAD v4
4g.1001855delCA2499922676IDUAc.766del (p.Leu256TrpfsTer?)
n.822del
c.625del (p.Leu209TrpfsTer?)
c.583del (p.Leu195TrpfsTer?)
c.370del (p.Leu124TrpfsTer?)
n.666del
n.854del
c.559del (p.Leu187TrpfsTer?)
c.478del (p.Leu160TrpfsTer?)
n.835del
c.-195del (n.-195del)
4g.1001855C>ACA355962224IDUAc.766C>A (p.Leu256Met)
n.822C>A
c.625C>A (p.Leu209Met)
c.583C>A (p.Leu195Met)
c.370C>A (p.Leu124Met)
n.666C>A
n.854C>A
c.559C>A (p.Leu187Met)
c.478C>A (p.Leu160Met)
n.835C>A
c.-195C>A (n.-195C>A)
4g.1001855C>GCA355962225IDUAc.766C>G (p.Leu256Val)
n.822C>G
c.625C>G (p.Leu209Val)
c.583C>G (p.Leu195Val)
c.370C>G (p.Leu124Val)
n.666C>G
n.854C>G
c.559C>G (p.Leu187Val)
c.478C>G (p.Leu160Val)
n.835C>G
c.-195C>G (n.-195C>G)
4g.1001855C>TCA438057367IDUAc.766C>T (p.Leu256=)
n.822C>T
c.625C>T (p.Leu209=)
c.583C>T (p.Leu195=)
c.370C>T (p.Leu124=)
n.666C>T
n.854C>T
c.559C>T (p.Leu187=)
c.478C>T (p.Leu160=)
n.835C>T
c.-195C>T (n.-195C>T)
 gnomAD v4
4g.1001928_1001929insTGCGTCTGGACTACATCTCCCTCCACAGGAAGGTGCGCCCTGCCCCTCCGTCCGCCCCGGTGTTCTGCGCCCTCAGCCGCA2669479815IDUAc.792+47_792+48insTGCGTCTGGACTACATCTCCCTCCACAGGAAGGTGCGCCCTGCCCCTCCGTCCGCCCCGGTGTTCTGCGCCCTCAGCCG
n.848+47_848+48insTGCGTCTGGACTACATCTCCCTCCACAGGAAGGTGCGCCCTGCCCCTCCGTCCGCCCCGGTGTTCTGCGCCCTCAGCCG
c.651+47_651+48insTGCGTCTGGACTACATCTCCCTCCACAGGAAGGTGCGCCCTGCCCCTCCGTCCGCCCCGGTGTTCTGCGCCCTCAGCCG
c.609+47_609+48insTGCGTCTGGACTACATCTCCCTCCACAGGAAGGTGCGCCCTGCCCCTCCGTCCGCCCCGGTGTTCTGCGCCCTCAGCCG
c.396+47_396+48insTGCGTCTGGACTACATCTCCCTCCACAGGAAGGTGCGCCCTGCCCCTCCGTCCGCCCCGGTGTTCTGCGCCCTCAGCCG
n.739_740insTGCGTCTGGACTACATCTCCCTCCACAGGAAGGTGCGCCCTGCCCCTCCGTCCGCCCCGGTGTTCTGCGCCCTCAGCCG
n.880+47_880+48insTGCGTCTGGACTACATCTCCCTCCACAGGAAGGTGCGCCCTGCCCCTCCGTCCGCCCCGGTGTTCTGCGCCCTCAGCCG
c.698_699insTGCGTCTGGACTACATCTCCCTCCACAGGAAGGTGCGCCCTGCCCCTCCGTCCGCCCCGGTGTTCTGCGCCCTCAGCCG (p.Cys234AlafsTer33)
c.585+47_585+48insTGCGTCTGGACTACATCTCCCTCCACAGGAAGGTGCGCCCTGCCCCTCCGTCCGCCCCGGTGTTCTGCGCCCTCAGCCG
c.504+47_504+48insTGCGTCTGGACTACATCTCCCTCCACAGGAAGGTGCGCCCTGCCCCTCCGTCCGCCCCGGTGTTCTGCGCCCTCAGCCG
n.861+47_861+48insTGCGTCTGGACTACATCTCCCTCCACAGGAAGGTGCGCCCTGCCCCTCCGTCCGCCCCGGTGTTCTGCGCCCTCAGCCG
c.-169+47_-169+48insTGCGTCTGGACTACATCTCCCTCCACAGGAAGGTGCGCCCTGCCCCTCCGTCCGCCCCGGTGTTCTGCGCCCTCAGCCG
 gnomAD v4
4g.1001856T>ACA355962226IDUAc.767T>A (p.Leu256Gln)
n.823T>A
c.626T>A (p.Leu209Gln)
c.584T>A (p.Leu195Gln)
c.371T>A (p.Leu124Gln)
n.667T>A
n.855T>A
c.560T>A (p.Leu187Gln)
c.479T>A (p.Leu160Gln)
n.836T>A
c.-194T>A (n.-194T>A)
4g.1001856T>CCA220513IDUAc.767T>C (p.Leu256Pro)
n.823T>C
c.626T>C (p.Leu209Pro)
c.584T>C (p.Leu195Pro)
c.371T>C (p.Leu124Pro)
n.667T>C
n.855T>C
c.560T>C (p.Leu187Pro)
c.479T>C (p.Leu160Pro)
n.836T>C
c.-194T>C (n.-194T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001856T>GCA355962227IDUAc.767T>G (p.Leu256Arg)
n.823T>G
c.626T>G (p.Leu209Arg)
c.584T>G (p.Leu195Arg)
c.371T>G (p.Leu124Arg)
n.667T>G
n.855T>G
c.560T>G (p.Leu187Arg)
c.479T>G (p.Leu160Arg)
n.836T>G
c.-194T>G (n.-194T>G)
4g.1001856T=CA1433068120IDUAc.767T= (p.Leu256=)
n.823T=
c.626T= (p.Leu209=)
c.584T= (p.Leu195=)
c.371T= (p.Leu124=)
n.667T=
n.855T=
c.560T= (p.Leu187=)
c.479T= (p.Leu160=)
n.836T=
c.-194T= (n.-194T=)
4g.1001857G>ACA438057368IDUAc.768G>A (p.Leu256=)
n.824G>A
c.627G>A (p.Leu209=)
c.585G>A (p.Leu195=)
c.372G>A (p.Leu124=)
n.668G>A
n.856G>A
c.561G>A (p.Leu187=)
c.480G>A (p.Leu160=)
n.837G>A
c.-193G>A (n.-193G>A)
 dbSNP gnomAD v4
4g.1001857G>CCA438057369IDUAc.768G>C (p.Leu256=)
n.824G>C
c.627G>C (p.Leu209=)
c.585G>C (p.Leu195=)
c.372G>C (p.Leu124=)
n.668G>C
n.856G>C
c.561G>C (p.Leu187=)
c.480G>C (p.Leu160=)
n.837G>C
c.-193G>C (n.-193G>C)
4g.1001857G=CA1433068130IDUAc.768G= (p.Leu256=)
n.824G=
c.627G= (p.Leu209=)
c.585G= (p.Leu195=)
c.372G= (p.Leu124=)
n.668G=
n.856G=
c.561G= (p.Leu187=)
c.480G= (p.Leu160=)
n.837G=
c.-193G= (n.-193G=)
4g.1001857G>TCA438057370IDUAc.768G>T (p.Leu256=)
n.824G>T
c.627G>T (p.Leu209=)
c.585G>T (p.Leu195=)
c.372G>T (p.Leu124=)
n.668G>T
n.856G>T
c.561G>T (p.Leu187=)
c.480G>T (p.Leu160=)
n.837G>T
c.-193G>T (n.-193G>T)
4g.1001858G>ACA355962228IDUAc.769G>A (p.Asp257Asn)
n.825G>A
c.628G>A (p.Asp210Asn)
c.586G>A (p.Asp196Asn)
c.373G>A (p.Asp125Asn)
n.669G>A
n.857G>A
c.562G>A (p.Asp188Asn)
c.481G>A (p.Asp161Asn)
n.838G>A
c.-192G>A (n.-192G>A)
4g.1001858G>CCA355962229IDUAc.769G>C (p.Asp257His)
n.825G>C
c.628G>C (p.Asp210His)
c.586G>C (p.Asp196His)
c.373G>C (p.Asp125His)
n.669G>C
n.857G>C
c.562G>C (p.Asp188His)
c.481G>C (p.Asp161His)
n.838G>C
c.-192G>C (n.-192G>C)
4g.1001858G>TCA355962230IDUAc.769G>T (p.Asp257Tyr)
n.825G>T
c.628G>T (p.Asp210Tyr)
c.586G>T (p.Asp196Tyr)
c.373G>T (p.Asp125Tyr)
n.669G>T
n.857G>T
c.562G>T (p.Asp188Tyr)
c.481G>T (p.Asp161Tyr)
n.838G>T
c.-192G>T (n.-192G>T)
 dbSNP gnomAD v4
4g.1001859A=CA1433068136IDUAc.770A= (p.Asp257=)
n.826A=
c.629A= (p.Asp210=)
c.587A= (p.Asp196=)
c.374A= (p.Asp125=)
n.670A=
n.858A=
c.563A= (p.Asp188=)
c.482A= (p.Asp161=)
n.839A=
c.-191A= (n.-191A=)
4g.1001859A>CCA355962231IDUAc.770A>C (p.Asp257Ala)
n.826A>C
c.629A>C (p.Asp210Ala)
c.587A>C (p.Asp196Ala)
c.374A>C (p.Asp125Ala)
n.670A>C
n.858A>C
c.563A>C (p.Asp188Ala)
c.482A>C (p.Asp161Ala)
n.839A>C
c.-191A>C (n.-191A>C)
4g.1001859A>GCA91168112IDUAc.770A>G (p.Asp257Gly)
n.826A>G
c.629A>G (p.Asp210Gly)
c.587A>G (p.Asp196Gly)
c.374A>G (p.Asp125Gly)
n.670A>G
n.858A>G
c.563A>G (p.Asp188Gly)
c.482A>G (p.Asp161Gly)
n.839A>G
c.-191A>G (n.-191A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1001859A>TCA355962232IDUAc.770A>T (p.Asp257Val)
n.826A>T
c.629A>T (p.Asp210Val)
c.587A>T (p.Asp196Val)
c.374A>T (p.Asp125Val)
n.670A>T
n.858A>T
c.563A>T (p.Asp188Val)
c.482A>T (p.Asp161Val)
n.839A>T
c.-191A>T (n.-191A>T)
4g.1001859_1001860delinsACCA1433068135IDUAc.770_771delinsAC (p.Asp257=)
n.826_827delinsAC
c.629_630delinsAC (p.Asp210=)
c.587_588delinsAC (p.Asp196=)
c.374_375delinsAC (p.Asp125=)
n.670_671delinsAC
n.858_859delinsAC
c.563_564delinsAC (p.Asp188=)
c.482_483delinsAC (p.Asp161=)
n.839_840delinsAC
c.-191_-190delinsAC (n.-191_-190delinsAC)
4g.1001860delCA2802079IDUAc.771del (p.Tyr258ThrfsTer?)
n.827del
c.630del (p.Tyr211ThrfsTer?)
c.588del (p.Tyr197ThrfsTer?)
c.375del (p.Tyr126ThrfsTer?)
n.671del
n.859del
c.564del (p.Tyr189ThrfsTer?)
c.483del (p.Tyr162ThrfsTer?)
n.840del
c.-190del (n.-190del)
 dbSNP ExAC gnomAD v2
4g.1001860C>ACA355962233IDUAc.771C>A (p.Asp257Glu)
n.827C>A
c.630C>A (p.Asp210Glu)
c.588C>A (p.Asp196Glu)
c.375C>A (p.Asp125Glu)
n.671C>A
n.859C>A
c.564C>A (p.Asp188Glu)
c.483C>A (p.Asp161Glu)
n.840C>A
c.-190C>A (n.-190C>A)
 dbSNP
4g.1001860C=CA1433068140IDUAc.771C= (p.Asp257=)
n.827C=
c.630C= (p.Asp210=)
c.588C= (p.Asp196=)
c.375C= (p.Asp125=)
n.671C=
n.859C=
c.564C= (p.Asp188=)
c.483C= (p.Asp161=)
n.840C=
c.-190C= (n.-190C=)
4g.1001860C>GCA355962234IDUAc.771C>G (p.Asp257Glu)
n.827C>G
c.630C>G (p.Asp210Glu)
c.588C>G (p.Asp196Glu)
c.375C>G (p.Asp125Glu)
n.671C>G
n.859C>G
c.564C>G (p.Asp188Glu)
c.483C>G (p.Asp161Glu)
n.840C>G
c.-190C>G (n.-190C>G)
 gnomAD v4
4g.1001860C>TCA438057373IDUAc.771C>T (p.Asp257=)
n.827C>T
c.630C>T (p.Asp210=)
c.588C>T (p.Asp196=)
c.375C>T (p.Asp125=)
n.671C>T
n.859C>T
c.564C>T (p.Asp188=)
c.483C>T (p.Asp161=)
n.840C>T
c.-190C>T (n.-190C>T)
4g.1001861T>ACA355962235IDUAc.772T>A (p.Tyr258Asn)
n.828T>A
c.631T>A (p.Tyr211Asn)
c.589T>A (p.Tyr197Asn)
c.376T>A (p.Tyr126Asn)
n.672T>A
n.860T>A
c.565T>A (p.Tyr189Asn)
c.484T>A (p.Tyr162Asn)
n.841T>A
c.-189T>A (n.-189T>A)
4g.1001861T>CCA355962236IDUAc.772T>C (p.Tyr258His)
n.828T>C
c.631T>C (p.Tyr211His)
c.589T>C (p.Tyr197His)
c.376T>C (p.Tyr126His)
n.672T>C
n.860T>C
c.565T>C (p.Tyr189His)
c.484T>C (p.Tyr162His)
n.841T>C
c.-189T>C (n.-189T>C)
4g.1001861T>GCA355962237IDUAc.772T>G (p.Tyr258Asp)
n.828T>G
c.631T>G (p.Tyr211Asp)
c.589T>G (p.Tyr197Asp)
c.376T>G (p.Tyr126Asp)
n.672T>G
n.860T>G
c.565T>G (p.Tyr189Asp)
c.484T>G (p.Tyr162Asp)
n.841T>G
c.-189T>G (n.-189T>G)
4g.1001862A=CA1433068143IDUAc.773A= (p.Tyr258=)
n.829A=
c.632A= (p.Tyr211=)
c.590A= (p.Tyr197=)
c.377A= (p.Tyr126=)
n.673A=
n.861A=
c.566A= (p.Tyr189=)
c.485A= (p.Tyr162=)
n.842A=
c.-188A= (n.-188A=)
4g.1001862A>CCA355962240IDUAc.773A>C (p.Tyr258Ser)
n.829A>C
c.632A>C (p.Tyr211Ser)
c.590A>C (p.Tyr197Ser)
c.377A>C (p.Tyr126Ser)
n.673A>C
n.861A>C
c.566A>C (p.Tyr189Ser)
c.485A>C (p.Tyr162Ser)
n.842A>C
c.-188A>C (n.-188A>C)
4g.1001862A>GCA355962238IDUAc.773A>G (p.Tyr258Cys)
n.829A>G
c.632A>G (p.Tyr211Cys)
c.590A>G (p.Tyr197Cys)
c.377A>G (p.Tyr126Cys)
n.673A>G
n.861A>G
c.566A>G (p.Tyr189Cys)
c.485A>G (p.Tyr162Cys)
n.842A>G
c.-188A>G (n.-188A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1001862A>TCA355962239IDUAc.773A>T (p.Tyr258Phe)
n.829A>T
c.632A>T (p.Tyr211Phe)
c.590A>T (p.Tyr197Phe)
c.377A>T (p.Tyr126Phe)
n.673A>T
n.861A>T
c.566A>T (p.Tyr189Phe)
c.485A>T (p.Tyr162Phe)
n.842A>T
c.-188A>T (n.-188A>T)
4g.1001863C>ACA355962241IDUAc.774C>A (p.Tyr258Ter)
n.830C>A
c.633C>A (p.Tyr211Ter)
c.591C>A (p.Tyr197Ter)
c.378C>A (p.Tyr126Ter)
n.674C>A
n.862C>A
c.567C>A (p.Tyr189Ter)
c.486C>A (p.Tyr162Ter)
n.843C>A
c.-187C>A (n.-187C>A)
 ClinVar gnomAD v4
4g.1001863C=CA1433068145IDUAc.774C= (p.Tyr258=)
n.830C=
c.633C= (p.Tyr211=)
c.591C= (p.Tyr197=)
c.378C= (p.Tyr126=)
n.674C=
n.862C=
c.567C= (p.Tyr189=)
c.486C= (p.Tyr162=)
n.843C=
c.-187C= (n.-187C=)
4g.1001863C>GCA355962242IDUAc.774C>G (p.Tyr258Ter)
n.830C>G
c.633C>G (p.Tyr211Ter)
c.591C>G (p.Tyr197Ter)
c.378C>G (p.Tyr126Ter)
n.674C>G
n.862C>G
c.567C>G (p.Tyr189Ter)
c.486C>G (p.Tyr162Ter)
n.843C>G
c.-187C>G (n.-187C>G)
4g.1001863C>TCA438057377IDUAc.774C>T (p.Tyr258=)
n.830C>T
c.633C>T (p.Tyr211=)
c.591C>T (p.Tyr197=)
c.378C>T (p.Tyr126=)
n.674C>T
n.862C>T
c.567C>T (p.Tyr189=)
c.486C>T (p.Tyr162=)
n.843C>T
c.-187C>T (n.-187C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1001864A>CCA355962243IDUAc.775A>C (p.Ile259Leu)
n.831A>C
c.634A>C (p.Ile212Leu)
c.592A>C (p.Ile198Leu)
c.379A>C (p.Ile127Leu)
n.675A>C
n.863A>C
c.568A>C (p.Ile190Leu)
c.487A>C (p.Ile163Leu)
n.844A>C
c.-186A>C (n.-186A>C)
 ClinVar dbSNP
4g.1001864A>GCA355962244IDUAc.775A>G (p.Ile259Val)
n.831A>G
c.634A>G (p.Ile212Val)
c.592A>G (p.Ile198Val)
c.379A>G (p.Ile127Val)
n.675A>G
n.863A>G
c.568A>G (p.Ile190Val)
c.487A>G (p.Ile163Val)
n.844A>G
c.-186A>G (n.-186A>G)
4g.1001864A>TCA355962245IDUAc.775A>T (p.Ile259Phe)
n.831A>T
c.634A>T (p.Ile212Phe)
c.592A>T (p.Ile198Phe)
c.379A>T (p.Ile127Phe)
n.675A>T
n.863A>T
c.568A>T (p.Ile190Phe)
c.487A>T (p.Ile163Phe)
n.844A>T
c.-186A>T (n.-186A>T)
4g.1001865T>ACA355962246IDUAc.776T>A (p.Ile259Asn)
n.832T>A
c.635T>A (p.Ile212Asn)
c.593T>A (p.Ile198Asn)
c.380T>A (p.Ile127Asn)
n.676T>A
n.864T>A
c.569T>A (p.Ile190Asn)
c.488T>A (p.Ile163Asn)
n.845T>A
c.-185T>A (n.-185T>A)
4g.1001865T>CCA355962247IDUAc.776T>C (p.Ile259Thr)
n.832T>C
c.635T>C (p.Ile212Thr)
c.593T>C (p.Ile198Thr)
c.380T>C (p.Ile127Thr)
n.676T>C
n.864T>C
c.569T>C (p.Ile190Thr)
c.488T>C (p.Ile163Thr)
n.845T>C
c.-185T>C (n.-185T>C)
 gnomAD v4
4g.1001865T>GCA355962248IDUAc.776T>G (p.Ile259Ser)
n.832T>G
c.635T>G (p.Ile212Ser)
c.593T>G (p.Ile198Ser)
c.380T>G (p.Ile127Ser)
n.676T>G
n.864T>G
c.569T>G (p.Ile190Ser)
c.488T>G (p.Ile163Ser)
n.845T>G
c.-185T>G (n.-185T>G)
4g.1001866C>ACA438057378IDUAc.777C>A (p.Ile259=)
n.833C>A
c.636C>A (p.Ile212=)
c.594C>A (p.Ile198=)
c.381C>A (p.Ile127=)
n.677C>A
n.865C>A
c.570C>A (p.Ile190=)
c.489C>A (p.Ile163=)
n.846C>A
c.-184C>A (n.-184C>A)
4g.1001866C=CA1433068148IDUAc.777C= (p.Ile259=)
n.833C=
c.636C= (p.Ile212=)
c.594C= (p.Ile198=)
c.381C= (p.Ile127=)
n.677C=
n.865C=
c.570C= (p.Ile190=)
c.489C= (p.Ile163=)
n.846C=
c.-184C= (n.-184C=)
4g.1001866C>GCA2802080IDUAc.777C>G (p.Ile259Met)
n.833C>G
c.636C>G (p.Ile212Met)
c.594C>G (p.Ile198Met)
c.381C>G (p.Ile127Met)
n.677C>G
n.865C>G
c.570C>G (p.Ile190Met)
c.489C>G (p.Ile163Met)
n.846C>G
c.-184C>G (n.-184C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001866C>TCA438057381IDUAc.777C>T (p.Ile259=)
n.833C>T
c.636C>T (p.Ile212=)
c.594C>T (p.Ile198=)
c.381C>T (p.Ile127=)
n.677C>T
n.865C>T
c.570C>T (p.Ile190=)
c.489C>T (p.Ile163=)
n.846C>T
c.-184C>T (n.-184C>T)
 ClinVar gnomAD v4
4g.1001867T>ACA355962249IDUAc.778T>A (p.Ser260Thr)
n.834T>A
c.637T>A (p.Ser213Thr)
c.595T>A (p.Ser199Thr)
c.382T>A (p.Ser128Thr)
n.678T>A
n.866T>A
c.571T>A (p.Ser191Thr)
c.490T>A (p.Ser164Thr)
n.847T>A
c.-183T>A (n.-183T>A)
4g.1001867T>CCA355962250IDUAc.778T>C (p.Ser260Pro)
n.834T>C
c.637T>C (p.Ser213Pro)
c.595T>C (p.Ser199Pro)
c.382T>C (p.Ser128Pro)
n.678T>C
n.866T>C
c.571T>C (p.Ser191Pro)
c.490T>C (p.Ser164Pro)
n.847T>C
c.-183T>C (n.-183T>C)
 gnomAD v4
4g.1001867T>GCA2802081IDUAc.778T>G (p.Ser260Ala)
n.834T>G
c.637T>G (p.Ser213Ala)
c.595T>G (p.Ser199Ala)
c.382T>G (p.Ser128Ala)
n.678T>G
n.866T>G
c.571T>G (p.Ser191Ala)
c.490T>G (p.Ser164Ala)
n.847T>G
c.-183T>G (n.-183T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001867T=CA1433068151IDUAc.778T= (p.Ser260=)
n.834T=
c.637T= (p.Ser213=)
c.595T= (p.Ser199=)
c.382T= (p.Ser128=)
n.678T=
n.866T=
c.571T= (p.Ser191=)
c.490T= (p.Ser164=)
n.847T=
c.-183T= (n.-183T=)
4g.1001868C>ACA355962252IDUAc.779C>A (p.Ser260Tyr)
n.835C>A
c.638C>A (p.Ser213Tyr)
c.596C>A (p.Ser199Tyr)
c.383C>A (p.Ser128Tyr)
n.679C>A
n.867C>A
c.572C>A (p.Ser191Tyr)
c.491C>A (p.Ser164Tyr)
n.848C>A
c.-182C>A (n.-182C>A)
 gnomAD v4
4g.1001868C=CA1433068154IDUAc.779C= (p.Ser260=)
n.835C=
c.638C= (p.Ser213=)
c.596C= (p.Ser199=)
c.383C= (p.Ser128=)
n.679C=
n.867C=
c.572C= (p.Ser191=)
c.491C= (p.Ser164=)
n.848C=
c.-182C= (n.-182C=)
4g.1001868C>GCA355962253IDUAc.779C>G (p.Ser260Cys)
n.835C>G
c.638C>G (p.Ser213Cys)
c.596C>G (p.Ser199Cys)
c.383C>G (p.Ser128Cys)
n.679C>G
n.867C>G
c.572C>G (p.Ser191Cys)
c.491C>G (p.Ser164Cys)
n.848C>G
c.-182C>G (n.-182C>G)
4g.1001868C>TCA355962251IDUAc.779C>T (p.Ser260Phe)
n.835C>T
c.638C>T (p.Ser213Phe)
c.596C>T (p.Ser199Phe)
c.383C>T (p.Ser128Phe)
n.679C>T
n.867C>T
c.572C>T (p.Ser191Phe)
c.491C>T (p.Ser164Phe)
n.848C>T
c.-182C>T (n.-182C>T)
 dbSNP gnomAD v4
4g.1001870delCA2669479863IDUAc.781del (p.Leu261SerfsTer?)
n.837del
c.640del (p.Leu214SerfsTer?)
c.598del (p.Leu200SerfsTer?)
c.385del (p.Leu129SerfsTer?)
n.681del
n.869del
c.574del (p.Leu192SerfsTer?)
c.493del (p.Leu165SerfsTer?)
n.850del
c.-180del (n.-180del)
 gnomAD v4
4g.1001869C>ACA438057383IDUAc.780C>A (p.Ser260=)
n.836C>A
c.639C>A (p.Ser213=)
c.597C>A (p.Ser199=)
c.384C>A (p.Ser128=)
n.680C>A
n.868C>A
c.573C>A (p.Ser191=)
c.492C>A (p.Ser164=)
n.849C>A
c.-181C>A (n.-181C>A)
 gnomAD v4
4g.1001869C>GCA438057384IDUAc.780C>G (p.Ser260=)
n.836C>G
c.639C>G (p.Ser213=)
c.597C>G (p.Ser199=)
c.384C>G (p.Ser128=)
n.680C>G
n.868C>G
c.573C>G (p.Ser191=)
c.492C>G (p.Ser164=)
n.849C>G
c.-181C>G (n.-181C>G)
4g.1001869C>TCA438057385IDUAc.780C>T (p.Ser260=)
n.836C>T
c.639C>T (p.Ser213=)
c.597C>T (p.Ser199=)
c.384C>T (p.Ser128=)
n.680C>T
n.868C>T
c.573C>T (p.Ser191=)
c.492C>T (p.Ser164=)
n.849C>T
c.-181C>T (n.-181C>T)
 gnomAD v4
4g.1001870C>ACA355962254IDUAc.781C>A (p.Leu261Ile)
n.837C>A
c.640C>A (p.Leu214Ile)
c.598C>A (p.Leu200Ile)
c.385C>A (p.Leu129Ile)
n.681C>A
n.869C>A
c.574C>A (p.Leu192Ile)
c.493C>A (p.Leu165Ile)
n.850C>A
c.-180C>A (n.-180C>A)
 gnomAD v4
4g.1001870C=CA1433068158IDUAc.781C= (p.Leu261=)
n.837C=
c.640C= (p.Leu214=)
c.598C= (p.Leu200=)
c.385C= (p.Leu129=)
n.681C=
n.869C=
c.574C= (p.Leu192=)
c.493C= (p.Leu165=)
n.850C=
c.-180C= (n.-180C=)
4g.1001870C>GCA355962255IDUAc.781C>G (p.Leu261Val)
n.837C>G
c.640C>G (p.Leu214Val)
c.598C>G (p.Leu200Val)
c.385C>G (p.Leu129Val)
n.681C>G
n.869C>G
c.574C>G (p.Leu192Val)
c.493C>G (p.Leu165Val)
n.850C>G
c.-180C>G (n.-180C>G)
 gnomAD v4
4g.1001870C>TCA2802082IDUAc.781C>T (p.Leu261Phe)
n.837C>T
c.640C>T (p.Leu214Phe)
c.598C>T (p.Leu200Phe)
c.385C>T (p.Leu129Phe)
n.681C>T
n.869C>T
c.574C>T (p.Leu192Phe)
c.493C>T (p.Leu165Phe)
n.850C>T
c.-180C>T (n.-180C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001871T>ACA355962256IDUAc.782T>A (p.Leu261His)
n.838T>A
c.641T>A (p.Leu214His)
c.599T>A (p.Leu200His)
c.386T>A (p.Leu129His)
n.682T>A
n.870T>A
c.575T>A (p.Leu192His)
c.494T>A (p.Leu165His)
n.851T>A
c.-179T>A (n.-179T>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.1001871T>CCA355962258IDUAc.782T>C (p.Leu261Pro)
n.838T>C
c.641T>C (p.Leu214Pro)
c.599T>C (p.Leu200Pro)
c.386T>C (p.Leu129Pro)
n.682T>C
n.870T>C
c.575T>C (p.Leu192Pro)
c.494T>C (p.Leu165Pro)
n.851T>C
c.-179T>C (n.-179T>C)
 gnomAD v4
4g.1001871T>GCA355962257IDUAc.782T>G (p.Leu261Arg)
n.838T>G
c.641T>G (p.Leu214Arg)
c.599T>G (p.Leu200Arg)
c.386T>G (p.Leu129Arg)
n.682T>G
n.870T>G
c.575T>G (p.Leu192Arg)
c.494T>G (p.Leu165Arg)
n.851T>G
c.-179T>G (n.-179T>G)
4g.1001871T=CA1433068164IDUAc.782T= (p.Leu261=)
n.838T=
c.641T= (p.Leu214=)
c.599T= (p.Leu200=)
c.386T= (p.Leu129=)
n.682T=
n.870T=
c.575T= (p.Leu192=)
c.494T= (p.Leu165=)
n.851T=
c.-179T= (n.-179T=)
4g.1001871_1001872delinsTCCA1433068162IDUAc.782_783delinsTC (p.Leu261=)
n.838_839delinsTC
c.641_642delinsTC (p.Leu214=)
c.599_600delinsTC (p.Leu200=)
c.386_387delinsTC (p.Leu129=)
n.682_683delinsTC
n.870_871delinsTC
c.575_576delinsTC (p.Leu192=)
c.494_495delinsTC (p.Leu165=)
n.851_852delinsTC
c.-179_-178delinsTC (n.-179_-178delinsTC)
4g.1001872C>ACA438057389IDUAc.783C>A (p.Leu261=)
n.839C>A
c.642C>A (p.Leu214=)
c.600C>A (p.Leu200=)
c.387C>A (p.Leu129=)
n.683C>A
n.871C>A
c.576C>A (p.Leu192=)
c.495C>A (p.Leu165=)
n.852C>A
c.-178C>A (n.-178C>A)
4g.1001872C=CA1433068169IDUAc.783C= (p.Leu261=)
n.839C=
c.642C= (p.Leu214=)
c.600C= (p.Leu200=)
c.387C= (p.Leu129=)
n.683C=
n.871C=
c.576C= (p.Leu192=)
c.495C= (p.Leu165=)
n.852C=
c.-178C= (n.-178C=)
4g.1001872C>GCA438057390IDUAc.783C>G (p.Leu261=)
n.839C>G
c.642C>G (p.Leu214=)
c.600C>G (p.Leu200=)
c.387C>G (p.Leu129=)
n.683C>G
n.871C>G
c.576C>G (p.Leu192=)
c.495C>G (p.Leu165=)
n.852C>G
c.-178C>G (n.-178C>G)
4g.1001872C>TCA438057391IDUAc.783C>T (p.Leu261=)
n.839C>T
c.642C>T (p.Leu214=)
c.600C>T (p.Leu200=)
c.387C>T (p.Leu129=)
n.683C>T
n.871C>T
c.576C>T (p.Leu192=)
c.495C>T (p.Leu165=)
n.852C>T
c.-178C>T (n.-178C>T)
 dbSNP gnomAD v4
4g.1001873delCA2802083IDUAc.784del (p.His262ThrfsTer?)
n.840del
c.643del (p.His215ThrfsTer?)
c.601del (p.His201ThrfsTer?)
c.388del (p.His130ThrfsTer?)
n.684del
n.872del
c.577del (p.His193ThrfsTer?)
c.496del (p.His166ThrfsTer?)
n.853del
c.-177del (n.-177del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.1001873C>ACA355962259IDUAc.784C>A (p.His262Asn)
n.840C>A
c.643C>A (p.His215Asn)
c.601C>A (p.His201Asn)
c.388C>A (p.His130Asn)
n.684C>A
n.872C>A
c.577C>A (p.His193Asn)
c.496C>A (p.His166Asn)
n.853C>A
c.-177C>A (n.-177C>A)
4g.1001873C=CA1433068172IDUAc.784C= (p.His262=)
n.840C=
c.643C= (p.His215=)
c.601C= (p.His201=)
c.388C= (p.His130=)
n.684C=
n.872C=
c.577C= (p.His193=)
c.496C= (p.His166=)
n.853C=
c.-177C= (n.-177C=)
4g.1001873C>GCA355962260IDUAc.784C>G (p.His262Asp)
n.840C>G
c.643C>G (p.His215Asp)
c.601C>G (p.His201Asp)
c.388C>G (p.His130Asp)
n.684C>G
n.872C>G
c.577C>G (p.His193Asp)
c.496C>G (p.His166Asp)
n.853C>G
c.-177C>G (n.-177C>G)
4g.1001873C>TCA2802084IDUAc.784C>T (p.His262Tyr)
n.840C>T
c.643C>T (p.His215Tyr)
c.601C>T (p.His201Tyr)
c.388C>T (p.His130Tyr)
n.684C>T
n.872C>T
c.577C>T (p.His193Tyr)
c.496C>T (p.His166Tyr)
n.853C>T
c.-177C>T (n.-177C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001874A=CA1433068178IDUAc.785A= (p.His262=)
n.841A=
c.644A= (p.His215=)
c.602A= (p.His201=)
c.389A= (p.His130=)
n.685A=
n.873A=
c.578A= (p.His193=)
c.497A= (p.His166=)
n.854A=
c.-176A= (n.-176A=)
4g.1001874A>CCA355962261IDUAc.785A>C (p.His262Pro)
n.841A>C
c.644A>C (p.His215Pro)
c.602A>C (p.His201Pro)
c.389A>C (p.His130Pro)
n.685A>C
n.873A>C
c.578A>C (p.His193Pro)
c.497A>C (p.His166Pro)
n.854A>C
c.-176A>C (n.-176A>C)
4g.1001874A>GCA91168172IDUAc.785A>G (p.His262Arg)
n.841A>G
c.644A>G (p.His215Arg)
c.602A>G (p.His201Arg)
c.389A>G (p.His130Arg)
n.685A>G
n.873A>G
c.578A>G (p.His193Arg)
c.497A>G (p.His166Arg)
n.854A>G
c.-176A>G (n.-176A>G)
 ClinVar dbSNP gnomAD v4
4g.1001874A>TCA355962262IDUAc.785A>T (p.His262Leu)
n.841A>T
c.644A>T (p.His215Leu)
c.602A>T (p.His201Leu)
c.389A>T (p.His130Leu)
n.685A>T
n.873A>T
c.578A>T (p.His193Leu)
c.497A>T (p.His166Leu)
n.854A>T
c.-176A>T (n.-176A>T)
4g.1001875C>ACA355962263IDUAc.786C>A (p.His262Gln)
n.842C>A
c.645C>A (p.His215Gln)
c.603C>A (p.His201Gln)
c.390C>A (p.His130Gln)
n.686C>A
n.874C>A
c.579C>A (p.His193Gln)
c.498C>A (p.His166Gln)
n.855C>A
c.-175C>A (n.-175C>A)
 dbSNP gnomAD v4
4g.1001875C=CA1433068180IDUAc.786C= (p.His262=)
n.842C=
c.645C= (p.His215=)
c.603C= (p.His201=)
c.390C= (p.His130=)
n.686C=
n.874C=
c.579C= (p.His193=)
c.498C= (p.His166=)
n.855C=
c.-175C= (n.-175C=)
4g.1001875C>GCA355962264IDUAc.786C>G (p.His262Gln)
n.842C>G
c.645C>G (p.His215Gln)
c.603C>G (p.His201Gln)
c.390C>G (p.His130Gln)
n.686C>G
n.874C>G
c.579C>G (p.His193Gln)
c.498C>G (p.His166Gln)
n.855C>G
c.-175C>G (n.-175C>G)
4g.1001875C>TCA438057394IDUAc.786C>T (p.His262=)
n.842C>T
c.645C>T (p.His215=)
c.603C>T (p.His201=)
c.390C>T (p.His130=)
n.686C>T
n.874C>T
c.579C>T (p.His193=)
c.498C>T (p.His166=)
n.855C>T
c.-175C>T (n.-175C>T)
 gnomAD v4
4g.1001876A=CA1433068183IDUAc.787A= (p.Arg263=)
n.843A=
c.646A= (p.Arg216=)
c.604A= (p.Arg202=)
c.391A= (p.Arg131=)
n.687A=
n.875A=
c.580A= (p.Arg194=)
c.499A= (p.Arg167=)
n.856A=
c.-174A= (n.-174A=)
4g.1001876A>CCA438057395IDUAc.787A>C (p.Arg263=)
n.843A>C
c.646A>C (p.Arg216=)
c.604A>C (p.Arg202=)
c.391A>C (p.Arg131=)
n.687A>C
n.875A>C
c.580A>C (p.Arg194=)
c.499A>C (p.Arg167=)
n.856A>C
c.-174A>C (n.-174A>C)
4g.1001876A>GCA355962265IDUAc.787A>G (p.Arg263Gly)
n.843A>G
c.646A>G (p.Arg216Gly)
c.604A>G (p.Arg202Gly)
c.391A>G (p.Arg131Gly)
n.687A>G
n.875A>G
c.580A>G (p.Arg194Gly)
c.499A>G (p.Arg167Gly)
n.856A>G
c.-174A>G (n.-174A>G)
4g.1001876A>TCA2802085IDUAc.787A>T (p.Arg263Trp)
n.843A>T
c.646A>T (p.Arg216Trp)
c.604A>T (p.Arg202Trp)
c.391A>T (p.Arg131Trp)
n.687A>T
n.875A>T
c.580A>T (p.Arg194Trp)
c.499A>T (p.Arg167Trp)
n.856A>T
c.-174A>T (n.-174A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1001877G>ACA91168184IDUAc.788G>A (p.Arg263Lys)
n.844G>A
c.647G>A (p.Arg216Lys)
c.605G>A (p.Arg202Lys)
c.392G>A (p.Arg131Lys)
n.688G>A
n.876G>A
c.581G>A (p.Arg194Lys)
c.500G>A (p.Arg167Lys)
n.857G>A
c.-173G>A (n.-173G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.1001877G>CCA355962266IDUAc.788G>C (p.Arg263Thr)
n.844G>C
c.647G>C (p.Arg216Thr)
c.605G>C (p.Arg202Thr)
c.392G>C (p.Arg131Thr)
n.688G>C
n.876G>C
c.581G>C (p.Arg194Thr)
c.500G>C (p.Arg167Thr)
n.857G>C
c.-173G>C (n.-173G>C)
4g.1001877G=CA1433068188IDUAc.788G= (p.Arg263=)
n.844G=
c.647G= (p.Arg216=)
c.605G= (p.Arg202=)
c.392G= (p.Arg131=)
n.688G=
n.876G=
c.581G= (p.Arg194=)
c.500G= (p.Arg167=)
n.857G=
c.-173G= (n.-173G=)
4g.1001877G>TCA355962267IDUAc.788G>T (p.Arg263Met)
n.844G>T
c.647G>T (p.Arg216Met)
c.605G>T (p.Arg202Met)
c.392G>T (p.Arg131Met)
n.688G>T
n.876G>T
c.581G>T (p.Arg194Met)
c.500G>T (p.Arg167Met)
n.857G>T
c.-173G>T (n.-173G>T)
 COSMIC
4g.1001878G>ACA438057396IDUAc.789G>A (p.Arg263=)
n.845G>A
c.648G>A (p.Arg216=)
c.606G>A (p.Arg202=)
c.393G>A (p.Arg131=)
n.689G>A
n.877G>A
c.582G>A (p.Arg194=)
c.501G>A (p.Arg167=)
n.858G>A
c.-172G>A (n.-172G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1001878G>CCA355962268IDUAc.789G>C (p.Arg263Ser)
n.845G>C
c.648G>C (p.Arg216Ser)
c.606G>C (p.Arg202Ser)
c.393G>C (p.Arg131Ser)
n.689G>C
n.877G>C
c.582G>C (p.Arg194Ser)
c.501G>C (p.Arg167Ser)
n.858G>C
c.-172G>C (n.-172G>C)
4g.1001878G=CA1433068195IDUAc.789G= (p.Arg263=)
n.845G=
c.648G= (p.Arg216=)
c.606G= (p.Arg202=)
c.393G= (p.Arg131=)
n.689G=
n.877G=
c.582G= (p.Arg194=)
c.501G= (p.Arg167=)
n.858G=
c.-172G= (n.-172G=)
4g.1001878G>TCA355962269IDUAc.789G>T (p.Arg263Ser)
n.845G>T
c.648G>T (p.Arg216Ser)
c.606G>T (p.Arg202Ser)
c.393G>T (p.Arg131Ser)
n.689G>T
n.877G>T
c.582G>T (p.Arg194Ser)
c.501G>T (p.Arg167Ser)
n.858G>T
c.-172G>T (n.-172G>T)
 gnomAD v4
4g.1001879A>CCA355962270IDUAc.790A>C (p.Lys264Gln)
n.846A>C
c.649A>C (p.Lys217Gln)
c.607A>C (p.Lys203Gln)
c.394A>C (p.Lys132Gln)
n.690A>C
n.878A>C
c.583A>C (p.Lys195Gln)
c.502A>C (p.Lys168Gln)
n.859A>C
c.-171A>C (n.-171A>C)
4g.1001879A>GCA355962271IDUAc.790A>G (p.Lys264Glu)
n.846A>G
c.649A>G (p.Lys217Glu)
c.607A>G (p.Lys203Glu)
c.394A>G (p.Lys132Glu)
n.690A>G
n.878A>G
c.583A>G (p.Lys195Glu)
c.502A>G (p.Lys168Glu)
n.859A>G
c.-171A>G (n.-171A>G)
4g.1001879A>TCA355962272IDUAc.790A>T (p.Lys264Ter)
n.846A>T
c.649A>T (p.Lys217Ter)
c.607A>T (p.Lys203Ter)
c.394A>T (p.Lys132Ter)
n.690A>T
n.878A>T
c.583A>T (p.Lys195Ter)
c.502A>T (p.Lys168Ter)
n.859A>T
c.-171A>T (n.-171A>T)
4g.1001880A>CCA355962273IDUAc.791A>C (p.Lys264Thr)
n.847A>C
c.650A>C (p.Lys217Thr)
c.608A>C (p.Lys203Thr)
c.395A>C (p.Lys132Thr)
n.691A>C
n.879A>C
c.584A>C (p.Lys195Thr)
c.503A>C (p.Lys168Thr)
n.860A>C
c.-170A>C (n.-170A>C)
4g.1001880A>GCA355962274IDUAc.791A>G (p.Lys264Arg)
n.847A>G
c.650A>G (p.Lys217Arg)
c.608A>G (p.Lys203Arg)
c.395A>G (p.Lys132Arg)
n.691A>G
n.879A>G
c.584A>G (p.Lys195Arg)
c.503A>G (p.Lys168Arg)
n.860A>G
c.-170A>G (n.-170A>G)
 gnomAD v4
4g.1001880A>TCA355962275IDUAc.791A>T (p.Lys264Met)
n.847A>T
c.650A>T (p.Lys217Met)
c.608A>T (p.Lys203Met)
c.395A>T (p.Lys132Met)
n.691A>T
n.879A>T
c.584A>T (p.Lys195Met)
c.503A>T (p.Lys168Met)
n.860A>T
c.-170A>T (n.-170A>T)
4g.1001881G>ACA438057397IDUAc.792G>A (p.Lys264=)
n.848G>A
c.651G>A (p.Lys217=)
c.609G>A (p.Lys203=)
c.396G>A (p.Lys132=)
n.692G>A
n.880G>A
c.585G>A (p.Lys195=)
c.504G>A (p.Lys168=)
n.861G>A
c.-169G>A (n.-169G>A)
4g.1001881G>CCA355962276IDUAc.792G>C (p.Lys264Asn)
n.848G>C
c.651G>C (p.Lys217Asn)
c.609G>C (p.Lys203Asn)
c.396G>C (p.Lys132Asn)
n.692G>C
n.880G>C
c.585G>C (p.Lys195Asn)
c.504G>C (p.Lys168Asn)
n.861G>C
c.-169G>C (n.-169G>C)
4g.1001881G>TCA355962277IDUAc.792G>T (p.Lys264Asn)
n.848G>T
c.651G>T (p.Lys217Asn)
c.609G>T (p.Lys203Asn)
c.396G>T (p.Lys132Asn)
n.692G>T
n.880G>T
c.585G>T (p.Lys195Asn)
c.504G>T (p.Lys168Asn)
n.861G>T
c.-169G>T (n.-169G>T)
 ClinVar gnomAD v4
4g.1001881_1001882insCGGGCCA2669479957IDUAc.792_792+1insCGGGC (n.792_792+1insCGGGC)
n.848_848+1insCGGGC
c.651_651+1insCGGGC (n.651_651+1insCGGGC)
c.609_609+1insCGGGC (n.609_609+1insCGGGC)
c.396_396+1insCGGGC (n.396_396+1insCGGGC)
n.692_693insCGGGC
n.880_880+1insCGGGC
c.651_652insCGGGC (p.Val218ArgfsTer?)
c.585_585+1insCGGGC (n.585_585+1insCGGGC)
c.504_504+1insCGGGC (n.504_504+1insCGGGC)
n.861_861+1insCGGGC
c.-169_-169+1insCGGGC (n.-169_-169+1insCGGGC)
 gnomAD v4
4g.1001882G>ACA355962279IDUAc.792+1G>A (n.792+1G>A)
n.848+1G>A
c.651+1G>A (n.651+1G>A)
c.609+1G>A (n.609+1G>A)
c.396+1G>A (n.396+1G>A)
n.693G>A
n.880+1G>A
c.652G>A (p.Val218Met)
c.585+1G>A (n.585+1G>A)
c.504+1G>A (n.504+1G>A)
n.861+1G>A
c.-169+1G>A (n.-169+1G>A)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.1001882G>CCA355962280IDUAc.792+1G>C (n.792+1G>C)
n.848+1G>C
c.651+1G>C (n.651+1G>C)
c.609+1G>C (n.609+1G>C)
c.396+1G>C (n.396+1G>C)
n.693G>C
n.880+1G>C
c.652G>C (p.Val218Leu)
c.585+1G>C (n.585+1G>C)
c.504+1G>C (n.504+1G>C)
n.861+1G>C
c.-169+1G>C (n.-169+1G>C)
4g.1001882G=CA1433068198IDUAc.792+1G= (n.792+1G=)
n.848+1G=
c.651+1G= (n.651+1G=)
c.609+1G= (n.609+1G=)
c.396+1G= (n.396+1G=)
n.693G=
n.880+1G=
c.652G= (p.Val218=)
c.585+1G= (n.585+1G=)
c.504+1G= (n.504+1G=)
n.861+1G=
c.-169+1G= (n.-169+1G=)
4g.1001882G>TCA355962278IDUAc.792+1G>T (n.792+1G>T)
n.848+1G>T
c.651+1G>T (n.651+1G>T)
c.609+1G>T (n.609+1G>T)
c.396+1G>T (n.396+1G>T)
n.693G>T
n.880+1G>T
c.652G>T (p.Val218Leu)
c.585+1G>T (n.585+1G>T)
c.504+1G>T (n.504+1G>T)
n.861+1G>T
c.-169+1G>T (n.-169+1G>T)
 gnomAD v4
4g.1001884_1001900delCA2578014100IDUAc.792+3_792+19del (n.792+3_792+19del)
n.848+3_848+19del
c.651+3_651+19del (n.651+3_651+19del)
c.609+3_609+19del (n.609+3_609+19del)
c.396+3_396+19del (n.396+3_396+19del)
n.695_711del
n.880+3_880+19del
c.654_670del (p.Ala221GlyfsTer14)
c.585+3_585+19del (n.585+3_585+19del)
c.504+3_504+19del (n.504+3_504+19del)
n.861+3_861+19del
c.-169+3_-169+19del (n.-169+3_-169+19del)
4g.1001883T>ACA355962281IDUAc.792+2T>A (n.792+2T>A)
n.848+2T>A
c.651+2T>A (n.651+2T>A)
c.609+2T>A (n.609+2T>A)
c.396+2T>A (n.396+2T>A)
n.694T>A
n.880+2T>A
c.653T>A (p.Val218Glu)
c.585+2T>A (n.585+2T>A)
c.504+2T>A (n.504+2T>A)
n.861+2T>A
c.-169+2T>A (n.-169+2T>A)
4g.1001883T>CCA355962282IDUAc.792+2T>C (n.792+2T>C)
n.848+2T>C
c.651+2T>C (n.651+2T>C)
c.609+2T>C (n.609+2T>C)
c.396+2T>C (n.396+2T>C)
n.694T>C
n.880+2T>C
c.653T>C (p.Val218Ala)
c.585+2T>C (n.585+2T>C)
c.504+2T>C (n.504+2T>C)
n.861+2T>C
c.-169+2T>C (n.-169+2T>C)
 dbSNP
4g.1001883T>GCA355962283IDUAc.792+2T>G (n.792+2T>G)
n.848+2T>G
c.651+2T>G (n.651+2T>G)
c.609+2T>G (n.609+2T>G)
c.396+2T>G (n.396+2T>G)
n.694T>G
n.880+2T>G
c.653T>G (p.Val218Gly)
c.585+2T>G (n.585+2T>G)
c.504+2T>G (n.504+2T>G)
n.861+2T>G
c.-169+2T>G (n.-169+2T>G)
4g.1001883T=CA1433068201IDUAc.792+2T= (n.792+2T=)
n.848+2T=
c.651+2T= (n.651+2T=)
c.609+2T= (n.609+2T=)
c.396+2T= (n.396+2T=)
n.694T=
n.880+2T=
c.653T= (p.Val218=)
c.585+2T= (n.585+2T=)
c.504+2T= (n.504+2T=)
n.861+2T=
c.-169+2T= (n.-169+2T=)
4g.1001884G>ACA784303801IDUAc.792+3G>A (n.792+3G>A)
n.848+3G>A
c.651+3G>A (n.651+3G>A)
c.609+3G>A (n.609+3G>A)
c.396+3G>A (n.396+3G>A)
n.695G>A
n.880+3G>A
c.654G>A (p.Val218=)
c.585+3G>A (n.585+3G>A)
c.504+3G>A (n.504+3G>A)
n.861+3G>A
c.-169+3G>A (n.-169+3G>A)
 dbSNP
4g.1001884G=CA1433068203IDUAc.792+3G= (n.792+3G=)
n.848+3G=
c.651+3G= (n.651+3G=)
c.609+3G= (n.609+3G=)
c.396+3G= (n.396+3G=)
n.695G=
n.880+3G=
c.654G= (p.Val218=)
c.585+3G= (n.585+3G=)
c.504+3G= (n.504+3G=)
n.861+3G=
c.-169+3G= (n.-169+3G=)
4g.1001884G>TCA2669479960IDUAc.792+3G>T (n.792+3G>T)
n.848+3G>T
c.651+3G>T (n.651+3G>T)
c.609+3G>T (n.609+3G>T)
c.396+3G>T (n.396+3G>T)
n.695G>T
n.880+3G>T
c.654G>T (p.Val218=)
c.585+3G>T (n.585+3G>T)
c.504+3G>T (n.504+3G>T)
n.861+3G>T
c.-169+3G>T (n.-169+3G>T)
 gnomAD v4
4g.1001885C>ACA2669479965IDUAc.792+4C>A (n.792+4C>A)
n.848+4C>A
c.651+4C>A (n.651+4C>A)
c.609+4C>A (n.609+4C>A)
c.396+4C>A (n.396+4C>A)
n.696C>A
n.880+4C>A
c.655C>A (p.Arg219Ser)
c.585+4C>A (n.585+4C>A)
c.504+4C>A (n.504+4C>A)
n.861+4C>A
c.-169+4C>A (n.-169+4C>A)
 gnomAD v4
4g.1001885C>GCA2739858815IDUAc.792+4C>G (n.792+4C>G)
n.848+4C>G
c.651+4C>G (n.651+4C>G)
c.609+4C>G (n.609+4C>G)
c.396+4C>G (n.396+4C>G)
n.696C>G
n.880+4C>G
c.655C>G (p.Arg219Gly)
c.585+4C>G (n.585+4C>G)
c.504+4C>G (n.504+4C>G)
n.861+4C>G
c.-169+4C>G (n.-169+4C>G)
4g.1001885C>TCA2669479967IDUAc.792+4C>T (n.792+4C>T)
n.848+4C>T
c.651+4C>T (n.651+4C>T)
c.609+4C>T (n.609+4C>T)
c.396+4C>T (n.396+4C>T)
n.696C>T
n.880+4C>T
c.655C>T (p.Arg219Cys)
c.585+4C>T (n.585+4C>T)
c.504+4C>T (n.504+4C>T)
n.861+4C>T
c.-169+4C>T (n.-169+4C>T)
 gnomAD v4
4g.1001890_1001906dupCA549264465IDUAc.792+9_792+25dup (n.792+9_792+25dup)
n.848+9_848+25dup
c.651+9_651+25dup (n.651+9_651+25dup)
c.609+9_609+25dup (n.609+9_609+25dup)
c.396+9_396+25dup (n.396+9_396+25dup)
n.701_717dup
n.880+9_880+25dup
c.660_676dup (p.Pro226LeufsTer?)
c.585+9_585+25dup (n.585+9_585+25dup)
c.504+9_504+25dup (n.504+9_504+25dup)
n.861+9_861+25dup
c.-169+9_-169+25dup (n.-169+9_-169+25dup)
 dbSNP gnomAD v2 gnomAD v4
4g.1001886G>ACA2669479971IDUAc.792+5G>A (n.792+5G>A)
n.848+5G>A
c.651+5G>A (n.651+5G>A)
c.609+5G>A (n.609+5G>A)
c.396+5G>A (n.396+5G>A)
n.697G>A
n.880+5G>A
c.656G>A (p.Arg219His)
c.585+5G>A (n.585+5G>A)
c.504+5G>A (n.504+5G>A)
n.861+5G>A
c.-169+5G>A (n.-169+5G>A)
 gnomAD v4
4g.1001886G>CCA2739858816IDUAc.792+5G>C (n.792+5G>C)
n.848+5G>C
c.651+5G>C (n.651+5G>C)
c.609+5G>C (n.609+5G>C)
c.396+5G>C (n.396+5G>C)
n.697G>C
n.880+5G>C
c.656G>C (p.Arg219Pro)
c.585+5G>C (n.585+5G>C)
c.504+5G>C (n.504+5G>C)
n.861+5G>C
c.-169+5G>C (n.-169+5G>C)
4g.1001886G>TCA2669479973IDUAc.792+5G>T (n.792+5G>T)
n.848+5G>T
c.651+5G>T (n.651+5G>T)
c.609+5G>T (n.609+5G>T)
c.396+5G>T (n.396+5G>T)
n.697G>T
n.880+5G>T
c.656G>T (p.Arg219Leu)
c.585+5G>T (n.585+5G>T)
c.504+5G>T (n.504+5G>T)
n.861+5G>T
c.-169+5G>T (n.-169+5G>T)
 gnomAD v4
4g.1001886_1001887insGCTGGACTACATCTCA2669479974IDUAc.792+5_792+6insGCTGGACTACATCT (n.792+5_792+6insGCTGGACTACATCT)
n.848+5_848+6insGCTGGACTACATCT
c.651+5_651+6insGCTGGACTACATCT (n.651+5_651+6insGCTGGACTACATCT)
c.609+5_609+6insGCTGGACTACATCT (n.609+5_609+6insGCTGGACTACATCT)
c.396+5_396+6insGCTGGACTACATCT (n.396+5_396+6insGCTGGACTACATCT)
n.697_698insGCTGGACTACATCT
n.880+5_880+6insGCTGGACTACATCT
c.656_657insGCTGGACTACATCT (p.Pro220LeufsTer?)
c.585+5_585+6insGCTGGACTACATCT (n.585+5_585+6insGCTGGACTACATCT)
c.504+5_504+6insGCTGGACTACATCT (n.504+5_504+6insGCTGGACTACATCT)
n.861+5_861+6insGCTGGACTACATCT
c.-169+5_-169+6insGCTGGACTACATCT (n.-169+5_-169+6insGCTGGACTACATCT)
 gnomAD v4
4g.1001888C>ACA915942983IDUAc.792+7C>A (n.792+7C>A)
n.848+7C>A
c.651+7C>A (n.651+7C>A)
c.609+7C>A (n.609+7C>A)
c.396+7C>A (n.396+7C>A)
n.699C>A
n.880+7C>A
c.658C>A (p.Pro220Thr)
c.585+7C>A (n.585+7C>A)
c.504+7C>A (n.504+7C>A)
n.861+7C>A
c.-169+7C>A (n.-169+7C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.1001888C=CA1433068209IDUAc.792+7C= (n.792+7C=)
n.848+7C=
c.651+7C= (n.651+7C=)
c.609+7C= (n.609+7C=)
c.396+7C= (n.396+7C=)
n.699C=
n.880+7C=
c.658C= (p.Pro220=)
c.585+7C= (n.585+7C=)
c.504+7C= (n.504+7C=)
n.861+7C=
c.-169+7C= (n.-169+7C=)
4g.1001888C>GCA2669479982IDUAc.792+7C>G (n.792+7C>G)
n.848+7C>G
c.651+7C>G (n.651+7C>G)
c.609+7C>G (n.609+7C>G)
c.396+7C>G (n.396+7C>G)
n.699C>G
n.880+7C>G
c.658C>G (p.Pro220Ala)
c.585+7C>G (n.585+7C>G)
c.504+7C>G (n.504+7C>G)
n.861+7C>G
c.-169+7C>G (n.-169+7C>G)
 gnomAD v4
4g.1001888C>TCA2739858817IDUAc.792+7C>T (n.792+7C>T)
n.848+7C>T
c.651+7C>T (n.651+7C>T)
c.609+7C>T (n.609+7C>T)
c.396+7C>T (n.396+7C>T)
n.699C>T
n.880+7C>T
c.658C>T (p.Pro220Ser)
c.585+7C>T (n.585+7C>T)
c.504+7C>T (n.504+7C>T)
n.861+7C>T
c.-169+7C>T (n.-169+7C>T)
4g.1001889C>ACA2669479987IDUAc.792+8C>A (n.792+8C>A)
n.848+8C>A
c.651+8C>A (n.651+8C>A)
c.609+8C>A (n.609+8C>A)
c.396+8C>A (n.396+8C>A)
n.700C>A
n.880+8C>A
c.659C>A (p.Pro220His)
c.585+8C>A (n.585+8C>A)
c.504+8C>A (n.504+8C>A)
n.861+8C>A
c.-169+8C>A (n.-169+8C>A)
 gnomAD v4
4g.1001889C>GCA2739858819IDUAc.792+8C>G (n.792+8C>G)
n.848+8C>G
c.651+8C>G (n.651+8C>G)
c.609+8C>G (n.609+8C>G)
c.396+8C>G (n.396+8C>G)
n.700C>G
n.880+8C>G
c.659C>G (p.Pro220Arg)
c.585+8C>G (n.585+8C>G)
c.504+8C>G (n.504+8C>G)
n.861+8C>G
c.-169+8C>G (n.-169+8C>G)
4g.1001889C>TCA2739858818IDUAc.792+8C>T (n.792+8C>T)
n.848+8C>T
c.651+8C>T (n.651+8C>T)
c.609+8C>T (n.609+8C>T)
c.396+8C>T (n.396+8C>T)
n.700C>T
n.880+8C>T
c.659C>T (p.Pro220Leu)
c.585+8C>T (n.585+8C>T)
c.504+8C>T (n.504+8C>T)
n.861+8C>T
c.-169+8C>T (n.-169+8C>T)
4g.1001890T>ACA2669480002IDUAc.792+9T>A (n.792+9T>A)
n.848+9T>A
c.651+9T>A (n.651+9T>A)
c.609+9T>A (n.609+9T>A)
c.396+9T>A (n.396+9T>A)
n.701T>A
n.880+9T>A
c.660T>A (p.Pro220=)
c.585+9T>A (n.585+9T>A)
c.504+9T>A (n.504+9T>A)
n.861+9T>A
c.-169+9T>A (n.-169+9T>A)
 gnomAD v4
4g.1001890T>CCA549264466IDUAc.792+9T>C (n.792+9T>C)
n.848+9T>C
c.651+9T>C (n.651+9T>C)
c.609+9T>C (n.609+9T>C)
c.396+9T>C (n.396+9T>C)
n.701T>C
n.880+9T>C
c.660T>C (p.Pro220=)
c.585+9T>C (n.585+9T>C)
c.504+9T>C (n.504+9T>C)
n.861+9T>C
c.-169+9T>C (n.-169+9T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1001890T>GCA2580070657IDUAc.792+9T>G (n.792+9T>G)
n.848+9T>G
c.651+9T>G (n.651+9T>G)
c.609+9T>G (n.609+9T>G)
c.396+9T>G (n.396+9T>G)
n.701T>G
n.880+9T>G
c.660T>G (p.Pro220=)
c.585+9T>G (n.585+9T>G)
c.504+9T>G (n.504+9T>G)
n.861+9T>G
c.-169+9T>G (n.-169+9T>G)
 ClinVar
4g.1001890T=CA1433068214IDUAc.792+9T= (n.792+9T=)
n.848+9T=
c.651+9T= (n.651+9T=)
c.609+9T= (n.609+9T=)
c.396+9T= (n.396+9T=)
n.701T=
n.880+9T=
c.660T= (p.Pro220=)
c.585+9T= (n.585+9T=)
c.504+9T= (n.504+9T=)
n.861+9T=
c.-169+9T= (n.-169+9T=)
4g.1001890_1001891insCCACATCA2669480001IDUAc.792+9_792+10insCCACAT (n.792+9_792+10insCCACAT)
n.848+9_848+10insCCACAT
c.651+9_651+10insCCACAT (n.651+9_651+10insCCACAT)
c.609+9_609+10insCCACAT (n.609+9_609+10insCCACAT)
c.396+9_396+10insCCACAT (n.396+9_396+10insCCACAT)
n.701_702insCCACAT
n.880+9_880+10insCCACAT
c.660_661insCCACAT (p.Pro220_Ala221insProHis)
c.585+9_585+10insCCACAT (n.585+9_585+10insCCACAT)
c.504+9_504+10insCCACAT (n.504+9_504+10insCCACAT)
n.861+9_861+10insCCACAT
c.-169+9_-169+10insCCACAT (n.-169+9_-169+10insCCACAT)
 gnomAD v4

Number of alleles fetched